Aortic arch syndrome, pulseless disease; panartertis of the great vessels that is most common in Asian women. Described in 1908 by Takayasu, an ophthalmologist.
Apical ballooning syndrome, characterized by acute onset of chest pain, ECG changes, cardiac marker release and transient extensive akinesia of the apical portions of left ventricle without significant coronary stenosis.
Uromodulin, major component of renal casts; 30-50mg secreted per day by cells in thick ascending limb; homologous to GP2, a protein secreted from the acinar cell and a major component of plugs in noncalcific chronic pancreatitis.
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 Tangier disease; gene mediates efflux of cholesterol from cells. Named after small island in Chesapeake Bay where disease first identified in five-year-old boy.
Stages of sexual development in puberty; described by James Tanner.
Perineural cyst found in the lower spinal cord.
Glycogen storage disease type VII, deficiency of muscle phophofructokinase, presents as early onset of fatigue and pain with exercise, resulting in myoglobinuria.
Icthyosiform erythroderma with hair abnormality and mental and growth retardation. Also known as IBIDS syndrome (i.e. ichthyosis + BIDS syndrome (hair-brain syndrome), with BIDS standing for brittle hair, intellectual impairment, decreased fertility, and short stature). Tay in Tay syndrome different Tay from Tay in Tay-Sachs.
Autosomal recessive sphingolipidosis; GM2 gangliosidosis, results from mutations that affect alpha subunit of hexosaminidase A gene and cause a severe deficiency in hexosaminidase A; blindness and cherry-red spot (see also Sandhoff's disease with similar symptoms; involves beta subunit of both hexosaminidase A and B); previously called "amaurotic idiocy." Fatal in early childhood.
Mostly whitish nails with a distal band of reddish brown; may be seen with aging and in people with chronic diseases such as cirrhosis of the liver, congestive heart failure, renal disease, and diabetes; seen in 10% of patients with uremia.
Intra-vitreous hemorrhage associated with subarachnoid hemorrhage.
Sudden and sharp chest pain in pediatric settings, from precordial catch or sudden restrictrion in pleural movement. Described by Miller and Texidor in 1955.
German measles, aka rubella or rötheln, caused by rubivirus, described in 1881.
To test for hip flexion deformity due to e.g. osteoarthritis, while lying supine, patient flexes unaffected leg at the hip. If patient is unable to keep contralateral leg flat, then test is positive. Other variants of test exist.
Verifies if gastroc-soleus complex intact: squeeze calf belly, foot should plantar flex. Lack of plantarflexion indicates Achilles tendon rupture. See also Simmond's test.
Cryptic antigen in membranes of erythrocytes, platelets, and glomerular capillary endothelial cells exposed by S. pneumoniae-derived neuraminidase removal of sialic acid.
Myotonia congenita. Autosomal dominant. From mutation in skeletal muscle chloride channel 1 (CLCN1). Characterized by muscle stiffness and inability to relax after muscle contraction.
Posterior internodal tract in atrial conduction system.
Positive sign when penis points towards lesion seen radiographically; see also John Thomas sign.
Benign inflammation and swelling of costochondral and costosternal joints which are painful on palpation; may be perceived as breast pain.
Fracture seen in older adolescents in which the anterolateral portion of the distal tibial epiphyseal plate is avulsed from the medial portion of the plate by the anterior tibiofibular ligament.
A sensation of tingling or pins and needles felt in distal extremity when percussion is made over the site of an injured nerve, as in carpal tunnel syndrome; it indicates a partial lesion or early regeneration of the nerve; 60% sensitive, 67% specific.
Transient hemiparesis in postictal period, resolves over a period of 0.5-36 hours, suggests focal brain lesion as cause.
The peritoneal reflections of the ascending and descending colon.
Idiopathic inflammation of the cavernous sinus producing painful palsy of third, fourth, or sixth cranial nerve.
Pharyngeal bursa, located above the pharyngeal tonsil in the midline of the posterior wall of the nasopharynx; remnant of embryonic communication between the anterior tip of the notochord and the roof of the pharynx.
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.
AP view with the X ray tube angled caudad to show the occipital bone.
In aortic regurgitation "pistol shot sounds" referring to booming systolic and diastolic sounds over the femoral artery.
A crescentic space about 12 cm wide, bounded medially by the left sternal border, above by an oblique line from 6th costal cartilage to the lower border of the 8th or 9th rib in the mid-axillary line, and below by costal margin. Usually tympanitic because of stomach but can be affected by emphysema, pleural effusion, or splenomegaly.
First arch syndrome, mandibulofacial dysplasia, resulting in malar hypoplasia with down-slanting palpebral fissures, defects in the lower eyelids, deformed external ears, and sometimes abnormalities of the middle and internal ears. Autosomal dominant, due to mutation in trecle gene, TCOF1. Described by Edward Treacher Collins, an English surgeon and ophthalmologist (1862-1932).
Suspensory muscle of the duodenum which supports the duodenojejunal flexure. Separates upper from lower gastrointestinal bleeding.
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.
Waddling gait in people with weakness or paresis of gluteal muscles; seen in progressive muscular dystrophy.
Sign of weakness of gluteus medius muscle seen when standing on one leg, failure to elevate contralateral side of pelvis. May be due to congenital dislocation of hip, trochanteric fracture, polio, or spinal nerve root lesions with muscule atrophy.
Also known as dysplasia epiphysealis hemimelica, asymmetric limb deformity due to cartilaginous overgrowth of a tarsal or carpal bone, less often other bones.
French<unk> for Virchow's node.
Triad of unilateral deafness due to eustachian tube involvement, neuralgia affecting branches of the trigeminal nerve, and defective mobility of the soft palate due to nasopharyngeal cancer.
In hypocalcemia and latent tetany, carpal spasm induced by occluding the brachial artery for 3 min with an inflated BP cuff.
Also known as tache cerebrale, the red streak seen on scratching the skin in acute meningitis.
Migratory thrombophlebitis seen in setting of malignancy, e.g. pancreas or lung.
In scurvy, a lucent line below a dense zone of provisional calification at the margins of the growth plate (i.e. Fränkel's sign).
Induction of vertigo by loud noises, i.e. sound-induced vestibular activation. Associated with and previously considered pathognomonic of syphilis.
Rare variant of familial adenomatous polyposis, with combination of adenomatous colonic polyposis and tumors of the central nervous system, mostly glioblastoma multiforme.
Females with XO, short, low-set ears, shield chest, congenital heart defect (usually coarctation), café-au-lait spots, freckles, webbed neck, lymphedema.
Cytologic technique most often used in the diagnosis of herpesvirus infections (simplex or varicella-zoster); multinucleated giant cells suggest the presence of herpes; named after Arnault Tzanck.
Eponyms 
Ingrown toenail
Nematocysts
Cryptitis
Vascular ring
Vesiculobullous rashes
Black hairy tongue
Abscess