For 22-23 October 2014 blog, see below
By way of explanation
This is the first completely new medical dictionary to come to the market since the Tabers Medical Dictionary was published in the 1940s.
After trying to produce this work with the older text-based model, it became increasingly obvious that a lexicon that serves the needs of physicians and health care workers in the 21st century must be designed and developed from the ground up as a database. This explains the poor implementation (and virtual unusability) of the electronic versions of the standard medical dictionaries (the Dorland’s, Stedman’s and Taber’s medical dictionaries).
For the record, this was the main complaint of my own Concise Dictionary of Modern Medicine, which was an iOS App from 2010 until I had it removed in 2014. To access information from text, Mr Computer has the daunting task of sifting through ALL the information in the text, a problem that doesn’t occur with relational database searches. The Concise Dictionary of Medicine and a handful of other text-based eBooks I’ve written over the last few decades are still available on the various eBook stores (iTunes, Kindle, Nook, etc) for those who like the text format and want them on their iPads, tablets, etc. However, database apps are the future and as I go online with the database version of each, I will retire the eBook versions.
I began collecting new medical terms as a hobby in 1984, premised on my belief that the standard medical dictionaries were losing touch with the spoken and working language of medicine.
You’ll find my musings on medical lexicography on the page titled:
New Medical Dictionary
I went live with www.modernmedicaldictionary.com in May, 2012 and blog about 5 terms/day, which derive from a growing database that now has 182,316 entries*
*The Dorland’s Medical Dictionary has less than 124,000 entries.
I’ll be making portions of the database available as iOS/Android apps…the first product, Medical Abbreviations, will be out soon…stay tuned.
Most of the blogged terms fall into one of three general categories:
• Popular terms–e.g., champagne bottle leg, Michael Jackson syndrome(s), Mickey Mouse sign(s), soap bubble pattern, Sutton’s law, etc. I’ve tried to include something for everyone, in particular as relates to the cultural savvy that doctors are expected to have vis-à-vis music, literature, the arts and the world in general. Even if you’re not in health care, the material is “edutaining”, occasionally droll…
• New biomedical terms–e.g., from genomics and molecular biology, evidence-based medicine, informatics, managed care, sport medicine, etc
• Old terms due for burial with comments on usage
I encourage the reader to look over the 4500+ terms now included under LIST OF TERMS separated by letters…you’ll find gems aplenty.
I plan to offer this growing pool of blogged terms as an annual subscription, updated monthly.
Below are the E blogged entries
ear candling, early repolarisation syndrome, ease of association, EASTER, eat for two, Ebola virus, eccentric, ecocide, ECT2, ectoplasm, EDA2R, educationalist, EEF1A1, EFCAB4B, efferocytosis, EGFLAM, egg on a string sign, eggshell calcification, eggshell skull rule, egophony, egosurfing, EGR3, Ehlers-Danlos syndrome type 6, Ehlers-Danlos syndrome—musculocontractural type, EIF2S1, EIF2S2, EIF4E, eight-hour hold, Einstein sign, Einstein syndrome, EJM3, elastography, ELAV4, ELAVL1, elbow fat pad sign, elective, electrical storm, electroautophilia, electromagnetic hypersensitivity, electronic health record, electronic siloing, elephant foot appearance, elevator surfing, elite athlete, Elizabethkingia meningoseptica, ELK1, ELL, ELMO1, Elvis culture, emancipated minor, embedded behavioural health, embodied cognition, embouchure dystonia, Emery-Dreifuss muscular dystrophy type 4, emmeniopathy, emopamil binding protein, emotional intelligence, emotional quotient inventory, Empedobacter brevis, empty calories, empty nest syndrome, enamel renal syndrome, enantiopure drug, encrypted English, endocannabinoid signaling pathway, endocrine disruptor, endogamy, endogenous pyrogen, endoheretic, endoleak, endosulfan, endurance training, English disease, enhanced water, enrichment, enrichment design, entheogen, ENUR1, ENUR2, environmental cancer, ENY2, EP300, EPC1, EPCAT, ependymal rosette, EPHB1 , epigenome, epigenomics, epilarynx, epilepsy—childhood absence—susceptibility to—type 4, epilepsy—juvenile myoclonic—susceptibility to—type 5, epileptic encephalopathy—early infantile type 2, epileptic encephalopathy—early infantile—type 8, epileptic encephalopathy—early infantile—type 10, episodic consultation, epistasis, epistaxis, epistemology, epitasis, epitaxis, epoch, eponym, Epworth Sleepiness Scale, equipoise, equiprobable, equivalence margin, equivalence trial, equivocal death, Erasmus Placement, ERCC1, ERCC6, erection ring, Erlenmeyer flask appearance, ERLIN2, erlotinib, erotic asphyxiation, erotica, error catastrophe theory, Erysichthon syndrome, erythrocytosis—familial type 1, erythroid sarcoma, ESCRT complex, esprit de corps, ETAP trial, eteplirsen, ETFDH, ether-à-go-go related gene potassium channel, ethical imperialism, ethylmalonic encephalopathy, ETM2, eugenics movement, Euroblood, European Computer Driving Licence, European Laryngological Society classification, EVEREST, evergreening, EVR3, Ewing sarcoma protein, EWSR1-CREB1, executive monkey, exenatide, exercise-induced hyperinsulinaemic hypoglycaemia, exigency theory, exit strategy, EXOC1, EXOC2, EXOC8, exogamy, exogenous obesity, exome, exon mapping, EXOSC1, EXOSC3, exotic pet, expanded rubella syndrome, expendable child syndrome, explanatory trial, exploding crypt cell, exploding head syndrome, exposure incident, exposure science, EXT1, EXT2, extreme ironing, extreme skiing, extremely drug-resistant tuberculosis, extremophile, exudation cell, EYA1, eye mouth gap, eye of the tiger sign, eyebrow flash, eyebrow threading, eyeliner sign, EYS, EZH2
Format of entries Whilst I believe the format is self-explanatory, I am biased and may be assuming too much. The following few lines are meant to explain the elements found in most of the terms blogged on this website.
• bailout Term or entry name
• SURGERY Area of interest
• Bailout procedure, damage control surgery Synonyms
• The immediate closure… Definition of term
• http://www.omim.org/entry Reference(s)
Note: A lexicon written in the 21st Century cannot, given of the diverse sources from which its material derives, escape some tongue-in-cheek and even outright comedy. I tried to confine the jocularity to the choice of illustrations so as to not diminish the value of the work. For most of the terms, the illustration is on point. For others, I took liberties, such as those taken for genes–e.g., HOMER2, which got a mugshot of Homer Simpson and HIP2, which got an illustration from hipster artist Josh Agle.
Small minds, as they say, easily amused…
If you have a new term that you feel has gotten short shrift in a medical dictionary, shoot me an email at email@example.com and I’ll add it if I agree. And feel free to back-link to this website.
The reader will note that the spelling follows that extant on the other side of the pond. Unless they change the name of the language we speak to American, orthographic principles should follow received pronunciation (Queen’s English).
22-23 October 2014
This is a first (but unlikely to be the last) time that I have so much material that I simply can’t stuff it all in one day’s blog. It’s pretty hard-core, given that defects in one gene, GDF5, causes 10 different clinical syndromes (it is somewhat out of alphabetical order)
GENETICS Growth differentiation factor 5, BMP14, CDMP1, LAP4, cartilage-derived morphogenetic protein-1, growth/differentiation factor 5, CDMP-1, radotermin, BDA1C, OS5, SYM1B, cartilage-derived morphogenetic protein 1, SYNS2 A gene (OMIM:601146) on chromosome 20q11.2 that encodes a member of the bone morphogenetic protein–BMP family* which is thought to be involved in bone and cartilage formation. Chondrogenic signalling is mediated by the high-affinity receptor BMPR1B.
*Which regulate cell growth and differentiation in both embryonic and adult bone and cartilage.
Molecular pathology Defects of GDF5 cause:
• Acromesomelic dysplasia—Hunter-Thompson type (OMIM:201250)
• Angel-shaped phalango-epiphyseal dysplasia (OMIM:105835)
The radiologic findings, abnormal dentition, hip dysplasia, and delayed bone age, suggest that brachydactyly C and ASPED are part of the same clinical spectrum.
• Brachydactyly A2 (OMIM:112600)
Note: Brachydactyly A2 is also caused by defects of BMP2 and BMPR1B
• Brachydactyly A1—C (OMIM:615072)
• Brachydactyly C (OMIM:113100)
• Chondrodysplasia—Grebe type (OMIM:200700)
• Du Pan syndrome, aka fibular hypoplasia and complex brachydactyly (OMIM:228900)
• Multiple synostoses syndrome 2 (OMIM:610017)
• Osteoarthritis 5 (OMIM:612400)
Defects of GDF5 don’t cause the above condition, but rather increase susceptibility thereto
• Symphalangism—proximal—1B (OMIM:615298)
acromesomelic dysplasia—Hunter-Thompson type
GENETICS Acromesomelic chondrodysplasia—Hunter-Thompson type An autosomal recessive form (OMIM:201250) of dwarfism characterised by normal axial skeleton, limb malformations with the middle and distal segments most affected and lower limbs more than upper limbs and missing or fused skeletal elements in the hands and feet.
angel-shaped phalango-epiphyseal dysplasia
GENETICS An autosomal dominant skeletal malformation syndrome (OMIM:105835) characterised by a typical angel-shaped phalanx, brachydactyly, specific radiologic findings, abnormal dentition, hip dysplasia, and delayed bone age, all of which suggest that brachydactyly C and ASPED are part of the same clinical spectrum.
image from Echo train, Resident, Ohio State University Medical Center, Ohio, USA
GENETICS A form (OMIM:615072) of brachydactyly*, characterised by rudimentary middle phalanges of all digits, or fused with terminal phalanges. The proximal phalanges of the thumbs and big toes are short.
*Brachydactyly defines a group of inherited malformations characterised by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals.
GENETICS Brachydactyly—Mohr-Wriedt type, brachymesophalangy II, Mohr-Wriedt type brachydactyly A form of brachydactyly (OMIM:112600) which is characterised by shortening of the middle phalanges of the index finger and second toe (the other digits are relatively normal). The rhomboid or triangular shape of the affected middle phalanx usually results in radial deviation of the end of the second finger.
Molecular pathology Defects of:
• BMP2, which encodes a protein belonging to the transforming growth factor-beta superfamily that induces bone and cartilage formation.
• BMPR1B, which encodes a member of the type I bone morphogenetic protein–BMP receptor family of transmembrane serine/threonine kinases that bind BMPs and play a central role in endochondral bone formation and embryogenesis.
• GDF5, which encodes a protein thought to be involved in bone and cartilage formation, cause brachydactyly A2.
Of the conditions listed in the 22-23 October blog, only brachydactyly A2 is known to be caused by more than one gene. All of the others in this list are caused by defects in GDF5 or defects in GDF5 increase susceptibility for a particular condition–e.g., osteoarthritis type 5
GENETICS Brachydactyly—Haws type A form (OMIM:113100) of brachydactyly, characterised by deformity of the middle and proximal phalanges of the 2nd and 3rd fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the othersReference http://www.omim.org/entry/113100
GENETICS Achondrogenesis—Brazilian, achondrogenesis—type II—formerly, acromesomelic dysplasia—Grebe type, Grebe chondrodysplasia, Grebe dysplasia An autosomal recessive disorder (OMIM:200700) characterised by severe defects of joints and limbs with limb shortening progressing in a proximal-distal gradient. The fingers and toes lack articulation and appear as skin appendages. The axial and craniofacial skeleton are not affected.
Du Pan syndrome
GENETICS Du Pan chondrodysplasia, fibular hypoplasia and complex brachydactyly A rare autosomal recessive condition (OMIM:228900) characterised by absence of the fibulae and severe acromesomelic limb shortening with small, non-functional toes.
Du Pan syndrome resembles a milder form of acromesomelic—Hunter-Thompson type and acromesomelic chondrodysplasia—Grebe type.
multiple synostoses syndrome 2
GENETICS A bone disease (OMIM:610017) characterised by multiple progressive fusion involving proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints, variably accompanied by progressive conductive deafness and facial dysmorphism.
GENETICS Osteoarthritis of hip A degenerative joint disease (OMIM:612400) characterised by degradation of hyaline articular cartilage, remodelling of subchondral bone and sclerosis.
Clinical findings Pain and joint stiffness often leading to significant disability and the need for joint replacement.
Molecular pathology Defects of GDF5, which encodes a protein thought to be involved in bone and cartilage formation, increase susceptibility to osteoarthritis 5.
GENETICS A disease (OMIM:615298) characterised by hereditary absence of the proximal, less often distal, interphalangeal joints. Metacarpophalangeal joints are rarely affected, but carpal bone malformation and fusion are common. In the legs, tarsal bone coalition is common. The typical conductive hearing loss is due to fusion of the stapes to the petrous part of the temporal bone.
21 October 2014
Charcot-Marie-Tooth disease type 4A
NEUROLOGY Charcot-Marie-Tooth disease—demyelinating—autosomal recessive, Charcot-Marie-Tooth neuropathy—type 4A A severe autosomal recessive demyelinating form (OMIM:214400) of Charcot-Marie-Tooth disease*, which is characterised by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence
*A disorder of the peripheral nervous system characterised by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
• Primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and
• Primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterised by severely reduced nerve conduction velocities (< 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating CMT disease are designated CMT4.
Molecular pathology Defects of GDAP1, which encodes a ganglioside-induced differentiation-associated protein that may play a role in signal transduction during neuronal development, cause Charcot-Marie-Tooth disease type 4A.
PSYCHOLOGY Fame culture, fame junkie-ism A term of art referring to the overwhelming interest displayed by individuals and Western society in general for persons whose fame is based more on paparazzi cameras and vapid popular media than from contributions to culture, fine arts and science.
The fame culture is personified by the Kardashian “empire”, the sum of whose IQs is arguably less than their combined chest diameters in inches. The effect of the fame culture on mental health and self-image of young women cannot be underestimated and translates at very least into eating disorders, bullying of overweight teens, low esteem, etc.
NEUROLOGY GDP dissociation inhibitor 1, GDIL, Rab GDP-dissociation inhibitor, MRX41, X-linked 41, MRX48, X-linked 48, guanosine diphosphate dissociation inhibitor 1, protein XAP-4, XAP-4, Rab GDI alpha, mental retardation—X-linked 48, oligophrenin-2, OPHN2, Rab GDP dissociation inhibitor alpha, RABGDIA, oligophrenin-2, XAP4 A gene (OMIM:300104) on chromosome Xq28 that encodes a GDP dissociation inhibitor, one of a family of proteins that regulate the GDP-GTP exchange reaction of members of the rab family*. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. *
Small GTP-binding proteins of the ras superfamily that are involved in vesicular trafficking of molecules between cellular organelles.
Molecular pathology Defects of GDI1 cause mental retardation—X-linked 41 (OMIM:300849).
pain management program
Pathogen Modeling Program
patient management problem
patient medication profile
Patient of the Month Program
peroxisomal membrane protein
plasma membrane potential
plexus muscularis profundus
previous menstrual period
pseudosarcomatous myofibroblastic proliferation
ANATOMY noun The cord-like structure that connects the pituitary gland to the hypothalamus
PUBLIC SAFETY verb To actively pursue, harass, or threaten a person who is an unwilling recipient of the stalker’s advances