For 19 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 firstname.lastname@example.org 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).
19 October 2014
Today the entire blog is genes/related syndromes. Given that the genome is the future of medicine, a medical dictionary with the modern in its title can’t give the 60+ thousand genes identified by the Human Genome Project short shrift.
NEUROLOGY A genetic locus on chromosome 15q24 which is thought to contain a gene that causes epilepsy—nocturnal frontal lobe—type 2 (OMIM:603204).
HAEMATOLOGY Endoglin1, ORW, END, HHT1, ORW1, Osler-Rendu-Weber syndrome 1 A gene (OMIM:131195) on chromosome 9q34.11 that encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium, serving as a component of the TGF beta receptor complex, where it is involved in regulating angiogenesis. It may play a critical role in binding of endothelial cells to integrins and/or other RGD receptors. It binds to the beta1 and beta3 peptides with high affinity, acting as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade. It is required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGF-beta1 signalling through SMAD3.
Molecular pathology Defects of ENG cause hereditary haemorrhagic telangiectasia 1 (aka Osler-Rendu-Weber syndrome, OMIM:187300).
EMBRYOLOGY Endothelial PAS domain protein 1, PASD2, HIF2A, MOP2, HIF-1-alpha-like factor, basic helix-loop-helix-PAS protein MOP2, PAS domain-containing protein 2, class E basic helix-loop-helix protein 73, ECYT4, hypoxia-inducible factor 2-alpha, endothelial PAS domain-containing protein 1, HIF-1alpha-like factor, HIF-2-alpha, hypoxia-inducible factor 2 alpha A gene (OMIM:603349) on chromosome 2p21-p16 that encodes a transcription factor involved in the induction of oxygen-regulated genes. EPAS1 is induced as oxygen levels fall, binding to to the core DNA sequence 5′-[AG]CGTG-3′ within the hypoxia response element—HRE of target gene promoters. It regulates VEGF–vascular endothelial growth factor expression and may be involved in the development of blood vessels and the tubular system of lung. It may also play a role in forming the endothelium that gives rise to the blood brain barrier.
Molecular pathology Defects of EPAS1 cause erythrocytosis—familial—4 (OMIM:611783).
CELL BIOLOGY Enhancer of polycomb homolog 2 (Drosophila), EPC-like A gene (OMIM:611000) on chromosome 2q23 that encodes a protein of unknown function which may play a role in transcription or in DNA repair.
HAEMATOLOGY An autosomal dominant disorder (OMIM:611783) characterised by increased red cell mass, elevated serum haemoglobin and haematocrit, and normal platelet and leukocyte counts.
Molecular pathology Defects of EPAS1, which encodes a transcription factor involved in inducing oxygen-regulated genes, cause erythrocytosis—familial—4.
18 October 2014
PATHOLOGY, PULMONOLOGY A severe idiopathic inflammatory condition that diffusely involves the bronchioles. It is most common in eastern Asian males and, if untreated, leads to bronchiectasis. Macrolide antibiotics–e.g., erythromycin, slow but don’t halt or reverse disease progression.
Clinical findings Chronic sinusitis, wheezing, crackles, dyspnoea, purulent sputum, hypoxia, hypercapnia, pulmonary hypertension, cor pulmonale and eventually respiratory failure.
Pathology Nodules of foamy macrophages, heterogeneous population of CD4+ and CD8+ T-cells in the lymphocytic infiltrate, virtual absence of B lymphocytes in foci of inflammation, lumina filled with neutrophils, distortion of alveoli and formation of microabscesses
Prognosis Without erythromycin, 10-year survival is 33%; with it, 90%
Reference Diagnostic Pathology 2014, 9:12
ENDOCRINOLOGY Endosulfine—alpha, ARPP-19e A gene (OMIM:603061) on chromosome 1q21.3 that encodes a protein belonging to a highly conserved cAMP-regulated phosphoprotein (ARPP) family, which is an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1, the regulatory subunit of the ATP-sensitive potassium (KATP) channel. ABCC8 is located on the plasma membrane of pancreatic beta cells and plays a key role in controlling insulin release from pancreatic beta cells. ENSA is thought to be an endogenous regulator of KATP channels; it modulates insulin secretion by interacting with the KATP channel. ENSA is a candidate gene for type 2 diabetes.
CELL BIOLOGY Enolase 1—(alpha), alpha-enolase, MPB1, ENO1L1, MYC promoter-binding protein 1, non-neural enolase, tau-crystallin, phosphopyruvate hydratase, plasminogen-binding protein, MBPB1, NNE, EC 18.104.22.168, enolase 1, PPH, EC 4.2.1, alpha enolase like 1 A gene (OMIM:172430) on chromosome 1p36.2 that encodes alpha-enolase, one of three enolase isoenzymes found in mammals. As a monomer, alpha enolase is a structural lens protein (tau-crystallin). As a homodimer composed of 2 alpha subunits, like the other two enolase isoenzymes (composed respectively of 2 beta or 2 gamma subunits), it functions as a glycolytic enzyme. In addition of glycolysis, it plays a part in various cellular processes such as growth control, hypoxia tolerance and allergic responses.
inappropriate sinus tachycardia
CARDIOLOGY A cardiopathy in which the sinus heart rate is inexplicably faster than expected and accompanied by tachycardic symptoms. The heart rate at rest, even in a supine position, can exceed 100 beats/min, a rate that is rapidly and substantially increased with minimal activity, thus restricting these patients’ physical activity.
DiffDx Appropriate sinus tachycardia, postural orthostatic tachycardia syndrome (overlap may occur).
Prognosis Long-term outcome seems benign
Management Treatment may be unnecessary, or require no more than exercise and training. For patients with severe symptoms, therapies include pharmaceuticals–e.g., β-adrenergic blockers, a first-line therapy, which may prove ineffective, as may other medications. Rarely, catheter- or surgically- based right atrial or sinus node modification may be effective, at the risk of limited efficacy and potential complications.
Reference J Am Coll Cardiol. 2013;61(8):793-801.
Image and caption taken directly from J Am Coll Cardiol. 2013;61(8):793-801.
Heart Rate Control via the Autonomic Nervous System
Predominant (not all-inclusive) regulators of the sinus rate are depicted. Sinus node activation is under the control of various cellular currents, including IKAch, If, INaCa, IKr, and the L-type calcium (Ca2+) channel, among others, regulated in part via G protein modulation (G). Additionally, the so-called calcium clock, involving ryanodine receptor (RyR) Ca2+ release from the sarcoplasmic reticulum (SR), has an important role in sinus rate determination. Further regulation and modulation of rate (particularly at rest) involves parasympathetic activation via acetylcholine (Ach) and nitric oxide (NO), in part via nitric oxide synthase (NOS). Parasympathetic nerve activation affects the muscarinic (M2) receptor via Ach and works by affecting intracellular cyclic GMP (cGMP) and cyclic AMP (cAMP) in part. Sympathetic activation stimulates β-1 receptors via norepinephrine to increase cAMP. Both limbs of the autonomic nervous system are regulated and interact at multiple levels, including the central nervous system and peripheral nerve terminals. There are multiple checks and balances throughout the entire regulatory system and, despite the simplifications shown here, they are extraordinarily complex. Presently, it is not clear what part(s) of the system is the predominant driver of increased rates in inappropriate sinus tachycardia. IKr = delayed rectifier K+ current; If = funny current; INaCa = sodium/calcium exchange current; NE = norepinephrine; + = stimulates; − = inhibits.Calcium clocks and cellular membrane voltage, driven by β-adrenergic sympathetic nervous system activation or extrinsic catecholamines, can be blocked, in part, by If blockade.
Although several drugs and ions can block the If current, their effects are nonspecific. Other If blockers have been developed, but only ivabradine is available commercially. Subsidiary pacemakers, residing in the superior portion of the sinus node, are activated by sympathetic stimulation such that a depolarizing shift in the If activation curve, a potentiation of ICa-L, a potentiation of IK, a hyperpolarized shift in IK activation curve, an acceleration of the deactivation of IK, and a potentiation of IST occur.Although phasic vagal (parasympathetic) activation supersedes sympathetic activation (called accentuated antagonism), tonic sympathetic activation overshadows intermittent vagal activation. Catecholamine excess or sympathetic activation, with or without vagal inhibition, could cause IST.
Trichuris dysentery syndrome
Clinical findings Heavy colonic worm infestation results in mucoid diarrhoea, rectal bleeding, and rectal prolapse. The severe iron deficiency anaemia results in hypoxia and finger clubbing. Affected children demonstrate growth stunting, as well as lower intelligence quotients, school achievement and cognitive function.
Diagnosis Nematodes are seen by colonoscopy
Lab Stool microscopy
Management Long-term anti-helminthic treatment with mebendazole, albendazole.
References Trop Biomed. 2012 Dec;29(4):626-31
Ann Trop Med Public Health 2011;4:148-9
17 October 2014
PUBLIC HEALTH Clipboard Man A popular term for a worker who was photographed—without a hazmat space suit or any obvious protective gear—helping Ebola virus infected Dallas nurse Amber Vinson aboard a flight in mid-October 2014. The explanation given* was that Clipboard Guy was the protocol manager whose role was to act as the eyes and ears of those wearing the suits given the sensory compromise caused by the suits.
*For what appears to the average man on the street as a clear breach of protocol required for transporting those infected with highly pathogenic organisms. Not everyone is buying the story.
CELL BIOLOGY Eomesodermin, T-Bbox Brain2, TBR2, eomesodermin homolog, T-box brain protein 2, T-brain-2, eomesodermin (Xenopus laevis) homolog A gene (OMIM:604615) on chromosome 3p24.1 that encodes a member of the T-box brain protein 1 sub-family of T-box genes which share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the CNS in vertebrates. The protein may also be required for the differentiation of effector CD8+ T cells which are involved in defense against viral infections.
Molecular pathology A translocation 3’ of the EOMES gene leading to loss of EOMES expression was identified in a large consanguineous family. This homozygous silencing produces microcephaly associated with corpus callosum agenesis, bilateral polymicrogyria, ventricular dilatation and a small cerebellum.
IMMUNOLOGY A genetic locus on chromosome 5q31-q33 which is thought to contain a gene that causes or increases susceptibility to familial eosinophilia (OMIM:131400).
test of everyday attention
PSYCHOMETRY A testing instrument designed to assess attentional functioning in adults* age 18 to 80, by measuring:
• Selective attention
• Sustained attention
• Mental shifting
*There are also versions of the test for children (TEA-Ch) and for occupations (TEA-Occ).
traditional Hawaiian diet
Foods eaten Taro, yams, arrowroot, breadfruit, chickens, pigs, fish, shrimp, seaweed, shellfish, seasoned wtih kukui nut, ho‘io fern and salt; most foods were eaten fresh.
Energy breakdown 12% protein, 18% fat and 70% carbohydrates. In contrast, the typical American diet has 15% protein, 40% fat and 45% carbohydrates.
A return to the traditional Hawaiian diet has been recommended to address the epidemics of obesity, type 2 diabetes, heart disease and early death that has affected Hawaiians.
16 October 2014
eosinophil peroxidase deficiency
IMMUNOLOGY Eosinophil peroxidase deficiency—partial, peroxidase and phospholipid deficiency in eosinophils, Presentey anomaly A rare, clinically asymptomatic condition (OMIM:261500) characterised by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils.
Molecular pathology Defects of EPX. which encodes eosinophil peroxidase, a precursor protein that acts as an oxidant, cause eosinophil peroxidase deficiency.
IMMUNOLOGY Endoplasmic reticulum aminopeptidase 1, adipocyte-derived leucine aminopeptidase, ALAP, puromycin-insensitive leucyl-specific aminopeptidase, PILSAP, ARTS1, KIAA0525, aminopeptidase regulator of TNFR1 shedding, ERAAP, aminopeptidase PILS, ERAAP1, type 1 tumour necrosis factor receptor shedding aminopeptidase regulator, endoplasmic reticulum aminopeptidase associated with antigen processing, EC 3.4.11.-, APPILS, EC 3.4.11, EC 22.214.171.124 A gene (OMIM:606832) on chromosome 5q15 that encodes an aminopeptidase involved in trimming HLA class I-binding precursors for presentation on MHC class I molecules. It acts alone as a monomer or as a heterodimer with ERAP2. It may also be involved in blood pressure regulation by inactivating angiotensin II.
IMMUNOLOGY A self-explanatory term for the snipping off of amino acids from a peptides, which is an essential step required for generating most HLA class I-binding peptides, as a way of customising longer precursor peptides so they’re the correct length required for presentation on MHC class I molecules. Antigenic peptides are trimmed by endoplasmic reticulum aminopeptidases (ERAP1/2), which are most efficient as a heterodimer of ERAP1 and ERAP2, and play a central role in the correct functioning and regulation of the adaptive immune response.
Reference Mol Immunol. 2013 Oct;55(3-4):212-9.
This acronym appeared on a list of British medical acronyms and abbreviations and is a feeble attempt at humour, as homeopathy is widely regarded as ineffective. Its use is seemingly justified to (real) doctors when all other therapeutic approaches have been tried and proven ineffective
CARDIOLOGY Trial to Evaluate the Management of Paroxysmal Supraventricular Tachycardia During an Electrophysiology Study With Tecadenoson A clinical trial to determine the safest and most effective 2-dose bolus of tecadenoson*, a potent selective A1-adenosine receptor agonist with a dose-dependent negative dromotropic effect on the AV node.
*Tecadenoson terminates induced paroxysmal supraventricular tachycardia (PSVT) without the clinically significant side effects caused by stimulation of other adenosine receptors.
Conclusion The optimal tecadenoson regimen, 300 μg/600 μg, effectively and rapidly converted 90% of PSVT patients to normal sinus rhythm with no significant adverse effects.
Reference Circulation 2005; 111: 3202-3208