Combank 3

Question 1

What type of mutation is fragile x syndrome?

Answer 1

Trinucleotide repeat

CGG

Question 2

A history or recurrent sinopulmonary infections in a young male beginning at age 6 months is highly suspicious for

Answer 2

X-linked agammaglobulinemia or brutons

Question 3

What are two types of pathogens most commonly affecting x linked agamma kids?

Answer 3

Encapsulated and giarda because of low IA

Question 4

What is the most common renal neoplasm in childhood?

Answer 4

Wilms tumor

Question 5

How do g6p dehydrogenase individuals become symptomatic and give 3 examples?

Answer 5

Most patients are asymptomatic but when they are exposed to stress then oxidation really cranks up. Most common triggers include fava beans, infections, and certain drugs (antimalarials, sulfonamides etc.). Hemolytic attacks typically present with malaise, weakness, abdominal and/or back pain followed by jaundice and dark urine several hours to days later. Patients may present with gallstones due to excess bilirubin from increased heme breakdown.

Question 6

What is the clinical trio of PKU?

Answer 6

fair skin, eczema, and intellectual disability for phenylketonuria.

Question 7

Painless gastrointestinal bleeding is the most common presentation of?

Answer 7

Meckel’s diverticulum.

Question 8

What will physical exam show in torsion of testicular appendage?

Answer 8

Physical examination reveals a palpable, small, tender and indurated mass on the upper pole of one testis. Classically, this may be visible through the scrotal skin with a bluish hue.

Question 9

What screening tool is used to screen for autism?

Answer 9

MCHAT

Question 10

benign newborn skin rash, which presents as small papular or pustular lesions with surrounding erythema. Skin biopsy of the skin lesions reveals numerous eosinophils?

Answer 10

Erythema toxicum neonatorum

Question 11

Bladder extrophy is commonly associated with what condition in make babies?

Answer 11

Epispadias

Question 12

What is the most common type of congenital adrenal hyperplasia?
What is diagnostic of it?

Answer 12

21-hydroxylase

An elevated blood level of 17-hydroxyprogesterone

Question 13

Kallmann’s syndrome is associated with what 2 things?

What is the mechanisms of the problem?

Answer 13

Kallmann’s syndrome is associated with primary amenorrhea without secondary sexual characteristics due to lack of pulsatile GnRH release because the neurons did not migrate during development

Question 14

3 lab values of liddle syndrome?

Answer 14

Hypertension, hypokalemic, metabolic alkalosis

Question 15

Pyloric stenosis is associated with what lab values?

Answer 15

Pyloric stenosis is associated with hypokalemic, hypochloremic metabolic alkalosis.

Question 16

At what age does a kid start to show empathy?

Answer 16

15 months