NBME 30

Question 1

_______ is very much like Kwashiorkor, but without the edema, skin lesions, or fatty liver. Look for it to present earlier in life than Kwashiorkor.

Answer 1

Marasmus

Question 2

Pellagra is a deficiency of ____, which is characterized by Dementia, Diarrhea, and Dermatitis.

Answer 2

Niacin (Vit B3)

Question 3

_______ is results from an Autosomal Dominant mutation in FGFR3, leading to impaired growth of long bones.

Answer 3

Achondroplasia

Question 4

Porphyria Cutanea Tarda is caused by a deficiency of the enzyme ________ ________, an enzyme in the Heme production pathway –> leads to the buildup of _____, which are excitable by visible light and can lead to severe photosensitivity.

Answer 4

Uroporphyrinogen Decarboxylase

Uroporphyrinogen III

Question 5

PKU, resulting from a deficiency in ______ ______, can present with a mousy odor of the skin and urine.

Answer 5

Phenylalanine Hydroxylase

Question 6

Leuprolide is a ______ analog.

Answer 6

GnRH

Question 7

_______ are the most common brain tumor in adults, and often arise inferiomedially to the frontal lobe.

Answer 7

Meningiomas

Question 8

OCPs are contraindicated in women who are _____ years of age or older and who smoke more than ____ cigarettes per day.

Answer 8

35

15

Question 9

_____-_____ disease refers to Osteochondrosis or traction apophysitis of the Tibial Tubercle –> typically occurs in adolescence from overuse.

Answer 9

Osgood-Schlatter

Question 10

Iron-deficiency anemia presents with _______ (RBC morphology) on blood smear.

Answer 10

Microcytes

Note: Macrocytes would be seen in B12 deficiency

Question 11

Waardenburg syndrome results from abnormal development of _____ _____ cells. Patients present with patchy areas of hypopigmentation, heterochromia of the irises, and potentially a white forelock of hair. It follows an Autosomal _____ mode of inheritance.

Answer 11

Neural Crest cells

Autosomal Dominant

Question 12

Treatment of Hemochromatosis involves serial _______ and management of secondary disorders.

Look for patients to present with hyperpigmentation, diabetes mellitus secondary to liver failure, and dilated cardiomyopathy.

Answer 12

Serial Phlebotomy

Question 13

Zellweger Syndrome results from a genetic mutation that leads to the absence of ______, which are responsible for metabolizing Very Long Chain Fatty Acids (VLFAs), ethanol, peroxide, and more.

Look for patients to present with seizures, intellectual disability, absence of reflexes, and liver failure.

Answer 13

Peroxisomes

Question 14

Cleidocranial dysplasia is results from impaired differentiation of ______ because of an underlying mutation in the CBFA1 gene.

Answer 14

Osteoblasts

Question 15

Maple Syrup Urine Disease is caused by a deficiency in the enzyme _____ ____ ____ ____ _____ complex. Treatment involves restriction of 3 amino acids:

1. _____
2. _____
3. _____

Answer 15

Branched Chain Alpha Keto-Acid Dehydrogenase complex

1. Valine
2. Leucine
3. Isoleucine

Question 16

Galactosemia leads to failure to thrive, neurologic deficits, and ______.

Answer 16

Cataracts

Question 17

A hallmark of _____ disorder is apprehension about when the next attack will occur.

Answer 17

Panic Disorder

Question 18

Slate grey nevus (aka dermal melaocytosis) is characterized by a blue-grey patch on the _____ or _____ of a neonate of _____ descent.

Answer 18

Back

Buttocks

Asian

Question 19

The rise in Estrogen during pregnancy increases the plasma concentration of circulating proteins, including _____ _____ _____.

Bonus: What effect would that have on T4 levels?

Answer 19

Thyroid Binding Globulin

Total T4 would increase, but free T4 would be normal (as would TSH)

Question 20

Benzodiazepines (e.g. Diazepam) are positive ______ _______ of the ionotropic GABA-a receptor.

Answer 20

Allosteric Modulators

Question 21

Major risk factors for Papillary Transitional Cell Carcinoma include Cigarette smoking, ____ dyes, and 2-_______.

Answer 21

Aniline dyes

2-Naphthylamine

Question 22

EBV infect _____ lymphocytes through use of CD___. However, atypical cells on peripheral blood smear will typically be ____ lymphocytes.

Answer 22

B-lymphocytes

CD21

CD8+ T-Lymphocytes

Question 23

Glutamate binds the ______ receptor in the CNS.

Answer 23

NMDA

Question 24

______ ______ is an inflammatory condition of the spine that classically presents in younger males. The associated back pain is often relieved with Exercise.

Answer 24

Ankylosing Spondylitis

Question 25

Vit __ deficiency can present with hemolytic anemia, generalized muscle weakness, and posterior column + spinocerebellar tract demyelination.

Answer 25

Vit E

Question 26

Tacrolimus and Cyclosporine are ______ inhibitors (impairs T-lymphocyte activation) commonly used in Immunosuppression for patients who received solid organ transplants.

Answer 26

Calcineurin

Question 27

Celiac disease presents with ______ atrophy, and thus, malabsorption.

Answer 27

Villous

Question 28

Contact Dermatitis is a Type _____ hypersensitivity reaction. Look for patients to presents with weeping vesicles with surrounding erythema.

Answer 28

Type IV

Question 29

Burkitt Lymphoma is a mature B-cell neoplasm associated with dysregulation of the _____ gene on Chromosome ___ (most commonly from a reciprocal t(__;__) translocation).

Answer 29

C-myc

8

t(8;14)

Question 30

Malignant Melanoma is commonly associated with ______ mutations, especially _____-to-_____ ___ substitution at codon 600.

Answer 30

BRAF

Valine-to-Glutamic Acid (BRAF V600E)

Question 31

_______ ______ refers to the sensitization of an Rh-negative mother during first pregnancy to Rh-positive fetus, with resulting hemolytic anemia in the fetus of a subsequent pregnancy with Rh-positive fetus.

Answer 31

Erythroblastosis Fetalis

Question 32

Actinic Purpura refers to what?

Answer 32

Blood vessel fragility in the elderly (age-related dermal collagen atrophy) following sun exposure leading to bruising.

Question 33

______ personality disorder (a cluster B disorder) is characterized by lack of empathy and results in pervasive violations of other’s rights, aggression, hostility, and a manipulative attitude toward others.

Answer 33

Antisocial Personality Disorder

Question 34

Adenosine Deaminase (ADA), the enzyme that converts Adenosine to Inosine in the purine salvage pathway, deficiency is a primary cause of ______.

Answer 34

SCID

Question 35

Pick Disease is also called ________ dementia and is characterized by atrophy of the frontal and temporal lobes, causing deficits in social behavior and personality changes. Avg age of onset is around 60.

Answer 35

Frontotemporal Dementia

Question 36

Baclofen is a _____ relaxer that acts via activation of ______ receptors in muscle spindle afferents.

Answer 36

Muscle relaxer

GABA

Question 37

_______ is to Succinylcholine as Acetylcholinesterase is to Acetylcholine.

Answer 37

Pseudocholinesterase

Question 38

Beta-2 microglobulin can form insoluble fibrils in patients with ____-____ renal disease on _____. It has a tendency of depositing in the joints.

Answer 38

End-stage renal disease

Dialysis

Question 39

Exposure to an oxidant stressor like an anesthetic, dapsone, or _____ (usually from fertilizers) can precipitate Methemoglobinemia. Iron in hemoglobin becomes _____ (oxidation state), leading to less oxygen binding/delivery to tissues.

How does blood appear in these patients?

Answer 39

Nitrates

Fe3+

Blood appears dark/brown

Question 40

Insulin activates _______ in hepatocytes while Glucagon activates _______ ______.

Answer 40

Glucokinase

Phosphorylase Kinase

Question 41

Leber Hereditary Optic Neuropathy results from a genetic mutation of Complex _____ in the ETC, responsible for oxidizing NADH, but not FADH2. The mutation has a _______ mode of inheritance.

Answer 41

Complex I

Mitochondrial

Question 42

Rheumatoid Arthritis can be treated with _______, which inhibits TNF-alpha. If the disease persists, it is likely due to inflammation mediated by ______, which increases RANK ligand signaling and subsequent Osteoclast activation.

Answer 42

Adalimumab

IL-1