🗒️Q. Why Criggler Najjar syndrome can cause kernicterus, but Gilbert syndrome cannot?
Ans.
1. Gilbert syndrome is an autosomal recessive disorder that presents most commonly due to the addition of an extra dinucleotide sequence, TA, to the TATA promoter in the UGTA1A gene. UGTA1 enzyme activity is consequently 10-30% of its normal activity and presents with mild unconjugated hyperbilirubinemia with bilirubin levels < 5 mg/dl.  Jaundice occurs during times of stress or fasting when bilirubin levels are > 3 mg/dl.
2. Crigler-Najjar type 1 syndrome is an autosomal recessive disorder that occurs most commonly due to mutations in exons 2-5 of UGT1A1 and leads to complete or near complete loss of activity of the enzyme. Elevated unconjugated bilirubin levels between 20-45 mg/dl appear after birth, and life-threatening symptoms such as bilirubin encephalopathy (Kernicterus) arise.
3. Crigler-Najjar type 2 syndrome, also an autosomal recessive disorder, is the much milder variant of this disease, due to UGT1A1 functioning at < 10% of its capacity and presents with rare kernicterus during times of stress, fasting, or illness

Q4716)False about nephrotic syndrome?
a)Serum creatinine value is usually normal
b)Serum albumin level is < 2.5 g/dl
c)Serum cholesterol and triglyceride levels are elevated
d)Serum complement levels are low☑️

Q4717)Subclinical (echocardiographic) evidence of pathologic mitral regurgitation (MR) requires all except?
a)a jet is seen in ≥ 2 views
b)jet length is ≥ 1 cm in ≥ 1 view☑️
c)peak jet velocity is > 3 meters/second
d)peak systolic jet is in ≥ 1 envelope

Q4718)Dose of Aspirin for treatment of rheumatic carditis is?
a)10
b)25
c)50☑️
d)100 mg/kg/day

Q4719)Mutation in thyroid peroxidase gene leads to?
a)Iodide transport defect from blood into follicular cell
b)Defective iodide transport from follicular cell into colloid
c)Thyroid organification, or coupling defect☑️
d)Defects in H2O2 generation

Q4720)Which is false about congenital hypothyroidism?
a)Birth weight is normal
b)Birth length is normal
c)Head circumference is normal☑️
d)Posterior fontanel is widely open

Q4721)Spiculated RBCs are mostly seen in?
a)pyruvate kinase deficiency
b)β thalassemia
c)hereditary elliptocytosis
d)G6PD deficiency

Q4722)In Kleihauer-Betke preparation of the mother's blood, a 50-ml loss of fetal blood into the maternal circulation will show up how many fetal cells in the maternal circulation?
a)1
b)2
c)3
d)4%

Q4723)Fetal Rh Ag are present by which day after conception?
a)14th
b)28th
c)38th
d)56th

Q4724)Immunization is unlikely to occur unless how much ml of fetal blood enters the maternal circulation?
a)0.1
b)0.2
c)1
d)2

Q4725)A continuous feto-maternal bleed may occur in how much percent of normal pregnancies?
a)0.01
b)0.1
c)1
d)10

🗒️Q. What is the role of Clobazam in the prophylaxis of febrile seizures?

WHO Paediatric emergency triage, assessment and treatment guidelines, 2016.

Emailing Modified Kuppuswamy 2019.pdf