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195 Cards in this Set
- Front
- Back
Genetic Disease
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pathological condition caused by an absent or defective gene or by a chromosomal aberration
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Congenital Disease
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disease present at birth
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Familial Disease
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disease transmitted in gametes through generations
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Hereditary Disease
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Disease derived from parents
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Autosomal Dominant
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-seen in heterozygous state
-seen and is transmitted in males and females equally -enzyme proteins NOT affected -ex: Marfans/Hunington's |
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Autosomal Recessive
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-largest group
-both alleles are mutated -males and females affected equally -INVOLVES enzyme proteins -ex: sickle cell anemia, Cystic Fibrosis |
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X linked
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transmitted by heterozygous female to their sons
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Marfans Syndrome
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-autosomal dominant of connective tissue affecting fibrillin
-mutations found in FBN1 -skeleton-long legs and ams, kyphoscoliosis, hyperextensible joints -cardiovascular-aneurysms, aortic dissection/incompetente,cardiac failure |
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Ethler Danlos Syndrome (EDS)
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-defects in collegen synthesis
-deficiency in (lysyl hydroxylase) enzyme -symptoms-strechabe and fragile skin, vulnerable to trauma |
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Familial Hypercholesterolemia
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-most common medelian disorder
-causes by mutations in the LDL receptor genes -heterozygous-symptomless until adulthood, elevated serum cholesterol -homozygous-greater risk, die at 15 do to MI |
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Phenylketonuria
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-due to inability to convert phenylaline to tyosine
-features-MR, seizures,hypo pigmentation of skin and hair -avoid-phenylalanine in diet |
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Galactosemia
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-inability to convert galactose to glucose due to lack of transferase enzyme
-features- -infancy-heptosplenomegally,aminoaciduria,ecoli sepsis,jaundice,vomiting,diarrhea -children-cataract,speech/neurological deficits,ovarian failure -prevention- avoidance of galactose during first 2 years |
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mucopolysaccharidoses
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-accumulation in liver,spleen,heart,brain
-features-course face,corneal clouding,joint stiffness |
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glycogen storage diseases
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-inherited deficiency of any one of the enzymes involved in glycogen synthesis or degradation
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hepatic type/Von Gierke disease
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-most important
-due to glucose-6-phospahte deficiancy -results in hepatomegaly |
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myopathic type
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-muscle weakness
-cramps -myoglobinuria |
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type II glycogenisis
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-Pompe disease
-deposition of glycogen in all organs -cardiomegaly prominent |
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Cytogenetic disorders
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-1/200 are corn with some type of chromosomal abnormality
-results from alterations of number or structure -affects sex or autosomal chromosomes |
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types of cytogenetic disorders
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-euploid-exact multiple of haploid
-polypoid-increasing multiples, greater than 2 -aneuploid-not an exact multiple of (n) -gametes-have extra chromosome -barr bodies- (1 inactive sex chromosome) female 1 males 0 XXX 2 |
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trisomy 21/ downs syndrom
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-increases with maternal age
-translocation(familial form) -MR, large forhead, wide eyes, epithelial fold,curvature of 5th finger, singular palm crease -complications-CHD, leukemia,brain similar to alzheimers, |
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Cri du chat (le Jeune's)
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-deletion of short arm (p) on chromosome 5
-MR, micrcephaly, catlike cry |
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Patau Syndrome (trisomy 13)
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-MR,microcephaly,micropthalmia, cleft lip and palate,polydactyle,rocker bottom feet,umbilical hernia
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edwards syndrome
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-nondisjunction in trisomy 18
-MR,microganthis,rocker bottom feet, flexion deformities, congenital heart disease |
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Klinefelters syndrome
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-male hypogandism with 2x or 1 or more Ys
-single barr body -atrophic testes, tall stature, low testosterone |
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Turners syndrome
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-hypogonadism is females
-primary cause of amenorrhea(no period) -no barr body -not complicated with MR -overies replaced by fiberous streaks -decreased estrogen -short stature, webbed neck, shield chest with widely spaced nipples |
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sudden infant death syndrome
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-death under 1 year with unexplained cause
-occurs in sleep due to soft bedding or sleep position -pitechiae in thymus,pleura and epicardium |
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cystic fibrousis
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-most common lethal disease in caucasions
-mutation in CFTR gene on chromosome 7 (facilitates movement of chloride across membrane) -increased viscosity of mucous and increased sodium and chloride in tears and sweat -clinical manifestation-chronic pulmonary disease, pancreatic insufficiency,liver involvment in males (absence of vas deferens) -symptoms- malabsorption,large foul stool, chronic cough |
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thalidomine baby
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-deformation
-pill given to pregnant women for morning sickness |
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TORCH
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-toxoplasm
-Rubella -CMV (virus) -Herpes -Other |
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Respiritory distress syndrome
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-occurs in infants reterm
-factors-diabetic mother,cesarian before onset of labor -inability to synthesize enough surficant by immature lung -TX-corticosteroids,surficant therapy |
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hemangiomas
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-common benign tumor on skin (port wine stains)
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Sacrococcygeal teratomas
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-benign but 12% turn malignant
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Neuroblastoma
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-malignant tumors of the sympathetic ganglia and adrenal medulla
-present with weight loss, fever,preturbeant abdomen -can metastasize -(bluberry muffin baby) -use VMA and HMA for screening |
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Retinoblastoma
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-common malignant eye tumor
-spontaneous regresstion -increased risk of osteosarcoma -whitish blue pupils (cats eye reflex) |
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Wilm's Tumor
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-neuphroblastoma (kidney tumor) occurring in children between 2-5
-WAGR syndrome -problem in chromosome 15 -aniridia (without iris), MR, genital abnormalities |
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Arterioscleriosis
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-general term for thinking and rigidity of vessels
-3 types arteriolosclerosis, Monochkeberg medical calcific sclerosis, Atherosclerosis |
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Arteriolosclerosis
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-hyaline thickening to proliferative changes of small arteries or arterioles
-onion skin appearance -(hardening of arterial walls) |
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Monchkeburg medical calcific Sclerosis
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-medium sized arteries (usually radial and ulnar arteries)
-affects those over 50 -characterized by ring like calcifications in the media -does not obstruct arterial blood flow -results in calcific stiff "pipe stem" arteries |
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Artherosclerosis
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-most frequent cause of significant morbidity
-charcaterized by fibrous plaques or artheromas within intima -plaques have central core of cholesterol, calcium, foam cells,necrotic debris -core is covered by fibrous cap -plaques may be complicated by calcification, hemorrhage, ulceration -consequences- ischemic heart disease, MI, stroke, ischemic bowl disease -weakening of vessel wall may cause aneurysm formation |
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Hypertensive vascular disease
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-sustained elevation of pressure
-2 categories (essential, secondary) |
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essential hypersension
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-unknown etiology
-complications- retinal changes, left ventricle hypertrophy, cardiac failure, benign nephrosclerosis, predispose to ischemic heart disease or stroke |
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secondary hypertension
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-known causes include renal disease (most common),acromegaly,hyperthyroidism
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malignant hypertension
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-can be a complication of primary or secondary hypertension
-increased diastolic blood pressure. -in young black males -"flea bitten kidney" -Criteria-sustained diastolic pressure above 90 sustained systolic pressure above 140 |
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Aneurysms
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-localized abnormal dilations
-2 types- *true- all layers of vessel wall involved *false-breach in vessel wall leading to pulsating hematoma -causes-atherosclerosis, medial degradation, trauma,syphilitic aneurysm |
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Elaborate AAA
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-occurs in men over 50
-familial predisposition -artherosclerosis, can lead to rupture, obstruction in branches, embolism |
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Aortic dissections
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-occurs in hypertensive men between 40-60
-splitting of media layer -2 types- *proximal (type a)-ascending or descending aorta -distal(type b)- beginning distal to subclavian artery -symptoms- sudden pain, anteriorly radiating to back b/t scapulae |
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Thromboanginitis Obliterans
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-imflammation of medium and small arteries
-occurs in smokers before 35 -early manifestation-cold sensitivity later becomes severe "black hands and feet", pain even at rest -common in isrial, India, Japan |
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Raynaud Phenomenon
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-recurrent vascospasm of small arteries and arterioles resulting in pallor or cyanosis in fingers and toes
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Varicose veins
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-abnormally dilated and tortuous veins
-most often superficial veins of lower extremities -predisposed by increased venous pressure which occurs in pregnancy, obesity and prolonged standing |
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Esophageal varices
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-portal hypertension opens shunts increasing blood flow in veins at gastroesophageal junctions
-backs up stomach and food pipe |
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Hemorrhoids
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-dilation of venous plexus at anorectal junction
-causes- straining during dedication, portal hypertension, pregnancy, prolonged sitting |
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Caput Madusa
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-distended engorged periumbilical veins
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venous thrombosis
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-affects deep veins of lower extremities
-occurs with(thrombophlebitis) or without(phlebothrombosis) inflammation of veins |
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hemangiooma
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-predominantly benign tumor of the blood vessels
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Kaposi's Sarcoma
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-intermediate(locally aggressive) tumor
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Angiosarcoma
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-highly malignant
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congestive heart failure
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-FINAL common pathway of many cardiac dieases
-multi system derangement when heart is no longer to eject blood *forward failure-inadequete cardiac output (can't go out *backward failure- increased venous congestion (back up) |
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Left heart failure
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-causes-systemic hypertension, mirtal or aortic valve disease,ischemic heart disease
features- dyspnea when laying down but relieved when sitting up, cardiomegally |
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Right heart failure
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-causes- left side failure, tricuspid or pulmonary valve disease
-heart chambers are dilated and hypertrophied, fluid in pericardial cavities and liver has a nutmeg like appearance -features- few respiratory symptoms,weight gain, distended neck veins |
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congenital heart disease
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-common cause of childhood heart disease
-chromosomal abnormailites -patent ductus arterioles should close when born but doesn't |
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Atrial Septal defect
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-division between atrials
-most common-ostium secundum -initially cause left to right shunt (no getting good blood) -pulmonary hypertension develops complications- heart failure, eisenmengers syndrome, paradoxical emboli |
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Ventricular Septal Defect
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-most common congenital heart defects
-direct communication between ventricular chambers -small VSD asymptomatic and close spontaneously -large VSD may lead to pulmonary hypertension, several of shunt, right ventricle hypertrophy |
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Right to Left shunts
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-Tetralogy of Fallot- most common congenital heart disease
*4 things -pulmonary outflow obstruction -right ventricle hypertrophy -ventrical septum defects -overriding aorta -features-cyanosis, SOB, digital clubbing, polycythemia |
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preductal coarctation
infantile type |
-associated with Turners Syndrom
-narrowing of aorta prior to ductus asteriosis -poor prognosis without surgery -infant with CHF, cyanosis in lower extremities and weak pulses |
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postductal coarctation
adult type |
-narrowing to aorta distal to the ductus arteriosis
-child or adult with hypertension on the upper extremities and hypotension and weak pulses in lower -chest xray- notching of ribs |
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ischemic heart disease
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group of syndromes caused by an imbalance between the myocardium oxygen demand and blood supply
-caused by partial or complete interruption of aerial blood flow to the myocardium -majority is caused by artherosclerotic narrowing of coronary arteries |
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angina pectoris
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-episodic chest pain, transient cardiac ischemia w/o cell death resulting in substernal chest pain
-3 types- stable angina, unstable angina, variant/primzental angina |
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stable angina
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-most frequent
-pain caused by exertion and relieved by rest or vasodilators -severe narrowing of atherosclerotic arteries |
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unstable angina
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-prolonged or recurrent pain at rest, increasing frequency, duration and intensity at rest
-indicative of imminent MI |
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Varient/prinzmental angina
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-caused by coronary artery vasospsm
-intermittent chest pain at rest -relieved by nitroglycerin |
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Myocardial Infarction
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-localized area or cardiac muscle necrosis die to ischemia
-most common cause of death in the US. 1/3 die -men affected more until women reach menopause -disruption of coronary artery thrombosis LAD(45) RCA (35) LSA (15) *response to ischemia -between 20-40 cause irreversible damage -infract reaches flu size in 3-6hrs. coagulative necrosis followed by fibrosis *clinical presentation- crushing chest pain, elderly may be silent infarcts, pain radiates to left arm, chest heaviness *diagnosis- |
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sudden cardiac death
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-death within 1 hour
-usually ventricular fibrillation |
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calcific aortic stenosis
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-common valvular abnormality
-age related dystrophic calcification -common in bicuspid aortic valve (backup in L side) |
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mital valve prolapse
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-young women
-affects 5-10% of population -associated with marfans syndrome -enlarged floppy mural valve leaflets that prolapse in atrium |
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Rheumatic valvular disease
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-multisystem inflammatory disorder most often affecting children 5-15
-occures 1-4 weeks after an episode of tonsillitis or streptococci -licks the joints and bites the heart -asschoff bodies |
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infective endocarditis
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-imflammation inside heart
-serious infection involving microbial invasion of the valves and the endocardium -caused by fungi richettsiae, chamydia or any extracellular bacteria -features-fever chills, systematic emboli, roth spots, osier nodes (painful) janeway lesions (painless) |
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marantic Endocarditis
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-non bacterial thrombotic endocarditis
-small sterile vegitations -in patients with metastatic cancer -caused by secretory products of carcinoid tumors (epinephrine) -right side of heart |
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Cardiomyopathies
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-heart muscle gets big causing blood flow to become small
-diseases of heart muscle that are non inflammatory -characterized by ventricular dysfunction |
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congestive/dilated cardiomyopathy
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-cardiac enlargement with dilation of all four chambers
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hypertrophic cardiomyopathy
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-asymmetrical spetal hypertrophy
-common cause of sudden death in young athletes |
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restrictive cardiomopathy
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-uncommon
-caused by disease that produce restriction of cardiac filling during diastole |
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myxoma
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-tumor of primitive connective tissue
-most common primary tumor (in atrium) |
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anemia
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-decrease in whole body red cell mass, hemoglobin or hematocrit
-can be- microcytic-iron deficiency -macrocytic-folate or B12 deficiancy -normocytic-sickle cell, hereditary spherocytosis |
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hemolytic Anemias
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-anemias due to shortening of red cell life span
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sickle cell anemia
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-hemoglobinopathy-disorders that show structural abnormalities of hemoglobins
-hbA(which is normally 96% is replaced by hbS) -homozygous all are replaced and lead to sickle cell anemia -heterozygous-50% are replaced and have sickle cell trait |
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thalassemias
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-heterozygous group of genetic disorders characterized by deficient production of with or the two globin chains (a,B)
-both have inadequate amounts of hemoglobin resulting in red bloods that are microcytic and hypochromic |
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glucose 6 phosphate dehydrogenase deficiency
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-reduces res cells to protect themselves from oxidative injury
-on x chromosome -asymptomatic until exposed to incriminating drugs or infections -bite cells |
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iron deficiency anemia
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-affects 10% in developed 50% in developing
-total body iron content in woman is 2gm and in met 6gm -iron balance regulated by absorption of dietary iron -causes- low dietary intake, malabsorption, increased demand, chronic blood loss -manifestations-assympomatic, weakness, pica, |
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megoaloblastic anemia
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-Caused by deficiency of folate of fit B12
-defined by large erythroid precursor cells in bone marrow -leads to pancytopenia (everything is low in bone marrow) |
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folic acid deficiency
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-severe dietary deprivation (alchoholics, fad dieters), pregnancy, intestinal malabsorbtion
-this is why we have prenatal vitamins |
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Vitamin 12 deficiency
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-most common form of megaloblastic anemia
-leads to demyelinating disorder (myelin sheet is around neurons, so actions are not the way they should be) |
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aplastic anemia
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-severe anemia resulting in suppression of myeloid stem ells resulting in marrow failure and pancytopenia (less RBC and WBC and platelets)
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polycythemia
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-increase in concentration of red blood cells with increased hemoglobin concentration
*primary-due to proliferation of myeloid stem cells *secondary-due to red cell progenitors |
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Agranulocytosis/Neurtropenia
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-reduction in number of granulocytes in blood
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Leukemia
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-group of malignancies of either lymphoid of hematopietic cell origin
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acute leukemia
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-predominance of blast cells
-occur most often in children -second peak at age 60 -without therapeutic intervention death occres within 6-12 months |
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ALL acute lymphoblastic Leukemia
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-characterized by predominance of lymphocytes (T and B cells)
-occurs most often in children of age 4 -MOST responsive to therapy |
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AML acute myeloblastic leukemia
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-characterized by predominance of myeloblasts and early promylocytes
-occurs frequently in adults |
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chronic leukemias
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-more mature than those of acute
-have longer less devastating clinical course |
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CLL chronic Lymphocytic Leukemis
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-characterized by proliferation of neoplastic lymphoid cells (almost always b cells)
-incapable of differentiating into antibody producing plasma cells -occurs mostly in men over 60 -appearing on smear as "smudge cells" *complications- cells wil start breaking down (hemolytic anemia) less platelets (thromocytopenia) and less antibodies (hypogammaglobulinemia) *clinical- hepatosplenomegaly, 3-7 year survival |
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CML chronic Myeloid Leukemia
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-neoblastic clonal proliferation of myeloid stem ells
-characterized by reciprocal transformation between chromosome 9 and 22 resulting in philadelphia chromosome -peak incidence 35-50 |
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polycythemia vera
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-marked by erythrocytosis (too much RBC)
-decreased erythropoietin |
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multiple myeloma
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-malignant plasma cell tumor that typically involves bone and is associated with prominent serum and urine protein abnormalities
-produce lytic lesions in skull ad axial skeleton -punched out lesions on X-ray, osteopenia, bone pain and spontaneous fractures, Bence Jones proteins in urine, hypercalcimia |
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Hodgkins Disease
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-malignant neoplasm
-affects young adults (men) -cure is often achieved |
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Reed Sternbergs cells
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-may be actual malignant cells of Hodgkins disease
-binucleated or multi (owls eye) |
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non hodgkins lymphomas
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-malignant neoplasm within lymphoid cells or in other lymphoid tissue
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Thrombocytopenia
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-decreased platelet count and prolonged bleeding
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Atelectasis
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-loss of lung volume due to inadequate expansion of the airspace resulting in hypoxia
-pseumothorax- air goes into lung |
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Obstructive Lung Disease
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-decreased airflow due to obstruction
-FVC normal but FEV1 is decreased |
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restrictive lung disease
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-decreased expansion and decreased total lung capacity
-FVC reduced but FEV1 normal |
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emphysema
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-permanent enlargement of airsacs distal to terminal bronchioles
-consequence of cigarette smoking which breaks down the elasticity -CO2 stays in (problem breathing out) -clinical- pink puffers-no bronchitic component, barrel chested, prolonged expiration (takes a long time to breathe out -blue bloaters-have recurrent bronchitis with purulent sputum, less respitor drive leads to CHF |
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chronic bronchitis
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-common upon cigarette smokers and urban dwellers
-productive cough for 3 consecutive months in at least 2 consecutive years -hypertrophy(size) of mucus glands |
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Bronchial asthma
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-chronic inflammatory disorder of airways
-caused by repetitive immediate hypersensitivity and late phase reactions -2 types- atopic-70% due to IgE environmental -non atopic- 30% exercise stress aspirin -type 1 hypersensitivity reaction -late phase reaction occur 4-8 hrs after acute and lasts 12-24 |
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Bronchiectasis
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-permanent dilation of bronchi and bronchioles due to chronic infections or obstruction
-cystic fibrosis and Kartangers syndrome- makes and doesn't move mucous honeycombing |
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Pneumoconiosis
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-comprises of anthracosis(coal), silicosis, and asbestosis
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coal workers pneumoconiosis
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simple CWP- asymptomatic, no pulmonary dysfunction
-characterized by coal macules and coal nodules with collagen fibers complicated CWP-massive fibrosis, reduced lung function, coal nodules coalesce |
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silicosis
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-most common chronic occupational disease
-macrophages release cytokins and free radicals -increased susceptibility to TB and cancer |
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asbestosis
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-liked with 6 disease processes
-cigarette smoking increases risk --even family members exposed to asbestos are at a higher risk of cancer |
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Sarcoidosis
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-multisystem with unknown etiology
-non caseating grandulomas -40 or older (non smokers -non matted hilar and paratracheal lymph nodes -plaque and granules on skin |
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diseases of vascular origin
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-pulmonary embolism, hemorrhage, infarction
-emboli often arise from deep veins of leg -60-80% silent -one episode causes high reoccurrence |
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pulmonary hypertension
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-pulmonary BP reaches 1/4 or more systematic pressure
-causes- chronic obstruction, interstitial lung -recurrent pulmonary emboli -primary- in young persons (women) chest pain, CHF, death -secondary-any age, respiratory insufficiency, CHF |
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4 stages of pneumonia
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congestion
red hepatization gray hepatization(blood tries to break down) resolution |
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lung abscess
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-multiple cavities of necrotizing pneumonia may coalesce to form absess
-productive cough, foul smelling breathe, clubbing -treatment- surgical drainage, antibiotics |
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Tuberculosis
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-casues by mycobacterium tuberculosis
-casues caseous necrosis -flourishes in poverty infection by airborne transmission -positive tubercilin test (reaction 1-2 days) |
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primary tuberculosis
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-develops in previously unexposed and unsesitized person
-harboring viable bacteria to use several years later |
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secondary tuberculosis
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-usually localized in apex of the lung (hides there)
-hemoptysis (blood in cough) |
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pneumocystis pneumonia
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caused by (P) leading to restrictive lung disease
-occurs when immunity is compromised (AIDS) |
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Carcinomas of the lung
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-1 cause of cancer deaths in the US
-4 types- adenocarcinoma, squamous cell carcinoma, large cell carcinoma, small cell carcinoma. SCLC is not cured by surgery |
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pleural effusion
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fluid in pleural space
-caused by cancer, infarction, infection |
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Malignant Mesotheliomas
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-rare cancer of mesothelial cells in partietal or visceral pleura
-thick firm white pleural tumor |
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functions of Kidney
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-excretion of waste, regulation of water, maintainance of acid balance, secretion of hormones
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azotemia
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-prerenal
-due to hypo perfusion of kidneys -GFR decreased |
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Uremia
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-broader term referring to the pathological manifestations of severe azotemia
|
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nephrotic syndrome
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-derangement in capillary walls of glomeruli resulting in increased permeability to plasma proteins
-presents as- massive proteinuria, hypoalbuminemia, generalized edema, hyperlipidema |
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nephritic syndrome
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-complex collection of acute symptoms
-characterized by- hematurina,oliguria,hypertension |
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minimal change disease
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-occurs in children 1-7
-on electron microscope, disappearance or fusing of epithelial foot -due to T cell deprived factor |
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Membranous Glomerulosclerosis
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- similar to minimal change but happens in adults and children
-sclerosis of some glomeruli |
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Carcinomas of the lung
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-1 cause of cancer deaths in the US
-4 types- adenocarcinoma, squamous cell carcinoma, large cell carcinoma, small cell carcinoma. SCLC is not cured by surgery |
|
pleural effusion
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fluid in pleural space
-caused by cancer, infarction, infection |
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Malignant Mesotheliomas
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-rare cancer of mesothelial cells in partietal or visceral pleura
-thick firm white pleural tumor |
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functions of Kidney
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-excretion of waste, regulation of water, maintainance of acid balance, secretion of hormones
|
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azotemia
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-prerenal
-due to hypo perfusion of kidneys -GFR decreased |
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Uremia
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-broader term referring to the pathological manifestations of severe azotemia
|
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nephrotic syndrome
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-derangement in capillary walls of glomeruli resulting in increased permeability to plasma proteins
-presents as- massive proteinuria, hypoalbuminemia, generalized edema, hyperlipidema |
|
nephritic syndrome
|
-complex collection of acute symptoms
-characterized by- hematurina,oliguria,hypertension |
|
minimal change disease
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-occurs in children 1-7
-on electron microscope, disappearance or fusing of epithelial foot -due to T cell deprived factor |
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focal and segmental Glomerulsclerosis
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- similar to minimal change but happens in adults and children
-sclerosis of some glomeruli |
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membranounous glomerulonephritis
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-slowly progressive immune complex of unknown etiology
-occurs in ages 30-50 -thinking of basement membrane showing a spike and dome appearance |
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diabetic nephropathy
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-increase in thickness of glomerural basement
-increase in mesangial matrix results in diffuse or nodular patterns |
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poststreptococcal gloerulonephritis
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-follows or accompanies infection
-decreased serum C3 and increased ASO -characterized by an intense inflammatory reaction involving almost all glomeruli in both kidneys -lumpy bumpy |
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IgA nephropathy
(bergers disease) |
-characterized by benign recurrent hematuria in children
-2 days after a non specific respiratory orGI infection -deposition of IgA in the mesangium |
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Alports Syndrome
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-hereditary nephritis associated with nerve deafness
-x linked -mutations result in improper deposition of collagen in GBM |
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Chronic Glomerulonephritis
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-cause of end stage renal disease
-microscopic hematuria, hypertension, edema -prognosis poor- renal dialysis and tranpantation |
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Chronic Pyelonephritis
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intestinal inflammation and scarring
-important cause of renal failure |
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Analgesic Nephropathy
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-leads to chronic interstitial nephritis and renal papillary necrosis, chronic renal failure, hypertension, and anemia
|
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malignant hypertension and malignant nephrosclerosis
|
-occurs in 5% go hypertensives
-due to increasing thickening of arterioles -aldosterone increase an salt retention adds to it |
|
Urolithiasis
(kidney stone) |
-caused by calcium oxalate or calcium phosphate
-increases urine concentration of offending salts with or without increased blood levels -alkaline urine- promotes Mg and calcium stones -acidic urine-favors uric and cystine stones |
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renal cell carcinoma
|
most common renal malignancy
-deletion in chromosome 3 -occurs most often in men 50-70 -originates in renal tubes -characterized by clear cells |
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Wilms Tumor
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most common renal malignancy of early childhood.
-peaks at 2-4 -most often presents with palpable flank mass |
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hypospadias
|
-anomaly where urethral meatus opens on the ventral surface of penis
|
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Epispadias
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-anomaly where the urethral meatus opens on the dorsal surface
-less common |
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Phimosis
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tight forskin
|
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priapism
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-painful erection of the penis
-sometimes associated with venous thrombosis |
|
squamous cell carcinoma of the penis
|
0.4% in US, higher in developing countries
-preceded by carcinoma in situ |
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Bowen Disease
|
plaque like lesions on shaft
-can proceed to invasive cancer |
|
Erythoplasi of Queyrat
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-presents as erythematous patch on glans
|
|
Bowenoid papulosis
|
-multiple reddish brown plaques on glans in the young
|
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Hydrocele
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-cause scrotal enlargement due to accumulation of serous fluid within tunica vaginalis
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hematocele
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-accumulation of blood
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Elephantiasis
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due to lymphatic obstruction
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Cryptochidism
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-failure of testicular descent in to scrotum
-1% |
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testicular Neoplasms
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-hCG is elevated in choriocarcinomas
-AFP is elevated in yolk sac tumors |
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Prostatitis
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-acute- caused by ecoli
-chronic-follows acute, causes recurrent UTI -caused by chlamydia -painful and a lot of urination |
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Nodular hyperplasia of the prostate
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-hyperplasiaof the traditional and central zones
-begins at 40 -DHT (hormone) is a stimulus -characterized by rubbery, nodular enlargment in the inner group of glands |
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Carcinoma of the prostate
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-second most common cancer in men
-peak 65-75 most common in blacks not in japanese -arises in peripheral zone -often silent -hard, fixed prostate -PSA is marker in blood |
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Syphilis
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-caused by treponema palladium
-primary stage-painless ulcer -2-rash on palms and soles -3-spreads.eats flesh,nose falls off, lesions(gumma) |
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Gonnorrhea
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-caused by neisseria gonorrhoeae
which appears as intracellular gram negative diplococci -acute purulent urethritis with 2-7 days after exposure -in females symptoms less prominent but leads to scarring and infertility |
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nongonococcal urethritis and cervitis
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-most common forms of STDs caused by chlamydia trachoma tis
-cause epididymitis and reiter syndrome |
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Human Papillomavirus Infection
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HSV1 and 2 cause genital infections
|
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vulvar dystrophies
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-group of disorders that present leukoplakia (white patch like lesion)
|
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Condylomas
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-anogenital warts
-2 forms- condomata lata- rare, occurs in secondary syphilis -condomata acuminata-assosiated with HPV |
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Vaginitis
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-inflammation
-candidal vaginitis-curdy white discard -trichomonal vaginitis-watery, gray green discharge. foul smelling -nonspecific atrophic vaginitis-dry vagina |
|
cervicitis
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-extremely common
-chlamydia trachomatis is most common |
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Cervical Intraepithelial Neoplasia CIN
|
precancerous lesion
-peak age 30 -follows HPV infection -early age inter-coarse and many partners |
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Invasive carcinoma or cervix
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-peak occurrence is 45
-related to HPV -risk factors same as CIN include smoking |
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Endometritis
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inflammation of endometrium
-acute- related to trauma, such as retention of placenta -chronic-abdominal pain, fever, infertility -characterized by endometrial glands and stoma not in place -chocolate cyst |
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menorrhagia
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prolonged bleeding
|
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Metrorrhagia
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irregular bleeding
|
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Ovulatory
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Occurring between the periods
|
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Endometrial polyps
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lesions 0.5-3 cm high in the fundus
-more common in menopause |
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Leiomyomas
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-benign firm tumors (called fibroids)
-30-50% in reproductive life |
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endometrial carcinoma
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-most common gynecologic malignancy
-55-66 -occurs in per menopausal women with estrogen excess -increased and prolonged estrogen stimulation |
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Fibrocystic disease
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-most common disorder of the breast
-most common cause of palpable breast mass -20-50 -characterized by lumpy breast with mid cycle tenderness -benign |
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Fibroadenoma
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-most common benign tumor in women younger that 25
-presents firm rubbery painless well circumscribed lesion |
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carcinoma of breast
|
-second most common malignancy of women
-1-8 women in US -positive family history -no children -prognosis- depends on tumor size |