D 115 Advanced Pathophysiology
Tuberous Sclerosis Complex - ANS-Autosomal dominant, may involve chromosome 9 or 16,
epilepsy, adenoma sabaceum, behavior and developmental problems, tubers, subependymal
nodules, giant cell astrocytomas
MHC - ANS-Major Histocompatibilty Complex, processes and presents antigens
subconjunctival hemorrhage - ANS-Blood in the eye, resolves like a bruise
pterygium - ANS-Surfer's Eye, triangle of conjunctiva. Drops if inflamed, surgery if blocking
vision, sunglasses in all cases.
Pinguecula - ANS-a harmless yellowish triangular nodule in the bulbar conjunctiva on either side
of the iris that stops at the limbus, from too much sun
chalazion - ANS-Inflamed meibomian (eye sweat) gland, I&D if large
hordeolum - ANS-Stye
Herpes Keratitis - ANS-Fern-like damage pattern, like corneal abrasion. Permanent damage.
Rinne test - ANS-bone conduction vs air conduction
Weber test - ANS-tuning fork unicorn
cheilosis - ANS-Cracks in the corners of the mouth, from drool (dentures, paci)
Hairy Leukoplakia - ANS-EBV glossitis; pre-AIDS defining lesion; not precursor to cancer
Koplik spots - ANS-Measles in the mouth
torus palatinus - ANS-benign bony ridge running in the middle of the hard palate
Avulsed tooth - ANS-Put in cool milk
Triploidy - ANS-3 of all chromosomes; normal in some cells, miscarriage if present in all cells
Trisomy 21 - ANS-Down syndrome
Trisomy X - ANS-Mostly normal, may have repro difficulties and mild mental impairment
, Turner Syndrome - ANS-No Y chromosome, only one X, short, no ovaries, aortic coarctation,
neck webbing. Treat with E.
Klinefelter syndrome - ANS-XXY, androgynous traits
Cri du chat syndrome - ANS-A deletion of the short arm of chromosome 5 associated with an
array of congenital malformations, the most characteristic of which is an infant cry that
resembles a meowing cat; microcephaly, heart defects
chromosomal inversion - ANS-When part of the chromosome becomes oriented in the reverse
of its usual direction; usually normal in the parent but causes severe defect in children
Robertsonian translocation - ANS-Translocation in which the long arms of two acrocentric
chromosomes become joined to a common centromere, resulting in a chromosome with two
long arms and a deletion. Causes deletions/functional trisomies in offspring
Fragile X Syndrome - ANS->200 CGG sequences in the first X exon; causes intellectual
disability
Achondroplasia - ANS-A form of human dwarfism caused by a single dominant allele; the
homozygous condition is lethal
Retinoblastoma - ANS-Autosomal dominant, ~90% penetrance, congenital eye cancer
Huntington's disease - ANS-Autosomal dominant adult onset dementia and chorea
von Recklinghausen disease - ANS-Neurofibromatosis 1, autosomal dominant, varied
expressivity: cafe au lait spots up through tumors
cystic fibrosis - ANS-Autosomal recessive; chloride channel defect leads to sticky mucus. 1/25
white people is a carrier.
Barr bodies - ANS-mostly inactivated X chromosomes, usually all but one (so none in XY, one in
XX, two in XXX); coin flip cell by cell. 15% genes still active
Map unit - ANS-1% recombination rate; a distance of approx. 1 million base pairs
AAT deficiency - ANS-Alpha1 antitrypsin deficiency--AAT binds to neutrophil elastase to prevent
inflammatory damage to lung tissue. Mutant AAT accumulates in liver. Autosomal recessive
disorder. Accelerates emphysema in smokers/lung irritants.
Prader-Willi Syndrome - ANS-A paternal chromosome 15 deletion syndrome (maternal copy
imprinted): short, fat, small hands/feet, mild intellectual disability.
Tuberous Sclerosis Complex - ANS-Autosomal dominant, may involve chromosome 9 or 16,
epilepsy, adenoma sabaceum, behavior and developmental problems, tubers, subependymal
nodules, giant cell astrocytomas
MHC - ANS-Major Histocompatibilty Complex, processes and presents antigens
subconjunctival hemorrhage - ANS-Blood in the eye, resolves like a bruise
pterygium - ANS-Surfer's Eye, triangle of conjunctiva. Drops if inflamed, surgery if blocking
vision, sunglasses in all cases.
Pinguecula - ANS-a harmless yellowish triangular nodule in the bulbar conjunctiva on either side
of the iris that stops at the limbus, from too much sun
chalazion - ANS-Inflamed meibomian (eye sweat) gland, I&D if large
hordeolum - ANS-Stye
Herpes Keratitis - ANS-Fern-like damage pattern, like corneal abrasion. Permanent damage.
Rinne test - ANS-bone conduction vs air conduction
Weber test - ANS-tuning fork unicorn
cheilosis - ANS-Cracks in the corners of the mouth, from drool (dentures, paci)
Hairy Leukoplakia - ANS-EBV glossitis; pre-AIDS defining lesion; not precursor to cancer
Koplik spots - ANS-Measles in the mouth
torus palatinus - ANS-benign bony ridge running in the middle of the hard palate
Avulsed tooth - ANS-Put in cool milk
Triploidy - ANS-3 of all chromosomes; normal in some cells, miscarriage if present in all cells
Trisomy 21 - ANS-Down syndrome
Trisomy X - ANS-Mostly normal, may have repro difficulties and mild mental impairment
, Turner Syndrome - ANS-No Y chromosome, only one X, short, no ovaries, aortic coarctation,
neck webbing. Treat with E.
Klinefelter syndrome - ANS-XXY, androgynous traits
Cri du chat syndrome - ANS-A deletion of the short arm of chromosome 5 associated with an
array of congenital malformations, the most characteristic of which is an infant cry that
resembles a meowing cat; microcephaly, heart defects
chromosomal inversion - ANS-When part of the chromosome becomes oriented in the reverse
of its usual direction; usually normal in the parent but causes severe defect in children
Robertsonian translocation - ANS-Translocation in which the long arms of two acrocentric
chromosomes become joined to a common centromere, resulting in a chromosome with two
long arms and a deletion. Causes deletions/functional trisomies in offspring
Fragile X Syndrome - ANS->200 CGG sequences in the first X exon; causes intellectual
disability
Achondroplasia - ANS-A form of human dwarfism caused by a single dominant allele; the
homozygous condition is lethal
Retinoblastoma - ANS-Autosomal dominant, ~90% penetrance, congenital eye cancer
Huntington's disease - ANS-Autosomal dominant adult onset dementia and chorea
von Recklinghausen disease - ANS-Neurofibromatosis 1, autosomal dominant, varied
expressivity: cafe au lait spots up through tumors
cystic fibrosis - ANS-Autosomal recessive; chloride channel defect leads to sticky mucus. 1/25
white people is a carrier.
Barr bodies - ANS-mostly inactivated X chromosomes, usually all but one (so none in XY, one in
XX, two in XXX); coin flip cell by cell. 15% genes still active
Map unit - ANS-1% recombination rate; a distance of approx. 1 million base pairs
AAT deficiency - ANS-Alpha1 antitrypsin deficiency--AAT binds to neutrophil elastase to prevent
inflammatory damage to lung tissue. Mutant AAT accumulates in liver. Autosomal recessive
disorder. Accelerates emphysema in smokers/lung irritants.
Prader-Willi Syndrome - ANS-A paternal chromosome 15 deletion syndrome (maternal copy
imprinted): short, fat, small hands/feet, mild intellectual disability.
