Mixed 1 Flashcards
Recalls
Acute Synovitis
[Causes, Dx]
> Causes: septic arthritis (gonococcal, nongonococcal), crystal arthropathy (gout), hemarthrosis, rheumatic dse.
Dx: diagnostic arthrocentesis; crystal analysis, cell count, culture, gram stain; blood culture (septic arthritis).
Acute synovitis w/ fever and/or leukocytosis
why is it important?
Emergency, expedite evaluation.
Possibly due to septic arthritis – loss of joint, long-term disability.
Treacher-Collins syndrome
[Pathogenesis, SSx]
Caused by abnormal dev. of 1st and 2nd pharyngeal arches.
Craniofacial abnormalities (mandibular, maxillary, zygomatic hypoplasia).
Airway compromise (DOB), feeding difficulty.
Conductive hearing loss (abnormal ossicles).
Nicotinic acid (Niacin)
[MOA, toxicity}
Tx for what? How do you reduce SE?
Tx for hyperlipidemia (Inc. HDL, dec. LDL); Releases prostaglandins.
SE: flushing, warmth, itching.
*To reduce SE, give Aspirin about 30 mins before niacin admin (or use slow-release niacin, or take w/ food)
Anticipation
Define.
Found in what genetic conditions?
Tendency for clinical sx to worsen and/or occur earlier in subsequent generations.
Assctd w/ trinucleotide repeat d/o: Fragile X syndrome (CGG), Huntington dse (CAG), Myotonic dystrophy, Friedreich ataxia.
Genomic Imprinting
Define.
Examples.
Selective inactivation of genes of either maternal or paternal origin – gene of a chromosome is epigenetically silenced for entire life of organism, reset only during egg/sperm formation.
(Ex. Prader-Willi syndrome, Angelman syndrome)
Prader-Willi syndrome
[SSx]
Paternal chromosome has deleted regions (no expression); Maternal chromosome has imprinted genes (silenced).
Hyperphagia, obesity,
Hypotonia, hypogonadism,
Intellectual disability.
Angelman syndrome
[SSx]
Maternal chromosome has deleted regions (no expression); Paternal chromosome has imprinted regions (silenced).
Inappropriate laughter (“happy puppet”), Ataxia,
Severe intellectual disability, seizures.
How do HIV patients become resistant to HAART drugs? (2)
HIV-1 has high mutability.
Pol mutations: structural changes in HIV-1 reverse transcriptase – enzyme resistant to NRTI and NNRTI.
Pyruvate dehydrogenase deficiency.
What happens? Diet?
Pyruvate is converted to lactate by lactate dehydrogenase (instead of into acetyl-COA).
>Must give Ketogenic diet: leucine, lycine – lessens lactic acidosis.
>Glucogenic and ketogenic: phenylalanine, isoleucine, tryptophan.
Tetrahydrobiopterin (BH4) deficiency.
What is BH4? What happens in BH4 deficiency?
*BH4: cofactor for 5HT, tyrosine, DOPA (dopamine, NE, epi) synthesis.
BH4 deficiency due to dihydropteridine reductase defect – phenylketonuria – disrupted neural and glial dev – neuro deterioration.
How do gallstones become a complication of total parenteral nutrition (TPN)?
Normally, fat/amino acids in duodenum induce release of CCK – gallbladder contraction.
With TPN, there’s no enteral stimulation – dec. CCK release – biliary stasis.
Fragile X syndrome
[Px, Classic findings]
Expansion of trinucleotide repeats (CGG) in FMR1 gene.
Findings: macrocephaly, long face; large forehead, jaw, chin, ears; Macroorchidism (large testes).
Fragile X syndrome.
[Findings on Folate-deficient medium, cytogenetic studies]
> Folate-deficient medium: no stain in area of inc. repeats.
> Cytogenetic studies: gap near tip of long arm of X chromosome.
Histoplasma capsulatum
[Location, History, SSx]
Dimorphic fungus; spores found in bird and bat droppings (exploring caves, cleaning bird cages).
Endemic to Mississippi and Ohio river basins.
Affects lungs and RES – lymphadenopathy, hepatosplenomegaly.
