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PHASE 3A > PAEDS - genetics, infectious diseases > Flashcards

PAEDS - genetics, infectious diseases Flashcards

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1
Q

what is turner’s syndrome?
how is it denoted?

A
  • affects females
  • presence of only one X chromosome
  • 45, XO or 45, X
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2
Q

what causes turner’s?

A

a nondisjunction/sporadic mutation meaning there is only 1 or a partially missing X chromosome

NOT INHERITED

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3
Q

RFs for Turner’s

A

no known RFs

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4
Q

features of Turner’s and some associated conditions (3)

A
  • primary amenorrhoea
  • short stature
  • widely spaced nipples
  • webbed neck
  • high arched palate

other = short 4th metacarpal, hypothyroidism, horseshoe kidney, heart defects

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5
Q

what is the most common renal abnormality associated with turner’s?

A

horseshoe kidney

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6
Q

what heart defect is associated with turner’s?

A

bicuspid aortic valve (most common)

coarctation less common

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7
Q

when may Turner’s be identified? how?

A
  • suspected on prenatal USS (horseshoe kidney)
  • if suspected can do amniocentesis/chorionic villus sampling
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8
Q

postnatal investigations for turner’s

1st line and GS

A

1st = bloods - raised FSH/LH (due to ovarian insufficiency)

GS = karyotyping

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9
Q

why is there high levels of FSH and LH in turner’s?

A

ovarian failure > no negative feedback from oestrogen > FSH and LH continue to rise

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10
Q

once a diagnosis of Turner’s has been made, what investigations can be done to check for other problems? (4)

A
  1. echo
  2. renal tract USS (renal tract)
  3. pelvis USS (ovaries)
  4. DEXA scan
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11
Q

ddx for Turner’s

A

William’s
gonadotropin deficiency e.g. Kallman’s

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12
Q

management of Turner’s including medications

A
  1. MDT
  2. hormone replacement therapy
    - oestrogen
    - progesterone
    - growth hormone
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13
Q

when would oestogren and progesterone be started and stopped in a patient with Turner’s?

A
  • started at age 11
  • stopped around 50
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14
Q

main complication of Turner’s

name some other complications? (4)

A

main = aortic dilatation and dissection

other = autoimmune thyroiditis, Crohn’s, horseshoe kidneys, cystic hygroma

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15
Q

what is William’s syndrome?

A

a neurodevelopmental disorder caused by a microdeletion on chromosome 7

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16
Q

cause of William’s

A

random deletion around conception (NOT inherited)

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17
Q

signs and symptoms of William’s

A
  1. starburst eyes
  2. short stature
  3. long philtrum (upper lip)
  4. very sociable, trusting
  5. mild learning disability
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18
Q

what metabolic change is William’s associated with after birth?

A

transient neonatal hypercalcemia

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19
Q

which heart defect is William’s associated with?

A

supravalvular aortic stenosis

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20
Q

gold std investigation for William’s

A

genetic testing (FISH)

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21
Q

ddx for Williams

A
  1. Turner’s
  2. ADHD
  3. Noonan syndrome
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22
Q

management for Williams (3)

A
  1. MDT
  2. monitor with echos, BP
  3. low calcium diet and avoid calcium supplements
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23
Q

4 associated conditions with Williams

A
  1. supravalvular aortic stenosis
  2. ADHD
  3. HTN
  4. hypercalcemia
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24
Q

what causes kawasaki’s

A

a type of medium vessel vasculitis

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25
when does kawasaki disease most commonly present
<5
26
who is kawasaki disease more prominent in
Japanese and Afro-Caribbean children
27
signs and symptoms of kawasaki disease
CRASH AND BURN C - conjunctivitis R - rash A - adenopathy (swollen glands) S - strawberry tongue H - hands: palmar erythema and swelling HIGH FEVER (39) >5 days (resistant to antipyretics)
28
investigations for kawasaki
clinical diagnosis but must do ECHO for aortic aneurysm
29
complication of kawasaki disease
coronary artery aneurysm
30
ddx for kawasaki
scarlet fever
31
management of kawasaki disease
1. high dose aspirin 2. IV immunoglobulins NOTIFIABLE DISEASE
32
what causes measles?
RNA paramyxovirus
33
when is measles infectious
from when sx first appear to four days after onset of rash
34
measles was common prior to... why?
1968 - MMR vaccine intro
35
RFs for measles (3)
1. unvaccinated 2. immunosuppression 3. recent contact w infected person
36
presentation of measles
1. prodrome lasting a few days - fever, coryzal 2. koplik spots in mouth (red/white) 3. maculopapular erythematous rash starting from behind ears and descending to rest of body 4. fever >39
37
investigations for measles
contact health protection team they will send oral fluid testing kit for IgM/IgG and/or viral RNA testing
38
management of measles how long should the child be off school?
1. notify PHE 2. self-limiting disease so supportive management 3. off school for 4 days from onset of rash
39
complications of measles - what's most common?
most common = otitis media others - pneumonia, encephalitis, febrile convulsions, myocarditis
40
what causes rubella
togavirus
41
RFs for rubella (2)
1. unvaccinated/unclear imms hx 2. developing countries
42
presentation of rubella
1. prodrome - low grade fever which resolves 2. then RASH - beings in face, spreads down body 3. palatal petechiae 4. lymphadenopathy - suboccipital and postauricular general = headache, sore throat
43
investigations for rubella
- normally clinical - if need to confirm then bloods (IgM) and viral PCR
44
management of rubella how long should the child be kept off school?
1. notifiable disease! 2. supportive tx off school until at least 5 days after rash onset
45
what causes chickenpox
varicella zoster virus
46
what is chickenpox?
a primary varicella zoster infection
47
presentation of chickenpox
1. RASH - starting on trunk/face and spreading all over - widespread, erythematous, raised, vesicular blistering lesions - itchy 2. fever 3. general fatigue/malaise
48
what is the life cycle of the rash in chicken pox?
macular > papular > vesicular > crusted
49
management of chickenpox in <14 when should children stay off school until?
self-limiting... 1. trim nails 2. calamine lotion 3. consider antihistamine e.g. chlorpheniramine off school until all lesions crusted
50
prophylactic tx of chickenpox in immunocompromised/newborns with peripartum exposure
varicella zoster immunoglobulins (VZIG)
51
management of chickenpox in immunocompromised/children >14
acyclovir
52
what med shouldnt be given in chicken pox? why
NSAIDs - risk of necrotising fasciitis
53
what is molloscum contagiosum caused by?
MCV - molloscum contagiosum pox virus
54
incubation period of molloscum contagiosum
2-8 weeks
55
presentation of molloscum contagiosum
1. firm, smooth papules with small depression in centre (umbilicated), white/pink/brown 2. in moist areas - armpit, groin, genitals
56
management of molloscum contagiosum when does it resolve?
self-limiting - can use emollient/mild topical steroid for itching resolves by itself in 18 months
57
causative agent of roseola infantum
human herpes virus 6
58
congenital heart defect in fragile X
mitral valve prolapse
59
fragile x - what mutation - who
- FMR1 gene (trinucleotide repeat on x chromosome) - males
60
presentation of fragile X (6)
1. delay in S&L development, cognitive difficulties 2. long, thin face 3. big ears 4. autism, ADHD 5. microorchidism 6. hypermobile joints
61
Edward's syndrome is trisomy...
18 (three copies of chromosome 18 rather than two)
62
pathophys and prognosis of a) full edward's syndrome b) mosaic edward's c) partial edward's
a) extra chromosome 18 present in all cells, v severe and often die before born b) extra chromosome 18 in just some cells, most babies live for a year c) only a section of the extra chromosome 18 is in cells, least severe
63
presentation of edward's syndrome
1. micrognathia (jaw undersized) 2. low-set ears 3. ROCKER-BOTTOM FEET 4. overlapping fingers
64
results of HcG and PAPP-A bloods in screening for edward's and patau's
low beta-HCG, low PAPP-A
65
features of down's syndrome (8)
1. short stature and neck 2. prominent epicanthal folds 3. upward sloping parebral fissures 4. single palmar crease 5. bradycephaly (small head with a flattened back) 6. hypotonia 7. conductive hearing loss/cataracts 8. flattened nose bridge
66
screening for DS a) first-line tests, when and what do they involve? b) results in DS
a) combo triple test - 11-13 weeks gestation - USS for nuchal translucency, maternal bloods for beta-HcG and pregnancy-associated-plasma-protein-A (PAPP) quadruple test - 14-20 weeks gestation - maternal bloods: beta-HcG, AFP, serum oestriol, inhibin A b) triple test - thickened nuchal (>6mm), high HcG, low PAPP quad test - high HcG, low AFP, low oestriol, high inhibin A
67
GS antenatal screening for DS - when is this done?
only if risk score is greater than 1 in 150! amniocentesis (AF biopsy) or chorionic villus (placental biopsy)
68
GS postnatal test for DS
bloods: QF-PCR test and G-banded analysis
69
cardiac cx in DS (3)
1. tetralogy of fallot 2. VSD/ASD/AVSD 3. PDA
70
later life complications of DS (4)
1. subfertility 2. ALL 3. hypothyroidism 4. Alzheimer's
71
causes of SJS
1. NSAIDs 2. allopurinol 3. anti-epileptics e.g. carbamazepine, phenytoin, lamotrigine 4. antibiotics e.g. penicillin
72
signs and symptoms of SJS
following starting a new medication... 1. early flu-like sx 2. RASH - red/purple, peeling, blistering 3. MUCOSAL involvement - eyes, lips, mouth, pharynx, oesophagus, GI tract, kidneys.... - corneal ulceration, uveitis, blepharitis - oesophageal strictures - vaginal stenosis, penile scarring
73
what sign is positive in SJS and SSSS?
Nikolsky's sign - epidermal layer sloughs off when pressure applied
74
diagnostic ix for SJS and result
skin biopsy - keratinocyte apoptosis
75
management of SJS
1. STOP causative drug 2. transfer to burn centre/wound care 3. conservative care - wound care, analgesia, fluids, nutrition
76
what organism causes scalded skin syndrome?
staph aureus
77
examples of infections preceding staph scalded skin syndrome?
- nappy rash - impetigo - cellulitis - eye infection
78
pathophys of SSSS
1. staph aureus produce epidermolytic toxins 2. these toxins break down proteins holding skin together
79
presentation of SSSS
RECENT INFECTION... 1. initially miserable, lethargic, fever 2. tissue-paper skin with wrinkling 3. then bullae in groin, armpits, orifices 4. painful widespread rash resembling burn/scald
80
management of SSSS
1. IV fluids 2. systemic IV abx
81
which CHD is most associated with noonan syndrome?
pulmonary stenosis
82
patau syndrome is trisomy...
13
83
RF for patau syndrome
advanced maternal age
84
signs and symptoms of patau syndrome in utero
IUGR
85
signs and symptoms of patau syndrome at birth
1. cleft lip and palate 2. microphthalmia (small eyes) 3. microcephaly 4. polydactyly 5. ear malformations, deafness
86
prognosis of patau syndrome
poor - unlikely to survive first few days of life
87
ddx of patau syndrome
edward's syndrome (can both present with rocker bottom feet)
88
presentation of prader-willi syndrome
- obesity (constant insatiable hunger) - hypotonia - hypogonadism

PHASE 3A (18 decks)

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