PAEDS Flashcards
(143 cards)
1
Q
amblyopia.
A
When this occurs in childhood, before the eyes have fully established their neural connections, the brain will cope with this by redirecting the signal from the misaligned eye. This results in one eye they use to see the “dominant eye” and the one eye that they ignore “the lazy eye”. If not treated then this “lazy eye” becomes progressively more disconnected from the brain- over time worsening the situation.
2
Q
Concomitant squints
A
due to differences in the control of the extra ocular muscles
3
Q
Typical features of an innocent murmur?
A
o Soft o Short o Systolic o Symptomless o Situation dependent- Particularly when the murmurs get quieter with standing or appear when the child is unwell
4
Q
Symptoms promoting further investigation by a pads consultant if murmur present?
A
o Murmur louder than 2/6 o Diastolic murmurs o Louder on standing o Other symptoms such as: Failure to thrive Feeding issues Cyanosis SOB
5
Q
What murmur is heard with ASD?
A
• Cause a mid-systolic, crescendo-decresendo murmur, loudest at the left sternal border, with a fixed split second HS.
6
Q
Why does the split second HS occur in ASD?
A
• Splitting of the 2nd heart sound also occurs as the aortic valve and pulmonary valves close at slightly different times as a larger volume of fluid passes through the pulmonary valve. This is “fixed split” it does not vary on inspiration and expiration (normal to occur in some on inspiration)
7
Q
What key complication of ASD can occur? - for exam sake
A
o Can present with patient with VTE presenting with massive stroke Need to identify that the patient may have had a life long ASD asymptomatic and therefore clot could have bypassed the lungs getting straight to the brain
8
Q
What genetic conditions is VSD associated with?
A
They can occur in isolation but are commonly associated with Down’s syndrome and Turner’s syndrome.
9
Q
Would a loud or quiet pan-systolic murmur with VSD suggest its larger?
A
Quiet!
10
Q
Management of Eisenmenger syndrome?
A
• Once the PP is high enough to cause the syndrome. It is not possible to reverse this condition.
• The only definitive treatment Heart lung transplant (BUT V.High mortality and donor match is rare)
• Medical management:
o Oxygen
o Treat pulmonary HTN with Sildenafil(phosphodiesterase type5 Inhibitor- leads to vasodilation in the lungs)
o Treatment of arrythmias
o Treatment of polycythemia with venesection
o Prevent and treat thrombosis with anti-coag
o Prevent infective endocarditis with Abx.
11
Q
Jones criteria for diagnosis of RF
A
Jones criteria for diagnosis: • Diagnosis of RF made with evidence of recent strep infection with: o Two major or o One major and two minor criteria: (JONES FEAR) • Major criteria: o Joints o Organ inflammation (carditis) o Nodules o Erythema marginatum rash o Syndenham chorea • Minor criteria: o Fever o ECG (prolonged PR) o Arthralgia- without arthritis o Raised inflammatory markers (CRP and ESR)
12
Q
Cause of RF?
A
- RF is caused by group A Beta-haemolytic strep, typically strep pyogenes causing tonsilitis.
- The immune system creates Ab to fight infection, but these target antigens not ony found on the bacteria but also the cells of the body- ie the myocardium of the heart
- This leads to a TYPE 2 HYPERSENITIVITY REACTION, with the immune system attacking cells throughout the body. Process is usually delayed (2-4 weeks PI)
13
Q
Treatment of strep throat?
A
Phenoxymethylpenicilin (penicillin V) for 10 days
14
Q
Treatment of RF symptoms?
A
NSAIDs (e.g. ibuprofen) are helpful for treating joint pain
Aspirin and steroids are used to treat carditis
Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. These are continued into adulthood.
Monitoring and management of complications
15
Q
Complications of RF?
A
Recurrence of rheumatic fever
Valvular heart disease, most notably mitral stenosis
Chronic heart failure
16
Q
Patients with which CHD disease are at higher risk of developing sub acute infective endocarditis?
A
The risk is highest when there is a turbulent jet of blood, VSD, cortication of the aorta, PDA or if prosthetic material has been inserted during surgery.
17
Q
What scoring system can be used to diagnose IE?
A
Dukes modified criteria
18
Q
What is colic?
A
• Paroxsymal, inconsolable crying or screaming accompanied by drawing up of the knees and excessive flatulence takes place several times a day.
In the first months of life
19
Q
How many babies experience colic?
A
40%
20
Q
REDCURRANT JELLY STOOL
A
Intussuception
21
Q
When would you need a stool culture with GE?
A
• Stool culture needed if:
o the child appears septic
o Blood/mucus in stools
o Child is immunocompromised
22
Q
Most common cause of GE in children?
A
Rotavirus
23
Q
Most common bacterial cause of GE? Key symptom?
A
Campylobacter- severe abdo pain
24
Q
Oral rehydration regime?
A
50 ml/kg over 4hrs to replace deficit plus then maintenance fluid
25
How do you calculate maintenance fluid volumes?
Child’s Weight (kg) Fluid requirement for 24 hours
0-10kg 100ml/kg/day
10-20kg Requirement for the 1st 10kg (i.e. 1000ml)+ 50ml/kg/day
>20kg Requirement for the 1st 20kg (i.e.1500ml) + 20ml/kg/day
26
What are the 2 key Ab found in coeliac disease?
* Anti-tissue transglutaminase (anti-TTG)
| * Anti- endomysial (anti-EMA)
27
Hirschsprung’s disease?
Hirschsprung’s disease is a congenital condition in which the nerve cells of tbe myenteric plexus are absent in the distal bowel and rectum
28
What are the criteria for faltering growth?
* One or more centile spaces if their BW was under the 9th centile
* Two or more centile spaces if their BW was between the 9th and 91st centile
* Three or more centile spaces if their BW was over the 91st centile
29
High conjugated bilirubin causes?
Bile duct obstruction (Biliary atresia, choleductal cyst)
Neonatal hepatitis syndrome
Intrahepatic biliary hypoplasia
30
Alagille syndrome?
• This is a very rare AD (JAG1/NOTCH2) condition with widely varying penetrance even within families
• Clinical presentation:
o Triangular faces:
People with Alagille syndrome may have distinctive facial features too, including a broad, prominent forehead, deep-set eyes, and a small, pointed chin
o Skeletal abnormalities (butterfly vertebrae)
o CHD (classically peripheral pulmonary stenosis)
o Renal tubular disorders
o Defects in the eye
• Affects the liver through:
o Causing fewer and smaller bile ducts in the liver
o Leads to liver and scarring
• Infants may be profoundly cholestatic with severe pruritis and faltering growth
• Identifying the gene mutations confirms the diagnosis
• Treatment is to provide nutrition and fat soluble vitamins
• Pruritus is profound and difficult to manage
• A small no. will need liver transplant, but most survive to adult hood
• Mortality is usually secondary to the cardiac disease
31
What is phenotype is classically associated with alpha 1-antitrypsin?
PiZZ
32
Treatment of Hep C infection?
Pegylated interferon and ribavirin
33
Antiviral treatment for Hep B?
lamivudine and adefovir
34
What virus presents in 40% with hepatosplenomegaly?
EBV
35
What is the classic triad found in nephrotic syndrome?
* Low serum albumin
* High urine protein content
* Oedema
36
What causes Haemolytic uraemic syndrome?
Shiga toxin- shigella or E.coli 0157
37
What makes up the triad of symptoms seen in Haemolytic uraemic syndrome?
o Haemolytic anaemia: Anaemia caused by the RBCs being destroyed
o AKI: Failure of the kidneys to excrete waste products such as urea
o Thrombocytopenia: Low platelet count
38
Inactive vaccines
```
• Non-live version of the vaccines- cannot cause and infection and safe for immunocompromised patients even if they do not have an adequate response:
o Polio
o Flu vaccine
o Hep A
o Rabies
```
39
Subunit and conjugate vaccines:
```
• Only contain the part of the virus used to stimulate an immune response. They cannot cause infection and are safe to use in immunocompromised patients. Examples:
o Pneumococcus
o Meningococcus
o Hep B
o Pertussis
o HiB
o HPV
o Shingles (HZV)
```
40
Live attenuated vaccines:
```
• Contain a weakened for of the pathogen, unsafe in the immunocompromised as can still cause infection:
o MMR
o VZV
o Nasal influenzae vaccine
o BCG
o Rotavirus
```
41
Toxin vaccines:
• Contain a toxin normally produced by the pathogen, lead to immunity for the toxin, not the pathogen itself:
o Diptheria
o Tetanus
42
Women are now given a booster at 20 weeks for which virus?
Whooping cough-bordatella pertussis
43
Types of abuse:
* Physical
* Emotional
* Sexual
* Neglect
44
RF for abuse:
* Domestic violence
* Previously abused parent
* MH problems
* Emotional volatility in the household
* Social, psychological or economic stress
* Disability in the child
* Learning disability in the parents
45
Child abuse
Any form of maltreatment of a child inflicting harm or by failing to act to prevent harm
46
Klinefelter syndrome
47 XXY
47
Features of klinefelter syndrome?
```
o Taller height
o Wider hips
o Gynaecomastia
o Weaker muscles
o Small testicles
o Reduced libido
o Shyness
o Infertility
o Subtle learning difficulties (particularly speech and language)
```
48
Mx of Klinefelter syndrome?
• Diagnosis with karyotyping
• There is no way to treat underlying genetics causing Klinefelter syndrome. Treatment aims to help with features of the condition:
o Testosterone injections may improve many of the symptoms
o Advanced IVF techniques Have the potential to allow for fertility
o Breast reduction surgery- for cosmetic purposes
• MDT input:
o SALT
o OT- daily tasks
o Physio- strengthen muscles and joints
o Educational support- where required for dyslexia and other learning difficulties
49
Turners syndrome
a single X chromosome making them X0
50
Features of turners?
• Short stature
• Webbed neck
• High arching palate
• Down warding sloping eyes with ptosis
• Broad chest with widely spaced nipples
• Cubitus valgus
o This is an abnormal feature of the elbow. The arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body.
• Underdeveloped ovaries with reduced function
• Late or incomplete puberty
• Most women are infertile
51
Associated conditions, turners?
* Recurrent otitis media
* Recurrent UTIs
* Cortication of the aorta
* Hypothyroidism
* HTN
* Obesity
* Diabetes
* Osteoporosis
* Various specific learning disabilities.
52
Turner's syndrome?
a single X chromosome making them 45X0 (50%) in others there is deletion of the short arm of one of the X chromosomes.
53
Turner's features?
```
• Short stature
• Webbed neck
• High arching palate
• Down warding sloping eyes with ptosis
• Broad chest with widely spaced nipples
• Cubitus valgus
o This is an abnormal feature of the elbow. The arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body.
• Underdeveloped ovaries with reduced function (primary amenorrhoea)
• Late or incomplete puberty
• Most women are infertile
• Short 4th metacarpal
• Multiple pigmented naevi
• Lymphoedema in neonates
```
54
Associated conditions turners?
* Recurrent otitis media
* Recurrent UTIs
* Cortication of the aorta (5-10%), Bicuspid aortic valve (15%)
* Hypothyroidism
* Horseshoe kidney
* Increased risk of AI disease
* HTN
* Obesity
* Diabetes
* Osteoporosis
* Various specific learning disabilities.
55
Management of Turners?
There is no way to treat the underlying genetic cause of Turners syndrome. Treatment aims to help with the symptoms of the condition:
o Growth hormone therapy
o Oestrogen and progesterone
o Fertility treatment
Patients need monitoring for the associated conditions and complications. Treatable conditions such as HTN and Hypothyroidism should be managed appropriately.
56
Combined test for Down's
• The combined test is the first line, most accurate and the best choice if available.
• Performed between 11 and 14 weeks gestation
• US to measure the nuchal translucency, which is the thickness of the back of neck of the foetus.
o Nuchal thickness is >6mm.
• Maternal blood tests:
o Beta- HCG. Higher level leads to increased risk of Down’s syndrome
o Pregnancy-associated plasma protein- A (PAPPA) lower high risk
57
Triple test for Down's syndrome?
• Performed between 14 and 20 weeks gestation. Involves only the maternal blood tests.
• Maternal Blood tests:
o Beta- HCG (higher result is a higher risk)
o Alpha Foetoprotein (AFP). A lower result Higher risk.
o Serum oestriol (female sex hormone). A lower result indicates a greater risk.
58
Quadruple test for downs syndrome?
Quadruple test:
• The Quadruple test is performed between 14 and 20 weeks
• It is identical to the triple test but also includes measurement of inhibin-A.
• Higher inhibin-A represents an increased risk
o Beta- HCG (higher result is a higher risk)
o Alpha Foetoprotein (AFP). A lower result Higher risk.
o Serum oestriol (female sex hormone). A lower result indicates a greater risk.
59
Dysmorphic features of Down's?
• Hypotonia
• Brachycephaly (Small head with flat back, flat occiput)
• Single palmar crease- pronounced ‘sandal gap’ big and first toe
• Short neck
• Duodenal atresia
• Short stature
• Flattened face and nose
• Prominent epicanthic folds
• Upward sloping palpable fissures
• Single palmar crease
Epicanthic folds- are the folds of skin that overly the medial portion of the eye and the eyelid.
The palpable fissures are gaps between the lower and upper eyelid.
60
Complications with downs syndrome?
• Learning disability
• Recurrent otits media Can lead to development of hearing issues
• Deafness, Eustachian tube abnormalities lead to glue ear and conductive hearing loss
• Visual problems such myopia, strabismus and cataracts
• Hypothyroidism occurs in 10-20%
• Cardiac defects affect 1 in 3, particularly common are:
o Most common Endocardial cushion defect- 40%- AV septal canal
o VSD- 30%
o ASD-10%
o PDA- 5%
o Tetralogy of Fallot- 5%
• Atlantoaxial instability
• Hirschprungs
• Leukaemia is more common in children with Down’s
• Dementia is more common in adults with Down’s
• Infertility:
o Males are almost always infertile due to impaired spermatogenesis
o Females are usually subfertile.- issues with pregnancy and labour
61
Features of fragile X?
• Fragile X syndrome usually presents with a delay in speech and language development.
• Other features are:
o Intellectual disability
o Long, narrow face
o Large ears
o Large testicles after puberty
o Hypermobile joints (particularly in the hands)
o Attention deficit hyperactivity disorder (ADHD)
o Autism is common
o Mitral valve
o Seizures
62
Fragile X syndrome
* Fragile X syndrome is caused by a mutation in FMR1 (fragile X mental retardation 1) gene on the X chromosome.
* The FMR1 gene codes for the fragile X mental retardation protein, which plays a role in cognitive development of the brain. (Trinucleotide repeat)
* It is X-linked, but is unclear if it is dominant or recessive.
* Some 40-50% of female carriers have learning disabilities.
* Males are always affected, but females can vary in how much they are affected.
* This is because the females with have a copy of the FMR1 gene on their other X-chromosome.
* When the mother is phenotypically normal, the affected child may have inherited the X chromosome from their mother, or it may result from a de novo (random) mutation.
* Prevalence in males is 1 in 4000
63
Diagnosis of fragile X?
* Can be antenatal diagnosis via CVS or amniocentesis
| * Analysis of the number of CGG repeats using restriction endonuclease digestion and southern blot analysis.
64
Management of fragile X?
* There is no cure for the condition.
* Management is supportive and involves treating the symptoms
* This involves a MDT to support the learning disability, manage the autism and ADHD and treat seizures if they occur.
* LE is similar to the general population but dependent on the associated disabilities and the complications.
* Genetic counselling
65
Noonan's syndrome
* Noonan syndrome is a genetic condition.- often thought of as the male- turners.
* There are a number of different genetic causes
* Genetic defect on chromosome 12
* The majority are inherited in an autosomal dominant inheritance pattern
* There is variation in the signs and symptoms of Noonan syndrome, depending on the underlying cause.
66
Noonan's syndrome clinical features?
* Short stature
* Broad forehead
* Downward sloping eyes with ptosis
* Hypertelorism (wide space between the eyes)
* Prominent naso-labial folds
* Pectus carinatum and excavatum
* Low set ears
* Webbed neck
* Widely spaced nipples
* Triangular shaped heads
67
Noonan's syndrome associated conditions?
• Congenital heart disease, particularly:
o Pulmonary valve stenosis
o Hypertrophic cardiomyopathy
o ASD
• Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women.
• Learning disability
• Bleeding disorders
• Lymphoedema
• Increased risk of leukaemia and neuroblastoma
68
Angelman syndrome?
* Angelman syndrome is a genetic condition caused by the loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother.
* This can be caused by deletion on chromosome 15, a specific mutation in this gene or where two copies of this gene are contributed by the father- with non from the mother.
69
Features of Angelman?
```
Features:
• Delayed development and learning disability
• Severe delay or absence of speech development
• Co-ordination and balance issues (ataxia)
• Fascination with water
• Happy demeanour
• Inappropriate laughter
• Hand flapping
• Abnormal sleep patterns
• Epilepsy
• ADHD
• Dysmorphic features
• Microcephaly
• Fair skin, light hair, blue eyes.
• Wide mouth with widely
The novel features to remember are FASCINATION WITH WATER, HAPPY DEMEANOUR and WIDELY SPACED TEETH
```
70
Angelmans syndrome
```
ch 7 deletion: (7q11)
THE DISTINCTIVE FEATURES=
• SOCIABLE PERSONALITY
• STARBURST EYES
• WIDE MOUTH WITH A BIG SMILE
MOST LIKELY ASSOCIATIONS TO COME UP=
• SUPRAVALVULAR AORTIC STENOSIS AND HYPERCALCAEMIA
```
71
Edwards
```
Trisomy 18 [1 in 8,000]
Low birthweight
prominent occiput
Small mouth and chin
Short sternum
Flexed overlapping fingers
'rocker bottom' feet
Cardiac and renal malformations
```
72
Patau
```
Trisomy 13 [1 in 14,000])
Structural defect of the brain
Scalp defect
Small eyes (micropthalmia)
Cleft palate and lip
Polydactyl
cardiac and renal malformations
```
73
What are the genetics of CF?
* Cystic fibrosis (CF) is an autosomal recessive genetic mutation that affects the mucous glands.
* It is caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory gene (CFTR) on chromosome 7.
74
What treatment can you give to a patient to treat thick respiratory mucous?
Nebulised DNase
75
HbA
2 alpha
| 2 beta
76
HbF
2 alpha
| 2 gamma
77
Most common cause of anaemia in children?
Physiological anaemia of infancy
• There is a normal dip in the levels of Hb at around 6-9 weeks of age in healthy term babies.
• High oxygen delivery to the tissues caused by the high Hb levels at birth cause negative feedback (decreased production of EPO at the peritubular cells of the kidney).
• Lower levels of EPO Less production of Hb in the bone marrow.
78
Other non-haemolytic causes of anaemia in children?
o Anaemia of prematurity
o Blood loss
o Haemolysis
o Twin-twin transfusion syndrome
79
Causes of haemolysis in infancy?
o Haemolytic disease of the new-born (ABO or rhesus incompatibility)
o Hereditary spherocytosis
o G6PD deficiency
80
Key causes of anaemia in older children?
o Iron deficiency anaemia secondary to dietary insufficiency. (most common overall cause)
o Blood loss, Most frequently from menstruation in older girls.
81
Causes of Microcytic anaemia:
```
• Useful mneumonic- TAILS
o T- Thalassaemia
o A- Anaemia of chronic disease
o I- Iron deficiency anaemia
o L- Lead poisoning
o S- Sideroblastic anaemia (enough iron but cant incorporate it into Hb)
```
82
Causes of Normocytic anaemia:
```
o A- Acute blood loss
o A- Anaemia of chronic disease
o A- Aplastic anaemia
o H- Haemolytic anaemia
o H- Hypothyroidism
```
83
Causes of Macrocytic anaemia:
```
• Macrocytic anaemia can be megaloblastic or normoblastic.
• Megaloblastic- impaired DNA synthesis (preventing normal division- it continually grows- vit deficiency)
• Normoblastic- other
• Megaloblastic anaemia:
o B-12
o Folate deficiency
• Normoblastic macrocytic anaemia:
o Alcohol
o Reticulocytosis (H. anaemia or Blood loss)
o Hypothyroidism
o Liver disease
o Drugs- azathioprine
```
84
Signs symptoms to iron deficiency?
o Pica- dietary cravings for abnormal things such as dirt
| o Hair loss- can signify iron deficiency anaemia
85
What signs point out specific forms of anaemia?
o Koilonychia- spoon shaped nails can indicate iron deficiency anaemia
o Angular chelitis- can indicate iron deficiency
o Atrophic glossitis- smooth tongue due to atrophy of the papillae- can indicate iron deficiency
o Brittle hair and nails- iron deficiency
o Jaundice- haemolytic anaemia
o Bone deformities- Thalassemia
86
Ix for anaemia in children?
• FBC (Hb and MCV)
• Blood film
• Reticulocyte count
o High levels- compensation for lost cells associated with haemolysis or blood loss
• Ferritin (low iron deficiency)
• B12 and folate
• Bilirubin (raised in haemolysis)
• Direct coombs test (AI haemolytic anaemia)
• Haemoglobin electrophoresis (Haemoglobinopathies)
87
Beta thalassaemia?
* Beta-thalassaemia is caused by defects in beta globin chains. The gene coding for this is located on chromosome 11.
* This gene defect can either can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta globin protein at all.
88
Beta thalassaemia minor?
Patients with beta thalassemia minor are often carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene. (heterozygous)
Thalassaemia minor causes a mild microcytic anaemia and usually patients require only monitoring with no active treatment
89
Beta thalassaemia intermedia?
Patients with beta thalassaemia intermedia have 2 abnormal copies of the beta globin gene. This can either be two defective genes or one defective gene and one deletion gene. (heterozygous)
Thalassaemia intermedia causes a more significant microcytic anaemia
Patients need monitoring and occasional blood transfusion
If the need more then a few then could also need iron chelation.
90
Beta thalassaemia major?
Patients with beta thalassaemia major are Homozygous for the deletion genes. They have no functional beta globin genes.
This is the most severe form- presents with severe anaemia and failure to thrive in early childhood.
Causes:
• Severe microcytic anaemia
• Splenomegaly
• Bone deformities
• Recurrent infections
• Hepatosplenomegaly- liver and spleen become extra sites of haematopoesis
Mx:
• Regular transfusions, iron chelation and splenectomy.
• Bone marrow transplant can be currative
91
Alpha thalassaemia?
• Alpha thalassaemia is caused by defects in alpha globin chains. The gene coding for this is located on chromosome 16.
• Clinical severity is dependent on the number of alpha globulin alleles affected:
o If 1 or 2 then the blood pictures is hypochromic, microcytic anaemia but the Hb level can be normal
o If there are 3 alleles affected then there is a hypochromic microcytic anaemia with splenomegaly HbH disease (4 beta chains)
o If all 4 alpha globulin alleles are affected you get Hb barts (all gamma chains) this is incompatible with life and leads to death in utero (Hydrop’s fetalis)
• Management:
o Monitoring the FBC
o Monitor for complications
o Blood transfusions
o Splenectomy may be performed
o Bone marrow transplant can be curative
92
Signs and symptoms of thalassaemia?
* Microcytic anaemia (Low MCV)
* Fatigue
* Pallor
* Jaundice
* Gallstones
* Splenomegaly
* Poor growth and development
* Pronounced forehead and malar eminences
93
Ix for thalassaemia?
• FBC (microcytic anaemia)
• Haemoglobin electrophoresis- diagnosis globulin abnormalities
• DNA testing
o Pregnant women are offered a screen for thalassaemia at booking
94
Iron overload management?
```
• Occurs in thalassaemia due to the faulty creation of RBC’s, recurrent transfusions and increased iron abosorption in the gut due to anaemia.
• Patients with thalassaemia need to have their serum ferritin levels monitored for iron overload.
• Iron overload management Iron chelation (oral Deferiprone)
o Otherwise iron overload can cause:
Fatigue
Liver cirrhosis
Infertility
Impotence
HF
Arthritis
DM
Osteoporosis and joint pain
```
95
Key concern with thalassaemia?
Iron overload! (due to repeated transfusions)
96
What causes sickle cell globulin?
HbS forms as a result of a point mutation in
codon 6 of the β-globin gene,which causes a change
in the amino acid encoded from glutamine to valine.
97
Which factor is affected in haemophilia A?
Factor VIII
98
Which factor is affected in haemophilia B?
Factor IX
99
Treatment of acute bleed in haemophiliac?
o Infusions of the affected factor (A:VIII, B:IX)
o Desmopressin to stimulate the release of vWF
o Antifibrinolytic (Tranexamic acid)
100
Bleeding into the joints and muscles is characteristic of?
Haemophilia
101
Causes of joint pain in 0-4 year olds?
o Septic arthritis
o Developmental dysplasia of the hip (DDH)
o Transient synovitis
102
Causes of joint pain in children aged 5-10 years?
o Septic arthritis
o Transient synovitis
o Perthes disease
103
Causes of joint pain in children aged 10-16 years?
o Septic arthritis
o Slipped upper femoral epiphysis (SUFE)
o Juvenile idiopathic arthritis
104
What X-ray finding is associated with respiratory distress syndrome?
Ground glass appearance
105
What is chronic lung disease of prematurity?
* Chronic lung disease of prematurity is also known as bronchopulmonary dysplasia.
* It often occurs in premature babies, typically those born before 28 weeks gestation.
* These babies suffer from RDS and need oxygen therapy and intubation/ventilation at birth.
* Diagnosis is made based on the CXR and when the infant still requires oxygen after they reach the 36 weeks gestational age.
106
How is risk of CLDP reduced?
• There are several measures that can be taken to minimise the risk of CLDP.
• Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at under 36 weeks can speed up the development of fetal lungs before birth and reduce the risk of CLDP
• Once the neonate is born the risk of CLDP can be reduced by:
o Using CPAP rather than intubation and ventilation when possible
o Using caffeine to stimulate respiratory effort
o Not over-oxygenating with supplementary oxygen
107
What it is the longterm Mx of patients with CLDP?
• A formal sleep study to asses their oxygen sats during sleep supports the diagnosis and guides management
• Babies can be discharged from the neonatal unit on a low dose of O2 to continue at home- 0.01 L per minute via nasal cannula. Then weaned off O2 over the first year of life.
• Babies with CLDP, need protection against Respiratory syncytial virus (RSV) to reduce the risk and severity of bronchiolitis.
• This involves monthly injections of monoclonal Ab to the virus- Palivizumab
o Very expensive (£500 per injection) so babies need to meet a set criteria
108
Risk factors for meconium aspiration?
```
• Higher rates occur where there is a Hx of:
o Maternal HTN
o Pre-eclampsia
o Chorioamnionitis
o Smoking
o Substance misuse
```
109
Causes of HIE?
o Maternal shock
o Intrapartum haemorrhage
o Prolapsed cord
o Nuchal cord, cord wrapped around the babies head.
110
Features of mild HIE?
* Poor feeding, generally irritability and hyper-alert
* Resolves within 24 hours
* Normal prognosis
111
Features of moderate HIE?
* Poor feeding, lethargic, hypotonic and seizures
* Can take weeks to resolve
* Up to 40% develop cerebral palsy
112
Features of Severe HIE?
* Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes
* Up to 50% mortality
* Up to 90% develop cerebral palsy
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What is used in the treatment of HIE? (minus supportive)
o Therapeutic hypothermia is an option in some circumstances to prevent damage to the brain from hypoxia
Babies on or near term
Actvely cool the baby according to a strict criteria
Temp is carefully kept at 33-34 degrees, measured with a rectal probe
Continued for 72 hrs before warming back over 6 hrs period
Intention is to reduce the inflammation and neurone loss in acute hypoxia.
Reduces the risk of cerebral palsy, developmental delay, LD, blindness and death.
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Causes of neonatal jaundice?
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• Increased production of bilirubin:
o Haemolytic disease of the newborn
o ABO incompatibility
o Haemorrhage
o IV haemorrhage
o Cephalohematoma
o Polycythaemia
o Sepsis and DIC
o G6PD deficiency
• Decreased clearance of bilirubin:
o Prematurity
o Breast milk jaundice
o Neonatal cholestasis
o Extrahepatic atresia
o Endocrine issues (hypothyroid and hypopituitary)
o Gilbert syndrome
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Why can breast feeding cause neonatal jaundice?
o Components of the breast milk inhibit the activity of the liver in processing bilirubin.
o Breastfed babies are more likely to become dehydrated from poor feeding
o Inadequate breast feed may lead to slow passage of stools, increasing bilirubin uptake from the intestine
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Prolonged jaundice?
• Jaundice is “Prolonged” when it lasts longer than expected for physiological jaundice. This is:
o More than 14 days in term babies
o More than 21 days in preterm babies
• Prolonged jaundice should prompt further Ix for underlying cause.
• These are particularly important for looking into conditions causing persistent jaundice after neonatal period:
o Biliary atresia
o Hypothryoidism
o G6PD deficiency
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Management of bilirubin levels?
• Bilirubin levels are plotted on an adjust chart and then over the threshold need:
Phototherapy is usually adequate to correct neonatal jaundice.
• Extremely high levels need to require an exchange transfusion.
• Exchange infusion involves removing the foetal blood and replace it with donor blood.
118
What 3 criteria need to be met to consider stopping abx for sepsis?
1. Consider stopping the Abx if the baby is clinically well,
2. the LP is negative
3. blood cultures are negative
4. the CRP is normal at 5 days
119
Key RF for GBS neonatal sepsis?
o PROM
o Choroamniotitis
o Maternal fever in labour (over 38 degrees)
o Previous infected infant
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Mx of neonatal sepsis?
Benzylpenicillin and gentamicin
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RF for cleft palate/lip?
* Polygenic inheritance
* Maternal anti-epileptic use
* cleft lip results from failure of the fronto-nasal and maxillary processes to fuse
* cleft palate results from failure of the palatine processes and the nasal septum to fuse
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Complications of cleft lip/palate?
* Cleft lip or cleft palate is not life threatening, although it can lead to sig. problems with feeding, swallowing and speech.
* It can also have sig, psychosocial implications, including affecting the bond between the mother and child
* Surgery generally resolves these issues.
* Children with cleft palate can be more prone to hearing issues, ear infections (OM) and glue ear.
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When are cleft lip/palate surgeries performed?
• Cleft lip surgery is usually performed at 3 months, cleft palate at 6-12 months
124
RF for neonatal hypoglycaemia?
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o IUGR
o Born to mothers who have DM
o Macrosomia
o Hypothermic
o Polycythemic
o Ill for any reason
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125
What level is aimed for when treating hypoglycaemia in neonates to maintain neurodevelopment?
• Some studies show that levels of >2.6 mmol/l are optimal for neurodevelopmental outcomes
126
What are the features of congenital rubella syndrome?
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• Features:
o Congenital cataracts
o CHD (PDA and pulmonary stenosis)
o Learning disability
o Hearing loss
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Why can VZV be so dangerous in pregnancy?
o More severe cases in the mother such as:
Pneumonitis
Hepatitis
Encephalitis
o Foetal varicella syndrome
o Severe neonatal varicella infection if mum is infected at time of delivery
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Some one has developed a VZV rash in the morning and come to A&E that afternoon what is the Mx?
• If chicken pox does begin in pregnancy then need to give oral acyclovir if they present within 24 hrs of symptom development and are more than 20 weeks gestation
129
A patient thinks they have been exposed to chicken pox and are unsure if they have had the virus before (they are also pregnant) how do you manage this patient?
o If the women has had VZV before they are safe
o If they are not sure test the VZV IgG levels
o If they are not immune, treat with IV varicella Ig to prevent contraction. This should be given within 10 days of exposure
130
Features of CMV?
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o FGR
o Microcephaly
o Hearing loss
o Vision loss (chorioretinitis)
o Learning disability (periventricular calcification)
o Seizures
```
131
How do patients catch CMV?
• Mainly spread by the saliva of infected asymptomatic children
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How to patients catch congenital toxoplasmosis?
* Infection with the Toxoplasma gondii parasite is usually asymptomatic.
* It is primarily spread by contamination with faeces from a cat- this is the host of the parasite
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Classic triad of congenital toxoplasmosis?
o Intracranial calcification
o Hydrocephalus
o Chorioretinitis
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Congenital Zika syndrome?
o Microcephaly
o FGR
o Other intracranial abnormalities (ventriculomegaly and cerebellar atrophy)
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How long after birth do neonates develop symptoms of withdrawal?
• Withdrawal from most opiates, diazepam, SSRIs and alcohol occurs between 3-72 hrs after birth. Withdrawal from methadone and other benzodiazepines occurs between 24 hrs and 21 days.
136
For how long after birth are babies usually monitored for NAS?
• Babies are kept in hospital and monitored on a NAS chart for at least 3 days (48 hrs for SSRI AD) to monitor for withdrawal symptoms.
137
Medical management of NAS?
o Morphine sulfate for opiate withdrawal
| o Phenobarbitone for non-opiate withdrawal
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WHO classifications of prematurity?
o Under 28 weeks: Extreme preterm
o 28-32 weeks: very preterm
o 32-37 weeks: moderate to late preterm
139
Causes of neonatal apnoea?
```
o Infection
o Anaemia
o Airways obstruction
o CNS pathology, such as seziures or haemorrhage
o GORD
o Neonatal abstinence syndrome
```
140
Management of neonatal apnoea?
* Neonates are attached to apnoea monitors
* These make a sound when apnoea occurs
* Tactile stimulation can be used to prompt the baby to restart breathing
* IV caffeine can be used to prevent apnoea and bradycardia in children with recurrent symptoms.
* Episodes will settle as the baby grows
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Screening for retinopathy of prematurity?
• Babies born under 32 weeks or under 1.5 kg need screening for ROP.
• Screening is performed by an ophthalmologist.
• Screening starts at:
o 30-31 weeks gestational age if born <27 weeks
o 4-5 weeks of age in babies born after 27 weeks
• Screen every 2 weeks and cease when the vessels enter zone 3. (usually at around 36 weeks).
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Management of retinopathy of prematurity?
• Systemic targeting of areas of the retina to stop new vessels forming:
o 1st line transpupillary laser photocoagulation to halt and reverse neovasculation.
• Other options are cryotherapy and injections of VEGF inhibitor.
• May need surgery if detachment occurs.
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Causes of paediatric hydrocephaly?
Arnold Chiari malformation:
The cerebellar tonsils descend into the cervical canal.
Association with spina bifida is common
Syringomyelia may develop
Stenosis of the aqueduct of Silvius (IV aqueduct)
Aqueduct stenosis is wither congenital (genetic) or acquired following neonatal meningitis/haemorrhage
Dandy-Walker syndrome:
There is cerebellar hypoplasia and obstruction to the 4th ventricle outflow system
