16 to 20 September 2014

16 September 2014 (see below)

By way of explanation 

I began collecting new medical terms as a hobby in 1984, premised on my belief that the standard medical dictionaries (the Dorland’s, Stedman’s and Taber’s medical dictionaries) were losing touch with the spoken and working language of medicine. My musing on medical lexicography are delineated on the page titled: 

New Medical Dictionary

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

I went live with modernmedicaldictionary.com in May, 2012 and blog about 5 terms/day, which derive from a growing database that now has 181,863 entries* (The Dorland’s Medical Dictionary has less than 124,000 entries).

*I’ll be making portions available as iOS/Android apps…the first product, Medical Abbreviations, should be out soon…stay tuned.

There also seems to be interest in an annual subscription of the accumulating pool of blogged terms (as of mid-2014, well over 4000 terms) 

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 4000+ terms now included under LIST OF TERMS separated by letters…you’ll find gems aplenty. I plan to offer this growing pool of 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 behavioral 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, 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, erlotinib, erotic asphyxiation, erotica, error catastrophe theory, Erysichthon syndrome, erythrocytosis—familial type 1, erythroid sarcoma, ESCRT complex, esprit de corps, ETAP, trial, eteplirsen, ETFDH, ethical imperialism, ethylmalonic encephalopathy, ETM2, 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, 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

References http://www.omim.org/entry Reference(s) 

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. Until they change the name of the language we speak to American, orthographic principles should follow received pronunciation (Queen’s English).  

16 September 2014 

brick-red sputum 

MICROBIOLOGY, RESPIRATORY MEDICINE A popular term for the thickened mixture of blood, mucus, bacteria, and necrotic lung tissue which is characteristically seen in Klebsiella pneumoniae pneumonia

DSPP 

DENTISTRY Dentin sialophosphoprotein, DSP, DMP3, DFNA39, dentin phosphophoryn, DGI1, dentin phosphoprotein, DPP, dentin phosphoryn, DTDP2, dentin sialoprotein A gene (OMIM:125485) on chromosome 4q21.3 that encodes dentin sialophosphoprotein, one of the two main proteins of the dentin extracellular matrix, which is secreted as a preproprotein by odontoblasts and cleaved into dentin sialoprotein and dentin phosphoprotein. It may play a role in dentin biomineralisation.

Molecular pathology Defects of DSPP cause deafness—autosomal dominant 39 with dentinogenesis imperfecta 1 (OMIM:605594). 

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

http://www.uniprot.org/uniprot/Q9NZW4

eugenics movement 

eugenics_movementETHICS, HISTORY of MEDICINE A movement and social initiative that sought to breed better babies with the lofty goal of improving the species. The movement was popular in the US, UK, and Northern Europe from 1905 until the early 1930s, but lost favour with the advent of the Nazi pseudoscientific eugenics program, which eliminated all possible Lebensunwertes Leben (German, colloquially, the living who don’t deserve to live), justifying anti-Semitic genocide.

The belief that heredity may play a major role in behaviour is integral in the evolving field of behavioural genetics.  

Reference en.wikipedia.org/wiki/Eugenics  

left ventricular non-compaction 1 

CARDIOLOGY Left ventricular non-compaction 1 with or without congenital heart defects A condition (OMIM:604169) caused by arrested myocardial development and characterised by a hypertrophic left ventricle with deep trabeculations and poor systolic function, variably accompanied by left ventricular dilation and other congenital heart anomalies–e.g., ventricular septal defects, pulmonary artery stenosis, atrial septal defects and right ventricular defects.

Molecular pathology Defects of DTNA, which encodes a protein of the dystrophin protein complex, cause left ventricular non-compaction 1. 

References http://www.uniprot.org/uniprot/Q9Y4J8 

http://www.omim.org/entry/604169 

tummy tuck 

tummy_tuckCOSMETIC SURGERY Abdominoplasty A procedure in which a large horizontal ellipse or wedge of skin and fat is excised from the anterior lower abdomen, and an upper abdominal flap is stretched to the suprapubic incision and sewn in place; the umbilicus is exteriorised through an incision in the flap at the proper level

Raison d’etre Vanity, loose tissue after massive weight loss.

Cost $6500 to $8500

Number procedures 2012 107,000

Reference http://www.plasticsurgery.org/Documents/news-resources/statistics/2012-Plastic-Surgery-Statistics/Cosmetic-Procedure-Trends-2012.pdf 

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11 to 15 September 2014

15 September 2014 

arrhythmogenic right ventricular dysplasia—familial—type 8

CARDIOLOGY Arrhythmogenic right ventricular cardiomyopathy type 8 A congenital heart disorder (OMIM:607450) characterised by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Reference http://www.omim.org/entry/607450 

body cavity search 

body_cavity_searchPUBLIC HEALTH Cavity search A self-explanatory term for the visual or manual examination of body cavities–e.g., mouth and external genitalia by police or border agents for material which has not been formally declared–e.g., money, is illegal–e.g., illicit drugs, or not allowed in a particular context–e.g., a knife or gun.

The right of US officials to perform intrusive body cavity searches came directly from the US Supreme Court in Bell v. Wolfish, 441 U.S. 520 (1979), which established a standard of “reasonable grounds”, which includes security concerns and trafficking of illegal drugs. 

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

cardiomyopathy—dilated—with woolly hair and keratoderma 

DERMATOLOGY Carvajal syndrome, palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair An autosomal recessive cardiocutaneous syndrome (OMIM:605676)characterised by generalised striate keratoderma especially affecting the palmoplantar skin woolly hair, and dilated left ventricular cardiomyopathy. 

Reference http://www.omim.org/entry/605676

DSP 

CELL BIOLOGY, DERMATOLOGY Desmoplakin, PPKS2, DPI, desmoplakin (DPI, DPII), DPII, 250/210 kDa paraneoplastic pemphigus antigen, DP, desmoplakin I, KPPS2, desmoplakin II A gene on chromosome 6p24.3 that encodes desmoplakin, a high molecular weight protein and obligate component of functional desmosomes, which anchors intermediate filaments to desmosomal plaques. Its N-terminus is required for localisation to the desmosome and interacts with the N-terminal region of plakophilin 1 and plakoglobin. The C-terminus binds with intermediate filaments.

Molecular pathology Defects of DSP cause:

• Arrhythmogenic right ventricular dysplasia—familial—8 (OMIM:607450) (above) 

• Cardiomyopathy—dilated—with woolly hair and keratoderma (OMIM:605676) (above) 

• Keratoderma—palmoplantar—striate 2 (OMIM:612908) (below) 

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

http://www.uniprot.org/uniprot/P15924  

keratoderma—palmoplantar—striate 2

DERMATOLOGY Keratoderma—palmoplantar—striate form II, keratosis palmoplantaris striata II, striate palmoplantar keratoderma II A skin disorder (OMIM:612908) characterised by thickening of the skin on the palms (linear pattern) and soles (island-like pattern) and flexor aspect of the fingers, rarely accompanied by defects of nails, teeth and hair.

Molecular pathology Defects of DSP, which encodes desmoplakin, an obligate component of functional desmosomes, cause keratoderma—palmoplantar—striate 2. 

Reference http://www.omim.org/entry/612908

14 September 2014 

DST 

DERMATOLOGY Dystonin, BPAG1, DT, BP240, BPA, DMH, CATX-15, MACF2, bullous pemphigoid antigen 1, 230/240kDa, CATX15, KIAA0728, trabeculin-beta, bullous pemphigoid antigen 1, dystonia musculorum protein, BP230, hemidesmosomal plaque protein, bullous pemphigoid antigen A gene on chromosome 6p12.1 that encodes dystonin, a cytoskeletal linker protein which integrates intermediate filaments, actin and the microtubule cytoskeleton network, and required for anchoring either intermediate filaments to the actin cytoskeleton in neural and muscle cells or keratin-containing intermediate filaments to hemidesmosomes in epithelial cells. The proteins may self-aggregate to form filaments or a two-dimensional reticulum.

DST isoform 3 plays a structural role in assembling hemidesmosomes of epithelial cells; it anchors keratin-containing intermediate filaments to the inner plaque of hemidesmosomes and is required for regulating keratinocyte polarity and motility; it mediates integrin ITGB4 regulation of RAC1 activity. DST isoform 6 is required for bundling actin filaments around the nucleus; DST isoform 7 regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport.

Molecular pathology Defects of DST cause hereditary sensory and autonomic neuropathy type 6. 

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

http://www.uniprot.org/uniprot/Q03001 

glycogen rosette 

glycogen_rosettePATHOLOGY Alpha units   A garland-like cluster of granular specks of glycogen seen by electron microscopy in the cytoplasm of the liver in an array of malignancies, classically in Ewing sarcoma, but also in seminoma, rhabdomyosarcoma, yolk sac tumour, clear cell adenocarcinoma of the breast, endometriium ovary, vagina, salivary gland and kidney, clear cell sarcoma, sugar tumour of the lung, and occasionally in hepatic adenomas and hepatocellular carcinomas 

Reference Essentials of Anatomic Pathology, L Chang, D Bostwick, Springer, 2006  

HTC2  

GENETICS Hypertrichosis 2 (generalised—congenital), CGH, CXINSq27.1, HCG A genetic locus on chromosome Xq27.1 which is thought to contain a gene that causes or increases susceptibility to hypertrichosis 2 (generalised—congenital) (OMIM:307150). 

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTC2

partner notification 

partner_notificationPUBLIC HEALTH Any means of informing the sexual partner(s) of a person with an STD-sexually-transmitted disease, that the person being tested is infected by an organism–e.g., HIV, Neisseria gonorrhoeae, Treponema pallidum–of interest to public health officials.

Types of partner notification

• Patient referral Voluntary partner notification Patient notifies his/her sexual partner

In one study, 7% actually told their partner, I have a secret

• Provider referral Involuntary partner notification Doctor or carers notify partner

In the same study, 50% of partners were informed   

verbal autopsy 

EPIDEMIOLOGY, PATHOLOGY Verbal autopsy instrument An epidemiologic tool used to assess disease-specific mortality in countries with low autopsy rates, which is based on structured questionnaires filled out by family members after a person’s death.

The World Health Organisation published a revised shortened verbal autopsy questionnaire (called Release Candidate 1) in 2012, which is undergoing validation studies. Verbal autopsies can be inaccurate and could underreport deaths due to suicide, sexually-transmitted disease and, depending on who pulled the trigger, homicide. 

Reference http://www.who.int/healthinfo/statistics/verbalautopsystandards/en/deaths due to 

13 September 2014 

clearance

FDA Permission to do something–e.g., to sell a drug product, as in marketing clearance

OCCUPATIONAL MEDICINE The amount of physical space above a worker’s head

PHARMACOLOGY A measure of the elimination of a drug, therapeutic agent, or other substance from the body or other biologic system; clearance is expressed as a hypothetical volume that is completely removed in a given unit of time

PHARMACOKINETICS The product of the volume of distribution and the elimination rate constant; much of a drug’s elimination is via the kidneys and clearance is commonly expressed in mL/min or L/hr

PHYSIOLOGY

(1) The removal of a substance from the blood by metabolism or excretion

(2) Aquantitative measure of the item (1), above

VOX POPULI The amount of space between 2 closely related substances

HIP1

HIP1NEURO Huntingtin interacting protein 1, ILWEQ A gene (OMIM:601767) on chromosome 7q11.23 that encodes a membrane-associated protein which plays a role in clathrin-mediated endocytosis and intracellular protein. It is involved in regulating AMPA receptor trafficking in the CNS in an NMDA-dependent manner. It enhances androgen receptor-mediated transcription, may be proapoptotic, inducing cell death via  the intrinsic apoptosis pathway.

It binds 3-phosphoinositides and may act through the ENTH domain to promote cell survival by stabilising receptor tyrosine kinases following ligand-induced endocytosis. It may play a functional role in the cell filament networks and be required for differentiation, proliferation, and/or survival of somatic and germline stem cells.

Molecular pathology A defect of HIP1 occurs in a form of CMML–chronic myelomonocytic leukaemia (translocation t(5;7)(q33;q11.2) with PDGFRB). The HIP1 protein product normally binds to huntingtin in the brain, an interaction which is lost in Huntington’s disease

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=HIP1

http://www.uniprot.org/uniprot/O00291  

histiocytosis-lymphadenopathy plus syndrome 

HAEMATOLOGY Faisalabad histiocytosis, H syndrome, histiocytosis and lymphadenopathy with or without cutaneous—cardiac—and/or endocrine features—joint contractures—and/or deafness, histiocytosis with joint contractures and sensorineural deafness, hyperpigmentation—cutaneous—with hypertrichosis—hepatosplenomegaly—heart anomalies—and hypogonadism with or without hearing loss, pigmented hypertrichosis with insulin-dependent diabetes mellitus, Rosai-Dorfman disease—familial, sinus histiocytosis and massive lymphadenopathy A syndrome (OMIM:602782) characterised by the combination of features from 2 or more (of 4) histiocytic disorders, originally thought to be distinct:

Faisalabad histiocytosis Characterised by joint deformities, sensorineural hearing loss, and subsequent development of generalised lymphadenopathy and swellings in the eyelids that contain histiocytes

H syndrome Characterised by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss occurs in about half of patients.

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Characterised by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome.

Sinus histiocytosis with massive lymphadenopathy Characterised by lymph node enlargement in children often accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinaemia. 

Molecular pathology Defects of SLC29A3, which encodes a glycosylated protein that plays a role in cellular uptake of nucleosides, nucleobases, and their therapeutic analogues, cause histiocytosis-lymphadenopathy plus syndrome. 

References http://www.uniprot.org/uniprot/Q9BZD2

http://www.omim.org/entry/602782  

HTNB 

GENETICS A genetic locus on chromosome 2p12.2-p11.2 which is thought to contain a gene that causes or increases susceptibility to hypertension with brachydactyly (OMIM:112410). 

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

therapeutic magnet 

therapeutic_magnetQUACKERY A magnet which, per its purveyors, improves muscle strength, lifespan, blood flow, and vitality, can be used to prevent or manage cancer, fibromyalgia, low back pain and a plethora of other evil humours.

The claims of efficacy are inversely proportional to the amount of supporting/peer-reviewed data. Worldwide sales of magnets for treatment is estimated at over $5 billion annually. In the US, the market is about $500 million.

Reference http://www.webmd.com/vitamins-supplements/ingredientmono-1177-magnet%20therapy.aspx?activeingredientid=1177&activeingredientname=magnet%20therapy  

12 September 2014 

bile acid synthesis defect—congenital—1 

METABOLISM 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase deficiency A condition (OMIM:607765) characterised by a primary defect in bile synthesis leading to progressive liver disease.

Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.

Molecular pathology Defects of HSD3B7, which encodes a membrane-associated endoplasmic reticulum enzyme involved in the synthesis of bile acids from cholesterol, cause bile acid synthesis defect—congenital—1. 

References http://www.uniprot.org/uniprot/Q9H2F3

http://www.omim.org/entry/607765

criminally insane 

FORENSICS A temporary or permanent mental state in which the perpetrator of one or more criminal acts lacks the capacity to understand that the acts were unlawful.

Note: Mental health workers and the legal profession have struggled with definitions for the words insane and insanity. Insanity under the law was first examined by English high court in M’Naghten 1843 10 C & F 200, and revisited by many other courts. The author’s above composite definition is probably as good as any. 

Ref http://en.wikipedia.org/wiki/M’Naghten_rules

finger vein authentication 

finger_vein_scannerTECHNOLOGY A biometric method used to identify individuals, which is based on the unique pattern of veins below the surface of the fingertips.

Principle Near-infrared—IR rays generated from a bank of LEDs (light emitting diodes) penetrate the finger and are absorbed by the haemoglobin in the blood. Areas in which the IR rays are absorbed (i.e. veins) appear as dark shadows in an image taken by a CCD camera equipped in SecuaVeinAttestor(a technology developed by Hitachi). The image is then processed to construct a unique finger-vein pattern from the digital image. 

Reference http://www.hitachi-ics.co.jp/product/english/about_fv.htm 

HTGS

GENETICS A genetic locus on chromosome 15q11.2-q13.1 which is thought to contain a gene that causes or increases susceptibility to hypertriglyceridemia—familial (OMIM:145750). 

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

slow revolution 

SOCIAL MEDICINE A term used by Professor and social thinker Danny Dorling (Oxford) referring to the accelerating trend that the wealthiest 1% of the population is growing wealthier at the expense of the remaining 99%.

Dorling believes that this widening inequality has a corrosive effect on society and foments social division, but can be addressed by a slow revolution in which society views superwealth as a liability and a threat to national and global well-being. 

Ref http://www.versobooks.com/books/1714-inequality-and-the-1 

http://www.youtube.com/watch?v=BhFCRbrTTNg

11 September 2014 

911 

PUBLIC HEALTH A telephone number in the US that links the public to the police and mobile rescue units, to provide emergency triaging and care. 

911TERRORISM September 11, 2001 A cluster of four coordinated attacks by al-Qaeda, an Islamic terrorist group, on major targets in the US. 

Targets

(1) World Trade Center in New York, which fell after crashed into by American Airlines Flight 11 and United Airlines Flight 175 that had been hijacked and piloted by al-Qaeda operatives, respectively bringing down the North and South towers.  

(2) Pentagon–headquarters of the Department of Defense, was similarly crashed into by American Airlines Flight 77, leading to a partial collapse in its western side.

(3) Uncertain, either the White House (home of the US President), or Congress is thought to have been the intended but failed target of a fourth plane, United Airlines Flight 93, which crashed into a field near Shanksville, Pennsylvania, after its passengers tried to overcome the hijackers.

Lives lost Nearly 3,000, including 227 civilians and 19 terrorists in the airplanes, 343 firefighters and 72 police officers. 

Reference http://en.wikipedia.org/wiki/September_11_attacks 

histatin 

DENTISTRY, ENT Any of a number of salivary proteins which are major precursors of the enamel pellicle, a protective proteinaceous layer on tooth surfaces. In addition, histatins exhibit antibacterial and antifungal activities. His3-(20-43)-peptide (histatin-5) is effective against Candida albicans and C neoformans, and inhibits Lys-gingipain and Arg-gingipain (rgpB) from Porphyromonas gingivalis. His3-(20-43)-peptide is also a potent inhibitor of metalloproteinases MMP2 and MMP9. 

HTN3

DENTISTRY Histatin 3, HTN5, HIS2, histatin 5, basic histidine-rich protein, histatin-3, histidine-rich protein 3, HTN2 A gene (OMIM:142702) on chromosome 4q13 that encodes a member of the histatin family of small, histidine-rich salivary proteins, which exhibitnon-immune, anti-microbial activity in the mouth. 

References for both of the above entries http://www.genecards.org/cgi-bin/carddisp.pl?gene=HTN3

http://www.uniprot.org/uniprot/P1551

HYMAI

CELL BIOLOGY Hydatidiform mole associated and imprinted (non-protein coding) An RNA gene (OMIM:606546) on chromosome 6q24.2 that encodes a non-protein coding transcript, which exhibits differential DNA methylation between the 2 parental alleles at an adjacent CpG island, and is expressed only from the paternal allele.

Molecular pathology Defects of HYMAI have been linked to transient neonatal diabetes mellitus (OMIM:601410), a rare disease characterised by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion.  

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

WASH complex 

WASH_complexCELL BIOLOGY A protein complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules.

WASH complex proteins F-actin-capping protein subunits alpha and beta, WASH1, FAM21, KIAA1033, KIAA0196, CCDC53

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA0196

http://www.ebi.ac.uk/QuickGO/GTerm?id=GO:0071203#term=info 

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6 to 10 September 2014

10 September 2014 

endogamy  

SOCIAL MEDICINE The marriage of a person to another of his/her same social, economic, or cultural group–e.g. Amish, Ashkenazi Jews.  

exogamy  

exogamySOCIAL MEDICINE The marriage of a person outside of their social, economic, or cultural group. 

Here one partner is from Planet Earth, the other from Planet Zork  

HYT1 

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—1 A genetic locus on chromosome 17q which is thought to contain the gene that causes hypertension—essential—susceptibility to—1 (OMIM:603918). 

HYT2  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—2 A genetic locus on chromosome 15q which is thought to contain the gene that causes hypertension—essential—susceptibility to—2 (OMIM:604329).  

HYT3  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—3 A genetic locus on chromosome 2p25-p24 which is thought to contain the gene that causes hypertension—essential—susceptibility to—3 (OMIM:607329).  

HYT4  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—4 A genetic locus on chromosome 12p12.2-p12.1 which is thought to contain  the gene that causes hypertension—essential— susceptibility to—4 (OMIM:608742).  

HYT5  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—5 A genetic locus on chromosome 20q11-q13 which is thought to contain the gene that causes hypertension—essential— susceptibility to—5 (OMIM:610261).    

HYT6  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—6 A genetic locus on chromosome 5p13-q12 which is thought to contain the gene that causes hypertension—essential— susceptibility to—6 (OMIM:610262).  

HYT7  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—7 A genetic locus on chromosome 3p14.1-q12.3 which is thought to contain the gene that causes hypertension—essential— susceptibility to—7 (OMIM:610948)..  

HYT8  

CARDIOVASCULAR DISEASE Hypertension—essential—susceptibility to—8 A genetic locus on chromosome 18q21.2 which is thought to contain the  gene that causes hypertension—essential— susceptibility to—8 (OMIM:611014) .  

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT1

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT2

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT3

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT4

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT5 

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT6

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT7

http://www.genecards.org/cgi-bin/carddisp.pl?gene=HYT8

spastic paraplegia 8—autosomal dominant 

NEUROLOGY A form (OMIM:603563) of spastic paraplegia, a neurodegenerative disorder characterised by slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and severity of symptoms are quite variable.

Clinical findings Initial symptoms include loss of balance, weakness and stiffness of legs, muscle spasms, and toe dragging, variably accompanied by bladder symptoms–e.g., incontinence; the weakness and stiffness may spread elsewhere in the body.

Molecular pathology Defects of KIAA0196, which encodes strumpellin, a protein highly expressed in skeletal muscle, and a component of the WASH complex, which plays a role in inducing actin polymerisation and endosome sorting, cause spastic paraplegia 8—autosomal dominant. 

References http://www.uniprot.org/uniprot/Q12768

http://www.omim.org/entry/603563 

9 September 2014 

cornea plana 2 

OPHTHALMOLOGY An über rare autosomal recessive condition (OMIM:217300), characterised by flattening of the forward convex curvature of the cornea, leading to decreased refraction, reduced visual activity, extreme hyperopia (usually plus 10+ d), hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis (often at an early age). Whilst CNA2 has a worldwide distribution, it is more common in the Finns. 

Molecular pathology Defects of KERA, which encodes a keratan sulfate proteoglycan important in developing and maintaining corneal transparency and the corneal stromal matrix, cause cornea plana 2. 

Reference http://www.uniprot.org/uniprot/O60938

http://www.omim.org/entry/217300

drape 

drapeSURGERY

noun The sterilised cloths used to mark off an operative field

verb To cover an operative field with sterilised drapes before performing a surgical procedure. 

VOX POPULI Curtain.

Oscar Wilde, silver-tongued wit of Victorian England, has been misquoted as saying, Either those drapes go or I do, on his deathbed. More sources quote him as saying The wallpaper and I are fighting a duel to the death. One or the other of us has to go

drape time

SURGERY A term of art for the timeframe between when an anaesthetised patient is turned over to the surgical team and the first incision. 

Reference cat.inist.fr/?aModele=afficheN&cpsidt=2414252 

fructosuria—essential 

METABOLISM Essential fructosuria, hepatic fructokinase deficiency, ketohexokinase deficiency A benign, asymptomatic defect (OMIM:229800) of intermediary metabolism characterised by the intermittent appearance of fructose in the urine. Lab Ingestion of dietary fructose, sucrose, or sorbitol is followed by an abnormally large and persistent rise in blood fructose concentration and excretion of 10 to 20% of the ingested load in the urine.

Molecular pathology Defects of KHK, which encodes ketohexokinase, the enzyme that converts fructose to fructose-1-phosphate, cause fructosuria—essential.  

References http://www.uniprot.org/uniprot/P50053

http://www.omim.org/entry/229800 

Kahrizi syndrome 

NEUROLOGY Mental retardation—cataract—coloboma—and kyphosis—autosomal recessive An autosomal recessive neurodevelopmental disorder OMIM:612713 characterised by mental retardation, cataracts, coloboma, kyphosis, and coarse facies.

Molecular pathology Defects of SRD5A3, which encodes a steroid 5-alpha reductase that produces androgen 5-alpha-dihydrotestosterone—DHT from testosterone, and is required for synthesis of monosaccharides and the precursor used for N-linked glycosylation of proteins, cause Kahrizi syndrome. 

References http://www.uniprot.org/uniprot/Q9H8P0

http://www.omim.org/entry/612713  

keratolytic winter erythema  

DERMATOLOGY Oudtshoorn skin disease An autosomal dominant (OMIM:1483790) dermatosis traceable to certain 19th-century inhabitants of the province of Oudtshoorn, South Africa, with a striking exacerbation occurring during the cold weather, starting in March or April and continuing until August to October.

Clinical findings Intermittent and recurrent centrifugal peeling of skin with palmoplantar erythaema which in more severe cases, extends up the limbs to the buttocks and trunk. In most patients the inconvenience is moderate, but in some it is incapacitating.

Affected ages The age of onset varies from infancy to early adulthood, with a tendency to subside in intensity after age 30.

Molecular pathology The genetic locus for KWE is thought to lie on chromosome 8p23-p22. 

Reference http://www.omim.org/entry/148370

8 September 2014 

CELLWAVE

CARDIOLOGY A clinical trial that asked whether adding extracorporeal shock wave treatment to intracoronary administration of autologous bone marrow-derived mononuclear cells* (BMCs) would improve homing of BMCs to damaged target tissue.

Conclusion Yes. In patients with post-infarction chronic heart failure, shock wave facilitated intracoronary administration of BMCs resulted in a modest, but statistically significant improvement of LVEF–left ventricular ejection fraction, compared to shock wave treatment alone.

*Which has been shown to improve cardiac functional recovery in patients who had an acute myocardial infarction in a background of end-stage heart failure. 

Reference JAMA 2013;309(15):1622-1631 

contribution margin 

MEDICAL BUSINESS A metric for reporting financial outcomes in medicine, which is calculated as revenues minus variable costs (the cost of items directly used in a patient’s care–e.g., drugs, tests, food and direct care provided by hospital staff.  

Reference JAMA 2013; 309 (15):1634-4

KLHDC8B

CELL BIOLOGY Kelch domain containing protein 8B A gene (OMIM:613169) on chromosome 3p21.31 that encodes a protein which forms a distinct beta-propeller protein structure of kelch domains, allowing for protein-protein interactions.

Molecular pathology Defects of KLHDC8B have been linked to classic and nodular sclerosis Hodgkin lymphoma. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLHDC8B

http://www.uniprot.org/uniprot/Q8IXV7 

palivizumab 

IMMUNOLOGY, VIROLOGY MEDI-493, Synagis® A humanised monoclonal antibody (IgG) used as prophylaxis against respiratory syncytical virus (RSV) infection in premature infants, especially in those with chronic lung disease and congenital heart malformations.

Adverse effects Fever, pneumonia, injection site reactions 

References http://en.wikipedia.org/wiki/Palivizumab

pedsccm.wustl.edu/All-Net/english/pharmpage/resp/Palivizumab.html 

psychological warfare 

psychological_warfareMILITARY, PSYCHOLOGY Hearts and minds, political warfare, propaganda, PSYWAR A generic term for a psychological weapon used to reduce the resistance of an enemy force and the civilian population it is meant to defend, by influencing their values, beliefs, reasoning, and ultimately, behaviour and response to the originator of the propaganda (i.e., their enemy).

Examples of psychological warfare

• Assimilation  Alexander the Great held on to his territorial gains by co-opting local elites into Greek administration and culture and paying soldiers to marry and breed with local women

• Brainwashing  Enlisting literati Arthur Conan Doyle, Thomas Hardy, Rudyard Kipling, H. G. Wells, to write tracts favouring the originator’s agenda, to be distributed as aerial leaflets (World War I). 

• Terror  Tamerlane, a Mongolian chieftain who took cues from Genghis Khan, built a pyramid of 90,000 human heads in front of the walls of Delhi

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

7 September 2014 

KLF11 

CELL BIOLOGY Kruppel-like factor 11, TGFB-inducible early growth response protein 2, FKLF, FKLF1, TIEG2, TGFB inducible early growth response 2, Tieg3, transforming growth factor-beta-inducible early growth response protein 2, Krueppel-like factor 11 A gene (OMIM:603301) on chromosome 2p25 that encodes a zinc finger transcription factor that binds SP1-like sequences in epsilon- and gamma-globin gene promoters, inhibiting cell growth and causing apoptosis.

Molecular pathology Defects of KLF11 cause maturity-onset diabetes of the young–type 7 (OMIM:610508). 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=KLF11

http://www.uniprot.org/uniprot/O14901 

KRIT1 

EMBRYOLOGY KRIT1—ankyrin repeat containing, Krev Interaction Trapped 1, CCM1, cerebral cavernous malformations 1, CAM, ankyrin repeat containing protein Krit1, cerebral cavernous malformations 1 protein, rev Interaction trapped protein 1 A gene (OMIM:604214) on chromosome 7q21.2 that encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a key role in beta1-integrin-mediated cell proliferation. It is required for endothelial integrity and is a crucial regulator of heart and vessel formation and integrity, downregulating angiogenesis by inhibiting endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells.  It is also a microtubule-associated protein and may play a role in microtubule targeting.

Molecular pathology Defects of KRIT1 cause cerebral cavernous malformations type 1. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=KRIT1

http://www.uniprot.org/uniprot/O00522

malariologist 

TROPICAL MEDICINE A pretty self-explanatory term for a person who studies or manages one or more aspects of malaria. 

malariology 

An equally self-explanatory term for the formal study of malaria. 

Reference http://www.merriam-webster.com/medical/malariologist

Plasmodium yoelii

plasmodium_yoeliiMICROBIOLOGY A Plasmodium species* belonging to the subgenus Vinckeia, which has both insect and mammalian hosts (its usual host is the rodent Thamnonys rutilans). It is of interest to malariologists as a whole-animal model (mice) of malaria, especially the immune response thereto.

*Subspecies: P yoelii killicki, P yoelii nigeriensis and P yoelii yoelli.

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

postreperfusion syndrome

TRANPLANTATION MEDICINE A condition characterised by severe haemodynamic compromise, arrhythmia, or asystole which immediately follows reperfusion of a transplanted liver. It correlates with post-operative renal dysfunction and is associated with increased intraoperative and postoperative mortality.

Diagnostic criteria Decreased mean BP > 30% below baseline for ≥ 1 minute during the first 5 minutes of liver reperfusion.

Incidence The syndrome occurs in 60% of transplanted livers, and even more in livers with prolonged cold ischaemia time and patients with left ventricular diastolic dysfunction.

Pathogenesis Uncertain, possibly due to:

• Metabolic products from the ischaemic liver graft including vasoactive substances such as IL-6, TNF-alpha, K+ and H+ ions, and possibly emboli released into the recipient’s bloodstream and distributed systemically.

• Graft-preservation solutions–e.g., University of Wisconsin solution, which has a high K+ content, causing electrolyte disturbances during reperfusion.

Management

• Pretreat with antihistamines (ranitidine, diphenhydramine) in the 15 minutes before reperfusion

• Close haemodynamic monitoring at time of graft outflow unclamping. 

• Volume resuscitation and vasopressors (phenylephrine, norepinephrine, vasopressin, and epinephrine) to address hypotension.

• Methylene blue if refractory to vasopressors (results with prophylactic dosing has shown mixed results).

• Treat electrolyte abnormalities (hypocalcemia, hyperkalemia, etc).

References http://www.openanesthesia.org/Postreperfusion_syndrome

J Cardiothoracic & Vascular Anesthesia. 2013; 27(4): 809-815.  

Pregnanzilla 

pregnanzillaOBSTETRICS A potentially useful portmanteau of pregnant and -zilla beshat by the blogosphere onto the real world, referring to otherwise demure women who, in late pregnancy, acquire the brute force and mindless wrath of Godzilla, the King of the Monsters in Ishirō Honda’s 1954 same-named film.

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

http://www.urbandictionary.com/define.php?term=pregnantzilla

6 September 2014 

arterial resistivity index 

PHYSIOLOGY, VASCULAR DISEASE Pourcelot Index, resistance index A measure of pulsing blood flow that reflects the intrinsic resistance to blood flow by the microvascular bed distal to the site of measurement.

Used to Assess the umbilical artery in placental insufficiency

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

ether-à-go-go related gene potassium channel 

ether-à-go-goCARDIOLOGY, PHYSIOLOGY A potassium channel encoded by KCNH2* that plays a critical role in cardiac action potential repolarisation, mutations of which reduce hERG conductance, and surface expression cause congenital long QT syndrome–LQTS. Acquired LQTS results when the channel is inhibited by various small molecules, many of which are non-cardiac drugs–e.g., astemizole, cisapride, droperidol, grepafloxacin, and terfenadine, which were withdrawn from the market for this reason. Small molecules that increase hERG current (hERG activators) may be of value in treating  LQTS. Candidate hERG activators include mallotoxin–an extract of the tree Mallotus phillippinensis and a number of synthetic compounds.

*Formerly known as HERG (human Ether-à-go-go-Related Gene

References Acta Pharmacologica Sinica (2011) 32: 781–788;

doi: 10.1038/aps.2011.70; published online 30 May 2011

en.wikipedia.org/wiki/HERG

http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNH2

KL 

CELL BIOLOGY Klotho, KLOTHO, EC 3.2.1.31, EC 3.2.1 A gene (OMIM:604824) on chromosome 13q12 that encodes a type-I membrane protein that is related to beta-glucosidases. Its production is reduced in degenerative processes–e.g., arteriosclerosis, osteoporosis, and skin atrophy, seen in chronic renal failure. Klotho peptide may act as an anti-ageing hormone that would extend life span by inhibiting insulin/IGF1 signalling.

Molecular pathology Defects of KL are associated with ageing and bone loss. 

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

http://www.uniprot.org/uniprot/Q9UEF7

paravalvular leak 

CARDIOLOGY, SURGERY A self-explanatory term for a relatively common complication of transcatheter aortic valve replacement (TAVR), which occurs in up to 24% of TAVRs.

Predictors of PVL

• Incomplete apposition of the valve to the native annulus due to patterns or extent of calcification of the annulus

• Undersizing of the prosthetic valve

• Malposition of the valve

Prognosis With time, 31% of paravalvular leaks improve, 46% remain stable and 22% worsen; mortality is doubled in those with any PVL, even mild, when compared to TAVRs without post-procedural PVL

Reference J Am Coll Cardio 2013; 61:1125-1136

doi:10.1016/j.jacc.2012.08.1039

polyomavirus nephropathy 

polyomavirus_nephropathy_decoyTRANSPLANT MEDICINE BK virus-induced nephropathy, polyomavirus-associated nephropathy, polyomavirus-induced nephropathy A relatively common–up to 10%–complication of kidney transplantation; allograft failure occurs in 15% to 50% of those infected.

Diagnosis High index of suspicion; it is first detected in urine (decoy cells–image), then plasma, then in the kidney itself by biopsy (minimum of 2 cores of medullary tissue)

Pathology Tubulointerstitial nephritis, divided into three main patterns

• A  Few cytopathic changes, minimal inflammation, tubular atrophy and fibrosis

• B  More cytopathic changes, inflammation, tubular atrophy and fibrosis, subdivided into B1, B2 and B3 for 10%, 25% and 50% injury

• C End-stage disease Prominent fibrosis, chronic inflammation, and few polyomavirus-staining cells

Management Immunosuppression reduction*; cidofovir, experimentally, with the caveat that cidofovir is nephrotoxic; leflunomide, immunoglobulins, fluoroquinolones; re-transplantation as needed

*which carries an increased risk of graft rejection 

References Am J Kidney Dis 2009; 54:131-142

Prog Transplant. 2004 Jun;14(2):130-40  

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