Paeds - Medicine Flashcards by Anna Brown

what is a robertsonian translocation?

long and short arms swap on acrocentric chromosomes

How well did you know this?

Not at all

Perfectly

features of DS?

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

How well did you know this?

Not at all

Perfectly

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

VSD

pan systolic murmur

How well did you know this?

Not at all

Perfectly

what causes DS?

trisomy 21

How well did you know this?

Not at all

Perfectly

when is the combined test carried out for DS?

11-13+6 wks

How well did you know this?

Not at all

Perfectly

what are the results of the combined test in DS?

low PAPP-A
nuchal thickness
high HCG

How well did you know this?

Not at all

Perfectly

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

AFP
hCG
UE3
inhibin A

16 wks

How well did you know this?

Not at all

Perfectly

what is klienfleters?

47XXY

How well did you know this?

Not at all

Perfectly

features of klienfleters?

wide hips
gynacomastia
reduced libido
small testicles
weak muscles
infertile
tall

How well did you know this?

Not at all

Perfectly

what is turner’s?

45XO

How well did you know this?

Not at all

Perfectly

features of turner’s?

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

How well did you know this?

Not at all

Perfectly

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

VSD (pan systolic)

coarctation (weak femoral pulses)

How well did you know this?

Not at all

Perfectly

what is the commonest hernia in kids? features?

indirect inguinal (through patent process vaginalis)

lateral to inferior epigastric

shows when kid cries

How well did you know this?

Not at all

Perfectly

what are features of mesenteric adenitis?

Ix and Tx?

diffuse abdo pain
URTI
fever

US/CT

settles over time

How well did you know this?

Not at all

Perfectly

what is toddler’s diarrhoea? Tx?

happens up to 5/6yrs due to colon immaturity

increase fat
loperamide

How well did you know this?

Not at all

Perfectly

features of cow’s milk allergy?

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

How well did you know this?

Not at all

Perfectly

Ix for cow’s milk allergy?

RAST

skin prick

How well did you know this?

Not at all

Perfectly

Tx for cow’s milk allergy?

casein hydroxylate

rechallenge at 2yrs

How well did you know this?

Not at all

Perfectly

Tx for GORD?

reassure
gaviscone
ranitidine

How well did you know this?

Not at all

Perfectly

risk factors for constipation?

low fibre
low fluid
excess dairy
lack of exercise
obese

How well did you know this?

Not at all

Perfectly

what is the criteria for constipation?

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

Tx for constipation?

laxido

wean off after 6 months

what is affected in CF?

autosomal recessive mutation in the CFTR gene (chloride channel)

features of CF?

failure to thrive
wet cough
infections
malabsorption
reflux
constipated

diagnostic criteria for asthma?

Wheeze/SOB/chest tightness/cough in episodes with no symptoms inbetween Wheeze heard diurnal variability Atopic Hx No other diagnoses

Tx for asthma in kids?

SABA ICS or LTRA (if <5yrs) + LABA/LTRA + LABA/LTRA/increase steroid if LABA not working them remove

what is the criteria for severe asthma in kids?

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

what is the criteria for life threatning asthma in kids?

O2 <92% PEF <33 ``` exhausted cyanosed hypotensive silent chest poor resp effort confused ```

what is laryngomalacia?

supraglottic larynx flops over and causes partial airway obstruction when breathing

features of laryngomalacia?

stridor whistling sound more prominent when upset

Tx for laryngomalacia?

child grows out of it

features of kawasaki disease?

``` fever strawberry tongue rash abdo pain conjunctivitis ```

Tx for kawasaki disease?

steroids Igs aspirin

what is henoch schonlein purpura?

non ANCA disease IgA associated immune complex deposition disorder

what is assoc with henoch schonlein purpura?

IgA glomerulonephritis | AKI, HT/oedema, urinary sediment

features of henoch schonlein purpura?

``` URTI weeks ago purpuric rash joint pain abdo pain vomiting ```

Tx for henoch schonlein purpura?

self limiting | paracetamol

what is the inheritance of MODY?

aut dom

what happens in CAH?

loss of 21 hydroxylase enzyme ``` low cortisol, low aldosterone high androgens (testosterone) ```

features of CAH?

``` ambigious genitalia tall for age precocious puberty hyperpigmented skin electrolyte disturbances ```

Ix for CAH? results?

U+Es (low Na, high K) | low BM

Tx for CAH?

hydrocortisone | fludrocortisone

how does vesicouteric reflux present in kids?

recurrent UTI/pyelonephritis

what GN do kids most commonly get?

minimal change (nephrotic) IgA

what imaging do <6months get for recurrent UTI?

US + VCUG

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

what imaging do >3yrs get for recurrent UTI?

US | renogram

Tx for UTI?

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

what is edwards/pataus?

edwards 18 | patau 13

what are signs of amber risk of illness in kids?

``` pale >50/40 breaths >160bpm CRT >3 fever ```

what are signs of red risk of illness in kids?

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