Quiz 46,47,48 Flashcards
(150 cards)
How does one acquire brucellosis?
Drinking contaminated milk or coming in contact with infected livestock
What is fancisella tularensis?
Gram negative coccobacillus
What is the disease presentation of ulceroglandular tularemia?
Rupturing pustule followed by an ulcer with involvement of regional lymph nodes
How does one acquire ulcerglandular tularemia?
Handing rabbits, deer or their skins, or from tick bites that fed on the rabbits or deer.
What is the geographic location of fancisella tularensis? What is the treatment?
Arkansas/Missouri; treat with stretomycin
What is the inheritance pattern of Friedreich ataxia?
Autosomal recessive, resulting in trinucleotide repeat expansion.
Why is CN II susceptible to MS?
Myelinated by oligodendrocytes
What is the inheritance pattern of Fragile X syndrome?
X-linked dominant – resulting in trinucelotide repeat of CGG
What physical features are seen in Fragile X syndrome?
Long and narrow face with prominent forehead and chin, large ears, testicular enlargement.
What are affected by prevalence?
PPV and NPV
Decline in prevalence affects negative predictive value by…
Increasing the NPV
CDKN2A loss of function mutation results in what?
Melanoma
What is the intracellular form on chlamydiae? Extracellular form?
Reticulate bodies = intracellular; elementary bodies = extracellular
What chromosomal abnormality causes cri-du-chat syndrome?
Deletion of the short arm of chromosome 5 (5p-)
What cardiac defect is seen in Cri-du-chat?
Ventricular septal defect
What is seen on gross examination of the liver in focal nodular hyperplasia?
Central scar
What population is at risk for focal nodular hyperplasia?
Women taking OCPs or exogenous hormones.
What is the inheritance pattern of MCAD?
Autosomal recessive
What deficiency causes accumulation of C8-C10 acylcarnitines?
MCAD
Why is hyperammonemia seen in MCAD?
Body relies on proteolysis, which requires the urea cycle to breakdown ammonia
Why is there hypoglycemia in MCAD?
Decreased gluconeogenesis due to decreased NADH and ATP and decreased acetyl-CoA
MCAD deficiency results in what type of fasting metabolic deficiencies?
Hypoglycemic hypoketonic
Perfusion to the aorta distal to the coarctation is maintained via collateral flow through what arteries?
Internal thoracic (mammary) arteries which give rise to the anterior intercostal arteries
What is the cause of X-linked Bruton agammaglobulinemia?
Mutation in the cytoplasmic tyrosine kinase