Things I got Wrong (Paeds Edition) Flashcards
(182 cards)
1
Q
What are the two types of ASD?
A
- Secundum - 90% - holes in the middle of the septum - where theseptum secondum
fails to fully close, leaving a hole in the wall - Primum - holes by the tricuspid valve - where theseptum primum fails to fully close, leaving a hole in the wall
2
Q
What murmur would be heard in an atrial septal defect?
A
Ejection systolic, fixed split second heart sound (because the pulmonary artery takes longer to close). Heard at the left medial second intercostal space due to pulmonary valve involvement?
3
Q
What are the risk factors for ASD/ VSD?
A
Maternal alcohol use
Maternal smoking
Congenital rubella
Maternal diabetes
Down syndrome
Family history
4
Q
How might an ASD/VSD be investigated?
A
- ECG - RBBB due to right sided dilation
- Echo - hypertrophy and dilation of right side of heart and pulmonary vessels
- CXR - hypertrophy and dilation of right side of heart and pulmonary vessels
5
Q
How might ASD/VSD be treated?
A
percutaneous transvenous catheter closure(via the femoral vein) oropen-heart surgery if the right heart is dilated
if the baby isn’t having any severe symptoms, of any signs of HF, or persistent FTT, monitoring is more appropriate
6
Q
What type of murmur does a VSD cause?
A
Pansystolic murmur
Left medial 4th intercostal space
7
Q
What type of murmur does PDA cause?
A
Continuous machinery-like murmur
Collapsing pulse
Wide pulse pressure
8
Q
What is the pathophysiology of PDA?
A
- If it remains open then there is an abnormal left-to-right shunt (from aorta to pulmonary artery) and eventually means that the lung circulation is overloaded with pulmonary hypertension (leading to Eisenmenger syndrome) and an increased afterload. This leads to right ventricular hypertrophy, and right side cardiac failure
- The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to overload andleft ventricular dilation.
9
Q
What are the risk factors for PDA?
A
- Congenital rubella
- Prematurity
10
Q
When does the ductus arteriosus normally close?
A
1-2 days due to the increase in resistance when transitioning to breathing air
11
Q
How is PDA managed?
A
- Ibuprofen or indomethacin to inhibit prostaglandins
- Surgery may be required - ligation or percutaneous closure
12
Q
What is the pathophysiology of coarctation of the aorta, proximal to the coarctation?
A
- Proximal to the coarctation
- Restricted flow causes excessive blood flow diversion into the carotid and subclavian vessels, so the upper body is well perfused on the right hand side
- Also increases blood pressure in areas proximal to the narrowing, like the heart and the branches of the aortic arch
13
Q
What is the pathophysiology of coarctation of the aorta, distal to the coarctation?
A
- Distal to the coarctation
- Restricted systemic flow results in restricted blood supply to the distal organs, like the kidneys, and causes renal hypotension.
- The body switches on RAAS to account for this low renal blood pressure ⇒ high blood pressure in the head, neck, heart, R arm (because these already have normal pressure)
14
Q
What are the risk factors for coarctation of the aorta?
A
- Turner syndrome
- PDA
15
Q
What signs might indicate coarctation of the aorta?
A
- Differing blood pressures on different arms (low on left, high on right)
- Reduced/absent femoral pulses
- Underdeveloped left arm and legs, large right arm
- Ejection systolic murmur
- Radiofemoral delay
16
Q
How is coarctation of the aorta investigated?
A
- CT angiogram
- CXR - shows dilated aorta prior to narrowing
17
Q
How might a coarcted aorta be managed?
A
- End to end repair - removal of the narrowed bit and stitching the normal parts together - uncommon
- Coarctation angioplasty - inserting a catheter and widening the narrow part with a balloon and a stent (like a normal angioplasty - tends to be done in adults)
- Subclavian flap
18
Q
What is the pathophysiology of a bicuspid aortic valve?
A
Flow is not efficient ⇒ turbulence ⇒ stress on the valve ⇒ stenosis, regurgitation and failure ⇒ 66% chance of aortic valve surgery in adulthood or even childhood
19
Q
What murmur is associated with a bicuspid aortic valve?
A
Ejection systolic
Palpable thrill
20
Q
How might a bicuspid aortic valve present?
A
- Fatigue
- SOBOE
- Fainting / dizziness
21
Q
How can a bicuspid aortic valve be treated?
A
- Balloon valvuloplasty / angioplasty - opening the stenotic valve by feeding a catheter into the heart and inflating a balloon to open the narrowed valve (doesn’t treat regurgitation)
- Open/surgical valvotomy - open heart surgery which involves making a direct incision of the fused leaflets of the valve during open-heart surgery
- AVR - open heart surgery to replace the valve
- TAVI - inserting a catheter into a blood vessel and passing it towards the aortic valve. The catheter is then used to guide and fix a replacement valve over the top of the old one
22
Q
What is a reliable sign of congestive HF in paediatric patients?
A
Hepatomegaly
23
Q
What is the pathophysiology of TGA?
A
- Normal heart development involves the spiralling of the aortopulmonary septum.
- In TGA, this spiralling fails to occur, leading to the aorta arising from the right ventricle and supplying the systemic circulation, while the pulmonary artery arises from the left ventricle and supplies the pulmonary circulation.
- This aberration results in two parallel and separate circulations, which is not compatible with life without shunting via the ductus arteriosus or any existing septal defects.
24
Q
What are the signs and symptoms of TGA?
A
- Cyanosis, SOB shortly after birth
- Poor feeding
- Lethargic
- Tachycardia
- Dyspnoea
25
What murmur is present in TGA?
* None! Loud single S2 is present
26
How is TGA diagnosed?
* Usually made antenatally using abdominal US and echo
Postnatally:
* CXR - egg on a string appearance
* Foetal US and echocardiography
27
How is TGA managed?
* prostaglandins like alprostadil to maintain the PDA
* Surgery to reposition the arteries - arterial switch within a few days of birth
28
What is the pathophysiology of a tet spell?
Increase in cardiac output which increases pulmonary vascular resistance and pressure in the RV, causing blood to travel in the direction of least resistance - from the RV, through the defect, into the LV and out the aorta, bypassing the lungs
29
What are the risk factors for TOF?
* Male
* Maternal alcohol consumption
* Maternal smoking
* Maternal rubella infection
* Mother 40+
* Maternal diabetes
30
How is TOF diagnosed?
* Antenatal US
* Echocardiogram
* CXR - boot shaped heart
31
How is TOF managed?
* Oxygen
* Alprostadil to maintain the PDA
* Sythetic black thomas taussig shunt - connecting a branch of the subclavian artery
or carotid artery to the pulmonary artery to direct blood to the lungs and reduce cyanosis whilst they're waiting for complete repair
* Complete repair - close the hole, resect the hypertrophied ventricle and open the stenosed valve with a balloon angioplasty
32
What is a complication of TOF repair?
* Pulmonary valve regurgitation due to the balloon angioplasty
* Arrythmias due to R ventricle hypertrophy and scarring
33
What screening tool is used to aid in the diagnosis of anorexia nervosa?
SCOFF
34
What are the criteria for an atypical UTI that requires an US during the illness?
Seriously ill (for more information, refer to the NICE guideline on fever in under 5s: assessment and initial management)
Poor urine flow
Abdominal or bladder mass
Raised creatinine
Septicaemia
Failure to respond to treatment with suitable antibiotics within 48 hours
Infection with non-E. coli organisms
35
How can you differentiate between IgA nephropathy and post-strep glomerulonephropathy clinically?
There is typically an interval between URTI and symptoms in post-strep glomerulonephritis, but in IgA nephropathy it is almost immediate
36
After a course of steroids, what is the likelihood that a child will be cured of their minimal change disease (never relapse)?
20%
37
What is the most common cause of endocarditis in children?
S. viridans
38
What medication can be used to slow tachycardia or terminate arrhythmias?
Amiodarone
39
What is the most common pathological arrythmia in children?
SVT
40
What is the most common cause of septic arthritis in children?
S. aureus
41
What needs monitoring in HSP?
BP and urinalysis to monitor for renal involvement
42
What is the mode of inheritance for osteogenesis imperfecta?
Autosomal dominant
43
What symptoms should make you consider pneumonia over bronchiolitis?
Very high fever
44
In a child who has already had a febrile seizure, what increases risk of further seizures?
Risk of a further febrile seizure is higher the younger the child, the shorter the duration of illness before the seizure, the lower the temperature at the time of seizure
45
In a simple febrile seizure, how long should the post ictal phase be?
<1 hour
46
In febrile seizures, what is the criteria for rescue therapy with midazolam?
History of prolonged seizures >5m
47
What is the hospital admission criteria for a febrile seizure?
First fit, complex febrile seizure
48
What are the criteria for a paediatric migraine?
A - 5 attacks
B - 4-72 hours
C - unilateral, throbbing, aggravated by movement, severe intensity
D - at least one of N/V, photophobia, phonophobia is present
49
What are the criteria for a paediatric tension headache?
A - 10 episodes
B - 30m-7days
C - tight/pressing pain, mild intensity, bilateral, not aggravated by physical activity
D - no N/V
50
How are paediatric tension headaches managed?
- Water
- Paracetamol (calpol)
- Regular meals
- Reducing stress
51
How are acute paediatric migraine managed?
* ibuprofen
* nasal sumitriptan can be used >12
52
What prophylaxis can be used for a paediatric migraine?
* Propanolol, topiramate, amitriptyline
53
What are the pre-natal causes of CP?
* Maternal infection
* Placental insufficiency
54
What are the perinatal causes of CP?
* HIE
* Hypoxia - cord prolapse, cord around the neck
* Prematurity
55
What are the post natal causes of CP?
* Meningitis
* IVH
* Kernicterus
56
What are the 3 types of cerebral palsy?
* Spastic (upper motor neurones of the periventricular white matter)
* Dyskinetic (basal ganglia and SN)
* Ataxic (cerebellum)
57
How is CP diagnosed?
Brain MRI
58
Does muscular dystrophy cause restrictive or obstructive lung disease?
Restrictive
59
What causes reflex anoxic seizures?
A reflex anoxic seizure is caused by overactivity of the vagus nerve, causing vasodilation and reduction in CO, and a collapse from a temporary reduction in cerebral perfusion. Vagal activity can be triggered by fear or pain.
60
How is croup investigated?
Swab and PCR
61
What might cause pneumonia in newborns, infants and children >5?
- Newborns - group B strep
- Infants and young children - RSV, streptococcus pneumoniae, H. influenzae, S. aureus
- Children over 5 -Mycoplasma pneumonia, Streptococcus pneumoniae, Chlamydia pneumoniae
62
How is pneumonia treated in newborns?
* broad spec IV antibiotics
63
How is pneumonia treated in older infants and children <5?
* PO amoxicillin, co-amoxiclav if complicated
64
How is pneumonia treated in children >5?
* PO amoxicillin or clarithromycin
65
How should mycoplasma pneumonia be treated?
* erythromycin (Mycoplasma requires a Macrolide)
66
How should children with H. influenzae pneumonia be treated?
* Co-amoxiclav
67
What is the pathophysiology of asthma?
Acute allergic asthma is a type I (immediate type) hypersensitivity and its mechanism is shared with anaphylaxis and allergy: First contact with allergens trigger formation of IgE antibodies, which fix to mast cells. Subsequent contact with allergens triggers the mast cells to degranulate, releasing mediators and vasoactive substances within minutes.
Histamine leads to airway oedema, excessive mucus production and reversible airway narrowing / bronchoconstriction => wheeze and cough
68
What does bronchodilator reversibility mean?
* FEV1 improves by >12% after use of a bronchodilator
69
What is the pathophysiology of a virally induced wheeze?
- Small children under 3 have small airways that become significantly narrowed by virally-induced inflammation and oedema ⇒ restricted airflow
- Inflammation also triggers the smooth muscles of airways to constrict, further narrowing the airway
- The air flowing through these narrowed airways leads to restricted ventilation and respiratory distress
70
What symptoms might be present in a virally induced wheeze, and how are they different to asthma?
- SOB, cough, signs of respiratory distress and **expiratory wheeze**
- Coryzal symptoms like cough or fever for 1-2 days - good way of differentiating asthma, as asthma doesn’t have infectious symptoms
71
What gene is mutated in CF and what does it encode?
cystic fibrosis transmembrane conductance regulatory gene
Chloride ion channel protein
72
What are some non-respiratory complications of cystic fibrosis?
- Dysregulated inflammatory response, leading to increased infections
- Malabsorption - thick secretions ⇒ impaired lipase in the GIT
- Diabetes - thick pancreatic secretions that block ducts ⇒ diabetes
- Pancreatic exocrine enzyme deficiency - lipase, amylase, proteases ⇒ malabsorption ⇒ faltering growth, steatorrhoea,
- Infertility due to lack of a vas deferens in males
73
What stool test can be done for cystic fibrosis?
Fecal elastase - it's normally secreted by the pancreas and found in faeces, but due to obstruction of pancreatic ducts it may be decreased in CF
74
What monitoring is needed in cystic fibrosis?
* 6 monthly monitoring of sputum for pseudomonas aeruginosa, lung spirometry and lung function testing
* Monitoring for diabetes and pancreatic insufficiency
75
How is pseudomonas aeruginosa treated in CF patients?
Ciprofloxacin, tobramycin
76
Where are Meckel's diverticula commonly found?
Ileum, two feet proximal to the ileocecal valve
77
What are the surgical criteria for removal of Meckel's diverticulum?
- Longer than 2cm
- Restricted by narrow neck
- Ectopic gastric tissue
- Inflammation
78
What does toddler's diarrhoea look like?
- Chronic loose stools of varying cosistency - sometimes well formed, sometimes explosive and loose, often with undigested veggies in the stool
- Otherwise, the children are well and thriving - no faltering growth
79
How is toddler's diarrhoea managed?
Adding mroe fat, more fibre and less juice to their diet
80
What are the 3 types of duodenal atresia?
1 - web of mucosa and submucosa obscures the duodenal lumen, but there are no defects in the mucosa itself
2 - the proximal and distal ends of the duodenum are atretic but connected by a cord 3 - the proximal and distal ends are atretic with no connection
81
What are the symptoms of duodenal atresia?
- Basically bowel obstruction!
- Persistent vomiting - bile stained unless the atresia begins above the ampulla of Vater
- Absence of passage of faeces (although meconium may still be passed), any faeces that are passed are not of normal consistency
- Abdominal distenstion - higher up lesions will present almost immediately but lower lesions may take a few days to develop
- Abdominal pain
- Abnormal bowel sounds - might be high pitched or tinking in early obstruction, or absent later
82
How is duodenal atresia managed?
- Duodeno-duodenostomy
- NMB
- NGT to drain the stomach
- TPN for nutrition
- Normal milk feeds can start 2 weeks after the operation; a transanastomotic tube will also be placed down the nose, passing the duodenum and into the healthy bowel to allow for milk feeds to start immediately
83
What is normal GOR in children?
* Vomiting / refluxing up milk before 8 weeks
84
What is problematic GORD in children?
- Onset after 6 months or persisting beyond 1
- Chronic cough
- Hoarse cry
- Distress, crying or unsettled after feeding
- Arching back after feeding
- Drawing knees to the chest after feeding
- Reluctance to feed
- Pneumonia
- Poor weight gain
85
How is normal reflux managed?
* Feeding the baby upright, small frequent meals, not overfeeding
86
How is GORD managed?
- Breast fed: breast feeding advice ⇒ alginate therapy, such as Gaviscon Infant mixed with feeds for 1-2 weeks
- Formula fed: reduce feeds (only if being overfed) ⇒ smaller, more frequent feeds ⇒ thickened anti-reflux milk/formula ⇒ alginate therapy, such as Gaviscon Infant mixed with feeds for 1-2 weeks
- If alginate therapy fails in either group ⇒ PPI for 4 weeks or H2 receptor antagonists
- Surgical - laparoscopic fundiplication
87
What is second line to steroids in minimal change disease?
* Ciclosporin
88
When are hypospadias repaired?
6m-2y
89
What are some complications of hypospadias?
* Chordee
* Issues with micturition
* Issues with secual function
* Embarassment/psychological effects
90
How is phimosis treated in children >12?
* Course of steroids 6 weeks
* Circumcision of this fails
91
When should phimosis resolve?
Most naturally resolve by 5, so until they they just need observation
92
What is the pathophysiology of an undescended testicle?
- The testes develop in the abdomen and then gradually migrate down, through the ***inguinal canal*** and into the ***scrotum***. They have normally reached the ***scrotum*** prior to birth.
- In about 5% of boys the testes have not made it out of the abdomen by birth. At this point they are called ***undescended testes (crypotorchidism)***
93
What type of hypersensitivity reaction is ITP?
Type 2 hypersensitivity
94
In terms of neonatal hypoglycaemia, what counts as a very low blood glucose?
Capillary blood glucose of <1mmol/L is a very low glucose level
95
What are the signs and symptoms of Down syndrome?
- Hypotonia (reduced muscle tone)
- Brachycephaly (small head with a flat back)
- Short neck
- Short stature
- Brushfield spots in the eyes
- Flattened face and nose
- Prominent epicanthic folds (folds of skin covering the medial portion of the eye and eyelid)
- Upward sloping palpebral fissures (gaps between the lower and upper eyelid)
- Single palmar crease
- Learning disability
96
What does NIPT test for in Down Syndrome diagnosis?
Maternal blood test - tests for fetal DNA fragments in the maternal DNA
97
What is chorionic villous sampling?
Ultrasound guided biopsy of placental tissue - done before 15 weeks
98
What is amniocentesis?
Ultrasound guided aspiration of some amniotic fluid using a needle and syringe. Done later in pregnancy when there is enough amnioic fluid
99
Which members of the MDT are involved in DS management?
- Occupational therapy
- Speech and language therapy
- Physiotherapy
- Dietician
- Paediatrician
- GP
- Health visitors
- Cardiologist for congenital heart disease
- ENT specialist for ear problems
- Audiologist for hearing aids
- Optician for glasses
- Social services for social care and benefits
- Additional support with educational needs
- Charities such as the ***Down’s Syndrome Association***
100
What monitoring do children with DS require?
- Regular thyroid checks (2 yearly)
- Echocardiogram to diagnose cardiac defects
- Regular audiometry for hearing impairment
- Regular eye checks
101
What complications are people with Down syndrome at risk of?
- ALL
- AVSD
- Alzheimer's (early onset)
- Hypothyroidism
- Atlantoaxial subluxation
- Duodenal aresia
102
What are the types of Edward syndrome?
* Full trisomy - an entire extra chromosome 18 in all cells, most babies die before birth
* Mosaic - an extra chromosome in only some cells, milder effects, most babies live to a year, some live to adulthood
* Partial - only part of chromosome 18 is present in cells, much rarer, phenotype depends on which part is present
103
What are the signs and symptoms of Edward syndrome?
* Small head and jaw (microcephaly and micrognathia)
* Low set ears
* Overlapping fingers and toes
* Rocker bottom feet
* Learning difficulties
* Issues with feeding, sight, hearing, breathing
* Omphalocele
HEAD-ward syndrome - small head and jaw
104
How are suspected trisomies investigated post-natally?
Karyotyping
105
How are Edward and Patau syndrome diagnosed antenatally?
* Combined test
* CVS, amniocentesis, NIPT
106
How is Down syndrome diagnosed antenatally?
* Combined test
* Quadruple test
* CVS, amniocentesis, NIPT
107
How are Edward and Patau syndrome managed?
* Many people chose to terminate the pregnancy as prognosis is so poor
* MDT input - OT/PT, NGT placement
* Pain relief and comfort
* Hospice and palliative care
* CS and staged repair of omphalocele
108
What are the types of Patau syndrome?
* Full trisomy - an entire extra chromosome 13 in all cells, most babies die before birth
* Mosaic - an extra chromosome in only some cells, milder effects, most babies live to a year, some live to adulthood
* Partial - only part of chromosome 13 is present in cells, much rarer, phenotype depends on which part is present
* Chromosomal translocation
109
What is the main risk factor for trisomy syndromes?
Increasing maternal age
110
What are the signs and symptoms of Patau syndrome?
- Dysmorphia
- Cleft palate and lip
- Abnormally small eyes, absence of one or both (microphthalmia)
- Smaller than average head (microcephaly)
- Ear malformations and deafness
- Structural abnormalities affecting almost all areas of their body
- Abdominal wall defect -exomphalos/omphalocoele
- Abnormal cysts in the kidneys
- Severe heart defects
- Polydactyly
- Rocker bottom feet (less common than Edwards)
111
What are some complications of Edward syndrome?
* Structural heart defects such as ASD/VSD
* Feeding difficulties that require NGT
* Omphalocele
112
What is the most common mechanism behind trisomy 21?
Chromosome non-disjunction
113
Which service provides support for children with DS?
The Child Development Service will provide and/or coordinate care for child to help fulfill their family's needs. This will involve regular review of the child's health and development.
114
What causes fragile X syndrome?
Triple repeat expansion of CGG in the FMR1 gene (fragile X mental retardation 1) on the X chromosome (X linked inheritance) - The fragile X mental retardation protein plays a role in cognitive development of the brain
115
Are males or females affected more by the fragile X mutation?
Males - they are always affected
Female - they are variably affected as they have another gene to replace the defective one
116
What are the learning signs and symptoms of fragile X syndrome?
- Learning disability
- moderate to severe intellectual disability in boys;
- mild to moderate intellectual disability in heterozygous females (about 50% of cases – the others will be intellectually normal)
117
What are the social signs and symptoms of fragile X syndrome?
- Social communication issues
- Delay in speech and language development
- Intellectual disability
- Attention deficit hyperactivity disorder (ADHD)
- Autism
118
What are the facial signs and symptoms of fragile X syndrome?
- Facial appearance
- Long, narrow face with frontal bossing and prominent chin
- Macrocephaly (or normal head)
- Large ears
119
What are the physical signs and symptoms of fragile X syndrome (not the face)?
- Body appearance
- Large testicles after puberty
- Hypermobile joints (particularly in the hands) caused by connective tissue dysplasia
120
120
What neurological symptoms are seen in fragile X syndrome?
Seizures
121
How is fragile X managed?
Behavioural therapy to help manage social anxiety and autistic spectrum features.
Speech and language therapy for communication difficulties.
Educational support to address learning disabilities.
Medical management as required for any physical complications, including macroorchidism and seizures, in addition to mental health conditions (ie anxiety)
122
How is fragile X diagnosed?
* Genetic testing
123
What causes TTN?
Delayed absorption of fluid due to the lack of surge of maternal catecholamines, and lack of baby being squeezed by the vaginal canal
124
How is TTN managed?
Oxygen
Inflation breaths using the PEEP machine
CPAP if it doesn't get better
Mechanical ventilation if it doesn't get better
NGT if they are too breathless to feed
125
How is RDS managed?
* Oxygen
* CPAP
* Mechanical ventilation if none of that works
* Endotracheal surfactant
126
What are some complications of RDS?
- Bronchopulmonary dysplasia
- Retinopathy of prematurity occurs more often and more severely in neonates with RDS
- NEC
- Infections
127
What is the pathophysiology of bronchopulmonary dysplasia in newborns?
- Premature babies suffer with RDS and require oxygen therapy, intubation or ventilation at birth.
- This injures the lungs, causing scarring
- Impaired parenchymal development and dysregulated vascular growth predominantly affecting infants born before 29 weeks’ gestational age, leading to lung immaturity
128
What are the signs and symptoms of bronchopulmonary dysplasia?
- **Oxygen requirements beyond 36 weeks gestational age - must have!**
- Low oxygen saturations
- Increased work of breathing
- Poor feeding and weight gain
- Crackles and wheezes on chest auscultation
- Increased susceptibility to infection
129
What are the causes of bronchopulmonary dysplasia?
* Respiratory infections as a neonate
* RDS - ventilation and high flow oxygen
130
How is bronchopulmonary dysplasia investigated?
CXR - widespread areas of opacification, with cystic changes
131
How is bronchopulmonary dysplasia managed?
- On the neonatal ward, babies are given CPAP / high flow NC and then weaned down to NC, sometimes over several months
- Babies may be discharged with low dose oxygen via NC (maybe 0.01L/minute via NC) that is weaned over the first year of life
- Monthly injections of palivizumab
132
How is mild meconium aspiration managed?
- Oxygen therapy - monitoring and NC
- Supportive care - placed in a warmer, IV fluids (10% dextrsoe in water), NG feeds, feeds and fluids switched to oral if respiratory distress improves
- Antibiotics like gent or ampicillin if there is evidence of infection
133
How is severe meconium aspiration managed?
- Ventilation via CPAP / mechanical ventilation
- Antibiotics - ampicillin and gent are initiated in all patients
- Supportive care - placed in a warmer, IV fluids (10% dextrsoe in water), NG feeds, feeds and fluids switched to oral if respiratory distress improves
- Endotracheal surfactant
134
What antibiotics are given for sepsis in newborns <72 hours?
* Gentamicin, benzylpenicillin
135
What antibiotics are given for sepsis in children <3m?
* Ceftriaxone/cefotaxime, amoxicillin
136
What antibiotics are given for sepsis in children <18?
* Ceftriaxone
137
What are the signs and symptoms of congenital diaphragmatic hernia?
- Respiratory compromise may be seen soon after birth
- Apex beat and heart sounds displaced to the
right side of the chest, with poor air entry in the left chest
- May hear tinkling bowel sounds on auscultation of the chest
- Scaphoid abdomen
138
What causes sickle cell disease?
People with sickle cell have an autosomal recessive point mutation in beta globin chain of HbA on chromosome 11 ⇒ HbS (abnormal sickle shape): valine ⇒ glutamine (11 because LL in cell looks like 11)
139
What is the pathophysiology of sickle cell disease?
HbS polymerises when deoxygenated ⇒ forms rigid insoluble clusters ⇒ cells become sickle shaped
Reversible at first but over time become irreversibly sickled as they lose their membrane flexibility ⇒ become dehydrated and dense
Damaged RBCs are haemolysed ⇒ anaemia (normocytic)
- Abnormally shaped, rigid RBCs can’t pass through vessels ⇒ block blood supply to various tissues ⇒ ischaemia
140
What are the signs and symptoms of sickle cell anaemia?
- Extreme episodes of pain
- Fatigue
- Poor growth and development - short, underweight, sexual maturation delayed
- Frequent infections
- Anaemia from RBC breakdown
- Jaundice from RBC breakdown
- Splenomegaly from RBC breakdown
141
How is sickle cell diagnosed in neonates?
* Newborn bloodspot at 5 days old
142
How is sickle cell diagnosed?
* Sickle solubility test - RBCs lysed to release Hb, Hb deoxygenated, HbS precipitates, solution goes cloudy (positive result)
* Gel electrophoresis -separates out HbA, HbS and HbF
* High performance liquid chromatography - detects different types of hemoglobin based on the retention time and shape of the peak compared to known controls - confirms diagnosis
* Bloods - high reticulocytes, normocytic anaemia, unconjugated hyperbilirubinaemia
* Blood film - sickles RBCs, target cells, Howell-Jolly bodies
143
How is sickle cell disease managed?
* Hydroxycarbamide - increases foetal Hb
* Blood transfusions for anaemia
* Iron chelating agents when they have repetitive transfusions
144
What are some acute complications of sickel cell disease?
* Acute vaso-occlusive crisis due to blocked capillaries (dactilitis, priapism)
* Splenic sequestration crisis due to blood pooling in the liver/spleen due to a distal blockage preventing blood fmor draining
* Aplastic anaemia
* Acute chest syndrome - caused by infection triggering hypoxia and therefore vaso-occlusion in the lungs
* Stroke
* Gallstones from haemolysis releasing uric acid
145
What causes acute chest syndrome?
Infection -> hypoxia -> sickling -> vaso-occlusion
146
What would be seen on a chest x-ray in acute chest syndrome?
* New infiltrates
* Patient would also have tachypnoea, chest pain, wheeze, cough, hypoxia
147
How is acute chest syndorme managed?
* IV antibiotics, exchange transfusion, analgesia, incentive spirometry
148
How is a splenic sequestration crisis managed?
* IV fluids
* Blood transfusions (because if blood is stuck in the spleen, the rest of the body is hypoperfused
* Splenectomy
149
What can slapped cheek syndrome cause in pregnant women?
Hydrops fetalis
150
What causes haemophilia A?
Mutation in the gene coding for factor VIII (component of the intrinsic pathway)
Cannot form a fibrin clot => bleeding
151
What causes haemophilia B?
Mutation in the gene coding for factor IX (component of the intrinsic pathway)
Cannot form a fibrin clot => bleeding
152
What mode of inheritance is haemophilia?
X linked recessive
153
How is haemophilia diagnosed?
* Bloods - low Hb for lots of bleeding
* Factor IX and VIII assays - reduced activity
* Clotting screen - prolonged APTT
154
How are major bleeds managed in haemophilia A and B?
A - recombinant factor VIII
B - recombinant factor IX
Supportive management includes TXA
155
How are minor bleeds managed in haemophilia A?
Desmopressin
156
What causes Von Willebrand's disease?
VWB deficiency, leading to inability to form a fibrin clot
157
How is VWBD diagnosed?
* APTT (prolonged), PT (normal)
* VWB level and activity assay
158
Are spontaneous bleeds more likely in VWBs or haemophilia?
Haemophilia - haemarthrosis may occur for example
159
What is the pathophysiology of ITP?
ITP is caused by a type II hypersensitivity reaction. It is caused by the production of antiplatelet IgG antibodies that target and destroy platelets, several weeks after a viral infection
160
How is mild-moderate bleeding managed in VWBD?
Desmopressin acetate (DDAVP) can be used to stimulate the release of VWF and FVIII
161
How can severe bleeding be managed in VWBD?
- ***VWF*** can be infused in severe bleeding
- ***Plasma derived Factor VIII*** is often infused along with plasma-derived VWF
162
What is the mode of inheritance in VWBD?
Autosomal dominant
163
Treatment is not usually required in ITP, but if there is severe thrombocytopenia, what may be used?
Prednisolone
164
What might osteosarcoma look like on an x-ray?
- Poorly defined lesion in the bone, with destruction of the normal bone and a fluffy appearance
- Sunburst appearance - periosteal reaction where the lining of the bone becomes irritated
165
What causes retinoblastoma?
Caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13 (RB1)
166
What are the signs and symptoms of retinoblastoma?
- Most common presenting complaint is absence of the red reflex, and replacement with leukocoria - white papillary reflex, which often shows up in photos
- Strabismus
- Visual disturbances
- Ocular pain
- Commonly unilateral but can be bilateral
167
What are the signs and symptoms of Wilm's tumour?
- **Unilateral, painless abdominal mass**
- **Haematuria**
- Abdominal / flank pain
- Lethargy
- Fever
- Hypertension
- Weight loss
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What are the Kocher criteria?
- Non-weight bearing - 1 point
- Fever >38.5ºC - 1 point
- WCC >12 * 10/L - 1 point
- ESR >40mm/hr - 1 point
169
What is the inheritance pattern of androgen insensitivity syndrome?
X linked recessive
170
How do you manage a child with asthma who has completed their 8 week trial of ICS and not had a recurrence of symptoms?
If they improved and didn’t reoccur, stop everything and review in 3 months
171
What investigation is used to diagnose Reye's syndrome?
Liver biopsy
172
Which part of the brain has reduced function in ADHD?
Frontal
173
What vitamins are children with cystic fibrosis likely to be deficient in?
children with cystic fibrosis are vulnerable to deficiency of fat soluble vitamins (A, D, E and K)
174
What is the treatment for otitis externa?
Topical acetic acid and corticosteroids
175
How is acute chest syndrome managed?
Oxygen, analgesia and antibiotics
Simple transfusion is an option if there is evidence of severe anaemia, and exchange transfusion might be considered if this doesn't work. Incentive spirometry is also used.
176
How is scarlet fever diagnosed?
- Clinical diagnosis
- Bacterial culture of the throat might be considered in certain circumstances
- Uncertainty about the diagnosis, suspected case as part of an outbreak, true penicillin allergy (to determine microbial sensitivity to find an alternative to penicillin V)
177
How is Hepatitis managed during pregnancy and delivery?
Newborns are given HBV IgG and HBV vaccination within 24 hours of delivery ⇒ prevents vertical transmission
178
What are the phases of whooping cough?
Catarrhal phase - coryzal symptoms, low grade fever, mild cough
Paroxysmal phase - persistent bouts of coughing followed by an inspiratory gasp - however this may not always be present in infants - it might be an apnoea/cyanosis instead
Convalescent phase - gradual reocvery, coughing spells are less persistent, disappears within 2-3 weeks but can last months
179
What is the treatment for localised non-bullous impetigo?
Hydrogen peroxide (unless it's near the eyes, then fusidic acid is used)
180
What is the treatment for generalised non-bullous impetigo?
Fusidic acid (or oral antibiotics)
181
How is mumps diagnosed?
Saliva swab/blood sample ⇒ IgM antibodies to mumps virus / PCR testing
