Paeds - Medicine Flashcards

1
Q

what is a robertsonian translocation?

A

long and short arms swap on acrocentric chromosomes

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2
Q

features of DS?

A
hypotonia
flat occiput
small low set ears
almond shaped eyes
single palmar crease
excess back of neck skin 
learning disability 
hearing loss
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3
Q

what congenital heart disease are those with DS at risk of? what type of murmur?

A

VSD

pan systolic murmur

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4
Q

what causes DS?

A

trisomy 21

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5
Q

when is the combined test carried out for DS?

A

11-13+6 wks

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6
Q

what are the results of the combined test in DS?

A

low PAPP-A
nuchal thickness
high HCG

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7
Q

what does the quadruple DS test measure? when is this done?

A

AFP
hCG
UE3
inhibin A

16 wks

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8
Q

what is klienfleters?

A

47XXY

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9
Q

features of klienfleters?

A
wide hips
gynacomastia
reduced libido
small testicles
weak muscles
infertile
tall
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10
Q

what is turner’s?

A

45XO

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11
Q

features of turner’s?

A
short stature
webbed neck
high palate
downward sloping eyes
broad spaced nipples
infertile
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12
Q

what congenital heart defects are those with turner’s at risk of?

A

VSD (pan systolic)

coarctation (weak femoral pulses)

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13
Q

what is the commonest hernia in kids? features?

A

indirect inguinal (through patent process vaginalis)

lateral to inferior epigastric

shows when kid cries

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14
Q

what are features of mesenteric adenitis?

Ix and Tx?

A

diffuse abdo pain
URTI
fever

US/CT

settles over time

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15
Q

what is toddler’s diarrhoea? Tx?

A

happens up to 5/6yrs due to colon immaturity

increase fat
loperamide

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16
Q

features of cow’s milk allergy?

A
2-72hrs after
itch
erythema
eczema
GORD
diarrhoea
usually around 6 months
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17
Q

Ix for cow’s milk allergy?

A

RAST

skin prick

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18
Q

Tx for cow’s milk allergy?

A

casein hydroxylate

rechallenge at 2yrs

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19
Q

Tx for GORD?

A

reassure
gaviscone
ranitidine

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20
Q

risk factors for constipation?

A
low fibre
low fluid
excess dairy
lack of exercise
obese
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21
Q

what is the criteria for constipation?

A

two of

<3 defecations a week

One episode of incontinence (child has been previously toilet trained)

Excessive retention or retentive posturing

Painful or hard bowel movements

Large fecal mass in rectum

Stools with large diameter that may obstruct the toilet

Present for at least 1 month

22
Q

Tx for constipation?

A

laxido

wean off after 6 months

23
Q

what is affected in CF?

A

autosomal recessive mutation in the CFTR gene (chloride channel)

24
Q

features of CF?

A
failure to thrive
wet cough
infections
malabsorption
reflux
constipated
25
Q

diagnostic criteria for asthma?

A

Wheeze/SOB/chest tightness/cough in episodes with no symptoms inbetween

Wheeze heard

diurnal variability

Atopic Hx

No other diagnoses

26
Q

Tx for asthma in kids?

A

SABA
ICS or LTRA (if <5yrs)

+ LABA/LTRA

+ LABA/LTRA/increase steroid
if LABA not working them remove

27
Q

what is the criteria for severe asthma in kids?

A
O2 <92%
PEF 33-50%
cant complete sentences
HR >125/140 (<5yrs)
RR >30/40 (<5yrs)
28
Q

what is the criteria for life threatning asthma in kids?

A

O2 <92%
PEF <33

exhausted
cyanosed
hypotensive
silent chest
poor resp effort
confused
29
Q

what is laryngomalacia?

A

supraglottic larynx flops over and causes partial airway obstruction when breathing

30
Q

features of laryngomalacia?

A

stridor
whistling sound
more prominent when upset

31
Q

Tx for laryngomalacia?

A

child grows out of it

32
Q

features of kawasaki disease?

A
fever 
strawberry tongue
rash 
abdo pain 
conjunctivitis
33
Q

Tx for kawasaki disease?

A

steroids
Igs
aspirin

34
Q

what is henoch schonlein purpura?

A

non ANCA disease

IgA associated immune complex deposition disorder

35
Q

what is assoc with henoch schonlein purpura?

A

IgA glomerulonephritis

AKI, HT/oedema, urinary sediment

36
Q

features of henoch schonlein purpura?

A
URTI weeks ago
purpuric rash 
joint pain
abdo pain
vomiting
37
Q

Tx for henoch schonlein purpura?

A

self limiting

paracetamol

38
Q

what is the inheritance of MODY?

A

aut dom

39
Q

what happens in CAH?

A

loss of 21 hydroxylase enzyme

low cortisol, low aldosterone
high androgens (testosterone)
40
Q

features of CAH?

A
ambigious genitalia
tall for age
precocious puberty
hyperpigmented skin 
electrolyte disturbances
41
Q

Ix for CAH? results?

A

U+Es (low Na, high K)

low BM

42
Q

Tx for CAH?

A

hydrocortisone

fludrocortisone

43
Q

how does vesicouteric reflux present in kids?

A

recurrent UTI/pyelonephritis

44
Q

what GN do kids most commonly get?

A

minimal change (nephrotic)

IgA

45
Q

what imaging do <6months get for recurrent UTI?

A

US + VCUG

46
Q

what imaging do 6months - 3yrs get for recurrent UTI?

A

US

47
Q

what imaging do >3yrs get for recurrent UTI?

A

US

renogram

48
Q

Tx for UTI?

A

<3 months: amox + gent
>3 months: trimethoprim
+ gentamicin if complicated UTI

49
Q

what is edwards/pataus?

A

edwards 18

patau 13

50
Q

what are signs of amber risk of illness in kids?

A
pale
>50/40 breaths
>160bpm
CRT >3
fever
51
Q

what are signs of red risk of illness in kids?

A

pale/mottles
>60 RR
reduced skin turgor
fever/seizures/neck stiffness