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72 Cards in this Set
- Front
- Back
Addisons Disease |
primary adrenocortical deficiency |
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Addisonian Anemia |
pernicious anemia (antibodies to intrinsic factor or parietal cells. = dec IF = dec VitB12=megaloblastic anemia) |
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Albrights Syndrome |
Polyostotic Fibrous Dysplasia, precocious puberty, cafe au lait spots, short stature, Young girls. |
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Alports Syndrome |
hereditary nephritis with nerve deafness |
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Alzheimers |
progressive dimentia |
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Argyll-Robertson Pupil |
Neuro Syphilis (tertiary) "prostitute pupil"- accommodates but does not react. lesion pretectal region of superior colliculus |
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Arnold - Chiari Malformation |
cerebellar tonsil herniation through foramen magnum |
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Barrets Esophagus |
columnar metaplasia of lower esophagys (inc. risk of adenocarcinoma) constant gastroesophageal reflux |
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Bartters Syndrome |
Hyperreninemia |
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Beckers Muscular dystrophy |
X linked missense mutation in dystrophin most common in young boys w/ progressive muscle weakness less severe than Duchennes |
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Bells Palsy |
CN7- Facial nerve one sided facial drooping including forehead |
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Bergers Disease |
IgA Nephropathy Hematuria in Kids (usually after infection) |
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Bernard Soulier Disease |
Autosomal recessive Bleeding disorder defect in platelette ADHESION lack of platelet surface glycoprotein (von Willebrand factor) epistaxis,easy bruising, bleeding gums. |
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Berry Aneurism |
Circle of Willis-Anterior communicating artery Assoc. w/ ADPKD (autosomal dom. polycystic Kidney disease) |
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Bowens Disease |
carcinoma in situ on shaft of penis |
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Brill Zinsser Disease |
recurrences of rickettsia prowazaki up to 50 yrs later |
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Briquets Syndrom |
Somatization disorder Psychological: multiple physical complaints without physical pathology |
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Brocas Aphasia |
motor aphasia (area 44 & 45) intact comprehension |
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Brown-Sequard syndrome |
hemisection of cord (damage to one half of spinal cord)- Dorsal column medial lemniscus contralateral loss of pain & temp ipsilateral loss of fine touch, UMN / ipsi. loss of consc. proprioception |
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Brutons Disease |
X linked agammaglobinemia (↓ B cells) Recurrent respiratory infections in child Immunosuppressant |
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Budd - Chiari |
Post-hepatic venous thrombosis = abdominal pain; hepatomegaly; ascites; portal HTN; liver failure. |
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Buergers Disease |
Acute inflammation of medium and small arteries of extremities → painful ischemia → gangrene Seen almost exclusively in young and middle-aged men who smoke. |
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Burkitts Lymphoma |
Small non cleaved cell lymphoma EBV 8:14 translocation Seen commonly in jaws, abdomen, retroperitoneal soft tissues "Starry sky" appearance |
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Decompression Sickness AKA Caisson Disease |
Nitric gas emboli "the bends" |
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Chagas Disease |
Trypanosoma infection Cardiomegaly w/ atypical atrophy achalasia |
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Chediak-Higashi Disease |
Aut.Rec. Phagocyte def. = defect in microtubule polymerization Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph |
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Conns Syndrome |
Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ↓ renin |
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Cori's Disease |
Type III - Glycogen storage disease (de-branching enz: amylo 1,6 glucosidase def.= ↑ Glycogen) Infant w/ hypoglycemia & failure to thrive, Hepatomegaly (Early) Hypotonia, Cardiomyopathy (later) |
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Creutzfeldt-Jakob disease |
Prion infection → cerebellar & cerebral degeneration Fatal- Brain lesions "sponge like" |
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Crigler-Najjar Syndrome |
Congenital hyperbilirubinemia (unconjugated) Glucuronyl transferase deficiency. Can progress to Kernicterus Less severe form will respond to Phenobarbital therapy |
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Crohns Disease |
IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas Clinically: abd pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures |
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Ulcerative Colitis |
IBD: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ↑ colon cancer risk |
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Curlings Ulcer |
Acute gastric ulcer assoc. w/ sever burns reduced plasma volume leads to ischemia and cell necrosis of the gastric mucosa. |
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Cushings Disease/Syndrome |
Disease: Hypercortisolism 2° to ↑ ACTH from pituitary adenoma (basophilic) Syndrome: hypercortisolism of all other causes (1° adrenal or ectopic) - moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia |
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Cushings Ulcer |
acute gastric ulcer assoc. w/ CNS trauma |
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de Quervains THYROIDITIS |
Giant Cell thyroiditis self limiting focal destruction (subacute thyroiditis) caused by upper resp. tract infec. (vrial) Coxsackie, mumps, adenovirus |
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DiGeorge Syndrome |
22q11.2 deletion Failure of 3rd & 4th pharyngeal pouches formation T-cell deficiency Cardiac abnormality (especially tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcemia/Hypoparathyroidism |
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Downs Syndrome |
Trisomy 21 Single palmar crease (Simian crease) |
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Dresslers Syndrome |
Post MI inflammatory Pericarditis (autoimmune) |
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Dubin Johnsons Syndrome |
Aut.Recs. Congenital hyperbilirubinemia (conjugated) = bilirubin transport is defective Striking brown-to-black discoloration of the liver caused by polymerized epinephrine metabolites. |
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Duchenne Muscular Dystrophy |
Deficiency of dystrophin protein → MD X-linked recessive |
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Edwards Syndrome |
Trisomy 18 Rocker-bottom feet, low ears, small lower jaw, heart disease (VSD,ASD,PDA), clenched hands |
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Ehlers Danlos Syndrome |
Elastic skin, hypermobility of joint, incr bleeding tendancy. Type V collagen defect (type III seen in vascular subtype) |
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Eisenmenger's complex/Syndrome |
Late cyanotic shunt (R→L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA Cyanosis, Incr RBC, clubbed fingers |
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Erb–Duchenne palsy |
Trauma to superior trunk of brachial plexus (C5-C6 nerves) "Waiter's Tip" abnormal or difficult childbirth or labor |
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Ewing Sarcoma |
Malignant undifferentiated round cell tumor of bone in boys <15y/o t11;22 |
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Erythroplasia of Queyrat |
Squamous cell carcinoma in situ on glans penis assoc. w/ HPV16 uncircumcised males over 40 |
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Fanconi Syndrome |
Renal tubular Acidosis Impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline glycosuria,hypophosphatemia/phosphaturia, aminoaciduria, systemic acidosis) |
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Feltys Syndrome |
Rheumatoid arthritis, neutropenia, splenomegaly 50-70 y/o white females |
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Gardeners Syndrome |
Auto.Dom Adenomatous polyps of colon, osteomas & soft tissue tumors supernumerary teeth |
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Gauchers disease |
MOST COMMON Lysosomal Storage Disease; glucocerebrosidase deficiency = glucocerebroside accumulation Painless hepatosplenomegaly, Osterporosis Aseptic necrosis of femoral head & long bone(erlenmyer flask), anemia |
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Gilberts syndrome |
Benign congenital hyperbilirubinemia (unconjugated) = ↓d glucuronyl transferase activity mild jaundice under exertion |
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Glanzmanns Thrombasthenia |
Rare bleeding disorder (coagulopathy) Defective glycoproteins (GpIIb/IIIa) on platelets = deficient platelet aggregation |
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Goodpastures Syndrome |
Autoimmune: antibody to glomerular & alveolar basement membranes. Seen in men ~20 y/o coughing up blood, malaise, weight loss, fatigue, fever, hematuria |
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Graves Disease |
Exophthalmos, enlarged thyroid (Goiter) Autoimmune hyperthyroidism (TSI): IgG Antibody reactive w/ TSH receptors. Low TSH & TRH High T3 / T4 poor tolerance of heat, pretibial myexdema(shin skin thickening) |
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Guillain-Barre Syndrome |
Polyneuritis following viral infection/ autoimmune destruction of myelin sheath (ascending muscle weakness & paralysis; usually self-limiting) |
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Hamman-Rich Syndrome |
Acute interstitial pneumonitis. "honey comb" lung x-ray(diffuse alveolar damage) highly productive cough with thick mucus |
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Hand-Schuller-Christian disease |
Multifocal Langerhans cell histiocytosis Exophthalmous, lytic bone lesions(skull), Diabetes Insipidus, enlarged lymph nodes |
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Hashimoto Thyroiditis |
(Autoimmune) Primary hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH Lymphocytic infiltration common hypothyroid symptoms TPO blood test |
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Henoch-Schonlein purpura |
Systemic vasculitis (diffuse rash on most of the body) "classic triad" Palpable purpura most common in children, Arthritis and abdominal pain. |
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Hirschprungs Disease |
congenital aganglionic megacolon Incomplete neural crest cell migration Seen shortly after birth; baby fails to pass the first stool (meconium) within 48 hours of delivery. |
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Horners Syndrome |
Sympathetic ganglion chain lesion Ptosis, miosis, anhidrosis often 2° to a Pancoast tumor |
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Huntingtons Disease |
Aut.Dom caudate nucleus atrophy, ↑Dopamine ↓ GABA ↓ACh Chorea, dementia chromosome 4 |
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Hyper IgE/Jobs Syndrome |
Immune deficiency Defective neutrophilic chemotactic response = repeated infections Commonly seen in light-skinned, red-haired girls. ↑ IgE levels |
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Kaposi Sarcoma |
Red, purple blotches usually palpable Usually found on ski, mouth, gastrointestinal tract and respiratory tract Malignant tumor (HHV8 in homosexual men) most common in AIDS |
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Kartageners Syndrome |
Immotile cilia (dyenin arm defect) Recurrent infections,Situs inversus, sterility |
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Kawasaki Disease |
"Strawberry tongue" mucocutaneous lymph node syndrome in kids under 5y/o ,AutoImm. medium size blood vessel inflammation. High persistent fever unresponsive to medicine Bilateral conjunctival inflammation |
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Klinefelters Syndrome |
47, XXY: Long arms, Sterile, Hypogonadism |
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Kluver-Bucy Syndrom |
Bilateral amygdaloid lesion Hypersexuality, Hyperorality, docility |
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Krukenberg Syndrome |
Metastasized malignancy of the ovaries from: Adenocarcinoma with signet-ring cells (typically originating from the stomach) |
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Lesch-Nyhan Syndrome |
HGPRT deficiency Gout, retardation, self-mutilation (mainly young boys) X linked recs. |
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Libman-Sacks Endocarditis |
NonBacterial Endocarditis with small vegetations on valve leaflets Associated with SLE |