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Addison’s Disease
ï‚· primary adrenocortical deficiency
Addisonian Anemia
 pernicious anemia (antibodies to intrinsic factor or parietal cells  IF  Vit B12  megaloblastic anemia)
Albright’s Syndrome
 polyostotic fibrous dysplasia, precocious puberty, café au lait spots, short stature, young girls
Alport’s Syndrome
ï‚· hereditary nephritis with nerve deafness, Type 4 collagen defect (basement membranes)
Alzheimer’s
 progressive dementia; tau proteins, neurofibrillary tangles, apolipoprotein E4 allele, narrow gyri and wide sulci (atrophy), occipital sparing, hydrocephalus ex vacuo, plaques in hippocampus and cortex, ¯ Acetylcholine, Hiramo bodies (inrtacellular inclusion bodies in hippocampal cells)
Argyll-Robertson Pupil
ï‚· loss of light reflex constriction (contralateral or bilateral)
Arnold-Chiari Malformation
 “Prostitute’s Eye” - accommodates but does not react
Barrett’s
ï‚· Pathognomonic for 3ï‚°Syphilis
Bartter’s Syndrome
ï‚· cerebellar tonsil herniation
Becker’s Muscular Dystrophy
 columnar metaplasia of lower esophagus (­ risk of adenocarcinoma)
Bell’s Palsy
ï‚· hyperreninemia
Berger’s Disease
ï‚· similar to Duchenne, but less severe (deficiency in dystrophin protein)
Bernard-Soulier Disease
ï‚· CNVII palsy (entire face; recall that UMN lesion only affects lower face)
Berry Aneurysm
ï‚· IgA nephropathy
Bowen’s Disease
ï‚· defect in platelet adhesion (abnormally large platelets & lack of platelet-surface glycoprotein)
Briquet’s Syndrome
ï‚· circle of Willis (subarachnoid bleed)
Broca’s Aphasia
ï‚· often associated with ADPKD
Bronchiolitis
 carcinoma in situ on shaft of penis (­ risk of visceral ca)
Brown-Sequard
ï‚· somatization disorder
Bruton’s Disease
ï‚· psychological: multiple physical complaints without physical pathology
Budd-Chiari
ï‚· Motor Aphasia intact comprehension
Buerger’s Disease
RSV
Burkitt’s Lymphoma
ï‚· hemisection of cord (contralateral loss of pain & temp / ipsilateral loss of fine touch, UMN)
Caisson Disease
ï‚· X-linked agammaglobinemia
Carpal Tunnel Syndrome
ï‚· post-hepatic venous thrombosis
Chagas’ Disease
 acute inflammation of small, medium arteries ® painful ischemia ® gangrene
Chediak-Higashi Disease
ï‚· small noncleaved cell lymphoma EBV
Congenital adrenal hyperplasia
ï‚· 8:14 translocation
Conn’s Syndrome
ï‚· gas emboli
Cori’s Disease
Median nerve entrapment
Creutzfeldt-Jakob
ï‚· Trypansoma infection sleeping disease, cardiomegaly with apical atrophy, achlasia
Crigler-Najjar Syndrome
ï‚· Phagocyte Deficiency: neutropenia, albinism, cranial & peripheral neuropathy
Crohn’s
ï‚· repeated infections
Croup
21-hydroxylase deficiency: virilism, no cortisol, salt loss, hypotension
Curling’s Ulcer
11-hydroxylase deficiency: virilism, no cortisol, salt retention, hypertension
Cushing’s
ï‚· primary aldosteronism
Cushing’s Ulcer
ï‚· glycogen storage disease (debranching enzyme deficiency)
de Quervain’s Thyroiditis
 prion infection ® cerebellar & cerebral degeneration
DiGeorge’s Syndrome
ï‚· congenital hyperbilirubinemia (unconjugated)
Down’s Syndrome
ï‚· glucuronyl transferase deficiency
Dressler’s Syndrome
ï‚· IBD; ileocecum, transmural, skip lesions, lymphocytic infiltrate, granulomas
Dubin-Johnson Syndrome
(contrast to UC: limited to colon, mucosa & submucosa, crypt abscesses, pseudopolyps, ­ colon cancer risk)
Duchenne Muscular Dystrophy
Parainfluenza
Edwards’ Syndrome
ï‚· acute gastric ulcer associated with severe burns
Ehler’s-Danlos
 Disease: hypercorticism 2° to ­ ACTH from pituitary (basophilic adenoma)
Eisenmenger’s Complex
 Syndrome: hypercorticism of all other causes (1° adrenal or ectopic)
Erb-Duchenne Palsy
ï‚· acute gastric ulcer associated with CNS trauma
Ewing Sarcoma
ï‚· self-limiting focal destruction (subacute thyroiditis)
Eyrthroplasia of Queyrat
 thymic hypoplasia ® T-cell deficiency
Fanconi’s Syndrome
ï‚· hypoparathyroidism
Felty’s Syndrome
ï‚· trisomy 21 or translocation
Gardner’s Syndrome
ï‚· Post-MI Fibrinous Pericarditis autoimmune
Gaucher’s Disease
ï‚· congenital hyperbilirubinemia (conjugated)
Gilbert’s Syndrome
ï‚· striking brown-to-black discoloration of the liver
GIST
 deficiency of dystrophin protein ® MD X-linked recessive
Glanzmann's Thrombasthenia
ï‚· trisomy 18
Goodpasture’s
ï‚· rocker-bottom feet, low ears, heart disease
Grave’s Disease
ï‚· defective collagen
Guillain-Barre
ï‚· late cyanotic shunt (Rï‚®L) pulmonary HTN & RVH 2ï‚° to long-standing VSD, ASD, or PDA
Hamman-Rich Syndrome
 trauma to superior trunk of brachial plexus Waiter’s Tip
Hand-Schuller-Christian
ï‚· undifferentiated round cell tumor of bone
Hashimoto’s Thyroiditis
ï‚· carcinoma in situ on glans penis
Hashitoxicosis
 impaired proximal tubular reabsorption 2° to lead poisoning or Tetracycline (glycosuria, hyperphosphaturia, aminoaciduria, systemic acidosis)
Henoch-Schonlein purpura
ï‚· rheumatoid arthritis, neutropenia, splenomegaly
Hereditary Spherocytosis
ï‚· adenomatous polyps of colon plus osteomas & soft tissue tumors
Hirschprung’s Disease
ï‚· Lysosomal Storage Disease glucocerebrosidase deficiency
Horner’s Syndrome
ï‚· hepatosplenomegaly, femoral head & long bone erosion, anemia
Huntington’s
Crinkled tissue paper cells in marrow
Hunter’s
ï‚· benign congenital hyperbilirubinemia (unconjugated)
Hurler’s
Tumor arising in cells of Cajal (pacemakers of gut)
Jacksonian Seizures
ï‚· defective glycoproteins on platelets
Job’s Syndrome
 autoimmune: ab’s to glomerular & alveolar basement membranes; linear immunofluorescence
Kaposi Sarcoma
ï‚· autoimmune hyperthyroidism (TSI)
Kartagener’s Syndrome
ï‚· idiopathic polyneuritis (ascending muscle weakness & paralysis; usually self-limiting)
Kawasaki Disease
ï‚· idiopathic pulmonary fibrosis
Keratoconjunctivitis
ï‚· chronic progressive histiocytosis
Klinefelter’s Syndrome
ï‚· autoimmune hypothyroidism (antimicrosomal or antithyroglobulin); Hurthle cells, thyroid germinal centers,
Kluver-Bucy
 initial hyperthyroidism in Hashimoto’s Thyroiditis that precedes hypothyroidism
Krabbe Disease
ï‚· hypersensivity vasculitis
Krukenberg Tumor
ï‚· hemmorhagic urticaria (with fever, arthralgias, GI & renal involvement)
Laennec’s Cirrhosis
ï‚· associated with upper respiratory infections
Lesch-Nyhan
RBC cytoskeletin defect, most commonly spectrin
Letterer-Siwe
ï‚· aganglionic megacolon
Libman-Sacks
 ptosis, miosis, anhidrosis (lesion of cervical sympathetic nerves often 2° to a Pancoast tumor)
Lou Gehrig’s
ï‚· progressive degeneration of caudate nucleus, putamen & frontal cortex; AD
Mallory-Weis Syndrome
Decreased iduronosulfate sulfatase
Marfan’s
Decreased alpha-L-iduronidase
McArdle’s Disease
ï‚· epileptic events originating in the primary motor cortex (area 4)
Meckel’s Diverticulum
ï‚· immune deficiency: neutrophils fail to respond to chemotactic stimuli
Meig’s Syndrome
ï‚· malignant vascular tumor (HHV8 in homosexual men)
Menetrier’s Disease
ï‚· immotile cilia 2ï‚° to defective dynein arms infection, situs inversus, sterility
Monckeberg’s Arteriosclerosis
ï‚· mucocutaneous lymph node syndrome (lips, oral mucosa)
Munchausen Syndrome
adenovirus
Meningioma
ï‚· 47, XXY
Mesothelioma
ï‚· bilateral lesions of amygdala (hypersexuality; oral behavior)
Nelson’s Syndrome
Beta-galactosidase deficiency
Niemann-Pick
ï‚· adenocarcinoma with signet-ring cells (typically originating from the stomach) metastases to the ovaries
Osler-Weber-Rendu Syndrome
ï‚· alcoholic cirrhosis
Osteogenesis imperfecta
ï‚· HGPRT deficiency
Paget’s Disease
ï‚· gout, retardation, self-mutilation
Pancoast Tumor
 acute disseminated Langerhans’ cell histiocytosis
Parkinson’s
ï‚· endocarditis with small vegetations on valve leaflets
Peutz-Jegher’s Syndrome
ï‚· associated with SLE
Peyronie’s Disease
ï‚· Amyotrophic Lateral Sclerosis degeneration of upper & lower motor neurons
Pick’s Disease
 bleeding from esophagogastric lacerations 2° to wretching (alcoholics)
Plummer’s Syndrome
ï‚· elastin defect, floppy mitral valve, arachnodactyly, cystic medial necrosis, subluxed lens
Plummer-Vinson
ï‚· glycogen storage disease (muscle phosphorylase deficiency)
Pompe’s Disease
 rule of 2’s: 2 inches long, 2 feet from the ileocecum, in 2% of the population
Pott’s Disease
ï‚· embryonic duct origin; may contain ectopic tissue (gastric, pancreatic, etc.)
Potter’s Complex
ï‚· Triad: ovarian fibroma, ascites, hydrothorax
Raynaud’s
ï‚· giant hypertrophic gastritis (enlarged rugae; plasma protein loss)
Reiter’s Syndrome
ï‚· calcification of the media (usually radial & ulnar aa.), pipestem arteries
Reye’s Syndrome
 factitious disorder (consciously creates symptoms, but doesn’t know why)
Riedel’s Thyroiditis
Arachnoid cap cells, whorls of cells
Rotor Syndrome
Asbestos exposure
Sezary Syndrome
 1° Adrenal Cushings ® surgical removal of adrenals ® loss of negative feedback to pituitary ® Pituitary Adenoma
Shaver’s Disease
ï‚· Lysosomal Storage Disease sphingomyelinase deficiency
Sheehan’s Syndrome
 “foamy histiocytes”
Shy-Drager
ï‚· Hereditary Hemorrhagic Telangiectasia
Simmond’s Disease
Type I collagen defect
Sipple’s Syndrome
 abnormal bone architecture (thickened, numerous fractures ® pain) , woven and lamellar bone mosaic
Sjogren’s Syndrome
 bronchogenic tumor with superior sulcus involvement ® Horner’s Syndrome
Spitz Nevus
ï‚· dopamine depletion in nigrostriatal tracts; Cogwheel rigidity
Stein-Leventhal
ï‚· melanin pigmentation of lips, mouth, hand, genitalia plus hamartomatous polyps of small intestine
Stevens-Johnson Syndrome
ï‚· subcutaneous fibrosis of dorsum of penis
Struma Ovarii
 progressive dementia similar to Alzheimer’s, knife-edged gyri
Still’s Disease
 hyperthyroidism, nodular goiter, absence of eye signs (Plummer’s = Grave’s - eye signs)
Takayasu’s arteritis
ï‚· esophageal webs & iron-deficiency anemia, ï‚­ SCCA of esophagus
Tay-Sachs
 glycogen storage disease (acid maltase deficiency) ® cardiomegaly
Tetralogy of Fallot
ï‚· tuberculous osteomyelitis of the vertebrae
Tourette’s Syndrome
 renal agenesis ® oligohydramnios ® hypoplastic lungs, defects in extremities
Turcot’s Syndrome
ï‚· Disease: recurrent vasospasm in extremities
Turner’s Syndrome
 Phenomenon: 2° to underlying disease (SLE or scleroderma)
Typhoid Fever
ï‚· urethritis, conjunctivitis, arthritis non-infectious (but often follows infections), HLA-B27, polyarticular
Vincent’s Infection
ï‚· microvesicular fatty liver change & encephalopathy
von Gierke’s Disease
 2° to aspirin ingestion in children following viral illness
von Hippel-Lindau
ï‚· idiopathic fibrous replacement of thyroid
von Recklinghausen’s
ï‚· congenital hyperbilirubinemia (conjugated)
von Recklinghausen’s Disease of Bone
ï‚· similar to Dubin-Johnson, but no discoloration of the liver
von Willebrand’s Disease
ï‚· leukemic form of cutaneous T-cell lymphoma (mycosis fungoides)
Waldenstrom’s macroglobinemia
ï‚· aluminum inhalation ï‚® lung fibrosis
Wallenberg’s Syndrome
ï‚· postpartum pituitary necrosis
Waterhouse-Friderichsen
ï‚· parkinsonism with autonomic dysfunction & orthostatic hypotension
Weber’s Syndrome
ï‚· pituitary cachexia
Wegener’s Granulomatosis
ï‚· MEN type IIa (pheochromocytoma, thyroid medulla, parathyroid)
Weil’s Disease
ï‚· triad: dry eyes, dry mouth, arthritis ï‚­ risk of B-cell lymphoma
Wermer’s Syndrome
ï‚· juvenile melanoma (always benign)
Wernicke’s Aphasia
ï‚· polycystic ovary
Wernicke-Korsakoff Syndrome
ï‚· erythema multiforme, fever, malaise, mucosal ulceration (often 2ï‚° to infection or sulfa drugs)
Whipple’s Disease
Thyroid teratoma of ovary
Wilson’s Disease
ï‚· juvenile rheumatoid arthritis (absence of rheumatoid factor)
Wiskott-Aldrich Syndrome
ï‚· aortic arch syndrome
Wolff-Chaikoff Effect
ï‚· loss of carotid, radial or ulnar pulses
Zenker’s Diverticulum
 gangliosidosis (hexosaminidase A deficiency ® GM2 ganglioside)
Zollinger-Ellison
 ÊVSD, Ëoverriding aorta, Ìpulmonary artery stenosis, Íright ventricular hypertrophy
 gastrin-secreting tumor of pancreas (or intestine) ® ­ acid ® intractable ulcers

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