Pafology

Elephantiasis - removal of lymph nodes, filaria parasites, Miliroy disease

Quincke Angioneurotic edema

Severe, generalised, sudden onset, allergy related. Larynx, lungs

Gilbert-Meulengracht syndrome - reudction of glucoronil-transferase acitivity, fluctuating jaundice and tirendess

Crigler-Najjar syndrome - lack of glucornil transferase, death within first year of life

Dublin-Johnson syndrome - decreasted biliribin exreation, chronic, fluctuating desiase, bilirubin and pigments in hepatocytes and heptomegaly

Rotor syndrome

Fluctuating jaundice, beningn outcome

Acanthosis nigircans

Addisn’s disease

Peutz Jaghers sndrome

Anthrachosis/coal worker’s pneumconiosis - Carbon or coal dust

Silicosis - SiO2, in stone workers (silicia in rock, quartz, and sandstone) Forms garnulomas, fibrosis, and carcinomas

Asbestosis - Mig silicate from ship building, construction, demolitiion. Fibrosis and risk for mesothelioma

Siderosis - Fe, pyrite mines

Calcinosis and aluminosis…

Both risk factor for fibrosis

Bisinosis - cannavis sativa/ hemp

Bagasiosis - (bag of) sugar cane/saccharum officinale

Anthraquinone drugs - melanosis of the colon

Glycogen storage diseases causes HHCM

Hepatomegaly, hypoglycemia, cardiac failure, muscle cramps

Gierke’s disease GSD 1 Glucose-5-phosphate DH - most frequent GSD, nanism, hypoglycemia, hyperlipedemia, hyperuicemia

Pompe’s disease GSD2 Acid Maltase - most sever form of glycogenosis, death in first month of life

Forbe’s disease GSD3 Amylo 1-6 - hepatosplenomegalia

Galactosemia

Deficiency of galactose-1-phosphate-uridyl-transferase (GALT) - Galactose is transformed into galactitol, stored in liver, spleen, cristalin, kidney, cerebral cortex

Gaucher’s disease

Lysosomal storage disease - Lack of glucocerebrosidase, storage of glucocerebroside, liver, spleenn, skeletal and brain involvement with Gaucher cells in the brain

Niemann-Pick disease

Lack of sphingomyelinase, sotrage of sphingomyelin and cholesterol, mental retardation and visceral accumulation

Tay-Sachs disease

Lact of hexos A, storage GM2, neurns and retina affected, blind and death belowage of 3 years

Farber’s disease

Accumulation of ceramide

Fabry

Sotrage of glycolipids within endothelium

Mucopolysaccharides storage diorders, cause CRHMS

Deficiency of aLi, causes cardiac and respiratory disorders, hepatosplenomegay, mental deterioriation, and skeletal deformity

Recklinghausen disease

Extreme systemic iron accumulation. Liver cirrhosis, bronze skin pigmentation, bronze diabetes (pancreases fibrosis and diabetus), brown pigmentation of myocardium, brown pigementation and fibrosis of adrenal glands

Marfan’s syndrome

Defect in FBN1 gene for fibrillin controlling integrity of elastic fibers. Tall, arachnodactylly, long extremities, joint hypermobility, ectopia lentis, aortic and mitral valve incompetence, mitral valve prolpases, aortic dissection

Ehlers-Danlos syndrome

Disorder in synthesis of collagen. Hypextensibility of skin, hypermobile joints, vessel wall lesions. Artery and colon rupture, aortic dissection, cornia rupture, retinal detachment, diapgragmatic hernia

Aging genes are on which chromosmoes and follow what transmission pattern

1, 4, and 6. AD

Coagulative (dry) necrosis occurs during…

Infarction (except brain)

Caseous necrosis occurs during

TB, syphilis, tumors

Liquefactive (colliquative) (wet) necorsis occurs during

Brain infarction

Fat necrosis (steatonecrosis) occurs during

Adipose tissue, pancreatitis

Gangrenous necrosis occurs during

Legs, ombiilucs. Dry gangrene occurs to tissues exposed to air, toes, legs, stump. Wet gangreme causes putrefaction, lung, bowl, gallbladder. Gas gangrene putrefecation and gas-producing anaerobic bacili, clostridium perfingens.