GENETICS/GENES Flashcards by Alexis McKay

AD
CAG Trinucleotide repeat
HTT gene on Chrom 4
athetosis (shaking wrist/hands), chorea, dementia

Huntington’s disease- GABA neuron deficiency in caudate nucleus of BG

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ATP7B gene
copper (Cu2+) accumulation in brain, kidneys, liver, eye (kayser-fleischer ring)
-DEFECT IN EXRCRETION OF COPPER INTO BILE

Wilson’s disease

*TOTAL COPPER levels are DECREASED
*CERULOPLASMIN DECREASE

*FREE COPPER LEVELS ARE INCREASED!!!

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Prion disease
abnormal folding proteins in B pleated sheets
rapidly progressing dementia
ataxic
myoclonic

Creutzfeldt-Jakob disease

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what is the pathogenesis of Lewy body dementia?
(visual hallucinations, parkinsonism, fluctuating consciousness, REM sleep disorder)

-Alpha -synuclein aggregates (lewy bodies)

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what is the pathogenesis of Wenicke encephalopathy/Korsakoff syndrome?
Chronic alcohol abuse
W: ataxia, horizontal nystagmus, lateral rectus palsy, confusion
K: severe memory impairment, retrograde/anterograde, confabulation

-atrophy of mammillary bodies

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what is the path of MS?
(visual disturb, ataxia, GI/urinary probs, weakness, sens/neuro probs)

-AI destruction of myelin and oligodendrocytes

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what disease is excessive daytime sleepy, cataplexy, hallucinations, sleep paralysis with decreased orexins (hypocretins) in lateral hypothalamus?

Narcolepsy

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AR
disease with absent DNA repair enzymes and increased incidence of UVB related skin cancers

Xeroderma pigmentosum

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MC vitamin def in alcoholics?

folate

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MC metal def in alcoholics?

magnesium

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what vitamin is associated with pyruvate dehydrogenase?

thiamin

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what happens to the other kidney if one is damaged?

it undergoes hypertrophy

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what vit toxicity decreases the levels of Vit k factors, increases incidence of hemorrhagic strokes, and potentiates the action of warfarin?

Vitamin E

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carboxylase reaction in conversion of pyruvate –> oxaloacetate?

Biotin reaction

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-Cherry red macula

Tay Sachs disease

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transamination reactions involving transaminases AST and ALT?

pyridoxine B6

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what inhibits ADH release, ATII effect on stimulating thirst, aldosterone secretion, renal absorption of Na (direct effect, Na loss in urine), inhibits renal release, and vasodilator the peripheral resistance vessels?

Atrial Natriuretic Peptide (ANP)

**complete opposite of Angiotensin II

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what is the chance of a male with cystic fibrosis to have a child?

less than 5%, since vas deferent never fully develop/are atretic

-females with CF can get pregnant but it is difficult w the thick cervical mucus

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what are the vitamin supplements in CF?

all of the fat soluble vitamins (A, D, E, K)

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Woman is a pure vegan, is breastfeeding her baby, and baby develops anemia?

B12 deficiency

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-attaches to CD21 molecule in B cells

Ebstein Barr Virus

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what syndrome is hypogonadism, mental retardation, and unilateral gynecomastia?

Klinefelter syndrome (XXY)

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what syndrome is hypogonadism, absent GnRH, smell problems (anosmia), and color blindness?

Kallman syndrome (hypogonadotrophic hypogonadism)

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what syndrome is hypogonadism, mental retardation, retinas pigmentosum?

Lawrence Moon Biedl syndrome

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what syndrome is AD PTPN11 gene problem in RAS-MAPK pathway, hypogonadism, mental retardation, short stature, webbed neck?

Noonan syndrome

what syndrome is Chrom 15 MICROdeletion of paternal origin, hypogonadism, mental retardation, short stature, obesity

Prader-Willi (angelman is deletion of a maternal origin)

patient with neurofibromatosis has severe diastolic hypertension?

probable pheochromocytoma

complications of cyclophosphamide?

hemorrhagic cystitis and transitional carcinoma of the bladder

*employees working in car assembly plant w HA/N/V, muscle weakness, abd cramps **or people making moonshine in an old car radiator

Lead poisoning from incineration of batteries

what syndrome is a newborn female that has edema of hands/feet, cystic mass in neck, with 45 XO karyotype?

Turners syndrome

what vitamin is absent in colostrum (baby first milk)

Vitamin D

low in folate, B6, iron high in potassium, chloride, arach acids, linoleum acids

Baby getting anemia from switching from cows milk --> goats milk

retinal hemorrhages in young children?

possible child abuse--> shaking syndrome

what bite is multiple wheals that later develop into vesicles/pustules?

Fire ant bites

what bite is PAINFUL, followed by crampy pain in thighs/abdomen ? **carrying logs from outside, moving boxes in basement

Black widow bite

what is PAINFUL STING, followed by local itching, paresthesias, N/V, HTN?

poisonous type of scorpion bite in southwest

what bite is PAIN-LESS beginning with slightly tender red papular lesion on arm that later form a hemorrhagic blister with purpura?

Brown recluse spider bite

what bites are extremely itchy, bright red papules on legs and around waist?

Chigger bites

what disease is more likely to infect the fetus after the first trimester?

Syphilis

THC metabolites in urine after dying in accident?

delayed reaction time, impairs the persons ability to judge speed and distance

What is caused by vinyl chloride, arsenic, and thorotrast?

Angiosarcoma of the liver

Female pseudohermaphrodite with ^ ACTH, ^ urine 17-ketosteroids, LOW cortisol, LOW urine 17-hydroxycorticoids

21-hydroxylase deficiency

Female pseudohermaphrodite with ^ ACTH, ^ urine 17-ketosteroids, ^ 17-hydroxycorticoids, LOW cortisol

11-hydroxylase deficiency

MALE pseudohermaphrodite with ^ ACTH, LOW urine 17-ketosteroids, LOW urine 17-hydroxycorticoids, LOW cortisol

17-hydroxylase deficiency

what syndrome has LOW AFP?

downs syndrome

what tumor marker leads to hepatocellular carcinoma, germ cell tumors (yolk sac), testicular/ovarian cancer?

AFP/AAT

what tumor marker leads to multiple myeloma, light chains in urine (BJ protein)?

B2-microglobulin

what tumor marker leads to small cell carcinoma of lung, neuroblastoma?

Bombesin

what tumor marker leads to breast cancer?

CA 15-3

what tumor marker leads to pancreatic cancer?

CA 19-9

what tumor marker leads to ovarian cancer?

CA 125

what tumor marker leads to colorectal, pancreatic, breast, Small cell canc of lung, and BAD prognostic sign if elevated peroperatively?

CEA

what tumor/disease is assoc with oncogenic RNA virus HTLV-1?

Adult T Cell Leukemia/Lymphoma

what tumor/disease is assoc with oncogenic RNA virus HTLV-2?

Hairy Cell Leukemia

what tumor/dz is assoc with oncogenic RNA virus HCV and oncogenic DNA virus HBV?

hepatocellular carcinoma

what tumor/dz is assoc with oncogenic DNA virus EBV?

Burkitt's, nasopharyngeal carc, polyclonal malignant lymphoma

what tumor/dz is assoc with oncogenic DNA virus HPV?

SCC of cervix, vag, vulva, anus

what tumor/dz is assoc with oncogenic DNA virus HSV8?

Kaposi's sarcoma

-zebra bodies in lysosomes

Niemann pick disease

what disease is DEC protein intake but NORMAL total caloric intake, fatty liver from dec apolipoproteins, pitting edema, flaky pain dermatitis?

Kwashiorkor

what disease is decreased total caloric intake, loss of muscle mass?

marasmus

Craniotabes, rachitic rosary, increase in unmineralized osteoid

Rickets

gene products E6 and E7 in HPV infections inhibit what gene leading to cancer?

P53 suppressor gene

what metalloenzyme aids tumor invasion of tissue?

collagenase with Zn as a cofactor

-X linked most common genetic cause of mental retardation in males, triplet repeat, macroorchidism at puberty

Fragile X

what is the gene mutation in Cri du chat? -mental retardation, cry like a cat, relation with VSD

deletion of short arm on chromosome 5

AD fibrillin defect in elastic tissue MVP with sudden death dissection is MCC of death dislocated lens

Marfan's syndrome

NF 1/2, AD brain tumors: meningioma, acoustic neuroma, pheochromocytoma Cafe au lait spots, Lisch nodules (hamartomas in iris)

Neurofibromatosis

AD cerebellar hemangioblastomas acoustic neuroma pheochromocytoma renal adenocarcinoma

Von hippel Lindau

Burkitts lymphoma is what translocation

t8:14

Chronic myelogenous leukemia is what translocation

t9:22

follicular B cell lymphoma is what translocation

bcl-2 t14:18

what renal acidosis is: Normal AG metabolic acidosis Aldosterone mediated proton pump in CD is dysfunctional -cant secrete H, regenerate bicarb, urine >5.5

Type 1 Renal tubular acidosis (distal)

what renal acidosis is: Normal AG metabolic acidosis -lower the threshold for bicarb, initially urine ph >5.5, and then when equilibrium is reached, urine ph <5.5

Type 2 Renal Tubular acidosis (proximal)

what is the best initial screen for temporal arteritis?

ESR

benign adenoma in zona glomerulosa -LOW renin HTN -LOW (severe) hypokalemia -normal to increased serum Na -no pitting edema -muscle weakness, U waves -Metabolic alkalosis

Primary Aldosteronism (conn)

Increase PaCO2 Decrease PaO2 and SaO2

Respiratory Acidosis

Normal PaO2 and SaO2 Decreased Hb concentration

Anemia

what causes Pneumococcus infection in HbSS?

autosplenectomy/ or functional asplenia

What vessels are involved in esophageal varices?

Left gastric vein Azygous vein

How to DX rotavirus?

Rotazyme test of stool ELISA test with Antibodies against virus

Tx of astrocytoma?

Radiation

when you remove the ovaries or testes, what enzymes are increased?

FSH and LH

Hypernatremia very dilute urine thirsty, polyuria *CDI IS CORRECTED WITH VASOPRESSIN *NDI NOT CORRECTED WITH VASOPRESSIN

diabetes insipidus

MCC of rabies in USA

skunk bites

osteophytes in DIP joints in OA are called

Heberden's nodes

flask shaped ulcers in the cecum

Amebiasis

Anti-pulmonary antibodies Anti-glomerular capillary BM antib -begins with hemoptysis, ends with renal failure **CRESCENTIC GLOMERULONEPHRITIS *linear immunofluorescence

Goodpastures syndrome

MCC of post transfusion hepatitis

HCV

MCC of septic arthritis

N. gonorrhea, knees/wrist/feet

Rust colored sputum

S. pneumo

MC cyanotic CHD *degree of infravalvular pulmonary stenosis is key to whether patient has cyanosis/acyanotic

Tetralogy of fallot

abdominal abscess MC due to

B. fragilis below diaphragm B. melanogenicus above diaphragm

AD mental retardation, astrocyte hamartomas in CNS *candlestick drippings on ventricles -adenoma sebaceous, angiomyolipoma of kidneys, rhabdomyoma of heart

Tuberous Sclerosis

Protein A attaches to Fc receptor of Macrophages, blocks opsonization of bacteria

Staph Aureus

AD -INC ALA synthase when heme is decreased -decreased activity of uroporphyrinogen synthase -INC IN S -AMINOVULIN. ACID, PORPHOBILINOGEN, PSYCHOSIS, COLICKY ABD PAIN (frequently mistaken for surgical emergency- "belly full of scars")

Acute intermittent Porphyria (AIP)

acquired disease decreased activity of uroporphyrinogen DECARBOXYLASE -INC excretion of UROPORPHYRIN I -normal porphobilinogen levels -photosens skin lesions in sun exposed areas -hyperpigmentation, fragile skin -inc vellus hair (hypertrichosis)

Porphyria Cutanea Tarda (PCT)

-pharygitis predisposes to RF -skin infections predispose to glomerulonephritis what bacteria?

S. Pyogenes (GAS)

upper urinary tract infection in females with a vesicoureteral reflux

Acute pyelonephritis

resting tremor

parkinsons disease

intention tremor

multiple sclerosis

same as ALS destruction of upper and lower motor neurons -defective superoxide dismutase -neuron damage by superoxide free radicals -intrinsic muscles of hand is common starting point

Lou Gehrig's disease

MCC of CHD in downs syndrome

Endocaridal cushion defect (ASD + VSD) *alzheimers mc death after age 35 in downs

AD berry aneurysm relationship and subarachnoid hemorrhage -cysts not present at birth -HTN

adult polycystic kidney disease

HLA B27 positive *young man with low back pain progressing to bamboo spine, aoritits/uveitits (other relationships- Reiter's syndrome, psoriasis, Enterocolitis, UC

Anklyosing Spondylitis

chrom 22 with bcr:abl fusion Chronic myelogenous leukemia

Philadelphia chromosome

cause of familial hypercholesterolemia

AD disease with absent LDL receptor

what is the defect in B chain in sickle cell trait/disease?

Valine for Glutamic Acid in 6th position of B chain

pathognomic lesion of rheumatic fever

Aschoff body

rheumatoid arthritis will have what positive tests

rheumatoid factor, anti cyclic citrulinated peptide ab

dermatomyositis/polymyositis will have what positive tests

anti nuclear ab, anti Jo 1 ab

diffuse systemic sclerosis will have what positive tests

anti nuclear ab, antitopisosmerase I (Scl-70 ab)

sjogren syndrome will have what positive tests

anti nuclear ab, anti SSA/Ro, anti SSB/La ab

SLE will have what positive tests

antinuclear ab anti DS-DNA ab anti Smith Ab