11 In '11 Unit 2

Front 1

Myotubular myopathy

Back 1

defect in lipid phosphatase resulting in embryonic muscle tissue; x-linked; Xq28 mutation in MTM1 gene encoding for myotubularin protein-lipid phosphatase; central nucleus in skeletal muscle

Front 2

Duchenne's muscular dystrophy

Back 2

mutation in gene for dystrophin; X-linked (Xp21); can't anchor actin to ECM; disruption of sarcolemma (Ca); increased serum creatine kinase levels

Front 3

Botulism

Back 3

inhibits ACh release at NMJ; foid poisoning by Clostridium botulinum toxin (BOTOX); inhibits ACh at NMJ

Front 4

Myasthenia gravis

Back 4

autoimmune disease affecting ACh receptors (antibodies); ptosis (dropping eyelid) and diplopia (double vision)

Front 5

Rhabdomyosarcoma

Back 5

cancer arising from striated muscle; common in children-embryonal; alveolar-teens; anaplastic-rarer; IF desmin

Front 6

Central core disease

Back 6

mutation in ryanodine receptor; poor muscle tone, skeletral deformities; abnormality in myofibers, myosin ATPase will have devoid staining

Front 7

Nemaline myopathy

Back 7

defect in nebulin; histology- nemaline bodies/rods (actin and alpha-actinin); muscle weakness, respiratory issues

Front 8

Desmin-related myopathy

Back 8

mutation in desmin results in loss of sarcomeric structure (agreggates instead of IF rods); sarcomere misaligned and loss of Z-lines; desmin inclusion bodies;

Front 9

Myocardial infarction

Back 9

necrotic death of myocytes from prolonged ischemia (less than 20 min); lactic dehydrogenase-1 and creatine kinase in serum

Front 10

Pompe's disease (Acid maltase deficiency)

Back 10

loss of acid maltase in muscle, cannot process carbs, affects glycogen conversion to glucose in lysosomes (LSD)

Front 11

Naegleria fowleri infection

Back 11

a protist into CNS via nose, olfactory mucosa and cribriform plate, cause primary amoebic meningoencephalitis (PAM)

Front 12

Sinusitis

Back 12

maxillary in adults, ethmoid in children; blockage of drainage by paralysis of ciliary elevator, respiratory infection, deviated septum

Front 13

Cystic Fibrosis

Back 13

nasal polyps; sweat test, defects CFTR, Cl is degraded in golgi bc protein foldin. decreased Na/Cl in sweat glands, other cells Na reabsorps and water moves in cell (thick mucous)

Front 14

RDS

Back 14

decreased surfactant; from prematurity, diabetes, C section; atelectasis results in intrapulmonary shunting; collapses alveoli lined by hyaline membranes; failure of Type 2

Front 15

ARDS

Back 15

hyaline membranes appear, Type 1 die and replaced by type 2; intraalveolar edema, mem w/fibrin and cell debris

Front 16

Atelectasis

Back 16

loss of lung volume bc inadequate expansion, collapse of alveolus

Front 17

Early acute pneumonia

Back 17

alveoli fill with wbc/rbc (hepatization); enlarged capillaries, filled with neutrophils, fibrin

Front 18

Mesothelioma

Back 18

malignant tumor in serous membranes, 90% are pleural, exposure to asbestos; spread to pericardium and diaphragm; results in thickening

Front 19

CC16

Back 19

clara cells protein is marker of bronchiole damage (COPD/asthma); secretion of protein decreases; serum levels increase because leakage across blood-air barrier

Front 20

Bronchiectasis

Back 20

permanent dilation of bronchi, destruction of cartilage and elastic tissue, caused by CF,TV,carcinoma,primary ciliary dyskinesia; in lower lobes

Front 21

A1-antitrypsin deficiency leading to emphysema

Back 21

emphysema=permanent enlargement of air spaces distal to terminal bronchiole, narrowing of bronchioles, alveolar macrophages in air spaces; this deficiency causes severe emphysema; from liver, degrades elastin and replaced by CT

Front 22

artherosclerosis

Back 22

large and muscular (medium) arteries; accumulation in intima with sm muscle, lipits, CT; fatty streak-macrophages with lipid, T-lymphocytes; fibrofatty plaque-thick fibrous CT

Front 23

marfan syndrome

Back 23

death-aortic dissection; fibrillin disorder; faulty tunica media, mitral valve, changes in chordae tendinae

Front 24

vessel aneurysms

Back 24

dilation of artery by 50%, weakened vessel wall, artherosclerosis or bacterial/fungal infection; men>55 have abdominal; syphilitic-T.pallidum obliterated vaso vasorum

Front 25

thrombosis

Back 25

intravascular mass attached to vessel wall; coagulation factors, rbc, platelets; endothelial cell injury

Front 26

embolism

Back 26

detached mass carried by blood

Front 27

hypertension

Back 27

multiplication of sm muscle, tunica media increase in thickness, sm m accumulate lipid (narrow lumen), hyperplasia

Front 28

Aschoff body

Back 28

lesion of rheumatic myocarditis: degenerated collagen surrounded by lymphocytes, plasma cells, histiocytes; Anitschkow-histiocyte, multinucleated (ribbon), CT of myocardium

Front 29

Raynaud's phenomenon

Back 29

reversible ischemia of peripheral arterioles involving fingers and toes; vasospasm; associated with another illness (autoimmune)

Front 30

Lymphedema

Back 30

defect in lymph transport bc abnormal/damaged; accumulation of fluid and proteins in ECM; chylothorax (accum of fat); chyle accumulate 75-200 ml/hr

Front 31

giant cell arteritis (GCA)

Back 31

inflamm vasculitis affecting med and large arteries; visual loss; inflam of aortic arch; segmental or patchy; related to internal elastic lamina; inflam infiltrate in media of arterial wall; extracranial vertebral, superficial temporal, ophthalmic

Front 32

high levels of ET-1 (endothelin) gene expression

Back 32

endothelium-induced vasoconstriction (bc decrease NO); endothelial and sm muscle cells; systemic hypertension

Front 33

Peptic ulcer

Back 33

open sores in stomach, sm intestine, esophagus; internal bleeding, peritonitis if penetrates organ wall, worse with empty stomach; bacterial infection or medication; treat with antibiotics/proton-pump inhibitors

Front 34

pernicious anemia

Back 34

disruption of RBC in bone marrow bc deficiency in Vit B12; antibodies against H/K ATPase so decrease HCl and lack of intrinsic factor

Front 35

Zollinger-Ellison syndrome

Back 35

gastrin tumors of pancreatic islets or sm intestine; hyperplasia/hypertrophy; high acid secretion (HCl by parietal); proton-pump inhibitors

Front 36

gastric reflux

Back 36

barretts esophagus; strat squamous to simple columnar epi; high risk for esophageal adenocarcinomas; low pH digestive enzymes

Front 37

gluten enteropathy

Back 37

destructive effects of certain glutens on intestinal villi; reduces SA for absorption

Front 38

colorectal carcinoma

Back 38

age>50, polyps, ulcerative colitis, Crohn disease, from adenomatous polyps, asymptomatic for years, rectal bleeding, gas pain, incomplete bowel emptying, diet-related

Front 39

diverticulosis/diverticulitis

Back 39

diverticulosis-herniation of colon wall, muscosal layers protrude through; diverticulitis-inflammation; 10%>40, 50%>60; low-fiber diet

Front 40

appendicitis

Back 40

blockage, previous infection; naval to lower right; 12-18 hrs; mucosal inflam and necrosis

Front 41

internal hemorrhoids

Back 41

enlargements of rectal venous plexus; increased venous pressure in portal circulation; 75% of ppl, low fiber, breakdown of CT, pregnancy; red blood

Front 42

inflammatory bowel disease

Back 42

ulcerative colitis (muscosa of lg intestine) and Crohn disease (any segment); Crohns is chronic inflam producing cytokines damaging mucosa, granulomas

Front 43

Hirschsprung disease

Back 43

congenital megacolon; mutation preventing migration and differentiation of neural crest cells; aganglionosis; permanently contracted and does not allow entry of contents so constipation; thick/irreg nerve bundles, no ganglion cells, 25% newborn obstructions, Downs syndrome

Front 44

salivary gland tumors

Back 44

80% benign; originate in parotic; pleomorphic containing ducts, CT, myoepithelial cells; painless

Front 45

sjogren syndrome

Back 45

xerostomia (cotton mouth), dry eyes, autoimmune, female dominant; aggregates of 50 lymphocytes adjacent to mucous acini

Front 46

acute pancreatitis

Back 46

injury to acinar cells, duct obstruction, secretion against obstruction (gallstone), inapprop activation of proenzymes, AIDs, ethanol; increased serum amalyase, fat necrosis (lipase), vascular destruction (proteases)

Front 47

cystic fibrosis

Back 47

mucous inspissation in ducts, secondary atrophy of glands (blocking lumens); cause pacreatic exocrine deficiency; from dehydrated secretions blocking duct lumens

Front 48

centriolobular necrosis

Back 48

zone 3 hepatocytes ischemic necrosis, congestive heart failure, around central vein

Front 49

alcoholic hepatitis

Back 49

swollen in centrilobular region, mallory bodies, neutrophils, collage deposited around central vein, become fat cells; baloon cells, lipocytes

Front 50

cirrhosis

Back 50

death of hepatocytes, increased collagen; loss of classic lobule arrangement

Front 51

cholelithiasis

Back 51

gallstones from bile, cholesteral (most common), iron (rbc breakdown), or infections in common bile duct; risk factors: female, fat, forty, fertile

Front 52

cholecystitis

Back 52

gallstone impacted in cystic duct, inflam and infection; thickened muscular layer, impaired fat breakdown, high pressure rearranges mucosa

Front 53

role of hepatic stellate cells in portal hypertension

Back 53

change function/type to lay down matrix (increases), produce collagen and ECM; affect sinusoids (constricted by myofibroblasts)

Front 54

A1 Anti-trypsin (AAT) deficiency

Back 54

produced in the liver to protect lung from neutrophil elastase activity; 50% get cirrhosis; accumulates in PAS globules