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https://www.readbyqxmd.com/read/28805525/pace-gate-an-alternative-view-on-a-study-with-a-poor-trial-protocol
#1
Bart Stouten
The controversies surrounding the effectiveness of cognitive behavioural therapy and graded exercise therapy for chronic fatigue syndrome are explained using Cohen's d effect sizes rather than arbitrary thresholds for 'success'. This article shows that the treatment effects vanish when switching to objective outcomes. The preference for subjective outcomes by the PACE trial team leads to false hope. This article provides a more realistic view, which will help patients and their doctors to evaluate the pros and cons...
August 2017: Journal of Health Psychology
https://www.readbyqxmd.com/read/28771834/molecular-prenatal-diagnosis-of-alpha-and-beta-thalassemia-in-pregnant-hakka-women-in-southern-china
#2
Pingsen Zhao, Heming Wu, Zhixiong Zhong, Liubing Lan, Mei Zeng, Hualan Lin, Huaxian Wang, Zhiyuan Zheng, Luxian Su, Wei Guo
BACKGROUND: To date, there has been no systematic study of DNA-based prenatal diagnosis of thalassemia in pregnant Hakka women in southern China. METHODS: A total of 279 pregnant Hakka women with confirmed cases of thalassemia who had been treated at the Meizhou People's Hospital in China's Guangdong Province from January 2014 to December 2016 were here enrolled. Genomic DNA was extracted from peripheral blood of couples and villus, amniotic fluid, or fetal cord blood...
August 3, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28762937/-risk-of-cardiovascular-complications-and-geriatric-syndromes-among-elderly-women
#3
V N Larina, N K Runikhina, B Y Bart, I I Chukaeva, D G Karpenko
AIM: to assess the prevalence of some geriatric syndromes and their association with high risk of cardiovascular complications (RCVC) among elderly women. MATERIAL AND METHODS: We examined 72 women aged 69-77 years with cardiovascular diseases. Examination included laboratory and echocardiography assessment, dual-energy X-ray absorptiometry, 6-min walk test, assessment of psycho-emotional status using Mini-mental State Examination (MMSE) questionnaire. Frailty was defined as three or more of the following: weight loss, low physical activity levels, MMSE less or equal 23 points, weakness (chair stand test>10 sec), history of multiple falls...
March 2017: Kardiologiia
https://www.readbyqxmd.com/read/28740469/neuroligins-nlg2-and-nlg4-affect-social-behavior-in-drosophila-melanogaster
#4
Kristina Corthals, Alina Sophia Heukamp, Robert Kossen, Isabel Großhennig, Nina Hahn, Heribert Gras, Martin C Göpfert, Ralf Heinrich, Bart R H Geurten
The genome of Drosophila melanogaster includes homologs to approximately one-third of the currently known human disease genes. Flies and humans share many biological processes, including the principles of information processing by excitable neurons, synaptic transmission, and the chemical signals involved in intercellular communication. Studies on the molecular and behavioral impact of genetic risk factors of human neuro-developmental disorders [autism spectrum disorders (ASDs), schizophrenia, attention deficit hyperactivity disorders, and Tourette syndrome] increasingly use the well-studied social behavior of D...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28734938/hepatitis-e-virus-infection-and-acute-non-traumatic-neurological-injury-a-prospective-multicentre-study
#5
Harry R Dalton, Jeroen J J van Eijk, Pascal Cintas, Richie G Madden, Catherine Jones, Glynn W Webb, Benjamin Norton, Julie Pique, Suzanne Lutgens, Nikki Devooght-Johnson, Kathy Woolson, John Baker, Maria Saunders, Liz Househam, James Griffiths, Florence Abravanel, Jacques Izopet, Nassim Kamar, Nens van Alfen, Baziel G M van Engelen, Jeremy G Hunter, Annemiek A van der Eijk, Richard P Bendall, Brendan N Mclean, Bart C Jacobs
BACKGROUND AND AIMS: HEV has been associated with a number of neurological syndromes, but causality has not yet been established. AIM: to explore the relationship between HEV and neurological illness by prospective HEV-testing of patients presenting with acute non-traumatic neurological injury. METHODS: 464 consecutive patients presenting to hospital with acute non-traumatic neurological illnesses were tested for HEV by serology and PCR from 4 centres in the UK, France and the Netherlands...
July 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28714525/dedicated-bifurcation-stents-or-regular-drug-eluting-stents-in-distal-left-main-stenosis-a-retrospective-study
#6
Adam Kern, Robert J Gil, Krystian Bojko, Bartłomiej Rzeszowski, Krzysztof Bednarski, Jerzy Górny, Jacek Bil
BACKGROUND: Mainly atherosclerosis develops in distal left main (LM) within bifurcation or trifurcation. The aim of this study was to analyze the strategy of distal LM stenosis treatment and associated clinical outcomes in a large hospital in Northern Poland. METHODS: The study population consisted of consecutive patients with stable coronary artery disease or acute coronary syndrome (ACS) and distal LM stenosis who were hospitalized between June 2012 and June 2013...
July 17, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28699283/prospective-evaluation-of-chronic-organ-damage-in-adult-sickle-cell-patients-a-seven-year-follow-up-study
#7
Charlotte F J van Tuijn, Marein Schimmel, Eduard J van Beers, Erfan Nur, Bart J Biemond
Organ damage in sickle cell disease (SCD) is a crucial determinant for disease severity and prognosis. In a previous study, we analyzed the prevalence of SCD-related organ damage and complications in adult sickle cell patients. We now describe a seven-year follow-up of this cohort.All patients from the primary analysis in 2006 (n = 104), were included for follow-up. Patients were screened for SCD-related organ damage and complications (microalbuminuria, renal failure, elevated tricuspid regurgitation flow velocity (TRV) (≥2...
July 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#8
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28659821/candidate-gene-resequencing-in-a-large-bicuspid-aortic-valve-associated-thoracic-aortic-aneurysm-cohort-smad6-as-an-important-contributor
#9
Elisabeth Gillis, Ajay A Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A Mohamed, Seema Mital, Luc Mertens, Hanna M Björck, Anders Franco-Cereceda, Andrew S McCallion, Lut Van Laer, Judith M A Verhagen, Ingrid M B H van de Laar, Marja W Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C Dietz, Aline Verstraeten, Bart L Loeys
Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Historically, BAV-related TAA was considered as a hemodynamic consequence of the valve defect. Multiple lines of evidence currently suggest that genetic determinants contribute to the pathogenesis of both BAV and TAA in affected individuals. Despite high heritability, only very few genes have been linked to BAV or BAV/TAA, such as NOTCH1, SMAD6, and MAT2A...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28642233/sembragiline-a-novel-selective-monoamine-oxidase-type-b-inhibitor-for-the-treatment-of-alzheimer-s-disease
#10
Edilio Borroni, Bernd Bohrmann, Fiona Grueninger, Eric Prinssen, Stephane Nave, Hansruedi Loetscher, Shankar J Chinta, Subramanian Rajagopalan, Anand Rane, Almas Siddiqui, Bart Ellenbroek, Juerg Messer, Axel Pähler, Julie K Andersen, Rene Wyler, Andrea M Cesura
Monoamine oxidase B (MAO-B) has been implicated in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative disorders. Increased MAO-B expression in astroglia has been observed adjacent to amyloid plaques in AD patient brains. This phenomenon is hypothesized to lead to increased production of hydrogen peroxide and reactive oxygen species (ROS), thereby contributing to AD pathology. Therefore, reduction of ROS-induced oxidative stress via inhibition of MAO-B activity may delay the progression of the disease...
September 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28640947/clinico-molecular-analysis-of-eleven-patients-with-hermansky-pudlak-type-5-syndrome-a-mild-form-of-hps
#11
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo-Trujillo, Christian Hamel, Nursel H Elcioglu, Bart Leroy, Josseline Kaplan, Pierre-Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice-Picard, Benoit Arveiler
Hermansky-Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosomes-related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2). Here we report the clinical and genetic data of 11 HPS-5 patients analyzed in our laboratory...
June 22, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28629992/do-patients-with-carpal-tunnel-syndrome-benefit-from-low-level-laser-therapy-a-systematic-review-of-randomized-controlled-trials
#12
REVIEW
Thierry P C Franke, Bart W Koes, Sven J G Geelen, Bionka M A Huisstede
OBJECTIVE: To systematically review the literature on the effectiveness of low-level laser therapy for patients with carpal tunnel syndrome. DATA SOURCES: The Cochrane Library, PubMed, EMBASE, CINAHL, and PEDro were searched for relevant systematic reviews and randomized controlled trials (RCTs) up to April 8 2016. STUDY SELECTION: Two reviewers independently applied the inclusion criteria to select potential studies. DATA EXTRACTION: Two reviewers independently extracted the data and assessed the methodological quality...
June 16, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28623346/early-onset-primary-antibody-deficiency-resembling-common-variable-immunodeficiency-challenges-the-diagnosis-of-wiedeman-steiner-and-roifman-syndromes
#13
Delfien J Bogaert, Melissa Dullaers, Hye Sun Kuehn, Bart P Leroy, Julie E Niemela, Hans De Wilde, Sarah De Schryver, Marieke De Bruyne, Frauke Coppieters, Bart N Lambrecht, Frans De Baets, Sergio D Rosenzweig, Elfride De Baere, Filomeen Haerynck
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28616497/mers-coronavirus-from-discovery-to-intervention
#14
REVIEW
W Widagdo, Nisreen M A Okba, V Stalin Raj, Bart L Haagmans
Middle East respiratory syndrome coronavirus (MERS-CoV) still causes outbreaks despite public awareness and implementation of health care measures, such as rapid viral diagnosis and patient quarantine. Here we describe the current epidemiological picture of MERS-CoV, focusing on humans and animals affected by this virus and propose specific intervention strategies that would be appropriate to control MERS-CoV. One-third of MERS-CoV patients develop severe lower respiratory tract infection and succumb to a fatal outcome; these patients would require effective therapeutic antiviral therapy...
June 2017: One Health
https://www.readbyqxmd.com/read/28612032/genetics-and-molecular-biology-of-epstein-barr-virus-encoded-bart-microrna-a-paradigm-for-viral-modulation-of-host-immune-response-genes-and-genome-stability
#15
REVIEW
David H Dreyfus
Epstein-Barr virus, a ubiquitous human herpesvirus, is associated through epidemiologic evidence with common autoimmune syndromes and cancers. However, specific genetic mechanisms of pathogenesis have been difficult to identify. In this review, the author summarizes evidence that recently discovered noncoding RNAs termed microRNA encoded by Epstein-Barr virus BARF (BamHI A right frame) termed BART (BamHI A right transcripts) are modulators of human immune response genes and genome stability in infected and bystander cells...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28604731/genome-wide-association-analysis-of-insomnia-complaints-identifies-risk-genes-and-genetic-overlap-with-psychiatric-and-metabolic-traits
#16
Anke R Hammerschlag, Sven Stringer, Christiaan A de Leeuw, Suzanne Sniekers, Erdogan Taskesen, Kyoko Watanabe, Tessa F Blanken, Kim Dekker, Bart H W Te Lindert, Rick Wassing, Ingileif Jonsdottir, Gudmar Thorleifsson, Hreinn Stefansson, Thorarinn Gislason, Klaus Berger, Barbara Schormair, Juergen Wellmann, Juliane Winkelmann, Kari Stefansson, Konrad Oexle, Eus J W Van Someren, Danielle Posthuma
Persistent insomnia is among the most frequent complaints in general practice. To identify genetic factors for insomnia complaints, we performed a genome-wide association study (GWAS) and a genome-wide gene-based association study (GWGAS) in 113,006 individuals. We identify three loci and seven genes associated with insomnia complaints, with the associations for one locus and five genes supported by joint analysis with an independent sample (n = 7,565). Our top association (MEIS1, P < 5 × 10(-8)) has previously been implicated in restless legs syndrome (RLS)...
June 12, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28600031/hematopoietic-cell-transplantation-in-myelodysplastic-syndromes-after-treatment-with-hypomethylating-agents
#17
Moreno Festuccia, Kelsey Baker, Theodore A Gooley, Brenda M Sandmaier, H Joachim Deeg, Bart L Scott
The prognosis of patients with myelodysplastic syndromes (MDS) after failure of hypomethylating agent (HMA) therapy is poor. Allogeneic hematopoietic cell transplantation (HCT) can be effective in curing patients who have failed therapy with HMA. However, published results have not addressed the outcomes with HCT in this setting. We identified 125 MDS patients who had been treated with HMA and underwent subsequent HCT. Among these, 68 were considered HMA failures and 57 responders. Failure was defined as progression to higher grade MDS or acute myeloid leukemia, lack of hematologic improvement after at least 4 HMA cycles, or loss of response after initial improvement...
June 30, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28577858/the-effectiveness-of-surgical-and-post-surgical-interventions-for-carpal-tunnel-syndrome-a-systematic-review
#18
REVIEW
Bionka Ma Huisstede, Janneke van den Brink, Manon S Randsdorp, Sven Jg Geelen, Bart W Koes
OBJECTIVE: To present an evidence-based overview of the effectiveness of surgical and postsurgical interventions for carpal tunnel syndrome (CTS). DATA SOURCES: The Cochrane Library, PubMed, EMBASE, CINAHL and PEDro were searched for relevant systematic reviews and randomized controlled trials (RCTs) up to April 8th 2016. DATA SELECTION AND EXTRACTION: Two reviewers independently selected the studies, extracted the data, and assessed the methodological quality...
May 31, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28572025/cobalt-toxicity-in-humans-a-review-of-the-potential-sources-and-systemic-health-effects
#19
REVIEW
Laura Leyssens, Bart Vinck, Catherine Van Der Straeten, Floris Wuyts, Leen Maes
Cobalt (Co) and its compounds are widely distributed in nature and are part of numerous anthropogenic activities. Although cobalt has a biologically necessary role as metal constituent of vitamin B12, excessive exposure has been shown to induce various adverse health effects. This review provides an extended overview of the possible Co sources and related intake routes, the detection and quantification methods for Co intake and the interpretation thereof, and the reported health effects. The Co sources were allocated to four exposure settings: occupational, environmental, dietary and medical exposure...
July 15, 2017: Toxicology
https://www.readbyqxmd.com/read/28546579/corrigendum-smchd1-mutations-associated-with-a-rare-muscular-dystrophy-can-also-cause-isolated-arhinia-and-bosma-arhinia-microphthalmia-syndrome
#20
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
No abstract text is available yet for this article.
May 26, 2017: Nature Genetics
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