10 September 2014
SOCIAL MEDICINE The marriage of a person to another of his/her same social, economic, or cultural group–e.g. Amish, Ashkenazi Jews.
SOCIAL 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
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).
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).
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).
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).
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).
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).
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)..
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) .
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.
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.
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.
SURGERY A term of art for the timeframe between when an anaesthetised patient is turned over to the surgical team and the first incision.
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.
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.
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.
8 September 2014
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
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
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.
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
MILITARY, 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
7 September 2014
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).
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.
TROPICAL MEDICINE A pretty self-explanatory term for a person who studies or manages one or more aspects of malaria.
An equally self-explanatory term for the formal study of malaria.
MICROBIOLOGY 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.
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.
• 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).
J Cardiothoracic & Vascular Anesthesia. 2013; 27(4): 809-815.
OBSTETRICS 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. .
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
ether-à-go-go related gene potassium channel
CARDIOLOGY, 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
CELL BIOLOGY Klotho, KLOTHO, EC 220.127.116.11, 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.
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
TRANSPLANT 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