BIO-Q Flashcards

1
Q

Glucose-6–phosphate dehydrogenase deficiency features

A

Most common enzyme disorder
Recurrent hemolysis (dark urine)
Triggered by Fava beans, infections or drugs(sulfa drugs,anti-malarials)
Males (x-linked)
Africa
Heinz bodies, bite cells

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2
Q

Baby who just moved from breast feeding to solids, presents with hypoglycemia + lactic acidosis + ketosis, think of

A

Hereditary fructose intolerance

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3
Q

NB presents with hypoglycemia + lactic acidosis + ketosis right after being breast fed, think of

A

Galactosemia

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4
Q

Baby presents with hypoglycemia + lactic acidosis + ketosis during fasting period, think of

A

Glycogen storage disorder

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5
Q

Maple syrup urine disease is characterized by urine sweet smell. Results from ___

A

Alfa-ketoacid dehydrogenase complex def

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6
Q

Fatty acid disorder features

A

3 or more months old babe
Hypoketotic hypoglycemia*

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7
Q

Carnitine def and MCAD def are examples of

A

Fatty acid disorders

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8
Q

NB with lethargy, vomiting, seizures and severe isolated hyperammonemia (>1000, NV:<50), which enzyme is likely def?

A

Ornithine trancarbamylase

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9
Q

Orotic aciduria features

A

Megaloblastic anemia
Poor growth
Normal ammonia levels (dif from OTC def)

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10
Q

Suspect mitochondrial disease (pyruvate dehydrogenase def) when

A

Elevated alanine
Severe lactic acidosis

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11
Q

Hypoglycemia + urinary sugars soon after babe feeds, suspect

A

Galactosemia or HFI

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12
Q

Piruvate kinase def causes atp depletion which causes

A

Hemolysis (due to defective mb) and splenomegaly (due to red pulp hyperplasia)

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13
Q

Maple syrup disease physiopatholpgy

A

Alfa-keto acid dehydrogenase absence cannot breakdown leucine, isoleucine and valine -> accumulate-> neurotoxicity

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14
Q

Baby with microcephaly, seizures, hypopigmentation dysreg mood, appetite, sleep, think of

A

Tetrahydrobiopterin impaired synthesis (BH4)
Phenylalanine, tyrosine and tryptophan/serotonin affected

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15
Q

Features of an old cerebral infarct

A

Enlarged ventricle
Cystic cavity with loss of volume
Tissue destruction by lysosomal enzymes (liquefactive necrosis)

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16
Q

Which GI hormone produces HCO3

A

Secretin (s cells from duodenum)
Cholecystokinin

17
Q

In which step of the TCA is GTP made?

A

From succinyl-CoA to Succinate rx

18
Q

Hereditary angiodema features

A

Childhood/teens
Face/extremities swelling
Triggered by small trauma/stress
No itching/pain
-C1 inh def-> excess C1-> low C4

19
Q

What things come from the neural crest?

A

Adrenal medulla
Melanocytes
Meninges, Schwann cells, skull
Branchial arches

20
Q

Rare, life-threatening diseases req a high ( sensitivity/specificity )test

A

Sensitivity

21
Q

Pt with recent increased activity, decreased sleep, racing thoughts, pressured speech, grandiose and paranoid delusions, thin of ___. Treat with___

A

Acute manic episode
D2 antagonist antipsychotics (haloperidol)

22
Q

Pt with recent acute manic episode presents with fever, confusion and autonomic disfx, think of

A

Neuroleptic malignant sd due to D2 antagonist

23
Q

Oculocutaneous albinism
Pyogenic infections
Progressive neurologic dysfunction
Think of

A

Chédiak-Higashi syndrome

24
Q

Congenital heart disease
Dysmorphic facies
Hypocalcemia
Think of

A

DiGeorge sd

25
Q

Severe bacterial & viral infections in infancy
Chronic diarrhea
Mucocutaneous candidiasis
Think of

A

Severe combined immunodef

26
Q

• Recurrent infections that worsen with age
• Easy bleeding
• Eczema
Think of

A

Wiskott-Aldrich sd

27
Q

G6PD deficiency alters NADPH production which affects

A

Cholesterol and fatty acid synthesis
Glutathione supply

28
Q

Baby with bulge on the neck, comfortable only when held sideways, favors look towards one side, cries when turning head towards op side, think of

A

Congenital torticolis
(due to birth trauma, intrauterine malposition)

29
Q

Young pt with Polyarthralgia, tenosinovitis, painless postules on extremities, think of

A

Disseminated gonococica infection

30
Q

Restrictive vs obstructive pattern on spirometry and graph

A

Restrictive: increased FEV1/FVC. graph: higher y, shorter x
Obstructive: Reduced FEV1/FVC. Graph: lower y, longer x

31
Q

Recombinant HBsAg vaccine mec

A

Has envelope glycoproteins that prevent viral attachment and penetration of hepatocytes

32
Q

Cardiac catheterization path and pressure

A

Insertion: subclavian/ int jugular vein
SVC and RA - 1 to 6 mmHg
Tricuspid valve and RV - 15 to 30 mmHg
Pulm artery- 6 to 12 mmHg

33
Q

Drug of choice for Trigeminal neuralgia

A

Carbamazepine