USMLE Cases Flashcards

1
Q

Young woman with neuro sx of tingling & difficulty concentrating + recurrent episodes of nonspecific abdominal pain. Sx are relieve by administration of hemin. What condition and what enzyme is deficient and which enzyme does hemin downregulate?

A

AIP (Acute intermittent porphyria)

Def. of PBG (Porphobilinogen deaminase)

Hemin downregulates ALA synthase (Aminolevulinate synthase)

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2
Q

What is the best way to manage a pt with Somatic Symptom disorder?

A

Schedule regular outpatient visits –> this will help avoid repeat unnecessary diagnostic testing and specialist referrals.

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3
Q

What is the best treatment for treatment-resistant schizophrenia?

A

Clozapine

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4
Q

What organism should you suspect in someone who is not up to date on vaccinations and has a paroxysmal cough lasting greater than 2 weeks. The coughing fits are significant and sometimes cause vomiting afterward.

A

Pertussis

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5
Q

Pulsus paradoxus (decrease in systolic BP of > 10 mmHg during inspiration) is seen in what conditions?

A

Cardiac tamponade (#1) / pericardial diseases

Others: COPD and severe asthma

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6
Q

This is caused by a lack of CD18 antigens on surface of leukocytes. You will often see delayed umbilical cord separation ( >21 days), poor wound healing, & recurrent infections with no pus. There will also be peripheral leukocytosis with neutrophilia. Why? And what is the disorder?

A

Leukocyte adhesion deficiency

Your leukocytes and neuts cannot migrate. Therefore you cannot form abscesses and will also have peripheral leukocytosis b/c they are all stuck in the blood.

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7
Q

A pt overdoses on SSRI’s or takes them in combo with MAOI’s, then develops serotonin syndrome. What amino acid is used in the synthesis of this? What is the antidote?

A

Tryptophan is the precursor to 5HT.

Antidote: Cyproheptadine

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8
Q

This disorder has a triad of Cafe-au-lait spots, endocrine abnormalities (esp precocious puberty and hyperthyroidism at early age), and fibrous dysplasia of bone (multiple osteolytic-appearling lesions of hip and pelvis). What is it and what is the pathogenesis?

A

McCune-Albright syndrome

Due to mosaic somatic mutation in the GNAS gene, which encodes for the stimulatory alpha subunit of G protein

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