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35 Cards in this Set

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Collagen Type I (90%):
Bone, Skin, Tendon, dentin, fascia, cornew, late wound repair
Collagen Type II:
Cartilage (including hyaline), vitreous body, nucleus pulposus
Collagen Type III (Reticulin):
skin, blood vessels, uterus, fetal tissue, granulation tissue
Collagen Type IV:
Basement membrane or basal lamina
Vimentin:
connective tissue
Desmin:
Muscle
Cytokeratin:
Epithelial cells
Clial fibrillary acid proteins (GFAP):
Neuroglia - astrocytes
Neurofilaments:
Neurons
Von Gierke's Disese (Type I):
(severe fasting hypoglycemia, double increase glycogen in liver, increase blood lactate, hepatomegaly). Glucose-6-phosphatase
Pompe's Disease (Type II):
(Cardiomegaly and systemic findings leading to early death). Lysosomal a-1,4-glucosidase (acid maltase)
Cori's Disease (Type III):
(Milder form of Type I with normal blood lactate levels). Debranching enzyme a-1,6-glucosidase
McArdle's disease (Type V):
increase glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise). Skeletal muscle glycogen phosphorylase (myophosphorylase)
Sphingoliposes Frabry's Disease (XR):
(Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease). a-galactosidase A, Ceramide trihexoside.
Gaucher's disease (most common):
(Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages)). B-glucocerebrosidase, Glucocerebroside
Niemann-Pick disease:
(Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot (on macula)). Sphingomyelinase, Sphingomyelin
Tay-Sachs disease:
(Progressive neurodegeneration, developmental delay, no hepatosplenomegaly, cherry-red spot, lysozymes with onion skin). Hexosaminidase A, GM2 ganglioside
Krabbe's disease:
(Peripheral neuropathy, developmental delay, optic atrophy). B-galactosidase, Galactocerebroside
Metachromatic leukodystrophy:
(Central and peripheral demyelination with ataxia, dementia). Arylsulfatase A, Cerebroside sulfate
Mucopolysaccharidoses Hurler's Syndrome:
(Developmental delay, gargolylism, airway obstruction, corneal clouding, hepatosplenomegaly). a-L-iduronidase, Heparan sulfate, dermatan sulfate
Hunter's syndrome (XR):
(Mild Hurler's + aggressive behavior, no corneal clouding). Iduronate sulfatase, Heparan sulfate, dermatan sulfate
Lead poisoning:
Herrochelatase and ALA dehydrase. Coproporhyrin and ALA
Acute intermittent porphyria:
Uroporphyrinogen I synthase. Porphobilinogen and S-ALA
Porphyria cutanea tarda:
Uroporphyrinogen decarboxylase. Uroporphyrin (tea-colored)
Adult polycystic kidney disease:
Always bilateral, massive enlargement of kidneys due to multiple large cysts. Patients present with pain, hematuria, hypertension, progressive renal failure. 90% of cases are due to mutation in APKD1 (chromosome 16). Associated with polycystic liver diesease, berry aneurysms, mitral valve prolapse. Juvenile form is recessive.
Familial hypercholesterolemia (hyperlipidemia type IIA):
Elevated LDL owing to defective or absent LDL receptor. Heterozygotes (1:500) have cholesterol = 300 mg/dL. Homozygotes (very rare) have cholesterol = 700+ mg/dL, severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon); MI may develop before age 20.
Marfan's syndrome:
Fibrillin gene mutation leads to connective tissue disorders. Skeletal abnormalities--tall with long extremeties (arachnodactyly), pectus excavatum, hyperextensive joints, and long, tapering fingers and toes. Cardiovascular--cystic medial necrosis of aorta which leads to aortic incompetence and dissecting aortic aneurysms. Floppy mitral valve. Ocular--subluxation of lenses.
Neurofibromatosis type I (von recklinghausen's disease):
Findings: cafe-au-lait spots, neural tumors, Lisch nodules (pigmented iris hamartomas). Also marked by skeletal disorders (e.g. scoliosis), optic pathway gliomas, pheochromocytoma, and increased tumor susceptibility. On long arm of chromosome 17;17 letters in von Recklinghausen
Neurofibromatosis type 2:
Bilateral acoustic neuroma, juvenile cataracts. NF2 gene on chromosome 22; type 2 = 22.
Tuberous sclerosis:
Findings: facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. Incomplete penetrance, variable presentation
Von Hippel-Lindau disease:
Findings: hemangioblastomas of retina/cerebellum/medulla; about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors. Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p). Von Hippel-Lindau = 3 words for chromosome 3.
Huntington's disease:
Findings: depression, progressive dementia, choreiform movements, caudate atrophy, and decreased levels of GABA and ACh in the brain. Symptoms manifest in affected individuals between the ages of 20 and 50. Gene located on chromosome 4; triplet repeat disorder. "Hunting 4 food".
Familial adenomatous polyposis:
Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected. Deletion on chromosome 5; 5 letters in "polyp"
Hereditary spherocytosis:
Spheroid erythrocytes; hemolytic anemia; increased MCHC. Splenectomy is curative.
Achondroplasia:
Autosomal-dominant cell-signaling defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism; short limbs, but head and trunk are normal size. Associated with advanced paternal age.