16 to 20 October 2014

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 jcsegenmd@yahoo.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).  

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).

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENFL2


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).  

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENG



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). 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPAS1



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. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=EPC2 



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. 

References http://www.uniprot.org/uniprot/Q99814


18 October 2014

diffuse panbronchiolitis

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.

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENSA



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, 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.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ENO1


inappropriate sinus tachycardia

inappropriate_sinus_tachycardiaCARDIOLOGY 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.

Mechanism Unknown

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 

trichuris_dysenteryGASTROENTEROLOGY, TROPICAL MEDICINE A condition caused by Trichuris trichiura, which causes one of the most common helminthic infections in the world.

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

Clipboard Guy 

clipboard_guyPUBLIC 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.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=EOMES



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).

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=EOS

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).

Ref http://en.wikipedia.org/wiki/Test_of_everyday_attention

traditional Hawaiian diet

traditional_hawaiian_foodNUTRITION A diet which some regard as one of the world’s healthiest diets. It was simple, with high starch, high fibre, low saturated fat, low sodium and low cholesterol

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.

Reference http://www.cds.hawaii.edu/kahana/downloads/curriculum/SectionII/Unit3/3.D.MeaaiaaOlaHealth/3.D.1.FoodinOldHawaii.pdf

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.

Reference http://www.uniprot.org/uniprot/P11678



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 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.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ERAP1


peptide trimming 

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.

doi: 10.1016/j.molimm.2013.03.002


teethMEDSPEAK-UK Abbreviation for, tried everything else, try homeopathy 

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 

Reference www.sochealth.co.uk/glossary/glossarye.htm 


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

doi: 10.1161/CIRCULATIONAHA.104.510982


11 to 15 October 2014

15 October 2014

bifid nose—with or without anorectal and renal anomalies  A disease (OMIM:608980) characterised by the presence of a bifid nose*, usually associated with renal agenesis and anorectal malformations.

*A congenital deformity caused by a failure of the paired nasal processes to fuse to a single midline structure during early gestation.

Molecular pathology Defects of FREM1, which encodes a basement membrane protein that plays a role in craniofacial and renal development and epithelial differentiation, cause bifid nose—with or without anorectal and renal anomalies. 

References http://www.uniprot.org/uniprot/Q5H8C1


constitutional remedy

AYURVEDIC MEDICINE Any of a number of therapeutic manoeuvres, including diet, mild herbs, mineral preparations, and lifestyle adjustments, intended to balance life forces, and return the body to its normal state of harmony

HOMEOPATHY A therapeutic agent in the homeopathic formulary that is chosen based on a person’s individual constitutional type, which takes into account the person’s symptoms, personality, genetic, and familial characteristics; in some cases, acute and chronic homeopathic remedies may also be constitutional remedies.

Note: The appearance of homeopathic agents in this work is not meant to lend support to claims of efficacy. Current conventional (mainstream) medical thought is that homeopathy remains unproven.  

Nano Silver 

QUACKERY A proprietary liquid containing a suspension of submicroscopic metallic silver particles in a colloidal base, which was marketed for a short period of time by Natural Solutions Foundation, a for-profit enterprise operated by a Dr Rima Laibow, an American psychiatrist as a cure for Ebola virus infection…until the FDA threatened criminal prosecution and sent her a stern cease-and-desist letter for making false claims that her product could cure Ebola virus infection. There is not one shred of evidence supporting this quack claim. 

References http://www.quackwatch.org/01QuackeryRelatedTopics/PhonyAds/silverad.html


nystagmus 1—congenital—X-linked

NEUROLOGY Nystagmus—congenital motor 1, nystagmus—infantile idiopathic—formerly, nystagmus—infantile periodic alternating—X-linked—included, nystagmus 1—infantile—X-linked, IIN—formerly, XIPAN–included, XLPAN–included A condition (OMIM:310700) defined by the presence of conjugated, spontaneous and involuntary ocular oscillations–nystagmus, which appear at birth or during the first three months of life. Other features include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

Molecular pathology Defects of FRMD7, which cause nystagmus 1—congenital—X-linked.

Reference http://www.uniprot.org/uniprot/Q6ZUT3


scorpion venom 

scorpionTOXICOLOGY A self-explanatory term for a venom produced by scorpions* which contains multiple toxins and other compounds.

Toxins and chemicals in scorpion venom-SV Neurotoxin, cardiotoxin, nephrotoxin, haemolytic toxin, phosphodiesterases, phospholipases, hyaluronidases, glycosaminoglycans, histamine, serotonin**, tryptophan, and cytokine releasers.

Pathophysiology SV has neuromuscular and autonomic effects, and causes local tissue damage. Its primary targets are voltage-dependent ion channels, leading to prolonged neural activity, cardiopulmonary and end-organ effects secondary to autonomic excitation. Somatic and cranial nerve hyperactivity result from neuromuscular overstimulation.


**Which may contribute to the pain of with scorpion envenomation.

Neurotoxins are the most potent toxins: they are heat-stable, have low molecular weight, and impair activity in nerves, muscles, and the heart by altering ion channel permeability. They are divided into two broad groups:

• Long-chain polypeptide neurotoxins Lock voltage-dependent sodium channels in the open position, leading to continuous, prolonged, repetitive firing of the somatic, sympathetic, and parasympathetic neurons, symptoms of  autonomic and neuromuscular overexcitation and prevention of normal nerve impulse transmissions, in addition to flooding the region with neurotransmitters–e.g., epinephrine, norepinephrine, acetylcholine, glutamate, and aspartate.

• Short polypeptide neurotoxins Block potassium channels.

The binding of neurotoxins to the host is reversible, but different neurotoxins have different affinities.

The stability of the neurotoxin is due to the 4 disulfide bridges that fold the neurotoxin into a very compact 3-dimensional structure, thus making it resistant to pH and temperature changes. However, reagents that can break the disulfide bridges can inactivate this toxin by causing it to unfold. Also, the antigenicity of this toxin is dependent on the length and number of exposed regions that are sticking out of the 3-dimensional structure.

Reference emedicine.medscape.com/article/168230-overview

14 October 2014


ALTERNATIVE HEALTH A Scientology® term for a person who has successfully erased the painful effects of traumatic memories–the so-called engrams 

EMERGENCY MEDICINE An imperative* that signals participants in a “code blue” resuscitation that the operator is about to turn on the juice in the defibrillation paddles

*Said both forcefully and loudly 

Fraser syndrome

GENETICS Cryptophthalmos-syndactyly syndrome, cryptophthalmos with other malformations A multisystem malformation complex OMIM:219000 usually characterised by cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects.

Molecular pathology Defects of

FRAS1 (OMIM:607830), which encodes a matrix protein involved in regulating epidermal-basement membrane adhesion and organogenesis during development, 

FREM2 (OMIM:608945), which encodes a basement membrane protein that plays a role in craniofacial and renal development and epithelial differentiation,

GRIP1 (OMIM:604597), which encodes a protein thought to act as a localised scaffold for assembling a multiprotein signaling complex and mediating trafficking of its binding partners at specific subcellular sites in neurons, cause Fraser syndrome.

References http://www.uniprot.org/uniprot/Q86XX4



CELL BIOLOGY FRAS1 related extracellular matrix 1, C9orf154, chromosome 9 open reading frame 154, C9orf143, MOTA, C9orf145, TRIGNO2, TILRR,  extracellular matrix protein QBRICK, BNAR,  FRAS1-related extracellular matrix protein 1, protein QBRICK A gene on chromosome 9p22.3 that encodes a basement membrane protein which plays a role in craniofacial and renal development and epithelial differentiation. It is required for epidermal adhesion during embryogenesis.

Molecular pathology Defects of FREM1 cause bifid nose—with or without anorectal and renal anomalies (OMIM:608980).

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=FREM1



CELL BIOLOGY Fyn-related kinase, protein-tyrosine kinase 5, PTK5, EC, RAK2, GTK, PTK5 protein tyrosine kinase 5, tyrosine-protein kinase FRK, nuclear tyrosine protein kinase RAK, EC 2.7.10 A gene (OMIM:606573) on chromosome 6q21-q22.3 that encodes a non-receptor tyrosine-protein kinase which downregulates cell proliferation, acting during G1 and S phase of the cell cycle. It increases PTEN protein stability through phosphorylation of PTEN on ‘Tyr-336′, which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. FRK may act as a tumour suppressor.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=FRK



DERMATOLOGY A highly nonspecific term for any macular lesion of any colour, location or behaviour

IMAGING A nonspecific term* for any small, discrete or well circumscribed change on a film, mammogram, CT, MRI or other imaging modality that is unexpected and requires investigation to exclude a treatable lesion, including an early malignancy. 

*In the tradition of Humpty-Dumpty etymology–i.e., it means what the user chooses it to mean

spotPATHOLOGY Immediate diagnosis, spot diagnosis A term of art used in UK histopathology circles, for unknown (“black box”) cases which have such a classic appearance by light microscopy, that they can be diagnosed instantly based on pattern recognition.

Shown is a classic case of molluscum contagiosum 

VOX POPULI i The Christian name of a domesticated homeothermic Canis familiaris and central protagonist in a series of narratives designed to incrementally raise the level of comprehension of chronologically immature individuals. 

13 October 2014


DERMATOLOGY Cutaneous malignant melanoma/dysplastic naevus, DNS, MLM, CMM1, FAMMM A genetic locus on chromosome 1p36 which is thought to contain a gene that increases susceptibility to melanoma—cutaneous 1 (OMIM:155600). 

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMM


IMMUNOLOGY Formyl peptide receptor 1, FMLP, FPR, FMet-Leu-Phe receptor, FMLP Receptor, N-formyl peptide receptor, N-formylpeptide chemoattractant receptor A gene (OMIM:136537) on chromosome 19q13.41 that encodes formyl peptide receptor 1, a G protein-coupled receptor, which activates a phosphatidylinositol-calcium second messenger system, mediating the response of phagocytic cells to host invasion by microorganisms, playing a key role in host defence and inflammation. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=FPR1


question mark ear

question_mark_earENT, PLASTIC SURGERY Constricted ear, Cosman ear A descriptive term for a malformation of the external ear defined by the presence of a cleft between the lower part of the helix and the lobule* which was fancifully likened by an early author to a question mark…the name stuck.

*The lobe is relatively laterally recessed compared to the upper portion of the ear. 

Where found It may occur as an sporadic anomaly or occur in question mark ears—isolated (OMIM:612798) which is caused by a mutation of EDN1, the gene that encodes endothelin 1

Variations From small notch to complete separation of the helix from the lobe; uni- or bilateral; scapha may be absent

Differential diagnosis Cleft helix—cleft is within the helix.

References http://omim.org/entry/612798


saponification value 

CHEMISTRY Köttstorfer number, saponification number The number of milligrams of potassium hydroxide–KOH required to saponify 1g of fat under specified conditions, which is a measure of the average molecular weight (or chain length) of all fatty acids present in a solution. As most of the mass of a fat/tri-ester is in 3 fatty acids, the saponification value serves to compare average length of fatty acid chains. 

satellite virus

satellite_virus_HDVVIROLOGY A virus which co-infects a host at the same time as a pathogenic virus–e.g., tobacco necrosis satellite virus, which accompanies adenovirus-associated virus. Hepatitis D virus is regarded as a subviral satellite virus as it can propagate only in the presence of hepatitis B virus. 

Reference http://en.wikipedia.org/wiki/Satellite_(biology)

12 October 2014

apparent life-threatening event

PAEDIATRICS A paediatric term of art for a broad range of presentations in infants that result in an episode which is frightening to the observer and characterised by a combination of:

• Apnoea—central or obstructive

• Colour change—cyanotic, pallid, or plethoric

• Change in muscle tone—usually diminished but may be increased

• Choking or gagging

Reference http://www.rch.org.au/clinicalguide/guideline_index/Apparent_Life_Threatening_Event_ALTE/


CELL BIOLOGY Aryl hydrocarbon receptor nuclear translocator, HIF1B, class E basic helix-loop-helix protein 2, HIF1BETA, dioxin receptor—nuclear translocator, TANGO, hypoxia-inducible factor 1—beta subunit, HIF1-beta, ARNT protein, HIF-1beta, hypoxia-inducible factor 1-beta A gene (OMIM:126110) on chromosome 1q21 that encodes aryl hydrocarbon receptor, which is involved in inducing several enzymes that participate in xenobiotic metabolism–e.g., of dioxin and polycyclic aromatic hydrocarbons, resulting in translocation of the ligand-binding subunit to the nucleus.

The ARNT protein product is required for activity of the Ah (dioxin) receptor, and is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens.

As a heterodimer with HIF1A or EPAS1/HIF2A aryl hydrocarbon receptor functions as a transcriptional regulator of the adaptive response to hypoxia.

Molecular pathology t(1;12)(q21;p13) translocations resulting in a TEL-ARNT fusion protein, are linked to acute myeloblastic leukemia. 

References www.genecards.org/cgi-bin/carddisp.pl?gene=ARNT



MOLECULAR BIOLOGY Cytidine monophosphate (UMP-CMP) kinase 1—cytosolic, DCMP kinase, CMPK, UMP/CMP kinase, CMK, EC, UMK, cytidine monophosphate kinase, UMPK, UMP-CMPK, cytidylate kinase, uridine monophosphate kinase, UMP-CMP kinase, EC, deoxycytidylate kinase, UCK, nucleoside-diphosphate kinase, UMP/CMPK, uridine monophosphate/cytidine monophosphate kinase, EC 2.7.4, CK A gene (OMIM:191710) on chromosome 1p34.1-p33 that encodes an enzyme  required for cellular nucleic acid biosynthesis, which catalyses the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. The CMPK1 protein product catalyses the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP, playing an important role in de novo pyrimidine nucleotide biosynthesis. It has a preference for UMP and CMP as phosphate acceptors and displays broad nucleoside diphosphate kinase activity.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=CMPK1


Sindbis virus

VIROLOGY A mosquito-borne virus of the Togaviridae family and alphavirus subfamily, which has a single-stranded enveloped RNA genome

Epidemiology Sindbis virus is widely distributed in the native form in Africa, Asia, Eastern Europe

Clinical findings After bite by mosquito vector, fever, arthralgia, rash, malaise, Pogosta disease

Research interest Sindbis virus can be engineered to express a bacterial protein CAT–chloramphenicol transferase in cultured animal cells

Reference http://en.wikipedia.org/wiki/Sindbis_virus

super sized big beautiful woman

super_sized_big_beautiful_womanBARIATRICS, PSYCHOLOGY A euphemism for a morbidly obese woman who unapologetically identifies herself as such.

Not every fat woman is willing (or able) to stand up and be counted as a SSBBW

11 October 2014

Humpty-Dumpty etymology

humpty-dumpty_etymologyMEDICAL ETYMOLOGY Humpty-Dumptyism The redefinition of terms, words and phrases which already have one or more widely accepted definition(s) according to the whims of the writer.

The term arises from Humpty-Dumpty’s statement, in Lewis Carroll’s Through the Looking Glass, When I use a word, it means just what I choose it to mean…Humpty-Dumpty etymology is typified by the problem facing evolutionary biologists, for whom ‘homology’ refers to common evolutionary origin, while molecular biologists later applied the term to the degree of sequence relatedness. Other Humpty-Dumpty words and phrases include cute kid syndrome, hospital specialist, medical home, etc., etc., 

Reference http://en.wiktionary.org/wiki/Humpty_Dumptyism   

macular degeneration—age related—8

OPHTHALMOLOGY A form (OMIM:613778) of age-related macular degeneration—MD*.

*A multifactorial eye disease which is the most common cause of irreversible vision loss in the developed world. In most patients, MD is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid underlying the retinal pigment epithelium and within Bruch’s membrane–an elastin-containing structure.  

Molecular pathology Defects of ARMS2, which encodes a protein  thought to play a role in diseases of ageing, increase susceptibility for macular degeneration—age-related—8. 

References http://www.uniprot.org/uniprot/P0C7Q2


medical home   

A term which suffers from Humpty-Dumpty etymology, i.e., the definitions differ depending on the user.

MANAGED CARE A term of art referring to a home in the USA for which there is adequate health insurance coverage of family members for continuous preventive and primary care.

PRIMARY CARE See Patient-centered medical home

PUBLIC HEALTH A home in which hazards for a particular condition–e.g., asthma–are minimised, by reducing risks associated with exacerbation of that condition–e.g., no smoking in the house, reduction of allergens, etc.

patient centered medical home 

PRIMARY CARE  A term of art referring to a physician-led team-based health care delivery model, which provides comprehensive, continuous and coordinated* medical care to patients to obtain optimal health outcomes.

*Care coordination is central to the PCMH and requires additional resources such as health information technology, and appropriately trained staff to provide team-based care, which is compensated by payment models that encourage care coordination and patient-centered activity that may fall outside face-to-face patient encounters. The PCMH have been developed by the joint efforts of primary care provider bodies in the US, to wit, the American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians, and the American Osteopathic Association.

Ref http://en.wikipedia.org/wiki/Medical_home

physician drift

MEDSPEAK A popular term for a physician who practices in an area of medicine–in particular, cash-paid discretionary procedures such as liposuction and other cosmetic procedures by a gynaecologist, for which he or she was not formally trained in residency or fellowship.

Types of physician drift

• Upstream drift (the potentially dangerous drift) A doctor performs procedures in which he has no formal residency or fellowship training–e.g., liposuction by a family pracititioner

• Downstream drift A doctor performs procedures for which prior training and experience instruct the lack of hands-on experience in a particular procedure–e.g., botox injections by a cardiovascular surgeon.

Reference http://bsurgmed.wordpress.com/2010/09/04/physician-drift-a-new-term-for-practicing-out-of-specialty/


6 to 10 October 2014

10 October 2014 


METABOLISM Activity-regulated cytoskeleton-associated protein, Arg3.1, KIAA0278, activity-regulated gene 3.1 protein homolog, ARC/ARG3.1 

(1) A gene on chromosome 8q24.3 that encodes a protein required for consolidating synaptic plasticity and forming long-term memory, and in stress fiber dynamics and cell migration. It regulates endocytosis of AMPA receptors in response to synaptic activity, and is required for homeostatic scaling of AMPA receptors. It plays a role in regulating cell morphology and cytoskeletal organisation.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ARC


(2) ARC is also an older gene symbol for what is now–per HUGO–designated as NOL3, see there 

bubble sign

IMAGING, PAEDIATRICS  Any of 3 radiologic signs related to accumulated gas in the upper GI tract in neonates secondary to atresias at different levels:

• Stomach Single bubble

• Duodenal Double bubble

• Jejunum Triple bubble

Babies’ Bubbles

Single bubble sign A gas pocket in the upper left quadrant, seen in complete gastric stenosis at or proximal to the pyloris, or in complete gastric atresia

bubble_doubleDouble bubble sign Two upper abdominal gas pockets in neonates with duodenal atresia, Ladd’s bands, annular pancreas–which wraps around the duodenum causing luminal stenosis or the ultrarare midgut volvulus; the smaller bubble on the right corresponds to the duodenum and the larger to the left, the stomach Note: In atresia, there is no passage of gas to the intestine; thus intestinal gas militates against atresia

Triple bubble sign Any of 3 upper abdominal gas pockets considered pathognomonic for jejunal atresia, where the upper right bubble corresponds to gas in the stomach, the left bubble corresponds to gas in the duodenal bulb and the lower right bubble corresponds to gas in the pre-atretic jejunum


GERIATRICS, SURGICAL ONCOLOGY An ad hoc adjective referring to a patient whose frailty increases the risk of performing palliative procedures, but does not absolutely preclude them.  

Reference Personal communication, from surgical oncologists at GI MDT 17.02.06, Chase Farm Hospital, Enfield UK 

Livingston therapy 

QUACKERY Livingston treatment, Livingston vaccine therapy, Livingston-Wheeler therapy  An unproven method for cancer management which was based on the belief that cancer is caused by a microbe identified by one Dr Virginia Wuerthe-Caspe Livingston (and only by her), which she called Progenitor cryptocides, and that cancer would respond to “vaccines” developed by her group. 

Developed in 1971 by an American physician, Dr Livingston, who believed that cancer develops in a background of a compromised immunity and is facilitated by consumption of non-living foods, which lack critical enzymes, and poultry which she believed to be contaminated by P cryptocides. Central to Livingston therapy is the production of so-called vaccines against P cryptocides using blood and urine from the individual patient. The full therapy consists of a diet of raw vegetables, and fresh fruits, vitamin and mineral supplements, and a plant hormone abscisic acid. The clinic offering the therapy is no longer in operation

Reference http://www.cancer.org/treatment/treatmentsandsideeffects/complementaryandalternativemedicine/pharmacologicalandbiologicaltreatment/livingstone-wheeler-therapy

Moerman’s anti cancer diet 

Moerman_dietFRINGE NUTRITION, QUACKERYDr Moerman’s anti cancer diet, Moerman’s anticancer diet, pigeon diet A dietary regimen* based on the belief that poor eating habits disrupt the body’s immune defence and allow cancer to develop. It is fashioned after the eating habits of pigeons, which don’t get cancer.

*Fresh fruits and vegetables–ideally, organically grown and their juices, whole grain cereals and breads, buttermilk, natural seasonings, small amounts of diary products, and eggs, supplemented with multi-vitamins, iron, iodine and sulphur.

Prohibited foods and substances Meat, fish, shellfish, alcohol, animal fat, artificial colouring, beans, peas, lentils, mushrooms, potatoes, red cabbage, sauerkraut., cheeses with high fat and salt content, margarine and other hydrogenated oils, coffee, cocoa or caffeine containing teas, egg whites, sugar, salt, white flour, and tobacco.

Questionable aspects of regimen Moerman claimed to have found “mysterious suppressors” of cancer cells, which he called “essential substances” (he allegedly identified 8 essential substances), chronic deficiency of which led to metabolic disturbances, defective tissue regeneration, and alkalosis that enabled microorganisms–which he called “symbionts”–to transform healthy cells into cancer cells. Moerman’s “symbionts” were supposedly visible in the blood of healthy patients, but the blood of cancer patients was “crawling” with them. His lactovegetarian diet plus supplements of vitamins A, B, C, D, and E, iodine, sulphur, iron, citric acid and selenium allegedly prevented or cured the cancers by robbing the “symbionts” of their growth medium.

Formulated by Dutch pigeon fancier and physician, Cornelis Moerman (1893-1988).  No formal studies of the diet or Moerman’s so-called symbionts have been completed. 

References http://www.quackwatch.org/01QuackeryRelatedTopics/Cancer/moerman.html


9 October 2014 


MOLECULAR BIOLOGY Aprataxin, forkhead-associated domain histidine triad-like protein, AXA1, FHA-HIT, AOA, FLJ20157, AOA1, ataxia 1, early onset with hypoalbuminemia, EAOH, EC 3.-.-.-, EOAHA A gene (OMIM:606350) on chromosome 9p13.3 that encodes aprataxin, a DNA-binding protein involved in single- and double-stranded DNA break repair and base excision repair. It resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases try to repair non-ligatable breaks induced by reactive oxygen species.

Molecular pathology Defects of APTX cause ataxia-oculomotor apraxia syndrome (OMIM:208920) and are one of the causes of coenzyme Q10 deficiency (OMIM:607426) 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=APTX



PHYSIOLOGY Aquaporin 1 (Colton blood group), CO, CHIP28, aquaporin 1 (channel-forming integral protein—28kDa—CO blood group), urine water channel, water channel protein for red blood cells and kidney proximal tubule, aquaporin 1 (channel-forming integral protein—28kDa) A gene (OMIM:107776) on chromosome 7p14 which encodes aquaporin 1, one of a family of small integral membrane proteins that act as water-specific channels, providing red cell and proximal renal tubule plasma membranes with high permeability to water, permitting it to move in the direction of an osmotic gradient. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=AQP1


grid cell 

grid_cell_firingNEUROPHYSIOLOGY A type of neuron in the brains of many species which allows them to position themselves in space, and acts as an internal GPS.* These cells are located in triangular grids of synchronised neurons**. 

*Global positioning system **Their existence was predicted by WH Calvin in his 1996 monograph The Cerebral Code, based on the recurrent collateral branches in neocortical pyramidal neurons which had synaptic clusters at standard spacing. May-Britt and Edvard Moser (Norway) discovered grid cells in 2005, for which they shared the 2014 Nobel Prize in Physiology or Medicine. The accompanying image shows the trajectory of a rat that ran through a square environment in black. The red dots indicate places at which a particular entorhinal grid cell fired. It’s a bit rough, but one can appreciate the triangular spacing of the neuronal action potentials. 

Reference http://en.wikipedia.org/wiki/Grid_cell 

minors area 

EMERGENCY MEDICINE, MEDSPEAK-UK See and treat area A term of art for an area in an A&E (casualty, ER) department in the UK used to treat patients who present with illness or injury that is not immediately life-threatening–i.e., it is minor.

Minors patients are often examined by a nurse practitioner or A&E doctor, who treat a wide range of injuries, from simple cuts to major bone fractures, wounds and burns. 

place cell 

place_cellNEUROPHYSIOLOGY A type of pyramidal neuron in the hippocampus that is activated when a rat (or human) enters a particular place of the environment, the so-called place field. As a group, place cells act as a cognitive representations of a specific place in space, known as a cognitive map and are critical for intact spatial memory.

That internal cells help animals localise themselves in space was discovered by John O’Keefe, and represented a conceptual leap forward for which he shared the 2014 Nobel Prize for Physiology or Medicine. In the accompanying illustration by an unnamed grad student, the coloured dots represent 8 different place cells recorded from the CA1 layer of a rat. As the rat ran through the elevated track, different cells fired, depending on the rat’s position.  

Reference http://en.wikipedia.org/wiki/Place_cell 

8 October 2014 


PHYSIOLOGY Aralkylamine N-acetyltransferase, serotonin acetylase, SNAT, EC, DSPS, serotonin N-acetyltransferasegene (OMIM:600950) on chromosome 17q25 that encodes an acetyltransferase which is the penultimate enzyme in melatonin synthesis. AANAT controls the circadian rhythm of melatonin production in the pineal gland, thus influencing activity and sleep. It is regulated by cAMP-dependent phosphorylation, which promotes its interaction with 14-3-3 proteins and protects it from proteasomal degradation.

Molecular pathology Defects of AANAT may play a role in delayed sleep phase syndrome (OMIM:614163). 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=AANAT




boob(1) A popular term for breast.

The Online Etymology Dictionary suggests that boob came from the English bubby, further from the German Bubbi, and further still from Latin puppa (all meaning small or little girl). Note: Whilst the nominative boob is not commonly used in polite company, the adjectival boob, as in boob job, is.  

(2) An obtuse person

The OED cites the 16th century as the time at which boob and booby–for stupid person–entered English, possibly from the Latin balbus for stutter or stammer (in Spanish, un bobo is a stupid person), from whence the term boob tube, a popular synonym for a television.  

Reference http://www.stuffmomnevertoldyou.com/blog/why-do-we-call-breasts-boobs/ 

camptodactyly-arthropathy-coxa vara-pericarditis syndrome  

ORTHOPAEDICS Arthropathy-camptodactyly syndrome, camptodactyly-arthropathy-pericarditis syndrome, CAP syndrome, fibrosing serositis—familial, hypertrophic synovitis—congenital familial, Jacobs syndrome, PAC syndrome, pericarditis—arthropathy—camptodactyly syndrome An autosomal recessive disorder (OMIM:208250) characterised by camptodactyly, arthropathy, coxa vara, and pericarditis that develop with advancing age resulting in joint failure and noninflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule.  

Molecular pathology Defects of PRG4, which encodes a proteoglycan that acts as a lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid, cause camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 

References http://www.uniprot.org/uniprot/P04553 



NEUROLOGY Abixa, Akatinol, Axura, Ebixa, Memox, Namenda An NMDA–N-methyl D-aspartate–receptor antagonist that counters the toxic effects of glutamate excess, controlling the symptoms of moderate to severe Alzheimer’s disease.

Adverse effects Hallucinations, confusion, dizziness, headache, hypertonia, nausea, vomiting, constipation, hypertonia, cystitis, increased libido

Proposed mechanism Interferes with homocysteine binding at the NMDA receptor; homocysteine also mediates excitotoxicity, and disturbs glutamatergic neurotransmission.

Reference N Engl J Med 2003; 349:609-10c 


EMBRYOLOGY Protamine 1, P1, cysteine-rich protamine, cancer/testis antigen family 9—member 1, cancer/testis antigen family 94, sperm protamine P1, member 1—testis specific protamine 1, CT94.1 A gene (OMIM:182880) on chromosome 16p13.2 that encodes protamine 1, a protein which substitutes for histones in the chromatin of sperm during the haploid phase of spermatogenesis, compacting sperm DNA into a highly condensed (circa 5% of normal volume), stable and inactive complex. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRM1


7 October 2014

hypogonadotropic hypogonadism 3 with or without anosmia

METABOLISM A disorder (OMIM:244200) characterised by absent or incomplete sexual maturation by age 18, low levels of circulating gonadotropins and testosterone and no other hypothalamic-pituitary axis defects, variably accompanied by extragenital/extragonadal defects–e.g., anosmia or hyposmia due to absence/hypoplasia of olfactory bulbs and tracts, cleft palate, and sensorineural hearing loss.

Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesising neurons. Idiopathic hypogonadotropic hypogonadism accompanied by anosmia is known as Kallmann syndrome; if the patient has a normal sense of smell, the condition is termed normosmic idiopathic hypogonadotropic hypogonadism. 

Molecular pathology Defects of PROKR2, which encodes the G protein-coupled receptor for prokineticin 2, a protein that promotes angiogenesis, induces strong gastrointestinal smooth muscle contraction, mobilises calcium, stimulates phosphoinositide turnover and activates p44/p42 mitogen-activated protein kinase, cause hypogonadotropic hypogonadism 3 with or without anosmia.

References http://www.uniprot.org/uniprot/Q8NFJ6



CELL BIOLOGY Prokineticin 2, KAL4, protein Bv8 homolog, HH4, BV8, MIT1, PK2 A gene (OMIM:607002) on chromosome 3p21.1 that encodes a protein expressed in the suprachiasmatic nucleus which may synchronise output of the circadian clock, and may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb.

Molecular pathology Defects of PROK2 cause hypogonadotropic hypogonadism type 4 with or without anosmia (OMIM:610628)

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROK2



CELL BIOLOGY Prokineticin receptor 2, G protein-coupled receptor 73-like 1, PKR2, Kallmann syndrome 3 (autosomal dominant), GPR73b, PK-R2, GPRg2, G-protein coupled receptor 73-like 1, GPR73L1, KAL3 A gene on chromosome 20p12.3 that encodes the G protein-coupled receptor for prokineticin 2, one of a family of proteins that promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. PROKR2 activation mobilises calcium, stimulates phosphoinositide turnover and activates p44/p42 mitogen-activated protein kinase. 

Molecular pathology Defects of PROKR2 cause hypogonadotropic hypogonadism 3 with or without anosmia (OMIM:244200).

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROKR2


racial passing

SOCIOLOGY Passing A term of art referring to the dilution* of a “pure” black person’s bloodline to such a point that he or she passes visual scrutiny and would be accepted as white (or as another race)

*By mating and procreating with a person of another race

Reference http://en.wikipedia.org/wiki/Passing_(racial_identity)


GLOBAL VILLAGE A term of art used in a National Public Radio/BBC broadcast (07/10/2014)  referring to the reduction in numbers of personal protective garments between the time they are shipped to Ebola virus hotspots and the time they are opened by endusers, which is directly related to diversion of the garments to sold on the black market. 

Whilst this is a new usage of shrinkage, one can see its potential utility referring to all ilk of diversion of products to the black market in countries where corruption is a norm and theft of products intended for humanitarian causes a way of doing business.

social accountability

SOCIAL MEDICINE The extent and capacity of a popular to hold the state and service providers accountable and make them responsive to needs of citizens and beneficiaries.


Staphylococcus hyicus

staphylococcus_hyicusMICROBIOLOGY A gram positive coccal bacteria that grow in clusters. It can be isolated from skin infections in pigs, cattle, and horses and causes exudative dermatitis/greasy pig disease.

6 October 2014 


DRUG SLANG verb To engage in an abuse drug-related activity as in, to do a joint–smoke marijuana, do a line–snort a “line” of cocaine, etc

SEXOLOGY verb A highly colloquial expression for engaging in sexual activity with a partner, as in to do Jane and/or John

VOX POPULI verb To implement

noun Hairdo The style of one’s–usually understood to be a woman’s–hair post beautician. 


HAEMATOLOGY Protein C receptor—endothelial, CCD41, EPCR, cell cycle—centrosome-associated protein, activated protein C receptor, centrocyclin, APC receptor, endothelial protein C receptor, CD201 antigen, endothelial cell protein C receptor, CCCA A gene (OMIM:600646) on chromosome 20q11.2 that encodes a receptor for activated protein C, a serine protease activated by and involved in blood coagulation.

Molecular pathology Defects of PROCR increase susceptibility for venous thromboembolism, myocardial infarction, and late fetal loss in pregnancy. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PROCR


serious case review 


A case review carried out in the context of the UK Department of Health’s Working Together to Safeguard Children framework, which is intended to

• Establish whether lessons can be learned from the case about the way in which local professionals and agencies work together to safeguard and promote the welfare of children.

• Identify what those lessons are, how they will be acted on, and what is expected to change as a result

• Improve inter-agency working and better safeguard and promote the welfare of children

A serious case review is held when a child has died and abuse or neglect is known or suspected to be a factor in the child’s death.  Reviews may also be held when a child has been seriously injured through abuse or neglect, and where lessons could be learnt to avoid a similar situation arising in the future.

Reasons for conducting Serious Case Reviews

• A child dies (including by suicide), and abuse or neglect is known or suspected to be a factor in the death

• A child sustains a potentially life-threatening injury or serious and permanent impairment of health and development through abuse or neglect; or

• A child has been subjected to particularly serious sexual abuse; or

• A parent has been murdered and a homicide review is being initiated; or

• A child has been killed by a parent with a mental illness; or

• The case gives rise to concerns about inter-agency working to protect children from harm



METABOLISM Sorbitol dehydrogenase, L-iditol 2-dehydrogenase, EC , SORD1, EC 1.1.1 A gene on chromosome 15q15-q21.1 that encodes sorbitol dehydrogenase, which converts sorbitol to fructose using NAD+ cofactor and catalyses the interconversion of polyols (polyol pathway) and their corresponding ketoses (the polyol pathway is thought to cause the cell toxicity of diabetic hyperglycemia). Sorbitol dehydrogenase may play a role in the sperm motility by providing an energy source. It is up-regulated by androgens and down-regulated by castration. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=SORD


vertical talus—congenital 


EMBRYOLOGY Congenital rocker bottom feet, pes valgus—congenital convex A rare malformation (OMIM:192950) characterised by vertically oriented talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. Vertical talus is usually associated with other congenital defects and only rarely is an isolated deformity.  

Molecular pathology Defects of HOXD10, encodes a protein with a homeobox DNA-binding domain that is expressed in developing limb buds and is involved in differentiation and limb development, cause vertical talus—congenital. 

References http://www.uniprot.org/uniprot/P28358 http://www.omim.org/entry/192950