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https://www.readbyqxmd.com/read/28636179/discontinuation-and-non-publication-of-neurodegenerative-disease-trials-a-cross-sectional-analysis
#1
J D Stefaniak, T C H Lam, N E Sim, R Al-Shahi Salman, D P Breen
BACKGROUND AND PURPOSE: Trial discontinuation and non-publication represent major sources of research waste in clinical medicine. No previous studies have investigated non-dissemination bias in clinical trials of neurodegenerative diseases. METHODS: ClinicalTrials.gov was searched for all randomized, interventional, phase II-IV trials that were registered between 1 January 2000 and 31 December 2009 and included adults with Alzheimer's disease, motor neurone disease, multiple sclerosis or Parkinson's disease...
June 21, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28636116/curriculum-content-and-assessment-of-pre-clinical-dental-skills-a-survey-of-undergraduate-dental-education-in-europe
#2
J Field, S Stone, C Orsini, A Hussain, S Vital, A Crothers, D Walmsley
INTRODUCTION: Since 1981, the qualifications for various healthcare professionals across the European Union have enjoyed mutual recognition in accordance with the EU Directive 81/1057/EEC. Whilst the directive includes dental practitioners, it is recognised that significant variation exists in curriculum structure, content and scope of practice across institutions. This article aimed to explore pan-European practice in relation to curriculum content, teaching and learning strategies and assessment of pre-clinical dental skills...
June 21, 2017: European Journal of Dental Education: Official Journal of the Association for Dental Education in Europe
https://www.readbyqxmd.com/read/28635968/sex-biased-dispersal-creates-spatial-genetic-structure-in-a-parthenogenetic-ant-with-a-dependent-lineage-reproductive-system
#3
A Kuhn, D Bauman, H Darras, S Aron
Reproduction and dispersal are key aspects of species life history that influence spatial genetic structure in populations. Several ant species in the genus Cataglyphis have evolved a unique breeding system in which new reproductives (that is, queens and males) are produced asexually by parthenogenesis; in contrast, non-reproductives (that is, workers) are produced via sexual reproduction by mates from distinct genetic lineages. We investigated how these two coexisting reproductive methods affect population-level spatial genetic structure using the ant Cataglyphis mauritanica as a model...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635967/social-behaviour-involving-drug-resistance-the-role-of-initial-density-initial-frequency-and-population-structure-in-shaping-the-effect-of-antibiotic-resistance-as-a-public-good
#4
I L Domingues, J A Gama, L M Carvalho, F Dionisio
Bacteria sometimes cooperate with co-inhabiting cells. Pathogenic bacteria, for example, often produce and excrete virulence factors, eventually benefitting both producer and non-producer cells. The role of social interactions involving antibiotic resistance, however, has been more elusive. Enzymes that inactivate β-lactam antibiotics such as ampicillin or penicillin (β-lactamases) are good candidates as public goods. Nonetheless, it has been claimed that bacteria harbouring plasmids of natural origin coding for β-lactamase almost do not protect sensitive bacteria...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635966/testing-models-of-refugial-isolation-colonization-and-population-connectivity-in-two-species-of-montane-salamanders
#5
S M Rovito, S D Schoville
Pleistocene glaciations have profoundly affected patterns of genetic diversity within many species. Temperate alpine organisms likely experienced dramatic range shifts, given that much of their habitat was glaciated during this time. While the effects of glaciations are relatively well understood, the spatial locations of refugia and processes that gave rise to current patterns of diversity are less well known. We use a microsatellite data set to test hypotheses of population connectivity and refugial isolation in the web-toed salamanders (Hydromantes) of the Sierra Nevada...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635965/identification-genealogical-structure-and-population-genetics-of-s-alleles-in-malus-sieversii-the-wild-ancestor-of-domesticated-apple
#6
X Ma, Z Cai, W Liu, S Ge, L Tang
The self-incompatibility (SI) gene that is specifically expressed in pistils encodes the SI-associated ribonuclease (S-RNase), functioning as the female-specificity determinant of a gametophytic SI system. Despite extensive surveys in Malus domestica, the S-alleles have not been fully investigated for Malus sieversii, the primary wild ancestor of the domesticated apple. Here we screened the M. sieversii S-alleles via PCR amplification and sequencing, and identified 14 distinct alleles in this species. By contrast, nearly 40 are present in its close wild relative, Malus sylvestris...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#7
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635953/rare-rnf213-variants-in-the-c-terminal-region-encompassing-the-ring-finger-domain-are-associated-with-moyamoya-angiopathy-in-caucasians
#8
Stéphanie Guey, Markus Kraemer, Dominique Hervé, Thomas Ludwig, Manoëlle Kossorotoff, Françoise Bergametti, Jan Claudius Schwitalla, Simone Choi, Lucile Broseus, Isabelle Callebaut, Emmanuelle Genin, Elisabeth Tournier-Lasserve
Moyamoya angiopathy (MMA) is a cerebral angiopathy affecting the terminal part of internal carotid arteries. Its prevalence is 10 times higher in Japan and Korea than in Europe. In East Asian countries, moyamoya is strongly associated to the R4810K variant in the RNF213 gene that encodes for a protein containing a RING-finger and two AAA+ domains. This variant has never been detected in Caucasian MMA patients, but several rare RNF213 variants have been reported in Caucasian cases. Using a collapsing test based on exome data from 68 European MMA probands and 573 ethnically matched controls, we showed a significant association between rare missense RNF213 variants and MMA in European patients (odds ratio (OR)=2...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#9
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635951/new-insights-into-the-imprinted-meg8-dmr-in-14q32-and-clinical-and-molecular-description-of-novel-patients-with-temple-syndrome
#10
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 intergenic (IG)-DMR (MEG3/DLK1:IG-DMR) and the somatic MEG3-DMR (MEG3:TSS-DMR), which are methylated on the paternal and unmethylated on the maternal allele. Disruption of imprinting in the 14q32 region results in two clinically distinct imprinting disorders, Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14)...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635950/genetically-predicted-high-body-mass-index-was-associated-with-increased-gastric-cancer-risk
#11
Yingying Mao, Caiwang Yan, Qun Lu, Meng Zhu, Fei Yu, Cheng Wang, Juncheng Dai, Hongxia Ma, Zhibin Hu, Hongbing Shen, Guangfu Jin
Epidemiological studies have linked body mass index (BMI) with risk of gastrointestinal cancers. However, for gastric cancer, the relationship is more controversial. In particular, it is unclear whether the observed association is due to confounding or bias inherent in conventional observational studies. To investigate whether BMI is causally associated with gastric cancer risk, we applied Mendelian randomization using individual-level data from 2631 gastric cancer cases and 4373 cancer-free controls. We derived a weighted genetic risk score (wGRS) using 37 BMI-associated genetic variants as an instrumental variable...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#12
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635536/women-s-experiences-with-vaginal-examinations-during-labor-in-the-netherlands
#13
Hannah W de Klerk, Elise Boere, Rik H van Lunsen, Jannet J H Bakker
INTRODUCTION: Vaginal digital examination (VE) is a routine medical procedure during labor to assess the start and progression of labor. This study explores women's experiences with VE's during labor in the Netherlands. METHODS: An exploratory anonymous online survey was distributed among Dutch women who underwent a trial of labor and gave birth to a living term child in the previous six months. Unadjusted odds ratios are calculated to establish associations between women's characteristics and reporting a negative experience with VE's...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28634734/exploring-the-digital-technology-preferences-of-teenagers-and-young-adults-tya-with-cancer-and-survivors-a-cross-sectional-service-evaluation-questionnaire
#14
Esha Abrol, Mike Groszmann, Alexandra Pitman, Rachael Hough, Rachel M Taylor, Golnar Aref-Adib
PURPOSE: Digital technology has the potential to support teenagers and young adults (TYAs) with cancer from the onset of their disease into survivorship. We aimed to establish (1) the current pattern of use of TYA digital technologies within our service-user population, and (2) their preferences regarding digital information and support within the service. METHODS: A cross-sectional survey was administered as a paper and online self-completed questionnaire to TYAs aged 13-24 accessing outpatient, inpatient, and day care cancer services at a regional specialist centre over a 4-week period...
June 20, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/28634702/rectus-abdominis-fat-transfer-raft-in-lipoabdominoplasty-a-new-technique-to-achieve-fitness-body-contour-in-patients-that-require-tummy-tuck
#15
Stefan Danilla
OBJECTIVE: To describe a new technique to achieve a fit-look in lipoabdominoplasty patients through liposculpture and rectus abdominis fat transfer (RAFT). METHODS: Patients with a body mass index under 26 and of both genders scheduled for abdominoplasty or body lift were selected for this procedure. Fat was transferred directly to the rectus abdominis muscle after flap elevation during lipoabdominoplasty. RESULTS: A total of 26 patients were operated on with this technique...
June 20, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28634701/the-50-most-cited-articles-in-facial-plastic-surgery
#16
Michael T Chang, Zachary G Schwam, Christopher A Schutt, Emily M Kamen, Boris Paskhover
Bibliometric analysis is a common method to determine the most influential articles in medical specialties, as it is an objective measure of peer recognition of scientific work. This study is the first bibliometric analysis of the literature in facial plastic surgery, to determine the most cited papers in the field. Bibliometric analysis was performed using the Science Citation Index from the Institute for Scientific Information, accessed through the Web of Science™. Filter terms relevant to the field of facial plastic surgery were used to identify the 50 most cited journal articles between 1900 and 2016...
June 20, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28634700/management-of-tuberous-breast-deformities-review-of-long-term-outcomes-and-patient-satisfaction-with-breast-q
#17
Stefania Tenna, Barbara Cagli, Beniamino Brunetti, Mauro Barone, Paolo Persichetti
BACKGROUND: The treatment of a tuberous breast deformity has changed over the years, with a large variety of procedures described. However, maintaining a long-lasting breast contour is an ongoing challenge. The aim of this study was to evaluate the long-term results of tuberous breast corrections, focusing on the incidence of secondary procedures and patient satisfaction. MATERIALS AND METHODS: Forty-six patients who underwent correction of a tuberous breast deformity from 2000 through 2013 were considered...
June 20, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28634537/a-meta-analysis-of-antibacterial-envelope-use-in-prevention-of-cardiovascular-implantable-electronic-device-infection
#18
Sajid Ali, Yousuf Kanjwal, Steven R Bruhl, Mohammed Alo, Mohammed Taleb, Syed S Ali, Ameer Kabour, Owais Khawaja
OBJECTIVES: Cardiac implantable electronic device (CIED) infection has been a major clinical problem in addition to being a major financial burden. In spite of antimicrobial prophylaxis, CIED infection rates have been increasing disproportionately. We therefore conducted this meta-analysis to assess the role of TYRX antibiotic envelope for the prevention of CIED infection. METHODS: Using extensive online search, we conducted a meta-analysis of studies reporting CIED infections with versus without the use of TYRX antibiotic envelope...
May 2017: Therapeutic Advances in Infectious Disease
https://www.readbyqxmd.com/read/28634517/introduction-of-a-quality-improvement-curriculum-in-the-department-of-internal-medicine-lincoln-medical-center
#19
Usha Venugopal, Moiz Kasubhai, Vikram Paruchuri
Community hospitals with limited resources struggle to engage physicians in Quality improvement initiatives. We introduced Quality Improvement (QI) curriculum for residents in response to ACGME requirements and surveyed the residents understanding of QI and their involvement in QI projects before and after the introduction of the curriculum. The current article describes our experiences with the process, the challenges and possible solutions to have a successful resident led QI initiative in a community hospital...
January 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28634516/online-table-of-contents
#20
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Journal of Community Hospital Internal Medicine Perspectives
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