26 to 31 October 2014

For 30 October 2014 blog, see below 

New material on hold 

After adding new material religiously for the past 2 and a half years, I will be taking a break to address the simple fact that the terminology on this website is largely invisible to search engines (Google, Bing, Yahoo). That comes from one David Pollak, who is my SEO guru. The bad news is that it is likely to take about 6 months before I’m back up and running (and adding) new material. It will be a while before I know if the effort will bear fruit. 

Oh Snap!

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

http://www.modernmedicaldictionary.com/about/1245-2/ 

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).  

30 October 2014

assuming ambient temperature

Assuming room temperature, assuming seasonal temperature

Note on usage: Whilst assuming room temperature got far more hits 339,000 on 30/10/2014, (1) it appears to be used light-heartedly (and thus unprofessionally) and (2) it is incorrect in that a body will assume the temperature where it lays, regardless of whether indoors or out, thus making assuming ambient temperature (47,300 hits) the preferred term

FORENSICS A self-explanatory term for the change of a cadaver’s temperature to match that of its surroundings, as occurs after death.

VOX POPULI A term which has been used as a flippant synonym for dying or dead.

Reference http://ahlgronicus.blogspot.com/2011/03/medical-slang-round-up.html

ISYNA1

METABOLISM inositol-3-phosphate synthase 1, EC 5.5.1.4, IPS, myo-inositol 1-phosphate synthase A1, INOS, INO1, IPS1, MIP synthase A gene (OMIM:611670) on chromosome 19p13.11 that encodes an inositol-3-phosphate synthase, which plays a critical role in myo-inositol synthesis by catalysing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ISYNA1

http://www.uniprot.org/uniprot/Q9NPH2

ITGA2 

CELL BIOLOGY, HAEMATOLOGY Integrin—alpha 2 (CD49B—alpha 2 subunit of VLA-2 receptor), human platelet alloantigen system 5, CD49B, collagen receptor, platelet antigen Br, platelet membrane glycoprotein Ia, platelet glycoprotein GPIa, very late activation protein 2 receptor—alpha-2 subunit, CD49 antigen-like family member B, VLA2 receptor—alpha-2 subunit, BR, CD49b antigen, HPA-5, VLA-2, BDPLT9, VLAA2 A gene (OMIM:192974) on chromosome 5q11.2 that encodes an integrin alpha chain protein which, like all integrins, forms a heterodimer with a beta chain, thereby participating in an array of cell-cell and cell-matrix interactions,  playing a major role in cell migration, organ and tissue development, and differentiation. Alpha 2 beta 1 heterodimers serve as receptors for laminin, collagen, collagen C-propeptides, fibronectin and E-cadherin, and are responsible for adhesion of platelets and other cells to the extracellular matrix, modulation of collagen and collagenase gene expression and organisation of newly synthesised extracellular matrix.

Molecular pathology Defects of ITGA2 have been linked to fetal and neonatal alloimmune thrombocytopaenia.

References www.genecards.org/cgi-bin/carddisp.pl?gene=ITGA2

http://www.uniprot.org/uniprot/P17301 

suicide terrorism

GLOBAL VILLAGE, TERRORISM The commission of suicide to serve a perceived greater cause, in which a person kills him/herself, taking as many others–regardless of the victims’ blameworthiness–of the “opposite” side of the political fence as he/she can, to advance a particular political agenda.

References http://en.wikipedia.org/wiki/Suicide_attackDiscover Oct, 2003, p20-22

Treponema denticola 

DENTISTRY, MICROBIOLOGY A gram-negative, obligate anaerobic, motile and highly proteolytic spriochaete which may be isolated from the oral cavity. Increased amounts of T denticola are linked to periodontitis and periodontal disease. 

Diseases linked to T denticola Early-onset periodontitis, necrotizing ulcerative gingivitis,  acute pericoronitis

Virulence factors Outer-sheath-associated peptidases, chymotrypsin-like and trypsin-like proteinases, hemolysins, hemagglutinatinins, matrix protein binding adhesins, cell-binding adhesins, and an outer-sheath protein with pore-forming properties

References Crit Rev Oral Biol Med. 2001;12(5):399-413

http://en.wikipedia.org/wiki/Treponema_denticola

image from http://jdr.sagepub.com/content/90/6/691/F2.large.jpg

29 October 2014

cataract 14—multiple types 

OPHTHALMOLOGY Cataract—zonular pulverulent 3 A cataract* (OMIM:601885) of genetic origin, which includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly affected. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes

*An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive.

Molecular pathology Defects of GJA3, which encodes a gap junction protein (connexins) that is a component of lens fibre gap junctions, cause cataract 14—multiple types.

References http://www.uniprot.org/uniprot/Q9Y6H8

GJA5 

CELL BIOLOGY Gap junction protein—alpha 5—40kDa, CX40, connexin 40, gap junction protein—alpha 5—40kD (connexin 40), connexin-40, gap junction protein—alpha 5—40kDa (connexin 40)  A gene on chromosome 1q21.1, that encodes an alpha chain of the gap junction protein family (connexins). 

Molecular pathology GJA5 mutations has been associated with atrial fibrillation.

References www.genecards.org/cgi-bin/carddisp.pl?gene=GJA5

http://www.uniprot.org/uniprot/P35212

GLO1

CELL BIOLOGY Glyoxalase I, HEL-S-74, aldoketomutase, epididymis secretory protein Li 74, ketone-aldehyde mutase—lactoyl glutathione lyase, S-D-lactoylglutathione methylglyoxal lyase, EC 4.4.1.5, methylglyoxalase, GLOD1, aldoketomutase, GLYI, methylglyoxalase A gene (OMIM:138750) on chromosome 6p21.3-p21.1 that encodes an enzyme which is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. 

Ref http://www.genecards.org/cgi-bin/carddisp.pl?gene=GLO1

http://www.uniprot.org/uniprot/Q04760

superwoman ethic

superwoman_ethicMEDICAL WORK A life philosophy that may be adopted by women in science and medicine, who overwork themselves as a means of offsetting inequities in promotions and academic advancement.

As potentially useful as this term might be, it got no more than a handful of hits in secondary sources and is probably best quietly buried near the cemetery wall.

temperature-sensitive folding

MOLECULAR BIOLOGY A self-explanatory term referring to the changes in the conformation of a protein or other biomolecule in three-dimensional space, which will affect ow well it will bind to its cognate ligand.

Low molecular weight compounds have the potential for correcting temperature folding defects that result in human disease–e.g., the folding defect associated with the DF508 cystic fibrosis transmembrane regulator (CFTR) protein.

Reference J Clin Invest. Mar 15, 1997; 99(6): 1432–1444.doi:  10.1172/JCI119302

28 October 2014

bird arm 

bird_armsORTHOAEDICS A term of uncertain clinical utility for an arm that is greatly reduced in diameter due to muscle atrophy

cataract 1

OPHTHALMO- LOGY An inherited defect (OMIM:116200) of the crystalline lens which takes various clinical forms, including congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types. In some cases, cataract 1 is associated with microcornea without any other systemic anomaly or dysmorphism.

*An opacification of the crystalline lens of the eye that often results in visual impairment or blindness. Cataracts vary in morphology, are often confined to a portion of the lens, and may be static or progressive. 

Molecular pathology Defects of GJA8, which encodes a calcium and pH-dependent transmembrane connexin protein required for lens growth and maturation of lens fibre cells, cause cataract 1, which includes multiple types of cataract. 

References www.genecards.org/cgi-bin/carddisp.pl?gene=GJA8

http://www.uniprot.org/uniprot/P48165 

Ebola SWAT team

Ebola_SWATPUBLIC HEALTH A term of art coined by the Obama Administration for either of two types of teams that would be deployed urgently–i.e., à la SWAT* team—to sites and hospitals to either: 

•Special Weapons And Tactics

(1) Prepare hospitals in cities deemed most likely to see new cases of Ebola, a viral infection with a 50% to 75% mortality rate, a task assigned to the Fast Assessment and Support Team (FAST), or

(2) Help a hospital respond to a new case of Ebola, which are known as CERTS—CDC Ebola Response Teams), and consist of 10-20 people who can be sent to any hospital with a new case

Reference  http://www.dailymail.co.uk/news/article-2805316/New-Ebola-response-squads-standby-rush-new-case-identified-reveals-CDC.html#ixzz3HV9ZgVLJ 

GJA8

OPHTHALMOLOGY Gap junction protein—alpha 8—50kDa, cell surface glycoprotein, CX50, lens fibre protein MP70, connexin-50, CAE1, gap junction alpha-8 protein, lens intrinsic membrane protein MP70, CAE, CZP1, Cx50 A gene (OMIM:600897) on chromosome 1q21.1, that encodes a calcium and pH-dependent transmembrane connexin protein required for lens growth and maturation of lens fibre cells. 

Molecular pathology Defects of GJA8, which encodes a transmembrane connexin protein required for lens growth and maturation of lens fibre cells, cause cataract 1, a term that encompasses multiple types of cataract.

Reference www.genecards.org/cgi-bin/carddisp.pl?gene=GJA8

http://www.uniprot.org/uniprot/P48165   

trafficked person

HUMAN RIGHTS A WHO term of art for a victim of human trafficking, who is often subjected to physical violence, sexual abuse, psychological trauma, and severe food deprivation. An estimated 2.5 million people are in situations of forced labour due to trafficking; the statistics are unreliable

UN Protocol to prevent, suppress,and punish trafficking in persons

www.unhcr.org/refworld/docid/4720706c0.html; BMJ 2009;339:642-3

27 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.

GJA1 

EMBRYOLOGY Gap junction protein—alpha 1—43kDa (Connexin 43), GJAL, ODDD, oculodentodigital dysplasia (syndactyly Type III), Connexin 43, AVSD3, CMDR, CX43, HLHS1, ODOD, HSS, SDTY3 A gene on chromosome 6q21-q23.2, which encodes an alpha chain of the gap junction protein family or connexins. GJA1 is the major protein of gap junctions in the heart, which are thought to play a crucial role in the synchronized contraction of the heart and in embryonic development.

Molecular pathology Defects of GJA1 cause:

• Atrioventricular septal defect 3 (OMIM:600309)

• Craniometaphyseal dysplasia—autosomal recessive (OMIM:218400)

• Hallermann-Streiff syndrome (OMIM:234100)

• Hypoplastic left heart syndrome 1 (OMIM:241550)

• Oculodentodigital dysplasia (OMIM:164200)

• Oculodentodigital dysplasia—autosomal recessive (OMIM:257850)

• Syndactyly type 3 (OMIM:186100) 

References www.genecards.org/cgi-bin/carddisp.pl?gene=GJA1

http://www.uniprot.org/uniprot/P17302  

atrioventricular septal defect 3

GENETICS A congenital heart malformation (OMIM:600309) characterised by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form entails underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form—ostium primum atrial septal defect—is characterised by separate atrioventricular valvar orifices despite a common junction

Reference http://www.omim.org/entry/600309 

craniometaphyseal dysplasia—autosomal recessive

GENETICS An osteochondrodysplasia (OMIM:218400) characterised by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to mandibular asymmetry and cranial nerve compression, which may lead to hearing loss and facial palsy.

Reference http://www.omim.org/entry/218400

Hallermann-Streiff syndrome

GENETICS Audrey I syndrome, congenital sutural alopecia, dyscephalia mandibulo-oculofacialis, dyscephalia oculomandibularis-hypotrichosis, Fremerey-Dohne syndrome, François’ dyscephalic syndrome, François syndrome, Hallermann syndrome, Hallermann’s syndrome, Hallermann-Streiff-François syndrome, mandibulo-ocular dyscephalia with hypotrichosis, mandibulo-oculofacial dyscephalia, mandibulo-oculofacial dyscephaly, mandibulo-oculofacial dysmorphia, mandibulo-oculofacial syndrome, oculomandibular dyscephaly, oculomandibulodyscephaly, oculomandibulodyscephaly with hypotrichosis, oculomandibulofacial syndrome, progeria with cataract, progeria with cataract or microphthalmia, progeria with microphthalmia, Ullrich-Fremerey-Dohna syndrome, Ullrich syndrome An autosomal recessive disorder (OMIM:234100) characterised by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, bird-like face, hypoplastic mandible, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature, (dwarfism), hypotrichosis, and congenital cataract, occasionally accompanied by mental retardation.

Reference http://www.omim.org/entry/234100  

hypoplastic left heart syndrome 1

GENETICS A syndrome (OMIM:241550) due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.

Reference http://www.omim.org/entry/241550 

oculodentodigital dysplasia

GENETICS Dysplasia oculodentodigitalis, Gillespie syndrome, Meyer Schwickerath-Weyers syndrome, Mohr syndrome (in part), oculodentodigital syndrome, oculodentoosseous dysplasia, oculodentoosseous syndrome, ODD syndrome, ODDD, ODOD An über rare type of ectodermal dysplasia  (OMIM:164200) characterised by typical facies and variable involvement of the eyes, teeth, and digits (fingers/toes).

Clinical findings

• Facies Narrow, pinched nose, hypoplastic alae nasi, prominent columella, thin anteverted nares, narrow nasal bridge, and prominent epicanthic folds, giving the impression of hypertelorism.

• Eye Microphthalmia, microcornea.

• Teeth Small and caries-prone.

• Digits Complete syndactyly of 4th and 5th fingers (syndactyly type III) ; third finger may be involved, commonly accompanied by camptodactyly

Other findings include cardiac malformations (rare), iris atrophy, glaucoma, fine fragile hair, conductive deafness, ataxia, spastic paraplegia, bladder and bowel dysfunction. 

Reference http://www.omim.org/entry/164200  

syndactyly type 3 

GENETICS Ring and little finger syndactyly, syndactyly of fingers IV and V A form (OMIM:186100) of syndactyly* characterised by usually complete and bilateral syndactyly between the fourth and fifth fingers, usually limited to soft tissue, but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected.

*A congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached.

Reference http://www.omim.org/entry/186100  

26 October 2014

baby daddy 

SOCIAL MEDICINE As originally defined in the Oxford English Dictionary, a baby daddy is the father of a woman’s child, who is not her husband or (in most cases) her current or exclusive partner.

The term has morphed and, in some circles, come to mean the father of a child regardless of whether the mother is engaged or married to the father.

Reference Oxford English Dictionary, in http://www.islandmix.com/backchat/f9/where-do-baby-daddies-come-origins-phrase-162073/

Baby Doe

ETHICS, PAEDIATRICS An infant with Down syndrome born in 1982 in Indiana who had a tracheo-oesophageal fistula that required surgery for the infant’s prolonged survival; given the infant’s anticipated poor quality of life; the parents decided to withhold treatment with the approval of the local court and the child died within 6 days

The ensuing ethical debate resulted in an interpretation of section 504 of the Rehabilitation Act of 1973, which views as unlawful the withholding of nutritional support or necessary medical treatment from handicapped infants. The Baby Doe Law or Baby Doe Amendment (USCA 42, Chapter 67, Sec. 5106a) passed in 1984 and delineated the specific criteria and guidelines for treating seriously ill and/or disabled newborns, regardless of the wishes of the parents.

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

Baby Fae

baboon_carPAEDIATRIC SURGERY A 2-week-old premature infant with a hypoplastic left heart syndrome* who survived for 20 days in October 1984 when she a walnut-sized heart from a 71⁄2 month-old baboon was transplanted by paediatric surgeon Leonard Bailey. The heart was rejected shortly thereafter and the baby died at one month of age.

*A condition characterised by hypo- or agenesis of the left ventricle, aortic and mitral valves; the ascending and transverse aorta is narrowed with a diaphragm-like aortic coarctation at the preductal aortic isthmus; postnatal life hinges on adequate blood supply–i.e., is ductus dependent, unrestricted atrial shunting, and a balance between the pulmonary and systemic vascular resistance.

The case opened an ethical can of worms given that Bailey didn’t even bother looking for a compatible (human) baby’s heart, thus placing the exercise squarely in the realm of an experimental procedure for which parents should not volunteer their children. Bailey later successfully performed an allograft heart transplant on an infant, but was criticised by the AMA and various medical journals for his prior monkey business. 

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

baby mama

SOCIAL MEDICINE Baby-mama, baby mother As originally used, a baby mama is a mother who is not married to the (usually illegitimate) child of the man who sired the child.

The term has morphed in some circles to mean any woman who is carrying or has delivered the child of a particular man, regardless of whether or not she is married to the father. Etymologists are uncertain about the term’s origin, with some pointing to the Caribbean and others pointing to England of the 16th and 17th centuries

Reference http://www.theroot.com/articles/culture/2011/03/baby_mama_the_origin_of_the_term.2.html

Baby Theresa

ETHICS An anencephalic infant (Theresa Ann Campo) born in 1992 in Florida, whose parents wanted her declared dead at birth–she lived 10 days–in order to donate her organs.

The 2 courts to which the parents appealed rejected their request as (1) Florida law defines brain death as the cessation of brain activity, including the brain stem, which had not occurred in the baby, and (2) It would become a license to prematurely kill an infant for the express purpose of harvesting the organs 

References http://articles.latimes.com/1992-04-16/news/mn-888_1_baby-theresa

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21 to 25 October 2014

25 October 2014

adult polyglucosan body disease 

adult_polyglucosanMETABOLISM A late-onset, slowly progressive condition (OMIM:263570) affecting the central and peripheral nervous systems.

Clinical findings Patients typically present after age 40 years with a combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder, variably accompanied by cerebellar dysfunction and extrapyramidal signs.

Pathology The hallmark of disease is a widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, confined to neuronal and astrocytic processes.

Molecular pathology Defects of GBE1, which encodes an enzyme responsible for glycogen branching, a metabolic step required for increasing glycogen solubility and reducing intracellular osmotic pressure, cause adult polyglucosan body disease.

References http://www.uniprot.org/uniprot/Q04446

http://www.omim.org/entry/263570 

democide 

GLOBAL VILLAGE, HUMAN RIGHTS The murder of any person or people by a government, including genocide, politicide, and mass murder RJ Rummel

Per Rummel, democide passed war as the leading cause of non-natural death in the 20th century

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

GBE1

METABOLISM Glucan (1,4-alpha-)—branching enzyme 1, glycogen storage disease type IV, brancher enzyme, 1,4-alpha-glucan-branching enzyme, EC 2.4.1.18, amylo-(1,4 To 1,6) transglucosidase, APBD, Amylo-(1,4 To 1,6) transglycosylase A gene (OMIM:607839) on chromosome 3p12.2 that encodes a glycogen branching enzyme which catalyses the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighbouring glycogen chain. Branching of chains is essential for increasing glycogen solubility and, consequently, in reducing intracellular osmotic pressure. It is concentrated in the liver and muscle.

Molecular pathology Defects of GBE1 cause

• Adult polyglucosan body disease (OMIM:263570)

• Glycogen storage disease IV (Andersen’s disease) (OMIM:232500).

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBE1

http://www.uniprot.org/uniprot/Q04446

Ebola czar 

PUBLIC HEALTH A popular term for the person responsible for managing the US government’s response to the Ebola epidemic, the first of whom is Ronald Klain, a bureaucrat who is highly regarded for his supervision of the allocation of funds in the stimulus act.

Public health credentials 0

Infectious disease background 0

Reference http://www.cnn.com/2014/10/17/politics/ebola-czar-ron-klain/

GCKR

METABOLISM Glucokinase (hexokinase 4) regulator, GKRP, glucokinase (hexokinase 4) regulatory protein A gene (OMIM:600842) on chromosome 2p23 that encodes a protein of the GCKR subfamily of the SIS (Sugar ISomerase) regulatory proteins, which inhibits liver and pancreatic islet cell glucokinase by binding non-covalently to form an inactive complex with it. 

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

http://www.uniprot.org/uniprot/Q14397

24 October 2014

Ebola vaccine 

VIROLOGY VSV-EBOV An Ebola vaccine produced from vesicular stomatitis virus–VSV, which causes an oral disease in cattle, but very rarely in humans. A single gene is removed from VSV, rendering it non-pathogenic to humans, and a single gene from Ebola virus is inserted. The inserted gene causes Ebola virus proteins to sprout from the surface.

Whilst these proteins do not cause Ebola, but they do evoke a protective immune response in 100% of tested primates.

The vaccine languished on a lab shelf for 10 years after development by Canadiian scientists at the Public Health Agency’s National Microbiology Laboratory. It was licensed to NewLink Genetics, in Ames, Iowa in 2010 and, given the 2014 Ebola crisis, is being evaluated in no less than 5 clinical trials.

Reference http://www.dailymail.co.uk/sciencetech/article-2806791/The-Canadian-Ebola-vaccine-shelved-TEN-YEARS-despite-100-effective-rushed-human-trials.html

firedamp

OCCUPATIONAL MEDICINE Fire damp A colourless and odourless flammable mixture of gases, that is primarily composed of methane (60%), as well as nitrogen, and carbon dioxide. Firedamp is found in coal mines, more commonly in regions where the coal is bituminous, and puts the miners at risk for death by asphyxia or explosion.

The name is derived from the German, Dampf, for vapour. 

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

GBD2

GENETICS A genetic locus on chromosome 1p36.21 which is thought to contain a gene that increases susceptibility to gallbladder disease 2 (OMIM:609918). 

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBD2

GBD3 

GENETICS A genetic locus on chromosome 1p34.3 which is thought to contain a gene that increases susceptibility to gallbladder disease 3 (OMIM:609919).  

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=GBD3

grits-homosexuality link

grits_homosexualityVOX POPULI A recently disseminated hoax report (allegedly by researchers at Stanford University, allegedly reported in Nature Medicine by Edmund Bergler, et. al) that linked consumption of grits, a cooked breakfast grain in fathers, to an increased likelihood of homosexuality in their sons, due to grits’ high content of homotonin (a non-existent chemical). 

Reference http://badsatiretoday.com/eating-grits-linked-to-homosexuality/

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)   

GDF5

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) 

References www.genecards.org/cgi-bin/carddisp.pl?gene=GDF5

http://www.uniprot.org/uniprot/P43026

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.

Reference http://www.omim.org/entry/201250 

angel-shaped phalango-epiphyseal dysplasia 

angel_shaped_phalango_epiphysealGENETICS 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.

Reference http://www.omim.org/entry/615072

image from Echo train, Resident, Ohio State University Medical Center, Ohio, USA

brachydactyly A1—C

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. 

Reference http://www.omim.org/entry/615072 

brachydactyly A2

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 

Reference http://www.omim.org/entry/112600 

brachydactyly C

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 

chondrodysplasia—Grebe type

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.

Reference http://www.omim.org/entry/615072 

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.

Reference http://www.omim.org/entry/228900

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.

Reference http://www.omim.org/entry/610017

osteoarthritis 5

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. 

Reference http://www.omim.org/entry/612400

symphalangism—proximal—1B 

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.  

Reference http://www.omim.org/entry/615298

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.

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDAP1

http://www.uniprot.org/uniprot/Q8TB36 

fame-obsessed culture

fame_culturePSYCHOLOGY 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. 

GDI1

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). 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDI1

http://www.uniprot.org/uniprot/P31150 

PMP  

Abbreviation for:

pain management program

Pathogen Modeling Program

patient management problem

patient medication profile

Patient of the Month Program 

peroxisomal membrane protein

phenoxymethylpenicillin

plasma membrane potential

plexus muscularis profundus

postmastectomy pain

postmenopausal

previous menstrual period

pseudomyxoma peritonei

pseudosarcomatous myofibroblastic proliferation 

stalk 

ANATOMY noun The cord-like structure that connects the pituitary gland to the hypothalamus

stalk_colon_endoscopyPATHOLOGY noun A neck-like fibrovascular structure (see image) that connects a pedunculated polyp to the mucosa in a neoplasm–e.g., an adenomatous polyp or villous adenoma 

PUBLIC SAFETY verb To actively pursue, harass, or threaten a person who is an unwilling recipient of the stalker’s advances

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16 to 20 October 2014

20 October 2014

dart-out

PUBLIC HEALTH Child dart-out, dart-out accident, dart-out phenomenon noun A popular back formation from the verbal form–to dart out–for a child who runs into a street with moving motor vehicles–MVs, often chasing a ball.

In the typical dart out, the child is undetected until directly in front of the MV, as he/she is hidden from view by parked vehicles and tall stationary objects.

Dart outs are a common cause of accidents and fatalities in children age 5-10; younger children are more often run over by a parent backing out of driveway.

Reference http://www.legalmatch.com/law-library/article/motorist-negligence-in-child-dart-out-cases.html

elliptocytosis type 1 

HAEMATOLOGY 4.1- trait, 4.1-minus trait, elliptocytosis—Rhesus-linked type, protein 4.1 of erythrocyte membrane—defect of A Rhesus-linked form (OMIM:611804) of hereditary elliptocytosis*, which is characterised by variable haemolytic anaemia and elliptical or oval red cell shape.

*A genetically heterogeneous, autosomal dominant haematologic disorder

Molecular pathology Defects of EPB41, which encodes protein 4.1 and which, with spectrin and actin, constitutes the red cell membrane cytoskeletal network responsible for maintaining red cell shape and deformability,  cause elliptocytosis type 1. 

References http://www.uniprot.org/uniprot/P11171

http://www.omim.org/entry/611804

GEMIN4

CELL BIOLOGY Gem (nuclear organelle) associated protein 4, p97, HC56, gem-associated protein 4, HCAP1, HHRF-1, HCC-associated protein 1 A gene (OMIM:606969) on chromosome 17p13.3 that encodes gem-associated protein 4, a member of the SMN–survival of motor neuron–complex*, which plays a key role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.

*The complex regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins.

References  http://www.genecards.org/cgi-bin/carddisp.pl?gene=GEMIN4

http://www.uniprot.org/uniprot/P57678

three hots and a cot 

three_hotsSOCIAL MEDICINE A rhymed phrase that translates as three hot meals and a bed to sleep on, which refers to any place* that offers–by design or default–that to displaced or homeless individuals.

*Shelters, prison/jail, or hospitals. I couldn’t trace the origin of the phrase. 

total body failure 

VOX POPULI A term which, because it lacks a formal medical definition, falls victim to Humpty-Dumpty etymology* and can mean anything the user chooses it to mean.

Total body failure has been used for the morbidly obese, and in preterminal multisystem organ failure as part of the dying process in AIDS, cancer, the elderly, or elderly cancer patients with AIDS.

*Humpty-Dumpty famously said, in Lewis Carroll’s Through the Looking Glass, When I use a word, it means just what I choose it to mean…Given the above caveat, the term is best not used by health care professionals.

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.

ENFL2

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

ENG

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

http://www.uniprot.org/uniprot/P17813

EPAS1

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

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

EPC2

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 

http://www.uniprot.org/uniprot/Q52LR7

erythrocytosis—familial—4

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

http://www.omim.org/entry/611783 

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 

doi:10.1186/1746-1596-9-12

ENSA

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

http://www.uniprot.org/uniprot/O43768

ENO1

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 4.2.1.11, 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

http://www.uniprot.org/uniprot/P06733

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.

doi:10.1016/j.jacc.2012.07.074

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.

http://www.businessinsider.com/man-with-clipboard-didnt-need-hazmat-2014-10

EOMES 

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

http://www.uniprot.org/uniprot/O95936

EOS

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

http://www.omim.org/entry/261500 

ERAP1

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 3.4.11.3 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

http://www.uniprot.org/uniprot/Q9NZ08

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

TEETH 

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 

TEMPEST 

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

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