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146 Cards in this Set
- Front
- Back
Addison’s Disease
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Primary adrenocortical deficiency
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Addisonian Anemia
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Pernicious anemia (antibodies to intrinsic factor or parietal cells ® ¯IF ® ¯Vit B12 ® megaloblastic anemia)
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Albright’s Syndrome
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Polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
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Alport’s Syndrome
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Hereditary nephritis with nerve deafness
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Alzheimer’s
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Progressive dementia
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Argyll-Robertson Pupil
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Loss of light reflex constriction (contralateral or bilateral)
“Prostitute’s Eye” – accommodates but does not react Pathognomonic for 3°Syphilis Lesion pretectal region of superior colliculus |
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Arnold-Chiari Malformation
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Cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
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Barrett’s
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Columnar metaplasia of lower esophagus ( risk of adenocarcinoma)- constant gastroesophageal reflux
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Bartter’s Syndrome
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Hyperreninemia
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Becker’s Muscular Dystrophy
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Similar to Duchenne, but less severe (mutation, not a deficiency, in dystrophin protein)
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Bell’s Palsy
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CNVII palsy (LMN palsy) (entire face; recall that UMN lesion only affects lower face)
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Berger’s Disease
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IgA nephropathy causing hematuria in kids, usually following infection
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Bernard-Soulier Disease
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Defect in platelet adhesion
Gp1b deficiency (receptor for vWF) Prolonged bleeding time, thrombocytopenia, giant platelets, and decreased plaetelet survival |
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Berry Aneurysm
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Circle of Willis (subarachnoid bleed) Anterior Communicating artery
Often associated with ADPKD |
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Bowen’s Disease
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Carcinoma in situ on shaft of penis ( risk of visceral ca) [compare w/ Queyrat]
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Brill-Zinsser Disease
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Recurrences of rickettsia prowazaki up to 50 yrs later
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Briquet’s Syndrome
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Somatization disorder
Psychological: multiple physical complaints without physical pathology |
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Broca’s Aphasia
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Motor Aphasia (area 44 & 45) intact comprehension
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Brown-Sequard
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Hemisection of cord
-The corticospinal lesion produces spastic paralysis on the same side of the body (the loss of moderation by the UMN). -The lesion to fasciculus gracilis or fasciculus cuneatus results in ipsilateral loss of vibration and proprioception (position sense). -The loss of the spinothalamic tract leads to pain and temperature sensation being lost from the contralateral side beginning one or two segments below the lesion. |
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Bruton’s Disease
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X-linked agammaglobinemia (¯ B cells)
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Budd-Chiari
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Post-hepatic venous thrombosis = ab pain; hepatomegaly; ascites; portal HTN; liver failure
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Buerger’s Disease
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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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Burkitt’s Lymphoma
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Small noncleaved cell lymphoma EBV
8:14 translocation Seen commonly in jaws, abdomen, retroperitoneal soft tissues Starry sky appearance |
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Caisson Disease
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Nitric gas emboli
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Chagas’ Disease
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Trypansoma infection - cardiomegaly with apical atrophy, achlasia
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Chediak-Higashi Disease
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(AR) Phagocyte Deficiency = defect in microtubule polymerization
Neutropenia, albinism, cranial & peripheral neuropathy & repeated infections w/ strep & staph |
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Conn’s Syndrome
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Primary Aldosteronism: HTN; retain Na+ & H2O; hypokalemia (causing alkalosis); ¯ renin
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Cori’s Disease
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Type III Glycogenosis – Glycogen storage disease (debranching enz: amylo 1,6 glucosidase def. Glycogen)
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Creutzfeldt-Jakob
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Prion infection ® cerebellar & cerebral degeneration
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Crigler-Najjar Syndrome
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Congenital hyperbilirubinemia (unconjugated)
Glucuronyl transferase deficiency. Can progress to Kernicterus Less severe form will respond to Phenobarbital therapy |
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Crohn’s
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IBD; ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, colon cancer risk) Clinically: ab pain & diarrhea; fever; malabsorption; fistulae b/t intestinal loops & abd structures |
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Curling’s Ulcer
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Acute gastric ulcer associated with severe burns
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Cushing’s
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Disease: Hypercorticism 2° to ACTH from pituitary (basophilic adenoma)
Syndrome: hypercorticism of all other causes (1° adrenal or ectopic) Moon face; buffalo hump; purple striae; hirsutism; HTN; hyperglycemia |
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Cushing’s Ulcer
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Acute gastric ulcer associated with CNS trauma
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de Quervain’s Thyroiditis
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Self-limiting focal destruction (subacute thyroiditis)
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DiGeorge’s Syndrome
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Failure of 3rd & 4th pharyngeal pouches formation: Thymus, Parathyroid
Thymic hypoplasia and T-cell deficiency Hypoparathyroidism produces tetany |
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Down’s Syndrome
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Trisomy 21 or translocation – Simian Crease
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Dressler’s Syndrome
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Post-MI Fibrinous Pericarditis autoimmune
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Dubin-Johnson Syndrome
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Congenital hyperbilirubinemia (conjugated)
Defective transport of conjugated bilirubin into bile Striking brown-to-black discoloration of the liver |
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Duchenne Muscular Dystrophy
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Deficiency of dystrophin protein ® MD X-linked recessive
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Edwards’ Syndrome
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Trisomy 18
Rocker-bottom feet, low ears, small lower jaw, heart disease |
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Ehler’s-Danlos
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Autosomal dominant
Defective Type III collagen |
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Eisenmenger’s Complex
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Late cyanotic shunt (R®L) pulmonary HTN & RVH 2° to long-standing VSD, ASD, or PDA
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Erb-Duchenne Palsy
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Trauma to superior trunk of brachial plexus
Waiter’s Tip |
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Ewing Sarcoma
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Malignant undifferentiated round cell tumor of bone in boys <15yoa - t11;22
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Eyrthroplasia of Queyrat
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Carcinoma in situ on glans penis
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Fanconi’s Syndrome
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Impaired proximal tubular reabsorption 2° to lead poisoning or expired tetracycline, tenofovir (in cases of pre-existing renal impairment)
Produces glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis, hypokalemia |
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Felty’s Syndrome
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Rheumatoid arthritis, neutropenia, splenomegaly
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Gardner’s Syndrome
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Autosomal dominant
Familial form of colonic polyposis Also, presence of extracolonic tumors, including osteomas of skull, thyroid cancer, epidermoid cysts, fibromas |
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Gaucher’s Disease
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Lysosomal Storage Disease glucocerebrosidase deficiency – glucocerebroside accumulation
Hepatosplenomegaly, femoral head & long bone erosion, anemia |
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Gilbert’s Syndrome
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Benign congenital hyperbilirubinemia (unconjugated) = decreased glucuronyl transferase activity
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Glanzmann’s Thrombasthenia
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Defective glycoproteins on platelets = deficient platelet aggregation
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Goodpasture’s
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Autoimmune: ab’s to glomerular & alveolar basement membranes. Seen in men in their 20’s
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Grave’s Disease
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Autoimmune hyperthyroidism (TSI): IgG Ab reactive w/ TSH receptors. Low TSH & TRH – High T3 / T4
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Guillain-Barre
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Polyneuritis following viral infection/ autoimmune (ascending muscle weakness & paralysis; usually self-limiting)
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Hamman-Rich Syndrome
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Idiopathic pulmonary fibrosis. Can see honey comb lung.
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Hand-Schuller-Christian
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Chronic progressive histiocytosis
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Hashimoto’s Thyroiditis
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Autoimmune hypothyroidism. May have transient hyperthyroidism. Low T3 /T4 & High TSH
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Hashitoxicosis
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Initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
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Henoch-Schonlein purpura
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Hypersensivity vasculitis = allergic purpura. Lesions have the same age.
Hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement) Associated with upper respiratory infections |
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Hirschprung’s Disease
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Aganglionic megacolon
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Horner’s Syndrome
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Ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
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Huntington’s (Chromosome 4)
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Autosomal dominant
Chromosome 4 Progressive degeneration of caudate nucleus, putamen (striatum), and frontal cortex Increased GABA |
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Jacksonian Seizures
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Epileptic events originating in the primary motor cortex (area 4)
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Job’s Syndrome
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Immune deficiency: neutrophils fail to respond to chemotactic stimuli
Defective neutrophilic chemotactic response = repeated infections Commonly seen in light-skinned, red-haired girls ’d IgE levels |
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Kaposi Sarcoma
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Malignant vascular tumor (HHV8 in homosexual men)
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Kartagener’s Syndrome
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Immotile cilia 2° to defective dynein arms infection, situs inversus, sterility
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Kawasaki Disease
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Mucocutaneous lymph node syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
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Klinefelter’s Syndrome
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47, XXY: Long arms, Sterile, Hypogonadism
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Kluver-Bucy
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Bilateral lesions of amygdala (hypersexuality; oral behavior)
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Krukenberg Tumor
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Adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
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Laennec’s Cirrhosis
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Alcoholic cirrhosis
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Lesch-Nyhan
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HGPRT deficiency
Gout, retardation, self-mutilation |
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Letterer-Siwe
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Acute disseminated Langerhans’ cell histiocytosis
Typically occurs before age 2 Langerhans proliferation and infiltration of skin, liver, lungs, bone marrow |
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Libman-Sacks
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Endocarditis with small vegetations on valve leaflets
Associated with SLE |
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Lou Gehrig’s
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Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
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Mallory-Weis Syndrome
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Bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
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Marfan’s
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Connective tissue defect
Mutation in fibrillin gene Dissecting aortic aneurysm, subluxation of lenses, mitral valve prolapse, tall stature, arachnydactyly, cystic medial degeneration of aorta leading to aortic ring dilatation |
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McArdle’s Disease
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Type V Glycogenosis - Glycogen storage disease (muscle phosphorylase deficiency = Glycogen)
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Meckel’s Diverticulum
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Rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
Embryonic duct origin; may have ectopic tissue: gastric/pancreatic remnant of vitteline duct/yolk stalk |
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Meig’s Syndrome
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Triad: ovarian fibroma, ascites, hydrothorax – associated w/ fibroma of ovaries
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Menetrier’s Disease
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Giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
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Monckeberg’s Arteriosclerosis
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Calcification of the media (usually radial & ulnar aa.)
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Munchausen Syndrome
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Factitious disorder (consciously creates symptoms, but doesn’t know why)
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Nelson’s Syndrome
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1° Adrenal Cushings
Surgical removal of adrenals Loss of negative feedback to pituitary Pituitary Adenoma |
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Niemann-Pick
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Lysosomal Storage Disease (sphingomyelinase deficiency – sphingomyelin accumulation)
“Foamy histiocytes” |
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Osler-Weber-Rendu Syndrome
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Hereditary Hemorrhagic Telangiectasia. Seen in the Mormon’s of Utah.
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Paget’s Disease
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Abnormal bone architecture (thickened, numerous fractures ® pain)
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Pancoast Tumor
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Bronchogenic tumor with superior sulcus involvement ® Horner’s Syndrome
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Parkinson’s
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Dopamine depletion in nigrostriatal tracts
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Peutz-Jegher’s Syndrome (AD)
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Autosomal dominant
Sporadic hamartomatous mucosal polyps of small intestine and colon Melanotic pigmentation of mucosal and skin surfaces Increased risk of carcinomas (pancreas, breast, lung, uterus, ovary) |
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Peyronie’s Disease
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Subcutaneous fibrosis of dorsum of penis
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Pick’s Disease – 2 Different Diseases -
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1. Progressive dementia similar to Alzheimer’s
2. Constrictive pericarditis – sequel to mediastinal tuberculosis Calcium-frosting, unyielding layer – heart chambers may be unable to dilate to receive blood during diastole |
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Plummer’s Syndrome
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Hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)
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Plummer-Vinson
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Esophageal webs and iron-deficiency anemia
Spoon-shaped nails Increased risk of SCC of esophagus |
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Pompe’s Disease
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Type II Glycogenosis – Glycogen storage disease ® cardiomegaly (a 1,4 Glucosidase deficiency: Glycogen)
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Pott’s Disease
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Tuberculous osteomyelitis of the vertebrae
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Potter’s Complex
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Renal agenesis
Oligohydramnios Hypoplastic lungs Defects in extremities |
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Raynaud’s
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Disease: recurrent vasospasm in extremities = seen in young, healthy women
Phenomenon: 2° to underlying disease (SLE or scleroderma) |
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Reiter’s Syndrome
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Urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
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Reye’s Syndrome
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Microvesicular fatty liver change & encephalopathy
2° to aspirin ingestion in children following viral illness, especially VZV |
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Riedel’s Thyroiditis
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Idiopathic fibrous replacement of thyroid
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Rotor Syndrome
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Congenital hyperbilirubinemia (conjugated)
Similar to Dubin-Johnson, but no discoloration of the liver |
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Sezary Syndrome
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Leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
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Shaver’s Disease
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Aluminum inhalation ® lung fibrosis
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Sheehan’s Syndrome
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Postpartum pituitary necrosis = hemorrhage & shock usually occurred during delivery
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Shy-Drager
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Parkinsonism with autonomic dysfunction & orthostatic hypotension
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Simmond’s Disease
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Pituitary cachexia – can occur from either pituitary tumors or Sheehan’s
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Sipple’s Syndrome
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MEN type IIa = pheochromocytoma, thyroid medullary CA, hyperparathyroidism
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Sjogren’s Syndrome
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Triad: dry eyes, dry mouth, arthritis risk of B-cell lymphoma
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Spitz Nevus
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Juvenile melanoma (always benign)
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Stein-Leventhal
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Polycystic ovary: see amenorrhea; infertility; obesity; hirsutism = LH secretion
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Stevens-Johnson Syndrome
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Erythema multiforme, fever, malaise, mucosal ulceration (often 2° to infection = mycoplasma or sulfa drugs)
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Still’s Disease
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Juvenile rheumatoid arthritis (absence of rheumatoid factor)
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Takayasu’s arteritis
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Aortic arch syndrome
Loss of carotid, radial or ulnar pulses = pulseless disease. Night sweats. Common in young Asian females |
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Tay-Sachs (AR)
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Gangliosidosis (hexosaminidase A deficiency ® GM2 ganglioside) Cherry Red Spots of the Macula
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Tetralogy of Fallot
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1.VSD, 2.overriding aorta, 3.pulmonary artery stenosis, 4.right ventricular hypertrophy
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Tourette’s Syndrome
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Involuntary actions, both motor and vocal Txt w/ Pimozide
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Turcot’s Syndrome
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Colon adenomatous polyps plus CNS tumors
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Turner’s Syndrome
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45, XO = most common cause of Primary Amenorrhea. No Barr body on buccal smear.
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Vincent’s Infection
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“Trench mouth” – acute necrotizing ulcerative gingivitis due to Fusobacterium
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Von Gierke’s Disease
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Type I Glycogenosis – Glycogen storage disease (G6Ptase deficiency) – Glycogen accumulaiton
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Von Hippel-Lindau
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Hemangioma (or hemangioblastoma) = cerebellum, brain stem, & retina
Adenomas of the viscera, especially Renal Cell Carcinoma Chromosome 3p |
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Von Recklinghausen’s
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Neurofibromatosis & café au lait spots & Lisch nodules (Chromosome 17)
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Von Recklinghausen’s Disease of Bone
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Osteitis fibrosa cystica (“brown tumor”) 2° to hyperparathyroidism = osteoclastic resorption w/ fibrous replacement
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Von Willebrand’s Disease (AD)
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Defect in platelet adhesion 2° to deficiency in vWF. aPPT, Bleed time
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Waldenstrom’s macroglobinemia
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Proliferation of IgM-producing lymphoid cells in men 50-70 yoa; PAS(+) Dutcher bodies
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Wallenberg’s Syndrome
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Posterior Inferior Cerebellar Artery (PICA) thrombosis “Medullary Syndrome”
Ipsilateral: ataxia, facial pain & temp; Contralateral: body pain & temp |
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Waterhouse-Friderichsen
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Adrenal insufficiency 2° to DIC
DIC 2° to meningiococcemia |
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Weber’s Syndrome
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Paramedian Infarct of Midbrain
Ipsilateral: mydriasis; Contralateral: UMN paralysis (lower face & body) |
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Wegener’s Granulomatosis
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c-ANCA
Necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys, etc. Necrotizing vasculitis of small-and medium-sized vessels |
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Weil’s Disease
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Icteric Leptospirosis non-icteric prgresses to renal failure & myocarditis
Dark field microscopy for dx |
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Wermer’s Syndrome
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MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
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Wernicke’s Aphasia
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Sensory Aphasia impaired comprehension
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Wernicke-Korsakoff Syndrome
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Thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleua) (confusion, ataxia, ophthalmoplegia)
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Whipple’s Disease
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Malabsorption syndrome (with bacteria-laden macrophages) & polyarthritis
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Wilson’s Disease
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Hepatolenticular degeneration (copper accumulation [Txt w/ Penicillamine ] & decrease in ceruloplasmin)
Mallory Bodies in the Liver & also w/ alcoholic hepatitis & Hyaline change Chromosome 13 |
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Wiskott-Aldrich Syndrome
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X-linked recessive
Combined B and T cell immunodeficiency Immunodeficiency, (thrombocytopenia; eczema Decreased IgM w/ Increased IgA |
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Wolff-Chaikoff Effect
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High iodine level (-)’s thyroid hormone synthesis
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Zenker’s Diverticulum
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Esophageal; cricopharyngeal muscles above UES
Increased pressure and traction in the lower esophagus results in protrusion of esophageal wall through muscles posterior to esophagus Manifestations include regurgitation, dysphagia, sense of lump in throat, halitosis, gurgling noises when swallowing |
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Zollinger-Ellison
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Gastrin-secreting tumor of pancreas (or intestine)
Leads to excess gastric acid production and recurrent ulcers |
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Roger’s Disease
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Interventricular septal defect
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Barlow’s Syndrome
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Floppy vale syndrome – women b/t 20-40 yoa
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Bracht-Wachter Lesions
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Minute abscesses found in subacute bacterial endocarditis
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Lutembacher’s Syndrome
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Combination of septum secundum atrial septal defect w/ mitral stenosis
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Schmidt’s Syndrome
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Autoimmnue thyroid Disease (Hashimoto’s ) & insulin-dependent diabetes
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