3/24 - UW 22 Flashcards
(41 cards)
What is the genetic abnormality and inheritance of Lynch syndrome?
AD abnormal nucleotide mismatch repair
Mutations in what two genes lead to 90% of Lynch syndrome cases?
MSH2 and MLH1
What type of TB infx is indicated by hemoptysis, weight loss, and upper lobe cavitary lesion?
Secondary (reactivation) TB infx
Where does a primary TB infx tend to present?
Focal lesions in the mid to lower lungs (Ghon focus)
In TB, what is a Ghon complex? A Ranke complex?
Ghon: walled off focus formed during primary TB in the mid/lower lungs, can reinfect
Ranke complex: Benign, calcified lesion, cannot reinfect
In addition to a sweat chloride test, what other test can be used to diagnose CF? How does it work?
Nasal transepithelial potential measures the negative epithelial surface charge of CF patients, due to decreased Cl- secretion by CFTR channel, leading to increased Na+ absorption
What neoplasm presents with necrolytic migratory erythema, DM, and anemia?
Glucagonoma
Deficiency of what mineral leads to erythematous skin lesions, hypogonadism, azoospermia, hair loss, impaired taste, night blindness, and impaired wound healing?
Zinc
What molecules to integrins interact with in cellular adhesion?
Fibronectins, collagen, laminin
What neoplasms present with von Hippel-Lindau disease?
- Cerebellar hemangioblastomas
- Clear cell renal carcinomas
- Pheochromocytomas
What chromosome is associated with VHL?
Chromosome 3
Where does rT3 come from?
Inactive thyroid hormone generated by conversion from T4
What is dry Age-related Macular Degeneration (dry AMD)?
Subretinal drusen (yellow/white) deposits or pigment changes, causing gradual vision loss in one or both eyes. Tx with antioxidants and Zn
What is wet Age-related Macular Degeneration (wet AMD)?
Abnormal blood vessels (neovascularization) with subretinal fluid/hemorrhage or gray membrane. It’s more common than dry AMD, acute vision loss in days to weeks. Tx with anti-VEGF
What factor causes retinal neovascularization in wet AMD?
VEGF
What cofactor is required by phenylalanine hydroxylase?
BH4
What bacteria has polar granules that stain with aniline dyes? (like methylene blue)
Corynebacterium diphtheriae
What cause of mental retardation shows CGG repeats?
Fragile X syndrome
What is a normal number of CGG repeats on the X chromoxomal FMR1 gene?
5-55
How many FMR-1 CGG repeats are in individuals with “full mutation” Fragile X syndrome?
200+
Hypermethylation of the FMR1 gene is seen in what disease?
Fragile X syndrome
Golden yellow or brown cytoplasmic granules could be what?
Lipfuscin or hemosiderin
What is Prussian blue stain?
Detects intracellular iron
What stain differentiates between two possible types of yellow/brown cytoplasmic granules?
Prussian blue stain for intracellular iron
