Biochem

Front 1

Collagen Type I (90%):

Back 1

Bone, Skin, Tendon, dentin, fascia, cornew, late wound repair

Front 2

Collagen Type II:

Back 2

Cartilage (including hyaline), vitreous body, nucleus pulposus

Front 3

Collagen Type III (Reticulin):

Back 3

skin, blood vessels, uterus, fetal tissue, granulation tissue

Front 4

Collagen Type IV:

Back 4

Basement membrane or basal lamina

Front 5

Vimentin:

Back 5

connective tissue

Front 6

Desmin:

Back 6

Muscle

Front 7

Cytokeratin:

Back 7

Epithelial cells

Front 8

Clial fibrillary acid proteins (GFAP):

Back 8

Neuroglia - astrocytes

Front 9

Neurofilaments:

Back 9

Neurons

Front 10

Von Gierke's Disese (Type I):

Back 10

(severe fasting hypoglycemia, double increase glycogen in liver, increase blood lactate, hepatomegaly). Glucose-6-phosphatase

Front 11

Pompe's Disease (Type II):

Back 11

(Cardiomegaly and systemic findings leading to early death). Lysosomal a-1,4-glucosidase (acid maltase)

Front 12

Cori's Disease (Type III):

Back 12

(Milder form of Type I with normal blood lactate levels). Debranching enzyme a-1,6-glucosidase

Front 13

McArdle's disease (Type V):

Back 13

increase glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise). Skeletal muscle glycogen phosphorylase (myophosphorylase)

Front 14

Sphingoliposes Frabry's Disease (XR):

Back 14

(Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease). a-galactosidase A, Ceramide trihexoside.

Front 15

Gaucher's disease (most common):

Back 15

(Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages)). B-glucocerebrosidase, Glucocerebroside

Front 16

Niemann-Pick disease:

Back 16

(Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot (on macula)). Sphingomyelinase, Sphingomyelin

Front 17

Tay-Sachs disease:

Back 17

(Progressive neurodegeneration, developmental delay, no hepatosplenomegaly, cherry-red spot, lysozymes with onion skin). Hexosaminidase A, GM2 ganglioside

Front 18

Krabbe's disease:

Back 18

(Peripheral neuropathy, developmental delay, optic atrophy). B-galactosidase, Galactocerebroside

Front 19

Metachromatic leukodystrophy:

Back 19

(Central and peripheral demyelination with ataxia, dementia). Arylsulfatase A, Cerebroside sulfate

Front 20

Mucopolysaccharidoses Hurler's Syndrome:

Back 20

(Developmental delay, gargolylism, airway obstruction, corneal clouding, hepatosplenomegaly). a-L-iduronidase, Heparan sulfate, dermatan sulfate

Front 21

Hunter's syndrome (XR):

Back 21

(Mild Hurler's + aggressive behavior, no corneal clouding). Iduronate sulfatase, Heparan sulfate, dermatan sulfate

Front 22

Lead poisoning:

Back 22

Herrochelatase and ALA dehydrase. Coproporhyrin and ALA

Front 23

Acute intermittent porphyria:

Back 23

Uroporphyrinogen I synthase. Porphobilinogen and S-ALA

Front 24

Porphyria cutanea tarda:

Back 24

Uroporphyrinogen decarboxylase. Uroporphyrin (tea-colored)

Front 25

Adult polycystic kidney disease:

Back 25

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.

Front 26

Familial hypercholesterolemia (hyperlipidemia type IIA):

Back 26

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.

Front 27

Marfan's syndrome:

Back 27

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.

Front 28

Neurofibromatosis type I (von recklinghausen's disease):

Back 28

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

Front 29

Neurofibromatosis type 2:

Back 29

Bilateral acoustic neuroma, juvenile cataracts. NF2 gene on chromosome 22; type 2 = 22.

Front 30

Tuberous sclerosis:

Back 30

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

Front 31

Von Hippel-Lindau disease:

Back 31

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.

Front 32

Huntington's disease:

Back 32

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".

Front 33

Familial adenomatous polyposis:

Back 33

Colon becomes covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected. Deletion on chromosome 5; 5 letters in "polyp"

Front 34

Hereditary spherocytosis:

Back 34

Spheroid erythrocytes; hemolytic anemia; increased MCHC. Splenectomy is curative.

Front 35

Achondroplasia:

Back 35

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.