Random Two Flashcards
Spinal muscular atrophy
Autosomal recessive
Chromosome 5q (long arm)
Survival motor neuron gene
Gbs
Occurs is 5 to 14 days post infection
Campylobacter jejuni
Mycoplasma pneumonie
T-cell mediated autoimmune
anti-gangliosidesantibodies
Miller Fischer
Anti Gq antibody
Triad- ataxia
Arefelexia
Ophthalmoplegia
Dúchenne Muscular dystrophy
Short arm of chromosome X P. 21.
Less that five yr
Frameshift/nonsense
Proximal muscle weakness
Wadding gait
Grower sign.
Inv- CPK
Faciosopaculohumeral dystrophy
Autosomal dominant
Defective gene, FSHDI
Idiopathic hypertrophic pyloric stenosis
Use of macrolides either by mother during pregnancy period or newborn baby is associated with IHPS
Vomiting appears to 3 weeks after birth, never starts immediately. Olive shades swelling is usually noted after the vomiting episode on the epigastric region.
Peristalsis is from left right side
Investigations for IHPS
String sign
double track sign,
shoulder sign,
mushroomin
Polyhydramnios
Duodenal atresia
Oesophageal atresia
Hirschsprung
Nutation in RET proto oncogene
Sandifer
Sudden episodes of spasm
Diagnosis: monitoring of oesophageal ph <4
Multichannel intraluminal impedance monitoring
Caeliac disease
Brow
Genetic predisposition- HLA DQ2
HLA DQ8
Diagnosis- jejunal biopsy
Anti-tissue transglutaminase antibody
Anti endomysial antibody
Cystic fibrosis
Cftr gene
Located on the chromosome 7q
M/c mutation- F508
Deletion of phenylalanine at 508th position.
Circulatory changes at birth
Umbilical vessels- functional closure [(at/ soon, after birth) same for ductus venosus/ foramen ovale)]
Ductus arteriosus -10 to 14 hrs after birth
Structural closure -
UV- 5-10 days
DV- 3-7
FO- 3 months up to a few years
DA- 10-21
REMNANTS-
UV= ligamentum teres
UA- medial umbilical ligament
DV= ligamentum venosium
FO= Fossa ovalis
DA= ligamentum arteriosum
Hereditary nephritis
Aka Alport syndrome
X-linked dominant.
Congenital nephrotic syndrome
NPHS 1- nephrin
NPHS 2 - podocin
