USMLE 18

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Author:
rere_girl4ever
ID:
293605
Filename:
USMLE 18
Updated:
2015-01-22 18:35:59
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USMLE
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USMLE
Description:
USMLE
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  1. When does implantation occur?
    6 days after ovulation
  2. When does β-hGC secretion occur?
    8 days after ovulation
  3. How do we calculate attributable risk with respect to relative risk?
    AR= (RR-1)/ RR
  4. What gene is mutated in Friedreich ataxia?
    Trinucleotide repeat disorder (GAA) on chromosome 9 in gene that encodes frataxin (iron binding protein)
  5. This disease has a gene mutation on chromosome 9
    Friedreich ataxia
  6. This disease is characteristic of a gene mutation that encodes frataxin.
    • Friedreich ataxia
    • Trinucleotide repeat disorder (GAA) on chromosome 9 in gene that encodes frataxin (iron binding protein)
  7. What are the causes of death in Friedreich ataxia?
    • 1. Hypertrophic cardiomyopathy
    • 2. Bulbar dysfunction (unable to protect airway)
  8. This disease presents in childhood with Kyphoscoliosis.
    Friedreich ataxia
  9. What is the pathology seen below and in which disease is it usually found?
    Pes cavus- Freidreich ataxia, Charcot-marie tooth disease
  10. What is the pathology seen below and in which disease is it usually found?
    Hammer toes- Friedreich ataxia
  11. Which diseases are ppts with Friedreich's ataxia at high risk of developing?
    • Diabetes mellitus
    • Hypertrophic cardiomyopathy
  12. Describe the presentation of Friedreich ataxia.
    • Presents in childhood with kyphoscoliosis.
    • Gait ataxia -progressively slow and clumsy walking
    • Staggering gait, frequent falling
    • Wide based gait with difficulty maintaining balance is characteristic.
    • Loss of position and vibration sensation (degeneration of dorsal columns and spinocerebellar tracts)
    • Pes cavus
    • Hammer toes
    • Diabetes mellitus
    • Hypertrophic cardiomyopathy
  13. Describe the presentation and findings of Severe combined immunodeficiency.
    • Presentation: Presents in infancy as failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal and protozoal infections.
    • Findings: Absent thymic shadow, absent germinal centers and absent T cells, hypogammaglobulinemia↓T cell receptor excision circles
  14. What causes Severe combined immunodeficiency disorder?
    • Defective IL-2R gamma chain
    • Adenosine deaminase deficiency
  15. Describe the effects of the Metyrapone stimulation test.
    • 1. Metyrapone blocks cortisol synthesis by inhibiting 11-β hydroxylase, which converts 11-deoxycortisol to cortisol
    • 2. ↓Cortisol causes ↑ACTH which leads to ↑production of 11-deoxycortsiol, which is further metabolized to the liver to 17-hydroxycorticosteroids that accumulate in the urine.

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