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foundations path wks I & II Flashcards

1
Q

ehlers danlos

A

CT disorder: struc/prod/processing of collagen.
chronic pain, super flexible joints/skin, tendency to bleed/bruise
assoc w keloid formation

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2
Q

keloids

A

overgrowth of granulation tissue (collagen III) at site of healed skin injury

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3
Q

scurvy

A

vitamin c deficiency > collagen crosslinking issues

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4
Q

osteogenesis imperfecta

A

type I collagen deficiency, brittle bones prone to fractures, blue sclera, hearing deficiency (ossicles abnormal)

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5
Q

Marfan syndrome

A 
fibrillin mutation (covers elastin)
autodominant
affect skel, heart, eyes
long limbs/digits, dissecting aas, floppy valves
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6
Q

duchenne muscular dystrophy

A

dystrophin protein (struc component of muscles) deficiency
x linked genetic disorder: frameshift mut
muscle wasting
common sign “gower’s sign” - have to walk hands up own body to stand

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7
Q

hyaluronidase (cleaves hyaluronic acid)

A

hyaluronic acid = glycosaminoglycan making up ground substance of CT(holding cells together)
virulence factor in staph. aureus, strep pyogenes
in acrosome rxn in sperm to digest corona radiata

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8
Q

pemphigus vulgaris

A

desmosome jxn disruption
blistering disease
type II hypersensitivity rxn: autoimmune disease (antibodies attack desmosome jxn prots)

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9
Q

Kartagener/Primary ciliary dyskinesia/immotile ciliary syndrome

A

defects in cilia action
auto recessive
defects in: respiratory tract, middle ear, fallopian tube, sperm flagella > frequent infection
sinusitis, bronchitis, pneumonia, otitis media
situs inversus = organs on opposite sides

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10
Q

DNA del in barrier sequence of beta globin

A

barrier sequence = stops heterochromatin (tranx inactive) spread to euchromatin. if lost, beta globin gene inaccessible to tranx/transl.
result: severe anemia

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11
Q

barrett’s esophagus as a

metaplasia example

A

glandular metaplasia: squamous > glandular cells
body resp to gastroesophageal reflux disease
(goblet cells produced in resp ep)

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12
Q

barrett’s esophagus carcinoma

A

adenocarcinoma = epithelial tissue with glandular origin (subcategory of carcinoma- neoplasia of epithelial tissue)

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13
Q

teratoma

A

tumor w tissue/organ components resembling normal derivatives of more than one embryonic germ layer

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14
Q

blood testes barrier damage

A

sperm enter blood, antibodies bind antigenic sites on sperm, can hinder sperm ability to fertilize egg/motility

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15
Q

klienfelter

A

47xxy
testicular atrophy, eunuchoid body shape, dev delay
barr body x chromo present
dysgenesis of seminiferous tubules causes decr T, incr E (incr FSH, LH)

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16
Q

turner

A 
45xo
ovarian dysgenesis, webbed neck
decr E
primary cause of primary amenorrhea
no barr body
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17
Q

XYY

A

pheno normal
paternal meiosis
assoc w learning disability, autism

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18
Q

true hermaphroditism

A

46xx or 47xxy
aka ovotesticular disorder of sex dev
both ovarian and testicular tissue present = ambiguous genitalia

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19
Q

5alpha-reductase deficiency

converts T to DHT

A

auto recessive, males only
ambiguous genitalia til puberty, then: high T = incr growth of external genitalia. T/E levels normal, internal genitals normal

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20
Q

androgen insensitivity syndrome

A

normal appearance female except: scant genital hair, rudimentary vagina, no uterus/fallopian tubes
dev of testes (often in labia majora, need sx removal to prevent cancerous growth)
high T/E levels

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21
Q

hydatiform mole

A

cystic swelling of chorionic villi/prolif of chorionic epith tropho
cysts, hyperthyroidism
result of duplicated sperm DNA

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22
Q

partial hydatiform mole

A 
69xxx, 69xxy, 69xyy
slightly elevated hcg
two sperm, one egg
vaginal bleeding & pain
can visualize fetal parts
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23
Q

complete hydatiform mole

A 
46xx, 46xy
high hcg
anuclear egg + sperm (duplicates its DNA)
risk of malignant trophoblastic disease
enlarged uterus, hyperthyroidism
honeycomb/snowstorm/grapes on ultrasound
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24
Q

abrutio placentae

A

premature separation of placenta before delivery
causes: trauma, smoking, HTN, cocaine
abrupt painful bleeding, DIC, maternal shock, fetal distress (life threat to both)

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25
placenta previa
placenta covers internal os causes: multiparity, prior C section painless 3rd trimester bleed
26
placenta accreta/increta/percreta
defective attachment of placenta to uterus 1. accreta: attaches to myometrium w/o penetration 2. increta: penetrates into myomet 3. percreta: perforates through myomet and invades uterine wall causes: prior Csection, inflamm, placenta previa
27
ectopic pregnancy sites
most common: ampulla of fallopian other regions: pouch of douglas, ovary s/s: pain, w or w/o bleeding
28
polyhydramnios
too much amniotic fluid assoc w fetal malformations: esophageal/duodenal atresia, anencephaly > inability to swallow fluid assoc w mat diabetes, fetal anemia, multiple gestations
29
oligohydramnios
too little amniotic fluid placental insufficiency, bilateral renal agenesis, inability to excrete urine (males) can cause potter seq (pulmonary hypoplasia, others)
30
vasa previa
vessels over internal os can result in exsanguination/death of fetus emergency c section
31
trisomy 13/Patau syndrome
severe intellectual disability, micropthalmia, microcephaly | cleft lip/palate, polydactyly, congenital heart disease (die w/in 1 yr)
32
trisomy 18/edwards
severe intellectual disability, low ears, clenched hands w overlapping fingers, congenital heart disease (die w/in 1 yr) low a fetoprotein, hcg
33
trisomy 21/downs
intellectual disability, flat face, palmar crease, co-occurs w hirshprung=megacolon (RET loss fxn) congenital heart disease, early onset alzheimer 95% cases= maternal nondys 4% = robertsonian low afetoprot, high hcg
34
megacolon/hirschsprungs
GI autonomic ganglion cells cant fxn (neural crest cell issue) baby fails to pass 1st stool meconium RET loss of fxn
35
RET proto-oncogene
gain of fxn = medullary thyroid carcinoma (self sufficiency in growth signals) loss of fxn = hirschsprungs/megacolon
36
lesch-nyhan syndrome/juvenile gout/HGPRT enz deficiency
``` hgprt enzyme deficiency (in purine breakdown pw) causes excessive uric acid prod, de novo purine synth x link recessive HGPRT pnemonic: Hyperuricemia Gout Pissed off (aggression/self mutilation) Retardation dysTonia ```
37
sickle cell disease mutation
missense: nucleotide substitution > new aa | glu > val
38
xeroderma pigmentosum
defective nucleotide excision repair (takes out pyrimidine dimers from UV)
39
Hereditary non-polyposis colorectal cancer (HNPCC)/lynch syndrome
auto dom mutation of MSH2/MLH1: mismatch repair enzymes
40
ataxia telangiectasia
mut in enz that repairs double strand breaks neurodegenerative, genetic poor coordination & small dilated bvs incr risk of lymphoma/leukemia
41
fanconi anemia
result of mut in prots responsible for DNA repair most dev cancer, commonly: AML (acute myelogenous leukemia) 90% develop marrow failure (inability to dev blood cells) by age 40
42
AML (acute myelogenous leukemia)
1. fanconi anemia (mut in DNA repair prots > marrow failure by age 40) 2. translocation(15:17) 3. Downs syndrome 10-18x more likely to get AML
43
menkes disease
x linked recessive impaired copper abs/transp brittle, kinky hair, growth retardation, hypotonia
44
prader willi | chromo 15 mut/del
Praderwilli = Paternal deletion, maternal imprint | hyperphagia/obesity, intellectual disability, hypogonadism/hypotonia
45
angelman "happy puppet" | chromo 15 mut/del
"happy puppet" angelMan = Maternal del, paternal imprint seizures, inappropriate laughing, severe intelectual disability
46
Li Fraumeni/SBLA cancer syndrome
p53 mutation > multiple malignancies early in life SLBA = sarcoma, breast, leuk, adrenal gland auto dom
47
familial adenomatous polyposis (FAP)
``` colon covered w polyps post puberty, progresses to cancer unless colon resected APC gene (chromo 5) auto dom ```
48
multiple endocrine neoplasias (MEN)
MEN genes: familial endocrine gland tumors (pancreas, thyroid, pituitary, parathyroid, adrenal medulla) also RET gene loss of fxn > megacolon (a MEN neoplasia) auto dom
49
von hippel-lidau disease
``` VHL gene (tumor suppressor) auto dom (chromo 3) many tumors, both malig/benign ```
50
cri-du-chat
high pitched cry/mew, severe intellectual disability, cardiac abnormalities chromo 5
51
digeorge syndrome
``` thymic, parathyroid, cardiac defects chromo 22 del: aberrant dev of 3rd/4th brachial pouches > thymic aplasia > T-cell deficiency, hypocalcemia "CATCH 22" Cleft palate Abnormal facies Thymic aplasia/ Tcell def Cardiac defect Hypocalcemia ```
52
beriberi
beriberi = vit b1 deficiency (alcoholics run out of b1)
53
wernicke's encephalopathy | wernicke-kosakoff syndrome
``` wernicke's = lesions on CNS after exhaustions of vit b1 reserves (other b vits too) s/s: confusion, ataxia kosakoff = other s/s: memory loss, blackout, apathy ```
54
chronic alcoholism and hypoglycemia, fatty liver mechanisms
alc > incr NADH in liver > body thinks high energy state, diverts away from gluconeogenesis > hypoglycemia use fat as fuel > hyperlipidemia, fatty liver
55
iron deficiency anemia ETC
decr Fe for Fe-S centers and cytochromes = decr production of E
56
Leber's disease/leber hereditary optic neuropathy (LHON)
decr mito capacity for oxphos bilateral loss of central vision (neuro retinal degeneration, optic nerve damage) sudden onset blindness in early adulthood need high % mito DNA w mutation to show s/s (severity varies)
57
leigh's disease/juvenile subacute necrotizing encephalopathy
decr mito capacity for oxphos neurometabolic disorder s/s w/in 1st year of life (seizure, lactic acidosis, ragged red fibers in musc), death by 5-7 yrs
58
CN cyanide/CO carbon monoxide ETC
inhibit e transfer from subunit IV to o2 | also CO binds rbcs
59
dinitrophenol ETC
uncoupler (faciliates p+ transfer across inner mito mem) | weight loss drug, deaths from overheating/lack of E
60
valinomycin ETC
uncoupler: K+ ionophore activated
61
oligomycin ETC
inhibits p+ flow through ATP synthase
62
fomepizole (alc)
antidote for methanol/ethylene glycol poisoning inhibits alc dehydrogenase
63
disulfiram/some cephalosporins (antibac)
contributes to hangover s/s, alc intolerance inhib acetaldehyde dehydrogenase (last step in alc metab pw)
64
pyruvate dehydrogenase complex deficiency
buildup of pyruvate > shunted to lactate, alanine | lactic acidosis, incr alanine
65
rotenone, amytal ETC
inhib complex I ETC
66
antimycin ETC
inhib complex II
67
creatine kinase, troponin in blood test
elevated = irreversible cardiac damage, MI
68
ALT (alanine aminotransferase) | AST (aspartate aminotransferase)
elevated = irreversible liver damage
69
amylase, lipase in blood test
``` elevated = pancreatic damage amylase = salivary inflammation also ```
70
coagulative necrosis
``` hypoxic injury (except in brain = liquefactive) tissue = pale, firm, hyperemia (vascular dilation) surrounding white areas dry gangrene = coagulative subcategory ```
71
liquefactive necrosis
``` assoc w bacterial/fungal infection (wet gangrene also!!) rate of cell destruction dominates (enz digestion) yellow creamy absesses, pus hypoxic CNS necrosis = liquefactive ```
72
gangrenous necrosis: wet vs dry
``` wet = liquefactive (bac infection) dry = coagulative (hypoxia) ```
73
caseous necrosis
TB infection | white, cheesy
74
enzymatic/fat necrosis
fat destruction (typically pancreatic lipase released) saponification dystrophic calcification - if necrotic debris are not destroyed, become calcified
75
fibrinoid necrosis
bvs in immune rxn: immune complexes deposited in walls of arteries (type III hs rxn) pink, amorphous appearance
76
graft vs host disease
graft marrow for immune compromised pts: marrow makes cells that recog host as foreign , attack host
77
meckel's diverticulum
remnant of vitelline duct 2'' long, 2' from ileocecal valve, 2% pop congenital anomaly in GI (most common!)
78
atheroma
accumulation of degenerative material in the tunica intima (macros, debris, lipids: chol, FAs, Ca2+, fibrous CT) response to continuous injury
79
rheumatic fever | s pyogenes
``` JONES: 'john travolta in saturday night rheumatic fever' joint pain carditis nodules (subqt) erythema syndenham chorea ```

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