tbuckley/cabot-search huggingface dataset:
Novel mutation p.Gly59Arg in<i>GJB6</i>encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss
Authors: I. Nemoto-Hasebe, M. Akiyama, S. Kudo, A. Ishiko, A. Tanaka, K. Arita, H. Shimizu
Journal: British Journal of Dermatology (2009)

Connexins, components of the gap junction, are expressed in several organs including the skin and the cochlea. Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are responsible for various dermatological syndromes and/or inherited hearing loss, frequently showing overlapping phenotypes.To clarify the spectrum of clinical phenotypes caused by connexin mutations.We report a 32-year-old Japanese woman with mild palmoplantar keratoderma (PPK) with severe sensorineural hearing loss, knuckle pads and pseudoainhum of her toes.Direct sequencing revealed no mutation in GJB2, but a novel heterozygous missense mutation p.Gly59Arg in GJB6. Electron microscopy revealed no apparent morphological abnormality of gap junctions in the patient's lesional epidermis.The patient harboured the novel GJB6 missense mutation p.Gly59Arg in the first extracellular loop of Cx30. Mutations in glycine 59 of Cx26 are associated with PPK-deafness syndrome, and the similar phenotype here supports the observed heteromeric channel formation; the dominant nature of the mutation suggests an effect on gap junctions similar to that of the comparable mutation in Cx26.
The Here and Now of Hepatitis B Immunization
Authors: George F. Grady
Journal: New England Journal of Medicine (1986)

A useful message to the Journal's readership is contained in the report by Hadler et al.1 on the protective value of hepatitis B antibody that persists after immunization. Questions about the efficacy of the vaccine have been among the reasons for many physicians not vaccinating themselves, as well as for their lukewarm efforts at immunizing others. If there is a predictable parallelism between immunogenicity and efficacy of a vaccine, the evaluation of the vaccine is simplified for the manufacturer, the authorities who license production, and the expert committees who advise on its use. "Immunogenicity" technically refers only to the . . .
Clinical Pediatric Oncology
Authors: Ruth Andrea Seeler
Journal: JAMA (1985)

The third edition of this classic pediatric oncology text has 54 contributors and represents an up-to-date, state-of-the-art treatise. Many chapters have new authors. There has been a regrouping of material to accommodate the knowledge explosion within pediatric oncology. What were "mere dreams" in earlier editions are now standard therapeutic modalities, eg, bone marrow transplantation for acute nonlymphocytic leukemia. A comprehensive discussion of the general principles of pediatric oncology occupies slightly under one half of the text, the remainder being chapters on specific pediatric malignancies. The book presents the compelling arguments for a "pediatric" pathologist being part of the oncology team and being involved in the preoperative workup in order to ensure that appropriate specimens receive processing and distribution to the other specialized laboratories—tissue culture and genetics, as well as histopathology. The more we have learned and have studied individual patient variability to therapy, the more evident is the need for
American Women are Physically Degenerating.
Authors: James D. Morgan
Journal: JAMA (1893)

Washington, D. C., October, 1893. <h3>To the Editor:</h3> —In The Journal of October 21, Dr. Edmund Andrews of Chicago, takes up the article of Dr.Cyrus Edson on deterioration of American women, published in the October number of the<i>North American Review</i>, and gives us the the more cheerful if not the exact status of American motherhood. With Dr. Andrews the wish is evidently father to the thought; for if we examine the facts as they are presented to us in everyday life, we find there is almost a unanimity of opinion among physicians, nurses and mothers of grown children, that women of the last two decades of years seem to suffer more, become sooner physically exhausted and are slower rallying from childbirth than their mothers before them. Taking haphazard the names of some of those married within the last ten years, of my acquaintance, one can not but see a
When is medical evacuation justified?
Authors: A. R Potter
Journal: BMJ (1998)

Illness is a pain in the neck. Its arrival is always unwelcome, unsolicited, and an intrusion on the more pressing urgency of living. Only the most perverse individual could relish the experience. All the more inconvenient then when you are far from home.

“Not much of you, is there?” joked the avuncular physician as he cast an eye over my unclothed form on the examination couch. I had flown into London that morning, evacuated from west Africa, for investigations into marked loss of weight and a sky high sedimentation rate. The dark spectre of tuberculosis, AIDS, or metastatic malignancy loomed and I saw it reflected in the worried facial expressions of those about me. I, too, was naturally scared, for it could mark the end not only of my chosen career in the tropics but of my very life, neither of which I cared to countenance.

True, I had not been well for the previous three months and, although I had continued with a very full schedule of work, I had stopped running …
Clinical Neurology of the Older Adult
Authors: Tobias Kurth
Journal: JAMA (2009)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Upper gastrointestinal endoscopy.
Authors: C D Holdsworth, G E Sladen, K D Bardhan, G V Balmforth, R A Dixon
Journal: BMJ (1979)

Upper gastrointestinal endoscopy SIR,-While we would agree with the views of Mr V Moshakis (14 April, p 1014) concerning the inadequacies of the conventional barium meal, we disagree with his assertion that endoscopy should be the primary investigation of suspected upper gastrointestinal disease.That conclusion certainly cannot be drawn from our article "Upper gastrointestinal endoscopy: its effect on patient management" (24 March, p 775), to which he refers.
Mechano-Electrical Interaction Late After Fontan Operation
Authors: Tom Wong, Periklis A. Davlouros, Wei Li, Catherine Millington-Sanders, Darrel P. Francis, Michael A. Gatzoulis
Journal: Circulation (2004)

The growing population with Fontan operation surviving into adulthood has significant morbidity and mortality rates from recurrent atrial tachyarrhythmias. We hypothesized that the structural characteristics and electrical behavior of atria may differ in these patients compared with those without arrhythmias.We studied 33 consecutive patients (age, 25.4+/-9.5 years) with Fontan circulation, of whom 19 had a history of documented sustained atrial tachyarrhythmias. We analyzed their clinical and investigational data, including echocardiographic assessment of atrial dimensions and surface 12-lead ECG measurement of the P-wave duration and its dispersion between leads. Twenty age- and sex-matched healthy control subjects were also studied. First, patients who had the Fontan procedure overall had longer P-wave duration (144+/-33 versus 100+/-7 ms, P<0.001) and greater P-wave dispersion (74+/-33 versus 34+/-9 ms, P<0.001) than control subjects. Among the patients who had the Fontan procedure, those with atrial tachyarrhythmias had longer P-wave duration (159+/-28 versus 123+/-28 ms, P<0.001) and greater P-wave dispersion (91+/-30 versus 50+/-19 ms, P<0.001) than those without. Second, the patients with atrial tachyarrhythmias who had the Fontan procedure had larger right atrial dimension than those without arrhythmias (6.4+/-1.4 versus 5.0+/-1.0 cm, P=0.01). Third, both P-wave duration and dispersion were significantly correlated to right atrial dimension within the Fontan group (r=0.55, P=0.002, and r=0.56, P=0.002, respectively).Patients with atrial tachyarrhythmias late after Fontan operation have longer P-wave duration and P-wave dispersion and larger right atrial dimension than those without the arrhythmias; these abnormalities are interrelated. This observation represents an atrial mechano-electrical remodeling phenomenon in parallel to an increase in arrhythmia propensity in this vulnerable population and warrants further investigation.
AB0973 Relationship between obesity, functionnal status and quality of life in patients with knee osteoarthritis:
Authors: H. Rkain, I. Ben Slama, L. Traki, I. Bouaddi, L. Bouazzaoui, F. Allali, N. Hajjaj Hassouni
Journal: Annals of the Rheumatic Diseases (2013)

<h3>Background</h3> so as to analyze relationship between obesity, functionnal status and quality of life in patients with knee osteoarthritis, we have included 50 patients with knee osteoarthritis, the WOMAC and the OAKHQOL were used. <h3>Objectives</h3> The association between obesity and knee osteoarthritis (OA), and specifically the role of obesity as a risk factor for knee osteoarthritis has been well documented. We aimed to explore relationship between obesity and functional status and quality of life (QoL) in patients with knee OA. <h3>Methods</h3> 50 patients (mean age 59.04 [46-79] ± 8.98 years) with bilateral knee OA according to ACR criteria have been included. Functional status assessed by Lequesne and by the Moroccan version of WOMAC (Western Ontario and McMaster Universities Osteoarthritis) was compared between obese patients (BMI &gt;30m/kg2) and non obese patients (BMI&lt;30m/kg2). The Moroccan version of the osteoarthritis knee and hip quality of life questionnaire (OAKHQOL) was used to assess quality of life in the 2 groups. Because of the high percentage of illiteracy in Moroccan population, the WOMAC and the OAKHQOL have been filled by the investigator while interviewing OA patients (using face-to-face technique). <b>Results:</b> <h3>Conclusions</h3> This study suggests that women suffering from knee OA have poor functional status and more disturbed quality of life domains of physical activities and pain. These data should be verified by larger studies. <h3>Disclosure of Interest</h3> None Declared
Management importance of common treatments: contribution of top 20 procedures to surgical workload and cost.
Authors: B W Ellis
Journal: BMJ (1991)

To assess the contribution of the most frequently performed procedures to surgical workload and to evaluate the financial implications.Analysis of data held on the department's computerised clinical information system.Department of surgery in a district general hospital.4845 patients were treated by surgeons in three consultant firms over an 18 month period and 5346 patients by surgeons in a single firm over a five year period.Percentage and cumulative percentage contribution to workload in order of frequency by procedure. Costs of the commonest and costliest treatments.Half of the workload of the department was encompassed by eight procedures. Twenty procedures accounted for 70% of the work. For a single firm 20 procedures represented over 80% of all the surgical work. Transurethral prostatectomy was the treatment that consumed most resources (pounds 240,900 for 198 patients in 18 months). The costliest patients were those who had undergone complicated large bowel surgery, vascular reconstructions, or amputation.Clinicians and managers need to appreciate the importance of the most common surgical procedures. It is vital that performance and costing of these procedures are optimum as they contribute disproportionately to overall results and finance.
Mammographically Occult Breast Cancer
Authors: B L Daniel
Journal: New England Journal of Medicine (1999)

Figure 1. A right axillary mass was palpated by a 62-year-old woman while she was exercising. Surgical biopsy revealed adenocarcinoma, suggestive of metastatic breast cancer. The results of physical examination and mammography of the right breast were normal. One minute after a bolus intravenous injection of gadopentetate dimeglumine (0.1 mmol per kilogram of body weight), 1.5-T, high-resolution, T1-weighted, three-dimensional, water-specific magnetic resonance imaging (MRI) of the right breast revealed an irregular mass (arrow). MRI-guided needle localization was performed, and the location of the lesion was marked with an MRI-compatible hook wire. Subsequent lumpectomy revealed a 1.2-cm invasive ductal . . .
Antitumor Activity and Immune Responses Induced by a Recombinant Carcinoembryonic Antigen-Vaccinia Virus Vaccine
Authors: J. Kantor, K. Irvine, S. Abrams, H. Kaufman, J. Dipietro, J. Schlom
Journal: JNCI Journal of the National Cancer Institute (1992)

Journal Article Antitumor Activity and Immune Responses Induced by a Recombinant Carcinoembryonic Antigen-Vaccinia Virus Vaccine Get access Judy Kantor, Judy Kantor Laboratory of Tumor Immunology and Biology, Division of Cancer Biology, Diagnosis, and Centers, National Cancer InstituteBethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar Kari Irvine, Kari Irvine Laboratory of Tumor Immunology and Biology, Division of Cancer Biology, Diagnosis, and Centers, National Cancer InstituteBethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar Scott Abrams, Scott Abrams Laboratory of Tumor Immunology and Biology, Division of Cancer Biology, Diagnosis, and Centers, National Cancer InstituteBethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar Howard Kaufman, Howard Kaufman Laboratory of Tumor Immunology and Biology, Division of Cancer Biology, Diagnosis, and Centers, National Cancer InstituteBethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar Judy Dipietro, Judy Dipietro Laboratory of Tumor Immunology and Biology, Division of Cancer Biology, Diagnosis, and Centers, National Cancer InstituteBethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar Jeffrey Schlom Jeffrey Schlom * Laboratory of Tumor Immunology and Biology, Division of Cancer Biology, Diagnosis, and Centers, National Cancer InstituteBethesda, Md. * Correspondence to: Jeffrey Schlom, Ph. D., National Institutes of Health, Bldg. 10, Rm. 8B07, Bethesda, MD 20892. Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 84, Issue 14, 15 July 1992, Pages 1084–1091, https://doi.org/10.1093/jnci/84.14.1084 Published: 15 July 1992 Article history Received: 17 December 1991 Revision received: 03 April 1992 Accepted: 21 April 1992 Published: 15 July 1992
Anticentromere antibody in primary biliary cirrhosis.
Authors: R M Bernstein, M E Callender, J M Neuberger, G R Hughes, R Williams
Journal: Annals of the Rheumatic Diseases (1982)

An autoantibody specific for the centromere region of chromosomes and recently detected in the serum of patients with scleroderma was found in ther serum of 10 (9.1%) of 110 consecutive patients presenting with primary biliary cirrhosis. It was found exclusively among those with scleroderma, giving a prevalence of 50% in that group, and all patients with telangiectasia or calcinosis had the antibody. It was not found in 80 patients with chronic active hepatitis, including the 'autoimmune' variety. The pathogenetic significance of anticentromere antibody is not yet established, but this study confirms its specificity for scleroderma in the context of primary biliary cirrhosis.
Cessation of Smoking and Reduced Risk of Death
Authors: Carl C. Seltzer
Journal: JAMA (1985)

<h3>To the Editor.—</h3> Dr Lewis Kuller is reported by your MEDICAL NEWS Editor Phil Gunby<sup>1</sup>as stating that while at the end of the Multiple Risk Factor Intervention Trial (MRFIT),<sup>2</sup>the "intervention group" had cut its smoking rate markedly more than the "usual care group [controls]... the men who quit smoking had a coronary death rate almost 50% below those who kept on smoking." This reported statement by Dr Kuller leaves the impression that the randomized controlled MRFIT experiment establishes that quitting smoking results in a substantial decline in coronary death rate. This is just not so. The randomized MRFIT experiment does not prove that quitting smoking causes a decline in coronary death rate. This is because the data analysis Dr Kuller referred to was obtained<i>outside the randomized controlled design of the MRFIT trial</i>. The unique character of the MRFIT was its randomized controlled design, adopted expressly
In Pursuit of “Informed Hope” in the Stem Cell Discourse
Authors: Joanne Reimer, Emily Borgelt, Judy Illes
Journal: The American Journal of Bioethics (2010)

"In Pursuit of "Informed Hope" in the Stem Cell Discourse." The American Journal of Bioethics, 10(5), pp. 31–32 Acknowledgments The authors' work is supported by the Stem Cell Network 20R44220, CIHR/INMHA CNE number 85117, the British Columbia Knowledge Development Fund (BCKDF), and the Vancouver Coastal Health Research Institute (VCHRI).
A Meta-Analysis of 17 Randomized Trials of a Percutaneous Coronary Intervention-Based Strategy in Patients With Stable Coronary Artery Disease
Authors: Albert Schömig, Julinda Mehilli, Antoinette de Waha, Melchior Seyfarth, Jürgen Pache, Adnan Kastrati
Journal: Journal of the American College of Cardiology (2008)
Increased plasma and renal clearance of an exchangeable pool of apolipoprotein A-I in subjects with low levels of high density lipoprotein cholesterol.
Authors: B S Horowitz, I J Goldberg, J Merab, T M Vanni, R Ramakrishnan, H N Ginsberg
Journal: Journal of Clinical Investigation (1993)

Plasma levels of HDL apo A-I are reduced in individuals with low HDL cholesterol (HDL-C) concentrations as a result of increased fractional catabolic rates (FCRs). To determine the basis for the high apo A-I FCRs, seven subjects with low HDL-C levels (31.0 +/- 4.3 mg/dl) were compared with three subjects with high HDL-C levels (72.0 +/- 4.5 mg/dl). Each subject received autologous HDL that was labeled directly by the iodine-monochloride method (whole-labeled) and autologous HDL that was labeled by exchange with homologous radiolabeled apo A-I (exchange-labeled). Blood was obtained for 2 wk, specific activities determined, and FCRs (d-1 +/- SD) estimated. In every subject, whether in the low or high HDL-C group, the exchange-labeled FCR was greater than the whole-labeled FCR. The exchange-labeled FCR was higher in the low HDL-C group (0.339 +/- 0.043) versus the high HDL-C group (0.234 +/- 0.047; P < 0.009). The whole-labeled FCR was also greater in the low HDL-C group (0.239 +/- 0.023) versus the high HDL-C group (0.161 +/- 0.064; P < 0.02). In addition, in both low and high HDL groups ultracentrifugation resulted in more radioactivity in d > 1.210 (as percentage of total plasma counts per minute) with the exchange-labeled tracer than with the whole-labeled tracer (12.55 +/- 4.95% vs. 1.02 +/- 0.38%; P < 0.003). With both HDL tracers, more radioactivity was found in d > 1.210 in the low versus the high HDL-C groups. When apo A-I catabolism was studied by perfusing isolated rabbit kidneys with whole-labeled HDL, there was twice as much accumulation (cpm/g cortex) of HDL apo A-I isolated from subjects with low HDL-C than from subjects with high HDL-C (P < 0.0025). Finally, HDL that had been isolated from subjects with high levels of HDL-C was triglyceride enriched and exposed to partially purified lipases before perfusion through kidneys. Threefold more apo A-I from modified HDL accumulated in the cortex compared with the unmodified preparation (P < 0.007). The results of these in vivo and ex vivo studies indicate that individuals with low HDL-C levels have more loosely bound, easily exchanged apo A-I and that this exchangeable apo A-I is more readily cleared by the kidney.
Sensitive periods of susceptibility to auditory trauma in mammals.
Authors: J C Saunders, C S Chen
Journal: Environmental Health Perspectives (1982)

Evidence is presented to support the hypothesis that the cochleae of young animals are more susceptible to auditory trauma than the cochleae of the adult. A sensitive period of heightened susceptibility to acoustic trauma from noise exposure has been demonstrated in three mammalian species. The cochlear pathology associated with this trauma is severe damage to the outer hair cell system. Abnormal growth of auditory evoked responses recorded in central auditory nuclei accompanies the receptor damage during the sensitive period. There is evidence of a similar sensitive period of susceptibility to cochlear insult from ototoxic drugs. The time frame of the sensitive period may be different for drug or noise insult to the cochlea, but the principal pathology of outer hair cell loss remains the same in both cases. The implication of these sensitive periods to auditory trauma, for human development is considered.
Coronary Artery Bypass Graft Surgery in Ontario and New York State: Which Rate Is Right?
Authors: Jack V. Tu
Journal: Annals of Internal Medicine (1997)

Background: Previous studies have shown that the rate of coronary artery bypass graft (CABG) surgery is much higher in New York State than in Ontario. Objective: To compare the service context and clinical characteristics of patients having CABG surgery in New York and Ontario. Design: Retrospective analysis of data from cardiac surgery registries in New York and Ontario. Patients: All 16 690 patients in New York and 5517 patients in Ontario who had isolated CABG surgery in 1993. Measurements: Clinical characteristics of patients having CABG surgery and rates of CABG surgery by coronary anatomy. Results: The overall age-adjusted rate of isolated CABG surgery was 1.79 times (95% CI, 1.74 to 1.85) greater in New York than in Ontario. Patients who had CABG surgery in New York were more likely to be elderly and female and to have recently had myocardial infarction (P < 0.001), whereas patients who had CABG surgery in Ontario were more likely to have had left ventricular dysfunction and severe coronary artery disease (two-vessel disease with proximal left anterior descending disease, three-vessel disease, or left main disease) (P < 0.001). The relative rate of CABG surgery for left main disease was 2.53 times (CI, 2.35 to 2.73) greater in New York than in Ontario but was 8.97 times (CI, 8.01 to 10.06) greater for patients with limited coronary artery disease (one-vessel or two-vessel disease without proximal left anterior descending disease). Conclusions: The higher rates of CABG surgery in New York are associated with higher rates of CABG surgery among the elderly, women, and patients who recently had myocardial infarction. Potential underservicing in Ontario is suggested by a lower rate of CABG surgery for left main disease; however, the higher rate of CABG surgery in New York is also associated with a strikingly higher rate of surgery in patients with limited coronary disease. Such trade-offs highlight the difficulty of defining an optimal rate of CABG surgery.