Quiz 46,47,48 Flashcards
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
What cell line maturation process is blocked in X-linked (Bruton) agammaglobulinemia?
B cell
What immunoglobulin(s) is/are deficient in X-linked agammaglobulinemia?
IgM, IgA, IgG
What results when the gamma chain of IL-2 receptor is absent?
SCID
What is the result of adenosine deaminase deficiency?
SCID
Tonic-clonic seizure activity produces what from skeletal muscles?
Lactic acid
What is the most common cause of peritoneal carcinomatosis?
Ovarian cancer
What is the classic auscultation of ASD?
Mid-systolic ejection murmur at the LUSB and a wide, fixed splitting of the second heart sound
What is heard on auscultation of PDA?
Machine-like murmur
What is the most common mutation worldwide for CF?
Delta F508 mutation on CFTR gene – prevents proper protein folding
What type of polyp has sawtooth glandular epithelium with proliferation of goblet and columnar epithelial cells?
Hyperplastic polyp
What does the thyroid diverticulum give rise to?
The thyroid gland
What are the muscles of facial expression developed from?
Second pharyngeal arch
What is a never event?
Shocking medical error that should never occur
What are the hormonal findings in Turner syndrome?
Increased FSH, increased LH, decreased estrogen, decreased inhibin, and normal growth hormone.
What karyotype results in Turner syndrome?
45,X
What is the chromosome site involved in FAP?
5q21 = APC gene
Is the APC gene an oncogene or tumor suppressor gene?
Tumor suppressor
What chromosome is affected in Wilms tumor?
11
What chromosome is affected in retinoblastoma? What other cancer is seen?
Chromosome 13, gene Rb; can also see osteosarcoma
What is the family and genome of the virus causing mumps?
Paramyxoviridae family; -ssRNA, helical enveloped virus
What are members of the paramyxoviridae family?
Measles, mumps, RSV, parainfluenza
What does diphtheria toxin do?
Inactivates eukaryotic elongation factor eEF-2
A rare AE of ticlopidine?
Neutropenia/agranulocytosis
What is the MOA of ticlopidine?
Inhibits ADP from binding to platelet receptors
What is the mechanism of action of clopidogrel?
Irreversibly blocks ADP from binding platelets.
What does medicare part A cover?
Hospital, nursing facility, hospice and home health care
What does medicare part B cover?
Services from physicians and other health care providers, Xrays, labs
What are allotypes? What can they be used for?
Minor amino acid differences in the constant domains of antibody molecules; dictated by genetic inheritance and can be used for paternal testing
What is Libman-Sacks endocarditis?
Small, granular vegetations on both sides of the leaflets; commonly affects aortic and mitral valve
What is the characteristic finding on biopsy of primary biliary cirrhosis?
Chronic granulomatous inflammation leading to destruction of medium-sized intrahepatic bile ducts
What antibodies are seen in primary biliary cirrhosis?
Antimitochondrial autoantibodies
What labs are elevated in primary biliary cirrhosis?
Alkaline phosphatase and conjugated bilirubin
PDSA model stands for what? What simple concept does it use?
Plan, do, study, act; “trial and error” concept
Paralysis to the genioglossus muscle results in what on physical exam?
Deviation toward side of lesion
What contains the epithelial stem cells?
The dermis skin appendages (eg hair follicles)
The heterophile antibody test is what type of assay?
Latex agglutination assay