key points to remember Flashcards
electrolyte abnormality in CAH
- metabolic acidosis
- hyponatraemia
- hyperkalaemia
- raised 17 hydroxy progesterone
electrolyte abnormality in bartter syndrome
- metabolic alkalosis
- hypokalaemia
- hyponatraemia
- hypochloraemia
- high calcium in urine
- high renin and aldosterone (normal bP)
management of bartter syndrome
- sodium chloride and potassium supplements
- indomethacin
difference between type 1 and 2 RTA
type 1 = distal = urinary ph >5.5 reduced bicarb, acidosis
type 2 = proximal = urinary ph <5.5
electrolyte abnormality in tumour lysis syndrome
- hyperkalaemia
- high uric acid
- high phosphate
- low calcium
- metabolic acidosis
oxygen and CO2 dependent on with ventilator settings
CO2 -> minute ventilation -> increase RR or PIP or tidal volume to clear cO2
O2 -> mean airway pressure -> increase PEEP to increase O2
stages of periventricular haemorrhage
1 - haemorrhage in germinal matrix
2 - IVH without dilatation
3- IVH with ventricular dilatation
4- IVH with intraparenchymal haemorrhage
how to calculate mid parental height
(mums height + dads height +/- 13) / 2
diagnosis of asthma
- FeNO >35 ppb
- > 20% peak variability
- FEV1/FVC <70% (OBSTRUCTIVE)
- bronchodilator reversibility >12% FEV1
side effects of rifampicin
orange coloured secretions
deranged LFT
side effects of isoniazid
peripheral neuropathy
side effects of pyrazinamide
hepatotoxicity
increased uric acid
tests in diabetes insipidus
- hypernatraemia
- high serum osmolality
- low urine osmolallity 750
ECG in hyperkalaemia
- tall tented T waves
- flat p waves
- prolonged PR interval
ECG in hypokalaemia
- prominent u waves
- ST depression
- T wave inversion
EEG in encephalitis
periodic sharp wave in frontal and temporal lobes
difference in bone age in constitutional vs familial short stature
familial short stature - normal bone age
constitutional short stature - delayed bone age
blood film in hodgkins lymphoma
reed sternberg cells = multinucleated, giant lymphocyte, distinct halo
post strep glomerulonephritis investigations
- low C3, normal C4
- low CH50
Features of nephritic syndrome
- haematuria
- reduced renal function
- oliguira
- HTN
features of vit E deficiency
- neuropathy
- retinopathy
- hyperreflexia
- malabsorption
adrenaline dose in resus
1 in 10,000
0.1ml/kg
adrenaline dose in anaphylaxis
1 in 1000
< 6 mo - 0.1
6 mo- 6 y/o - 0.15mls (150 micrograms)
6 - 12 y/o - 0.3mls
>12 y/o - 0.5mls (500 micrograms)
red flag signs for anorexia
- % median BMI <70%
- severe haematemesis
- bradycardia <40bpm
- low temp <35.5
- postural drop >20
eye tests at 4 + 6 weeks old
visual evoked potentials
optokinetic nystagmus
eye tests at 10 months old
identify and pick up objects
eye tests at 2-3 y/o
identify mini toys at 3m
eye tests at 3-4 yo
optotype matching tests
gene mutations in mODY
type 1 - HNF4- alpha
type 2 - GCK
type 4 - HNF1- alpha
type 5 - HNF1-B
treatment for pertussis
azithromycin
genetics in diabetes and coeliac
type 1 diabetes - DR3/4
coeliac - DQ2/8 , IgA ttG
hearing loss in decibels
profound >95 (cochlear implant)
severe 71- 95 (hearing aid)
moderate 41-70
mild 21-40
newborn hearing tests
- automated acoustic emissions
- if fail, auditory brainstem response
hearing tests at different ages
6-24 mo - distraction test
6mo-3 yr - visual reinforcement audiometry
>3 yo - speech perception test
> 4 yo - play audiometry
difference in webers and rinnes test
RINNES
b/l +ve = normal
+ve = air >bone -> if on one side sensorineural
-ve = bone >air -> conductive hearing loss
WEBERS
localise to one side -> sensorineural deafness in other side
findings in autoimmune hepatitis
- raised serum IgG
- low albumin
- deranged clotting
- deranged LFT
antibodies in graves vs hashimotos
GRAVES - anti TSH
HASHIMOTOS - anti TPO
GCS eye values
4 - eyes open spontaneously
3 - eyes open to speech
2- eyes open to pain
1 - none
GCS motor values
6 - spontaneous movements
5 - localises pain
4- normal flexion to pain
3-abnormal flexion to pain
2- extension to pain
1- none
GCS verbal values
5 - orientated
4 - confused
3 - inappropriate words
2- incomprehensible sounds
1 - none
ECG changes in R ventricular hypertrophy
tall R waves in V1 + V4
deep S waves in V5 + V6
upright T waves in V1 and V4
ECG changes in L ventricular hypertrophy
tall R waves in V5 + V6
deep s waves V1 + V4
inverted T waves 1 and AVl
neurofibromatosis criteria
Cafe au lait spots >5mm before puberty / >15mm after
Axillary or inguinal freckling
Fibroma - >2 neurofibroma
Eye - >2 lisch nodules
Sphenoid dysplasia
Positive FH
Optic glioma
Tibial pseudoarthrosis
patau features
trisomy 13
polydactyly
caput aplasia
small eyes
edwards features
trisomy 18
overlapping fingers
rocker bottom feet
cleft
IUGR
low set ears
VSD
investigations for tyrosinaemia
increased succinylacetone
investigations for metachormatic leukodystrophy
urinary sulfatide +ve
cause of william syndrome
microdeletion of chromosome 7
trinucleotide repeats
Friedrics ataxia - GAA
fragile X - CGG
congenital myotonic dystrophy - CTG
blood film in beta thalassaemia
target cells
basophilic stripping
nucleated red blood cells
inheritance of wiskott aldrich
X linked recessive
reduced IgM, high IgA and IgE
inheritence of haemophilia and G6PD
X linked recessive
heart defect in marfans
aortic root dilatation
mitral valve regurgitation
galactosaemia investigations
- raised GAL-1-P
- red cell enzyme levels - reduced GALT
murmur in tricuspid regurgitation
holosystolic
heard best at lower L sternal border
radiates to R sternal border
wide split 2nd heart sound
murmur in pulmonary stenosis
ejection systolic
heard best at upper l sternal border
radiates to back
thrill and click
murmur in mitral regurgitation
pansystolic
loudest at apex
radiate to axilla
side effects carbamazepine
steven johnson
ataxia
thrombocytopenia
hyponatraemia
side effects phenytoin
gingival hyperplasia
vit D and folate deficiency
nystagmus and ataxia
steven johnson
hirsuitism
side effects keppra
psychosis anxiety, behaviour change
steven johnson
long QT
insomnia
side effects valproate
hair loss
tremor
weight gain
deranged lFTs
teratogenic
investigation for chediak hagashi
peroxidase stained blood film
what is sensitivity
% who correctly identify as positive with positive test
true positive / true positive + false -ve
what is specificity
% who correctly have a negative test if dont have the disease
what is positive predictive value
probability that a positive test correctly identifies those with the disease
describe case control
retrospective where cases identified and matched with controls and if exposed to risk factor
describe cohort
2 groups identified and one is exposed to risk and other group not exposed
describe cross sectional
observational study and determine prevalence of disease at particular time
statistical tests for numerical date
- two sample t test - compare 2 means of normal distributed data
- ANOVA - compare multiple means
- mann whitney - compare 2 means of non normal distributed data
statistical tests for categorical test
- fishers - independent categories and compare associated between the 2
- chi square compare multiple proportions between multiple groups