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155 Cards in this Set
- Front
- Back
primary adenocortical deficiency
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addison's disease
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pernicious anemia (antibodies to intrinsic factor or parietal cells --> decreased IF--> decreased Vit B12--> megaloblastic anemia
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addisonian anemia
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polyostotic fibrous dysplasia, precocious puberty, cafe-au-lait spots, short stature, young girls
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albright's syndrome
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hereditary nephritis with nerve deafness
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alport's syndrome
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progressive dementia
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alzheimer's
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*loss of light reflex constriction (contralater or bilateral), * prostitutes eye - accomodation but does not react, * pathognomonic for tertiary syphilis, *lesion pretectal region of the superior colliculus
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argyll-robertson pupil
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cerebellar tonsil herniation through foramen magnum = see thoracolumbar meningomyelocele
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Arnold-Chiari malformation
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columnar metaplasia of lower esophagus (increased risk of adenocarcinoma) constant gastroesophageal reflux
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barrett's esophagus
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hyperreninemia
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Bartter's syndrome
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similar to Duchenne, but less severe (mutation not a deficiency in dystrophin protein)
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Becker's Muscular Dystrophy
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CN 7 palsy (entire face, recall that UMN lesion only affect the lower face)
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Bell's palsy
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IgA nephropathy causing hematuria in kids usually following infection
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Berger's disease
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defect in platelet adhesion (abnormally large platelets and lack of platelet surface glycoprotein)
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Bernard Soulier Disease
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circle of willis (subarachnoid bleed) anterior communicating artery, often associated with ADPKD
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berry aneurysm
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recurrences of rickettsia prowazaki up to 50 years later
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Brill-Zinsser disease
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somatoization disorder, psychological multiple physical complaints without physical pathology
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Briquet's syndrome
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motor aphasia (area 44 and 45) intact comprehension
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Broca's aphasia
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hemisection of cord (contralateral loss of pain and temp/ ipsilateral loss of fine touch, UMN/ ipsilateral loss of conscious proprioception
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Brown-Sequard
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X linked agammaglobinemia (decreased B cells)
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Bruton's disease
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post hepatic venous thrombosis = abdominal pain, hepatomegaly, ascites, portal HTN, liver failure
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Budd-Chiari
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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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Buerger's disease
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small nocleaved cell lymphoma (EBV), 8:14 translocation, seen commonly in jaws, abdomen, retroperitoneal soft tissues, starry sky appearance
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Burkitt's lymphoma
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nitric gas emboli
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Caisson disease
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trypansoma infection-cardiomegaly with apical atrophy, achalasia
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chagas disease
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Autosomal recessive, phagocyte deficiency = defect in microtubule polymerization, neutropenia, albinism, cranial and peripheral neuropathy and repeated infections with strep and Staph
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Chediak-Higashi disease
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primary aldosteronism: HTN, retian Na+ and H2O, hypOkalemia (causing alkalosis) and decreased renin
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Conn's syndrome
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type III glycogenosis-glycogen storage disease (debranching enzyme:amylo1,6glucosidase deficiency. increased glycogen)
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Cori's disease
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prion infection --> cerebellar and cerebral degeneration
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Creutzfeldt-Jakob
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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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Crigler-Najjar Syndrome
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IBD, Ileocecum, transmural, skip lesions, cobblestones, lymphocytic infiltrate, granulomas, (contrast to UC: limited to colon, mucosa and submucosa, crypt abscesses, pseudopolyps, increased colon cancer risk) clinically presents with abdominal pain and diarrhea, fever, malabsorption, fistuale btw intestinal loops and abd structures
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crohn's
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acute gastric ulce associated with severe burns
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Curling's ulcer
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disease: hypercorticism secondary to increased ACTH form pituitary (basophilic adenoma), syndrome: hypercorticism of all other causes (primary adrenal or ectopic), -->moon face; buffalo hump, purple striae, hirsutism, HTN, hyperglycemia
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Cushing's
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acute gastric ulcer associated with CNS trauma?
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Cushing's Ulcer
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self limiting focal destruction (subacute thyroiditis)
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de Quervain's Thyroiditis
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fail;ure of the 3rd and 4th pharyngeal pouches to form: thymus & parathyroid, thymic hyperplasia -->T cell deficiency, hypoparathyroidism --> tetany
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DiGeorge's Syndrome
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trisomy 21 or translocation, simian crease
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Down's syndrome
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post MI fibrinous pericarditis (autoimmune)
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Dressler's syndrome
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congenital hyperbilirubinemia (conjugated) =bilirubin transport is defective not conjugation, striking brown to black discoloration of the liver
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Dubin-Johnson Syndrome
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deficiency of dystrophin protein --> MD (X linked recessive)
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Duchenne Muscular Dystrophy
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trisomy 18, rocker bottom feet, low ears, small lower jaw, heart disease
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Edward's Syndrome
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defective collagen
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ehler's danlos
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late cyanotic shunt (R --> L) pulmonary HTN and RVH secondary to long standing VSD, ASD or PDA
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Eisenmenger's complex
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trauma to superior trunk of brachial plexus (waiter's tip)
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Erb-Duchenne Palsy
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malignant undifferentitated round cell tumor of bone in boys ( <15 years - translocation 11;22
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Ewing Sarcoma
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carcinoma in situ on glans penis
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Erythroplasia of Queyrat
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impaired proximal tubular reabsorption secondary to lead poisoning or Tetracycline (glycosuria, hperphosphaturia, aminoaciduria, systemic acidosis)
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fanconi's syndrome
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rheumatoid arthritis, neutropenia, splenomegaly?
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felty's syndrome
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autosomal dominant, adenomatous polyps of colon, osteomas, and soft tissue tumors
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Gardner's syndrome
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lysosomal stroage disease (glucocerebrosidase deficiency - glucocerebroside accumulation), hepatosplenomegaly, femoral head an dlong bone erosion, anemia
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Gaucher's disease
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benign congenital hyperbilirubinemia (unconjugated) = decreased d glucuronyl transferase activity
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Gilbert's syndrome
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defective glycoproteins on platelets = deficient platelet aggregation
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Glanzmann's thrombasthenia
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autoimmune: antibodies to glomerular and alveolar basement membranes. seen in men in their 20's
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Goodpasture's
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autoimmune hyperthyroidism (TSI): IgG Ab reacitve with TSH receptors. Low TSH and TRH - High T3 and T4
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Grave's disease
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polyneuritis following viral infection / autoimmune (ascending muscle weakness and paralysis usually self limiting)
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Guillain-Barre
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idiopathic pulmonary fibrosis. can see honey comb lung
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Hamman-Rich syndrome
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chronic progressive histiocytosis
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Hand-Schuller-Christian
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autoimmune hypothyroidism. may have transient hyperthyroidism. Low T3/T4 and high TSH
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hashimoto's thyroiditis
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initial hyperthyroidism in hashimoto's thyroiditis that precedes hypOthyroidism
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Hasitoxicosis
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hypersensitivity vasculitis = allergic purpura. lesions have SAME age. hemmorhagic urticaria (with fever, arthralgias, GI and renal involvement, associated with upper respiratory infections
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Henoch-Schonlein purpura
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aganglionic megacolon
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hirschprung's disease
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ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves secondary to pancoast tumor)
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Horner's syndrome
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autosomal dominant, progressive degeneration of caudate nucleus, putamen (striatum) and frontal cortex decrease in GABA
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Huntington's (chromosome 4)
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epileptic events originating in the primary motor cortex (area 4)
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Jacksonian Seizures
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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, increased levels of IgE
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Job's syndrome
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malignant vascular tumor (HHV8 in homosexual men)
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Kaposi sarcoma
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immotile cilia secondary to defective dynein arms (infection, situs inversus, sterility)
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Kartagener's syndrome
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mucocutaneous lymphnode syndrome in kids (acute necrotizing vasculitis of lips, oral mucosa)
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Kawasaki disease
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47, XXY: long arms, sterile hypogonadism
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Klinefelter's syndrome
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bilateral lesions of amygdala (hypersexuality; oral behavior)
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Kluver-Bucy
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adenocarcinoma with signet ring cells (typically originatic from the stomach) metastases to the ovaries
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Kruckenberg Tumor
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alcoholic cirrhosis
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LAennec's Cirrhosis
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HGPRT deficiency, Gout, retardation, self mutilation
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Lesch-Nyhan
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acute disseminated Langerhans' cell histiocytosis
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Letterer-Siwe
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endocarditis with small vegetations on valve leaflets, associated with SLE
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Libman-Sacks
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amyotrophic lateral sclerosis degeneration of the upper and lower motor neurons
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Lou Gehrig's
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bleeding from esophagogastric lacerations secondary to wretching (alcoholics)
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Mallory-Weis syndrome
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connective tissue defect: defective fibrillin gene (dissecting aortic aneurysm, subluxation fo lenses)
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Marfan's
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type V glycogenosis - glycogen storage disease (muscle phorphorylase deficiency = increased glycogen)
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McArdle's Disease
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rule of 2s: 2 inches long, 2 feet from ileocecum, 2% of population, embryonic duct origin, may have extopic tissue; gastric/pancreatic (remnant of VITELINE DUCT/ yolk stalk)
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meckel's diverticulum
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triad: ovarian fibroma, ascites, hydrothorax -associated with fibroma of ovaries
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Meig's Syndrome
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giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
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Menetrier's Disease
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calcification of the media (usually radial and ulnar arteries)
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monckeberg's arteriosclerosis
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factitious disorder (consciously creates symptoms but does not know why)
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Munchausen syndrome
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primary adrenal cushings-->surgical removal of adrenals-->loss of negative feedback to pituitary-->pituitary adenoma
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Nelson's syndrome
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lysosomal storage disease (sphingomyelinase deficiency -sphingomyelin accumulation), foamy histiocytes
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Niemann-Pick
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hereditary hemorrhagic telangiectasia. seen in the Mormon's of Utah
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Osler-Weber-Rendu Syndrome
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abnormal bone architecture (thickened, numerous fractures--> pain)
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Paget's disease
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bronchogenic tumor with superior sulcus involvement --> horner's syndrome
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Pancoast tumor
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dopamine depletion in nigrostriatal tracts
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parkinson's
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melanin pigmentation of lips, mouth, hand, genitalia + hamartomatous polyps of small intestine
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Peutz-Jegher's Syndrome (Autosomal dominant)
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subcutaneous fibrosis of dorsum of penis
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peyronie's disease
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2 different diseases: 1. progressive dementia similar to alzheimers
2. constrictive pericarditis- sequel to mediastinal tuberculosis *calcium frosting unyielding layer-heart chambers may be unable to dilate to receive blood during diastole |
Pick's disease
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hyperthyroidism, nodular goiter, absence of eye signs (plummer's = graves -eye signs)
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Plummer's syndrome
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esophageal webs and iron deficiency anemai, spon shaped nails, Increased SCCA of esophagus
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Plummer-VInson
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type II gylcogenosis - glycogen storage disease--> cardiomegaly (alpha 1,4 glucosidase deficiency: increased glycogen)
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Pompe's disease
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tuberculous osteomyelitis of the vertebrae
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pott's disease
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renal agenesis-->oligohydraminos-->hypoplastic lungs, defects in extremities
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Potter's complex
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disease: recurrent vasospasm in extremities = seen in young healthy women
phenomenon: secondary to underlying disease (SLE or scleroderma) |
Raynaud's
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urethritis, conjunctivitis, arthritis, non infectious (but often follows infections), HLA-B27, polyarticular
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Reiter's syndrome
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microvesicular fatty liver change and encephalopathy, secondary to aspirin ingestion in children following viral illness, especially VZV
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Reye's syndrome
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idiopathic fibrous replacement of thyroid
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Riedel's thyroiditis
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congenital hyperbilirubinemia (CONJUGATED), similar to Dubin-Johnson but no discoloration fo the liver
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Rotor syndrome
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leukemic form of cutaneous T cell lyumphoma (mycosis fungoides)
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Sezary syndrome
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aluminum infalation -->lung fibrosis
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Shaver's disease
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postpartum pituitary necrosis = hemorrhage and shock usually occurred during delivery
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Sheehan's syndrome
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parkinsonism with autonomic dysfunction and orthostatic hypotension
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Shy=Drager
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pituitary cachexia can occur from either pituitary tumors or sheehan's
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Simmond's disease
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MEN type IIa = pheochromocytoma, thyroid medullary cancer, and hyperparathyroidism
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Sipple's syndrome
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triad: dry eyes, dry mouth, arthritis increased risk of B cell lymphoma
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Sjogren's syndrome
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juvenile melanoma (always benign)
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Spitz Nevus
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polycystic ovary: see amenorrhea, infertility, obesity, hirsutism = increased LH secretion
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Stein-LEventhal
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erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection =mycoplasma or sulfa drugs)
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Stevens-Johnson syndrome
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juvenile rheumatoid arthritis (absence of rheumatoid factor)
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Still's disease
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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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Takayasu's arteritis
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gangliosidosis (hexosaminidase A deficiency-->GM2 ganglioside) cherry red spots of the macula
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Tay-Sachs (autosomal recessive)
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1. VSD, 2. overriding aorta, 3. pulmonary artery stenosis, 4. right ventricular hypertrophy
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Tetralogy of Fallot
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involuntary actions, both motor and vocal Treat with Pimoxzide
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Tourette's syndrome
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colon adenomatous polyps plus CNS tumors
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Turcot's syndrome
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45, XO most common cause of primary amenorrhea. no barr body on buccal smear
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Turner's syndrome
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trench mouth, acute necrotizing ulcerative gingivitis due to Fusobacterium
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Vincent's infection
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type I glycodenosis - glycogen storage disease (G6Ptase deficiency)- glycogen accumulation
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Von Gierke's disease
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erythema multiforme, fever, malaise, mucosal ulceration (often secondary to infection =mycoplasma or sulfa drugs)
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Stevens-Johnson syndrome
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juvenile rheumatoid arthritis (absence of rheumatoid factor)
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Still's disease
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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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Takayasu's arteritis
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gangliosidosis (hexosaminidase A deficiency-->GM2 ganglioside) cherry red spots of the macula
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Tay-Sachs (autosomal recessive)
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1. VSD, 2. overriding aorta, 3. pulmonary artery stenosis, 4. right ventricular hypertrophy
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Tetralogy of Fallot
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involuntary actions, both motor and vocal Treat with Pimoxzide
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Tourette's syndrome
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colon adenomatous polyps plus CNS tumors
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Turcot's syndrome
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45, XO most common cause of primary amenorrhea. no barr body on buccal smear
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Turner's syndrome
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trench mouth, acute necrotizing ulcerative gingivitis due to Fusobacterium
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Vincent's infection
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type I glycodenosis - glycogen storage disease (G6Ptase deficiency)- glycogen accumulation
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Von Gierke's disease
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hemangioma (or hemangioblastoma) = cerebellum, brain stem, and retina, adenomas of the viscera especially increased renal cell carcinoma, Chromosome 3p
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Von Hippel-Lindau
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neurofibromatosis & cafe au lait spots and Lisch nodules (Chromosome 17)
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Von Recklinghausen's
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osteitis fibrosa cystica ("brown tumor") secondary to hyperparathyroidism = osteoclastic resorption with fibrous replacement
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Von Recklinghausen's disease of Bone
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defect in platelet adhesion secondary to deficiency in vWF increased aPPT, increased bleed time
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Von WIllebrand's disease (Autosomal dominant)
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proliferation of IgM producing lymphoid cells in men 50-70 years, PAS+, Dutcher bodies
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Waldenstrom's macroglobinemia
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posterior inferior cerebellar artery (PICA) thrombosis ("medullary syndrome"), ipsilateral ataxia, facial pain and temp loss, contralateral: body pain and temp loss
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Wallenberg's sydnrome
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adrenal insufficiency secondary to DIC, DIC secondary to mengiococcemia
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Waterhouse-Friderichsen
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paramedian infarc of midbrain, ipsilateral mydriasis, contralateral: UMN paralysis (lower face and body)
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Wber's syundrome
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necrotizing granulomatous vasculitis of paranasal sinuses, lungs, kidneys etc
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Wgener's granulomatosis
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icteric leptospirosis non icteric progresses to renal failure and myocarditis. Dark field microscopy for diagnosis
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Weil's disease
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MEN type I = thyroid, parathyroid, adrenal cortex, pancreatic islets, pituitary
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Wemer's syndrome
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sensory aphasia impaired comprehension
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Wernicke's aphasia
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thiamine deficiency in alcoholics; bilateral mamillary bodies (mediodorsal nucleus) (confusion, ataxia, opthalmopelgia)
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Wernicke-Korsakoff syndrome
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malabsorption syndrome (with bacteria laden macrophages) and polyarthritis
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Whipple's disease
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hepatolenticular degeneration (copper accumulation (treat with penicillamine) and decrease in ceruloplasmin, mallory bodies int eh liver and also with alcoholic hepatits and Hyaline change. Chromosome 13
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WIlson's disease
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immunodeficiency, combined B and T cell deficiency (thrombocytopenia and eczema) decreased IgM with increased IgA
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Wiskott-Aldrich syndrome
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high iodine level (-)'s thyroid hormone synthesis
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Wolff-Chaikoff effect
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esophage4al, cricopharyngeal muscles above UES
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Zenker's diverticulum
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gastrin secreting tumor of pancreas (or intestines) leads to increased acid -->recurrent ulcers
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Zollinger-Ellison
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interventricualr septal defect
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Roger's disease
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floppy valve syndrome - women b/t 20-40 yoa
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Barlow's syndrome
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minute abscesses found in subacute bacterial endocarditis
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Bracht-Wachter LEsions
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combination of septum secundum atrial septal defect with mitral stenosis
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Luternbacher's syndrome
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autoimmune thyroid disease (Hashimoto's) and insulin dependent diabetes
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Schmidt's syndrome
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