tbuckley/cabot-search huggingface dataset:
Prenatal Diagnosis and Detection of Carriers with DNA Probes in Duchenne's Muscular Dystrophy
Authors: Basil T. Darras, John F. Harper, Uta Francke
Journal: New England Journal of Medicine (1987)

We performed genetic analyses for the prenatal diagnosis of Duchenne's muscular dystrophy and detection of the carrier state in five families with seven pregnancies at risk for the disease. As genetic markers for the disorder, we used DNA-sequence polymorphisms detected with 12 different DNA probes derived from the vicinity of the Duchenne's muscular dystrophy locus or from within the gene, on the X chromosome. One male fetus of a proved carrier mother was predicted to be unaffected, and this was confirmed after birth. Another male fetus was predicted to be unaffected (probability, 95 percent or greater), although a crossover event had been identified in a region of the X chromosome thought to be distal to the Duchenne gene. Unfortunately, an elevated serum creatine kinase level after birth indicated that the infant had inherited the Duchenne mutation. Three male fetuses predicted to be affected with 66 percent or 95 percent probabilities were aborted, and the presence of the DNA-marker alleles was confirmed in fetal tissues. In one family, in which the maternal grandparents were unavailable, the initial genetic interpretation had to be revised after a second male fetus was analyzed with intragenic probes. Our experience suggests that despite the large number of intragenic and flanking DNA polymorphisms available, uncertainties often remain in the prenatal diagnosis of Duchenne's muscular dystrophy. Pitfalls are presented by the large size of the region in which Duchenne's mutations can occur. Crossover events in this region, which result in an exchange of DNA between two X chromosomes, can render DNA-marker studies inaccurate. Also, an autosomal recessive mutation can produce the same clinical picture. (N Engl J Med 1987; 316: 985–92.)
Plasma complement and histamine changes in atopic dermatitis*
Authors: JOHANNES RING, THOMAS SENTER, ROGER C. CORNELL, CARLOS M. ARROYAVE, ENG M. TAN
Journal: British Journal of Dermatology (1979)

Fifteen patients with atopic dermatitis were investigated to evaluate the total of complement and histamine. In five patients total serum complement haemolytic activity (CH50) was significantly decreased as was the haemolytic activity of complement components C2 (C2H50) and C3 (C3H50). By counter immunoelectrophoresis split products of C3 were detected. There was no evidence for alternative pathway activation or the presence of an activator of the alternative pathway. In three patients plasma histamine concentrations were elevated. The intensity of the complement and histamine changes observed seemed to be correlated to the severity of the disease.
Abstract 5510: Arginine Methylation Index as Integrated Quantification of Arginine Methylation Provides Stronger Independent Risk Prediction of Long-term Cardiovascular Events than Individual Methylated Arginine Metabolites
Authors: W. H. Wilson Tang, Zeneng Wang, Leslie Cho, Danielle M Brennan, Stanley L Hazen
Journal: Circulation (2008)

Background: The prognostic value of asymmetric dimethylarginine (ADMA) is attributed to its role as an endogenous inhibitor of nitric oxide synthases (NOS). The relationship of related post-translational modification products of arginine methylation and cardiovascular disease (CVD) risks is uncertain. Methods: Plasma was isolated from 1,011 subjects undergoing diagnostic cardiac catheterization, and future major adverse cardiac events (MACE, including myocardial infarction, stroke, and death) were investigated. Levels of ADMA, symmetric dimethylarginine (SDMA), and N-mono-methylarginine (MMA) were quantified by mass spectrometry, and their ratios [(ADMA+SDMA)/MMA], the arginine methylation index (Methy-I Arg ), were determined. Results: After adjusting for Framingham risk factors, CRP, and creatinine clearance, elevated (4th vs. 1st quartile) plasma levels of both SDMA [2.0-fold (95%CI, 1.3–3.1)] and ADMA [1.5-fold (95%CI, 1.00–2.4)] remained associated with higher prevalence of CVD, whereas elevated levels of MMA [0.56-fold (95%CI, 0.36–0.87)] were paradoxically associated with lower CVD. While elevated ADMA and SDMA levels remained significant predictors, MethyI Arg was the strongest independent predictor of incident MACE[2.4-fold (95%CI, 1.3 to 4.5)]. Conclusions: An integrated quantification of arginine methylation in the form of an “Arginine Methylation Index” provided the strongest independent risk prediction for incident major adverse cardiac events in stable patients undergoing elective cardiac evaluation, and significantly added to the prognostic utility of traditional risk factors.
Biology: Its Historical Development
Authors: William A. Check
Journal: JAMA (1980)

This slim book must be appreciated for what it is, an idiosyncratic presentation of selected highlights of medical biology with an emphasis on personalities. It is not an attempt to cover comprehensively the biological foundations of medicine. There is, for example, an extensive quotation from Bernard's description of his experiments on digestion and a detailed account of Banting and Best's discovery of insulin. However, the only reference to pituitary hormones reports the chemical synthesis in 1971 of human growth hormone. The development of antibiotics is well covered, but no mention is made of the basic biology or practical applications of cancer chemotherapy. Baumel notes the major milestones in infectious diseases and vaccine development but omits entirely any references to the success of smallpox vaccine. Instead there are four well-written pages on the history of polio vaccine. Unfortunately, this section includes a one-sided account of the controversy concerning the merits of
How valid is the European Food Safety Authority's assessment of sports drinks?
Authors: M. Thompson, C. Heneghan, D. Cohen
Journal: BMJ (2012)

Matthew Thompson , Carl Heneghan , and Deborah Cohen find worrying deficiencies in the evidence used to support the health claims made for sports drinks Back in January 2006, the European Union decided to adopt legislation to assess health and nutrition claims related to foods.1 The EU regulation aims to ensure that “claims made on food labelling and advertising regarding nutrition and health are meaningful and accurate, and can thereby help consumers in making healthy diet choices.” From the end of 2012, all claims used to market and advertise a product will need to be approved. The body responsible for evaluating the scientific basis of health claims is the European Food Safety Authority (EFSA). Their remit includes health claims related to the “roles of nutrients or substances in growth, development or functions of the body, psychological or behavioural functions, or slimming or weight control.”2 This includes claims related to sports supplements and sports drinks. After the legislation was passed, individual member states supplied the European Commission with a list of over 44 000 health claims. After duplicate or overlapping claims were removed, these were narrowed down to a final list of 4637 claims; EFSA has evaluated 2758 of them and has published scientific opinions on 341.1 EFSA uses five panels to evaluate the claims, one of which is the panel on dietetic products, nutrition, and allergies (NDA).3 Scientific evaluations “should be scientifically substantiated” by “taking into account the totality of the available scientific data, and by weighing the evidence,” in addition to reviewing the quality of the evidence. Evaluations are expected to show:
Combination of cladribine and cytarabine is effective for childhood acute myeloid leukemia: results of the St Jude AML97 trial
Authors: J E Rubnitz, K R Crews, S Pounds, S Yang, D Campana, V V Gandhi, S C Raimondi, J R Downing, B I Razzouk, C-H Pui, R C Ribeiro
Journal: Leukemia (2009)
OC-012 Endobarrier: A Bridge To Surgery In Morbidly Obese Patients?
Authors: S Chakravartty, D Sarma, A Miras, B Hayee, A Patel
Journal: Gut (2014)

<h3>Introduction</h3> Bariatric surgery is the best available intervention for weight reduction in morbidly obese patients. Although outcomes are not quite comparable to surgery, an endoscopically implanted device called the Endobarrier (Endoscopic duodenojejunal bypass liner) can lead to significant weight loss and improvement of glycaemic control when compared to either dietary caloric restriction or sham procedures. Surgery may be complicated in high-risk groups like patients with poorly controlled diabetes, multiple co-morbidities or a body mass index (BMI) &gt;50 kg/m<sup>2</sup>. We aimed to analyse the effect of an Endobarrier as an effective risk reducing tool in such high-risk patients prior to surgery. <h3>Methods</h3> All patients who underwent an Endobarrier insertion between January and October, 2013 were analysed. This included patients with poorly controlled diabetes, patients with a BMI &gt;50 kg/m<sup>2</sup> or those who were at a high risk of peri-operative complications based on obesity surgery mortality risk score (OSMRS: normal score 1–5). Patient outcomes which included length of stay, complications, weight loss, and impact on glycaemic control were prospectively observed. <h3>Results</h3> The Endobarrier was inserted in 18 patients (13 M) with median age of 53 years (range 32–68), median weight 159 kg (range 102–237), median BMI 54 kg/m<sup>2 </sup>(range 37–70.4) and a median OSMRS of 4 (mortality risk=2.4%). Device insertion was successful in all patients with no early removals required to date. The median length of stay was 1 day (range 1–5). There were no major complications apart from a single case of upper GI bleed 3 months later, which settled conservatively. Median weight over 3–6 months was now reduced to 147 kg (range 77–192) with median weight loss of 16.2 kg (6.9–41 kg) and 20.4 kg (9–47 kg) at 3 and 6 months respectively. Post-procedure, diabetic medication were either decreased (n = 9/11) or no longer required (n = 2/11) in diabetic patients and at 3 months HbA1C levels improved significantly from a median of 8.7 to 6.7% (p = 0.01). <h3>Conclusion</h3> Endobarrier may be used as a stepping stone to surgery in high risk patients by safely and effectively reducing weight and improving glycaemic control. <h3>Disclosure of Interest</h3> None Declared.
Asthma management pocket reference 2008*
Authors: C. Van Weel, E. D. Bateman, J. Bousquet, J. Reid, L. Grouse, T. Schermer, E. Valovirta, N. Zhong
Journal: Allergy (2008)

Asthma is one of the most common chronic airways diseases worldwide, and its prevalence is increasing. Family doctors (sometimes called ‘primary care physicians’ or ‘general practitioners’) are frequently an asthma patient’s first point of contact with healthcare systems. Disease management that follows evidence‐based practice guidelines yields better patient results, but such guidelines are often complicated and may recommend the use of resources not available in the family practice setting. A joint expert panel of the World Organization of Family Doctors (Wonca), International Primary Care Airways Group (IPAG) and the International Primary Care Respiratory Group (IPCRG) offers support to family doctors worldwide by distilling the globally accepted, evidence‐based recommendations from the Global Initiative for Asthma (GINA) into this brief reference guide. This guide provides tools intended to supplement a thorough history taking and the clinician’s professional judgment in order to provide the best possible care for patients with asthma. Diagnostic Questionnaires developed for children and adults specifically focus the physician’s attention on key symptoms and markers of asthma. When questionnaire responses suggest a diagnosis of asthma, Diagnosis Guides then lead the clinician through a series of investigations commonly available in primary care to support the diagnosis. In patients &gt;40 years who smoke, COPD is an important alternative diagnosis, and some key aspects of differential diagnosis are illuminated. According to GINA, the goal of asthma treatment is to achieve and maintain control of the disease symptoms long‐term. The physician must first assess the patient’s current level of asthma control, then treat asthma in a stepwise manner to achieve and maintain symptom control. Both of these aspects are summarized in figures included in this guide. Finally, the guide also presents a flow chart summarizing management of asthma exacerbations in the acute care setting, and a glossary of asthma medications to assist the clinician in making medication choices for each individual patient. Finally, many patients with asthma also have concomitant allergic rhinitis, and this must be checked. The World Organization of Family Doctors has been delegated by WHO as the group that will be taking primary responsibility for education about chronic respiratory diseases among primary care physicians globally. This document will be a major resource in this educational program.
Factitious Hyperamylasuria
Authors: J. Collier Robison, Norman Gitlin, Howard F. Morrelli, L. Jim Mann
Journal: New England Journal of Medicine (1982)

THE natural history of alcohol-induced acute pancreatitis is variable.1 2 3 4 The patient may ultimately have chronic pancreatitis with intractable abdominal pain requiring narcotic analgesics. We describe a patient who, after an initial bona fide bout of acute alcoholic pancreatitis, sought numerous hospital admissions on the pretext of having abdominal pain caused by pancreatitis, to obtain analgesic injections for his narcotic addiction. The means by which he successfully obtained hospitalization with the diagnosis of pancreatitis were abdominal pain and a high urinary amylase level, which was elevated as a result of contamination with his saliva.Case ReportThe patient was a 23-year-old . . .
Loss of Hair Related to Gentamicin Treatment
Authors: Hajime Yoshioka
Journal: JAMA (1970)

<h3>To the Editor:—</h3> The most serious toxic effects of gentamicin are hearing loss and vestibular symptoms due to damage of the eighth nerve. It has been advised that serum level should not exceed 10μg/ml. As gentamicin is excreted almost entirely by glomerular filtration, extreme caution should be paid when the antibiotic is given to patients with renal impairment. In the course of gentamicin treatment in a patient with uremia and Pseudomonas septicemia, loss of hair was observed together with visual and hearing problems. <h3>Report of a Case:—</h3> A 15-year-old boy was admitted to Hokkaido University Hospital in May 1968 because of progressive edema, hypertension, headache, and vomiting. Three months before admission, therapy was begun for chronic nephritis. All the time of admission, the blood pressure was 180/ 120 mm Hg. The daily urine volume was less than 200 ml, and a proteinuria of 1,240 mg/100 ml was present. The sediment
Development of the Artificial Heart and Lung Extracorporeal Blood Circuit
Authors: John H. Gibbon
Journal: JAMA (1968)

Many well-documented accounts of the development of the artificial heart and lung extracorporeal blood circuit have been published. There is no merit in duplicating these scholarly histories. However, a personal narration of the origin and development of the artificial heart and lung extracorporeal blood circuit, hereinafter referred to more briefly, but less elegantly, as the "heart-lung machine" may prove of interest. The idea of constructing an artificial heart-lung machine occurred to me in 1931, because of circumstances surrounding the death of a patient from a massive pulmonary embolism. I was then a research fellow in surgery at Harvard, working under the direction of Edward D. Churchill, MD, at the Massachusetts General Hospital. At 3 P.M. one day early in 1931 a patient, who had had her gallbladder removed 15 days before, had a massive pulmonary embolism heralded by a severe pain in the chest and accompanied by a fall in
Immune response to a new hepatitis B vaccine in healthcare workers who had not responded to standard vaccine: randomised double blind dose-response study
Authors: J. N Zuckerman, C. Sabin, F. M Craig, A Williams, A. J Zuckerman
Journal: BMJ (1997)

To evaluate the immunogenicity and reactogenicity of a new triple S recombinant hepatitis B vaccine in a cohort of healthy people in whom currently licensed hepatitis B vaccines had persistently not induced an immune response.Single centre, randomised, double blind, dose-response study.Research vaccine evaluation centre at a teaching hospital.100 healthcare workers aged 18-70 years with a history of failure to seroconvert after at least four doses of a licensed hepatitis B vaccine containing the S component.Each subject was randomly allocated two doses of 5, 10, 20, or 40 micrograms of a new hepatitis B vaccine two months apart.Immunogenicity of the four doses. Seroconversion and seroprotection were defined as an antibody tire > 10 IU/l and > 100 IU/l respectively against an international antibody standard.69 subjects seroconverted after a single dose of the vaccine. After the booster vaccination one other subject seroconverted, bringing the overall seroconversion rate to 70%. Fifteen subjects given 5 micrograms of vaccine, 19 given 10 micrograms, 16 given 20 micrograms, and 20 given 40 micrograms seroconverted. Seroconversion rates in the four antigen dose groups were 60% (15/25), 76% (19/25), 64% (16/25), and 80% (20/25). After the booster dose there was no significant dose-response effect on the overall seroconversion rate, although the small sample size meant that a clinically important dose-response could not be ruled out.A single dose of 20 micrograms of the vaccine was as effective as two doses of either 40 micrograms or 20 micrograms of this vaccine formulation in terms of seroconversion, seroprotection, and geometric mean titres.
Correlation versus linear regression
Authors: P. Sedgwick
Journal: BMJ (2013)

<h3>Summary</h3> <h3>Background</h3> Vaccines have greatly reduced the impact of COVID-19 globally. Unfortunately, evidence indicates that immunity wanes following vaccination, especially with the Delta variant (B.1.617.2). Protection against severe disease and death remain high, but protection against milder disease and infection have dropped significantly. A third "booster" dose of two-dose vaccines has been approved in several countries to individuals at higher risk of severe disease to protect those individuals, but the benefit to boosting immunity in younger healthy individuals and the effects on transmission are less clear. <h3>Methods</h3> Here we use relationships between neutralizing antibody titers and vaccine protection against infection and transmission, combined with data on waning and boosting of neutralizing antibody titers to examine the impact of a third dose of the Pfizer vaccine on infection and transmission and its impact on the pathogen effective reproductive number R<sub>t</sub>. <h3>Findings</h3> Eight months of waning reduced protection of the Pfizer vaccine against all infections from 80.0% (95% CI: 77% to 83%) to 60.4% (95% CI: 53% to 67%); a third dose (which increased neutralizing antibody titers 25.9-fold relative to levels after 8 months of waning) increased protection to 87.2% (95% CI: 83% to 91%). Increased protection against infection and transmission from third doses reduced R<sub>t</sub> by 21% to 66% depending on vaccine coverage and previous infection and reduced R<sub>t</sub> below 1 when vaccination coverage was high or contact rates were well below pre-pandemic levels. <h3>Interpretation</h3> A third dose of the Pfizer vaccine could reduce transmission of SARS-CoV-2, which would reduce infection in unvaccinated individuals and breakthrough infections in vaccinated individuals. While vaccination of unvaccinated individuals, especially in developing countries, would be more effective for reducing disease than providing a third dose to vaccinated individuals, the benefit of a third dose in reducing transmission is sizeable and increases with vaccine coverage and contact rates among individuals. <h3>Funding</h3> California Department of Health, National Science Foundation
Angiotensin Receptor Blockers
Authors: Steven G. Terra
Journal: Circulation (2003)

A ngiotensin receptor blockers (also known as ARBs) are a class of medications that are widely used by patients with high blood pressure, kidney disease, and heart failure.This article provides information for patients who receive this type of medication.The Table lists the brand and chemical names for the angiotensin receptor blockers that are available in the United States.
Magnification with chromoendoscopy is the most reliable method to determine whether colorectal lesions are neoplastic or not
Authors: K.-I. Fu, S. Kato, Y. Sano, T. Fujii
Journal: Endoscopy (2007)

We have read the article of Sonwalkar et al. with great interest [1]. They conducted a noncomparative retrospective study to assess the differential diagnostic accuracy of nonmagnifying chromoendoscopy for pit pattern analysis, and concluded that nonmagnifying chromoendoscopy can be used to distinguish neoplastic from nonneoplastic colonic polyps.
1073 ITMN-191/R7227 MONOTHERAPY IN CHRONIC HCV PATIENTS REDUCES PLASMA CONCENTRATIONS OF IP-10 AND NEOPTERIN
Authors: C.J. Schaefer, K. Kossen, S.R. Lim, X. Qin, J. Lin, L. Pan, W.Z. Bradford, S.D. Seiwert
Journal: Journal of Hepatology (2010)
Systemic and Local Corticosteroid Therapy in Ulcerative Colitis
Authors: S. C. Truelove
Journal: BMJ (1960)

FORCED EXPIRATORY VOLUMES B ' ~~~~~~~~~~~~~~~~~~~~~~~~Mm Between 9 a.m. and 10 p.m. the pattern of change was different in each subject.The F.E.V. of the mildly disabled patients and the F.V.C. of some of the severely disabled patients varied in a regular manner.Other changes appeared random (Figs. 1 and2).A number of patients showed a distinct fall in the F.V.C. after the midday meal.
Family histories of diabetes mellitus in young African and Indian diabetes.
Authors: M A Omar, A C Asmal
Journal: BMJ (1983)

1983 iliac revascularisation.A bifurcation graft into the femoral arteries might have relieved the claudication and made the sciatica worse in this case by further diverting blood away from the pelvis and into the legs.We suggest that clinicians should be alerted to the diagnosis in a patient with pain of sciatic distribution related to exercise; poor resting pulses and reflexes may be further reduced after exercise, while a bruit in the region of the groin will be increased.
Should fertile people have access to in vitro fertilisation?
Authors: K Dawson, P Singer
Journal: BMJ (1990)

Some existing laws and some proposed legislation regulating the practice of in vitro fertilization (IVF) limit its availability to infertile couples. Dawson and Singer question whether it is reasonable to so restrict access to IVF, and examine some of the medical and social circumstances in which IVF and the related procedures of embryo freezing, embryo biopsy, and embryo transfer might be used by the fertile. They argue that while society may object to some uses of IVF by the fertile, the principle of governmental non-interference with personal liberties except to prevent harm mitigate against legally restricting IVF to the infertile.