tbuckley/cabot-search huggingface dataset:
Abstract 16717: Human Gene Copy Number Spectra Analysis in Congenital Heart Malformations
Authors: Aoy Tomita-Mitchell, Donna K Mahnke, Craig A Struble, Maureen E Tuffnell, Mats Hidestrand, Alexander J Stoddard, Susan Harris, Mary A Goetsch, Rachel B Lorier, Pippa M Simpson, David P Bick, Ulrich Broeckel, Andrew N Pelech, James S Tweddell, Michael E Mitchell
Journal: Circulation (2011)

Aim: To visualize copy number associations and quantify relative risk of Copy Number Variants (CNVs) in 100 well-defined congenital heart disease (CHD) risk genes identified from literature sources. Method: CNVs in subjects with congenital heart malformations (n=741) and phenotyped in accordance with the European Paediatric Cardiac Code were compared to the frequencies of CNVs present in a control population of subjects with coronary artery disease (n=880). CNV gains (≥ 200 kb) and losses (≥ 100 kb) were determined using the Affymetrix 6.0 Gene Chip and confirmed with TaqMan copy number assays. In addition, each gene was tested using a two proportions z-test approach to determine if the gene frequency was significantly different in CHD vs control. To quantify the effect of observed CNVs in the CHD population, we collapsed the set of rare individual CNVs into a single group to test the collective frequency difference between cases and controls by adapting a previously described Cohort Allelic Sums Test (CAST). Results: The following phenotypes showed a significant enrichment of gains and losses in the CHD population: Aortic Stenosis, Coarctation of the Aorta, Ebstein's Anomaly, Tetralogy of Fallot, Truncus Arteriosus and Ventricular Septal Defect. The CNV percentage was increased in CHD subjects in the following genes (p&lt;0.05 with a Bonferroni correction): Losses: FKBP6(-), ELN(s), GTF2IRD1(-), SOX7(-), GATA4(ns), NOTCH1(ns), MYH11(ns), SALL4(s), TBX1(s), CRKL(-), MAPK1(-); Gains: PRKAB2(-), FMO5(-), CHD1L(-), BCL9(-), ACP6(-), GJA5(ns), NPHP3(s), FOXL2(s), SEMA5A(-), NSD1(s), HOXA1(s), TBX20(ns), SOX7(-), GATA4(ns), HRAS(s), GATA6(ns), RUNX1(s), MAPK1(-), BCOR(s), ATRX(s), GPC3(s), ZIC3(ns), FLNA(s) where s is syndromic, ns is non-syndromic and (-) is not available on the CHD WIKI website ( http://www.chearted.eu ). The approach rapidly identified common, cytogenetically visible abnormalities (i.e. TBX1 in 22q11.2 deletion syndrome, n=30, and RUNX1 in Trisomy 21, n=66). Conclusion: This is the first study to establish a copy number spectrum in a CHD population. We conclude that the CAST approach shows promise for evaluating qualitative outcomes and statistical precision of prior studies which have focused on CNVs in CHD and other diseases.
Abstract 10953: Physician Accuracy in Interpreting Potential ST-Segment Elevation Myocardial Infarction Electrocardiograms in the Absence of Clinical Context
Authors: James M McCabe, Ehrin J Armstrong, Ivy Ku, Prashant D Bhave, Kurt S Hoffmayer, Scott Kinlay, Gregory M Marcus, John C Stein, Peter Ganz
Journal: Circulation (2011)

Background: There is increasing focus on pre-hospital diagnosis of ST elevation myocardial infarction (STEMI) from ECGs transmitted electronically, often in the absence of context. However, the dia...
Methods for sentinel virological surveillance of influenza in Europe - an 18-country survey
Authors: T J Meerhoff, A Meijer, W J Paget
Journal: Eurosurveillance (2004)

The European Influenza Surveillance Scheme (EISS) is based on an integrated clinical and virological surveillance model. To assess the comparability of virological data, a questionnaire was sent to participants in June 2002 enquiring about specimen collection, laboratory diagnosis of influenza and tests for other respiratory infections. The results showed differences, but also uniformity in virological data collection methods. Similarities were reported for the specimen collection procedures; the type of swab and the transport conditions were comparable. The diagnostic methods were diverse; differences were seen in the (sub)typing methods, with PCR used most often in western countries. The findings will be helpful for the interpretation of virological data collected by sentinel physicians and for the creation of a Community Network of Reference Laboratories for Human Influenza in Europe. Important objectives of the Community Network include the harmonisation of virological methods and the application of quality assurance assessments for the national reference laboratories.
Tabulae biologicae periodicae
Authors: Wilhelm Junk, Carl Oppenheimer, L. Pincussen
Journal: JAMA (1934)

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 18574: Mitochondrial Reprogramming By Camkiiδ Underlies Gq-induced Cardiomyopathy
Authors: B. Daan Westenbrink, Haiyun Ling, Shigeki Miyamoto, Kirk Peterson, Ajit Divakaruni, Scott Matkovich, Gerald W Dorn, Joan H. Brown
Journal: Circulation (2012)

Background: Sustained activation of Gq signaling causes pressure overload hypertrophy, that inevitably decompensates as dilated cardiomyopathy. These molecular processes are recapitulated by cardiac overexpression of Gq (Gq-TG). Ca(2+)/calmodulin-dependent protein kinase II delta (CaMKIIδ) may be a crucial regulator of this maladaptive response and we thus sought to determine if CaMKIIδ is required for the pathologic transformation of cardiac hypertrophy. Methods: Gq-TG mice were crossbred with CaMKIIδ knockout (CaMKIIδ-KO) mice to generate KO/TG mice. In addition, we studied the role of CaMKIIδ in the response of neonatal rat ventricular myocytes (NRVM) to constitutively activated Gαq (Ad-Q209L). Results: CaMKII activity was increased in hearts from Gαq transgenic mice and in NRVM infected with Ad-Q209L. CaMKIIδ deletion did not affect Gαq-induced hypertrophy in vitro and in vivo, but did result in a significant improvement of left ventricular function and reduced cardiac fibrosis. Deep RNA sequencing revealed marked reprogramming of mitochondrial genes in Gq-TG mice. Intriguingly, 41% of these mitochondrial mRNAs were normalized by CaMKIIδ deletion, including the ROS modulator uncoupling protein 3 (UCP3). Hearts of Gq transgenics showed increased oxidative stress, mitochondrial protein oxidation and a reduced mitochondrial respiration, all of which were normalized in KO/TG mice. The ability of Q209L to induce mitochondrial oxidative stress, mitochondrial membrane depolarization and cell death in NRVMs was also attenuated by CaMKII inhibition. UCP3 protein levels were reduced by Q209L and normalized with CaMKII inhibition. The protective effects of CaMKIIδ-inhibition on mitochondrial ROS production and cell death were abrogated by knock down of UCP3, consistent with a link between CaMKIIδ-induced repression of UCP3 and Gαq-induced ROS production. Conclusion: Mitochondrial reprogramming by CaMKIIδ is critically involved in the development of Gq-dependent cardiomyopathy, mediated in part by increased mitochondrial oxidative stress linked to transcriptional repression of UCP3.
IDENTIFICATION OF NOVEL HEPATITIS B VIRUS (HBV) T-CELL EPITOPES AND ESCAPE MUTATIONS IN ASIAN INDIVIDUALS WITH CHRONIC HBV INFECTION USING A POPULATION BASED APPROACH
Authors: Christopher P Desmond, Silvana Gaudieri, Ian James, Katja Pfafferott, Abha Chopra, George K Lau, Stephen Locarnini, Peter A Revill, Caroline F Day, Sarah Chivers, Adam Gordon, Scott Bowden, Anna Ayres, Paul V Desmond, Alex J Thompson, Stuart K Roberts, Simon A Mallal, Sharon R Lewin
Journal: Hepatology (2009)
Characterization of Adult α- and β-Globin Genes in the Zebrafish
Authors: Fung-Yee Chan, Judith Robinson, Alison Brownlie, Ramesh A. Shivdasani, Adriana Donovan, Carlos Brugnara, John Kim, Bing-Chuen Lau, H. Ewa Witkowska, Leonard I. Zon
Journal: Blood (1997)
Heart Failure Complicating Non–ST-Segment Elevation Acute Coronary Syndrome
Authors: Maria Cecilia Bahit, Renato D. Lopes, Robert M. Clare, L. Kristin Newby, Karen S. Pieper, Frans Van de Werf, Paul W. Armstrong, Kenneth W. Mahaffey, Robert A. Harrington, Rafael Diaz, E. Magnus Ohman, Harvey D. White, Stefan James, Christopher B. Granger
Journal: JACC Heart Failure (2013)
Medicine and multimedia: Randomised Controlled Trials: A User’s Guide
Authors: John-Paul Vader
Journal: BMJ (1998)

Alejandro R Jadad

The book’s subtitle sets the tone. Born of the author’s struggle to find, understand, interpret, and use randomised controlled trials, this book is the fruit of years of jotting down questions and searching (often in vain) for answers. It is a concise but complete guide to randomised controlled trials, intended for the long list of their potential users.

Jadad leads us through the basics of randomised controlled trials, the sources of bias at all stages, the tools for assessing the quality of trials, the essentials of reporting and interpreting them, and how they fit into the overall picture of information used to make decisions. Using as a template the CONSORT statement, developed to improve the quality of reporting of trials, the author describes the essentials that users need to consider in interpreting trial results.

Particularly refreshing is the author’s clear exposure of the pitfalls of randomised controlled trials and his warnings to those overzealous converts to the doctrine of evidence based medicine who would put their total faith in nothing but randomised controlled trials. As a leader in the field of analysing, studying, and using such trials, Jadad, in simple and forceful language, brings home the absolute necessity of randomised controlled trials for rational decision making. Yet he also convincingly demonstrates their limits and the barriers to their effective use and describes other sources of information that must be taken into account when making healthcare decisions.

Breaking the book into short and easily digestible chapters makes it all the more user friendly, as does the author’s informal style of writing. Jadad’s book is unique. A visit to the library and a search on the internet of the “Earth’s biggest bookstore” revealed only titles that were at least twice the volume, and twice the price. None address the specific needs of users of randomised controlled trials as Jadad’s book does.

This is not to say that “doers” will not find ample matter for reflection. Quite to the contrary. All are well served by the author’s successful resistance of the temptation to write a general book about randomised controlled trials. As it is, the list of current, would be, and should be users of controlled trials is so inclusive that I am not sure the book will meet the needs of all of them. At present, the main users of randomised controlled trials are busy clinicians trying to practice evidence based health care and those developing guidelines to assist them. They will benefit most from the book. I hope that patients, their relatives, politicians, and healthcare financing agencies will also come to lean on this enjoyable and thought provoking book.
Abstract 14941: Increased Prevalence of Pulmonary Artery Hypertension and Deterioration of Right Ventricular Function after Chronic Right Ventricular Apical Pacing
Authors: Jun-Min Xie, Fang Fang, Qing Zhang, Josephy Yat-Sun Chan, Gabriel Kwok-Wai Yip, Jeffrey Wing-Hong Fung, John E Sanderson, Yat-Yin Lam, Cheuk-Man Yu
Journal: Circulation (2010)

Purpose: There is little information on the impact of right ventricular apical (RVA) pacing on the prevalence of pulmonary artery hypertension (PAH) and right ventricular (RV) function. This study ...
Latent<i>Mycobacterium tuberculosis</i>Infection
Authors: Haileyesus Getahun, Alberto Matteelli, Richard E. Chaisson, Mario Raviglione
Journal: New England Journal of Medicine (2015)

About one third of the world population has latent M. tuberculosis infection. This review explains the approach to patients with latent infection, including an update on the risks and benefits of treatment and assessment of the likelihood of progression to active disease.
The Urological Management of the Patient Following Spinal Cord Injury.
Authors: John W. Pearman, Ernest J. England
Journal: Annals of Internal Medicine (1973)

tumour control, rather than the benefits derived from two concurrent modalities acting at different sites of disease.A disappointing chapter on acute leukaemia fails to emphasize the greatly improved outlook in acute lymphoblastic leukwmia, and the advice given on patient counselling will not find ready acceptance by the British physician.This book cannot be recommended as a text for the medical student or intending medical onco- logist, but is good value as a useful reference manual.
Effect of zoledronic acid (Z) treatment based on serum parathyroid hormone (PTH) levels in patients (pts) with malignant bone disease
Authors: A. Berruti, L. Dogliotti, M. Tampellini, A. Lipton, V. Hirsh, F. Saad, P. Liati, N. Shirina, R. Cook, Y. L. Hei
Journal: Journal of Clinical Oncology (2006)

8610 Background: Z prevents skeletal-related events (SREs) in pts with bone metastases or multiple myeloma. However, secondary hyperparathyroidism and increased PTH may stimulate osteoclast activity and tumor growth, thus potentially limiting the efficacy of Z. Methods: Serum PTH was assessed at baseline and every 3 months in 1,068 pts enrolled in 3 randomized trials: 547 received Z, and 521 received placebo or pamidronate. Results: 213 (20%) pts had elevated PTH at baseline, and 105 of 547 (19%) pts had elevated PTH during Z treatment. In patients with normal baseline PTH, Z significantly reduced the incidence of SREs and delayed time to first SRE compared with control, whereas the risk of SREs was not reduced in patients with elevated baseline PTH. In prostate cancer patients, Z significantly decreased the risk of death compared with placebo in pts with normal baseline PTH (relative risk [RR] = 0.72; 95% confidence interval [CI]: 0.55, 0.94; P = .015). No survival advantage was observed in this subpopulation among pts with lung cancer or other solid tumors. In the small subset of pts with elevated PTH during Z treatment, there was an increased risk of death (for breast cancer pts, RR = 1.68 [95% CI: 1.10, 2.56]; P = .016; for prostate cancer pts, RR = 2.92 [95% CI: 1.83, 4.67]; P &lt; .001). Additionally, elevated PTH during Z treatment in prostate cancer pts also significantly correlated with an increased risk of bone lesion progression (RR = 1.54 [95% CI: 1.09, 2.17]; P = .015). Elevated PTH during treatment did not affect the incidence or time to onset of SREs. Among pts with lung cancer or other solid tumors, elevated PTH during Z treatment did not provide any predictive or prognostic information. Conclusions: PTH levels either at baseline or during Z treatment appear to correlate with disease progression and the clinical benefit of Z in pts with bone metastases from certain types of cancer. This retrospective analysis suggests the importance of PTH status in patients undergoing Z treatment. Normalization of PTH levels may increase the benefit of Z. [Table: see text]
Diagnosis of Cystic Fibrosis in Adults.
Authors: T Chinet, I Fajac, C Ferec, T Garcia Carmona, T Nguyen-Khoa
Journal: Annals of Internal Medicine (1984)

Cystic fibrosis is a genetic recessive disorder caused by mutations in the gene that encodes the CFTR protein. The diagnosis of cystic fibrosis is usually established in early childhood but it is now being made in an increasing number of adults. Many of them present with mild or atypical cystic fibrosis clinical features, mostly lung disease. In addition, some adults with congenital bilateral absence of vas deferens or idiopathic chronic pancreatitis may be assigned a diagnosis of cystic fibrosis. The diagnosis of cystic fibrosis in adults should be based on the presence of one or more characteristic clinical features, a history of cystic fibrosis in a sibling, plus evidence of defective CFTR function as documented by elevated sweat chloride concentrations or abnormal ion transport across the nasal epithelium, or identification of mutations on both CFTR genes.
The effect of forceps type on results and complications of transbronchial lung biopsy
Authors: Hamidreza Jabbardarjani, Alireza Eslaminejad, Arda Kiani
Journal: European Respiratory Journal (2011)

Background: Lung biopsy via the bronchus (TBLB) is among the routine diagnostic procedures for pulmonary diseases and is performed using either of two different kinds of forceps: cup and alligator.

Objective: The purpose of this study was to compare the efficacy of two kinds of forceps on quality of biopsy as well as the side effects of TBLB.

Methods: This was a prospective, observational and double-blind study in which four samples were biopsied from each patient via TBLB. The sample characteristics were recorded based on size, number of alveoli included, diagnostic value, and the side effects such as pneumothorax and bleeding.

Findings: A total number of 44 patients and 176 biopsies were evaluated. Twenty one patients (47.7%) were males and 23 (52.3%) females. While considering the size of samples, of 88 biopsies via alligator forceps, 21.6% were small, 45.5% medium, and 33% large. Corresponding results for the cup forceps were 43.2% small, 29.5% medium, and 27.3% large. From 88 biopsies taken using alligator forceps, 18.2% were found to have diagnostic value whereas in the case of cup forceps the diagnostic value was 23.9%. While no significant pneumothorax was seen with alligator forceps it was observed in 9% of the cup forceps procedures. Significant bleeding was seen in 1% of the alligator forceps and 5.7% of the cup forceps procedures.

Conclusion: Comparing two types of forceps regarding the effect on results of TBLB, alligator forceps produced larger samples (P=0.008) and less side effects (P=0.002). There was no significant difference in diagnostic value between two procedures (P=0.355).
Abstract 5844: Cyclic Stretch and TGF-{beta}1 Induce Aortic Valve Calcification via a Bone Morphogenic Protein Moderated Pathway
Authors: Kartik Balachandran, Philippe Sucosky, Hanjoong Jo, Ajit Yoganathan
Journal: Circulation (2008)

Introduction Calcified aortic valve (AV) cusps express high amounts of TGF-β1. We sought to understand if cyclic stretch in the presence of TGF-β1 initiates AV calcification through a BMP dependent...
Recruiting ethnic minority medical students
Authors: N. Turner
Journal: BMJ (1995)

<b>Background:</b> Concern exists that the prolonged application of immunomodulators to treat atopic dermatitis may cause systemic immunosuppression. <b>Aims:</b> In a 7-month, multicentre, randomised, controlled trial, we investigated the equivalence of response to vaccination against meningococcal serogroup C disease with a protein-conjugate vaccine in children (2–11 years) with moderate to severe atopic dermatitis, by applying either 0.03% tacrolimus ointment (TAC-O; n = 21) or a hydrocortisone ointment regimen (HC-O; n = 111). <b>Methods:</b> TAC-O was applied twice daily (bid) for 3 weeks, and thereafter daily until clearance. 1% hydrocortisone acetate (HA) for head/neck and 0.1% hydrocortisone butyrate ointment for trunk/limbs was applied bid for 2 weeks; thereafter HA was applied bid to all affected areas. At week 1, patients were vaccinated with protein-conjugate vaccine against meningococcal serogroup C, and challenged at month 6 with low dose meningococcal polysaccharide vaccine. The control group (44 non-atopic dermatatits children) received the primary vaccination and challenge dose. Assessments were made at baseline, weeks 1 and 5, and months 6 and 7. The primary end point was the percentage of patients with a serum bactericidal antibody (SBA) titre ⩾8 at the week 5 visit. <b>Results:</b> The response rate (patients with SBA titre ⩾8) was 97.5% (confidence interval (CI) approximately 97.3 to 100), 99.1% (94.8 to 100) and 97.7% (93.3 to 100) in the TAC-O, HC-O and control groups, respectively. <b>Conclusions:</b> The immune response to vaccination against meningococcal serogroup C in children with atopic dermatitis applying either 0.03% TAC-O or HC is equivalent. Ointment application does not affect the immediate response to vaccination, generation of immune memory or humoral and cell-mediated immunity.
Abstract 13808: Role of Cardiac Specific Follistatin-Like 1 in Heart Failure with Preserved Ejection Fraction
Authors: Komei Tanaka, Richard M Wilson, Simoni Baid, Kazuto Nakamura, Noriyuki Ouchi, Kenneth Walsh, Flora Sam
Journal: Circulation (2011)

Background:  Heart failure (HF) with preserved ejection fraction (HFpEF), commonly known as “diastolic HF”, accounts for ∼50% of all HF presentations. Hypertension is a major cause of HFpEF. Similarly, aldosterone (ALDO) plays a pivotal role in HFpEF. Follistatin-like 1 (Fstl1), an extracellular glycoprotein, is expressed in the normal heart and is elevated in acute coronary syndrome and HF. Fstl1 also exerts anti-hypertrophic and anti-inflammatory effects. The aim of this study is to investigate the role of Fstl1 in ALDO-induced HFpEF.   Methods:  Uninephrectomized, cardiomyocyte-specific Fstl1 knock-out (Fstl1cKO) mice and wild-type (WT) mice received a continuous infusion of either d-ALDO or saline and were maintained on 1% NaCl for 4 weeks. Thereafter, blood pressure (BP) measurement, echocardiography and qRT-PCR were performed. Isolated adult rat ventricular myocytes (ARVM) were treated with recombinant Fstl1 (rFstl1) and then stimulated with ALDO. pERK and MMP were determined by immunoblotting.   Results:  BP was increased in both WT-ALDO and Fstl1cKO-ALDO (146±6 and 143±5mmHg; p   Conclusions:  Cardiac specific Fstl1 deficiency exacerbated the progression of ALDO-induced HFpEF. MMPs and their inhibitors are regulators of the extracellular matrix and are important in the development of HFpEF. Fstl1 may modulate the progression of HFpEF possibly via a mechanism involving ERK and the MMP axis.
Sirt1 Controls Endothelial Angiogenic Functions During Vascular Growth And Maturation
Authors: Michael Potente
Journal: Circulation (2007)

Abstract 286 Michael Potente, Laleh Ghaeni, Molecular Cardiology, Frankfurt, Germany; Danila Baldessari, Zebrafish Group, Milan, Italy; Raul Mostoslavsky, Howard Hughes Medical Inst, The Children’s Hosp, Boston, MA; Lothar Rossig, Molecular Cardiology, Frankfurt, Germany; Franck Dequiedt, Cellular and Molecular Biology Unit, Gembloux, Belgium; Judith Haendeler, Molecular Cardiology, Frankfurt, Germany; Marina Mione, Zebrafish Group, Milan, Italy; Elisabetta Dejana, IFOM-FIRC Inst of Molecular Oncology, Milan, Italy; Frederick W Alt, Howard Hughes Medical Inst, The Children’s Hosp, Boston, MA; Andreas M Zeiher, Stefanie Dimmeler, Molecular Cardiology, Frankfurt, Germany Michael Potente, 2007 Finalist and Presenting Author