formatigev Flashcards
1
Q
- Karyotype for Klinefelter syndrome
A
= 45XXY
2
Q
- 3rd fontanelle:
A
downs, hypothyroidism
3
Q
- DMD- can present with
A
large calf muscles, lumbar lordosis, decreased strength and absent reflexes
4
Q
- Aortic coarctation on examination
A
weak femoral pulse, pale or grey appearance, cold feet or legs
5
Q
SMA affects
A
- Anterior horn cells or LMN are affected in SMA (spinal muscular atrophy)
6
Q
- Most common bacterial CAP in 4 year old :
A
strep pneumoniae
7
Q
- G6PDH deficiency features
A
haemolytic anaemia, triggered by infections, Abx and anti-malarials, and fava bean (favism)
8
Q
- neuroblastoma Ix =
A
urinary catecholamines
9
Q
- URTI, ankle oedema, urine shows blood and protein :
A
IgA nephropathy
10
Q
- prolongued neonatal jaundice investigations:
A
Gal-1put, Split billuribin, LFT
11
Q
- most concerning lymph nodes -
A
supraclavicular, not so much bilateral cervical
12
Q
- bumps head, goes pale and stiff then jerking movements, groggy for a few mins:
A
Reflex asystolic syncope
13
Q
- CF diagnostic investigation
A
- sweat test
14
Q
- normal serum and urine osmolality in water deprivation test-
A
psychogenic polydypsia
15
Q
- 7 month old with E coli UTI responds to Abx within 48 hours, first UTI Imaging
A
= no further imaging reqiured (An ultrasound should be performed within 6 weeks of the UTI for any child under 6 months old who has a first-time UTI that responds to treatment.)
