3/24 - UW 22 Flashcards
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
What pathology is associated with hemosiderin laden macrophages in alveoli?
Left sided heart failure
What nerve mediates the gag reflex?
Glossopharyngeal
Painless lesions progressing to painful inguinal LAD and ulceration = ???
Chlamydia (serotypes L1-3) causing Lymphogranuloma Venereum
What second messenger system does Insulin use?
Tyrosine kinase
What second messenger system does PDGF use?
Tyrosine kinase
What second messenger system does sildenafil use?
cGMP
What second messenger system does NO use?
cGMP
How does Leptin decrease food intake?
In the arcuate nucleus of the hypothalamus:
- Decrease production of appetite stimulate, neuropeptide Y
- Increase production of proopiomelanocortin (POMC), which forms alpha-MSH, which inhibits feeding
What combination of angina medications must be closely monitored for combined bradycardia and hypotention?
Beta blocker and non-DHP CCB
How to differentiate between PSGN and IgA nephropathy?
Hematuria post infection…
days ago = IgA nephropathy
weeks ago = PSGN
When giving glucose to alcoholics, supplement with what?
Thiamine
What type of inguinal hernia is more common old men?
Direct
What type of inguinal hernia is more common in male infants?
Indirect
What type of groin hernia is more common in women?
Femoral
What makes an H. influenzae strain “nontypable”?
No capsule
What type of H. influenzae can be vaccinated against?
type b
Sympathetic innervation of what two organs differ from the typical NE post-ganglionic release?
Sweat glands: ACh-M
Adrenals: ACh-N
