tbuckley/cabot-search huggingface dataset:
Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations
Authors: W. Szczecinska, D. Nesteruk, K. Wertheim‐Tysarowska, D.T. Greenblatt, D. Baty, F. Browne, L. Liu, L. Ozoemena, A. Terron‐Kwiatkowski, J.A. McGrath, J.E. Mellerio, J. Morton, K. Woźniak, C. Kowalewski, C. Has, C. Moss
Journal: British Journal of Dermatology (2014)

Acral peeling skin syndrome (APSS) is a rare skin fragility disorder usually caused by mutations in the transglutaminase 5 gene (TGM5).We investigated the mutation spectrum of APSS in the U.K., Germany and Poland.We identified 59 children with APSS from 52 families. The phenotype was readily recognizable, with some variation in severity both within and between families. Most cases had been misdiagnosed as the localized form of epidermolysis bullosa simplex (EBS-loc). Eighteen different TGM5 mutations were identified, 15 of which were novel. Eight mutations were unique to a single family, nine each occurred in two families, while the common p.Gly113Cys mutation linked to a second missense variant p.Thr109Met occurred in 47 of the 52 families and was homozygous in 28. Most patients were of nonconsanguineous white European origin.We propose that APSS is under-reported and widely misdiagnosed as EBS-loc, with significant counselling implications as APSS is autosomal recessive while EBS-loc is dominant. We recommend screening for TGM5 mutations when EBS-loc is suspected but not confirmed by mutations in KRT5 or KRT14. Our report trebles the number of known TGM5 mutations. It provides further evidence that p.Gly113Cys is a founder mutation in the European population. This is consistent with the striking ethnic distribution of APSS in U.K., where the majority of patients are of nonconsanguineous white European origin, in contrast to the pattern of other recessive skin disorders.
Effects of reperfusion on ischemic right ventricular dysfunction. Disparate mechanisms of benefit related to duration of ischemia.
Authors: S B Laster, Y Ohnishi, J E Saffitz, J A Goldstein
Journal: Circulation (1994)

BACKGROUND Right ventricular free wall (RVFW) ischemia impairs global RV performance and may result in acute hemodynamic compromise. However, RV function and hemodynamic performance typically improve spontaneously over time. This study was designed to determine whether reperfusion facilitates recovery of function in the ischemic right ventricle. METHODS AND RESULTS Closed chest dogs underwent right coronary balloon occlusion for 1 hour (n = 9), 4 hours (n = 6), or 8 hours (n = 7). In all animals, occlusion depressed RVFW function and global RV performance. After 1 hour of ischemia, reperfusion led to immediate improvement in RVFW function and consequently global RV performance, with complete recovery over 4 weeks and scar in &lt; 1% of total RVFW area. Reperfusion after 4- and 8-hour occlusions resulted in acute improvement in global RV performance but to a lesser extent and by different mechanisms, since RVFW contraction remained severely impaired. This disproportionate recovery of global RV function was attributable to diminished RVFW dyskinesis associated with reperfusion-induced increments in RVFW diastolic thickness (characterized histopathologically in 6 additional animals subjected to 4-hour occlusions but killed 1 hour after reperfusion by interstitial edema, contraction band necrosis, and hemorrhage). Although later reperfusion was associated with a slower pace and lesser extent of recovery, RVFW contraction improved markedly over time. At 4 weeks, there was trivial RVFW scar in 4-hour animals (2% of total RVFW area), and, although fibrosis was significantly greater in 8-hour animals (7% of RVFW area), infarction was minimal relative to the extent of jeopardized myocardium. CONCLUSIONS The responses of ischemic RV myocardium to reperfusion are complex, with disparate effects according to the duration of preceding ischemia. Early reperfusion results in prompt improvement in and subsequent complete recovery of RVFW contraction and global RV performance, with trivial or no RVFW scar. Late reperfusion leads to little acute recovery of RVFW function, but global performance improves owing to diminished RVFW dyskinesis associated with reperfusion-induced increments in RVFW diastolic thickness. Nevertheless, RVFW function improves over time, with minimal evidence of infarction. Therefore, reperfusion facilitates recovery of RV function and minimizes the extent of infarction even after prolonged ischemia.
General practitioners and management of infection with HIV
Authors: P. Anderson, R. Mayon-White
Journal: BMJ (1988)

General practitioners will have an increasingly important role in the management of patients with the acquired immune deficiency syndrome (AIDS) and infections with human immunodeficiency virus (HIV) as the numbers of cases increase. Altogether 280 general practitioners working in Oxfordshire were sent a postal questionnaire inquiring about their education, knowledge, current practice, and attitudes in relation to managing infections with HIV. Of the 235 (84%) general practitioners who replied, nine out of 10 were giving advice about infection with HIV to their patients. One in two were testing patients for such infection, and one in four were caring for infected patients. Nevertheless, uncertainty remained about the risks of transmission of infection with HIV and general practitioners9 knowledge of educational activities for their patients could be improved. The introduction of a facilitator to work with general practitioners in managing patients with AIDS or infection with HIV is planned, especially to help general practitioners develop the skills needed for prevention.
What general practitioners should do about breast screening
Authors: P. A Creighton
Journal: BMJ (1995)

few suitably trained radiologists.The results of the United Kingdom Coordinating Committee on Cancer Research breast screening frequency trial which is designed to identify the optimum interval for screening should become available next year.The existence of a properly funded national quality assurance programme with a comprehensive feedback system has ensured that, although the preliminary results from the United Kingdom's national programme seemed satisfactory, the occurrence of a higher than expected rate of interval cancers has been recognised early.Immediate steps are being taken to identify the reasons why and implement corrective action.
The Double Helix in Academic Medicine
Authors: C. J. WATSON
Journal: Annals of Internal Medicine (1962)

Editorials1 January 1962The Double Helix in Academic MedicineC. J. WATSON, M.D., PH.D., M.A.C.P.C. J. WATSON, M.D., PH.D., M.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-56-1-157 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe great emphasis on research which came in the wake of World War II is now giving rise to some conflicting feelings in the minds of many who are interested in the investigation of human disease and the teaching of medicine. It may seem superfluous, but it is nonetheless essential to my theme, to point out that these activities have developed from the earliest beginnings in a unified and highly integrated manner. It has been traditional for young men to initiate their careers in clinical investigation concurrently with the study and care of the sick. The development of their investigative...References1. HUXLEY J: The emergence of Darwinism. Perspect. Biol. Med. 3: 321, 1960. CrossrefMedlineGoogle Scholar2. RICHARDS AN: Remarks at the dedication of the A. N. Richards Research Institute. Bull. Univ. Penn.: 1959. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Medicine University of Minnesota Minneapolis, Minnesota PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByBiomolecules 1 January 1962Volume 56, Issue 1Page: 157-160KeywordsAcademic medicineEmotions Issue Published: 1 January 1962 PDF DownloadLoading ...
TCT-745 CoreValve Oversizing Using Multislice Computed Tomography and Clinical Outcomes: A Comparison with Transesophageal Echocardiography
Authors: Darren Mylotte, Magdelena Dorfmeister, Yacine Elhmidi, Domenico Mazzitelli, Sabine Bleiziffer, Rudiger Lange, Nicolo Piazza
Journal: Journal of the American College of Cardiology (2013)
Interactions of insulin, insulinlike growth factor II, and platelet-derived growth factor in erythropoietic culture.
Authors: N Dainiak, S Kreczko
Journal: Journal of Clinical Investigation (1985)

To examine the influence of insulin and insulinlike growth factor (IGF) on erythropoiesis, we tested their effects in human bone marrow cultures prepared with biochemically defined medium or a platelet-poor plasma-derived serum (PDS) that was depleted of hormones by adsorption to activated charcoal. Erythroid colony formation was enhanced two- to threefold by 10 ng/ml of electrophoretically pure IGF-II and 100 ng/ml of highly purified insulin (P less than 0.05). Dose-response curves for IGF-II were parallel to and shifted by one to two orders of magnitude to the left relative to those for insulin. When added together to culture, IGF-II and insulin expressed additive activities. In contrast, their activities were synergistic with those of erythropoietin and burst-promoting activity. The erythropoietic actions of IGF-II and insulin were similar in PDS and whole blood serum (WBS) containing cultures. Furthermore, when added to cultures with electrophoretically pure platelet-derived growth factor, their respective activities were synergistic. We conclude that insulin and IGF-II potentiate human marrow erythropoiesis in vitro. Their activities appear to be mediated by a similar receptor or postreceptor system.
Tales from the chocolate factory
Authors: C. Douglas
Journal: BMJ (1995)

Now, let's see. Male or female? Easy. Age? Again no problem. What position do you hold? That's a bit more complicated, and none of the boxes really fits. How many management courses have you attended? Frankly I've lost count, and you wouldn't want me to guess, would you? After all, this is a serious questionnaire about management education for clinicians.

Any drawbacks? One or two. A course a long time ago, right back at the beginning, a week in high summer at a hotel in the Cairngorms like an unusually sybaritic Bavarian youth hostel. Their first steps in management education. My first steps in management. Compulsory first-name badges—just like a toddler's birthday party—and endless sessions in a black-painted windowless basement where we sit sweltering while outside the pines, heather, …
Increased expression and regional differences of atrial myosin light chain 1 in human ventricles with old myocardial infarction. Analyses using two monoclonal antibodies.
Authors: K Nakao, H Yasue, K Fujimoto, M Jougasaki, H Yamamoto, Y Hitoshi, K Takatsu, E Miyamoto
Journal: Circulation (1992)

BACKGROUND This study was designed to examine the expression of atrial/fetal-type myosin light chain 1 (ALC1) in human ventricles with old myocardial infarction and in control hearts. METHODS AND RESULTS The expression of immunoreactive (ir) ALC1 was examined in the subendocardial and subepicardial myocardium of the infarcted and the noninfarcted regions in the left ventricles with old myocardial infarction (n = 12) and of the control left ventricles (n = 8). For the analysis, we prepared two monoclonal antibodies, KA1 and KB1, that were specific for only ALC1 and for both ALC1 and ventricular myosin light chain 1 (VLC1), respectively. The ir-ALC1 expression ratio [ALC1/(ALC1 + VLC1), %] of the subendocardial myocardium, determined densitometrically by Western blotting with KB1, was significantly higher in the infarcted region (11.4 +/- 7.3%) than in the noninfarcted region (4.7 +/- 2.3%, p &lt; 0.001) and the control ventricle (1.0 +/- 1.5%, p &lt; 0.0001). In the infarcted region, the subendocardial myocardium contained a significantly greater percentage of ir-ALC1 than the subepicardial myocardium (5.8 +/- 6.7%, p &lt; 0.005). The ir-ALC1 expression ratio had a significant negative correlation with the value of tissue protein concentration (milligrams protein per gram wet weight). The immunohistochemical study with KA1 revealed that the surviving myocytes included in the infarcted region, especially in the ventricular aneurysm, expressed ir-ALC1 strongly in comparison with those in the noninfarcted or the control ventricles. CONCLUSIONS These results demonstrate increased expression of ALC1 and the regional differences in the failing left ventricles with old myocardial infarction. We conclude that the reexpression of ALC1 in infarcted ventricles occurs as one of the regional responses to increased load and may be a useful biochemical marker for the appearance of fetal-type myocytes.
A, B or O: What's the Difference?
Authors: Eloise R. Giblett, Marie C. Crookston
Journal: New England Journal of Medicine (1973)

The ABO system has two features unique among blood-group systems: the antigens (A, B and H), when present, are widely distributed in the cells and fluids of the body; and the antibodies (anti-A, anti-B and anti-H) occur regularly in the plasma of people who lack the corresponding antigens. ABO incompatibility is thus a major immunologic hazard, capable of causing hemolytic transfusion reactions, hemolytic disease of the newborn and destruction of grafted tissues. Surprisingly enough, the structural difference between the A and B antigens is very small. Group A specificity is determined by α-linked N-acetyl-D-galactosamine, and B specificity by a-linked D-galactose. . . .
Rescue from granzyme B-induced apoptosis by Wee1 kinase.
Authors: G Chen, L Shi, D W Litchfield, A H Greenberg
Journal: The Journal of Experimental Medicine (1995)

Granzymes are a family of granule-associated serine esterases that mediate apoptosis by cytotoxic T lymphocytes and natural killer cells. We have previously shown that cdc2, the mitosis-regulating cyclin-dependent kinase, is required for granzyme B-induced apoptosis in target cells. In addition, granzyme B induces premature activation and tyrosine dephosphorylation of cdc2 during apoptosis. Throughout most of the cell cycle and until the cell is prepared to enter mitosis, cdc2 kinase activity is negatively regulated by phosphorylation of a residue within its adenosine triphosphate-binding domain by Wee1, a nuclear kinase that maintains mitotic timing in eukaryotic cells. We have transiently expressed c-myc epitope-tagged Wee1 cDNA in BHK cells. Cells that expressed Wee1 in the nucleus became resistant to apoptosis induced by granzyme B and perforin. Wee1-transfected cells also exhibited markedly increased cdc2 tyrosine phosphorylation. Thus, Wee1 can rescue cells from granzyme-induced apoptosis by preventing cdc2 dephosphorylation.
Kidney transplants in mice. An analysis of the immune status of mice bearing long-term, H-2 incompatible transplants
Authors: PS Russell, CM Chase, RB Colvin, JMD Plate
Journal: The Journal of Experimental Medicine (1978)

Kidney transplants between strains of mice which are incompatible at either the K or the D end of the H-2 complex usually function for prolonged periods supporting the lives of nephrectomized recipients. This occurs with no recipient treatment. With multiple H-2 and non-H-2 determined incompatibilities, transplants may be rejected but more slowly than skin grafts. In the strain combination studied most extensively in these experiments (B10.D2 to B6AF(1)) in which the incompatibility was confined to the K end of the H-2 region, about 70 percent of recipients survived for many weeks with normal blood urea nitrogen levels. Skin grafts between untreated members of these strains were rejected promptly (mean survival time of 13.5 +/- 1.1 days) as were kidney transplants to recipients of prior skin grafts. Donor strain skin grafts to recipients of kidney transplants after kidney transplantation enjoyed greatly prolonged survival whereas skin grafts from a third party (A.SW) were rejected normally. If kidney tissue was transferred in the form of free grafts without primary vascular union, it was rejected promptly leaving its recipient highly immunized. Cellular and humoral immunity to donor antigens declined over the first few weeks after transplantation, and the spleens of long-term recipients contained no killer cells. Recipient lymphoid cells could mount active graft versus host reactions to donor strain antigens on transfer to neonatal mice. Nevertheless, they were distinctly less able to respond specifically by the production of killer cells to donor strain antigens after sensitization in vitro. No evidence that this defect was associated with the presence of suppressor cells was forthcoming from several types of in vivo and in vitro tests.
Recessions during working life may lead to later cognitive decline
Authors: Z. Kmietowicz
Journal: BMJ (2013)

More evidence that work is good for mental wellbeing comes from a study that found that people who live through economic recessions may have worse cognitive decline in later life, brought on by redundancy, enforced part time work, and lower paid and lower status jobs.

To examine whether recessions during working life affect cognitive function, researchers analysed data on 12 000 people in 11 countries who took part in the representative Survey of Health, Ageing, and Retirement in Europe (SHARE). This looks at the health, employment, and social conditions of Europeans aged 50 years …
Comparison of Capsule Endoscopy and Magnetic Resonance Imaging for the Detection of Polyps of the Small Intestine in Patients with Familial Adenomatous Polyposis or with Peutz-Jeghers’ Syndrome
Authors: R. Caspari, M. von Falkenhausen, C. Krautmacher, H. Schild, J. Heller, T. Sauerbruch
Journal: Endoscopy (2004)

Background and Study Aims: We have conducted a study to compare the diagnostic yields of magnetic resonance imaging (MRI) and capsule endoscopy for the detection of small-bowel polyps in patients with inherited polyposis syndromes. Patients and Methods: MRI was performed in 20 patients, with either Peutz-Jeghers' syndrome (PJS; n = 4) or familial adenomatous polyposis (FAP; n = 16), and capsule endoscopy was done the next day. The number, size, and location of polyps were analyzed. Results: Overall, 448 polyps ranging from about 1 mm to 30 mm in size were detected in eight patients by capsule endoscopy, whereas with MRI only 24 polyps all bigger than 5 mm could be seen in the four PJS patients. Conclusions: Polyps bigger than 15 mm were detected similarly with capsule endoscopy and MRI, whereas smaller polyps were seen much more often with capsule endoscopy. Polyps smaller than 5 mm were exclusively seen with capsule endoscopy. However, location of the detected polyps and determination of their exact sizes was more accurate by MRI.
Clinicolaboratory Study of Acute Gonorrhea in Men in the El Paso, Tex., Area
Authors: Burton Sokoloff
Journal: JAMA (1963)

Resistance to penicillin has become an important factor in the epidemiology of gonorrhea. Among military personnel stationed in the El Paso area, the finding of resistance in vitro was seen to be correlated with poor clinical outcome. No failures followed initial treatment with 2.5 million units. But when 1.0 million units of procaine penicillin G, or 600,000 of both procaine plus benzathine penicillin, were used, 15% failed. Further inquiry disclosed that these failures involved organisms having a minimal inhibitory concentration of 0.10 unit/ml or greater. Although sought for, no organism of the tribe Mimea was isolated during this study; this was curious because a number of these men had earlier been stationed in the Far East and Europe where such organisms have been reported frequently.
The Shocking Tooth about Trigeminal Neuralgia
Authors: William P. Cheshire
Journal: New England Journal of Medicine (2000)

To the Editor: A 66-year-old woman with a two-year history of right-sided trigeminal neuralgia (involving the second trigeminal division) presented with severe exacerbation of her typical sharp pain after a root-canal procedure in a right upper incisor. The procedure had slightly repositioned a mercury-amalgam restoration, nudging it closer to the adjacent tooth, which bore a gold-alloy crown. Thereafter, and until the mercury amalgam was replaced by a porcelain restoration, tomatoes or certain other acidic foods would produce intense jolts, described as being like those of an “electrical battery,” in the right palate, boosting the pain in the same division of . . .
An adolescent with persistent cough, abdominal pain and refusal to walk from Salesi Children's Hospital
Authors: Silvia Angeloni, Ines Carloni, Patrizia Osimani, Lucia Amici, Cecilia Lanza, Fernando Maria de Benedictis
Journal: Thorax (2014)

A 12-year-old boy was admitted to our unit for a 3-day history of abdominal and right groin pain, refusal to walk and relapse of fever. His clinical history was uneventful until 2 weeks before, when he developed acute onset of fever, cough and breathlessness. Right upper lobe pneumonia was diagnosed by chest X-ray and intramuscular ceftriaxone treatment was administered for 10 days followed by fever reduction after 3-day therapy. On admission, he appeared quite unwell with fever and wet cough. He was moderately tachycardic and tachypnoeic with oxygen saturations of 94% in air. Chest examination revealed dullness to percussion and reduced breath sound over the upper right lung field with a few crackles. Abdomen was diffusely painful and tender to palpation in the left upper quadrant. Mild splenomegaly was also evident. The proximal portion of the right thigh appeared moderately swollen and warm, with no skin colour changes. Laboratory investigation revealed 23 000/mm3 white blood cells (77% neutrophils), with normal platelet count and haemoglobin level. Erythrocyte sedimentation rate and C reactive protein were 48 mm/h and 7.4 mg/dL (<0.5), respectively. Liver and renal function tests were normal. Repeated chest X-rays revealed right upper lobe consolidation.

We have a previously healthy young boy with persistence of clinical and radiological findings of pneumonia who developed non-respiratory symptoms over the last few days. Correct drug administration, antibiotic resistance, aggravating or underlying conditions, complicated pneumonia and aetiological agents unresponsive to treatment should be taken into account in similar cases. Streptococcus pneumoniae is the most common bacterial cause of community-acquired pneumonia in childhood. Although amoxicillin is recommended as first choice drug for antibiotic therapy, administration of cephalosporins may represent an alternative.1 The patient received correct ceftriaxone dosage, the duration of treatment was adequate, and pneumococcal β-lactam non-susceptibility is rare in Italy. The personal history was not suggestive of …