tbuckley/cabot-search huggingface dataset:
Mendelian Randomization
Authors: George Thanassoulis, Christopher J. O’Donnell
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
Abstract 3160: Expression of apoptosis-regulating miRNAs and target mRNAs in oral squamous cell carcinoma
Authors: Cláudia M. Coutinho-Camillo, Silvia V. Lourenço, Ines N. Nishimoto, Luiz P. Kowalski, Fernando A. Soares
Journal: Cancer Research (2012)

Abstract Apoptosis is a genetically programmed form of cell death, which primarily functions to eliminate senescent or altered cells that are useless or harmful for the multicellular organism. In contrast, aberrations of the apoptotic mechanisms that cause excessive or deficient programmed cell death have been linked to a wide array of pathologic conditions. MicroRNAs (miRNAs) are approximately 22 nucleotide non-coding RNA molecules that regulate gene expression post-transcriptionally and recent studies have indicated the dysregulation of miRNAs involved in apoptosis. In this study, using Real Time RT-PCR we have analyzed the expression of apoptosis-regulating miRNAs (miR-15a, miR-16, miR-29a, miR-34a, miR-17-5p, miR20a, miR21) in a series of 20 oral squamous cell carcinoma samples and a pool of 5 normal oral mucosa tissue samples. Using TargetScan algorithms, target genes of these miRNAs were identified and the expression of mRNA transcripts of these target genes was also evaluated (Bcl-2, Caspase-2, Caspase-7, Bid, SMAC/DIABLO) in a series of 50 oral squamous cell carcinoma samples and a pool of 10 normal oral mucosa tissue samples. Considering up- or down-regulation as a 2-fold difference in expression relative to the normal tissue, we observed down-regulation of miR-15a, miR29a and miR34a in 50%, 75% and 70% of the samples, respectively. Normal-like expression was observed for miR-16, miR-17-5p, miR-20a and miR-21 in 80%, 75%, 90% and 60% of the samples, respectively. Down-regulation of the BCL-2 transcripts was observed in 60% of the samples and normal-like expression was observed for BID, CASPASE-2, CASPASE-7 and SMAC/DIABLO transcripts in 66%, 82%, 68% and 60% of the samples, respectively. Expression of BID, CASPASE-2 and CASPASE-7 might be regulated by miR-17-5p and miR-20a and we found no alteration in expression of both mRNAs and miRNAs. Expression of BCL-2 might be regulated by miR-15a, miR-16, miR-21 and miR-34. We found down-regulation of BCL-2 transcripts and miRNAs-15a and -34, suggesting that other mechanisms might be involved in the regulation of BCL-2. Expression of SMAC/DIABLO might be regulated by miR-29 and we found normal-like expression of SMAC/DIABLO transcripts and down-regulation of miRNA-29 also suggesting that other mechanisms might be involved in the regulation of SMAC/DIABLO. Our study provides evidence of alterations in the expression of apoptosis-regulating miRNAs and alterations in the expression of genes involved in the apoptotic pathway demonstrating that regulation of apoptosis is an important feature in OSCC behavior. FAPESP research grants 98/14335-2 and 07/50608-4. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 103rd Annual Meeting of the American Association for Cancer Research; 2012 Mar 31-Apr 4; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2012;72(8 Suppl):Abstract nr 3160. doi:1538-7445.AM2012-3160
Lessons from People with Nonprogressive HIV Infection
Authors: David Baltimore
Journal: New England Journal of Medicine (1995)

Infectious diseases can be extremely variable in their manifestations, but human immunodeficiency virus (HIV) infection is notorious for its protean manifestations. One of these, the absence of any apparent progression of disease over a decade or more, is particularly intriguing. The average time from HIV infection to death is 10 years, but clinical and immunologic decline is generally evident much earlier. About 5 percent of infected people are characterized as having nonprogressive infection because they remain healthy and do not have the declining CD4+ lymphocyte counts that are evident in people with progressive disease.1 Although we remain uncertain of their . . .
Comparative assessment of enzyme-linked immunosorbent assay and Western blot for the diagnosis of toxocariasis in patients with skin disorders
Authors: A-P. Bellanger, P. Humbert, B. Gavignet, A.D. Deschaseaux, C. Barisien, S. Roussel, L. Millon, F. Aubin, R. Piarroux
Journal: British Journal of Dermatology (2009)

Background The link between various chronic skin disorders and toxocariasis was previously demonstrated by case reports and several case–control studies. However, these previous studies were based only on the Toxocara canis excretory‐secretory–enzyme‐linked immunosorbent assay (TES–ELISA) serological technique, which is not specific due to cross‐reactivity with parasites of the genera Anisakis or Ascaris. Immunoblot analysis is highly specific and can detect very low levels of Toxocara antibodies. Therefore, this technique may be useful in the identification of Toxocara infection in patients with chronic skin disorders. Objectives Because urticaria and pruritus/prurigo are skin conditions previously associated with toxocariasis, we carried out a prospective study using both TES–ELISA and Toxocara Western blot on 113 patients with either chronic urticaria (n =84) or chronic pruritus (n =29). Methods Patients were matched with controls according to gender, age and residence location (rural or urban area). Data were analysed using a Mantel–Haenszel χ2 test. Results The proportion of positive TES–ELISA results was not significantly different for patients with chronic skin disorders (urticaria or pruritus/prurigo) from that of control subjects. However, the proportion of positive immunoblot results was significantly higher for patients with chronic urticaria than for control subjects (P =0·009). Conclusions Our study demonstrates the need to perform Western blotting immunodiagnosis, whatever the TES–ELISA result, to improve diagnosis of human toxocariasis in patients with chronic urticaria caused by Toxocara infection.
Collagen-Vascular Diseases: Systemic Lupus Erythematosus, Acute Dermatomyositis-Polymyositis, Progressive Systemic Sclerosis, Polyarteritis Nodosa
Authors: Thomas G. Benedek
Journal: JAMA (1975)

Dr. Talbott, in his numerous publications, has earned a reputation for consciseness with lucidity, and in the present volume he again displays his felicitous style. He has "attempted to be thorough in discussing the clinical features, roentgenographic findings and pathologic changes shown by the light microscope, ingredients which all contribute to the clinical understanding of the diseases." This monograph is unusual, for it is a second edition published 18 years after the first. His goal is largely achieved in an essentially new book that, because of its numerous illustrations, is almost an atlas of the four diseases considered: systemic lupus erythematosus, polymyositis, progressive systemic sclerosis, and polyarteritis. Half of the illustrations are photomicrographs, especially well reproduced; one third are roentgenograms; and the remainder, clinical photographs. Although the extensive research of recent years, particularly in immunology, is not reviewed in detail, it is by no means ignored. Each chapter has its
Medical and Biological Problems of Space Flight: Proceedings of a Conference Held in Nassau, the Bahamas, November, 1961.
Authors: Eugene P. Cassidy
Journal: JAMA (1963)

To workers in the field this book will probably tell little that is new, but for the casual reader it is a fascinating collection. Although occasionally quite technical, it vividly conveys the complexity of space flights with their medical relationships, allowing the reader to share in the excitement of the venture. At first this book appears to be a collection of random papers given at a somewhat disorganized symposium. It contains serious scientific work ranging from a device for simulating weightlessness, through maintenance of cardiovascular adaptability during prolonged weightlessness, cosmic ray effects, water recovery systems, to the food use of the alga<i>Chlorella</i>. Also included are interesting articles on the history and development of space vehicles, remote monitoring of medical data, and the possible problems of manned space flight. Apparent throughout is the authors' commitment to this great adventure of our times, and the historical awareness of its import. Creating
Familial Gastrointestinal Stromal Tumors and Germ-Line Mutations
Authors: Sarah R McWhinney, Barbara Pasini, Constantine A Stratakis
Journal: New England Journal of Medicine (2007)

Familial Gastrointestinal Stromal Tumors and Germ-Line MutationsTo the Editor: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1. 1 We have described seven male and five female patients (median age, 23 years) from five unrelated families who had both gastrointestinal stromal tumors and paragangliomas.Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. 2 This condition has been referred to as "the dyad of paraganglioma and gastrointestinal stromal tumors" or the "Carney-Stratakis syndrome" (or "Carney-Stratakis dyad"). 3Germ-line mutations of the genes encoding succinate dehydrogenase subunits B, C, and D (SDHB, SDHC, and SDHD) have been described in inherited paraganglioma and pheochromocytoma 4 but not in familial gastrointestinal tumors.The family history of a kindred with multiple paragangliomas and a germ-line SDHB mutation included a person with a gastrointestinal stromal tumor, 5 but neither blood nor tissue specimens from this patient were studied for SDHB abnormalities.We identified six germ-line SDHB, SDHC, and SDHD mutations in patients with the dyad (Fig. 1).Gastrointestinal stromal tumors from the patients showed allelic losses around the chromosomal loci of the succinate dehydrogenase subunit.The patients did not have mutations of KIT or the gene for platelet-derived growth factor receptor alpha (PDGFRA), which have been associated with gastrointestinal tumors. 1 We conclude that familial gastrointestinal stromal tumors may be caused by mutations of the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD, and abdominal paragangliomas associated with gastrointestinal tumors may be caused uniquely by SDHC mutations.
Successful treatment for gastro-intestinal bleeding of Osler-Weber-Rendu disease by argon plasma coagulation using double-balloon enteroscopy
Authors: Y. Sato, T. Takayama, D. Takahari, T. Sagawa, T. Sato, S. Abe, T. Kogawa, T. Nikaido, K. Miyanishi, S. Takahashi, J. Kato, Y. Niitsu
Journal: Endoscopy (2008)

Osler–Weber–Rendu (OWR) disease is an autosomal dominant disorder characterized by aberrant vascular development in the skin, mucous membranes, and visceral organs [1]. In this disease, gastrointestinal bleeding is one of the most critical symptoms. However, no effective therapy is available for this disease. Argon plasma coagulation (APC) is reportedly an effective treatment for the gastrointestinal bleeding, but to date only APC treatment of bleeding from the stomach, duodenum, and colon has been reported. However, patients with OWR usually have angiodysplasia in the small intestine [2], an area that double-balloon enteroscopy (DBE) has been shown to be clinically useful for reaching a diagnosis as well as providing therapy [3]. We report a case of OWR disease in which angiodysplasia of the small intestine was successfully eradicated by APC with DBE.
Epidemiology of Alzheimer's presenile dementia in Scotland, 1974-88.
Authors: G McGonigal, B Thomas, C McQuade, J M Starr, W J MacLennan, L J Whalley
Journal: BMJ (1993)

OBJECTIVE--To describe the epidemiology of presenile Alzheimer9s disease in Scotland from 1974 to 1988. DESIGN--Retrospective review of hospital records of patients aged less than 73 years admitted to psychiatric hospital with various diagnoses of dementia. Diagnoses were classified by National Institute for Communicative Disorders and Stroke and Alzheimer9s Disease and Related Disorders Association Criteria and the Hachinski score. Completeness of the study sample was evaluated by scrutiny of neurology outpatient and general hospital records. SETTING--All general psychiatric hospitals in Scotland. SUBJECTS--All patients with onset of dementia aged 40-64. MAIN OUTCOME MEASURES--Probable and broad Alzheimer9s disease, sex of patient, age at onset. RESULTS--5874 psychiatric hospital records, 129 neurology outpatient records, and 89 records from non-psychiatric hospitals were examined. 317 patients met criteria for probable Alzheimer9s disease, 569 met criteria for broad Alzheimer9s disease, and 267 met those for multi-infarct dementia. Minimal incidences per 100,000 population aged 40-64 years were 22.6 (95% confidence interval, 20.2 to 25.2) and 40.5 (38.9 to 42.3) per 100,000 for probable and broad Alzheimer9s disease. In the 1981 census year the annual incidence of probable Alzheimer9s disease was 1.6 (1.0 to 2.6). Women were at greater risk with incidence rates for probable Alzheimer9s disease of 28.2 (24.5 to 32.4) per 100,000 compared with 16.5 (13.8 to 19.8) per 100,000 for men. The incidence per 100,000 for multi-infarct dementia was greater in men (25.1, 23.3 to 27.1) than women (13.4, 12.1 to 14.8). CONCLUSION--Female sex seems to be positively associated with development of Alzheimer9s disease before age 65 years.
Plasma Phospholipid Fatty Acid Concentration and Incident Coronary Heart Disease in Men and Women: The EPIC-Norfolk Prospective Study
Authors: Kay-Tee Khaw, Marlin D. Friesen, Elio Riboli, Robert Luben, Nicholas Wareham
Journal: PLoS Medicine (2012)

The lack of association found in several cohort studies between dietary saturated fat and coronary heart disease (CHD) risk has renewed debate over the link between dietary fats and CHD.We assessed the relationship between plasma phospholipid fatty acid (PFA) concentration and incident CHD using a nested case control design within a prospective study (EPIC-Norfolk) of 25,639 individuals aged 40-79 years examined in 1993-1997 and followed up to 2009. Plasma PFA concentrations were measured by gas chromatography in baseline samples retrieved from frozen storage. In 2,424 men and women with incident CHD compared with 4,930 controls alive and free of cardiovascular disease, mean follow-up 13 years, saturated PFA (14:0, 16:0,18:0) plasma concentrations were significantly associated with increased CHD risk (odds ratio [OR] 1.75, 95% CI 1.27-2.41, p<0.0001), in top compared to bottom quartiles (Q), and omega-6 polyunsaturated PFA concentrations were inversely related (OR 0.77, 0.60-0.99, p<0.05) after adjusting for age, sex, body mass index, blood pressure, smoking, alcohol intake, plasma vitamin C, social class, education, and other PFAs. Monounsaturated PFA, omega-3 PFA, and trans PFA concentrations were not significantly associated with CHD. Odd chain PFA (15:0, 17:0) concentrations were significantly inversely associated with CHD (OR 0.73, 0.59-0.91, p<0.001, Q4 versus Q1). Within families of saturated PFA or polyunsaturated PFA, significantly heterogeneous relationships with CHD were observed for individual fatty acids.In this study, plasma concentrations of even chain saturated PFA were found to be positively and omega-6 polyunsaturated PFA inversely related to subsequent coronary heart disease risk. These findings are consistent with accumulating evidence suggesting a protective role of omega-6 fats substituting for saturated fats for CHD prevention.
Environmental Lead Exposure and Attention Deficit/Hyperactivity Disorder Symptom Domains in a Community Sample of South Korean School-Age Children
Authors: Soon-Beom Hong, Mee-Hyang Im, Jae-Won Kim, Eun-Jin Park, Min-Sup Shin, Boong-Nyun Kim, Hee-Jeong Yoo, In-Hee Cho, Soo-Young Bhang, Yun-Chul Hong, Soo-Churl Cho
Journal: Environmental Health Perspectives (2014)

Low-level environmental exposure to lead has been associated with both reduced intelligence and symptoms of attention deficit/hyperactivity disorder (ADHD). However, few studies have estimated the association of lead and intelligence independent of ADHD, and it is not clear from previous studies whether lead is associated with both inattention and impulsivity ADHD symptoms.We estimated mutually adjusted associations of environmental lead exposure with both intelligence and ADHD symptoms, and associations between lead and specific ADHD-related domains.Blood lead concentrations were measured in a general population of 1,001 children 8-11 years of age. We used multivariable linear regression models to estimate associations of blood lead concentrations with IQ scores, teacher and parent ratings of ADHD symptoms, and measures of inattention and impulsivity. Models were adjusted for demographic variables and other environmental exposures (blood levels of mercury and manganese, urinary concentrations of cotinine, phthalate metabolites, and bisphenol A).Associations of blood lead with lower IQ and higher impulsivity were robust to adjustment for a variety of covariates. When adjusted for demographic characteristics, other environmental exposures, and ADHD symptoms or IQ, a 10-fold increase in blood lead concentration was associated with lower Full-Scale IQ (-7.23; 95% CI: -13.39, -1.07) and higher parent- and teacher-rated hyperactivity/impulsivity scores (ADHD Rating Scale, 1.99; 95% CI: 0.17, 3.81 and 3.66; 95% CI: 1.18, 6.13, respectively) and commission errors (Continuous Performance Test, 12.27; 95% CI: -0.08, 24.62). Blood lead was not significantly associated with inattention in adjusted models.Low-level lead exposure was adversely associated with intelligence in school-age children independent of ADHD, and environmental lead exposure was selectively associated with impulsivity among the clinical features of ADHD.
Regional cooling of the extracorporeal blood circuit: a novel anticoagulation approach for renal replacement therapy?
Authors: Ales Krouzecky, Jiri Chvojka, Roman Sykora, Jaroslav Radej, Thomas Karvunidis, Ivan Novak, Jiri Ruzicka, Zuzana Petrankova, Jiri Benes, Lukas Bolek, Martin Matejovic
Journal: Intensive Care Medicine (2008)

To test the hypothesis that cooling of blood in the extracorporeal circuit of continuous veno-venous hemofiltration (CVVH) enables to realize the procedure without the need of anticoagulation.Experimental animal study.We developed the device for selective cooling of extracorporeal circuit (20 degrees C) allowing blood rewarming (38 degrees C) just before returning into the body. Twelve anesthetized and ventilated pigs were randomized to receive either 6 h of CVVH with application of this device (COOL; n = 6) or without it (CONTR; n = 6).Before the procedure and in 15, 60, 180, 360 min after starting hemofiltration variables related to: (1) circuit patency [time to clotting (TC), number of alarm-triggered pump stopping (AS), venous and transmembranous circuit pressures (VP, TMP)], (2) coagulation status in the extracorporeal circuit [thrombin-antithrombin complexes (TAT(circ)), thromboelastography (TEG)] and (3) animal status (hemodynamics, hemolysis and biochemistry) were assessed.The patency of all circuits treated with selective cooling was well maintained within the observation period. By contrast, five of six sessions were prematurely clotted in the untreated group. As a result, the number of AS was significantly higher in the CONTR group. In-circuit thrombus generation in CONTR group was associated with a markedly increasing TAT(circ). TEG performed at 180 min of the procedure revealed a tendency to a prolonged initial clotting time and a significant decrease in clotting rate of in-circuit blood in the COOL group. No signs of repeated cooling/rewarming-induced hemolysis were observed in animals treated with "hypothermic circuit" CVVH.In this porcine model, regional extracorporeal blood cooling proved effective in preventing in-circuit clotting without the need to use any other anticoagulant.
The effects of ouabain on induction of atrioventricular nodal re-entrant paroxysmal supraventricular tachycardia.
Authors: D Wu, C Wyndham, F Amat-y-Leon, P Denes, R C Dhingra, K M Rosen
Journal: Circulation (1975)

Electrophysiological studies utilizing His bundle recordings and atrial extra-stimulus technique were performed in 17 patients (pts) with documented paroxysmal supraventricular tachycardia (PSVT) before and after 0.01 mg/kg, i.v., ouabain. Before ouabaine, echozones(EZ) were demonstrated in 11 patients. After ouabain, EZ were abolished in two, decreased in five, unchanged in three, and increased in one. In one patient, EZ was demonstrated only after ouabain. Eleven patients could sustain PSVT before ouabain; after ouabain, only six patients could sustain PSVT. Analysis of A1-A2, H1-H2 curves revealed 11 patients with discontinous (dual pathway) and six patients with smooth conduction curves. In dual pathway patients, both the fast and slow pathway curves were shifted rightward and upward after ouabain. The changes in EZ were dependent upon the relative rightward shifts of the two pathways. In patients with smooth curves, EZ tended to shift rightward with a critical A-H being achieved at longer A1-A2 intervals after ouabain. In conclusion, the effects of ouabain on PSVT were variable. Beneficial effects included abolition or decrease of EZ and loss of the ability to sustain PSVT. Potentially deleterious effects included widening or new de-elopment of EZ.
Next stage of NHS reforms come under fire
Authors: C. White
Journal: BMJ (2003)

The government's plans to extend the number of foundation trust hospitals and boost the throughput of surgical cases in “fast track” diagnostic and treatment centres have renewed fears that the schemes are being implemented too quickly, threatening to create more problems than they solve.

Prime Minister Tony Blair announced last week that all three-star hospitals in England would be invited to apply for foundation trust status, bringing the number eligible to 63. Twenty five hospitals are currently applying, a process which should be completed by April 2004. The government anticipates the second wave will join them by …