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the journal of american medical association

Yuri A Zarate, Jennifer L Fish
The SATB2-associated syndrome is a recently described syndrome characterized by developmental delay/intellectual disability with absent or limited speech development, craniofacial abnormalities, behavioral problems, dysmorphic features, and palatal and dental abnormalities. Alterations of the SATB2 gene can result from a variety of different mechanisms that include contiguous deletions, intragenic deletions and duplications, translocations with secondary gene disruption, and point mutations. The multisystemic nature of this syndrome demands a multisystemic approach and we propose evaluation and management guidelines...
October 24, 2016: American Journal of Medical Genetics. Part A
Hilde de Kluiver, Jacobine E Buizer-Voskamp, Conor V Dolan, Dorret I Boomsma
We review the hypotheses concerning the association between the paternal age at childbearing and childhood psychiatric disorders (autism spectrum- and attention deficit/hyperactive disorder) and adult disorders (schizophrenia, bipolar-, obsessive-compulsive-, and major depressive disorder) based on epidemiological studies. Several hypotheses have been proposed to explain the paternal age effect. We discuss the four main-not mutually exclusive-hypotheses. These are the de novo mutation hypothesis, the hypothesis concerning epigenetic alterations, the selection into late fatherhood hypothesis, and the environmental resource hypothesis...
October 22, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Michele Carron
Non-invasive ventilation (NIV) has assumed an important role in the management of acute respiratory failure (ARF). NIV, compared with standard medical therapy, improves survival and reduces complications in selected patients with ARF. NIV represents the first-line intervention for some forms of ARF, such as chronic obstructive pulmonary disease (COPD) exacerbations and acute cardiogenic pulmonary edema. The use of NIV is also well supported for immunocompromised patients who are at high risk for infectious complications from endotracheal intubation...
September 2016: Annals of Translational Medicine
Robert B Shaw, Kylie D Mallory, Jane Arkell, Kathleen A Martin Ginis
BACKGROUND: The internet is an important information source for people with disabilities. Unfortunately, little is known about the quality of online leisure time physical activity resources provided for people with physical disabilities. OBJECTIVE: To assess the quality of leisure time physical activity resources available online for people with physical disabilities. METHODS: A purposive internet search was conducted to locate Canadian-developed resources that promoted leisure time physical activity for people with physical disabilities...
September 13, 2016: Disability and Health Journal
Anna Paprocka-Lipińska
Significant recovery of discussion about the need for the formulation of criteria of death was provoked due to the progress of medicine. Development of anaesthesiology and intensive therapy, introduction of new resuscitation techniques and devices, which are increasingly better able to maintain and sometimes even replace functions of the respiratory or cardiovascular system, which are essential for the survival meant that existing for centuries, socially accepted classical criteria of death, based on cessation of breath and circulation, are no longer sufficient...
September 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Christine C Johnson, Grant H Garcia, Joseph N Liu, Jeffrey G Stepan, Ronak M Patel, Joshua S Dines
BACKGROUND: The quality of medical information on the Internet has come under scrutiny. This study investigates the quality, accuracy, and readability of online information regarding ulnar collateral ligament (UCL) injuries. METHODS: Three search terms ("elbow ulnar collateral ligament injury," "tommy john injury," and "pitcher's elbow") were entered into 3 Internet search engines. Three independent reviewers evaluated the content and accuracy of the information with a set of predetermined scoring criteria...
October 10, 2016: Journal of Shoulder and Elbow Surgery
Philippa J Stimpson, Daniel Jb Marks
The British Journal of Hospital Medicine is 50 years old. This article takes a look back at articles published during the year of its inception from the British Medical Journal, the Lancet and the Journal of the American Medical Association.
October 2016: British Journal of Hospital Medicine
Karim Malki, Maria Grazia Tosto, Héctor Mouriño-Talín, Sabela Rodríguez-Lorenzo, Oliver Pain, Irfan Jumhaboy, Tina Liu, Panos Parpas, Stuart Newman, Artem Malykh, Lucia Carboni, Rudolf Uher, Peter McGuffin, Leonard C Schalkwyk, Kevin Bryson, Mark Herbster
Response to antidepressant (AD) treatment may be a more polygenic trait than previously hypothesized, with many genetic variants interacting in yet unclear ways. In this study we used methods that can automatically learn to detect patterns of statistical regularity from a sparsely distributed signal across hippocampal transcriptome measurements in a large-scale animal pharmacogenomic study to uncover genomic variations associated with AD. The study used four inbred mouse strains of both sexes, two drug treatments, and a control group (escitalopram, nortriptyline, and saline)...
October 1, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Hamed Khalili
In addition to cholesterol depletion, statins also significantly decrease systemic inflammation as measured by C-reactive protein. In this issue of American Journal of Gastroenterology, Ungaro et al. present their results on the associations between statin prescriptions and risk of Crohn's disease (CD) and ulcerative colitis (UC). Using a national medical claims and pharmacy database created by Symphony Health Solutions LLC (SHA), they show that any use of statin is protective against diagnosis of CD and UC...
October 2016: American Journal of Gastroenterology
Luba Dumenco, Deborah L Engle, Kristen Goodell, Alisa Nagler, Robin K Ovitsh, Shari A Whicker
After participating in a group peer-review exercise at a workshop presented by Academic Medicine and MedEdPORTAL editors at the 2015 Association of American Medical Colleges Medical Education Meeting, the authors realized that the way their work group reviewed a manuscript was very different from the way by which they each would have reviewed the paper as an individual. Further, the group peer-review process yielded more robust feedback for the manuscript's authors than did the traditional individual peer-review process...
September 27, 2016: Academic Medicine: Journal of the Association of American Medical Colleges
M Beccaglia, S Alonge, C Trovo', G C Luvoni
Accurate prediction of delivery date in canine and feline allows a better management of parturition, reducing the loss of neonates. This review evaluates the most common methods adopted to accurately predict the day of delivery: determination of ovulation and hormonal assays, first appearance of embryonic/foetal structures using ultrasound or radiography, echographic measurement of extra-foetal and foetal structures, or evaluation of foetal flux and heart rate. Determination of ovulation and hormonal assays at the time of breeding and close to pregnancy term is widely used to predict parturition in dogs (Concannon et al...
September 2016: Reproduction in Domestic Animals, Zuchthygiene
S Tang, E Hughes, K Lascelles, M A Simpson, D K Pal
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc...
September 26, 2016: American Journal of Medical Genetics. Part A
L M Perrem, S Gosling, I Ravikumar, A S Khashan, J Miletin, C A Ryan, E Dempsey
AIM: To evaluate the reported use of Data Monitoring Committees (DMCs), the frequency of interim analysis, pre-specified stopping rules and early trial termination in neonatal randomised controlled trials (RCTs). METHODS: We reviewed neonatal RCTs published in four high impact general medical journals, specifically looking at safety issues including documented involvement of a DMC, stated interim analysis, stopping rules and early trial termination. We searched all journal issues over an 11-year period (2003-2013) and recorded predefined parameters on each item for RCTs meeting inclusion criteria...
September 16, 2016: Acta Paediatrica
N Franceschini, R C Fry, P Balakrishnan, A Navas-Acien, C Oliver-Williams, A G Howard, S A Cole, K Haack, E M Lange, B V Howard, L G Best, K A Francesconi, W Goessler, J G Umans, M Tellez-Plaza
Cadmium (Cd) is an environmental pollutant that has been associated with cardiovascular disease in populations, but the relationship of Cd with hypertension has been inconsistent. We studied the association between urinary Cd concentrations, a measure of total body burden, and blood pressure in American Indians, a US population with above national average Cd burden. Urinary Cd was measured using inductively coupled plasma mass spectrometry, and adjusted for urinary creatinine concentration. Among 3714 middle-aged American Indian participants of the Strong Heart Study (mean age 56 years, 41% male, 67% ever-smokers, 23% taking antihypertensive medications), urinary Cd ranged from 0...
September 15, 2016: Journal of Human Hypertension
Jessica K Zègre-Hemsey, David Pickham, Michele M Pelter
INTRODUCTION: The American Heart Association recommends individuals with symptoms suggestive of acute coronary syndrome (ACS) activate the Emergency Medical Services' (EMS) 911 system for ambulance transport to the emergency department (ED), which enables treatment to begin prior to hospital arrival. Despite this recommendation, the majority of patients with symptoms suspicious of ACS continue to self-transport to the ED. The IMMEDIATE AIM study was a prospective study that enrolled individuals who presented to the ED with ischemic symptoms...
August 20, 2016: Journal of Electrocardiology
Mujtaba Nassiri, Osama Mohamed, Arvids Berzins, Yasser Aljabi, Talat Mahmood, Shojaeddin Chenouri, Paul O'Grady
BACKGROUND: Patients seeking information and advice on treatment of scaphoid fractures unknowingly confront longstanding medical controversies surrounding the management of this condition. However, there are no studies specifically looking into the quality and reliability of online information on scaphoid fractures. METHODS: We identified 44 unique websites for evaluation using the term "scaphoid fractures". The websites were categorized by type and assessed using the DISCERN score, the Journal of the American Medical Association (JAMA) benchmark criteria and the Health on the net (HON) code...
October 2016: J Hand Surg Asian Pac Vol
L D Levine, C Nkonde-Price, M Limaye, S K Srinivas
OBJECTIVE: To determine factors associated with lower 6-week postpartum follow-up rates and persistent hypertension among women with preeclampsia with severe features (PEC-S). STUDY DESIGN: Planned secondary analysis of a retrospective cohort study of women with PEC-S. Outcomes were (1) attendance at the 6-week postpartum visit and (2) persistent hypertension. RESULTS: One hundred ninety-three women were in the final cohort. The 6-week follow-up rate was 52...
September 1, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
Kim M Keppler-Noreuil, Eva H Baker, Julie C Sapp, Marjorie J Lindhurst, Leslie G Biesecker
Somatic genetic mutations in meningiomas are associated with histologic subtypes, anatomical location, and grade. Concomitant hyperostosis occurs with some meningiomas and the pathogenesis is not well understood. Cranial hyperostosis and meningiomas are common in patients with Proteus syndrome, which is caused by a somatic activating mutation in AKT1 c.49G>A. This same mutation has also been found in 6-9% of sporadic non-syndromic meningiomas. Sixty-one patients with Proteus syndrome meeting clinical diagnostic criteria were evaluated at the NIH from 1997 to 2014...
October 2016: American Journal of Medical Genetics. Part A
Julian Danino, Jameel Muzaffar, Alistair Mitchell-Innes, James Howard, Chris Coulson
OBJECTIVE: Evaluate the type, content, and quality of information available via the Internet for patients with common otological conditions. METHODS: The Google search engine was used to generate responses for the following search terms: glue ear, otitis media, otosclerosis, Ménière's disease, cholesteatoma, and ear perforation. The first 10 websites for each search term were selected for analysis. Websites were evaluated with the validated DISCERN instrument (Institute of Health Sciences, University of Oxford, UK), the LIDA tool (Minervation Ltd, Oxford, UK), the Flesch Readability Formula, the Simple Measure Of Gobbledygook (SMOG) readability score, and against the Journal of the American Medical Association (JAMA) criteria...
September 2016: Otology & Neurotology
Meredith Hays, Mary Andrews, Ramey Wilson, David Callender, Patrick G O'Malley, Kevin Douglas
OBJECTIVE: The aim of this study was to assess adherence to the Consolidated Standards of Reporting Trials (CONSORT) for Abstracts by five high-impact general medical journals and to assess whether the quality of reporting was homogeneous across these journals. DESIGN: This is a descriptive, cross-sectional study. SETTING: Randomised controlled trial (RCT) abstracts in five high-impact general medical journals. PARTICIPANTS: We used up to 100 RCT abstracts published between 2011 and 2014 from each of the following journals: The New England Journal of Medicine (NEJM), the Annals of Internal Medicine (Annals IM), The Lancet, the British Medical Journal (The BMJ) and the Journal of the American Medical Association (JAMA)...
July 28, 2016: BMJ Open
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