21 to 25 MAY 2015

25 May 2015

blood colour analyser 

LABORATORY MEDICINE

A self-explanatory term for an obsolete device used to assess the colour of blood. I’ve been in lab medicine for over three decades and not seen one in practice.

A modern translation of this device might be spectrophotometry of serum…to quantify haemolysis.  

ELMO1

elmoCELL BIOLOGY

Engulfment and cell motility 1, CED12, engulfment and cell motility protein 1

The gene on chromosome 7p14.1 that encodes an engulfment and cell motility protein which interacts with dedicator of cytokinesis–DOCK proteins to promote phagocytosis and cell migration. It is involved in the cytoskeletal rearrangements required for phagocytosis of apoptotic cells, cell motility, and acts as a complex with DOCK1 to activate Rac Rho small GTPases. 

Molecular pathology Increased expression of ELMO1 and DOCK1 may increase glioma cell invasion. Single nucleotide polymorphisms of ELMO1 may be associated with diabetic nephropathy.

Reference www.genecards.org/cgi-bin/carddisp.pl?gene=ELMO1 

http://www.uniprot.org/uniprot/Q92556

jail diversion 

PSYCHIATRY, SOCIAL MEDICINE

A general term for those social programs which divert individuals with serious mental illness (and often co-occurring substance use disorders) away from jail and provide links to community-based treatment and support services. The individual thus avoids arrest or spends a significantly reduced time period in jail and/or lockups on the current charge or on violations of probation resulting from previous charges. 

Reference www.gainscentre.samhsa.gov/html/jail_diversion/what_is_jd.asp 

named reporting 

PUBLIC HEALTH

A self-explanatory term for the reporting of a person by name to public health authorities when that person is infected by certain pathogens. Named reporting is a standard practice for surveillance of certain infectious diseases–tuberculosis, syphilis, gonorrhoea*, which pose a public health threat.

But not of a person’s HIV status, in large part because of the social stigma attached to HIV-1 positivity. 

specialoid 

MEDSPEAK–UK

A popular UK term for a GP–general practitioner with a specialty interest and/or skill–e.g., dermatology, gynaecology, geriatrics–who may have earned a diploma in the area of interest, but is not per se a specialist (consultant) or fellow of the Royal College of that particular specialty. 

Reference MedspeakUK Mental Health Review Journal 2000; 5:6-13

MEDSPEAK–US

A popular term for a doctor trained in a specialty for which there are too many specialists for the number of patients with the special problems or diseases for which the specialty was created. As here defined, specialoids often become deskilled, because they spend their professional time treating non-referral (non-specialty) cases. 

Reference Medspeak-US NEJM 1993; 328:940, ref 6 

Yup, two countries separated by a common language…

24 May 2015

apperceptive prosopagnosia

NEUROLOGY

A form of prosopagnosia (face blindness)* attributed to underdevelopment of the face recognition system in the right occipital temporal region. Those with apperceptive prosopagnosia cannot differentiate between same and different faces, but can recognise people based on non-facial clues–e.g., clothing, hairstyle or voice. 

*A condition characterised by an impaired ability to recognise faces, with other aspects of visual processing–e.g., object discrimination and cognition–e.g., decision making, remaining intact. 

associative prosopagnosia

NEUROLOGY

A form of prosopagnosia attributed to underdeveloped face recognition, where perception is spared, but the links between early face perception and one’s semantic information about person X or Y is buggered. Right anterior temporal regions may play a critical role in associative prosopagnosia.

Those with associative prosopagnosia may be able to differentiate between people’s faces (same–different) and guess age and sex from a face–i.e., they can process some facial information, but may not be able to later identify the person in a picture or provide any information about them such as their name, occupation, or when they were last seen.

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

eye of the tiger sign EyeTiger

IMAGING, NEUROLOGY

A sign seen on T2-weighted MRI, in which there is a very low signal intensity in the globus pallidus due to an excess accumulation of iron, surrounding a central region of high signal intensity attributed to gliosis, increased water content, and neuronal loss with disintegration, vacuolisation, and cavitation of the neuropil (roll your mouse over the image to see the MRI). 

First described in Hallervorden-Spatz syndrome (OMIM:234200, now termed by cognoscenti as neurodegeneration with brain iron accumulation, given Hallervorden’s link to the Nazi atrocities), the sign has also been reported in other extrapyramidal parkinsonian disorders: cortical–basal ganglionic degeneration, early-onset levodopa-responsive parkinsonism, and Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). 

References Radiology 2000 217: 895-896

www.radswiki.net/main/index.php?title=Eye_of_the_tiger_sign

temporary bed 

MEDSPEAK–UK

A term of art for a bed in an NHS hospital trust which is placed in a ward in addition to the ward’s legally allowed and staffed bed complement.

Such beds are used at times of overcrowding and are usually located near the specialty ward to which the patient would have been admitted had a “legal bed” been available. 

Reference www.datadictionaryadmin.scot.nhs.uk/isddd/1856.html

vitreoretinopathy—exudative type 1

OPHTHALMOLOGY

Criswick-Shepens syndrome, exudative vitreoretinopathy—familial—autosomal dominant, familial exudative vitreoretinopathy, familial exudative vitreoretinopathy—autosomal dominant

An autosomal dominant disorder OMIM:133780 of retinal vasculature characterised by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. The loss of peripheral vessels causes ischaemia, triggering compensatory retinal neovascularization. The new vessels are prone to leakage and rupture, causing exudates and bleeding, followed by scarring, retinal detachment and blindness.

Clinical findings Highly variable, even within the same family. Patients with mild disease are asymptomatic, and only identified by an arc of avascular retina in the extreme temporal periphery. It resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.

Molecular pathology Defects of FZD4, which encodes a member of the frizzled family of Wnt protein receptors, cause exudative vitreoretinopathy type 1.  

References http://www.uniprot.org/uniprot/Q9ULV1

http://www.omim.org/entry/133780

23 May 2015

Neanderthal 

neanderthalPALEOANTHROPOLOGY

Homo neanderthalensis, Homo sapiens neanderthalensis, Neandertal, Neanderthal Man

An extinct pre-human Homo  who lived between 230,000 and 22,000 years ago (the last known Neanderthals lived in the Gravettian region of France). They primarily lived in cold climates; their body proportions are similar to those of modern cold-adapted peoples: short and solid, with short limbs. Men averaged ±168 cm; their bones were thick and heavy, and showed signs of powerful muscle attachments. 

Neanderthals would have been strong by modern standards; their skeletons show that they endured brutally hard lives. Once thought stupid, they made symbolic objects, adorned their bodies, and may have played musical instruments. Neanderthal tools and weapons are regarded as more advanced than the tools of Homo erectus. They were hunters, and the first Homo spp known to have buried their dead–the oldest known burial site is ±100,000 years old. Neanderthal skeletons are found throughout Europe and the Middle East. Recent data suggest that the Homo sapiens and neandertals coexisted but did not interbreed. Neanderthal lifestyles differed from that of humans; they used weapons differently, and fought at closer range; while the human was a migrating species, Mr Neanderthal was a homebody, staying for prolonged periods in the same site, depleting the food supply, possibly leading to his demise. The “classic” western European Neanderthals were more robust than those found elsewhere. The average brain size is larger than that of modern humans, about 1450 cc, but this correlated with their greater bulk; the cranial cavity is longer and lower than that of modern humans, with a marked bulge at the back. Like Homo erectus, Neanderthals had a protruding jaw and receding forehead. The chin was weak; the midfacial area also protrudes, a feature not found in Homo erectus or Homo sapiens and may have been an adaptation to cold. Other minor anatomic differences from modern humans include peculiarities of the shoulder blade, and pubic bone. 

Neanderthals were named for the site in the Neander Valley, near Düsseldorf, where their bones were first discovered; their skeleton and teeth were less robust than Homo erectus, but more robust than modern humans–Homo sapiens sapiens; many had large brow ridges and receding foreheads and chins; there is no clear dividing line between late Homo erectus and archaic Homo sapiens; many fossils between 500,000 and 200,000 years ago are difficult to classify as one or the other.   

Reference en.wikipedia.org/wiki/Neanderthal

patient turnaway 

MEDSPEAK–UK Turnaway

An NHS (UK) term of art for the inability to provide a needed inpatient service due to the lack of a hospital bed. Queuing for beds results in cancelled operations, placing of medical patients in surgical beds, missed waiting time targets, and the sceptre of organisational chaos, with increased hospital errors, cross-infection and patient death. 

R Jones, author of a paper to the effect in the 2011 British J of Healthcare Management compellingly argued that the Stafford Hospital scandal was linked to the unrecognised role of excessive whole hospital occupancy. Whereas major hospitals in the USA and European have a 77-78% national average bed occupancy rate, the UK average is 87%, a rate which results in patient turnaway. 

Reference Jones R (2011) Hospital bed occupancy demystified. Brit J Healthcare Man 17(6): 242-248

www.hcaf.biz/2011/Hospital_occupancy.pdf

PRDX6 

CELL BIOLOGY

Peroxiredoxin 6, non-selenium glutathione peroxidase, AOP2, NSGPx, PRX, EC 1.11.1.15, P29, acidic calcium-independent phospholipase A2, EC 1.11.1.9, antioxidant protein 2,  EC 3.1.1.-3

The gene on chromosome 1q24.1 that encodes 6, a member of the thiol-specific antioxidant protein family, which is involved in intracellular redox regulation. It reduces H2O2 an short chain organic, fatty acid, and phospholipid hydroperoxides, and may play a role in regulating phospholipid turnover as well as in protecting the cell against oxidative injury. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PRDX6

http://www.uniprot.org/uniprot/P30041

spinocerebellar ataxia type 1

NEUROLOGY

Cerebelloparenchymal disorder type I, CPD1, CPDI, Menzel syndrome, Menzel type OPCA, olivopontocerebellar atrophy—Menzel type, olivopontocerebellar atrophy—Schut-Haymaker type, olivopontocerebellar atrophy type 1, olivopontocerebellar atrophy type IV, OPCA 1, OPCA 4, OPCA I, OPCA IV,  Schut Haymaker syndrome, spinocerebellar atrophy type I 

An autosomal dominant condition OMIM:164400, which is characterised by cerebellar ataxia, as well as optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia.  

Molecular pathology Expansion of a CAG repeat in the coding region of ATXN1, a gene which encodes ataxin 1, a chromatin-binding factor, cause spinocerebellar ataxia type 1.

References http://www.uniprot.org/uniprot/P54253

http://www.omim.org/entry/164400

Stafford Hospital scandal 

Stafford_HospitalMEDSPEAK–UK

Mid Staffordshire Inquiry, Mid Staffordshire scandal

A scandal which began when the UK’s Healthcare Commission began an investigation into the apparently–later confirmed–high mortality rates of patients admitted to Stafford General Hospital’s A&E (casualty) department. As it turned out, the mortality rate was just the tip of the iceberg of the mess at Stafford Hospital. 

The Mid Staffordshire Foundation trust (Foundation trusts hospitals are meant to be the best hospitals in the UK), which runs Stafford General, conducted an internal investigation and, quelle surprise, found “Ain’t no problems here, Boss”. Unconvinced, the Commission launched a full scale investigation, and uncovered a litany of serious problems at Stafford, where patients weren’t properly nursed due to deliberate understaffing (to save the almighty dollar), were left lying in soiled sheets, crying in pain, frightened, and so thirsty that they drank water from flower vases. The Commission concluded patient welfare was sacrificed to meet a financial target of saving £10 million, which the Board decided could only be achieved by reducing staffing levels, which were already insufficient. The Health Service was so angry with the incompetent executives at Stafford…that they promoted them, most notably, Cynthia Bower, who later helmed the (!!!) Care Quality Commission–CQC. Fittingly, La Bower took office on 1 April, 2009. But before you go thinking she slept her way to the top, see www.bbc.co.uk/news/world-us-canada-14954478…

God bless her…sooooo, I’m going with the Peter principle, because Boss Bower’s CQC was making the news less than two years later, having ignored warnings by a whistle blower about the shocking systematic abuse of vulnerable adults at a residential hospital in Bristol…the Secretary of State for Health job might be opening up soon…

References en.wikipedia.org/wiki/Stafford_Hospital_scandalen.wikipedia.org/wiki/Care_Quality_Commission

www.midstaffsinquiry.com/pressrelease.html

www.independent.co.uk/news/uk/home-news/care-home-fears-raised-months-ago-2292121.html

22 May 2015

clinical vignette

MEDSPEAK

Case report, vignette

A report of one or more clinical cases that illustrates a new disease entity, or a prominent or unusual clinical feature of an established disease. Clinical vignettes generally include a summary of pertinent patient history, physical findings, imaging studies, laboratory data, and details about management. 

Reference http://www.acponline.org/about_acp/chapters/va/abstractrules.pdf

Erlenmeyer flask appearanceerlenmeyerflask

GASTROENTEROLOGY, PATHOLOGY

Erlenmeyer flask change

A descriptive term for a lesion seen in patients with fulminant Entamoeba histolytica-induced amebiasis. Gross examination reveals mucosal ulcers, cross sectioning through which demonstrate, by low-power light microscopy, typical lesions with a narrow neck and a broad ulcerated base that have been fancifully likened to an Erlenmeyer flask. The extensive submucosal lesions may be covered by relatively intact mucosa. 

PCDHB2 

CELL BIOLOGY

Protocadherin beta 2, PCDH beta-2

The gene on chromosome 5q31 that encodes a calcium-dependent cell-adhesion protein of the protocadherin beta gene cluster—one of 3 related gene clusters tandemly linked on chromosome 5. It is an integral plasma membrane protein, has a genomic organisation similar to that of B-cell and T-cell receptor gene clusters, and may play a role in establishing and maintaining specific neuronal connections in the brain. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCDHB2

http://www.uniprot.org/uniprot/Q9Y5E7

toss up 

DRUG SLANG

A regional term for a woman who trades sex for crack or money to buy crack

MEDICAL ETHICS A medical decision in which the difference between the outcomes from following one strategy–e.g., screening, or treating or  another–not screening, or not treating is negligible and the caring physician is faced with a heads you win, tails you lose-type decision, popularly termed a “tossup” 

Reference NEJM 1997; 337:639

VOX POPULI American slang used as a

noun Vomitus, puke, or as a

verb To vomit, to puke

ViaSpan® 

NEPHROLOGY, TRANSPLANT MEDICINE

A proprietary formulation of UW (University of Wisconsin) solution, the gold standard solution for preserving transplantation-bound organs. It is used to optimise the viability of tissues–e.g., kidneys, liver, pancreas, small bowel from the time of procurement to transplantation

Composition Adenosine, allopurinol, glutathione, HES-hydroxyethyl starch, magnesium sulphate, potassium lactobionate, potassium phosphate, raffinose

Physiologic considerations of Viaspan

• Maintain osmotic balance

• Prevent oedema–using HES–hydroxyethyl starch

• Prevent accumulation of free radicals–with free radical scavengers

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

21 May 2015

CALR 

CELL BIOLOGY HACBP, SSA, Grp60, CRT, RO, Calregulin, sicca syndrome antigen A (autoantigen Ro; calreticulin), endoplasmic reticulum resident protein 60, CRTC3CRP55, ERp60 A gene on chromosome 19p13.3-p13.2 that encodes calreticulin, a key multifunctional protein which acts as a major Ca2+-binding (storage) protein in the endoplasmic reticulum–ER. It also acts as a calcium-binding chaperone, promoting folding, oligomeric assembly and quality control in the ER via the calreticulin/calnexin cycle. In the nucleus, it regulates gene transcription by nuclear hormone receptors: the amino terminus of calreticulin interacts with the DNA-binding domain of the glucocorticoid receptor, preventing the latter from binding to its cognate glucocorticoid response element. Calretinin can inhibit androgen receptor binding to its hormone-responsive DNA element, inhibiting androgen receptor and retinoic acid receptor transcription, as well as retinoic acid-induced neuronal differentiation. It is also involved in  regulating maternal gene expression, and may participate in oocyte maturation by regulating calcium homeostasis. 

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

http://www.uniprot.org/uniprot/P27797

complex post-traumatic stress disorder 

PSYCHIATRY

A mental state induced by prolonged psychosocial trauma coupled with disempowerment and an inability to escape one’s situation. While C-PTSD is similar to PTSD, the latter doesn’t account for all of the symptoms of C-PTSD and lacks C-PTSD’s inescapability and helplessness. Examples Sexual abuse (especially of children), physical abuse, emotional abuse, domestic violence or torture.

C-PTSD had been proposed as an entity a sui generis to be included in American Psychiatric Association’s DSM 5–Diagnostic and Statistical Manual of Mental Disorders, 5th edition, but was not added. 

Reference en.wikipedia.org/wiki/Complex_post-traumatic_stress_disorder  

cremation form 

cremation_form_UKMEDSPEAK–UK, PUBLIC HEALTH Crem form Any of the multiple forms which are required by UK law to carry out the cremation of a deceased registered at the Office National Statistics. 

In Scotland, cremation also requires a Certificate of Registration of Death–BD8, which is issued by the Registrar of Births and Deaths. In addition to Form A (Application for Cremation, and Medical Forms B and C), another crematorium certificate is required, which is signed by the medical referee at the crematorium  Once the death occurs, a Form 11 is issued. The registrar keeps this document and issues a Form 14, a Form BD8 and any number of extracts the family require. The family arrange the funeral and complete a Form A. The deceased’s doctors sign Forms B and C. The crematorium requires Forms 14, A, B and C. In the working medical parlance, “crem forms” refer to those forms (Medical Form B–filled out by the doctor who attended the deceased before death and Medical Form C–filled out by the doctor who confirmed the cause of death) which are filled out by doctors, for which each doctor is paid £79. Form A–Application for Cremation must be completed by the next of kin or executor, and must be countersigned by a householder who knows the person completing the form. A fourth document, Notice of Cremation, gives notice of the cremation, details of the deceased and information about the service, and is a binding contract concerning the payment of fees to the cremation authority. For cremation in Scotland, the certificate of registration of death, issued by the registrar must be provided. In addition to the Application for Cremation and two cremation certificates signed by two doctors as above, a third crematorium certificate is required, signed by the medical referee at the crematorium.

Reference www.ifishoulddie.co.uk/cremation-c45.htmlwww.saif.org.uk/website/public/aboutfunerals/s_documentation.htmlwww.bereavementinfo.com/howadeath.asp  

demographic trend 

EVIDENCE-BASED MEDICINE, PUBLIC HEALTH

A popular term for any measurable change in the characteristics of a population over time–e.g., increased or decreased concentration of a particular racial or ethnic group, age bracket, sex ratio, etc. 

References www.cpa.org.uk/sap/glossary

http://jcedf.org/wp-content/uploads/2012/10/demtrend.pdf 

quadriceps fat pad impingement

quadriceps_fat_pad_impingementQuadriceps fat pad (arrow) is hyperintense on the sagittal T2 fat sat image (A) and hypointense on sagittal T1 image (B) Bas A, et al. BMJ Case Reports 2012. doi:10.1136/bcr-2012-007643

IMAGING, ORTHOPAEDICS

Fat pad impingement, fat pad syndrome, Hoffa’s disease, Hoffa’s syndrome, solitary lipoma of the knee, suprapatellar fat pad syndrome

An inflammatory process of the anterior suprapatellar fat, seen on MRI as high T2 signal, low T1 signal and a mass effect on the quadriceps tendon. It is characterised by a proliferation of fat, and may follow mild trauma to the anterior knee, especially if the fat pad is large, and is compressed between the tibia and femur when the bent knee is extended suddenly. It is commonly accompanied by quadriceps laxity. Hoffa’s test elicits a positive Hoffa sign.

Average age 38 years

Clinical findings Pain at the anterior knee, effusion and signs suggestive of ligament instability

Reference http://casereports.bmj.com/content/2012/bcr-2012-007643.full.pdf

 

Introduction

This is the first completely new medical dictionary to come to the market since 1940*. 

*The Tabers Medical Dictionary

It is the ONLY medical dictionary written entirely by a medical doctor and board-certified specialist. 

It is the first such work deployed as a database*.

*Databases allow users instant access to the information contained in the dataset. It is virtually impossible to access targeted information from the electronic versions of the venerated  (Dorland’s Medical Dictionary, Stedman’s Medical Dictionary and Taber’s Medical Dictionary), precisely because they’re text-based. To access information from text-based information, a computer has the daunting task of sifting through ALL the information in the data set, a problem that doesn’t occur with relational database searches.

In reviewing the electronic version of the Dorland’s Medical Dictionary on amazon.com, on January 4, 2015, dominique johnson said, Massive amount of data without proper indexing, I thought that having it in Kindle would allow me to just type in a term in the “find” field and let the device find the entry, but that takes way longer than when i open the physical copy myself.

The Concise Dictionary of Medicine and a handful of other text-based eBooks I’ve written over the last few decades have this same indexing issue. Whilst they are 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, database apps are the future of medical lexicography and as I go online with the database version of each, I expect to retire the eBook version.

I began collecting new medical terms as a hobby in 1984 during my residency in pathology at LIJ, now part of the massive North Shore-LIJ Health System on Long Island, 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:

New Medical Dictionary

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

I went live with this website in May, 2012 and blog about 5 terms/day, which derive from a growing database that now has 183,213 entries*

*The Dorland’s 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 terms I’ve blogged fall into one of 3 general categories:

• Popular terms–e.g., champagne bottle leg, Michael Jackson syndrome(s), Mickey Mouse sign(s), 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 found on this website.*

*To improve the user experience, and for search engine optimisation, parts of modernmedicaldictionary.com are under construction. I’m not going through this daunting task alone and have enlisted the help of a database guru and webmaster, Kent Hummel. I expect to be fully back up and running by the end of June—an ambitious target, to say the least.

During this transition period, the viewer will see a growing pool of reworked material as separate pages (one entry per page) and a shrinking pool of 25-entry blocks of material. The reworked entries will pop right up when you type the term in the search bar located at the top right corner of this website.

I plan to offer this growing pool of blogged terms as an annual subscription, updated monthly.

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.

•  Entry name bailout

•  Area of interest SURGERY

•  Definition The immediate closure…

•  Synonyms Bailout procedure, damage control surgery 

Reference http://omim.org/entry/605462

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).

 

May 16 to 20 2015

20 May 2015

CRTC2

CELL BIOLOGY CREB–regulated transcription coactivator 2, transducer of regulated CAMP response element-binding protein (CREB) 2, TORC2, transducer of CREB protein 2, CREB-regulated transcription coactivator 2 A gene on chromosome 1q21.3 that encodes a member of the transducers of regulated cAMP response element-binding (CREB) protein activity family of transcription coactivators. The CREB family up-regulates transcription of genes targeted by CREB protein, thus playing a major role in many cellular processes. CRTC2 regulates gluconeogenesis as a component of the LKB1/AMPK/TORC2 signaling pathway. It also regulates the expression of specific genes–e.g., steroidogenic gene, StAR. It may be a coactivator of PPARGC1A and induce mitochondrial biogenesis in muscle cells. It is also a coactivator for TAX activation of the human T-cell leukemia virus type 1—HTLV-1 long terminal repeats. It is highly expressed in the thymus.

Molecular pathology Defects of CRTC2  increase the risk of type 2 diabetes. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTC2

http://www.uniprot.org/uniprot/Q53ET0

crisis and home treatment team 

MEDSPEAK–UK, PSYCHIATRY

A self-explanatory term for a mental health and social services team in the UK that is available (theoretically) 24/7 to manage patients with an acute (mental health) crisis in their usual residence. Intervention by such teams may provide an alternative to hospital admission. 

Reference www.swlstg-tr.nhs.uk/our-services/wandsworth-crisis-and-home-treatment-team/

ectoplasm

EctoplasmCELL BIOLOGY Exoplasm 

(1) Cytoskeleton, see there

(2) The peripheral, relatively rigid granule-free layer of the cytoplasm which was regarded as a gel that could reversibly convert to a sol

Neither of these definitions are wide current use, as these definitions are based on a quaintly primitive understanding of cell structures obtained by light microscopy

QUACKERY A viscous, gelatinous substance said to differ from every known form of matter; it can solidify and be used for material purposes.

Ectoplasm is allegedly formed by physical mediums, spirit guides and other quacks, and frauds when in a “trance state”.There is no scientifically documented ectoplasm. It has been repeatedly found to represent nothing more than elaborate deception of gullible people.  

Reference Quackery Arthur Conan Doyle, The Edge of the Unknown. New York, GP Putnam, 1930  

limit of viability

PAEDIATRICS Threshold of viability 

The amount of fetal maturity which ensures a reasonable chance of extrauterine survival.

Factors affecting survival in extremely (<26 weeks) premature infants Gestational age, birth weight, gender, plurality, use of antenatal corticosteroid therapy.

Determining the limit of viability is desirable so that costly, painful and ineffective interventions can be avoided in infants with little chance of survival.

Limits of Viability

Weeks of Gestation                 22       23          24            25 

Average birthweight (g)          490     592        695         761

Per cent stillbirth                      25%   10%        0%          0%

Per cent 6-month survival      0%      15%        56%        80%

Days of hospital stay              NA      120±23  107±37   76±23

Survival w/o brain defects     0%      12%        21%        69%   

Reference http://www.uptodate.com/contents/limit-of-viability

railroad track scar railroad track

AESTHETIC MEDICINE

A descriptive term for a scar with obvious cross-hatched stitch marks due to poor repair, excess tension on the skin or a delay in suture removal (which should be ideally removed on the 3rd–5th days–except when the sutures overlie highly mobile sites). Some body regions–e.g., trunk, sternum and proximal extremities are more susceptible to cross-hatching (bottom image). 

GASTROENTEROLOGY

A descriptive term for the macroscopic changes seen in the late fibrosing stages of Crohn’s disease in which longitudinal mucosal lesions heal in parallel tracks, perpendicular to the length of the colonic lumen.  

Reference Surgery: Basic Science & Clinical Evidence; JA Norton, et al., Springer, 2008

19 May 2015

BCAR3 

CELL BIOLOGY, ONCOLOGY

Breast cancer anti-oestrogen resistance 3, SH2 domain-containing protein 3B, NSP2, breast cancer anti-oestrogen resistance protein 3, SH2D3B, breast cancer antiestrogen resistance 3 protein, novel SH2-containing protein 2

The gene on chromosome 1p22.1 that encodes a putative adapter protein which couple activated growth factor receptors to a signaling pathway that regulates breast cancer cell proliferation. BCAR3 may be regulated by cellular adhesion to extracellular matrix proteins.

Molecular pathology Overexpression of BCAR3 renders breast cancer cell lines resistant to anti-oestrogenic agents. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=BCAR3

http://www.uniprot.org/uniprot/O75815

blue ice 

blue_icePUBLIC HEALTH Brown ice, yellow ice

A commercial aviation euphemism for sewage treated with a blue liquid disinfectant which may unintentionally leak out of an aircraft in midflight and plummet to the ground as frozen golf ball- to beach ball-sized masses of yuck goo that can crash through roofs and nastify everything in their path.

27 incidents of blue ice impacts were recorded between 1979 and 2003

Reference http://en.wikipedia.org/wiki/Blue_ice_(aircraft)

www.byjessekatz.com/blueice.pdf

depressive personality disorder 

PSYCHIATRY Melancholic personality disorder

A pervasive pattern of depressive thoughts and behaviours beginning by early adulthood and occurring in various contexts. Depressive personality disorder–DPD has features of both a mood disorder, and a personality disorder.

DPD has waxed and waned in popularity as an entity a sui generis over the past few decades. It was in the DSM-II, removed from the DSM-III and DSM-III-R; regarded as worthy of study in the DSM-IV-TR; and was proposed as a clinical entity in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders–DSM 5 (2013), but not accepted in the final version. 

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

Features of depressive personality disorder

• Mood is dominated by dejection, gloominess, cheerlessness, joylessness, unhappiness

• Self-concept centres around beliefs of inadequacy, worthlessness, and low self-esteem

• Is critical, blaming, and derogatory towards the self

• Broods and worries

• Is negativistic, critical, and judgmental toward others

• Is pessimistic

• Is prone to guilt or remorse

http://millon.net/taxonomy/summary.htm

queuing theory 

queueing_theoryHOSPITAL PRACTICE

A theory by Danish mathematician AK Erlang (1878-1929), which he developed to determine the capacity of telephone networks. Queuing theory becomes immediately applicable to UK medical practice by substituting hospital beds–arguably the NHS’ most precious commodity–for Erlang’s telephone lines; call arrival rate becomes admission rate into beds; and average call duration becomes average length of stay. Queuing theory explains why average bed occupancy depends on the size and functional requirements of each specialty bed pool.

Whereas large hospitals in the USA and Europe have a 77-78% national average bed occupancy rate, the UK average is 87%, a rate which results in patient turnaway (queues for a bed, cancelled operations, medical patients in surgical beds), missed waiting time targets, and the sceptre of organisational chaos manifested by increased use of antidepressants by burnt-out staff, increased hospital errors, cross-infection and patient deaths. 

References Jones R (2011) Hospital bed occupancy demystified. Brit J Healthcare Man 17(6): 242-248

www.hcaf.biz/2011/Hospital_occupancy.pdfwww.telegraph.co.uk/news/politics/8267511/NHS-reforms-will-mean-fewer-hospital-beds.html

R Jones, author of a 2011 paper linking the theory to the UK’s chronic bed shortage, compellingly argued that the Stafford Hospital scandal and the 400 (at least) excess deaths were linked to the unrecognised role of excessive whole hospital occupancy. Will someone please tell NHS chiefs who advocate reducing the bed stock in hospitals as a way of saving money–about the dangers of such a move?  

SIGN 

EVIDENCE-BASED MEDICINE Scottish Intercollegiate Guidelines Network

The Scottish equivalent of NICE–National Institute for Clinical Excellence (UK), which was established in 1993 by the Academy of Royal Colleges and their Faculties in Scotland and approved by NHS Evidence, to develop evidence-based clinical practice guidelines for NHSScotland, and protocols for treating certain diseases and conditions–e.g., diabetes and back pain. 

Whilst SIGN and NICE are functionally similar, they differ based on topics, evaluation of evidence, economics and stakeholder consultation

References www.datadictionaryadmin.scot.nhs.uk/isddd/1909.html

www.pmetb.org.uk/index.aspx?articleid=632

www.nice.org.uk/nhsevidence/ BMJ 2009;339:b4388

www.sign.ac.uk/methodology/comparison.html 

18 May 2015

asterisk sign  

asterisk_signIMAGING

A descriptive term for an early computed tomographic finding in ischaemic necrosis of the femoral head–Legg-Perthes’ disease, which is characterised by delicate, sclerotic, raylike branchings that emanate radially from a central dense zone of thickened bony trabeculae

Reference emedicine.medscape.com/article/386808-overview  

MTCH1

CELL BIOLOGY

Mitochondrial carrier 1, PSAP, PIG60, CGI-64, cell proliferation-inducing protein 60, SLC25A49, presenilin-associated protein, solute carrier family 25—member 49

The gene on chromosome 6p21.2 that encodes a putative mitochondrial transporter, which localises to the mitochondrion inner membrane and induces apoptosis independently of proapoptotic proteins Bax and Bak. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=MTCH1

http://www.uniprot.org/uniprot/Q9NZJ7

post traumatic embitterment disorder

post_traumatic_embitterment_disorderPSYCHIATRY

Paralysing embitterment 

A constellation of symptoms which some mental health professionals regard as a distinct clinical entity. The diagnosis of PTED had been championed by German psychiatrist Michael Linden, who regards it as an extreme form of post-traumatic stress disorder–PTSD in which sufferers believe the world has treated them unfairly. These patients are often treatment resistant because they believe the world has to change, not them, and thus rarely seek therapy; many crave the dish that’s best served cold: revenge. Whereas PTSD has an undercurrent of anger, PTED has one of embitterment due to the violation of strong basic beliefs* about the fairness of life. 

Management Talk therapy and SSRI antidepressants have been used with varying degrees of failure.

*Value systems  learned in childhood and adolescence, which encompass religious or political beliefs, as well as basic definitions of self and one’s goals in life. PTED had been proposed as an entity a sui generis in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, 5th edition–DSM 5, but was not included in the final version published in 2013. 

Reference http://en.wikipedia.org/wiki/Post-traumatic_embitterment_disorder

Russell Group 

russell_groupGRADUATE EDUCATION

Britain’s answer to the American Ivy League

A group of 20 UK universities which are regarded as Britain’s crème de la crème vis-à-vis recherche, l’enseignement et l’expérience de l’apprentissage, and have tight links with business and the public sector. 

Russell Group

• University of Birmingham

• University of Bristol

• University of Cambridge

• Cardiff University

• University of Edinburgh

• University of Glasgow

• Imperial College London

• King’s College London

• University of Leeds

• University of Liverpool

• London School of Economics & Political Science

• University of Manchester

• Newcastle University

• University of Nottingham

• University of Oxford

• Queen’s University Belfast

• University of Sheffield

• University of Southampton

• University College London

• University of Warwick

Reference www.russellgroup.ac.uk/  

survival analysis 

EVIDENCE-BASED MEDICINE, TRIALS

Assessment of the amount of time that a person or population will live once diagnosed with a specific condition or after undergoing a particular type of intervention.

Survival analysis includes procedures that compare survival curves. Survival analysis is a critical step in assessing data from clinical trials, which uses life-tables with cumulative survival rates, from which a distribution curve or set of probabilities of a person receiving a therapeutic protocol of surviving certain time intervals, can be derived.  

17 May 2015

chase up a case 

MEDSPEAKUK Chase up a patient

A popular UK phrase for ascertaining the status of a particular patient, especially after referral to a consultant (specialist), and the patient seems to have dropped off the map, or some aspect of their care has not been addressed. 

chondrography 

INFORMATICS A rarely used term for an account, article, description, discourse, dissertation, document, manuscript, monograph, paper, position piece, report, study, thesis, text, tract, treatise, work, or other writ on cartilage or chondral tissue.

This term got 1,730 hits on 17/05/2013 when the keyword 2013 was added to the search. It is not used in the working medical parlance and should be retired. 

COL2A1

MOLECULAR MEDICINE

COL11A3, SEDC, cartilage collagen, chondrocalcin, collagen alpha-1(II) chain, ANFH, collagen II—Alpha-1 Polypeptide, AOM

The gene on chromosome 12q12-q13.2 that encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and vitreous humour of the eye.

Molecular pathology Defects of COL2A1 cause

• Achondrogenesis—type II, hypochondrogenesis, Langer-Saldino achondrogenesis  OMIM:200610

• Avascular necrosis of the femoral head  OMIM:608805

• Czech dysplasia  OMIM:609162

• Epiphyseal dysplasia—multiple—with myopia and deafness  OMIM:132450

• Kniest dysplasia  OMIM:156550

• Legg-Calve-Perthes disease  OMIM:150600

• Osteoarthritis with mild chondrodysplasia  OMIM:OMIM:604864

• Otospondylomegaepiphyseal dysplasia   OMIM:215150

• Platyspondylic skeletal dysplasia, Torrance type  OMIM:151210

• SED congenita  OMIM:183900

• SED—Namaqualand type  

• SMED Strudwick type  OMIM:184250

• Spondyloperipheral dysplasia  OMIM:271700

• Stickler sydrome, type I, nonsyndromic ocular  OMIM:609508

• Stickler syndrome, type I  OMIM:108300

• Vitreoretinopathy with phalangeal epiphyseal dysplasia 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=COL2A1

http://www.omim.org/entry/120140?search=Early%20onset%20familial%20osteoarthritis%20COL2A1&highlight=early%20onset%20familial%20col2a1%20

pink tooth of Mummery pinktooth

DENTISTRY

Chronic perforating hyperplasia of the pulp, internal resorption

A rare lesion consisting in internal resorption of a tooth’s dentin, initiated by inflammatory hyperplasia of the pulp and haemorrhage, usually not associated with caries. It may appear as a pinkish zone on the crown and, because it is caused by osteoclasts, is termed osteoclastoma; if detected early, root canal therapy can salvage the tooth, otherwise it requires extraction. 

Reference http://www.drchetan.com/internal-resorption-pink-tooth-of-mummery.html

skin picking disorder

dermatillomaniaPSYCHIATRY 

Compulsive skin picking, CSP, neurotic excoriation, pathologic skin picking, PSP,  psychogenic excoriation, skin picking disorder 

An impulse control disorder which is characterised by repetitive and compulsive picking of skin which results in tissue damage at any place within reach of the hands–especially the face, but also the arms, shoulders, chest, fingers and hands. It has features of obsessive-compulsive and abuse disorders.  .

Clinical findings Episodic picking sessions are often temporally linked to tension, anxiety, or stress. It may be accompanied by intense guilt, shame, and embarrassment in individuals, an increased risk of self-harm, suicidal ideation and attempts in 12% of those with skin picking disorder. 

Triggers Stress, anxiety, tension

Common  sites Face, arms, legs, back, gums, lips, shoulders, scalp,chest, and extremities–e.g., fingernails, cuticles, toenails

Complications Local tissue damage, infection and, in extreme cases, septicaemia and disfigurement. 

DiffDx Intense itching and picking at the skin may be secondary to other conditions including eczema, psoriasis, diabetes, liver disease, Hodgkin lymphoma, polycythemia vera, systemic lupus, and Prader-Willi syndrome

Management 

• Behavioural Habit reversal training, CBT–cognitive-behavioural therapy

• Pharmacologic 

  – SSRIs Clomipramine, doxepin, fluoxetine, naltrexone, olanzapine,pimozide

   – Opioid antagonists–e.g., naloxone and naltrexone

  – Glutamatergic agents–e.g., N-acetyl cysteine.

Skin picking disorder is included in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders–DSM 5 (2013). 

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

16 May 2015

compulsive hoarding 

compulsive_hoardingPSYCHIATRY

Pack rat syndrome, packratting, pathological collecting

A pattern of abnormal behaviour characterised by excessive acquisition of and unwillingness to discard large quantities of an array of objects which cover living spaces in the home, causing significant distress, functional impairment, economic burden and adverse effects on the friends and family of the hoarder. Significant hoarding can limit normal activities of daily living, including cooking, cleaning, movement in the home, and sleeping.

Health risks Risk of fire, falling, poor sanitation–e.g., rat, roach and other vermin infestations.

Pathological hoarding is included in the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders–DSM 5 (2013). 

Proposed diagnostic criteria (DSM-5)

• Persistent difficulty discarding or parting with possessions, regardless of the value others may attribute to these possessions.

• Difficulty is due to strong urges to save items and/or distress associated with discarding

• Symptoms result in the accumulation of a large number of possessions that fill up and clutter active living areas of the home or workplace to the extent that their intended use is no longer possible. Decluttering only occurs through the interventions of third parties–e.g., family members, cleaners, authorities.

• Symptoms cause clinically significant distress or impairment in social, occupational, or other important areas of functioning (including maintaining a safe environment for self and others).

• Symptoms are not due to a general medical condition–e.g., brain injury, cerebrovascular disease.

• Symptoms are not attributable to another mental disorder

    – Obsessions in obsessive-compulsive disorder

    – Decreased energy in major depressive disorder

    – Delusions in schizophrenia or another psychotic disorder

    – Cognitive deficits in dementia

    – Restricted interests in autism spectrum disorder

    – Food storing in Prader–Willi syndrome 

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

ELAVL1

ONCOLOGY, PHYSIOLOGY

ELAV (Embryonic Lethal, Abnormal Vision, Drosophila)-Like 1 (Hu Antigen R), Hu-Antigen R, HUR, ELAV1, Hua, MelG

The gene on chromosome 19p13.2 that encodes a ubiquitous member of the ELAVL family of RNA-binding proteins which contain multiple RNA recognition motifs, and selectively bind AU-rich elements–AREs in the 3′ untranslated regions of mRNAs. AREs signal degradation of mRNAs as a way of regulating gene expression; by binding AREs, ELAVL proteins play a role in stabilising ARE-containing mRNAs.

ELAVL1 has been linked to normal biological processes and various diseases, including cancer, in which it may be highly expressed, and thus potentially useful in cancer diagnosis, prognosis, and therapy. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=ELAVL1

http://www.uniprot.org/uniprot/Q15717

first in man study 

EVIDENCE-BASED MEDICINE First in humans study

A self-explanatory term used in the context of clinical trials for the first Phase 1 study in which a test product is administered to human beings. 

Reference http://www.appliedclinicaltrialsonline.com/appliedclinicaltrials/article/articleDetail.jsp?id=700052&sk=&date=1&pageID=17

metabotropic receptor 

METABOLISM

Metabotropic glutamate receptor

A type of G protein-coupled membrane receptor which is indirectly linked to ion-channels through signal transduction, typically by G protein signalling and enzyme activation. In contrast to ionotropic receptors which form ion channels and when activated, open those channels to ions such as Na+, K+, or Cl- allowing their flow in or out of cells, metabotropic receptors do not form ion channels.

Metabotropic receptor activation triggers intracellular events that lead to the production of second messengers that influence ionotropic receptors and ion channel opening. mGluRs can be subdivided into 3 groups (I-III) according to their sequence similarity, transduction mechanism and pharmacological profile. 

References en.wikipedia.org/wiki/Metabotropic_receptor

www.accelrys.com/webzine/01/q2/appnotes/mglur.html  

walnut brain 

walnut_brainNEUROPATHOLOGY A descriptive term for a brain with narrowed gyri and widened sulci which is seen in frontal and temporal lobe atrophy, with relative sparing of parietal and occipital lobes, which is characteristic of Pick’s disease, and has been fancifully likened to the appearance of a walnut. As the atrophy progresses, compensatory ventricular enlargement–ex vacuo hydrocephalus–occurs.

Alzheimer’s disease is more globally atrophied, may affect the parietal lobes, and demonstrate more extreme atrophy, which has been called knife blade atrophy. 

Reference http://www.usmlesteponewiki.com/index.php?title=Pick’s_Disease