Paediatrics Flashcards

1
Q

Define pneumonia?

A

Any inflammatory condition affecting the alveoli of the lungs, but in the vast majority of patients this is secondary to a bacterial infection.

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2
Q

List some symptoms of pneumonia?

A

Cough
Sputum
Dyspnoea
Chest pain: may be pleuritic
Fever

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3
Q

List some signs of pneumonia?

A

Inflammation - fever and tachycardia
Reduced O2 sats
Reduced breath sounds
Bronchial breathing

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4
Q

What investigations are used for pneumonia?

A

X-ray

Bloods - FBC, ESR, CRP, U&Es

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5
Q

What is the most likely causative organism of bacterial pneumonia in children?

A

Streptococcus pneumoniae

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6
Q

What are some causes of typical bacterial pneumonia?

A

Streptococcus pneumoniae
Haemophilus influenzae
Staphylococcus aureus: commonly after influenza infection

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7
Q

What is a cause of atypical baterial pneumonia?

A

Mycoplasma pneumoniae

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8
Q

What type of pneumonia is commonly seen in alcoholics?

A

Klebsiella pneumoniae

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9
Q

What is the first line management for childhood pneumonia?

A

Amoxicillin is first-line for all children with pneumonia

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10
Q

What is the second line management for childhood pneumonia, if first line fails?

A

Macrolides may be added if there is no response to first line therapy

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11
Q

What is the management for childhood pneumonia if there is suspected mycoplasma or chlamydia?

A

Macrolides should be used if mycoplasma or chlamydia is suspected

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12
Q

If childhood pneumonia is associated with influenza, what is the alternative first line management?

A

In pneumonia associated with influenza, co-amoxiclav is recommended

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13
Q

What is the difference between acute bronchitis and pneumonia?

A

No other focal chest signs in acute bronchitis other than wheeze.
No systemic symptoms

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14
Q

A cough which is barking and seal-like, with symptoms worse at night would indicate what?

A

Croup

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15
Q

What are the classical features of croup?

A

Cough which is barking and seal-like, with symptoms worse at night.

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16
Q

What is the management for croup?

A

Single dose of oral dexamethasone regardless of severity.
Second line - Prednisolone

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17
Q

What is the emergency management for croup?

A

High-flow oxygen and nebulised adrenaline

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18
Q

Why would you never perform a throat examination on a child with suspected croup?

A

Never perform a throat examination on a patient with croup due to risk of airway obstruction

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19
Q

What sign would be seen on a posterior-anterior chest X-ray of a child with croup?

A

Subglottic narrowing, commonly called the ‘steeple sign’

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20
Q

What sign would be seen on a lateral chest X-ray of a child with croup?

A

Swelling of the epiglottis - the ‘thumb sign’

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21
Q

What is the main organism that causes croup?

A

Parainfluenza virus accounts for the majority of cases of croup

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22
Q

When is croup more common in the year?

A

Autumn

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23
Q

Define asthma? What type of sensitivity reaction is asthma?

A

A chronic inflammatory disorder of the airways secondary to type 1 hypersensitivity

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24
Q

Why is diagnosis of asthma in children difficult?

A

It is common for young children to wheeze when they develop a virus (‘viral-induced wheeze’)

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25
Patient with asthma may also suffer from what conditions?
Other IgE-mediated atopic conditions such as: Atopic dermatitis (eczema) Allergic rhinitis (hay fever)
26
What are asthma patients most likely allergic to? What else will they have?
Aspirin Will most likely have nasal polyps if this is the case
27
What are the features of asthma?
Cough - worse at night Dyspnoea Expiratory wheeze Reduced peak expiratory flow rate
28
What is FEV1?
Forced expiratory volume - volume that has been exhaled at the end of the first second of forced expiration
29
What is FVC?
Forced vital capacity - volume that has been exhaled after a maximal expiration following a full inspiration
30
What are the typical spirometry results in asthma?
FEV1 - significantly reduced FVC - normal FEV1% (FEV1/FVC) < 70%
31
What are the first-line investigations for asthma?
Fractional exhaled Nitric Oxide OR Eosinophil count
32
What is the second-line investigation for asthma?
Bronchodilator reversibility (BDR) with spirometry
33
What is the first line management for asthma?
Salbutamol
34
What is a side effect of salbutamol?
Tremor
35
What type of drug is salbutamol?
Short-acting-beta agonist (SABA)
36
What is the mechanism of action of salbutamol?
Relaxation of the smooth muscles of the airways
37
What is the additional second line management for asthma?
Inhaled corticosteroids
38
What are the side effects of inhaled corticosteroids?
Oral candidiasis Stunted growth in children
39
Give some examples of inhaled corticosteroids in asthma? What are the side effects?
Beclometasone dipropionate Fluticasone propionate
40
What is the additional third line management for asthma?
Leukotriene receptor antagonist (LTRA) - Montelukast
41
What is the fourth-line management for asthma?
Salmetrol
42
What type of drug is salmetrol?
Long-acting beta-agonist
43
What is the mechanism of action of salmetrol?
They work by relaxing the smooth muscle of airways
44
What would the assessment of a moderate asthma attack show in children?
SpO2 > 92% No clinical features of severe asthma
45
What would the assessment of a severe asthma attack show in children?
SpO2 < 92% PEF - 33-50% Too breathless to talk or feed Use of accessory neck muscles HR - >125 (>5 years), >140 (1-5 years) RR - >30 (>5 years), >40 (1/5 years)
46
What would the assessment of a life-threatening asthma attack show in a child?
SpO2 <92% PEF - PEF <33% best or predicted Silent chest Poor respiratory effort Agitation Altered consciousness Cyanosis
47
What is the management for mild-moderate acute asthma in children?
Beta-2-agonist via a spacer (>3 years use close fitting mask) 1 puff every 30-60 seconds. Max 10 puffs If no symptom control refer to hospital Steroid therapy for 3-5 days 2-5 years - 20mg prednisolone OD >5 years - 30-40mg prednisolone OD
48
What would the assessment of a moderate asthma attack show in adults?
PEFR 50-75% best or predicted Speech normal RR < 25 / min Pulse < 110 bpm
49
What would the assessment of a severe asthma attack show in adults?
PEFR 33 - 50% best or predicted Can't complete sentences RR > 25/min Pulse > 110 bpm
50
What would the assessment of a life-threatening asthma attack show in adults?
PEFR < 33% best or predicted Oxygen sats < 92% 'Normal' pC02 (4.6-6.0 kPa) Silent chest, cyanosis or feeble respiratory effort Bradycardia, dysrhythmia or hypotension Exhaustion, confusion or coma
51
What would the assessment of a near-fatal asthma attack show in adults?
Raised pC02 and/or requiring mechanical ventilation with raised inflation pressures.
52
What is the management for a life-threatening acute asthma attack in adults?
Admission to hospital 15L oxygen in non-rebreathe mask if 02 sats low (until spO2 94-98) Nebulised SABA (salbutamol) 40-50mg prednisolone PO - 5 days Ipratropium bromide in all life-threatening or whom have not responded to SABA / Steroids
53
What is the criteria for discharge in patients who have had an acute asthma attack?
Stable on their discharge medication (i.e. no nebulisers or oxygen) for 12-24 hours Inhaler technique checked and recorded PEF >75% of best or predicted
54
Define bronchiolitis?
Bronchiolitis is a condition characterised by acute bronchiolar inflammation
55
What is the pathogen which causes bronchiolitis?
Respiratory syncytial virus (80%) Rhinovirus (20%)
56
What is the investigation of choice for bronchiolitis?
Immunofluorescence of nasopharyngeal secretions may show RSV
57
What is the management for bronchiolitis?
If SpO2 persistently >92% - humidified oxygen Accessory: NG feeding Suction of secretions
58
What would classify a patient as high-risk in bronchiolitis?
Bronchopulmonary dysplasia (e.g. Premature) Congenital heart disease Cystic fibrosis
59
Define cystic fibrosis?
A genetic disorder which causes increased viscosity of secretions (e.g. lungs and pancreas)
60
What is the inheritance pattern of cystic fibrosis? What gene is involved?
Autosomal recessive Cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel
61
What organisms may colonise cystic fibrosis patients?
Staphylococcus aureus Pseudomonas aeruginosa Burkholderia cepacia Aspergillus
62
What are the presenting features of cystic fibrosis?
Neonatal - Meconium illness, jaundice (20%) Recurrent chest infection (40%) Steatorrhoea, failure to thrive (30%) Liver disease (10%)
63
What are some other features of cystic fibrosis?
Short stature Diabetes mellitus Delayed puberty Rectal prolapse (due to bulky stools) Nasal polyps Male infertility, female subfertility
64
What is the diagnostic test for cystic fibrosis?
Guthrie test ('heel prick) for screening Sweat test - sweat chloride > 60 mEq/l (normal < 40 mEq/l)
65
What is the most common cause of a false negative sweat test?
skin oedema, often due to hypoalbuminaemia/ hypoproteinaemia secondary to pancreatic exocrine insufficiency
66
What is the management for cystic fibrosis?
Lung physiotherapy High calorie, high fat diet Vitamin supplementation Pancreatic enzyme supplements taken with meals Lung transplant
67
In what patients is a lung transplant contraindicated for cystic fibrosis?
Chronic infection with Burkholderia cepacia
68
Define acute epiglotitis?
Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B
69
What are the features of acute epiglotitis?
Rapid onset High temperature, generally unwell Stridor Drooling of saliva 'Tripod' position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
70
What would you see on a posterior-anterior view X-ray for acute epiglottis?
Subglottic narrowing - 'steeple' sign
71
What would you see on a lateral view X-ray for acute epiglottis?
Swelling of epiglottis - 'thumb' sign
72
What should you not do in acute epiglottitis?
Do NOT examine throat due to risk of acute airway obstruction Diagnosis is made by direct visualisation but this should only be done by senior staff who are able to intubate if necessary
73
What is the management for acute epiglottitis?
Immediate senior involvement, including those able to provide emergency airway - endotracheal intubation may be necessary Oxygen IV antibiotics - Ceftriaxone
74
Why are children more likely to get otitis media?
Shorter Eustachian tube
75
What are most otitis media infections caused by?
URTI precedes otitis media. Streptococcus pneumonaie Haemophilus influenzae Moraxella catarrhalis
76
What otoscopy findings would be observed for otitis media?
Bulging tympanic membrane → loss of light reflex Opacification or erythema of the tympanic membrane Perforation with purulent otorrhoea
77
What is the management of otitis media?
Analgesia - NSAIDs and Paracetamol Antibiotics not routinely offered
78
What are the exceptions for not giving antibiotics for otitis media?
43210 4: >4days 3: NEWS>3 (systemically unwell) 2: less than 2 + bi(2)laterally 1: (I)mmunocompromised 0 : it looks like a hole (perfOration)
79
What antibiotic is used for otitis media when indicated?
5-7 days amoxicillin erythromycin or clarithromycin if allergy
80
Define glue ear?
Glue ear describes otitis media with an effusion (other terms include serous otitis media)
81
What is the most common cause of conductive hearing loss?
Glue ear
82
What is the management for glue ear?
First presentation - watchful waiting for 3 month Grommets
83
What are grommets?
Grommets are tiny tubes inserted into the tympanic membrane by an ENT surgeon. This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal.
84
Define periorbital cellulitis?
Peri-orbital (also known as pre-septal) cellulitis is inflammation and infection of the superficial eyelid
85
What organisms cause peri-orbital cellulitis?
Staphylococcus aureus Staphylococcus epidermidis Streptococcus species
86
Define squint (strabismus)?
Squint (strabismus) is characterised by misalignment of the visual axes. Squints may be divided into concomitant (common) and paralytic (rare).
87
What is concominant squint?
Misalignment of the visual axis due to imbalance in extraocular muscles Convergent is more common than divergent
88
What is paralytic squint?
Misalignment of the visual axis due to paralysis of extraocular muscles
89
What is the management for squint (strabismus)?
Referral to secondary care - eye patches may help prevent amblyopia
90
What is amblyopia?
The brain fails to fully process inputs from one eye and over time favours the other eye
91
What is atrial flutter?
Atrial flutter is a form of supraventricular tachycardia characterised by a succession of rapid atrial depolarisation waves
92
What would ECG changes be for atrial flutter?
Sawtooth appearance (flutter waves / f wave)
93
What is the immediate management for atrial flutter?
Synchronised cardioversion with anticoagulant
94
Define AF?
Atrial fibrillation is the most common sustained cardiac arrhythmia in which there is an increased risk of stroke
95
What are the different types of AF?
First detected episode Recurrent episodes Permanent AF
96
What are the types of recurrent AF?
Paroxysmal AF - Terminates spontaneously Persistent AF - Non-self terminating (>7 days)
97
What are the features of AF?
Palpitations Dyspnoea Chest pain Irregularly irregular pulse
98
What are the two types of control used in the management of AF?
Rhythm control (preferred under certain criteria) Rate control
99
What is the role of rhythm control in AF management?
Try to get the patient back into, and maintain, normal sinus rhythm. This is termed cardioversion.
100
What is the first-line criteria for rhythm control in haemodynamically unstable patients?
Haemodynamically unstable - electrical cardioversion E.g. hypotension, heart failure
101
What is the criteria to use rhythm control first in AF management in haemodynamically stable patients?
Short duration of symptoms (less than 48 hours) OR Be anticoagulated for a period of time prior to attempting cardioversion - 3 weeks.
102
What pharmacological agents are used for cardioversion in AF?
Amiodarone Flecainide (if no structural heart disease)
103
What is the role of rate control on AF management?
Accept that the pulse will be irregular, but slow the rate down to avoid negative effects on cardiac function
104
What pharmacological management is used for rate control in AF?
A beta-blocker or a rate-limiting calcium channel blocker (e.g. diltiazem) is used first-line
105
What happens if one drug does not control rate adequately in AF?
Combination therapy with any 2 of the following: Betablocker Diltiazem Digoxin
106
What is a common contraindication for beta-blockers for rate control in patients with AF?
Asthma
107
When is there the highest risk of embolism leading to stroke in AF?
The moment a patient switches from AF to sinus rhythm
108
What is the CHA2DS2-VSAc score used for?
Calculates stroke risk for patients with atrial fibrillation
109
What score calculates stroke risk for patients with atrial fibrillation?
CHA2DS2-VSAc
110
What are the individual scores in the CHA2DS2-VSAc scoring system?
C - congestive heart failure - 1 H - hypertension - 1 A2 - Age - Age >= 75 - 2, Age 65-74 - 1 D - diabetes - 1 S2 - Prior Stroke, TIA or thromboembolism - 2 V - Vascular disease (IHD, PAD) - 1 S - sex (female) - 1
111
What is the anticoagulation strategy based on CHA2DS2-VSAc score?
0 - No treatment 1 - Male - consider coagulation, Female - no treatment 2 or more - Offer anticoagulation
112
What should be performed if CHA2DS2-VSAc score = 0 and why?
ECHO to exclude valvular heart disease
113
What pharmacological agents are used first-line for anticoagulation in AF?
DOACs: Apixaban Dabigatran Edoxaban Rivaroxaban
114
What pharmacological agent is used second-line for anticoagulation in AF?
Warfarin due to requiring regular blood tests to check the INR
115
What score is to assess the patient's bleeding risk before anticoagulation is commenced?
ORBIT score
116
What is an ORBIT score used for?
To assess the patient's bleeding risk before anticoagulation is commenced
117
List three types of supra-ventricular tachycardia?
Atrioventricular nodal re-entrant tachycardia (AVNRT) Atrioventricular reentrant tachycardia (AVRT) e.g. Wolf-Parkinson White syndrome
118
What is the most common type of supra-ventricular tachycardia?
Atrioventricular nodal reentrant tachycardia (AVNRT)
119
What is the first line acute management for supra-ventricular tachycardia?
Valsalva manoeuvre: e.g. trying to blow into an empty plastic syringe Carotid sinus massage
120
What is the definitive management for supra-ventricular tachycardias?
Radio-frequency ablation of the accessory pathway
121
What pharmacological management may be given for supra-ventricular tachycardias?
Intravenous adenosine: Rapid IV bolus of 6mg → if unsuccessful give 12 mg → if unsuccessful give further 18 mg Verapamil if asthmatic
122
Define Wolff-Parkinson White syndrome?
A congenital accessory conducting pathway between the atria and ventricles leading to atrioventricular re-entry tachycardia (AVRT)
123
What would an ECG show for right-sided accessory pathway Wolff-Parkinson-White syndrome?
Short PR interval Wide QRS complex with slurred upstroke - Delta wave Left axis deviation - majority of cases
124
What would an ECG show for left-sided accessory pathway Wolff-Parkinson-White syndrome?
Short PR interval Wide QRS complex with slurred upstroke - Delta wave Right axis deviation Dominant R wave in V1
125
What is would ventricular fibrillation show on an ECG?
No QRS complex can be identified, ECG completely disorganised Patient is likely to be unconscious
126
What is the management for ventricular fibrillation?
Immediate Dc cardioversion
127
What are the two types of ventricular tachycardia?
Monomorphic VT: most commonly caused by myocardial infarction Polymorphic VT: A subtype of polymorphic VT is torsades de pointes
128
What is the management for ventricular tachycardia?
Immediate cardioversion IV amioderone
129
Define ventricular ectopic?
Ventricular ectopics are premature ventricular beats
130
What is the management for ventricular ectopic?
Reassurance in otherwise healthy people Beta blockers and Ca channel blockers for palpitations
131
What is the management for Torsades de Pointes?
IV magnesium sulphate
132
What are the acyanotic congenital heart defects?
Ventricular septal defect Atrial septal defect Patient ductus arteriosus Coarctation of the aorta Aortic valve stenosis
133
What are the cyanotic congenital heart defects?
Tetralogy of Fallot Transposition of the great arteries (TGA) Tricuspid atresia
134
What is the most common congenital heart disease?
Ventricular septal defects (VSD) - close spontaneously in around 50% of cases
135
What are the risk factors for VSD?
Trisomys Congenital infections
136
What are the features of VSD?
Failure to thrive Pan-systolic murder Features of heart failure: Tachypnoea Hepetomegaly Pallor Tachycardia
137
Define transposition of the great arteries?
A cyanotic congenital heart disease caused by the failure of the aorticopulmonary septum to spiral during septation
138
What is a risk factor for transposition of the great arteries?
Diabetic mothers
139
Describe the anatomical changes seen in transposition of the great arteries?
Aorta leaves the right ventricle Pulmonary trunk leaves the left ventricle
140
What are the features of transposition of the great arteries?
Cyanosis Tachypnoea Loud single S2 sound and prominent right ventricular impulse
141
What is the management for transposition of the great arteries?
Prostaglandins e.g. alprostadil to maintain ductus arteriosus Surgical correction is definite treatment
142
What is the most common cause of congenital heart disease to be found in adulthood?
Atrial septal defect
143
What are the features of atrial septal defects?
Ejection systolic murmur, fixed splitting of S2 Embolism may pass from venous to left side causing stroke RBBB with RAD - osmium secundum (70%) RBBB with LAD - ostium primium
144
What is an atrioventricular septal defect?
Deficiency of the atrioventricular septum of the heart that creates connections between all four of its chambers
145
What is the most common cause of cyanotic congenital heart disease?
Tetralogy of Fallot by actual incidence Transposition of the great arteries presents more
146
Define Tetralogy of Fallot?
Ventricular septal defect (VSD) Right ventricular hypertrophy Right ventricular outflow tract obstruction, pulmonary stenosis Overriding aorta
147
What determines the degree of cyanosis and clinical severity on Tetralogy of Fallot?
The severity of the right ventricular outflow tract obstruction
148
What are the features of Tetralogy of Fallot?
Cyanosis and 'tet' spells which may result in loss of consciousness Ejection systolic murmur - due to pulmonary stenosis
149
What would a 'boot' shaped heart indicate on X-ray?
Tetralogy of Fallot
150
What is the management for Tetralogy of Fallot?
Prostaglandin e.g. alprostadil to maintain ductus arteriosus Surgery
151
What would be indicative of Tetralogy of Fallot on an X-ray
'boot' shaped heart
152
What classification system is used to classify the severity of heart failure?
The New York Heart Association (NYHA) classification
153
What is the The New York Heart Association (NYHA) classification used for?
Used to classify the severity of heart failure.
154
NYHA Class I would indicate what?
No symptoms No limitation
155
NYHA Class II would indicate what?
Mild symptoms Slight limitation of physical activity: comfortable at rest but ordinary activity results in fatigue, palpitations or dyspnoea
156
NYHA Class III would indicate what?
Moderate symptoms Marked limitation of physical activity: comfortable at rest but less than ordinary activity results in symptoms
157
NYHA Class IV would indicate what?
Severe symptoms Unable to carry out any physical activity without discomfort: symptoms of heart failure are present even at rest with increased discomfort with any physical activity
158
What is heart failure?
Heart failure may be defined as a clinical syndrome where the heart is unable to pump enough blood to meet the metabolic needs of the body.
159
What is heart failure with reduced ejection fraction defined as?
Left ventricular ejection fraction is typically defined as < 35 to 40%
160
What type of dysfunction do patients with HF-pEF have?
Diastolic dysfunction (impaired ventricular filling during diastole).
161
Diastolic dysfunction (impaired ventricular filling during diastole) would be what type of heart failure?
HF-pEF
162
What type of dysfunction do patients with HF-rEF have?
HF-rEF patients typically have systolic dysfunction (impaired myocardial contraction during systole)
163
Systolic dysfunction (impaired myocardial contraction during systole) would be what type of heart failure?
HF-rEF
164
What is the most common reason for a heart failure patient to present to the Emergency Department?
The most urgent symptoms are often due to left ventricular failure, resulting in pulmonary oedema.
165
Left ventricular failure would present with what symptoms?
Pulmonary oedema: Dyspnoea Orthopnoea Paroxysmal nocturnal dyspnoea Bibasal fine crackles
166
Right ventricular failure would present with what symptoms?
Peripheral oedema - ankle/sacral oedema Raised jugular venous pressure Hepatomegaly Weight gain due to fluid retention Anorexia ('cardiac cachexia')
167
What are the first line investigations for heart failure?
N-terminal pro-B-type natriuretic peptide (NT-proBNP) B-type natriuretic peptide (BNP)
168
What would normal levels of NTproBNP and BNP be?
BNP - < 100 pg/m NTproBNP - < 400 pg/ml
169
What would raised levels of NTproBNP and BNP be?
BNP - 100-400 pg/ml NTproBNP - 400-2000 pg/ml
170
What would high levels of NTproBNP and BNP be?
BNP - > 400 pg/ml NTproBNP - > 2000 pg/ml
171
What would the interpretation be of a raised NTproBNP blood test?
Arrange specialist assessment (including transthoracic echocardiography) echocardiogram within 6 weeks
172
What would the interpretation be of a high NTproBNP blood test?
Arrange specialist assessment (including transthoracic echocardiography) within 2 weeks
173
What is the first-line pharmacological management of heart failure?
ACE-Inhibitor Beta-blocker
174
What are some examples of beta-blockers that may be used in treatment of heart failure?
Bisoprolol Carvedilol Nebivolol
175
What are the second-line therapies for heart failure?
Aldosterone antagonist SGLT-2 inhibitors
176
What are some examples of aldosterone antagonists used in heart failure?
Spironolactone Eplerenone
177
What should you be conscious of when prescribing both ACE inhibitors and aldosterone antagonists in heart failure patients?
They both cause hyperkalaemia - therefore potassium should be monitored
178
What are some examples of SGLT-2 inhibitors?
Canagliflozin Dapagliflozin Empagliflozin
179
What is the mechanism of action of SGLT-2 inhibitors?
Reduce glucose reabsorption and increase urinary glucose excretion
180
What class of drugs have not been shown to reduce mortality in heart failure?
No long-term reduction in mortality has been demonstrated for loop diuretics such as furosemide
181
Define rheumatic fever?
Rheumatic fever develops following an immunological reaction to a recent (2-4 weeks ago) Streptococcus pyogenes infection
182
How is a diagnosis of rheumatic fever made?
Jones criteria - diagnosis is based on evidence of recent streptococcal infection accompanied by: 2 major criteria 1 major with 2 minor criteria
183
What is the evidence of recent streptococcus infection for diagnosis if rheumatic fever?
Raised or rising streptococci antibodies, Positive throat swab Positive rapid group A streptococcal antigen test
184
What are the major criteria for a diagnosis of rheumatic fever?
JONES: (J)oint - Polyarthritis (O)rgan involvement - Carditis Subcutaneous (N)odules (E)rythema marginatum (S)ydenham's chorea - late feature
185
What are the minor criteria for a diagnosis of rheumatic fever?
FEAR: Fever ECG changes - Prolonged PR interval Arthralgia (not if arthritis a major criteria) Raised ESR or CRP
186
What is the Jones criteria used for?
A diagnosis of rheumatic fever
187
What is the management for rheumatic fever?
Oral penicillin V NSAIDs
188
What is infective endocarditis?
An infection of the endocardium - typically infects valves of the heart
189
How is a diagnosis of infective endocarditis made?
Using the Modified Duke criteria: 2 x Major criteria 1 x Major criteria and 3 Minor criteria 5 Minor
190
What valve is most commonly affected in infective endocarditis?
Mitral valve
191
What valve is most likely affected in IV drug users?
Tricuspid
192
What is the most likely causative organism in infective endocarditis?
Staphylococcus aureus
193
What used to be the most common and still is the most common cause of infective endocarditis in developing countries?
Streptococcus viridans: Streptococcus mitis and Streptococcus sanguinis which are both found in the mouth
194
What is the most common cause of infective endocarditis following prosthetic valve surgery (<2 months)?
Staphylococcus epidermidis due to colonisation of indwelling lines
195
What are some poor prognostic markers for infective endocarditis?
Staphylococcus aureus infection prosthetic valve (especially 'early', acquired during surgery) Culture negative endocarditis Low complement levels
196
What is the initial blind therapy for infective endocarditis with a native valve?
Amoxicillin, consider adding low-dose gentamicin
197
What is the initial blind therapy for infective endocarditis with a prosthetic valve?
Vancomycin + rifampicin + low-dose gentamicin
198
What is the initial blind therapy for infective endocarditis with a native valve and penicillin allergy?
Vancomycin + low-dose gentamicin
199
What is the therapy for staphylococci infective endocarditis with a native valve?
Flucloxacillin
200
What is the therapy for staphylococci infective endocarditis with a native valve and penicillin allergy?
Vancomycin + rifampicin
201
What is the therapy for staphylococci infective endocarditis with a prosthetic valve?
Flucloxacillin + rifampicin + low-dose gentamicin
202
What is the therapy for staphylococci infective endocarditis with a prosthetic valve and penicillin allergy?
Vancomycin + rifampicin + low-dose gentamicin
203
What is the therapy for streptococci infective endocarditis?
Benzylpenicillin
204
What is the therapy for streptococci infective endocarditis with penicillin allergy?
Vancomycin + low-dose gentamicin
205
What is the Modified Duke criteria used for?
A diagnosis of infective endocarditis
206
What are the major criteria used in the Modified Duke critieria?
Two positive blood cultures Endocardial involvement on ECHO
207
What are the minor criteria used in the Modified Duke critieria?
Predisposing heart condition or IVDU Fever >38ºC Immunological - Osler's nodes, Roth spots Vascular - Janeway lesions, clubbing, splinter haemorrhages Positive blood cultures
208
What is the most common cause of vomiting in infancy?
Gastro-oesopageal reflux disease
209
What are the features of GORD in children?
Typically develops before 8 weeks Vomiting - after feeds or being laid flat Excessive crying, especially while feeding
210
What is the management of GORD in children?
30 degree head up during feeds Sleep on their backs Not being overfed - smaller more frequent feeds Thickened formula trial Alginate therapy trial Metoclopramide with specialist input
211
Define pyloric stenosis?
Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting
212
What is pyloric stenosis caused by?
It is caused by hypertrophy is the circular muscles of the pylorus
213
What are the risk factors for pyloric stenosis?
Male 4x more likely Family history First-born children
214
What are the classical features of pyloric stenosis?
Projectile vomiting following a feed Constipation and dehydration Palpable mass on upper abdomen Hypochloraemic, hypokalaemic alkalosis
215
How is a diagnosis of pyloric stenosis made?
Ultrasound
216
What is the management of pyloric stenosis?
Ramstedt pyloromyotomy
217
When should an IBS diagnosis be considered?
The following for 6 months: (A)bdominal pain (B)loating (C)hange in bowel habit
218
When should an IBS diagnosis definitely be made?
Patient has abdominal pain relieved by defecation or associated with altered bowel frequency stool form, in addition to 2 of the following 4 symptoms: Altered stool passage Abdominal bloating Symptoms made worse by eating Passage of mucus
219
What are some red flag queries of IBS?
Rectal bleeding Unexplained weight loss Family history of bowel cancer Onset after 60 years old
220
What are the IBS investigations in primary care?
FBC ESR / CRP Coeliac disease screen (TTG)
221
What are the first-line pharmacological agents used in IBS?
Pain: antispasmodic agents hyoscine butylbromide (Buscopan) Constipation: laxatives but avoid lactulose Diarrhoea: loperamide is first-line
222
What is the general dietary advice for IBS?
Regular meal times Avoid missing meals / long gaps 8 cups of fluid per day Restrict tea and coffee Restrict alcohol and fizzy drinks Limiting high fibre foods Limit fresh fruit Increasing intake of oats and linseeds for wind and bloating
223
What is the most common cause of traveller's diarrhoea?
Escherichia coli
224
What antispasmodic agent is used for IBS?
Hyoscine butylbromide (Buscopan)
225
What laxative should be avoided in IBS?
Lactulose
226
What pharmacological agent is used for constipation in IBS?
Loperamide
227
What is the second line pharmacological agent used in IBS?
Tricyclic antidepressant - Amitriptyline 5-10mg at night
228
Describe the typical presentation seen in Escherichia coli diarrhoea?
Watery stools Abdominal cramps and nausea 12-48 hour incubation period
229
Describe the typical presentation seen in Giardiadis diarrhoea?
Prolonged, non-bloody diarrhoea > 7 days incubation period
230
Describe the typical presentation seen in Shigella diarrhoea?
Bloody diarrhoea Vomiting and abdominal pain 48-72 hours incubation period
231
Describe the typical presentation seen in Cholera diarrhoea?
Profuse, watery diarrhoea Severe dehydration resulting in weight loss
232
Describe the typical presentation seen in Staphylococcus aureus diarrhoea?
Severe vomiting 1-6 hours incubation period
233
Describe the typical presentation seen in Campylobacter diarrhoea?
A flu-like prodrome is usually followed by crampy abdominal pains, fever and diarrhoea which may be bloody May mimic appendicitis Complications include Guillain-Barre syndrome 48-72 hours incubation period
234
Describe the typical presentation seen in Bacillus cereus diarrhoea?
Vomiting within 6 hours, stereotypically due to rice OR Diarrhoeal illness occurring after 6 hours
235
Describe the typical presentation seen in ameobiasis diarrhoea?
Gradual onset bloody diarrhoea, abdominal pain, and tenderness which may last for several weeks > 7 days incubation period
236
What is the management for constipation in children?
Movicol Lactulose is second line
237
What is the classical feature of appendicitis?
Peri-umbilical abdominal pain which radiates to the right iliac fossa Anorexia (not hungry) and vomiting
238
How is appendicitis diagnosed?
Neutrophil dominant leucocytosis Urine analysis - pregnancy exclusion Thin, male patients diagnosed without imaging Female - US for pelvic organ pathology
239
What is the management for appendicitis?
Laparoscopic appendicectomy Prophylactic IV antibiotics
240
What are the two hernias seen in children?
Congenital inguinal hernia Infantile umbilical hernia
241
What is the management for congenital inguinal hernias?
Surgically repaired soon after diagnosis as at risk of incarceration - contents of the hernial sac are stuck inside by adhesions
242
What is the management for infantile umbilical hernias?
The vast majority resolve without intervention before the age of 4-5 years
243
Define failure to thrive?
Failure to thrive refers to poor physical growth and development in a child
244
What viral pathogens are most likely to cause viral gastroenteritis?
Rotavirus Norovirus Adenovirus is a less common cause and presents with a more subacute diarrhoea
245
Define Crohn's disease?
Crohn's disease is a form of inflammatory bowel disease.
246
Where along the bowel does Crohn's disease affect?
It commonly affects the terminal ileum and colon but may be seen anywhere from the mouth to anus
247
What histological layers of the bowel does Crohn's disease affect?
Inflammation occurs in all layers, down to the serosa, this is why patients with Crohn's are prone to strictures, fistulas and adhesions
248
What are the features of Crohn's disease?
Non-specific - weight loss and lethargy Diarrhoea (may be bloody) - adults Abdominal pain - most prominent in children Perianal disease - tags or ulcers
249
What are the most common extra-intestinal features of Crohn's disease and ulcerative colitis that are related to disease activity?
Arthritis Erythema nodosum Episcleritis - more common in CD Osteoporosis
250
What is the most common extra-intestinal feature of Crohn's disease and ulcerative colitis?
Arthritis
251
What are the most common extra-intestinal features of Crohn's disease and ulcerative colitis that are NOT related to disease activity?
Uveitis Pyoderma gangrenosum Clubbing Primary sclerosing cholangitis - more common in UC
252
What blood sample is a good indicator of disease activity in Crohn's disease?
CRP
253
What is the investigation of choice for Crohn's disease and what would it show?
Colonoscopy - deep ulcers and skip lesions
254
What would histological sampling of Crohn's disease show?
Inflammation of all three layers of the serosa Goblet cells are increased Granulomas
255
What would the result be of a small bowel enema for Crohn's disease?
Strictures - 'Kantor's string sign' Proximal bowel dilation 'Rose thorn' ulcers Fistulae
256
What are the main complications of Crohn's disease?
Small bowel cancer Colorectal cancer Osteoporosis
257
What general points should be made to an individual with Crohn's disease?
Strongly advised to stop smoking Wary of NSAIDs and COCP - evidence patchy
258
What is the first-line pharmacological agent used to induce remission in patients with Crohn's disease?
Glucocorticoids - Prednisolone
259
What is the second-line pharmacological agent used to induce remission in patients with Crohn's disease?
5-ASA drugs - mesalazine
260
What add-on medications can be given to induce remission for Crohn's disease patients?
Azathioprine or mercaptopurine - assess thiopurine methyltransferase (TPMT) first Methotrexate is alternative to azathioprine
261
What pharmacological agents can be used for maintenance therapy in Crohn's disease?
Azathioprine or mercaptopurine - assess thiopurine methyltransferase (TPMT) first Methotrexate is alternative to azathioprine
262
What is the management for perianal disease in Crohn's disease?
Oral metronidazole
263
Define ulcerative colitis?
Ulcerative colitis (UC) is a form of inflammatory bowel disease. Inflammation always starts at rectum never spreading beyond ileocaecal valve and is continuous.
264
Where is the most common site of inflammation in UC?
Inflammation always starts at rectum (hence it is the most common site for UC)
265
What are the features of UC?
Bloody diarrhoea Urgency Tenesmus - constant feeling of needing to go Abdominal pain, particularly in the left lower quadrant
266
What is the investigation of choice for UC?
Colonoscopy + biopsy
267
What is the investigation for severe UC?
Colonoscopy should be avoided due to the risk of perforation - a flexible sigmoidoscopy is preferred
268
What would the findings on endoscopy be for UC?
Red, raw mucosa, bleeds easily Widespread ulceration Crypt abscesses
269
What would histological examination of UC show?
No inflammation beyond submucosa (unless fulminant disease) Depletion of goblet cells and mucin from gland epithelium Granulomas are infrequent
270
What would a barium enema in a patient with UC show?
Loss of haustrations Superficial ulceration - 'pseudopolyps' Long standing disease - 'drainpipe colon'
271
What is mild UC?
< 4 stools/day, only a small amount of blood
272
What is moderate UC?
4-6 stools/day, varying amounts of blood, no systemic upset
273
What is severe UC?
>6 bloody stools per day + features of systemic upset (pyrexia, tachycardia, anaemia, raised inflammatory markers)
274
What is the management agent used in mild-to-moderate UC to induce remission?
Topical (rectal) aminosalicyclate If no response + oral aminosalicyclate If no response + oral corticosteroid
275
What aminosalicyclates are used in treatment of UC?
Mesalazine and sulfasalazine
276
What is the management agent used in severe UC to induce remission?
Should be performed in hospital IV steroids are first line 72 hours no improvement -> IV ciclosporin (may also be used if steroids are contraindicated)
277
What is the management for UC to maintain remission?
An oral aminosalicylate Topical (rectal) aminosalicylate Can be used together or alone
278
What would the management be for a UC patient who has had more than 2 exacerbations in the past year?
Oral azathioprine or oral mercaptopurine
279
What may trigger an UC flare?
Stress NSAIDs and antibiotics Cessation of smoking
280
Define Coeliac disease?
Coeliac disease is an autoimmune condition caused by sensitivity to the protein gluten. Repeated exposure leads to villous atrophy which in turn causes malabsorption.
281
What conditions are associated with Coeliac disease?
Dermatitis herpetiformis (a vesicular, pruritic skin eruption) Type 1 diabetes mellitus Autoimmune hepatitis Irritable bowel syndrome Autoimmune thyroid disease
282
What genes are associated with Coeliac disease?
HLA-DQ2 (95%) HLA-DQ8 (80%)
283
In what conditions would a patient be screened for Coeliac disease?
Autoimmune thyroid disease Type 1 diabetes mellitus
284
What are the features of Coeliac disease?
Diarrhoea Failure to thrive - children Unexplained gastrointestinal symptoms Prolonged fatigue Recurrent abdominal pain, cramping and distention Unexplained weight loss Unexplained iron-deficiency anaemia, or other anaemia
285
What are the complications of coeliac disease?
Iron, folate, and vitamin B12 deficiency Hyposplenism Osteoporosis, osteomalacia Lactose intolerance Subfertility
286
How long should a patient be eating gluten for, before investigations can occur. for coeliac disease?
6 weeks
287
What are the investigations for coeliac disease?
Tissue transglutaminase (TTG) antibodies (IgA) are first line Endomyseal antibodies (IgA) Endoscopic intestinal biopsy - gold standard
288
What would a endoscopic intestinal biopsy for coeliac disease show?
Villous atrophy Crypt hyperplasia Increase in intraepithelial lymphocytes Lamina propria infiltration with lymphocytes
289
What is the management for coeliac disease?
Avoid gluten Tissue transglutaminase can be used to check adherence to this
290
What should all patients with coeliac disease be offered?
Pneumococcal vaccine every 5 years due to hyposplenism
291
Define kwashiorkor?
Kwashiorkor, or oedematous malnutrition, is defined as the presence of bilateral pitting oedema, in the absence of another medical cause of oedema
292
Define marasmus?
Marasmus is severe undernutrition — a deficiency in all the macronutrients that the body requires to function
293
Define Hirschprung's disease?
Hirschsprung's disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses
294
What is the pathophysiology behind Hirschprung's disease?
Parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon, meaning there is developmental failure of the parasympathetic Auerbach and Meissner plexuses, leading to uncoordinated peristalsis and therefore a functional obstruction in the bowel
295
What are the risk factor for Hirchsprung's disease?
3x more common in males Down syndrome
296
What are the possible presentations for Hirchsprung's disease?
Neonates - Failure of delay to pass meconium Older children - constipation, abdominal distention
297
What are the investigations for Hirchsprung's disease?
Abdominal X-ray Gold standard - rectal biopsy for diagnosis
298
What is the management for Hirchsprung's disease?
Bowel irrigation Definitive - surgery
299
Define intussusception?
Intussusception describes the invagination of one portion of the bowel into the lumen of the adjacent bowel
300
In what part of the bowel is intussusception most likely to occur?
Most commonly around the ileo-caecal region
301
What age and gender is most likely to be affected by intussusception?
Usually affects infants between 6-18 months old. Boys are affected twice as often as girls
302
What are the classical features of intussusception?
Intermittent, severe, crampy, progressive abdominal pain Inconsolable crying During paroxysm the infant will characteristically draw their knees up and turn pale Vomiting
303
What other features may be present in intussusception?
Sausage-shaped mass in RUQ Bloodstained stool - red currant jelly is a late sign
304
What is the investigation for intussusception?
Ultrasound
305
What is the management for intussusception?
Reduction by air insufflation under radiological control If the child has signs of peritonitis then surgery should be performed
306
Define Meckel's diverticulum?
Meckel's diverticulum is a congenital diverticulum of the small intestine
307
What is the most common cause of massive GI bleeding in children between the ages of 1 and 2?
Meckel's diverticulum
308
What is the investigation for Meckel's diverticulum if they are haemodynamically stable with less severe or intermittent bleeding?
Meckel's scan - 99m technetium pertechnetate, which has an affinity for gastric mucosa
309
What is the investigation for Meckel's diverticulum if they are haemodynamically unstable?
Mesenteric arteriography
310
What is the management for Meckel's diverticulum?
Wedge excision or formal small bowel resection and anastomosis
311
Define infantile colic?
Characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening
312
When does infantile colic usually occur?
In infants less than 3 months old
313
What is the management for infantile colic?
Appropriate feeding Upright position while feeding Adequate burping post-feed Parental reassurance
314
What is the difference between cow's milk protein allergy and cow's milk protein intolerance?
The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions
315
What type of reactions are seen in cow's milk protein allergy / intolerance?
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen
316
When does cow's milk protein allergy / intolerance present?
Presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants
317
What are the features of cow's milk protein allergy / intolerance?
Regurgitation and vomiting Diarrhoea Urticaria, atopic eczema 'Colic' symptoms: irritability, crying Wheeze, chronic cough
318
What are the investigations for cow's milk protein allergy / intolerance?
Skin prick/patch testing Total IgE and specific IgE (RAST) for cow's milk protein
319
What is the management for cow's milk protein allergy / intolerance if formula fed?
First line - Extensive hydrolysed formula (eHF) milk Amino-acid based formula (AAF)
320
What is the management for cow's milk protein allergy / intolerance if breastfed?
Continue breastfeeding Eliminate cow's milk protein from maternal diet - prescribe calcium supplements
321
What is the prognosis for cow's milk protein allergy / intolerance if IgE mediated?
55% will be milk tolerant by the age of 5 years
322
What is the prognosis for cow's milk protein allergy / intolerance if non-IgE mediated?
Most children will be milk tolerant by the age of 3 years
323
What are the classical features of biliary atresia?
Jaundice extending beyond the physiological two weeks Dark urine and pale stools Appetite growth and disturbance - may be normal
324
Define biliary atresia?
A paediatric condition involving either obliteration or discontinuity within the extra-hepatic biliary system, which results in an obstruction in the flow of bile. This results in a neonatal presentation of cholestasis in the first few weeks of life.
325
What are the signs of biliary atresia?
Jaundice Hepatomegaly with splenomegaly Abnormal growth
326
What are the investigations for biliary atresia?
Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high. LFTs - serum bile acids and aminotransferases may be high Serum alpha 1-antitrypsin Sweat chloride test for cystic fibrosis US of the biliary tree and liver
327
What is the management for biliary atresia?
Surgical management is definitive - dissection of the abnormalities into distinct ducts and anastomosis creation Antibiotic coverage and bile acid enhancers following surgery
328
Define neonatal hepatitis?
Inflammation of the liver that occurs in early infancy between 1-2 months of birth
329
What are some causes of neonatal hepatitis?
20%: CMV Rubella Measles Hep A, B, or C 80% due to non-specific viruses
330
What are the features of neonatal hepatitis?
Jaundice Abnormal growth - cannot absorb vitamins Hepatosplenomegaly
331
What is the investigation and management for neonatal hepatitis?
Liver biopsy using fine needle Vitamin supplements
332
Define acute liver failure?
Acute liver failure describes the rapid onset of hepatocellular dysfunction leading to a variety of systemic complications
333
What are some causes of acute liver failure?
Paracetamol overdose Alcohol Viral hepatitis (usually A or B) Acute fatty liver of pregnancy
334
Is a UTI more common in boys or girls?
Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more congenital abnormalities) after which the incidence is substantially higher in girls
335
When should a child with UTI be referred?
Infants less than 3 months old should be referred immediately to a paediatrician. Children aged more than 3 months old with an upper UTI should be considered for admission to hospital.
336
What is the management for children with UTIs in the community?
Oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
337
What should be prompted if a child has a UTI?
Urinary tract infection (UTI) in childhood should prompt an investigation for possible underlying causes and damage to the kidneys
338
What are the causative organisms for UTIs in children?
E. coli (responsible for around 80% of cases) Proteus Pseudomonas
339
What factors may predispose children to developing UTIs?
Incomplete bladder emptying Vesicoureteric reflux Poor hygiene
340
What is pyelonephritis?
Upper urinary tract infection - inflammation of the renal pelvis (join between kidney and ureter) and parenchyma.
341
What is the most common causative agent of pyelonephritis?
E. coli
342
What are the features of pyelonephritis?
Fever, rigors Loin pain Nausea Vomiting Cystitis - dysuria and urinary frequency
343
What is the investigation for pyelonephritis?
Mid stream urine (MSU) before management commenced
344
What is the management for pyelonephritis?
Local antibiotic guidelines BNF - broad-spectrum cephalosporin or a quinolone (for non-pregnant women) for 7-10 days
345
Define nocturnal enuresis?
Enuresis may be defined as the 'involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract'
346
What are the two types of nocturnal enuresis?
Either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)
347
What is the management for nocturnal enuresis?
General advice - fluid intake, toileting patterns, lifting and waking Enuresis alarm - first line when above fails Desmopressin for short term control e.g. sleepovers or an alarm is ineffective
348
Define hypospadias?
Hypospadias is a common birth defect where the urethra is located in an abnormal position on the ventral surface of the penis
349
What may hypospadias additionally present with?
Cryptorchidism (10%) Inguinal hernia
350
What is the management for hypospadias?
Corrective surgery at 12 months old Essential child is NOT circumsised prior to surgery
351
Define phimosis?
Phimosis is the inability to retract the foreskin (distal prepuce) proximally over the glans penis
352
What is the management for phimosis?
Reassurance and hygiene Topical corticosteroids Preputial surgery e.g, circumcision or preputioplasty
353
Define vesicoureteric reflux?
Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney
354
What does vesicoureteric reflux predispose children to?
UTI - found in 30% of patients that present with UTI
355
What are the investigations for vesicoureteric reflux?
Urinalysis - first line Micturating cystourethrogram - Gold standard
356
What is the management for vesicoureteric reflux?
Active surveillance Prophylactic antibiotics Surgical management
357
What is grade I vesicoureteric reflux?
Reflux into the ureter only, no dilatation
358
What is grade II vesicoureteric reflux?
Reflux into the renal pelvis on micturition, no dilatation
359
What is grade III vesicoureteric reflux?
Mild/moderate dilatation of the ureter, renal pelvis and calyces
360
What is grade IV vesicoureteric reflux?
Dilation of the renal pelvis and calyces with moderate ureteral tortuosity
361
What is grade V vesicoureteric reflux?
Gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity
362
What is the classic triad seen in haemolytic ureamic syndrome?
Acute kidney injury Microangiopathic haemolytic anaemia Thrombocytopenia
363
What are most cases of HUS secondary to?
Classically Shiga toxin-producing Escherichia coli (STEC) 0157:H7 (90% of cases) Pneumococcal infection HIV
364
What are the investigations for HUS?
FBC - normocytic anaemia, thrombocytopaenia, schistocytes and helmet cells Coomb's test negative U&Es Stool culture
365
What is the management for HUS?
Supportive - fluids, blood transfusion, dialysis No need for antibiotics
366
What is the classic triad seen in nephrotic syndrome?
Proteinuria (> 3g/24hr) causing Hypoalbuminaemia (< 30g/L) and Oedema Hypertension can also be seen
367
What are the different nephrotic syndromes?
Diabetic nephropathy (most common in adults) Amyloidosis Minimal change disease Focal segmental glomerulosclerosis Membranous neuropathy Membranoproliferative neuropathy
368
Define amyloidosis?
Amyloidosis refers to the disease state caused by abnormal amyloid protein deposits in organs
369
Define minimal change disesae?
Condition in which the kidneys leak large amounts of protein. It is called "minimal change" because the damage to the kidneys cannot be seen under a microscope.
370
What is the most common cause of nephrotic syndrome in children?
Minimal change disease
371
What is the management for minimal change disease?
Prednisolone - 80% of cases respond Cyclophosphamide if not
372
What are the causes of focal segmental glomerulosclerosis?
Idiopathic Secondary to other renal pathology e.g. IgA Nephropathy, reflux nephropathy HIV Heroin Alport's syndrome Sickle-cell disease
373
What are the investigations for focal segmental glomerulosclerosis?
Renal biopsy: Focal and segmental sclerosis and hyalinosis on light microscopy Effacement of foot processes on electron microscopy
374
Which nephrotic syndrome has a high recurrence when renal transplant is performed?
Focal segmental glomerulosclerosis
375
What is the management for focal segmental glomerulosclerosis?
Steroids +/- immunosuppressants - there is an inconstant response
376
Define membranoproliferative glomerulonephritis?
A nephroticand nephritic syndrome in which there is proliferation of mesangial and endothelial cells in the glomerulus
377
What is the management for membranoproliferative glomerulonephritis?
Steroids
378
What are the overall complications of nephrotic syndrome?
Increased risk of thromboembolism related to loss of antithrombin III and plasminogen in the urine Hyperlipidaemia CKD Infection Hypocalcaemia
379
What is the classic triad classically seen in nephritis syndrome?
Haematuria Hypertension Oedema
380
Define post-streptococcal glomerulonephritis?
A type of nephritic syndrome which typically occurs 7-14 days following a group A beta-haemolytic Streptococcus infection. Caused by immune complex (IgG, IgM and C3) deposition in the glomeruli
381
List some different types of nephritis syndrome?
Post-streptococcal glomerulonephritis IgA nephropathy Goodpasture's syndrome SLE Diffuse proliferative glomerulonephritis Rapidly progressive glomerulonephritis Alport syndrome
382
What organism usually causes post-streptococcal glomerulonephritis?
Streptococcus pyogenes
383
What are the investigations for post-streptococcal glomerulonephritis?
Bloods - Raised anti-streptolysin O titre and low C3
384
What is the management for post-streptococcal glomerulonephritis?
Furosemide for hypertension
385
Define IgA nephropathy?
Also known as Berger's disease Thought to be caused by mesangial deposition of IgA immune complexes
386
What are the classical features of IgA nephropathy?
Young male, recurrent episodes of macroscopic haematuria Typically associated with a recent URTI
387
How may you distinguish between post-streptococcal glomerulonephritis and IgA nephropathy?
IgA will occur 1-2 days following sore throat rather than 1-2 weeks in post-streptococcal glomerulonephritis
388
What is the management for IgA nephropathy with isolated haematuria and no / minimal proteinuria?
No treatment needed, other than follow-up to check renal function
389
What is the management for IgA nephropathy with haemoaturia, proteinuria, and normal / slightly reduced GFR?
Initial treatment is with ACE inhibitors
390
What is the management for IgA nephropathy with haemoaturia, proteinuria, and falling GFR?
Immunosuppression with corticosteroids
391
Define Alport syndrome?
A genetic disease in which there’s a mutation in the gene COL4A5 that codes for type IV collagen
392
What is the inheritance pattern of Alport syndrome?
most commonly X-linked therefore more common in males, Female disease is more severe
393
What is the management for Alport syndrome?
ACEi is renoprotective Renal replacement therapy - dialysis and transplant
394
What are the features of eczema younger children?
Itchy, erythematous rash on the extensor surfaces The face and the trunk are most affected
395
What are the features of eczema in older children?
Itchy, erythematous rash on the flexor surfaces and the creases of the neck and face
396
When is the typical presentation of eczema and when does it usually clear?
It typically presents before 2 years old. Clears in around 50% of children by 5 years of age. Clears in around 75% of children by 10 years of age.
397
What is the general management for eczema?
Avoid irritants Steroid creams and emollients - increased in stepwise manner from weakest to strongest Wet wrapping
398
What is the mild topical steroid used in eczema?
Hydrocortisone 0.5-2.5%
399
What is the moderate topical steroid used in eczema?
Betamethasone valerate 0.025% (Betnovate RD) Clobetasone butyrate 0.05% (Eumovate)
400
What is the potent topical steroid used in eczema?
Fluticasone propionate 0.05% (Cutivate) Betamethasone valerate 0.1% (Betnovate)
401
What is the very potent tropical steroid used in eczema?
Clobetasol propionate 0.05% (Dermovate)
402
What is the mnemonic used for stepwise management of topical steroids in eczema?
Help Every Budding Dermatologist Hydrocortisone (mild) Eumovate (moderate) Betnovate 0.1 (potent) Dermovate (very potent)
403
What are the features of TEN?
Systemically unwell e.g. pyrexia, tachycardic Positive Nikolsky's sign: the epidermis separates with mild lateral pressure Surface area >30% = TEN Surface area <10% = SJS
404
What drugs can induce TEN?
PePSi CAN (Pe)nicillins P()henytoin (S)ulphonamides (C)arbamazepine (A)llopurinol (N)SAIDs
405
What is the management of TEN?
Stop precipitating factor Supportive care - ICU, volume loss and electrolyte derangement are potential complications IV imunoglobulin
406
What is allergic rhinitis?
Allergic rhinitis (AR) is an immunoglobulin E (IgE)-mediated type 1 hypersensitivity inflammatory nasal condition resulting from allergen exposure in a sensitised individual.
407
What are the three types of allergic rhinitis?
Seasonal - same time every year Perennial - throughout the year Occupational - within work place
408
What are the features of allergic rhinitis?
Sneezing Bilateral nasal obstruction Clear nasal discharge Post-nasal drip Nasal pruritus
409
What is the management for allergic rhinitis?
Allergen avoidance Oral or intranasal antihistamines Severe - intranasal corticosteroids
410
What is urticaria?
Urticaria describes a local or generalised superficial swelling of the skin. Most common cause is allergy.
411
What are the features of urticaria?
Pale, pink raised skin. Variously described as 'hives', 'wheals', 'nettle rash' Pruritic
412
What is the management for urticaria?
Non-sedating antihistamines - continued for up to 6 weeks are first line Sedating may be considered for night time use
413
What is the management for severe urticaria?
Prednisolone
414
Give some examples of sedating and non-sedating antihistamines?
Non-sedating antihistamines (e.g. loratadine or cetirizine) Sedating antihistamines (e.g. chlorophenamine)
415
What drugs can commonly cause urticaria?
All People Need Oxygen: Aspirin Penicillins NSAIDs Opiates
416
Define analphylaxis?
Anaphylaxis may be defined as a severe, life-threatening, generalised or systemic hypersensitivity reaction
417
What are some examples of causes of anaphylaxis?
Food (e.g. nuts) most common in children Drugs Insect venom (e.e. wasp sting)
418
What are the features of anaphylaxis?
Airway and/or Breathing and/or Circulation problems Airway - Swelling of throat and tongue Breathing - Wheeze and dyspnoea Circulation - Hypotension and tachycardia
419
What is the immediate management of anaphylaxis for the specific age ranges?
<6 months - 100-150 μg adrenaline 6 months - 6 years - 150 μg adrenaline 6-12 years - 300 μg adrenaline >12 years - 500μg adrenaline Can be repeated every 5 minutes if necessary
420
Where should adrenaline injection be given for anaphylaxis?
Anterolateral aspect of the middle third of the thigh
421
Give an overview of measles?
RNA paramyxovirus Spread via aerosol transmission Infective from prodromal phase until 4 days after rash starts
422
What is the incubation period of measles?
10-14 days
423
What features does the prodromal phase of measles have?
Irritable Conjunctivitis Fever
424
What are the classic features of measles?
Koplik spots before the rash develops (white spots) Rash - behind ears then whole body Diarrhoea
425
Describe the rash seen in measles?
Discrete maculopapular rash becoming blotchy & confluent desquamation that typically spares the palms and soles may occur after a week
426
What are the investigations for measles?
IgM antibodies detected within a few days of rash onset
427
What is the management for measles?
Supportive mainly Admission if immunocompromised or pregnant Notifiable disease so inform public health
428
What is the most common complication of measles?
Otitis media
429
What is the most common form of death in measles?
Pneumonia
430
What is the management for individuals who have come into contact with measles?
Offer MMR vaccine Should be given within 72 hours
431
What is the causative pathogen of chickenpox?
Primary infection with varicella zoster virus
432
What is the causative pathogen of shingles?
Reactivation of varicella zoster virus from dorsal root ganglion
433
Give an overview of chickenpox?
Spread via the respiratory route Can be caught by someone with shingles infective from 4 days before rash until 5 days after rash appeared
434
What is the incubation period for chickenpox?
10-21 days
435
What are the clinical features of chickenpox?
Prodromal phase - fever initially Itchy, rash starting on head/trunk before spreading. Systemic upset is usually mild
436
Describe the rash seen in chickenpox?
Initially macular then papular then vesicular
437
What is the management for chickenpox?
Keep cool Trim nails School exclusion until all lesions are dry and have crusted over
438
What demographic of patients should receive varicella zoster immunoglobulin (VZIG)?
Immunocompromised patients Newborns with peripartum exposure If chickenpox develops = IV aciclovir
439
What is a common complication of chickenpox? What may increase the risk of this?
Secondary bacterial infection particularly invasive group A streptococcal soft tissue infections may occur resulting in necrotising fasciitis NSAIDs
440
Give an overview of rubella?
aka German measles Togavirus Outbreaks are more common in winter and spring Individuals are infectious from 7 days before symptoms to 4 days after rash onset
441
What are the features of rubella?
Prodromal phase - low-grade fever Rash on the face then whole body - fades by day 3-5 Lymphadenopathy
442
Describe the rash seen in rubella?
Maculopapular
443
What are some complications of rubella?
Arthritis Thrombocytopenia Encephalitis Myocarditis
444
What is the incubation period for rubella?
14-21 days
445
What is the rule surrounding the MMR vaccine and pregnancy?
MMR vaccines should not be administered to women known to be pregnant or attempting to become pregnant
446
What is the management of rubella?
Supportive care - NSAIDs Notification to public health Children kept off school for 5 days after rash appears
447
What are the features of poliovirus?
Usually asymptomatic. When symptomatic, the most common presentation is a minor gastrointestinal illness.
448
Give an overview of poliovirus?
Enterovirus Spread through faeco-oral transmission
449
What is the management for poliovirus?
Supportive care
450
What pathogen causes slapped cheek syndrome?
Parovirus B19
451
What pathogen causes erythema infectiosum?
Parovirus B19
452
Give an overview of slapped cheek syndrome?
DNA virus Respiratory route spread Infectious 3-5 days before rash - therefore no need for school exclusion
453
What is the most likely infective cause of an aplastic crisis in sickle-cell disease?
Parovirus B19
454
What is the investigation for a pregnant mother that has been exposed to parovirus B19?
Maternal IgM and IgG
455
What are the features of slapped cheek syndrome?
Rose red rash on cheeks which may spread to the rest of the body
456
What is the incubation period of roseola?
5-15 days
457
Define roseola? What is the causative pathogen?
Roseola infantum is a common disease of infancy caused by the human herpes virus 6 (HHV6)
458
What are the features of roseola?
High fever: lasting a few days, followed later by a maculopapular rash Nagayama spots: papular enanthem on the uvula and soft palate Febrile convulsions occur in around 10-15% Diarrhoea and cough
459
Is school exclusion necessary for roseola?
School exclusion is not needed
460
Define impetigo?
Impetigo is a superficial bacterial skin infection
461
What organisms can cause impetigo?
Staphylcoccus aureus Streptococcus pyogenes
462
Where does impetigo tend to occur on the body?
Areas not covered by clothes: Face Flexures Limbs
463
What is the incubation period for impetgo?
4 to 10 days
464
What are the features of impetigo?
Golden crust to the skin Very contagious
465
What is the management for non-bullous impetigo?
First line - hydrogen peroxide 1% cream Topical fusidic acid
466
What is the management for extensive impetigo?
Oral flucloxacillin Oral erythromycin if allergy
467
What is the rule about schooling and impetigo?
Children should be excluded from school until the lesions are crusted and healed OR 48 hours after commencing antibiotic treatment
468
What pathogens can cause hand, foot and mouth disease?
Coxsackie virus A16 Enterovirus 71
469
What are the features of hand, foot and mouth disease?
Mild systemic upset: sore throat, fever Oral ulcers Followed later by vesicles on the palms and soles of the feet
470
What is the management for hand, foot and mouth disease?
Symptomatic treatment only Children to not need to be excluded from school
471
What does ART for HIV entail?
A combination of at least three drugs, typically two nucleoside reverse transcriptase inhibitors (NRTI) and either a protease inhibitor (PI) or a non-nucleoside reverse transcriptase inhibitor (NNRTI).
472
When should ART be commenced for patients with HIV?
Following the 2015 BHIVA guidelines it is now recommended that patients start ART as soon as they have been diagnosed with HIV, rather than waiting until a particular CD4 count, as was previously advocated.
473
Give some examples of entry inhibitors used in ART? How do they work?
Maraviroc Enfuvirtide Prevent HIV-1 from entering and infecting cells.
474
What is the mechanism of action of the entry inhibitor Maraviroc?
Binds to CCR5, preventing an interaction with gp41
475
What is the mechanism of action of the entry inhibitor Enfuvirtide?
Binds to gp41, also known as a 'fusion inhibitor'
476
Give some examples of NRTIs used in ART?
'vu' in the middle or 'vir' at the end Zidovudine (AZT) Abacavir Emtricitabine Didanosine Lamivudine Stavudine Zalcitabine Tenofovir
477
What are the general side effects of NRTIs?
Peripheral neuropathy
478
What are the side effects of the NRTI tenofovir?
Renal impairment Ostesoporosis
479
What are the side effects of the NRTI zidovudine?
Anaemia Myopathy Black nails
480
What are the side effects of the NRTI didanosine?
Pancreatitis
481
What are some examples of NNRTIs used in ART?
'vir' in the middle Nevirapine Efavirenz
482
What are the side effects of the NNRTI nevirapine?
P450 enzyme interaction and rashes
483
What is the side effect of efavirenz?
Rashes
484
What are some examples of protease inhibitors used in ART?
All end in 'navir' Indinavir Nelfinavir Ritonavir Saquinavir
485
What are the side effects of protease inhibitors used in ART?
Diabetes Hyperlipidaemia Buffalo hump Central obesity P450 enzyme inhibition
486
What are the side effects of the protease inhibitor indinavir?
Renal stones Asymptomatic hyperbilirubinaemia
487
What are the side effects of the protease inhibitor ritonavir?
A potent inhibitor of the P450 system
488
What is the mechanism of action of integrase inhibitors for ART?
Block the action of integrase, a viral enzyme that inserts the viral genome into the DNA of the host cell
489
What are some examples of integrase inhibitors used in ART?
'tegra' in the middle Raltegravir Elvitegravir Dolutegravir
490
What is the investigation for HIV infection?
Combination tests (HIV p24 antigen and HIV antibody) If the combined test is positive it should be repeated to confirm the diagnosis
491
When should a HIV test be performed after possible exposure?
4 weeks and a repeat test at 12 weeks if negative.
492
What is the most common cause of oesophagitis in patients with HIV?
Oesophageal candidiasis
493
What are the features of HIV seroconversion?
Sore throat Lymphadenopathy Malaise, myalgia, arthralgia Diarrhoea Maculopapular rash Mouth ulcers
494
What should happen if a patient with HIV has a CD4 count of < 200/mm³?
All patients with a CD4 count < 200/mm³ should receive PCP prophylaxis
495
What is the management of pneumocystis jiroveci?
Co-trimoxazole (trimethoprim and sulfamethoxazole) IV pentamidine in severe cases
496
What should happen if a patient with HIV has a CD4 count of < 50/mm³?
All patients with a CD4 count < 50/mm³ should receive mycobacterium avium complex prophylaxis
497
What is the pharmacological prophylaxis management for mycobacterium avian complex?
Azithromycin
498
What pathogen causes diptheria?
Corynebacterium diphtheriae via endotoxins
499
Corynebacterium diphtheriae causes which disease?
Diptheria
500
What is the management for diptheria?
Diptheria antitoxin Azithromycin and clarithromycin
501
What is scalded skin syndrome?
A superficial blistering of the skin caused by a type of staphylococcus aureus bacteria that produces epidermolytic toxins
502
What is pertussis? What is the causative pathogen?
Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis
503
What are the features of pertussis in the catarrhal phase?
URTI symptoms
504
What are the features of pertussis in the paroxysmal phase?
Cough increases in severity Worse at night or after feeding Inspiratory whoop Infants may have spells of apnoea
505
What are the features of the convalescent phase in pertussis infection?
Cough will subside over weeks to months
506
What is the diagnostic criteria for whooping cough?
Acute cough >14 days AND one of following: Paroxysmal cough Inspiratory whoop Post-tussive vomiting undiagnosed apnoeic attacks in children
507
What is the management for pertussis?
An oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) Notify public health
508
Define tuberculosis?
Tuberculosis (TB) is an infection caused by Mycobacterium tuberculosis that most commonly affects the lungs
509
What is primary tuberculosis?
A primary infection of the lungs. A small lung lesion known as a Ghon focus develops. The Ghon focus is composed of tubercle-laden macrophages. Ghon focus + hilar lymph nodes = Ghon complex
510
What is secondary tuberculosis?
If the host becomes immunocompromised the initial infection may become reactivated. Reactivation generally occurs in the apex of the lungs and may spread locally or to more distant sites
511
What is latent tuberculosis?
Patients with latent tuberculosis are asymptomatic and non-infectious.
512
What are the investigations for latent tuberculosis?
Tuberculin skin test - positive Interferon-Gamma Release Assay (IGRA) or Mantoux test combined with a normal chest X-ray - rules out active tuberculosis
513
What is the management for latent tuberculosis?
3 months of isoniazid (with pyridoxine) and rifampicin, OR 6 months of isoniazid (with pyridoxine)
514
What are the findings on a chest X-ray for active tuberculosis?
Upper lobe cavitation is the classical finding of reactivated TB Bilateral hilar lymphadenopathy
515
What is the gold standard investigation for tuberculosis?
Sputum culture: More sensitive than sputum smear and NAAT Can test drug sensitivities
516
What is the first line investigation for tuberculosis?
Sputum smear: Inexpensive and rapid 3 specimens are needed All mycobacteria stain positive (Zeihl-Neelsen stain) Decreased sensitivity in HIV patients
517
What is the management for active tuberculosis infection?
Rifampicin Isoniazid Pyrazinamide - only for first 2 months Ethambutol - only for first two months
518
What are the side-effects of rifampicin?
Orange urine Hepatotoxicity
519
What are the side effects of isonazid?
Peripheral toxicity - pyridoxine is used to prevent (vitamin B6) Hepatotoxicity
520
What are the side effects of pyrazinamide?
Hyperuricaemia causing gout Hepatotoxicity
521
What are the side effects of ethambutol?
Optic neuritis
522
What is scarlet fever?
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes)
523
What is the incubation period of scarlet fever?
2-4 days
524
How is scarlet fever spread?
Via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).
525
What are the features of scarlet fever?
Fever: typically lasts 24 to 48 hours Malaise, headache, nausea/vomiting Sore throat 'Strawberry' tongue Rash
526
Describe the rash seen in scarlet fever?
Fine punctate erythema ('pinhead') which generally appears first on the torso and spares the palms and soles 'Sandpaper' texture
527
What is the first line management for scarlet fever?
Penicillin V for 10 days
528
What is the second line management for scarlet fever?
Azithromycin
529
What are the rules surrounding scarlet fever and schooling?
Can return to school 24 hours after commencing antibiotics Public health will need to be informed
530
What is the most common complication of scarlet fever?
Otitis media
531
What is toxic shock syndrome?
Staphylococcal toxic shock syndrome describes a severe systemic reaction to staphylococcal exotoxins, the TSST-1 superantigen toxin
532
What are the features of toxic shock syndrome?
Fever Hypotension Rash -> Desquamation
533
What is the management of toxic shock syndrome?
Clindamycin and benzylpenecillin
534
What is Kawasaki disease?
Kawasaki disease is a type of vasculitis which is predominately seen in children
535
What are the features of Kawasaki disease?
High grade fever >5 days CRASH: Conjunctival injection Rash - bright red, cracked lips Adenopathy - enlarge cervical lymph nodes Strawberry tongue Hands and feet rash - later peels
536
What is the management for Kawasaki disease?
High-dose aspirin IV imunoglobulins
537
What is the main complication of Kawasaki disease?
Coronary artery aneurysm therefore an ECHO should be performed
538
What are the main organisms that cause meningitis in neonates to 3 months old?
Group B Streptococcus: usually acquired from the mother at birth. E. coli and other Gram -ve organisms Listeria monocytogenes
539
What are the main organisms that cause meningitis in 1 month to 6 year olds?
Neisseria meningitidis (meningococcus) Streptococcus pneumoniae (pneumococcus) Haemophilus influenzae
540
What are the main organisms that cause meningitis in children over 6 years old?
Neisseria meningitidis (meningococcus) Streptococcus pneumoniae (pneumococcus)
541
What are the main features of meningitis?
Headache Fever Nausea/vomiting Photophobia Drowsiness Seizures Neck stiffness Purpuric rash
542
What is the management for meningitis for children under 3 months old?
IV amoxicillin (or ampicillin) + IV cefotaxime
543
Who should be offered prophylaxis for meningitis?
Offered to households and close contacts of patients affected with meningococcal meningitis
544
What is the management for viral meningitis?
Ceftriaxone and aciclovir intravenously
545
What is the most common cause of viral meningitis in adults?
Non-polio enteroviruses e.g. coxsackie virus, echovirus
546
What is the most common complication of meningitis?
Sensorineural hearing loss
547
What is contraindicated in meningococcal septicaemia?
Lumbar puncture
548
What is the management for meningitis for children over 3 months old?
IV cefotaxime (or ceftriaxone)
549
What are the findings in CSF fluid for bacterial meningitis?
Cloudy Low glucose (< 1/2 plasma) High protein 10-5,000 polymorphs/mm³
550
What are the findings in CSF fluid for viral meningitis?
Clear/cloudy 60-80% of plasma glucose Normal/raised protein 15-1,000 lymphocytes/mm³
551
What are the findings in CSF for tuberculosis meningitis?
Slight cloudy, fibrin web Low glucose (< 1/2 plasma) High protein 10-1,000 lymphocytes/mm³
552
CSF fluid for suspected meningitis: Cloudy Low glucose (< 1/2 plasma) High protein 10-5,000 polymorphs/mm³ What type of pathogen is involved?
Bacterial meningitis
553
CSF fluid for suspected meningitis: Clear/cloudy 60-80% of plasma glucose Normal/raised protein 15-1,000 lymphocytes/mm³ What type of pathogen is involved?
Viral meningitis
554
CSF fluid for suspected meningitis: Slight cloudy, fibrin web Low glucose (< 1/2 plasma) High protein 10-1,000 lymphocytes/mm³ What type of pathogen is involved?
Tuberculosis meningitis
555
When should dexamethasone NOT be given to children for meningitis?
Under 3 months old
556
Define encephalitis?
Encephalitis describes inflammation of the brain parenchyma. It mostly affects frontal and temporal lobes
557
What pathogen typically causes encephalitis?
Herpes simplex 1 (95%)
558
What is the management for encephalitis?
IV acyclovir
559
What type of organism is E. coli?
Gram negative rod
560
What type of organism is Listeria monocytogenes?
Gram positive rod
561
What type of organism is Neisseria meningitidis?
Gram negative diplococci
562
What type of organism is Streptococcus pneumoniae?
Gram positive diplococci/chain
563
What type of organism is Haemophillus influenzae?
Gram negative coccobacilli
564
Suspected bacterial meningitis: an LP should be done before IV antibiotics, unless?
Cannot be done within 1 hour Signs of severe sepsis or a rapidly evolving rash Significant bleeding risk Signs of raised intracranial pressure
565
What are the four areas of developmental assessment?
Gross motor Fine motor Language delay Social
566
What should a child be able to do at 3 months in terms of gross motor milestones?
Little or no head lag on being pulled to sit Lying on abdomen, good head control Held sitting, lumbar curve
567
What should a child be able to do at 6 months in terms of gross motor milestones?
Lying on abdomen, arms extended Lying on back, lifts and grasps feet Pulls self to sitting Held sitting, back straight Rolls front to back
568
What should a child be able to do at 7-8 months in terms of gross motor milestones?
Sits without support (Refer at 12 months)
569
What should a child be able to do at 9 months in terms of gross motor milestones?
Pulls to standing Crawls
570
What should a child be able to do at 12 months in terms of gross motor milestones?
Cruises Walks with one hand held
571
What should a child be able to do at 13-15 months in terms of gross motor milestones?
Walks unsupported (Refer at 18 months)
572
What should a child be able to do at 18 months in terms of gross motor milestones?
Squat to pick up a toy
573
What should a child be able to do at 2 years in terms of gross motor milestones?
Runs Walks upstairs and downstairs holding on to rail
574
What should a child be able to do at 3 years in terms of gross motor milestones?
Rides a tricycle using pedals Walks up stairs without holding on to rail
575
What should a child be able to do at 4 years in terms of gross motor milestones?
Hops on one leg
576
What should a child be able to do at 3 months in terms of speech and hearing milestones?
Quietens to parents voice Turns towards sound Squeals
577
What should a child be able to do at 6 months in terms of speech and hearing milestones?
Double syllables 'adah', 'erleh'
578
What should a child be able to do at 9 months in terms of speech and hearing milestones?
Says 'mama' and 'dada' Understands 'no'
579
What should a child be able to do at 12 months in terms of speech and hearing milestones?
Knows and responds to own name
580
What should a child be able to do at 12-15 months in terms of speech and hearing milestones?
Knows about 2-6 words (Refer at 18 months) Understands simple commands - 'give it to mummy'
581
What should a child be able to do at 2 years in terms of speech and hearing milestones?
Combine two words Points to parts of the body
582
What should a child be able to do at 2.5 years in terms of speech and hearing milestones?
Vocabulary of 200 words
583
What should a child be able to do at 3 years in terms of speech and hearing milestones?
Talks in short sentences (e.g. 3-5 words) Asks 'what' and 'who' questions Identifies colours Counts to 10 (little appreciation of numbers though)
584
What should a child be able to do at 4 years in terms of speech and hearing milestones?
Asks 'why', 'when' and 'how' questions
585
What should a child be able to do at 3 months in terms of fine motor and vision milestones?
Reaches for object Holds rattle briefly if given to hand Visually alert, particularly human faces Fixes and follows to 180 degrees
586
What should a child be able to do at 6 months in terms of fine motor and vision milestones?
Holds in palmar grasp Pass objects from one hand to another Visually insatiable, looking around in every direction
587
What should a child be able to do at 9 months in terms of fine motor and vision milestones?
Points with finger Early pincer
588
What should a child be able to do at 12 months in terms of fine motor and vision milestones?
Good pincer grip Bangs toys together
589
Describe fine motor and vision milestones for children using bricks?
15 months - Tower of 2 18 months - Tower of 3 2 years - Tower of 6 3 years - Tower of 9
590
Describe fine motor and vision milestones for children with drawing?
18 months - Circular scribble 2 years - Copies vertical line 3 years - Copies circle 4 years - Copies cross 5 years - Copies square and triangle
591
Describe fine motor and vision milestones for children in terms of a book?
15 months - Looks at book, pats page 18 months - Turns pages, several at time 2 years - Turns pages, one at time
592
Describe the generic social behaviour and interaction milestones?
6 weeks - Smiles (Refer at 10 weeks) 3 months - Laughs, enjoys friendly handling 6 months - Not shy 9 months - Shy, takes everything to mouth
593
Describe social behaviour and interaction milestones in terms of feeding?
6 months - May put hand on bottle when being fed 12-15 months - Drinks from cup + uses spoon, develops over 3 month period 2 years - Competent with spoon, doesn't spill with cup 3 years - Uses spoon and fork 5 years - Uses knife and fork
594
Describe social behaviour and interaction milestones in terms of dressing?
12-15 months - Helps getting dressed/undressed 18 months - Takes off shoes, hat but unable to replace 2 years - Puts on hat and shoes 4 years - Can dress and undress independently except for laces and buttons
595
Describe social behaviour and interaction milestones in terms of play?
9 months - Plays 'peek-a-boo' 12 months - Waves 'bye-bye', plays 'pat-a-cake' 18 months
596
Define epilepsy?
Epilepsy is a common neurological condition characterised by recurrent seizures
597
How is a seizure classified?
1. Where seizures begin in the brain 2. Level of awareness during a seizure 3. Other features of seizures
598
What is a focal seizure?
Start in a specific area, on one side of the brain. The level of awareness can vary in focal seizures. Can also be either motor or non-motor.
599
What is a generalised seizure?
Involve networks on both sides of the brain at the onset. Consciousness lost immediately. Can be further subdivided into motor (e.g. tonic-clonic) and non-motor (e.g. absence)
600
What are the different types of generalised seizures?
Tonic-clonic (grand mal) Tonic Clonic Typical absence (petit mal) Myoclonic Atonic
601
What is a focal to bilateral seizure?
Starts on one side of the brain in a specific area before spreading to both lobes
602
What is a postictal phase in a seizure?
Where the person is confused, drowsy and feels irritable or depressed for around 15 minutes
603
What is a tonic seizure?
The muscles become stiff and flexed, which can cause the patient to fall, usually backwards
604
What is an atonic seizure?
Aka drop attacks. The muscles suddenly relax and become floppy, which can cause the patient to fall, usually forward.
605
What is a clonic seizure?
Clonic seizures: violent muscle contractions (convulsions)
606
What is a tonic-clonic seizure?
There is loss of consciousness and tonic (muscle tensing) and clonic (muscle jerking) episodes. Typically the tonic phase comes before the clonic phase.
607
What is a myoclonic seizure?
Short muscle twitches. The patient usually remains awake during the episode. Typically happen in children as part of juvenile myoclonic epilepsy.
608
What is an absence seizure?
Aka petit mal seizures, impaired awareness or responsiveness. Patient becomes blank and stares into space before returning to normal.
609
What are the main investigations following a seizure?
Following their first seizure patients generally have both an electroencephalogram (EEG) and neuroimaging (usually a MRI)
610
What is the management for generalised tonic-clonic seizures in males?
Sodium valproate
611
What is the management for generalised tonic-clonic seizures in females?
Lamotrigine or levetiracetam Girls aged under 10 years and who are unlikely to need treatment when they are old enough to have children or women who are unable to have children may be offered sodium valproate first-line
612
What is the first line management for focal seizures?
Lamotrigine or levetiracetam
613
What is the second line management for focal seizures?
Carbamazepine, oxcarbazepine or zonisamide
614
What is the first line management for absence (petit mal) seizures?
Ethosuximide
615
What is the second line management for absence (petit mal) seizures in males?
Sodium valproate
616
What is the second line management for absence (petit mal) seizures in females?
Lamotrigine or levetiracetam
617
What drug may exacerbate absence seizures?
Carbamazepine
618
What is the management for myoclonic seizures in males?
Sodium valproate
619
What is the management for myoclonic seizures in females?
Levetiracetam
620
What is the management for tonic or atonic seizures in males?
Sodium valproate
621
What is the management for tonic or atonic seizures in females?
Lamotrigine
622
What is a febrile convulsion?
Febrile convulsions are seizures provoked by fever in otherwise normal children
623
What is a simple febrile convulsion?
< 15 minutes Generalised seizure No reoccurrence Complete recovery within the hour
624
What is a complex febrile seizure?
15-30 minutes Focal seizure May have repeated seizures
625
What is febrile status epileptics?
> 30 minutes in duration
626
What is the management for recurrent febrile convulsions in the community?
Benzodiazepine rescue medication: Rectal diazepam Buccal midazolam
627
What is the management for status epilepticus convulsions in the community?
Benzodiazepine rescue medication: Rectal diazepam Buccal midazolam
628
What is the rescue management for status epilepticus convulsions in a hospital setting?
IV lorazepam
629
Define autism?
A triad of communication impairment + impairment of social relationships + ritualistic behaviour
630
A triad of communication impairment + impairment of social relationships + ritualistic behaviour would indicate what?
Autism
631
What is ADHD?
A condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent.
632
What would some features of inattention be?
Does not follow instructions Reluctant to engage in mentally-intense tasks Easily distracted Finds it difficult to sustain tasks Finds it difficult to organise tasks or activities Often forgetful in daily activities Often loses things necessary for tasks or activities Often does not seem to listen when spoken to directly
633
What would some features of hyperactivity be?
Unable to play quietly Talks excessively Does not wait their turn easily Will spontaneously leave their seat when expected to sit If often 'on the go' Often interruptive or intrusive to others Will answer prematurely, before a question has been finished Will run and climb in situations where it is not appropriate
634
What is the first-line management for ADHD?
10 week period of 'watch and wait' to observe whether symptoms change or resolve
635
What are the conditions of providing pharmacological therapy for patients with ADHD?
Used as a last resort, and is only available to those that are aged 5 and over.
636
What is the first line pharmacological treatment for ADHD in children?
Methylphenidate on a 6 week trial basis
637
What type of drug is methylphenidate?
It is a CNS stimulant which primarily acts as a dopamine/norepinephrine reuptake inhibitor
638
What are some side effects of methylphenidate?
Abdominal pain, nausea and dyspepsia. In children, weight and height should be monitored every 6 months
639
What are the first line pharmacological agents for ADHD in adults?
Methylphenidate or lisdexamfetamine are first-line options. Switch between drugs if the other fails
640
What is the second line pharmacological agent for ADHD in children?
Lisdexamfetamine
641
What is a third line pharmacological agent for ADHD in children?
Dexamfetamine - only in those who have benefited from lisdexamfetamine, but who can't tolerate its side effects.
642
What is a MAJOR side effect of methylphenidate and lisdexamfetamine?
Cardiotoxicity - Perform a baseline ECG before starting treatment, and refer to a cardiologist if there is any significant past medical history or family history, or any doubt or ambiguity.
643
Is ADHD more common in boys or girls?
Boys by a ratio of 4:1
644
How many features must a 16 year old have if they are to be diagnosed with ADHD?
Up to 16 years old - 6 features must be present.
645
How many features must a patient have if they are older than 17 years old, to be diagnosed with ADHD?
Over 17 years old - 5 features must be present.
646
What is the most common cause of child and adolescent admission to psychiatry wards?
Anorexia nervosa
647
What is anorexia nervosa?
Anorexia nervosa (AN) is an eating disorder characterised by restriction of caloric intake leading to low body weight, an intense fear of gaining weight, and a body image disturbance
648
What is first line management for anorexia nervosa in children?
Anorexia focussed family therapy
649
What is second line management for anorexia nervosa in children?
Individual eating-disorder-focused cognitive behavioural therapy (CBT-ED) Is first line in adults.
650
What is bulimia nervosa?
Bulimia nervosa is a type of eating disorder characterised by episodes of binge eating followed by intentional vomiting or other purgative behaviours such as the use of laxatives or diuretics or exercising
651
What is the management for bulimia nervosa?
Referral for specialist care Bulimia-nervosa-focused family therapy (FT-BN) Eating-disorder-focused cognitive behavioural therapy (CBT-ED) Bulimia-nervosa-focused guided self-help for adults
652
What pharmacological agent is currently liscensed for bulimia nervosa?
High dose Fluoxetine
653
What signs may be seen on a patient with bulimia nervosa?
Russel's sign - calluses on the knuckles or back of the hand due to repeated self induced vomiting Erosion of teeth
654
Define cryptorchidism?
A congenital undescended testis is one that has failed to reach the bottom of the scrotum by 3 months of age
655
What are the reasons for correction of cryptorchidism?
Reduce risk of infertility Allows the testes to be examined for testicular cancer Avoid testicular torsion Cosmetic appearance
656
What is the management of cryptorchidism?
Orchidopexy at 6- 18 months of age
657
What is testicular torsion?
Twist of the spermatic cord resulting in testicular ischaemia and necrosis.
658
What are the features of testicular torsion?
Pain is usually severe and of sudden onset May be referred to the abdomen Nausea and vomiting
659
On examination what would you see for testicular torsion?
Swollen, tender testis retracted upwards. The skin may be reddened Cremasteric reflex is lost Elevation of the testis does not ease the pain (Prehn's sign negative)
660
What is the management for testicular torsion?
Treatment is with urgent surgical exploration and bilateral orchiopexy (fixated to scrotal sac)
661
Define precocious puberty?
'development of secondary sexual characteristics before 8 years in females and 9 years in males'
662
What are the two types of precocious puberty?
1. Gonadotrophin dependent 2. Gonadotrophin independent
663
What is the cause of gonadotrophin dependent precocious puberty?
Due to premature activation of the hypothalamic-pituitary-gonadal axis FSH & LH raised
664
What is the cause of gonadotrophin independent precocious puberty?
Due to excess sex hormones FSH & LH low
665
How can size of testes indicate the cause of precocious puberty?
Bilateral enlargement = gonadotrophin release from intracranial lesion Unilateral enlargement = gonadal tumour Small testes = adrenal cause (tumour or adrenal hyperplasia)
666
What is primary hypothyroidism?
There is a problem with the thyroid gland itself, for example an autoimmune disorder affecting thyroid tissue
667
What is secondary hypothyroidism?
Usually due to a disorder with the pituitary gland (e.g.pituitary apoplexy) or a lesion compressing the pituitary gland
668
What are the general features of hypothyroidism?
Weight gain Lethargy Cold intolerance Constipation
669
What are the skin features of hypothyroidism?
Dry (anhydrosis), cold, yellowish skin Non-pitting oedema Dry, coarse scalp hair, loss of later aspect of eyebrows (Queen Anne's sign)
670
What is the gynaecological feature of hypothyroidism?
Menorrhagia
671
What are the neurological features of hypothyroidism?
Decreased deep tendon reflexes Carpal tunnel syndrome
672
What are the features of congenital hypothyroidism?
Prolonged neonatal jaundice Delayed mental/physical milestones Short stature Puffy face Hypotonia
673
What is the most common cause of hypothyroidism in children?
Autoimmune thyroiditis Most common in developing world - iodine deficiency
674
What would a TFT show for hypothyroidism?
High TSH Low T3 Low T4
675
What is the management for hypothyroidism?
Levothyroxine
676
What are the side-effects of thyroxine therapy?
Hyperthyroidism: due to over treatment Reduced bone mineral density Worsening of angina Atrial fibrillation
677
What is Kallmann's syndrome?
Kallmann's syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism
678
What is the inheritance pattern of Kallmann's syndrome?
X-linked recessive Therefore more common in males
679
What is the pathophysiology behind Kallmann's syndrome?
Thought to be caused by failure of GnRH-secreting neurones to migrate to the hypothalamus
680
What are the key features of Kallmann's syndrome?
'delayed puberty' Hypogonadism, cryptorchidism ANOSMIA Sex hormone levels are low LH, FSH levels are inappropriately low/normal Patients are typically of normal or above-average height Cleft lip and palete
681
What is the management for Kallmann's syndrome?
Testosterone in males Oestrogen-progestin supplementation in females
682
Describe the LH and Testosterone results in: Klinefelter's syndrome, Hypogonadotrophin hypogonadism, Androgen insensitivity syndrome?
Klinefelter's syndrome - high LH and low test Hypogonadotrophin hypogonadism - low LH and low test Androgen insensitivity syndrome - high LH and normal/high test
683
What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that impair adrenal steroid biosynthesis
684
How does congenital adrenal hyperplasia cause symptoms?
The deficiency in cortisol production leads to compensatory overproduction of adrenocorticotropic hormone (ACTH) by the anterior pituitary. Elevated ACTH levels increase the production of adrenal androgens, which can result in the virilization of female infants and affect genital development.
685
What are the different types of congenital adrenal hyperplasia?
21-hydroxylase deficiency (90% - most common) 17-hydroxylase deficiency (very rare) 11-beta hydroxylase
686
What is the investigation for congenital adrenal hyperplasia?
ACTH stimulation test - evaluates the adrenal gland's response to ACTH, with abnormal increases in 17OHP indicating CAH
687
What is the management for congenital adrenal hyperplasia?
Involves glucocorticoid replacement to reduce ACTH levels and minimize adrenal androgen production
688
What are the features of 21-hydroxylase deficiency type congenital adrenal hyperplasia?
Virilization of female genitalia Precocious puberty in males Salt losing crisis
689
What are the features of 11-beta-hydroxylase deficiency type congenital adrenal hyperplasia?
Virilisation of female genitalia Precocious puberty in males Hypertension Hypokalaemia
690
What are the features of 17-hydroxylase deficiency type congenital adrenal hyperplasia?
Non-virilising in females Inter-sex in boys Hypertension
691
At what percentile of BMI would clinical intervention be considered for obesity in children?
91st
692
At what percentile of BMI would assessment of co-morbidities be assessed in children?
98th
693
What are the risk factors for obesity in children?
Lifestyle factors Asian children Female children Taller children
694
What are the classifications of overweight, clinical obesity and severe obesity for children / young adults?
Overweight: BMI 91st centile Clinical obesity: BMI 98th centile Severe obesity: BMI 99.6th centile
695
Define alpha thalassaemia?
Alpha-thalassaemia is a autosomal recessive condition due to a deficiency of alpha chains in haemoglobin
696
Where are the alpha-globulin genes located?
2 separate alpha-globulin genes are located on each chromosome 16
697
Give an overview of alpha-thalassaemia where 1/2 alpha globulin alleles are affected?
If 1 or 2 alpha globulin alleles are affected then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal
698
Give an overview of alpha-thalassaemia where 3 alpha globulin alleles are affected?
If are 3 alpha globulin alleles are affected results in a hypochromic microcytic anaemia with splenomegaly. This is known as Hb H disease
699
Give an overview of alpha-thalassaemia where 4 alpha globulin alleles are affected?
If all 4 alpha globulin alleles are affected (i.e. homozygote) then death in utero (hydrops fetalis, Bart's hydrops)
700
What is the management for alpha-thalassaemia in severe cases?
Regular Blood Transfusions to maintain normal haemoglobin levels in severe cases. Chronic transfusion therapy may lead to iron overload, hence iron chelation therapy with drugs like Deferasirox or Deferoxamine is necessary
701
Define beta-thalassaemia?
Beta-thalassaemia trait is an autosomal recessive condition where there is deficiency in the production of the beta globulin chains of haemoglobin. characterised by a mild hypochromic, microcytic anaemia..
702
Where are the beta-globulin genes located?
Chromosome 11
703
What is beta-thalassaemia trait?
Where there is a reduced beta chain due to either promotor region mutations or splice sites.
704
What is beta-thalassaemia major?
Where there is absent beta chains due to either promotor region mutations or splice sites
705
What are the features of beta-thalassaemia major?
Presents in the first year of life with failure to thrive and hepatosplenomegaly
706
What is the management for beta-thalassaemia major?
Repeated blood transfusions Iron chelation therapy due to potential of iron overload
707
Define haemolytic disease of the newborn?
Also known as erythroblastosis fetalis, is a complex and potentially life-threatening condition arising from maternal-foetal blood group incompatibility.
708
What are the investigations for beta-thalassaemia?
Hb electrophoresis: HbA2 & HbF raised HbA absent FBC - Microcytic anaemia
709
Define sickle cell anaemia
Sickle-cell anaemia is a genetic condition that results for synthesis of an abnormal haemoglobin chain termed HbS
710
In what demographic is sick-cell anaemia more common and why?
It is more common in people of African descent as the heterozygous condition offers some protection against malaria
711
When do features of sickle-cell anaemia develop and why?
Symptoms in homozygotes don't tend to develop until 4-6 months when the abnormal HbSS molecules take over from fetal haemoglobin
712
What is the pathophysiology behind sick-cell anaemia?
Polar amino acid glutamate is substituted by non-polar valine in each of the two beta chains (codon 6). This decreases the water solubility of deoxy-Hb causing them to polymerase and 'sickle' where they haemolyse and block small vessels
713
What is the inheritance pattern of sickle cell anaemia?
Autosomal recessive
714
What is the investigation for sickle-cell anaemia?
Hb electrophoresis FBC Blood film
715
Define haemophilia, what is the inheritance pattern?
Haemophilia is an X-linked recessive disorder of coagulation due to an absence of a clotting factor depending on subtype
716
What deficiency is there in haemophilia A?
Haemophilia A is caused by a deficiency in factor VIII
717
What deficiency is there in haemophilia B?
Haemophilia B (also known as Christmas disease) is caused by a deficiency in factor IX
718
What are the features of haemophilia?
Haemoarthroses Haematomas Prolonged bleeding after surgery or trauma
719
What are the investigations for haemophilia?
FBC - normal platelets Bleeding time, thrombin time, prothrombin time normal Activated partial thromboplastin time (APTT) is prolonged
720
What is the management for haemophilia?
Avoid contact sports and medicines that promote bleeding e.g. aspirin IV clotting factors - may be an immune response (15%) Desmopressin Tranexamic acid
721
What is the most common inherited bleeding disorder?
Von Willebrands disease
722
Define von Willebrands disease?
An inherited bleeding disorder usually due to a reduced quantity or reduced quality of von Willebrand factor
723
What is the inheritance pattern of von Willebrands disease?
Autosomal dominant
724
What is the role of von Willebrand factor?
Promotes platelet adhesion to damaged endothelium Carrier molecule for factor VIII
725
What are the investigations for von Willebrands disease?
Prolonged bleeding time APTT may be prolonged Factor VIII levels may be moderately reduced Defective platelet aggregation with ristocetin
726
What is the management for von Willebrands disease?
Tranexamic acid Desmopressin Factor VIII concentrate
727
What is ITP?
Immune (or idiopathic) thrombocytopenic purpura (ITP) is an immune-mediated reduction in the platelet count. It is an example of a type II hypersensitivity reaction
728
What may cause ITP in children?
ITP in children is typically more acute than in adults and may follow an infection or vaccination
729
What are the features of ITP?
Bruising Petechial or purpuric rash
730
What are the investigations for ITP?
FBC - isolated thrombocytopaenia Blood film
731
What is the management for ITP?
TP resolves in around 80% of children with 6 months, with or without treatment
732
Define sideroblastic anaemia?
Sideroblastic anaemia is a condition where red cells fail to completely form haem
733
What is the congenital cause of sideroblastic anaemia?
Delta-aminolevulinate synthase-2 deficiency
734
What are the investigations for sideroblastic anaemia?
FBC - hypochromic microcytic anaemia Iron studies: ferratin, iron, transferrin saturation are all high
735
What is the most common anaemia?
Iron deficiency anaemia
736
What demographic has the highest incidence of iron deficiency anaemia?
Preschool-age children
737
What are the features of iron deficiency anaemia?
Fatigue SOB on exertion Pallor Palpitations Koilonychia - spoon shaped nails Angular stomtatitis
738
What are the investigations for iron deficiency anaemia?
FBC - hypochromic microcytic anaemia: Low serum Ferratin Low serum Iron Low Transferrin Total iron binding capacity will be high Anti-Transglutaminase Antibody (TTG) antibodies to rule out Coeliac disease
739
What is the management for iron deficiency anaemia?
Treat underlying cause Oral iron supplementation - ferrous sulphate or ferrous fumarate IV iron (ferric carboxymaltose) if cannot give above Blood transfusion in severe cases
740
Define acute lymphoblastic leukaemia?
Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias.
741
What is the peak incidence age of ALL?
The peak incidence is at around 2-5 years of age.
742
What are the classical features of ALL?
Anaemia: lethargy and pallor Neutropaenia: frequent or severe infections Thrombocytopenia: easy bruising, petechiae
743
What are the different types of ALL?
Common ALL (75%), CD10 present, pre-B phenotype T-cell ALL (20%) B-cell ALL (5%)
744
What are some management agents for ALL?
Vincristine Corticosteroids Anthrayclines Methotrexate
745
What is Wilm's tumour?
Wilms’ tumour aka. nephroblastoma is a specific type of tumour affecting the kidney in children, typically under the age of 5 years
746
What are the classic features of Wilm's tumour?
May often present as a mass associated with haematuria Pyrexia may occur in 50% of patients
747
Where does Wilm's tumour often metastasise?
Lungs
748
What is the management for Wilm's tumour?
Nephrectomy
749
Define neuroblastoma?
A malignant tumour arising from the embryological neural crest element of the peripheral sympathetic nervous system
750
What is the most common site of neuroblastoma?
Neural crest tissue in the adrenal glands
751
What are some features of neuroblastoma?
Abdominal mass Pallor, weight loss Bone pain, limp Hepatomegaly
752
What are the investigations for neuroblastoma?
Urinary vanillylmandelic acid (VMA) and homovanillic acid (HVA) levels - both raised Calcification may be seen on abdominal x-ray Biopsy
753
What is retinoblastoma?
Retinoblastoma is the most common ocular malignancy found in children
754
What is the inheritance pattern of a dysfunctional Rb gene?
Autosomal dominant
755
What is the pathophysiology behind retinoblastoma?
Caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
756
What are the possible features of retinoblastoma?
Absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom Strabismus Visual problems
757
What are the management options for retinoblastoma?
Enucleation is NOT the only option Depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
758
What are the benign bone tumours?
Osteoma Oestochondroma (exotosis) Giant cell tumour Osteoblastoma
759
What are the malignant bone tumours?
Osteosarcoma Ewing's sarcoma Chondrosarcoma
760
Define osteoma?
Benign 'overgrowth' of bone, most typically occuring on the skull
761
What is the most common benign bone tumour?
Osteochondroma (exotosis)
762
Define osteochondroma?
Cartilage-capped bony projection on the external surface of a bone
763
What is the most common malignant bone tumour?
Osteosarcoma
764
Define osteosarcoma?
A malignant bone tumour that occurs most frequently in the metaphyseal region of long bones prior to epiphyseal closure, with 40% occuring in the femur, 20% in the tibia, and 10% in the humerus
765
What would an X-ray of osteosarcoma show?
Codman triangle (from periosteal elevation) and 'sunburst' pattern
766
Codman triangle and 'sunburst' pattern on an X-ray would indicate what?
Osteosarcoma
767
Define Ewing's sarcoma?
Small round blue cell tumour
768
Where does Ewing's sarcoma most commonly arise?
Occurs most frequently in the pelvis and long bones
769
What would Ewing's sarcoma show on an X-ray?
Onion skin appearance
770
Onion skin appearance on an X-ray would indicate what?
Ewing's sarcoma
771
Define hepatoblastoma?
Hepatoblastomas are the most common primary malignant liver tumor in pediatric patients
772
What is the management for hepatoblastoma?
Surgical resection - first line Cisplatin chemotherapy Liver transplant
773
What is the most common primary brain tumour in children?
Pilocytic astrocytoma
774
What would pilocytic astrocytoma show on histology?
Rosenthal fibres (corkscrew eosinophilic bundles)
775
Define medulloblastoma?
A medulloblastoma is an aggressive paediatric brain tumour that arises within the infratentorial compartment. It spreads through the CSF system
776
What is the management for medulloblastoma?
Surgical resection and chemotherapy
777
What is the most common paediatric supratentorial tumour?
Craniopharyngioma
778
Define craniopharyngioma?
A solid/cystic tumour of the sellar region that is derived from the remnants of Rathke's pouch
779
What is the management of craniopharyngioma?
Surgical resection of tumour With or without postoperative radiotherapy.
780
Define Kleinfelter syndrome?
Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY.
781
What are the classical features of Kleinfelter syndrome?
Taller height Wider hips Gynaecomastia Small testicles Reduced libido Infertility
782
What are some of the management options for Kleinfelter syndrome?
Testosterone injections Breast reduction surgery
783
Define Turner syndrome?
Turner's syndrome is a chromosomal disorder caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes.
784
What are the classical features of Turner's syndrome?
Short stature Widely spaced nipples Webbed neck Bicuspid aortic valve Coarctation of the aorta Primary amenorrhoea
785
What is the most serious long-term health complication of Turner's syndrome?
Aortic dilatation and dissection
786
What autoimmune conditions have an increased incidence in Turner's syndrome?
Autoimune thyroiditis Crohn's disease
787
What are trisomy 13, 18 and 21 also known as?
Patau syndrome Edward syndrome Down syndrome
788
What parameters are measured in the combined test?
Nuchal translucency measurement Serum B-HCG Pregnancy-associated plasma protein A (PAPP-A)
789
When is the combined test performed in pregnancy?
11-13+6 weeks.
790
What parameters are measured in the quadruple test?
Alpha-feto protein. Serum B-HCG Unconjugated oestriol Inhibin A
791
When is the combined test performed in pregnancy? Why would a combined test not be offered?
If women book later in pregnancy the quadruple test should be offered between 15 - 20 weeks.
792
What would the results be for a combined test be for Down syndrome?
Increased hCG Decreased PAPP-A Thickened nuchal transparency
793
What would the results be for a combined test be for Edward syndrome?
Increased hCG (lower than that of Down syndrome) Decreased PAPP-A Thickened nuchal transparency
794
What would the results be for a combined test be for Patau syndrome?
Increased hCG (lower than that of Down syndrome) Decreased PAPP-A Thickened nuchal transparency
795
What would the results be for a quadruple test be for Down syndrome?
Decreased alpha-feto protein. Decreased unconjugated oestriol Increased Serum B-HCG Increased inhibin A
796
What would the results be for a quadruple test be for Edwards syndrome?
Decreased alpha-feto protein. Decreased unconjugated oestriol Decreased Serum B-HCG Normal inhibin A
797
What would the results be for a quadruple test be for Patau syndrome?
Increased alpha-feto protein. Normal unconjugated oestriol Normal Serum B-HCG Normal inhibin A
798
What would a result of increased hCG , decreased PAPP-A, thickened nuchal transparency indicate for the combined test?
Down syndrome.
799
What would a result of moderately increased hCG , decreased PAPP-A, thickened nuchal transparency indicate for the combined test?
Edward syndrome or Patau syndrome.
800
What would a result of decreased alpha-feto protein, decreased unconjugated oestriol, increased Serum B-HCG, increased inhibin A indicate for the quadruple test?
Down Syndrome
801
What would a result of decreased alpha-feto protein, decreased unconjugated oestriol, decreased Serum B-HCG, increased inhibin A indicate for the quadruple test?
Edwards syndrome.
802
What would a result of increased alpha-feto protein, normal unconjugated oestriol, normal Serum B-HCG, normal inhibin A indicate for the quadruple test?
Neural tube defects
803
What type of genetic disease is fragile X syndrome?
Trinucleotide repeat disorder. CGG repeats
804
What is the pathophysiology behind fragile X syndrome?
CGG repeat expansions can lead to DNA hypermethylation and cause reduced production of the fragile X mental retardation protein (FMRP), critical for normal brain development
805
What is the pattern of inheritance of Duchenne muscular dystrophy?
X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function.
806
What are the classical features of Duchenne muscular dystrophy?
Progressive proximal muscle weakness from 5 years Calf pseudohypertrophy Gower's sign: child uses arms to stand up from a squatted position 30% of patients have intellectual impairment
807
What are the investigations for Duchenne muscular dystrophy?
Raised creatinine kinase Genetic testing is GOLD STANDARD
808
What is Angelman's syndrome?
Angelman Syndrome is a rare genetic disorder caused by the loss of function of the UBE3A gene which affects normal brain development.
809
Why are both Angelman's syndrome and Prader-Willi syndrome considered imprinting disorders?
The paternal copy of the gene is imprinted and usually inactive in the brain so requires a working maternal copy for Asherman's syndrome. Prader-Willi syndrome - chromosome 15q11-q13 region is normally paternally inherited as they are inactivated on the maternal chromosome.
810
What is Noonan syndrome?
Noonan syndrome is an autosomal-dominant inherited disorder which affects the RAS/MAPK pathway
811
What is William syndrome?
William's syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
812
What are the classic features of William syndrome?
Very sociable personality, the starburst eyes and the wide mouth with a big smile.
813
What are the associated conditions with William syndrome?
Supravalvular aortic stenosis and hypercalcaemia
814
Define osteogenesis imperfecta?
More commonly known as brittle bone disease, is a group of disorders of collagen metabolism resulting in bone fragility and fractures Most common is type 1, also less severe
815
What is the inheritance pattern of osteogenesis imperfecta?
Autosomal dominant
816
What is the pathophysiology behind osteogenesis imperfecta
Abnormality in type 1 collagen due to decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides
817
What are the features of osteogenesis imperfecta?
Presents in childhood Fractures following minor trauma Blue sclera Deafness secondary to otosclerosis Dental imperfections are common
818
What would blood show in osteogenesis imperfecta?
Adjusted calcium, phosphate, parathyroid hormone and ALP results are usually normal in osteogenesis imperfecta
819
What is the management for osteogenesis imperfecta?
Bisphosphonates Vitamin D supplementation
820
What is rickets?
Rickets is a term that describes inadequately mineralised bone in developing and growing bones
821
What are the risk factors for rickets?
Dietary deficiency of calcium, for example in developing countries Prolonged breastfeeding Unsupplemented cow's milk formula Lack of sunlight - Vitamin D deficency
822
What are the classical features of rickets in younger children?
Aching bones and joints Bow legs (genu varum) Rickety rosary - swelling at costochondral joint Kyphoscoliosis Craniotabes
823
What are the classical features of rickets in older children?
Aching bones and joints Knock knees (genu valgum) Rickety rosary - swelling at costochondral joint Kyphoscoliosis Harrison's sulcus
824
What are the investigations for rickets?
Low vitamin D levels Reduced serum calcium - symptoms may results from hypocalcaemia Raised alkaline phosphatase
825
What is the management for rickets?
Oral vitamin D
826
Define transient synovitis?
Transient synovitis is sometimes referred to as irritable hip. It generally presents as acute hip pain following a recent viral infection
827
What is the most common cause of hip pain in children?
Transient synovitis
828
What is the typical age group for transient synovitis?
3-8 years old
829
What are the features of transient synovitis?
Limp / refusal to weight bear Groin or hip pain Low grade fever (high fever -> septic arthritis)
830
What is the management for transient synovitis?
Symptomatic relief - NSIADs and paracetamol
831
What are the most common joints affected in septic arthritis?
Hip, knee and ankle
832
What are the features of septic arthritis?
Joint pain (swollen and erythematous) Limp (decreased ROM) High grade fever Systemically unwell
833
What are the investigations for septic arthritis?
Joint aspiration - Raised WCC Raised CRP and ESR Blood cultures
834
What criteria is used to diagnose septic arthritis?
Kocher criteria: Fever >38.5 degrees C Non-weight bearing Raised ESR Raised WCC
835
What is the Kocher criteria used for?
Diagnosis of septic arthritis
836
What is the empirical management for septic arthritis?
Flucloxacillin first line If allergy then clindamycin
837
What is the management for MRSA septic arthritis?
Vancomycin
838
What is the management for gongococcal septic arthritis?
Cefotaxime or ceftriaxone
839
Define osteomyolitis?
Osteomyelitis describes an infection of the bone
840
What is haematogenous osteomyelitis?
From bacteraemia Monomicrobia Most common in children
841
What is non-haematogenous osteomyelitis?
Contiguous spread of infection from adjacent soft tissues to the bone or from trauma Polymicrobial Most common in adults
842
What is the most common causative pathogen of osteomyelitis?
Staphylococcus aureus
843
What is the most common causative pathogen of osteomyelitis in sickle cell patients?
Salmonella species
844
What is the investigation of choice in osteomyelitis?
MRI
845
What is the management for osteomyelitis?
Flucloxacillin for 6 weeks Clindamycin if allergy
846
Define Legg-Calve-Perthes disease?
A self-limiting disease of the femoral head comprising necrosis, collapse, repair, and re-modelling
847
What is the phenotype of Legg-Calves-Perthes disease?
Short stature Delayed bone age Hyperactivity
848
What is the investigation for Legg-Calves-Perthes disease?
Bilateral hip X-Ray
849
Define discoid meniscus?
A discoid meniscus is an anatomical variant of the normal crescent-shaped meniscus. It is often thicker and is disc- or saucer-shaped
850
What are the investigations for discoid meniscus and what would they show?
X-Ray: Widened joint space Squaring of the lateral femoral epicondyle Cupping of the tibial plateau Hypoplastic lateral tibial spine MRI: Bow-tie sign
851
What is the management for discoid meniscus?
Asymptomatic does not require surgery Surgery
852
In what demographic is slipped capital femoral epiphysis classically seen?
Seen in children, classically seen in obese boys
853
Define slipped capital femoral epiphysis?
Displacement of the femoral head epiphysis postero-inferiorly
854
What are the features of slipped capital femoral epiphysis?
Hip, groin, medial thigh or knee pain Loss of internal rotation of the leg in flexion Bilateral slip in 20% of cases
855
What is the investigation of choice for slipped capital femoral epiphysis and what would be a positive sign?
X-Ray - Ap and lateral view would show frog-leg
856
What is the management for slipped capital femoral epiphysis?
Internal fixation: typically a single cannulated screw placed in the centre of the epiphysis
857
What are the complications of slipped capital femoral epiphysis?
Osteoarthritis Avascular necrosis of the femoral head Chondrolysis Leg length discrepancy
858
Define osgood-shlatter disease?
Osgood-Schlatter disease (tibial apophysitis) is a type of osteochondrosis characterised by inflammation at the tibial tuberosity More commonly affects boys
859
What is the investigation of choice for osgood-shlatter disease?
X-Ray
860
What is the management for osgood-shlatter disease?
Supportive - NSAIDs and Physiotherapy
861
What are the risk factors for developmental dysplasia of the hip?
Female sex: 6 times greater risk Breech presentation Positive family history Firstborn children Oligohydramnios Birth weight > 5 kg
862
Is left or right developmental dysplasia of the hip more common?
Slightly more common in left 20% of time it is bilateral
863
What infants require screening for developmental dysplasia of the hip?
First-degree family history of hip problems in early life Breech presentation at or after 36 weeks gestation Multiple pregnancy
864
Outline a clinical examination for developmental dysplasia of the hip?
Barlow test: attempts to dislocate an articulated femoral head Ortolani test: attempts to relocate a dislocated femoral head Symmetry of leg length Level of knees when hips and knees are bilaterally flexed Restricted abduction of the hip in flexion
865
What is the investigation of choice for developmental dysplasia of the hip?
Ultrasound to confirm diagnosis X-Ray is above 4.5 months old
866
What is the management for developmental dysplasia of the hip?
Most will spontaneously stabilise by 3-6 weeks of age Pavlik harness in children <4-5 months Older children may require surgery
867
Define juvenile idiopathic arthritis?
Juvenile idiopathic arthritis (JIA) describes a group of chronic paediatric inflammatory arthritides characterised by onset before 16 years of age and the presence of objective arthritis (in one or more joints) for at least 6 weeks
868
What are the five types of juvenile idiopathic arthritis?
Systemic JIA Polyarticular JIA Oligoarticular JIA Enthesitis related arthritis Juvenile psoriatic arthritis
869
What will investigations show for systemic JIA?
Antinuclear antibodies - negative Rheumatoid factors - negative CRP - raised ESR - raised Platelets - raised Serum ferritin - raised
870
What is the key complication of systemic JIA?
Macrophage activation syndrome (MAS)
871
What are the features of classical systemic JIA?
Salmon-pink rash Fevers Joint pain
872
Define polyarticular JIA?
Polyarticular JIA involves idiopathic inflammatory arthritis in 5 joints or more
873
What are the features of polyarticular JIA?
The inflammatory arthritis tends to be symmetrical and can affect the small joints of the hands and feet, as well as the large joints such as the hips and knees
874
What will investigations show for polyarticular JIA?
Most children are negative for rheumatoid factor and are described as “seronegative' Seropositive patients tend to be older children and adolescents
875
Define oligoarticular JIA?
Also known as pauciarticular JIA Usually it only affects a single joint, which is described as a monoarthritis It occurs more frequently in girls under the age of 6 years
876
What are the features of oligoarticular JIA?
It tends to affect the larger joints, often the knee or ankle Classically associated with anterior uveitis - ophthalmology referral
877
What will investigations show for oligoarticular JIA?
Rheumatoid factor - negative Antinuclear antibodies - positive
878
What is the management for JIA?
NSAIDs Steroids in oligoarthritis DMARDS Biological therapy - TNF-alpha inhibitors
879
What DMARDs can be used in JIA?
Methotrexate Sulfasalazine Lefulonmide
880
What TNF-alpha inhibitors can be used in JIA?
Etanercept Infliximab Adalimumab
881
What is adolescent idiopathic scoliosis (AIS)?
A structural spinal deformity characterised by decompensation of the normal vertebral alignment during rapid skeletal growth in otherwise healthy children
882
What is congenital torticollis?
Congenital muscular torticollis (CMT) is a neck deformity that involves shortening of the sternocleidomastoid (SCM) muscle resulting in limited neck rotation and lateral flexion.
883
What vaccines are given at 2 months old?
Dont talk to weird people I hate '6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B) Men B
884
What vaccines are given at 3 months old?
Dont talk to weird people I hate '6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B) PCV
885
What vaccines are given at 4 months old?
Dont talk to weird people I hate '6-1 vaccine' (diphtheria, tetanus, whooping cough, polio, Hib and hepatitis B) Men B
886
What vaccines are given at 12-13 months old?
Hib/Men C MMR PCV Men B
887
What vaccines are given at 3-4 years old?
Dont talk to weird people '4-in-1 pre-school booster' (diphtheria, tetanus, whooping cough and polio) MMR
888
What vaccines are given at 12-13 years?
HPV vaccination to boys and girls
889
What vaccines are given at 13-18 years old?
Don't talk to people '3-in-1 teenage booster' (tetanus, diphtheria and polio) Men ACWY
890
What is an APGAR score? When is it used?
The Apgar score is used to assess the health of a newborn baby. Assessed at 1 and 5 minutes
891
What does a APGAR score of 0-3 mean, 4-6 mean, and 7-10 mean?
0-3 is very low 4-6 is moderately low 7-10 good score
892
What score is given for pulse in the APGAR scoring?
2 = >100 1 = <100 0 = No pulse
893
What score is given for respiratory effort in the APGAR score?
2 = Strong, crying 1 = Weak, irregular 0 = Nil
894
What score is given for colour in the APGAR score?
2 = Pink 1 = Body pink, extremities blue 0 = Blue all over
895
What score is given for muscle tone in the APGAR score?
2 = Active movement 1 = Limb flexion 0 = Flaccid
896
What score is given for reflex irritability in the APGAR score?
2 = Cries on stimulation. Sneezing / coughing 1 = Grimace 0 = Nil
897
What causes respiratory distress syndrome?
Insufficient surfactant production and structural immaturity in neonates
898
What are the risk factors for respiratory distress syndrome?
Male sex Diabetic mothers Caesarian section Second born or premature twins
899
What is the management for respiratory distress syndrome?
Antenatal steroids (i.e. dexamethasone) Oxygen - assisted ventilation Exogenous surfactant via endotracheal tube
900
Define meconium aspiration syndrome?
Respiratory distress in the newborn as a result of meconium in the trachea
901
What are. the risk factors for meconium aspiration syndrome?
Maternal hypertension Pre-eclampsia Chorioamnionitis Smoking Substance abuse
902
Define TORCH infection?
Toxoplasmosis - Toxoplasma gondii Others (Syphilis, Hepatitis B) - Treponema pallidum, Hepatitis B virus Rubella - Rubella virus Cytomegalovirus (CMV) - Cytomegalovirus Herpes simplex - Herpes virus simplex (HSV)
903
What are the causes of neonatal jaundice in the first 24 hours?
Rhesus haemolytic disease ABO haemolytic disease Hereditary spherocytosis Glucose-6-phosphodehydrogenase
904
Why may there be physiological jaundice in neonates 2-14 days old?
More red blood cells, more fragile red blood cells and less developed liver function.
905
What is the investigation for neonatal jaundice?
Conjugated and unconjugated bilirubin Unconjugated is raised in biliary atresia
906
What is the management for neonatal jaundice?
Phototherapy - converts unconjugated bilirubin to more excretable products Exchange transfusion
907
Define kernicterus?
A term used to describe the clinical features of acute or chronic bilirubin encephalopathy and the pathological findings of deep yellow staining in the brain
908
Define necrotising enterocolitis?
a disorder affecting premature neonates, where part of the bowel becomes necrotic.  It is a life threatening emergency. Death of the bowel tissue can lead to bowel perforation. Bowel perforation leads to peritonitis and shock.
909
Define gastroschisis?
Gastroschisis describes a congenital defect in the anterior abdominal wall just lateral to the umbilical cord
910
What will an abdominal X-ray show for necrotising enterocolitis?
Dilated bowel loops (often asymmetrical in distribution) Bowel wall oedema Pneumatosis intestinalis (intramural gas) Portal venous gas Pneumoperitoneum resulting from perforation Air both inside and outside of the bowel wall (Rigler sign) Air outlining the falciform ligament (football sign)
911
What is the investigation of choice for necrotising enterocolitis?
Abdominal X-ray
912
What is the management for gastroschisis?
Vaginal delivery may be attempted Newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours
913
Define exomphalos / omphalocoele?
In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum.
914
What is the management for exomphalos / omphalocoele?
Caesarean section - reduces risk of sac rupture A staged repair - due to lack of space and increased intra-abdominal pressure
915
Define oesophageal atresia and tracheo-oesophageal fistula
Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are congenital malformations that result from the defective separation of the common embryologic precursors to both the oesophagus and trachea
916
What is neonatal hypoglycaemia?
Normal term babies often have hypoglycaemia especially in the first 24 hrs of life but without any sequelae. < 2.6 mmol/L is used in many guidelines
917
What is a key risk factor for neonatal hypoglycaemia?
Pre-term (>37 weeks)
918
What is the management for neonatal hypoglycaemia?
Asymptomatic: Encourage normal feeding (breast or bottle) Monitor blood glucose Symptomatic: Admit to neonatal unit IV infusion of 10% dextrose
919
What type of organism is listeria?
A food-borne infection caused by a motile, non-spore-forming, gram-positive bacillus
920
What is the management for listeria infection?
Ampicillin with Gentamicin
921
What is the management for listeria infection in pregnant individuals?
Trimethoprim/sulfamethoxazole Should be avoided during the first trimester of pregnancy due to the effect on folic acid metabolism
922
What is the most common deformity affecting orofacial structures?
Cleft lip and palate
923
What are the most common variants of cleft lip and palate?
Isolated cleft lip (15%) Isolated cleft palate (40%) Combined cleft lip and palate (45%)
924
What drugs may increase the risk of cleft lip and palate?
Anti-epileptic use