Quebec platelet disorder
From excessive production of u-PA (urine plasminogen activator) within alpha granules of platelets. Autosomal dominant; characterized by mild thrombocytopenia and moderately severe bleeding 12-24 hours after surgery or trauma; also known as factor V Quebec (as 20% of factor V carried within alpha granules of platelets; u-PA activates plasminogen, degrades intraplatelet stores of factor V).
Applying pressure on the internal jugular vein to dilate cranial veins and increase incranial pressure and assess change in lumbar puncture opening pressure. In spinal stenosis, delayed response.
Queen Anne's sign
In hypothyroidism, sparse eyebrows laterally; apparently it was fashionable to shave the lateral third of the eyebrow during the reign of Queen Anne (1707-1714) in Great Britain.
Swelling of bacterial capsule when exposed to antibody; used for diagnosis of S. pneumoniae, H. influ type B, N. meningitidis groups A and C.
Queyrat, erythroplasia of
Carcinoma in situ or invasive squamous cell cancer of the penile glans described by Auguste Queyrat, French dermatologist, born 1872.
Endocardial infiltrates; associated with cyclosporine and waxing and waning levels of immunosuppresion; of unclear clinical significance; named after patient with this lesion.
In aortic regurgitation, capillary pulsations detected by pressing a glass slide on the patient's lip or by transmitting a light through the patient's fingertips; of questionable utility since also seen in normal individuals.
See Sandblom triad
Congenital syndrome characterized by insulin resistance, acanthosis nigricans, and growth retardation; associated with developmental abnormalities of bones and teeth, polycystic ovarian disease, genitomegaly, and pineal gland hyperplasia; associated with mutation in insulin receptor.
Also known as Raeder's paratrigeminal neuralgia, condition characterized by severe, unilateral headache, facial pain in distribution of ophthalmic division of trigeminal nerve combined with ipsilateral Horner's syndrome; also associated with nasal stuffiness or rhinorrhea. Felt to reflect pathology in location where oculosympathetic fibers exit the internal carotid artery to join the ophthalmic division of the trigeminal nerve. First described in 1918 by George Raeder, Norwegian neurologist.
Paradoxical motion of the infero-posterior left ventricular wall in patients with liver disease and high intraabdominal pressures from hepatomegaly, ascites, splenomegaly or a combination of these.
In deep vein thrombosis, sphygmomanometer cuff placed above knee inflated to 40 mm Hg causing pain at site of thrombosis.
Herpes zoster infection of the geniculate ganglion; facial nerve involvement (ear, palate, pharynx, or neck); pain and vesicles appear in external auditory canal along with hyperacusia, and patients lose sense of taste in anterior 2/3 of tongue while developing ipsilateral facial palsy. Described by James Ramsay Hunt, American neurologist (1872-1937).
Monoclonal light chain deposition disease; distinct from amyloidosis; associated with kappa light chains.
Glucose-free fatty acid cycle; inverse relationship between glucose and free fatty acid use.
Combination of Ghon lesion and involved lymph nodes in tuberculosis.
For evaluating acute pancreatitis at presentation, age>55; WBC>16,000; glucose>200; AST>250; LDH>350. During initial 48 hrs, base deficit>4; BUN increase>5; fluid sequestration>6L; Ca<8; hematocrit decrease>10; pO2<60. Mortality with 0-2 criteria, <5%; 3-4, 15%; 5-6, 40%; 7-8, 100%.
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.
Small bowel obstruction by trichobezoar, named after Rapunzel, the German princess in Grimms' fairytales who let her golden hair down from her tower to facilitate a tryst with her lover.
Rashkind's atrial septostomy
For treating transposition of great arteries, tricuspid atresia, and mitral atresia; catheter-based creation of atrial septal defect via foramen ovale.
Aneurysm of the PA or pulmonary arteriole within or adjacent to a tuberculosis cavity.
Progressive childhood disease characterized by severe epilepsy, hemiplegia, dementia, and inflammation of the brain potentially from autoantibodies to GluR3 antigen.
For treating transposition of great vessels with pulmonary stenosis, patching ventricular septal defect such that LV outflow passes through VSD into aorta, and a valved conduit or graft is placed between the RV and pulmonary arteries.
A diverticulum involved in development of pituitary gland, vestigial remnants are the origin of craniopharyngioma.
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.
Rebuck skin window
For assessing inflammatory response, dermal abrasion technique to visualize tissue penetration of neutrophils, scraping forearm, then putting coverslip over it, checking glass for neutrophils.
Boundary between the central nervous system and peripheral nervous system, corresponding to entrance point of posterior spinal roots.
In Hodgkin's lymphoma, giant macrophage-like cells with two nuclei.
Autosomal recessive disorder from absence of the enzyme alpha-phytanic acid alpha-hydroxylase, leading to accumulation of phytanic acid. Treated with large amounts of nicotinic acid or triparanol, chemicals that inhibit lipid synthesis. Dryness and scaling similar to the appearance of icthyosis develop, associated with neuropathy.
Branchial arch 2.
Comparing the relative thickness of the mucous glands with the total thickness of the airway wall; increased in patients with chronic bronchitis (normally < 0.4).
Partial androgen insensitivity; from mutation in androgen receptor; male pseudohermaphroditism characterized by hypospadias, hypogonadism, gynecomastia, normal XY karyotpe, X-linked recessive.
In 25% of Leydig cell tumors, intracytoplasmic rod-shaped crystalloids.
Vocal cord polyposis in female smokers, 50s-70s.
Reitan trail test
Timed connect-the-number test for detecing alterations in mental status; time >60 s pathologic in all age groups.
Reactive arthritis, triad of arthritis, urethritis, and conjunctivitis described by Reiter in 1916; 80% possess HLA-B27; associated with Shigella flexneri; develops in 20% of exposed B27+ individuals. Triad present in 1/3 of patients; incidence estimated as 3.5/100K in males under age of 50. Associated with balanitis circinata (penis) and keratoderma blenorrhagica. Reiter was a Nazi physician and war criminal, participating in experiments on prisoners at Buchenwald.
Inhibitory cells in the ventral horn of the spinal cord.
Childhood developmental disorder almost exclusively affecting girls who develop normally for the first few months of life before undergoing a period of regression. Patients develop stereotypic hand-wringing movements, loss of speech, ataxia, and episodes of hyperventilation. From mutation in MECP2 on X chromosome which binds to single methylated CpG base pairs and "silences" other genes. This results in excessive transcriptional noise.
Retzius, space of
The preperitoneal space anterior to the bladder.
Retzius, veins of
Numerous small veins in the retroperitoneum that connect the retroperitoneal viscera to the posterior abdominal wall; may be dilated in portal hypertension.
Rare disease characterized by fatty change in liver and encephalopathy that in its most severe forms may be fatal; associated with VZV and influenza virus B in children given aspirin.
Charcot's triad plus altered mental status and shock in cholangitis.
In retrograde amnesia, recent memories are more likely to be lost; hypothesized by Ribot in 1881.
Small subpial or subependymal foci of metastatic tuberculosis lesions in meninges or brain parenchyma.
The evolution of chronic lymphocytic leukemia to a diffuse large B cell lymphoma with high fever, weight loss, enlarging lymph nodes, and hepatosplenomegaly.
Incarcerated or strangulated hernia involving only one sidewall of the bowel, which can spontaneously reduce, resulting in gangrenous bowel and perforation within the abdomen without signs of obstruction.
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.
Elongated, right lobe of the liver that projects downward towards the iliac crest, especially in individuals with a lean build.
Unknown etiology, marked by glandular atrophy, hypothyroidism, and replacement of the thyroid by fibrous tissue with adhesion to surrounding structures.
Bruit over closed eyes in thyrotoxicosis.
On plain supine abdominal xrays, pneumoperitoneum will cause increased demarcation of the bowel wall. Named after Leo Rigler (1896-1979), an American radiologist.
Hereditary sensory and autonomic neuropathy type III (familial dysautonomia), autosomal recessive disorder that commences in infancy and is characterized by conspicuous autonomic dysfunction (absent tearing, labile temperature, and blood pressure), and accompanied by absent taste sensation, absent fungiform papillae on tongue, impaired pain and temperature sensation, and areflexia. Occurs among Ashkenazi; associated with mutation in IKBKAP gene.
Vibrating tuning fork placed against mastoid and then next to ear; in sensorineural loss, air conduction is better than bone conduction; in conduction loss, bone conduction better than air conduction.
For delivery of the fetal head by pressing with the tips of the fingers upon the perineum via the anus; alternatively, protection of the perineum by providing support of the perineum with pressure over the coccygeal area.
Autosomal recessive syndrome characterized by absence of leg bones, hypoplastic arms, bilateral cleft lip and cleft palate, prominent eyes. Due to mutation in ESCO2 gene.
Joining of two acrocentric chromosomes at the centromeres with loss of their short arms to form a single abnormal chromosome; acrocentric chromosomes include Y chromosome and chromosome numbers 13, 14, 15, 21, and 22.
Short stature syndrome, mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies." Due to mutation in ROR2.
Rickettsial illness caused by Rickettsia rickettsii, spread to human by ixodid ticks; characterized by sudden onset of fever, headache, myalgias, purpura. First recognized in 1896 in Snake River Valley of Idaho. However, name is a misnomer as it occurs throughout the U.S.
Small congenital ventricular septal defect <0.5 cm in diameter (most are muscular); Henri L. Roger, French physician, 1809-1891.
Small outpouchings of the gallbladder mucosa that may penetrate into and through the muscle wall; their prominence in inflammation and gallstone formation (e.g. chronic cholecystitis) suggests that they are acquired herniations.
In the first week of Chagas disease, unilateral periorbital edema and swelling of the eyelid associated with reduviid bug of eye.
Long QT syndrome without deafness, inherited as autosomal dominant.
Anterior spondylitis, focal destruction of anterior borders of vertebral body, resulting in "shiny corner" sign. Seen in ankylosing spondylitis.
Patient stands feet together, eyes open and then closes both eyes for 20 to 30 sec without support; positive test with eyes open suggestive of cerebellar ataxia; with eyes closed suggestive of impaired proprioception (e.g. from pathology of dorsal columns).
In thoracic outlet syndrome, abduction of the shoulders to 90 degrees, flexion of the elbows to 90 degrees, and opening and closing the hands slowly for 3 minutes causing hand pallor, ulnar dysesthesias, diminished pulse.
Sinus histiocytosis with massive lymphadenopathy (mainly neck), fever, polyclonal hypergammaglobulinemia; extranodal sites involved in 43%; first described in 1969.
In aortic regurgitation, hepatic pulsations.
In thyrotoxicosis, tremor of the closed eyelids.
A pharyngeal fossa behind the eustachian orifice where nasopharyngeal carcinoma most commonly occurs; named after Italian anatomist.
Eosinophilic inclusions that develop in astrocytes in chronic reactive and neoplastic proliferations; abundant in Alexander's disease.
Factor XI deficiency; described by Rosenthal in 1953; also referred to as plasma thromboplastin antecedent deficiency. May be associated with bleeding. Predominantly in patients of Ashkenazi background.
Aortic valve replacement involving translocation of native pulmonary valve into aortic position with coronary artery relocation followed by reconstructing RV outflow tract with pulmonary homograft.
Tonic pupils (generally bilateral), anhydrosis, and areflexia which may appear in a different pattern distribution; possible link with Holmes-Adie syndrome.
Internuclear ophthalmoplegia; caused by lesions in medial longitudinal fasiculus; bilateral lesions almost always due to multiple sclerosis; unilateral lesion often due to vascular occlusion.
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.
Autosomal recessive disorder characterized by poikilodermatous skin changes that develop in infancy, premature aging, juvenile cataracts, sparse hair, short stature, skeletal defects, dystrophic nails, and predisposition for malignancies including osteosarcoma.
In bacterial endocarditis and other retinal hemorrhagic conditions, a round white spot surrounded by hemorrhage (secondary to microemboli in endocarditis).
Poorly defined defects in hepatic uptake and storage of bilirubin, resulting in jaundice; resembles Dubin-Johnson syndrome, but liver is of normal appearance. Named after Filipino internist, Arturo Rotor (1907-1988).
Rotter's lymph nodes
Lymph nodes between the pectoralis minor and pectoralis major; can be site of involvement in breast cancer.
Pericytes or periendothelial cells.
Hereditary areflexic dystasia; phenotypic variant of Charcot-Marie-Tooth (CMT-1B) associated with postural tremor and ataxia; autosomal dominant inheritance.
Anastomosis between small bowel and small bowel that is distal from the cut end; used as part of e.g. gastric bypass or gastrectomy. Named after Swiss surgeon Cesar Roux.
In appendicitis, pain in the right lower quadrant when applying left-sided pressure or quick withdrawal of pressure (i.e. referred rebound tenderness).
See Smith-Lemli-Opitz syndrome. "RSH" refers to first initial of the first three patients with Smith-Lemli-Opitz syndrome.
Congenital condition characterized by mental and growth retardation, short broad thumbs and/or halluces, and typical facial features. Associated with mutation in CREB-binding protein.
Sensory receptor nerve ending for heat; not lamellated.
Test for capillary fragility carried out by increasing venous pressure in forearm with BP cuff and then inspecting the skin for petechial eruptions. Also called Hess test; associated with scurvy.
Distended, eosinophilic inclusions in endoplasmic reticulum of plasma cells engaged in active synthesis of immunoglobulins. Seen in Waldenström's macroglobulinemia.
Russell viper venom time
Sensitive screening test for lupus anticoagulant activity. Russell viper venom directly activates factor X to Xa and requires phospholipid; from the venom of Vipera russelli. In the presence of lupus anticoagulant, prolongs time due to the presence of antiphospholipid antibody.
Lanugo, dry skin, and hand calluses, associated with purging and bulimia.
Association of macrocephaly, intestinal polyposis, and pigmentation of the penis; related to Bannayan-Zonana syndrome.
Sabin-Feldman dye test
Serum titer rises in toxoplasma infection.
For growing fungi, low pH of medium and chloramphenicol and cycloheximide.
Craniosynostosis syndrome characterized by craniofacial and limb anomalies; associated with mutation in TWIST transcription gene.
In aortic regurgitation, pulsation of spleen in the setting of splenomegaly. See also Gerhardt's sign.
The coexistence of hiatal hernia, gallbladder disease, and diverticulosis in a patient; named after Saint, a South African surgeon; no pathophysiologic basis for the coexistence of all three processes, emphasizing that more than one disease process may be responsible for a patient's symptoms.
Reduction in left ventricular diastolic distensibility with increase in coronary flow and perfusion pressure.
Fracture involving growth plate. Six types: type I, transverse fracture through growth plate; type II, fracture through growth plate and metaphysis, excluding epiphysis (75% incidence); type III, fracture through growth plate and epiphysis, sparing metaphysis; type IV, fracture through growth plate, metaphysis, and epiphysis; type V, compression fracture of growth plate; type VI, injury to periphery of physis, leading to bony bridge formation and angular deformity.
Deflection of veins at AV crossings in hypertensive retinopathy (grade 2); see also Bonnet's sign and Gunn's sign.
Artery found within and nourishes round ligament of uterus.
Nasal polyps, bronchial asthma, aspirin sensitivity; associated with excessive production of cysteinyl leukotrienes both before and after aspirin challenge.
San Joaquin valley fever
Coccidiomycosis, from infection with Coccidiomycosis imites.
In hemobilia, triad of gastrointestinal bleeding, biliary colic, and jaundice. Described by surgeon, Philip Sandblom (1903-2001)
Lysosomal storage disorder, a GM2 gangliosidosis, from mutation in beta subunit of both hexosaminidase A and B; clinically similar as Tay-Sachs disease but more rapid progression of disease.
Association of torsional dystonia, mainly involving the neck and upper extremities, with either esophageal reflux or hiatus hernia; presents in childhood; at times mistaken for seizures.
Mucopolysaccharidosis, four types (A-D) from deficiency of enzymatic steps necessary for removal of N-sulfated or N-acetylated glucosamine residues from heparan sulfate, leading to mental retardation, CNS disorders, coarse facies.
Congenital syndrome hypoparathyroidism, mental retardation, facial dysmorphism, and growth failure. Associated with mutation in tubulin-specific chaperone E. Mutation in same gene associated with Kenney-Caffey syndrome.
Modification of the Norwood procedure for hypoplastic left heart syndrome. Instead of placement of a Blalock-Taussig shunt for pulmonary blood flow, a right ventricle to pulmonary artery conduit is used.
Infantile neuronal ceroid lipofuscinosis, CLN1, associated with mutation in palmitoyl-protein thioesterase-1 (PPT1).
Santorini, duct of
Dorsal duct of pancreas, embryologically, the biggest duct, clinically the smaller pancreatic duct.
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.
Hirschsprung's disease with renal agenesis, polydactyly, hypertelorism, and deafness.
Sappey, veins of
Retroperitoneal veins located around liver and diaphragm connecting epigastric and internal mammary veins with azygos; become dilated in portal hypertension.
Criteria used for making diagnosis of antiphospholipid syndrome, including vascular thrombosis, spontaneous abortions, and presence of anticardiolipin and lupus anticoagulant. Antiphospholipid syndrome present if one of the clinical and one of the laboratory criteria present.
Saturday night palsy
Radial neuropathy from compression at the spiral groove.
For diagnosing Sjögren's syndrome, measurement of whole mouth saliva production (analogous to Schirmer's test for tears) by asking patients to chew a gauze sponge; normal is increase in weight of 2.75 g over 2 min.
Fascia around edge of subcutaneous inguinal ring.
Extensor plantar response by squeezing Achilles tendon suggesting upper motor neuron defect.
Spontaneous intracranial hypotension, a cause of headaches; characterized by orthostatic headaches. Leakage of CSF is the most common cause.
Idiopathic capillaritis in which inflammation weakens capillaries, causes petechial lesions resembling cayenne pepper.
Normal diamond-shaped window formed by the nail bases when ends of opposing ends of fingers are placed together. In clubbing, this window is not seen.
Esophageal rings and webs in lower esophagus, located at or just above the squamocolumnar junction; most common cause of intermittent solid food obstruction.
Laminated concretions composed of calcium and proteins, seen in granulomatous diseases (e.g. sarcoidosis).
Cochelosaccular dysplasia of the inner ear.
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.
Juvenile kyphosis characterized by end-plate irregularities and wedging of the vertebral body without loss of bone density, develops in adolescence.
For testing immune status to Cornyebacterium diphtheriae, intradermal injection of 0.1 mL of purified standardized toxin; if no inflammation, antitoxin present.
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.
In endodermal sinus tumor (yolk sac tumor), tumor cells arranged around a capillary.
For determining cause of B12 deficiency. First stage, measuring cobalamin (B12) absorption by measuring urinary excretion of p.o. radioactive cobalamin over 24 to 48 hours (after i.m. injection of B12 to saturate the transcobalamins and to "flush" orally absorbed radiolabeled B12 into the urine). Second stage, test repeated with oral intrinsic factor, which should normalize B12 absorption in pernicious anemia but not in intestinal malabsorption.
Schimke immuno-osseous dysplasia
Autosomal recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency; associated with mutation in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1).
Congenital, autosomal recessive condition characterized by seizures, spasticity, and mental retardation with high protruding forehead, midface retraction, hypertelorism, and prominent ear lobes. Described in 1978.
Used for diagnosing Sjögren's syndrome, measure quantity of tears secreted in 5 minutes in response to irritation from a filter strip placed under each lower eyelid; normal young person moistens 15 mm; 33% of elderly wet only 10 mm in 5 minutes; in Sjögren's syndrome, <5 mm in 5 min, 85% sensitivity, 85% specificity.
Morphine and scopolamine.
Schmid metaphyseal chondrodysplasia
A type of chondrodysplasia due to mutation in collagen 10A1, mechanical pressure reduces growth; associated with bow legs and coxa vara.
Type II polyglandular autoimmune syndrome, coexistent adrenal and thyroid disease, sometimes accompanied by diabetes.
Herniated nucleus pulposus; resembles osteomyelitis.
Association of IgM monoclonal protein (e.g. as with Waldenström's macroglobulinemia) with erythematous, urticarial skin lesions.
Measure distance between two marks on the skin during forward flexion; increase in distance decreased in ankylosing spondylitis.
Pigment in trophozoite, seen in Plasmodium vivax.
Blanching observed after intradermal injection of 0.1 mL of antitoxin to erythrogenic toxin of scarlet fever into an area of scarlet fever rash within 12-24 h. The test has to be performed during the very early phase of the eruption before exudation into the lesion makes skin changes irreversible. See also Dick test.
In otosclerosis, reddish hue behind an intact tympanic membrane, due to increased vascularity of cochlear promontory in otosclerotic lesion. Seen in 10% of otosclerosis.
Two intravenous injections of sublethal lipopolysaccharide, 24 hrs apart, causing DIC in rabbits from widespread intravascular thrombus formation on surfaces of endothelial cells; TNF obligatory mediator.
No acid, no ulcer.
Defect in primary homeostasis, prolonged PT, deficiency in platelet coagulant activity characterized by a failure to expose phosphatidylserine (PS) to the outer leaflet of the platelet plasma membrane.
Rare autosomal recessive disorder characterized by "bird-headed" facial appearance, growth retardation, and microcephaly with mental retardation; associated with mutation in gene encoding ataxia-telangiectasia and RAD3-related protein (ATR).
Scarlet fever, aka scarlatina, caused by Strep pyogenes exotoxin, first described in 1626.
Hereditary progressive dystonia with marked diurnal fluctuation from defect in GTP cyclohydrase I, cofactor for synthesis of dopamine; dystonia treatable with levodopa. Autosomal recessive.
In eyeball globe rupture, fluorescein streaming away from puncture site in a tear drop pattern.
Guide wire-assisted vascular cannulation, i.e., small-bore needle first used to enter vessel, then wire passed through needle, needle removed, leaving wire in place for guiding cannulation of vessel, developed in 1953.
Alpha heavy chain disease, a rare B cell lymphoproliferative disease characterized by infiltration of the lamina propria of the small intestine with lymphoplasmacytoid cells that secrete truncated alpha chains.
Cricoid pressure during intubation. Described by Brian Sellick in 1961, an anesthesiologist at Middlesex Hospital in London.
In thoracic outlet syndrome, triad of supraclavicular tenderness; hand paleness (or paresthesias) on elevation; and abduction and adduction weakness of fourth and fifth fingers.
General adaptation syndrome; reactions and physiological changes following exposure to stress.
Semmes-Weinstein nylon test
Nylon monofilament developed in 1950s for sensation testing; can be used in diabetic foot screening with a 5.07 monofilament which delivers 10 g of force.
In benign positional vertigo, a liberatory maneuver where the patient is moved rapidly from side to side; not favored in the U.S. (also see Epley maneuver and Brandt-Daroff exercises).
Pemphigus erythematosus; a localized variant of pemphigus foliaceus confined to seborrheic sites.
A double-balloon system tube, one for stomach, one for esophagus, for tamponade of bleeding varices.
Human ehrlichiosis from Ehrlichia sennetsu, generally not fatal, occurring mainly in Japan.
Variant of Mustard procedure.
Sertoli cell tumors
Testicular tumor derived from the sex cord.
Apophysitis or osteochondrosis of the calcaneus, common (but frequently source of heel pain), condition occurs before or during the peak growth spurt, often resolves two weeks or two months after initiation of conservative treatment.
Found in cutaneous T-cell lymphoma, T-helper cells that characteristically form band-like aggregates within the superficial dermis and invade the epidermis as single cells and small clusters (Pautrier's microabscesses).
Rare special variant of cutaneous T-cell lymphoma characterized by generalized or universal erythroderma, peripheral lymphadenopathy, and cellular infiltrates of atypical lymphocytes (Sézary cells) in the skin and blood.
See Waardenburg's syndrome type IV.
Agenesis of the corpus callosum associated with spontaneous recurrent hypothermia and hyperhidrosis.
Postpartum pituitary necrosis, syndrome results from sudden infarction of the anterior lobe precipitated by obstetric hemorrhage or shock (in pregnancy, pituitary enlarges to almost twice its normal size, compressing blood supply).
In aortic regurgitation, pulsation of the cervix (J Indiana State Med Assoc 1959;52:1283-89).
A radiological line drawn between the medial border of the femoral neck and the superior border of the obturator foramen; interrupted in dislocations and fractures.
Zinc deficiency seen in Iran, associated with short stature and aspermia.
An alkalinizing citrate solution used to treat e.g. renal tubular acidosis.
Series of four obstructive or potentially obstructive congenital left-sided cardiac lesions: supravalvular mitral ring, parachute deformity of mitral valve, subaortic stenosis, and coarctation of the aorta.
Acute fulminant cardiac beriberi (in Japanese, sho is acute damage, shin is heart).
Velo-cardio-facial syndrome, associated with cleft palate, cardiac anomalies, typical facies, and learning disabilities; may result from mutation in same gene as DiGeorge syndrome given clinical overlap between the two syndromes. Maps to 1.5-3.0 Mb region of 22q11.2.
Eosinophilic fasciitis, characterized by acute onset of erythema, swelling, induration of the extremities, and eosinophilia, often following exercise; epidermis and dermis normal.
Combination of neutropenia, metaphyseal dysplasia, and exocrine pancreatic insufficiency, associated with recurrent infections in the first year of life in the sinuses, bones, lungs, skin and urinary tract, fatty replacement of liver. Associated with increased risk of aplasia, myelodysplasia, and leukemia; life expectancy is 35 years. Second most common cause of pancreatic insufficiency in children after cystic fibrosis.
Multiple system atrophy, a degenerative disorder characterized by parkinsonian features (leading to postural hypotension, anhidrosis, disturbance of sphincter control, impotence, etc.) and signs of more widespread neurologic involvement (pyramidal or lower motor neuron signs and often a cerebellar deficit).
Linear hyperpigmented areas over choroidal vessels in hypertensive retinopathy.
See Kartagener's syndrome.
Silk glove sign
Indirect hernia sac in the pediatric patient; the sac feels like a finger of a silk glove when rolled under the examining finger.
Silk Road disease
See Behçet's disease.
Syndrome characterized by lateral asymmetry and low-birth-weight dwarfism.
Hypopituitarism, especially in the presence of cachexia (e.g. from Sheehan's syndrome).
For testing Achilles tendon rupture, lack of plantar flexion after squeezing calf muscles suggests rupture of tendon; see Thompson's test.
In tuberculosis, nodule in subapical region which develops from hematogenous spread from initial infection in lower half of lung.
Post-coital test, done 2-4 hrs after intercourse to assess number and motility of sperm that have entered the cervical canal.
Small, benign laryngeal polyp, usually induced by chronic irritation, such as excessive use of the voice, and is associated most commonly with heavy cigarette smoking. Uually localized to the true vocal cords.
Multiple endocrine neoplasia (MEN) type IIa: pheochromocytoma, medullary carcinoma of the thyroid, and hyperparathyroidism due to hyperplasia or tumor. Associated with mutation in RET (a receptor tyrosine kinase).
For treating peptic ulcer disease in early 1900s, powder containing 600mg of magnesium carbonate and 600mg sodium bicarbonate alternating with a powder containing 600mg of bismuth subcarbonate and 1200 to 1800mg of sodium bicarbonate; associated with milk alkali syndrome.
Sister Mary Joseph nodule
Metastasis to the umbilicus from an abdominal malignancy, especially gastric. English surgeon Sir Hamilton Bailey named this finding after Sister Mary Joseph (1856-1939), a superintendent nurse at St. Mary's Hospital in Rochester, Minn., who noted the association between periumbilical nodules and intraabdominal cancer.
Removal of benign thyroglossal duct cysts where the cyst, the central portion of the hyoid bone, and the entire thyroglossal tract are removed.
Bath in which one sits to relieve pain from anorectal disorders
Roseola infantilis, also known as exanthem subitum, caused by HHV 6, described in 1910.
Metabolic disorder characterized by icthyosis, mental retardation, and spastic diplegia or tetraplegia; due to deficiency of fatty aldehyde dehydrogenase.
Autoimmune disorder with lymphocytic infiltration affecting salivary and lacrimal glands, associated with dry mouth and dry eyes (keratoconjunctivitis sicca). May also have either interstitial pulmonary fibrosis or a lymphocytic infiltration of the alveolar walls. Also may be associated with malignant transformation to lymphoma.
Paraurethral glands in women.
With large pleural effusion or area of consolidation, increased resonance above effusion.
Lower-half headache, characterized by unilateral pain involving maxilla, teeth, ear, mastoid, and base of nose; tendency for long remissions and serial attacks.
Mucopolysaccharidosis (VII), from beta-glucoronidase deficiency, resulting in hepatosplenomegaly, physical deformity from defect in degradation of dermatan sulfate and heparan sulfate.
Autosomal recessive disorder in cholesterol synthesis caused by mutation in the sterol delta-7-reductase gene; characterized by constellation of congenital anomalies: microcephaly, mental retardation, hypotonia, incomplete development of the male genitalia, short nose with anteverted nostrils, failure of masculinization; also known as RSH syndrome after initials of surnames of three families with syndrome.
Brachycephaly, growth retardation; associated with hair and nail pulling, reversed sleep pattern, and polyembolokoilamania (insertion of foreign bodies into body orifices); associated with deletion in 17p11.2 (or RAI1 gene). Compare with Potocki-Lupski syndrome, which is associated with duplication of 17p11.2.
Opposite of Colle's fracture; fracture of the distal radius, but from falling on the dorsum of the hand.
Triad of livedo reticularis, stroke-like episodes, and hypertension; associated with antiphospholipid antibodies.
Subcorneal pustular dermatosis; rare, chronic , recurrent pustular eruption characterized by subcorneal pustules that contain abundant neutrophils.
Rebound hyperglycemia following an episode of hypoglycemia due to counterregulatory hormone release.
Strong absorption band in blue region for hemoglobin.
Cerebral gigantism with excessive growth in first 2-3 years of life, mild mental retardation, and delayed development; associated with mutation in NSD1; shares features with Weaver syndrome.
1918 influenza with 20-100 million deaths worldwide with 2.5% mortality (influenza normally 0.1% mortality); influenza A H1N1 subtype.
Hernia through the linea semilunaris, also known as spontaneous lateral ventral hernia.
Congenital elevation of the scapula.
For diagnosing cervical radiculopathy, exerting downward pressure on the head while rotating the head towards the symptomatic side creating pain radiating into affected extremity.
Erysipelas; also refers to ergotism. Classically an epidemic in the Middle Ages caused by consumption of rye contaminated by the ergot fungus, leading to chronic ergotism characterized by intense burning pain and gangrene of feet, hands, and whole limbs due to vasconstrictive properties of ergot. Acute ergotism characterized by manic episodes and hallucinations due to serotonin antagonism of ergot related to LSD. St. Anthony's fire may also refers to erysipelas.
St. Jude valve
Prosthetic valve, bileaflet, with two semicircular discs that pivot between open and closed positions without supporting struts, first used in 1977.
St. Vitus's dance
See Sydenham's chorea.
Ball and cage heart valve, oldest prosthetic valve in continuous use, first used in 1965.
Elevation of liver function tests due to cholestasis in renal cell carcinoma.
Also known as progressive supranuclear palsy.
Myotonic muscular dystrophy, i.e. myotonic dystrophy type 1.
Polycystic ovarian disease.
Incomplete and infrequent blinking in Graves's disease.
Parotid duct, enters oral cavity opposite crown of second maxillary molar tooth.
Extensive and symptomatic febrile form of erythema multiforme, more common in children; 1-6 cases/million person-years.
Generally extranodal NK/T-cell lymphoma, tend to be positive for EBV. Leads to gradual ulceration of nose and mid-face cartilage and bone. Also known as "lethal midline granuloma."
Angiosarcoma arising out of chronic lymphedema; e.g. following mastectomy. Described in 1948.
Mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, some forms associated with a autosomal dominant negative mutation in the human COL11A2 gene encoding the alpha 2(XI) chain; another form of Stickler syndrome from mutation in COL2A1.
Chronic disorder of involuntary stiffness, painful muscle spasms, and rigidity, predominantly in the axial muscles; often occurs in conjunction with autoimmune diseases, e.g. type I diabetes, associated with circulating antibodies to glutamic acid decarboxylase.
Still's disease, adult onset
Polyarthritis associated with sudden onset of high spiking fever, sore throat, and an evanescent erythematous salmon-colored rash.
Described by George Still in 1909; normal vibratory midsystolic murmur; an innocent type of murmur.
Victims sympathizing with victimizer, e.g., kidnapper; described after incident in summer of 1973 in Stockholm where hostages were taken in a failed bank robbery and after end of their captivity in six days, the hostages resisted rescue.
In superior vena caval obstruction, enlargement of neck with non-pitting edema.
Syncope associated with complete heart block (or other types of bradycardia).
Hernia repair using tension-free intraparietal prosthetic mesh.
An upper motor neuron sign where there is involuntary dorsiflexion of the toes after firmly abducting the 5th digit for 2 seconds, and then acutely letting it go.
A psychological stress test, also used for checking frontal function, where patients are tested for the ability to read off the color of text where the text spells a different color.
An upper motor neuron sign where there is involuntary pronation of the forearm/wrist with passive extension and flexion of the arm at the elbow.
Factor X; also known as Stuart-Prower factor. Named after patients Audrey Prower and Rufus Stuart.
See Stuart factor.
Association of port-wine stain with vascular malformations in the eye (glaucoma) and leptomeninges and superficial calcifications of the brain; attributed to faulty development of certain mesodermal and ectodermal elements, and associated with mental retardation, seizures, hemiplegia, and radiopacities in the skull.
Watershed region between sigmoid and superior rectal artery in ileocecal region; see also Griffth's point.
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.
For treating esophageal varices, esophageal and gastric devascularization, esophageal transection.
Microangiopathy of the inner ear, retina, and brain leading to deafness, retinal artery occlusion, and encephalopathy.
Major aphthous stomatitis; recurrent aphthous stomatitis with large deep ulcers >1 cm, may leave scarring; unknown etiology.
Acute febrile neutrophilic dermatosis or Sweet syndrome, initially described in 1964 by Robert Sweet. It is characterized by fever, neutrophilic leucocytosis, abrupt appearance of erythematous, painful, cutaneous plaques, and dense dermal infiltrate consisting of mature neutrophils without vasculitis signs.
In pediatrics, acquired hypoplastic lung that develops after severe obliterative bronchiolitis associated with bronchiolar obstruction, bronchiectasis, and distal air-space destruction.
XY gonadal dysgenesis.
Postinfectious chorea appearing several months after a streptococcal infection with subsequent rheumatic fever. Chorea typically involves the distal limbs and is associated with hypotonia and emotional lability; improvement occurs over weeks or months and exacerbations occur without associated infection occurrence; also known as St. Vitus's dance.
Cerebral aqueduct of the midbrain that connects the third and fourth ventricle.
Amputation at the ankle with removal of the malleoli and placement of the heel pad over the end of the remaining tibia; devised in 1842.