Wednesday, March 5, 2008

eponyms in medicine - part 50


491 - Sappey - veins of is retroperitoneal veins located around liver and diaphragm connecting epigastric and internal mammary veins with azygos and which become dilated in portal hypertension.

492 - Tinel's sign is a way to detect irritated nerves. It is performed by lightly tapping (percussing) over the nerve to elicit a sensation of tingling or "pins and needles" in the distribution of the nerve.

For example, in carpal tunnel syndrome where median nerve is compressed at the wrist, Tinel's sign is often "positive" causing tingling in the thumb, index, and middle finger. Tinel's sign is sometimes referred to as "distal tingling on percussion" or DTP.

493 - Wolff-Parkinson-White syndrome is paroxysmal supraventricular tachycardia caused by conduction through abnormal accessory bypass tract (bundle of Kent) between atria and ventricles characterized by triad of 1. wide QRS complex - 2. relatively short PR interval - 3. slurring of initial part of QRS delta wave; in familial WPW - associated with mutation in gamma2 regulatory subunit of AMP-activated protein kinase (PRKAG2).

494 - Lowenberg’s sign is in deep vein thrombosis - two calves are wrapped with cuffs to if there is assymetry in tolerance to pressure of 180 mm Hg.

495 - Hoffmann's sign, named after the German neurologist, Johann Hoffmann (born 1857, Rheinhesse; died 1919, Heidelberg), is a finding elicited by a reflex test which verifies the presence or absence of problems in the corticospinal tract. It is also known as the finger flexor reflex.

The test involves tapping the nail or flicking the terminal phalanx of the third or fourth finger. A positive response is seen with flexion of the terminal phalanx of the thumb.

496 - Sipple’s syndrome is MEN type IIa; pheochromacytoma - medullary carcinoma of the thyroid - and hyperparathyroidism due to hyperplasia or tumor.

497 - Heister - spiral valves of is found in the neck of the gallbladder - where tiny folds of mucosal epithelium coalesce to form these valves - may assist in retaining bile between meals.

498 - McConnell’s sign is in acute pulmonary embolism - distinct regional pattern of RV dysfunction - with akinesia of the mid-free wall but normal motion at the apex - 77% sensitive - 94% specific for PE.

499 - Occam’s razor is described in 14th century - “plurality must not be posited without necessity -” in other words - parsimony in diagnosis.

500 - Wallenberg syndrome is infarction in posterior inferior cerebellar artery (PICA) - lateral medulla 1. lesion in nucleus ambiguus - difficulty in swallowing and hoarseness - loss of gag reflex 2. vestibular nucleus - dizziness and nystagmus 3. trigeminal - loss of pain and temperature on ipsilateral 4. inferior cerebellar peduncle - ipsilateral limb ataxia 5. anterolateral system - reduced pain and temperature on contralateral limb 6. ipsilateral Horner’s syndrome hiccup - for reasons not known solitary nucleus may also be destroyed - leading to loss of taste on ipsilateral half of tongue.

eponyms in medicine - part 49

481 - Willis - circle of is cerebral arterial circle - an anastomosis between the two vertebral and two internal carotid arteries.

482 - Leriche’s syndrome is aortoiliac occlusive disease producing distal ischemic symptoms and signs - e.g. pulseless femoral artery: 1. claudication of buttocks - 2. impotence - 3. atrophy of buttocks (seen with iliac occlusive disease).

483 - Riddoch’s sign is in cerebellar disease - with outstretched hands - the hand on the affected side begins to hyperpronate - so that the palm faces outward - and rises above the level of the other hand.

484 - Jumping Frenchmen of Maine syndrome is unusually extreme startle reaction that occurs in selected populations with reactions including echolalia - echopraxia; first described in French Canadian lumberjacks in the Moosehead Lake Region of Maine in the late 19th century; also described as latah in Malaysia.

485 - Quincke's sign - pulsation of the capillary bed in the nail - seen in aortic regurgitation .

486 - Reynolds' pentad is a collection of signs and symptoms suggesting the diagnosis of septic (ascending) cholangitis, a serious infection of the biliary system. It is a combination of Charcot's triad (jaundice, fever, abdominal pain) with hypotension (shock - low blood pressure) and an altered mental state. It was named after the surgeon, B.M. Reynolds, who described it.

487 - Pfeiffer syndrome is craniosynostoses as well as limb defects - mutations in FGFR1 - broad thumbs - broad great toes.

488 - Monro-Kellie doctrine is cranial cavity is a closed rigid box - change in the amount of intracranial blood can occur only through changes in CSF quanitity.

489 - Edinger-Westphal nucleus is part of the cranial nerve III complex involved in direct and consensual light reflex involved in efferent limb of reflex arc.

490 - Rovsing's sign is a sign of appendicitis. If palpation of the lower left quadrant of a person's abdomen results in more pain in the right lower quadrant, the patient is said to have a positive Rovsing's sign and may have appendicitis.

This anomaly occurs because the pain nerves deep in the intestines do not localize well to an exact spot on the abdominal wall, unlike pain nerves in muscles. Pain from a stomach ulcer or gallstone can be interpreted by the brain as pain from the stomach, liver, gall bladder, duodenum, or first part of the small intestine. It will "refer" pain often to the mid upper abdomen.

Because the appendix is a piece of intestine, it follows a similar referral pattern.

eponyms in medicine - part 48


471 - Döhle bodies is irregularly shaped greenish inclusions in neutrophil cytoplasm - consisting of ribosomes and/or rough ER and are seen in severe bacterial infections.

472 - Silk Road disease is Behçet’s disease.

473 - Herring bodies is neurosecretory granules consisting of either vasopressin or oxytocin in neurohypophysis.

474 - Unna boot is compression dressing impregnated with medication for treating venous stasis ulcers; named after Paul Gerson Unna - German dermatologist 1850-1929.

475 - Rigler's sign, also known as the double wall sign, is seen on an x-ray of the abdomen when air is present on both sides of the intestine; a Rigler's sign is present when air is present on the inside (lumenal side) and the outside (peritoneal side). Air in the peritoneum is considered abnormal, unless the patient had a recent abdominal surgery.

A false double wall sign can result from two loops of bowel being in contact with one another.

476 - Muckle-Wells syndrome is syndrome of urticaria - progressive perceptive deafness - and amyloidosis; from mutation in cryopyrin; autosomal dominant; of note familial cold autoinflammatory syndrome - commonly known as familial cold urticaria - characterized by intermittent episodes of rash - arthralgia - fever and conjunctivitis after generalized exposure to cold is also associated with mutations in cryopyrin.

477 - Birbeck’s granules is aka Langerhans’s granules; a small tennis racket-shaped membrane-bound granule with characteristic cross-striated internal ultrastructure seen in Langerhans cell histiocytosis.

478 - Sellick’s maneuver is cricoid pressure during intubation.

479 - The football sign refers to a large oval radiolucency in the shape of an American football, which is seen on supine abdominal X-ray films. The football sign is most frequently seen in infants with spontaneous or iatrogenic gastric perforation causing pneumoperitoneum.

480 - Wenckebach block is second-degree AV blcok - Mobitz type I.

eponyms in medicine - part 47


461 - Christmas disease is hemophilia B - deficiency in factor IX.

462 - de Quervain’s disease is a stenosing tenosynovitis of the thumb extensors and abductors; pain elicited with Finkelstein’s test.

463 - Munchausen’s syndrome is factitious disorder - eponym given by Asher in 1951 after Baron Karl Munchausen (1720-1797) - retired German cavalry officer with a reputation for preposterous stories about his activities as a soldier - hunter.

464 - MacCallum’s plaques is irregular thickenings - usually in the left atrium - from subendocardial lesions - usually exacerbated by regurgitant jets.

465 -POEMS syndrome is polyneuropathy - organomegaly - endocrinopahty - M protein - and skin changes which may be seen in plasma cell dyscrasias; also known as Crow-Fukase syndrome in Japan.

466 - Santorini’s fissures is fissures in anterior aspect of cartilaginous portion of ear canal through which neurovascular tissues pass; may allow spread of ear disease to parotid joint - TMJ - soft tissues of upper neck.

467 - Glauber’s salt is sodium sulfate - laxative.

468 - Hampton's hump, also Hampton hump, is a radiologic sign seen on chest X-rays indicating pulmonary infarction and classically due to pulmonary embolism induced atelectasis.

It consists of a pleura based shallow wedge-shaped consolidation in the lung periphery with the base against the pleural surface. It is named after Aubrey Otis Hampton.

469 - In chest radiography, the Westermark Sign, is a sign that represents a focus of oligemia (vasoconstriction) seen distal to a pulmonary embolus (PE).[1] While the chest x-ray is abnormal in the majority of PE cases, the Westermark sign is seen in only 2% of patients.[2]

The sign results from a combination of:

1. the dilation of the pulmonary arteries proximal to the embolus and

2. the collapse of the distal vasculature creating the appearance of a sharp cut off on chest radiography.

470 - Wickham’s striae is in lichen planus - papules are highlighted by a shiny surface with a lacy white pattern.

eponyms in medicine - part 46


451 - Rothmann-Makai syndrome is a variant of idiopathic lobular panniculitis seen in infants - tends to be localized and spontaneously resolves; associated with autoimmune diseases such as juvenile rheumatoid arthritis - diabetes - and Hashimoto’s thyroiditis.

452 - Lugol’s solution is 5% iodine and 10% KI - a dose of 6.3 mg of I per drop - for giving iodine.

453 - Stoppa repair is hernia repair using tension-free intraparietal prosthetic mesh.

454 - Auenbrugger’s sign is epigastric bulge due to a massive pericardial effusion.

455 - Zahn - lines of is thrombi formed within a cardiac chamber or the aorta - may have apparent laminations - produced by alternating layers of paler platelets admixed with some fibrin - separated by darker layers containing more red cells.

456 - Cagot ear is absence of ear lobe; assocated with region in Pyrennes.

457 - Ham’s test is for diagnosing paroxysmal nocturnal hemoglobinuria - uses increased sensitivity of PNH-affected RBCs to lysis by complement; introduced in late 1930s.

458 - Forscheimer spots is in rubella - punctate soft palate macules.

459 - Apley grind test is for meniscal tears - flex patient’s leg to 90 degrees - then grind the tibial condyles against the femoral condyles with rotation motion in the varus and then valgus positions.

460 - clay shoveler’s fracture is fracture of spinous process of C7.

eponyms in medicine - part 45


441 - "Dawson's Fingers" is a condition affecting the brain of Multiple Sclerosis patients. The condition is the result of inflamation around long axis of medular veins. This results in a finger-like appearance of the lesions extending mainly off the ventricles within the brain. The term is named for histologist James Walker Dawson, who first defined the condition .

442 - Ebstein’s anomaly is malformation characterized by the downward displacement of the tricuspid valve into the right ventricle due to anomalous attachment of the tricuspid leaflets; associated with maternal exposure to Li.

443 - Döhle bodies are light blue-gray, basophilic, leukocyte inclusions located in the peripheral cytoplasm of neutrophils. They measure 1-3 µm in diameter. Not much is known about their formation. They are named after German pathologist, Karl Gottfried Paul Döhle (1855-1928)

They are seen in:

* Burns

* Infections

* Physical trauma

* Neoplastic diseases

* Wissler’s disease

* May-Hegglin’s anomaly

* Chédiak-Steinbrinck-Higashi’s syndrome.

444 - Sipple’s syndrome is MEN type IIa; pheochromocytoma - medullary carcinoma of the thyroid - and hyperparathyroidism due to hyperplasia or tumor.

445 - Stroop test is stress test - also used for checking frontal function - where patients are tested for the ability to read off the text color of text spelling potentially different colors.

446 - Montgomery - glands of is sebaceous glands of areola.

447 - Goodell's sign is an indication of pregnancy. It is a significant softening of the vaginal portion of the cervix.

448 - Brunner’s glands is in duodenum - submucosal mucous glands that secrete bicarbonate - glycoproteins - and pepsinogen II - virtually indistinguishable from pyloric mucous glands.

449 - Grafenberg spot is erogenous area in anterior vaginal wall ( also called G SPOT ) .

450 - Goodsall's rule is applied to the examination of anal fistula. It states that if the fistula lies in the anterior half of the anal area then it opens directly into the anal canal, while if a fistula lies in the posterior half of the canal then it tracks around the anus laterally and opens into the midline posteriorly.

eponyms in medicine - part 44

431 - Erb’s palsy is upper plexus palsy affecting C5 and C6 and +/- C7 nerve roots. lower brachial plexus palsy is called klumpke's palsy .

432 - Denys-Drash syndrome is gonadal dysgenesis (male pseudohermaphroditism) and nephropathy leading to renal failure with increased risk of Wilms’s tumor; dominant negative missense mutation of WT-1.

433 - Hers disease is type VI glycogen storage disease - deficiency in liver phosphorylase; presents as hepatomegaly and growth retardation; hypoglycemic - hyperlipidemia - and hyperketosis usually mild if present; hepatomegaly and growth retardation improve with age and usually disppear at puberty.

434 - Trendelenburg’s gait is waddling gait in people with weakness or paresis of gluteal muscles; seen in progressive muscular dystrophy.

435 - Cori’s disease is glycogen storage disease type III - deficiency in debranching enzyme - amylo-1 -6-glucosidase - leading to variable accumulation of glycogen in the liver - heart - or skeletal muscle - characterized by stunted growth - hepatomegaly - and hypoglycemia.

436 - Lafora’s disease is progressive myoclonus epilepsy - autosomal recessive - onset teenage years - characterized by seizures and cumulative neurological deterioration - death usually within ten years of first symptoms; associated with intracellular inclusions (Lafora bodies); associated with mutation in gene EPM2A.

437 - Bruton’s tyrosine kinase is mutation causes X-linked agammaglobulinemia (XLA also associated with defect in intact membrane-bound m chain (it’s essential for B-cell development) Btk found only in B cells

438 - Call-Fleming syndrome is sudden-onset severe headache - focal neurological deficits - and seizures; associated with serotonin modulating drugs like SSRIs.

439 - dimple sign is in dermatofibroma - lateral compression with thumb and index finger produces a depression - or “dimple.”

440 - Nissen fundoplication is for treating gastroesophageal reflux disease - surrounding lower end of esophagus with cuff of gastric fundal muscle to increase lower esophageal sphincter competence.

eponyms in medicine - part 43


421 - Spanish flu is 1918 influenza with 20-100 million deaths worldwide with 2.5% mortality (influenza normally 0.1% mortality).

422 - Wernicke’s area is important cortical center for recognizing speech - found in the superior temporal gyrus; communicates with Broca’s area with arcuate fasciulus.

423 - Cruveihiler-Baumgarten bruit is bruit heard over caput medusa in portal hypertension.

424 - Dacie’s syndrome is idiopathic hyperplastic enlargement of the spleen with anemia and neutropenia; progression to lymphoma in some cases.

425 - Forscheimer spots is in rubella - punctate soft palate macules.

426 - Sudeck’s syndrome is reflex sympathetic dystrophy syndrome occurring in older people characterized by cystic changes and subchondral erosion in bone - diffuse osteoporosis - and muscle atrophy - but not necessarily associated with trauma.

427 - Denver shunt is for treating refractory ascites - peritoneovenous shunt connecting peritoneum and central venous system - compare with LeVeen shunt; Denver shunt uses valve that lies within a fluid-filled - compressible silicone chamber.

428 - Schilder’s disease is adrenoleukodystrophy - X-linked disorder - presents in childhood with weakness - spasticity - leading to dementia - blindness - and quadriparesis - associated with adrenal insufficiency; from defect in beta-oxidation of fatty acids in peroxisomes leading to accumulation of very long-chain saturated fatty acids.

429 - Kulchitsky’s cells is neuroendocrine argentaffin cells present along the bronchial epithelium - particularly in the fetus and neonate; small cell carcinoma has granules similar to Kulchitsky’s cells; origin of carcinoid tumors.

430 - Boxer’s fracture is fracture of the metacarpal neck - classically of small finger.

eponyms in medicine - part 42


411 - Krabbe’s disease is AR sphingolipidosis (sulfatidose) - from beta-galactosidase deficiency - resulting in increased galactocerebrosides - mental retardation - blindness - deafness - paralysis - convulsions - total absence of myelin - globoid bodies in white matter of brain - fatal in early life.

412 - Tourette’s syndrome is chronic multiple motor and verbal tics - symptoms typically begin before 21 y.o. - first signs motor tics in 80% and vocal tics in 20% but eventually both motor and vocal; higher than expected number of left-handedness and ambidexterity; 40-50% involve self-mutilation such as nail-biting - hair-pulling - etc.

413 - Fletcher factor is prekallikrein; in intrinsic phase of coagulation - converts XII to XIIa; deficiency results in elevated PTT but with no clinical bleeding.

414 - Ellsworth-Howard test is for diagnosis of pseudohypoparathyroidism by assessing response to exogenous PTH.

415 - moyamoya disease is occlusive disease involving large intracranial arteries - especially the distal ICA and stem of the MCA and ACA; “puff of smoke” (in Japanese - moya moya) appearance on angiography from lenticulostriate arteries developing rich collateral circulation around the middle cerebral occlusion that; anticoagulation risky because of occurrence of SAH from rupture of the transdural anastomotic channels.

416 - Senear-Usher syndrome is pemphigus erythematosus; a localized variety of pemphigus foliaceus confined to seborrheic sites.

417 - Tangier disease is rare recessive disease characterized by enlarged orange tonsils - peripheral neuropathy affecting small fibers involved in pain and temperature - and a near-complete absence of HDL-cholesterol; ABC1 - the ATP binding-cassette transporter 1 gene - mutated in Tagier disease; gene mediates efflux of cholesterol from cells; named after small island in Chesapeake Bay where disease first identified in five-year-old boy.

418 - factor V Leiden is Arg(506)->Gln - results in resistance to cleavage by activated protein C (an anticoagulant) - found in 20% of patients with venous thromboembolism - 6% of U.S. population.

419 - Miller Fisher syndrome is variant of Guillain-Barré where cranial nerves are affected - leading to triad of ataxia - areflexia and ophthalmoplegia; cross-reacting antibodies to GQ1b ganglioside have been found; triggered by certain strains of C. jejuni.

420 - Hutchinson’s sign is pigment in the paronychial area suggesting melanoma.

eponyms in medicine - part 41


401 - PANDAS is Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections. Consists of tics - movement disorders - emotional-lability - and obsessive-compulsive behavior associated with streptococcal infection. Caused by IgG antibodies which recognize group A streptococcal cell wall proteins as well as neuronal cytoplasmic antigens of the basal ganglia. Related to Sydenham's chorea.

402 - Haldane effect is deoxygenated hemoglobin having a greater affinity for CO2 than oxygenated hemoglobin.

403 - Brugada syndrome is defect in an ion channel gene resulting in abnormal electrophysiologic activity in the right ventricle and characterized by (1) ST segment elevation in V1-V3 - (2) right bundle branch block - (3) sudden cardiac death - (4) grossly normal heart.

404 - ASPEN syndrome is Association of Sickle cell disease - Priapism (usually major) - Exchange transfusion - Neurological events including headache - lethargy - and seizures; may be due to abrupt cerebral hypoxemia from too-rapid exchange or release of vasoactive cytokines released from penile blood vessels; described in J Urol. 1993; 150:1480-1482.

405 - Wright’s stain is stain used for blood and bone marrow films.

406 - Mibelli - porokeratosis of is classic porokeratosis - localized - chronically progressive - hyperkeratotic - irregular plaques with central atrophy and prominent peripheral keratotic ridge; characterized pathologically by presence of cornoid lamella.

407 - Lambert-Eaton myasthenic syndrome is disease of neuromuscular junction associated with paraneoplastic process with proximal muscle weakness that improves with repetitive stimulation; associated with P/Q type presynaptic voltage-gated calcium channel antibodies; 70% have malignancy - usually small cell cancer.

408 - Heberden’s nodes is characteristic in women - but not in men - represent prominent osteophytes at the DIP joints in osteoarthritis (enlargements of tubercles at the articular extremities of the distal phalanges.

409 - Pick bodies is in neurons - cytoplasmic - round to oval - filamentous inclusions that strongly stain with silver - weakly eosinophilic; composed of neurofilaments - vesiculated endoplasmic reticulum - and paired helical filaments that are immunocytochemically similar to those found in Alzheimer’s; don’t survive death of host neuron like they do in Alzheimer’s.

410 - Monteggia fracture is fracture of the proximal third of the ulna with a dislocation of radial head.

eponyms in medicine - part 40


391 - Von Recklinghausen’s disease is neurofibromatosis.

392 - Calot’s triangle is the area bordered by the 1. cystic duct - 2. common hepatic duct - 3. lower edge of the liver; cystic artery - sometimes hepatic artery found here.

393 - Von Willebrand factor is vWF bridges collagen and platelets and favors platelet aggregation - ensuring platelet and vessel wall interactions; glycoprotein Ib-IX major receptor for vWF; vWF also serves as carrier for factor VIII; made in endothelial cells and megakaryocytes.

394 - Zenker’s diverticulum is a pharyngeal diverticulum from premature contraction of the cricopharyngeus muscle on swallowing - leads to progressive UES narrowing - leading to a posteriorly directed hypopharynx; causes progressive food stasis and dysphagia.

395 - D’Espine’s sign is breath sounds louder over C7 than adjacent lung - suggests lesion in posterior mediastinum - e.g. lymphoma - tuberculosis - etc.

396 - Warthin-Finkeldey cells is in measles pneumonia - cells with multiple nuclei and eosinophilic intranuclear inclusions.

397 - Cabrera’s sign is in left bundle branch block complicated by MI - notching at 0.05 s in ascending limb of S wave in V3 - V4; 27% sens for MI.

398 - Curling’s ulcers is stress erosions and ulcers occurring in the proximal duodenum and associated with severe burns or trauma - from ischemia of the gastric mucosa.

399 - Roger’s disease is small congenital VSD defect <0.5>

400 - Best disease is vitelliform macular dystrophy type 2 (VMD2) - characterized by gradual loss of visual acuity starting in their teenage years; accumulation of lipofuscin in retinal pigment epithelium; markedly abnormal electro-oculogram (EOG) in all stages of progression and in phenotypically normal carriers; autosomal dominant - from mutation in VMD2 gene; first described in 1905.

eponyms in medicine - part 39

381 - Parinaud’s oculoglandular syndrome is preauricular node enlargement associated with chronic granulomatous conjunctivitis; atypical form of cat scratch disease from inoculation near eye.

382 - Reinke’s edema is vocal cord polyposis in female smokers - 50s-70s.

383 - Rosenthal fibers is inclusions that develop in astrocytes in chronic reactive and neoplastic proliferations; abundant in Alexander’s disease.

384 - Fontan procedure is for treating tricuspid atresia - pulmonary atresia - or hypoplastic left heart syndrome - procedure developed in 1968 whereby IVC is connected to pulmonary artery; long term complications include arrhythmias and protein losing enteropathy because of edema in liver and small bowel.

385 - Gleason score is prostate cancers stratified into 5 grades on basis of glandular patterns and degree of differentiation; grade 1 most differentiated and grade 5 no glandular differentiation; primary score and secondary score (for second most common histology) added together for score; therefore most differentiated tumor score of 2.

386 - Gianotti-Crosti syndrome is reactive exanthem - first described in association with hepatitis B infection (papular acrodermatitis of childhood - papular eruption on face and limbs); also associated with EBV - CMV infection.

387 - Naxos disease is initially described on Greek island of Naxos - synrome of arrhythmogenic right ventricular cardiomyopathy - non-epidermolytic palmoplantar keratoderma - and woolly hair - due to deletion in plakoglobin - protein in adherens and desmosomal junctions.

388 - Carney complex is AD complex of cardiac myxomas with aggressive biologic behavior - spotty pigmentation - and association with endocrine tumors (causing e.g. - Cushing syndrome); mutations in PRKAR1alpha gene (a protein kinase) account for half of the cases; unrelated to Carney syndrome.

389 - Klinger disease is Wegener’s disease; first described by Heinz Klinger in 1931 as a medical student and then described by Friederic Wegener in 1936.

390 - Paget’s disease of breast is breast cancer involving nipple and areola - appears as eczematous rash over breast with crusting - scaling - or erosion.

eponyms in medicine - part 38


371 - Trendelenburg position is position where angle of the head of bed or table is inclined at 45 degrees down; used in surgery to push the abdominal organs towards the chest.

372 - Scheie’s syndrome is mucopolysaccharidosis (I S) - from alpha-L-iduronidase deficiency (same as Hurler’s syndrome) - milder than Hurler’s syndrome - resulting in corneal clouding - stiff joints - aortic valve disease - normal intelligence and potentially normal life span.

373 - Councilman bodies is in apoptosis - hepatocytes that round up to form shrunken - pyknotic - and intensely eosinophilic bodies.A Councilman body, also known as a Councilman hyaline body, is an eosinophilic globule often found in the liver of individuals suffering from yellow fever. Each Councilman body results from the apoptotic death of a single liver cell.Until recently the presence of Councilman bodies in a liver biopsy was thought to be sufficient evidence for a diagnosis of yellow fever. However, they have since been found also to be present in other viral hemorrhagic fevers along with acute viral hepatitis, and thus may no longer be considered as diagnostic for yellow fever.

Councilman bodies are named after American pathologist William T. Councilman (1854-1933), who discovered them.

374 - Cockcroft-Gault formula is for calculating clearance based on creatinine - age - weight: [(140-age) x lean body weight (in kg)]/[plasma creatinine (in mg/dL) x 72]; in women - multipled by 0.85 because of smaller muscle mass.

375 - Riedel’s thyroiditis is unknown etiology - marked by glandular atrophy - hypothyroidism - and replacement of the thyroid by fibrous tissue with adhesion to surrounding structures.

376 - Nägele’s rule is means of estimating date of delivery by counting back 3 months from the first day of the last menstrual period and adding seven days; full term 38 weeks after fertilization - 40 weeks after LNMP.

377 - St. Jude valve is prosthetic valve - bileaflet - with two semicircular discs that pivot between open and closed positions without supporting struts - first used in 1977.

378 - Dercum’s disease is adipositas dolorsa - condition tending to affect obese women in middle age - mostly menopausal - consisting of multiple exquisitely tender lipomas.

379 - Gower’s maneuver is Duchenne’s muscular dystrophy - patient using hands to help himself get up.

380 - Weil’s disease is severe form of leptospirosis with hepatic dysfunction - renal dysfunction - and hemorrhage.

eponyms in medicine - part 37


361 - Lewis blood group system is named after Mrs. Lewis - pregnant woman in whom anti-Lea was discovered by Mourant in 1946; function of antigens in this system are unknown.

362 - Louis - angle of is sternal angle.

363 - Yuzpe regimen is ethinyl estradiol 100 mcg and levonorgestrel 0.5 mg taken twice -12 hours apart - reduces number of anticipated pregnancies by 75-80%.

364 - Kallman’s syndrome is anosmia; hypogonadotropic hypogonadism stemming from failure of LHRH-expressing neurons to migrate - etc.

365 - Tarlov cyst is perineural cyst found in the lower spinal cord.

366 - San Joaquin valley fever is coccidiomycosis (from infection with Coccidiomycosis imites).

367 - nerve endings is free includes Merkel cell associated: found in the epidermis as small aggregates called tactile corpuscles (Merkel cell has neural crest and squamous properties); encapsulated includes Meissner’s: asymmetrical - lamellated; Pacinian: symmetrical - lamellated; Ruffini: no lamellation.

368 - Bickerstaff’s encephalitis is brain stem encephalitis

369 - Legg-Calvé-Perthes disease is self-limiting hip disorder of children - 4-8 y.o. (M:F 8:1) involving vascular compromise of the capital femoral epiphysis; perhaps some aseptic necrosis action too.

370 - Raynaud’s phenomenon is exaggerated vascular response to cold temperatures or emotional stress - manifested by symmetrical - sharply demarcated color changes of the skin of the digits due to abnormal vasoconstriction of digital arteries and cutaneous arterioles.

eponyms in medicine - part 36

351 - Maffucci’s syndrome is enchondromatosis associated with soft tissue hemangiomas; associated with ovarian carcinomas and brain gliomas; essentially Ollier’s disease with hemangiomas.

352 - Heyde’s syndrome is association between bleeding from gastrointestinal angiodysplasia and severe aortic stenosis which may resolve with aortic valve replacement; may be explained by acquired type IIA von Willebrand’s syndrome; first described by Hyde in N Engl J Med 1958;259:196.

353 - Hansel’s stain is special stain used to detect eosinophiluria on the urine sediment.

354 - Conn’s syndrome is primary hyperaldosteronism - caused by an aldosterone-secreting tumor - resulting in hypertension - hypokalemia - hypernatremia - metabolic alkalosis - and low plasma renin.

355 - Kienböck disease is osteonecrosis of the carpal lunate that most commonly affects men between ages 20-40; sometimes history of trauma; may lead to end-stage arthritis of wrist with progression.

356 - Pancoast’s tumor is apical lung cancers in the superior pulmonary sulcus which invade neural structures around the trachea - including the cervical sympathetic plexus - leading to severe pain in distribution of the ulnar nerve and Horner’s syndrome on same side of the lesion.

357 - Ewing’s sarcoma is onion skinning; small round cell tumor of bone - 85% of cases there is a t(11;22)(q24:q12) translocation.

358 - Schafer’s maneuver is extensor plantar response by squeezing Achilles tendon suggesting upper motor neuron defect.

359 - Bernheim effect - reverse is in pulmonary embolism - right ventricular failure causing septum to bulge into and compromise left ventricular filling.

360 - Poiseuille’s law is flow proportional to fourth power of radius - inversely proportional to length.

eponyms in medicine - part 35


341 - Capgras syndrome is delusional belief that one or a few highly familiar people have been replaced by impostors who are physically very similar to the originals; seen rarely in schizophrenia.

342 - Mallory body is “alcoholic hyalin -” an eosinophilic intracytoplasmic inclusion in liver cells that is characteristic of alcoholic liver disease but seen in many other conditions as well (e.g. - primary biliary cirrhosis - Wilson’s disease - chronic cholestatic syndromes - focal nodular hyperplasia - and hepatocellular carcinoma); inclusions composed largely of intermediate filaments of prekeratin.

343 - Forrester classification is in myocardial infarction - I - PWP<18>2.2 L/min/m2 - 2% mort; II - PWP>18 and CI>2.2 - 10% mort; III - CI<2.2>18 and CI<2.2>

344 - Paget’s disease of bone is osteitis deformans - characterized by initial osteolytic stage followed by a mixed osteoclastic-osteoblastic stage - which ends with osteoblastic activity and evolves into a burnt-out osteosclerotic stage; increased alkaline phosphatase and increased urine hydroxyproline.

345 - Hoover’s sign is a modification in the movement of the costal margins during respiration - caused by a flattening of the diaphragm; suggestive of empyema or other intrathoracic condition causing a change in the contour of the diaphragm.

346 - Maddrey discriminant function is for predicting mortality in patients with alcoholic hepatitis - Maddrey DF = 4.6 x (PT-control PT) + serum bilirubin; DF > 32 associated with high short-term mortality - 1 month mort 35% in absence of encephalopathy and 45% if encephalopathy present.

347 - Vater - ampulla is location where common bile duct enters the duodenum; described by German anatomist Vater (1684-1751).

348 - Starr-Edwards valve is ball and cage valve - oldest prosthetic valve in continuous use - first used in 1965.

349 - Nothnagel’s syndrome is injury to superior cerebellar peduncle causing ipsilateral oculomotor palsy and contralateral cerebellar ataxia.

350 - Martin-Lewis agar is variant of chocolate agar medium for growing Neisseria.

eponyms in medicine - part 34


331 - Wiskott-Aldrich syndrome is X-linked characterized by triad of eczema - thrombocytopenia (from autoantibodies) - and repeated infections; small platelets (3-5 fL); failure to express sialic acid-rich glycoprotein - sialophorin or CD15 - ending in early death.

332 - Bowen’s disease is squamous cacrinoma in situ - seen generally on sun-exposed areas.

333 - Lennox-Gastaut syndrome is childhood seizure disorder associated with multiple seizure types (including drop attacks - atypical absences general tonic clonic seizures - and myoclonus) - slow generalized spike-and-slow-wave EEG - mental retardation - and resistant to standard anti-epileptic medications.

334 - de Musset’s sign is in aortic regurgitation - head bobbing - named after 19th century French poet who had luetic aortic insufficiency.

335 - Lassa fever is hemorrhagic fever caused by Lassa virus - first isolated in 1969 in Nigeria - an arenavirus - spread through contact with secretions (e.g. - urine) from infected rats; fatality 15-20% of hospitalized patients; can be treated with ribavirin.

336 - Froin’s syndrome is spinal block from tumor or inflammatory conditions - etc. causing increased protein in CSF - resulting in xanthochromia and increased coagulability in CSF.

337 - Pautrier’s microabcesses is q.v. Sézary-Lutzner cells.

338 - Markesbery distal myopathy is distal myopathy associated with rimmed vacuoles.

339 - Alexander’s law is peripheral vestibular nystagmus increases in intensity when the gaze is in the direction of the fast phase - and decreases in intensity when the gaze is away from the fast phase.

340 - Kocher’s maneuver is dissection of the duodenum from the right-sided peritoneal attachment to allow mobilization and visualization of the back of the duodenum/pancreas.(2nd part).

eponyms in medicine - part 33


321 - Modigliani syndrome is thyroid in normal position but people with long curving necks enhance prominence and palpation of thyroid.

322 - Kew Gardens spotted fever is Rickettsialpox due to Rickettsia akari - from Kew Gardens - New York.

323 - Kennedy syndrome is X-linked spinobulbar muscular atrophy; from CAG repeat expansion encoding androgen receptor; leads to distal limb amyotrophy - bulbar signs - fasiculations prominent - androgen insensitivity with gynecomastia - testicular atrophy - and oligospermia.

324 - Berger’s disease is IgA nephropathy - ESRD develops in 15% of cases at 10 years and 20% at 20 years - treated with steroids in certain instances.

325 - Schwachman-Diamond syndrome is combination of neutropenia - metaphyseal dysplasia - and pancreatic insufficiency - associated with recurrent infections beginning in the first year of life in the sinuses - bones - lungs - skin and urinary tract; associated with increased risk of aplasia - myelodysplasia - and leukemia; life expectancy is 35 years.

326 - Thompson's test is verifies if gastroc-soleus complex intact; squeeze calf belly - foot should plantar flex.

327 - Steele-Richardson-Olszewski syndrome is aka progressive supranuclear palsy.

328 - Bancroft’s sign is in deep vein thrombosis - compression of calf forward against tibia causing more pain than horizontal compression when gastrocnemius muscle is lifted; also referred to as Moses’s sign.

329 - Bang’s disease is brucellosis.

330 - Williams’s syndrome is supravalvular aortic stenosis - mental retardation - elfin facies - association with hypercalcemia due to abnormal sensitivity to vitamin D - idiopathic hypercalcemia of pregnancy - loquacious personality - abnormally sensitive hearing; from deletion in elastin gene and probably several adjacent genes.

eponyms in medicine - part 32


311 - Kupffer cells is phagocytic cells of the mononuclear phagocyte series found on the luminal surface of endothelial cells in hepatic sinusoids; they metabolize old RBCs - digest hemoglobin.

312 - Boston sign is in thyrotoxicosis - jerking of the lagging lid.

313 - Oppenheim’s sign is involuntary dorsiflexion of the toes when stroking the medial/anterior tibial surface superiorly to inferiorly - indicating upper motor neuron defect.

314 - Ross’s syndrome is tonic pupils (generally bilateral) - anhydrosis - and areflexia which may appear in a different pattern distribution; possible link with Holmes-Adie syndrome.

315 - Buerger’s sign is in peripheral vascular disease - red foot becomes pale with elevation.

316 - Hutchinson’s teeth is smaller and more widely spaced than normal and are notched on their biting surfaces; sign of congenital syphilis.the diagnostic criteria of the congenital syphilis are called the hutchinsons triad and they are

a- HUTCHINSONS TEETH

b- INTERSTITIAL KERATITIS

c- EIGTH NERVE DEAFNESS ( VESTIBULO COCHLEAR NERVE ).

if u wanna see how the hutchinson's teeth look like click here .


317 - job's syndrome - RECURRENT STAPHYLOCOCCAL CUTANEOUS INFECTIONS ARE MORE COMMON AMONG INDIVIDUALS WHO HAVE EOSINOPHILIA AND ELEVATED SERUM LEVELS OF IMMUNOGLOBULIN E. THIS IS CALLED JOB'S SYNDROME.

318 - Holmes-Adie syndrome is frequently affects young women - large - often irregular pupils - unilateral at onset as well as segmental palsy and segmental spontaneous movement of the iris - delayed constriction in response to near vision - delayed redilation after near vision - impaired accommodation - absent light reflex - and absent deep tendon reflexes; may be caused by degeneration of ciliary ganglion - followed by aberrant reinnervation of the pupilloconstrictor muscles.

319 - Felty’s syndrome is rheumatoid arthritis - splenomegaly - and neutropenia - and leg ulcers; associated with HLA-DR.

320 - Romaña’s sign is in the first week of Chagas disease - unilateral periorbital edema and swelling of the eyelid associated with reduviid bug of eye.

eponyms in medicine - part 31


301 - Degos disease is malignant atrophic papulosis; multisystem lymphocytic vasculitis characterized by thrombosis primarily of cutaneous small vessels as well as small vassels in GI tract - ocular - and CNS; has characteristic porcelain white atrophic lesion.

302 - Clara cells is cells found in the epithelium of terminal and respiratory bronchioles - devoid of cilia - present secretory granules in their apex and are known to secrete glycosoaminoglycans that probably protect the bronchiolar lining.

303 - Kikuchi’s disease is histiocytic necrotizing lymphadenitis - characterized by cervical lymphadenopathy with tenderness - fever - and night sweats; tends to occur in young women; histology can be confused with lymphoma.

304 - Retzius - veins of is numerous small veins in the retroperitoneum that connect the retroperitoneal viscera to the posterior abdominal wall; dilated in portal hypertension.

305 - Mounier-Kuhn syndrome is tracheomegaly - tracheobronchomegaly associated with recurrent pneumonia - copious purulent sputum production - hoarseness - load cough; presents in 30s-40s - more common in males; tracheal lumen increases with Valsalva; autosomal recessive.

306 - Marie-Strümpell disease is refers to ankylosing spondylitis in Europe.

307 - McMurray test is for diagnosing meniscal tear - passively flex hip and knee until heel touches buttock - steady the knee with one hand - externally rotate foot - then extend the knee to 90 degrees - return ot the beginning and then internally rotate the foot - then passively extend the knee to 90 degrees - feeling for clicks - PPV 83% for tears.

308 - Bateman’s senile purpura is purpura following trauma to severely sun-damaged skin of the dorsal forearm of elderly persons; months may be required for resolution of pigmentation from hemorrhage.

309 - RSH syndrome is Smith-Lemli-Opitz syndrome.

310 - Burow’s solution is aluminum acetate in water - invented in mid-1800s by ophthalmologist Karl Burow (a.k.a. by its tradename Domeboro).

Monday, March 3, 2008

eponyms in medicine - part 30

291 - Uhl’s anomaly is paper thin parietal myocardium - usually but not always limited to right ventricle - presents as heart failure in infancy or early childhood.

292 - Muir-Torre syndrome is patients with hereditary nonpolyposis colon cancer (HNPCC) who also develop benign or malignant sebaceous skin tumors (often basal cell or squamous cell).

293 - Gerhardt’s sign is in aortic regurgitation - pulsation of the spleen in the presence of splenomegaly; also Sailer’s sign.

294 - Volkmann contracture is sequelae of compartment syndrome where there is contraction of forearm flexors.

295 - Homer-Wright pseudorosettes is in neuroblastoma - tumor cells arranged about a central space filled with fibrillar extensions of the cells.

296 - Gilbert’s syndrome is with the exception of hemolytic anemias - most common cause of mild unconjugated hyperbilirubinemia from mild decrease glucoronyltransferase activity - responds to phenobarbital - affects up to 7% of population.

297 - Austrian triad is clinical triad of pneumococcal pneumonia - meningitis - and endocarditis (classically aortic valve endocarditis associated with aortic regurgitation); described by Robert Austrian.

298 - Chvostek’s sign is hypocalcemia - in latent tetany - tapping the facial nerve against the bone just anterior to the ear producing ipsilateral contraction of facial muscles.

299 - Eagle-Barrett syndrome is prune-belly syndrome with triad of abdominal muscle deficiency - urinary tract abnormalities - and cryptorchidism.

300 - Desçemet’s membrane is membrane that forms the deepest layer of the cornea and functions as thin basement membrane for endothelium; location where copper is deposited in Wilson’s disease Kayser-Fleischer rings.

eponyms in medicine - part 29


281 - Civatte bodies is aka colloid bodies; in lichen planus; anucleate - necrotic basal cells becoming incorporated into the inflamed papillary epidermis.

282 - Miller Fisher test is in normal pressure hydrocephalus - objective gait assessment before and after 30 cc CSF removed reflecting prognosis for shunting.

283 - Osler-Weber-Rendu disease is hereditary hemorrhagic telangiectasia - larger lesions can be a source of chronic blood loss - systemic emboli - hypoxemia - hepatic dysfunction - and a high-output cardiac failure; important risk factor for brain abscess - especially in affected patients with clubbing - cyanosis - and/or polycythemia; use aminocaproic acid (an antifibrinolytic agent).

284 - Rapoport-Luebering shunt is in red blood cells - pathway converting 1 -3-diphosphoglyceric acid to 2 -3-DPG and then to 3-phosphoglyceric acid; enzyme is diphosphoglycerate synthetase; 2 -3-DPG reduces affinity of hemoglobin for oxygen; 2 -3-DPG rises with alkalosis and decreases with acidosis - result of effect of pH on enzyme.

285 - Alexander’s disease is leukodystrophy-like neurodegenerative disease presenting in infancy or childhood; characterized by Rosenthal fibers.

286 - Hirschprung’s disease is megacolon; congenital disorder characterized by colonic dilatation proximal to an aganglionic - contracted distal colon and rectum; caused by gestational failure of neural crest cells to migrate to distal colon; an AD form has been reported with mutations of the RET gene - and an AR form with mutation of the endothelin-B-receptor gene.

287 - Looser’s zones is radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric - found at the axillary margins of the scapula - lower ribs - neck of the proximal femurs - and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Milkman’s fractures.

288 - Williams’s syndrome is supravalvular aortic stenosis - mental retardation - elfin facies - association with hypercalcemia due to abnormal sensitivity to vitamin D - idiopathic hypercalcemia of pregnancy - loquacious personality - abnormally sensitive hearing; from deletion in elastin gene and probably several adjacent genes.

289 - Burnett’s syndrome is far-advanced milk-alkali syndrome - due to long-standing calcium and alkali ingestion; severe hypercalcemia - irreversible renal failure - and phosphate retention - may be accompanied by ectopic calcification; also Cope’s syndrome.

290 - Prader-Willi syndrome is deletion of 15q11-q13 - paternally derived; uncontrollable hyperphagia after 12 months.

eponyms in medicine - part 28


271 - Rosenthal fibers is inclusions that develop in astrocytes in chronic reactive and neoplastic proliferations; abundant in Alexander’s disease.

272 - Klein-Waardenburg syndrome is Waardenburg syndrome type III.

273 - Boas’s sign is right subscapular pain due to cholelithiasis - <7%>

274 - Behçet’s disease is triad of aphthous ulcers - genital ulcerations - and ocular inflammation (posterior uveitis). Associated with erythema nodosum - cutaneous pustular vasculitis - also synovitis - CNS vasculitis involving brain stem - thrombophlebitis - and positive pathergy response. Described by Turkish dermatologist Behçet in 1937; also known as Silk Road disease due to clustering of cases along the Silk Road.

275 - Kaposi’s sarcoma is low-grade vascular tumor associated with HHV-8 - four forms - classic (older men of Mediterranean or Jewish extraction) - African - organ transplant-associated - and AIDS; differential for skin lesions includes bacillary angiomatosis from Bartonella.

276 - Charcot’s joints is neurogenic joint degeneration - can be secondary to syphilis - peripheral neuropathy.

277 - There are two sets of Charcot's triads, both of which are sets of clinical signs relating to quite separate diseases. One pertains to multiple sclerosis while the other refers to ascending cholangitis. Charcot's triads are named for Jean-Martin Charcot (1825-1893), the French neurologist who first described these combinations of signs in relation to these diseases.

Charcot's triad 1: The combination of nystagmus, intention tremor, and scanning or staccato speech. This triad is sometimes associated with multiple sclerosis but is not, however, as previously considered by some authors, pathognomonic for multiple sclerosis.

Charcot's triad 2: The combination of jaundice; fever, usually with rigors; and right upper quadrant abdominal pain. Occurs as a result of ascending cholangitis. When the presentation also includes hypotension and mental status changes, it is known as Reynolds' pentad.

278 - Rebuck skin window is dermal abrasion technique for testing tissue penetration of neutrophils - scraping forearm - then putting coverslip over it - checking glass for neutrophils.

279 - Mustard procedure is for treating transposition of great vessels - now rarely used; an atrial inversion procedure which connects RA to LV - which pumps out to pulmonary arteries - and connects LA to RV - which becomes systemic pump to aorta; variant uses pericardial or prosthetic intraatrial baffles.

280 - Stransky’s sign is involuntary dorsiflexion of the toes after firmly abducting the 5th digit for 2 seconds - and then acutely letting it go in upper motor neuron defects.

Friday, February 22, 2008

eponyms in medicine - part 27


261 - Lambert - canals of is direct accessory bronchioalveolar connections.


262 - Carnett’s test is head raise - tenderness persists in abdominal wall condition (rectus hematoma) whereas pain due to intraperitoneal disease lessens.

263 - Hardy-Weinberg equilibrium is p^2 + 2pq + q^2 for describing the frequency of these genotypes; sexual reproduction doesn’t cause a constant reduction in genetic variation in each generation but remains constant.

264 - Pendred’s syndrome is autosomal recessive goiter and congenital sensorineural deafness from mutation in pendrin - a transport protein that affects organification of thyroglobulin; also malformations of cochlea and hypothyroidism (40%); pendrin involved in transport of chloride and iodide.

265 - Cullen’s sign is a faintly blue coloration particularly of umbilicus as the result of retroperitoneal bleeding from any cause - but especially in ruptured ectopic pregnancy; also seen in acute pancreatitis (1-2%).

266 - Jefferson fracture is fracture of C1 at more than one site; rarely associated with neurological deficits because of size of spinal canal at this level.

267 - Takayasu’s disease is aortic arch syndrome - pulseless disease; panartertis of the great vessels that’s most common in Asian women.

268 - baghdad boil - Leishmaniasis - This disease is also known as Leichmaniosis, Leishmaniose, leishmaniose, and formerly, Orient Boils, Baghdad Boil, kala azar, black fever, sandfly disease, Dum-Dum fever or espundia.Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly, including flies in the genus Lutzomyia in the New World and Phlebotomus in the Old World. The disease was named in 1901 for the Scottish pathologist William Boog Leishman.

269 - Van Wyk-Grumbach syndrome is primary hypothyroidism associated with precocious puberty and galactorrhea.

270 - Destot’s sign is scrotal hematoma suggesting pelvic fracture.

Thursday, February 21, 2008

eponyms in medicine - part 26


251 - Duncan’s disease is X-linked lymphoproliferative syndrome - normal response to childhood infections but develop fatal lymphoproliferative disorders after infection with EBV; most patients with this syndrome die of infectious mononucleosis.


252 - Gerstmann syndrome is finger agnosia - agraphia - right-left disorientation - and dyscalculia.

253 - Jamaican vomiting sickness is poisoning from hypoglycin A in unripe ackee fruit; hypoglycin A is potent hypoglycemic agent that decreases rate of fatty-acid beta oxidation probably by inhibition of acyl dehydrogenase flavin-dependent oxidation; causes liver damage indistinguishable from Reye’s syndrome.

254 - Adie syndrome, sometimes known as Holmes-Adie's syndrome or Adie's Tonic Pupil, is a neurological disorder which affects the pupil of the eye and the autonomic nervous system.[1] It is caused by damage to the postganglionic fibers of the parasympathetic innervation of the eye, usually by a viral or bacterial infection which causes inflammation, and characterized by a tonically dilated pupil.Adie syndrome presents with three hallmark symptoms, namely abnormal pupil size, loss of deep tendon reflexes and diaphoresis.[1] Other signs may include hyperopia due to accommodative paresis, photophobia and difficulty reading.

255 - clay shoveler’s fracture is fracture of spinous process of C7.

256 - jacksonian march is in simple partial seizures - clonic movements of a single muscle group spreading to involve contiguous regions of the motor cortex.

257 - Goldenhar syndrome is syndrome of oculoauriculovertebral dysplasia characterized by unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar lipodermoid and vertebral anomalies; autosomal dominant.

258 - Schwartz’s dictum is no acid - no ulcer.

259 - Young’s syndrome is clinical features similar to cystic fibrosis - including bronchiectasis - sinusitis - and obstructive azoospermia - but don’t have increased sweat chloride values - nor pancreatic insufficiency - nor abnormal nasal potential differences - nor the CF delta F508 mutation; affected individuals are often middle-aged males identified during evaluation for infertility.

260 - Mayer-Rokitansky-Küster-Hauser syndrome is absence of vagina from abnormality of müllerian development.

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