Down Syndrome
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Terms in this set (116)
Gaucher-glucocerebrosides- Lysosomal storage disorder accumulate in the liver and spleen - MCNiemann Pick-sphingomyelin- Lysosomal storage disorder accumulation in the liver and brainAmino Acid disorders- phenylketonuria - alkaptonuriaPhynylkeotonuria- amino acid disorder - accumulation of phylaanine due to lack of PA hydroxylase -mental retardation - restrict dietary phenylalanine if the Guthrie test for PKA is positiveAlkaptonuria- amino acid disorder - deficiency of homogentisic acid - urine turns black on standing - dark damaged cartilage - ochronosisCystic fibrosis- metabolic disorder - autosomal recessive - defective Cl- transport - impaired mucociliary action and thick vicid secretions - recurrent infections in lunch and sinuses - salty sweatHemopoietic disorders- sickle cell anemia - sickle cell trait - thalassemiasickle cell disease- recessive - valine replaces glutamine - causes microvascular occlusion triggered by hypoxia, acidosis, fever - painful bones - anemia - jaundice - fatigue - hepatosplenomegaly - priapism - increased risk of salmonella osteomyelitis - increased risk of pneumococcal pneumonia - protects from plasmodium falciparum type of malariaSickle Cell Trait- autosomal dominant - asymptomatic unless severely stressedThalassemia- mediterranean descent (beta) - defect in either alpha or beta chains of hemoglobin A - suboptimal hemoglobin synthesis - anemia - fatigue - resistant to malaria parasiteRecessive sex linked disorders- Duchenne muscular dystrophy - Becker's muscular dystrophy - Hemophilia A or B - Lesch-Nyhan syndromeDuchenne muscular dystrophy- recessive sex-linked - total absence of dystrophin - progressive muscle weakness - psudohypertrophic calf muscles (fat and CT) - Gower' sign - climbing up the legs in order to stand upright - death - from cardiorespiratory issues before 20Becker's muscular dystrophy- recessive sex-linked trait - decreased levels of dystrophinHemophilia A or B- recessive sex-linked trait - lack of factor VIII [A] or factor IX [B] - hemarthrosis - bleeding in the jtsLesch-Nyhan syndrome- recessive sex-linked trait - lack of HGPRT - hypoxanthine guanine phosphoribosyl transferase is an enzyme in purine metabolism - gout in children - congenital pain insensitivity which leads to self-mutilationVitamin D resistant rickets- only dominant sex-linked disorder - aka: renal rickets or renal osteodystrophy - rickets that does not respond to vit D therapyBurkitt's lymphoma- starry-sky appearance - caused by epstein-barr virus - mc in childrenHodgkin's lymphoma- common in adults - Reed-sternberg cells - owl eye appearancePheochromocytoma- adrenal medulla tumor - secretes excess norepinephrine - characterized by paroxysms of palpitations, perspiration and pressure headachesWilms' tumor- mixed [mesenchymal, stromal, epthelial cells] tumor of the kidney - mc renal tumor in childrenMultiple Myelom- mc primary bone cancer in adults - malignant plasma cells in the bone marrow - M spike due to elevated IgG - Bence Jones protein in urine - nocturnal bone pain - recurrent infections due to improperly formed immunoglobulinsOsteosarcoma- MC primary bone cancer in children - knee joint, low femur, upper tibEwing Sarcoma- malignant bone tumor - mimics osteomyelitisUterine leiomyoma- most common benign smooth muscle tumor of the uterusLeukemia- blood malignancy - numerous immature WBCs4 types of leukemia:--> Acute Lymphoblastic Leukemia (ALL) - commonest leukemia in children under 5 --> Acute Myelogenous Leukemia (AML) - 80% of acute leukemias in adults; AUER RODS & MYELOPEROXIDASE (+) --> Chronic Myelogenous Leukemia (CML) - 30-60 yrs; Philadelphia chromosome, anemia, bleeding and recurrent infections --> Chronic Lymphocytic Leukemia (CLL) - >60; lymphadenopathy is commonOncogene BCR-ablPhiladelphia chromosome in chronic myelogenous leukemiaOncogene N-MYCneuroblastomaOncogene L-MYCLung cancerOncogene BRCA 1breast cancerOncogene p16melanomaNitrosamineesophageal caasbestosmesotheliomabenzeneleukemiaaflatoxinhepatocellular carcinomaUV lightmelanomxraythyroid cauraniumlung caHPV 16, 18cervical cancerHHV*kaposi sarcomaEpstein barr virusburkitt's lymphomahep B/Chepatocellular carcinomaTumor marker for choriocarcinomabeta-HCG (humanchorionic gonadotropinTumor marker for colon cancerCEA (carcinoembryonic antigenTumor marker for hepatocellular carcinomaAFP (alpha fetoprotein)tumor marker for prostate cancerPSA (prostate specific antigen)tumor marker for ovarian cancerCA-125Tumor marker for melanomaS-100Sumor marker for adenocarcinomaacanthosis nigricansAcanthosis nigricans- plaques in axilla, groin, neck - associated w/ lung, breast, stomach cancer - obesity and diabetesCommon sites of metastasis for the brainlung then breastcommon sites of metastasis for bonebreast then lungcommon site of metastasis for livercolon, stomach then pancreasMC cancers in males1. prostate 32% 2. lung 16% 3. colorectal 12%MC CA in F?1. breast 32% 2. lung 13% 3. colorectal 12%Most deadly ca in menlung then prostatemost deadly ca in Fbreast then lungRheumatic fever- post-strep infection - Aschoff bodies - MacCallum's patches in L atrium - Jones major criteria -Jones criteriaFor Rheumatic fever - Sydenham's chorea - polyarthritis - endocarditis - carditis - subcutaneous nodulesEndocarditis- inflammation of the endocardium affecting the valveswhat is endocarditis caused by1. strept pyogenes 2. strept viridans 3. staph aureusSubacute Bacterial endocarditis- sequele of rheumatic fever [s. viridans] - olser's nodes - janeway nodulesAcute Bacterial Endocarditis- intravenous druge users [staph aureus]Libman Sacks Endocarditis- pulmonary & tricuspid valves - SLESyphilitic aortitis- arch of aorta - treponema pallidum - aortic aneurysm - aortic stenosis - angina pectorisLines of Zahnseen in athlerosclerotic vessels with a thrombusIschemic heart disease- coronary athlerosclerosis - angina - MI - congestive heart failureAngina pectoris- reversible inadequately perfused myocardium - pain relieved by restPrinzmetal [variant] angina- at rest - caused by coronary artery spasmMI- ischemic necrosis of the myocardium due to blocked coronary artery, maily L anterior descending artery - P not relieved by rest - results in release of TROPONIN & CREATINE KINASE-MB (myocardial band) and LACTIC DEHYDROGENASEAtherosclerotic aneurysm- pulsatile abdominal mass - bruit - lbpdissecting aneurysm- intraluminal tearing - ascending thoracic aorta - Marfans - Elhers Danlos sydromessyphiltis aneurysm- arch of aortaberry aneurysm- congenital weaknesses - 3rd decade - ass'd w/ adult polycystic disease of the kidney - circle of willis - subarachnoid hemorrhage in young adults - presents w/ severe sudden ha, neck stiffness, loss of consciousnessRight ventricular hypertrophyaka - cor pulmonale due to: - copd - pulmonary embolismCardiac tamponade- heart cmpressed due to excess fluid or blood in pericardial sac - Beck's triadBeck's triadseen in cardiac tamponade - hypotension - heard sounds are distant - high venous pressureDVT- virchow's triad: 1. VISCOSITY-increasing clotting 2. STASIS in the veins from prolonged immobilization 3. DAMAGE to vessels wall due to trauma *** painful swollen legPulmonary embolism- DVT - embolus occludes one of the pulmonnary arteries - ventilation or perfusion mismatch - presents w/ shortness of breath, pleuritic chest pain, hemoptysisVaricose veins- tortuous dilated superficial veins - thrombophlebitisThrombophlebitis- inflammation of vein wall - leads to thrombus - swollen superficial cordRaynaud's disease- vasospasm [white] - cyanosis [blue] - vasodilation [red] - young FRaynaud's phenomeneon- secondary to SLE - athlerosclerosis - scleroderma CREST - Calcinosis cutis - Raynauds phenomenon - Esophageal dysfunction - Scleroderma - TelangiectasiaPolyarthritis nodosa- inflammation due to Type III hypersensitivity rxn - medium sized arteris - 30% (+) for Hep B - fever - jt and ab p - palpable purpuraThromboangitis obliteransaka Buerger's disease - male smokers - 20-40 - intermittent claudication - weakened distal pulsesTemporal arteritis- giant cell inflammation - elevated ESR - elderly - blindnessTayayasu's arteritisaka pulseless disease - inflammation of aorta - possible autoimmune - asian f - >40 yo - absent pulses - upper limbsWhat has brown bone cysts?- hyperparathyroidismChvostek test can be positive for what disorder?hypoparathyroidismAddison's disease- low Na - low bp - high K - high ACTH - assoc'd w/ tbWaterhouse-Friderichsen Syndrome- acute adrenal bleeding secondary to Neisseria meningitidis septicemia - shock and hemorrhagic rashConn's disease- overfunctioning zona glomerulosa - adrenal adenoma - excess mineralocorticoids - low K - low renin - metabolic alkalosis - high bpCongenital adrenal hyperplasia- deficiency in the 21-hydroxylase enzyme - excess androgen production and virilizaton of female infantNeuroblastoma- mc adrenal medulla tumor in children associated with the N-myc oncogenepheochromocytomaadrenal medulla tumor - palpitations - perspiration - pressure ha - periodic hypertensionZollinger-Ellison Syndrome- gastrinoma - excess gastrin from benign GI tumorAchalasion- failure of lower esophageal sphincter to relax - dysphagia for fluids not solidsesophageal varicesdilated veins in lower esophagus seen in portal hypertensionmallory-weiss syndrome- linear tear in lower esophagus due to protracted vomiting with retchingTroisier's signseen in gastric carcinoma... vichow's node in L supraclavicular fossaMeckel's diverticulumremnant of vitelline ductMcBurney's pointappendicitiesHirschsprung's diseasearrest of neural crest cell migration; aganglionosis of colonCirrhosis- chronic liver condition - portal hypertension - caput medusaereye's syndrome- childhood hepatoencephalopathy caused by aspirin in childrenhepatocarcinoma- aka malignant hepatoma - hep C, cirrhosis, raised alpha-fetoprotein - fungal [aspergillus] aflatoxin