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Ahmed Alfares, Taghrid Aloraini, Lamia Al Subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Mohammed Albalwi, Saeed Alturki, Majid Alfadhel
PurposeWhole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.MethodsVariant call format files were generated and raw data analysis was performed in cases in which the final molecular results showed discrepancies. We classified the possible explanations for the discrepancies into three categories: the time interval between the two tests, the technical limitations of WES, and the impact of the sequencing system type...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ayman Alhazmi, Reneva Petersen, Kirsten A Donald
OBJECTIVE: To describe the quality of life (QOL) of South African parents caring for children with autism spectrum disorder (ASD) as compared with parents of typically developing (TD) children from the same community. METHODS: A cross-sectional study was done evaluating the QOL of parents of 52 children (26 parents of children with ASD versus 26 parents of TD children) using a structured measure, (World Health Organization Quality of Life Assessment-BREF). RESULTS: The mean age of the children with ASD was 64...
March 22, 2018: Acta Neuropsychiatrica
Sally Agersborg, Christopher Mixon, Thanh Nguyen, Sramila Aithal, Sucha Sudarsanam, Forrest Blocker, Lawrence Weiss, Robert Gasparini, Shiping Jiang, Wayne Chen, Gregory Hess, Maher Albitar
PURPOSE: While HER2 testing is well established in directing appropriate treatment for breast cancer, a small percentage of cases show equivocal results by immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). Alternative probes may be used in equivocal cases. We present a single community-based institution's experience in further evaluating these cases. PATIENTS AND METHODS: Between 2014 and 2016, 4255 samples were submitted for HER2 amplification testing by alternative probes, TP53, RAI1, and RARA...
March 22, 2018: Breast Cancer Research and Treatment
Chelsea Ryan, Kathryn L Duvall, Emily C Weyant, Kiana R Johnson, David Wood
Though vaccine uptake and public support have risen since the release of the first HPV vaccines, the United States has far lower initiation and completion rates for the HPV vaccine series in comparison to other vaccines indicated for youth. Disparities are even greater in the Appalachian regions. Understanding factors contributing to these discrepancies is vital to improving vaccine rates in Appalachia. A comprehensive literature search identified all articles pertaining to HPV vaccination in children and adolescents living in Appalachia...
March 21, 2018: Journal of Community Health
Alessandra Moletto, Irene Bagnasco, Patrizia Dassi, Piernanda Vigliano
OBJECTIVE: To study the long-term neurocognitive changes of a right-handed girl with intractable epilepsy after late right hemispherectomy and compare them with data in the literature. METHOD: The girl was affected by an epileptic encephalopathy associated with right fronto-temporo-parietal polymicrogyria; she was submitted to right hemispherectomy at the age of 5 and examined with cognitive and neuropsychological tests at the age of 17 years. The girl took advantage of neurocognitive rehabilitation for several years; she is currently seizure-free and off therapy...
March 21, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
João Cruz, Vasco Mascarenhas
Muscle injuries are one of the major problems facing elite athletes, representing a significant source of time lost from competition, with substantial consequences for teams and athletes. There are considerable pressures for a rapid return, but players who return to competition too soon have an increased risk of recurrent muscle injuries, which are associated with longer lay-offs. Imaging plays a key role in achieving the correct diagnosis, and magnetic resonance imaging (MRI) has emerged as the method of choice for skeletal muscle imaging...
March 21, 2018: Skeletal Radiology
Bethany M Henrick, Andra A Hutton, Michelle C Palumbo, Giorgio Casaburi, Ryan D Mitchell, Mark A Underwood, Jennifer T Smilowitz, Steven A Frese
Historically, Bifidobacterium species were reported as abundant in the breastfed infant gut. However, recent studies in resource-rich countries show an increased abundance of taxa regarded as signatures of dysbiosis. It is unclear whether these differences are the product of genetics, geographic factors, or interventions such as formula feeding, antibiotics, and caesarean section. Fecal pH is strongly associated with Bifidobacterium abundance; thus, pH could be an indicator of its historical abundance. A review of 14 clinical studies published between 1926 and 2017, representing more than 312 healthy breastfed infants, demonstrated a change in fecal pH from 5...
March 2018: MSphere
Max L Tietze, Johannes Benduhn, Paul Pahner, Bernhard Nell, Martin Schwarze, Hans Kleemann, Markus Krammer, Karin Zojer, Koen Vandewal, Karl Leo
Fermi level control by doping is established since decades in inorganic semiconductors and has been successfully introduced in organic semiconductors. Despite its commercial success in the multi-billion OLED display business, molecular doping is little understood, with its elementary steps controversially discussed and mostly-empirical-materials design. Particularly puzzling is the efficient carrier release, despite a presumably large Coulomb barrier. Here we quantitatively investigate doping as a two-step process, involving single-electron transfer from donor to acceptor molecules and subsequent dissociation of the ground-state integer-charge transfer complex (ICTC)...
March 21, 2018: Nature Communications
S Yoshida, K Tsuyuguchi, T Kobayashi, M Tomita, Y Inoue, S Hayashi, K Suzuki
SETTING: Macrolides are a key drug class used for the treatment of Mycobacterium abscessus complex disease. OBJECTIVE: To verify the relationship between phenotypic susceptibility and genotypic resistance to clarithromycin (CLM). DESIGN: Subspecies of M. abscessus complex from 145 consecutive patients were identified using hsp65 and rpoB gene sequencing, and tested for CLM susceptibility, classification into the erm(41) sequevars responsible for inducible resistance and the presence of rrl mutations associated with acquired resistance...
April 1, 2018: International Journal of Tuberculosis and Lung Disease
Catharina Gustavsson, Maria Nordqvist, Kristina Bröms, Lars Jerdén, Lena V Kallings, Lars Wallin
BACKGROUND: The method, Swedish Physical Activity on Prescription (SPAP), has been launched in Swedish healthcare to promote physical activity for prevention and treatment of lifestyle related health disorders. Despite scientific support for the method, and education campaigns, it is used to a limited extent by health professionals. The aim of the study was to describe the views of health professionals on perceived facilitators, barriers and requirements for successful implementation of SPAP in primary healthcare...
March 21, 2018: BMC Health Services Research
Yuriy L Orlov, Ancha V Baranova
After publication of the article [1], it has been brought to our attention that there is a discrepancy between the publication date on the pdf and online formats. The date on the pdf is 6th February 2018 and online is 5th February 2018. The correct publication date is the one on the pdf, 6th February 2018.
March 21, 2018: BMC Structural Biology
Sebastian Isbaner, Narain Karedla, Izabela Kaminska, Daja Ruhlandt, Mario Raab, Johann Bohlen, Alexey I Chizhik, Ingo Gregor, Philip Tinnefeld, Joerg Enderlein, Roman Tsukanov
Single-molecule localization based super-resolution microscopy has revolutionized optical microscopy and routinely allows for resolving structural details down to a few nanometers. However, there exists a rather large discrepancy between lateral and axial localization accuracy, the latter typically three to five times worse than the former. Here, we use single-molecule Metal Induced Energy Transfer (smMIET) to localize single molecules along the optical axis, and to measure their axial distance with an accuracy of 5 nm...
March 21, 2018: Nano Letters
Georgios D Sideridis, Cengiz Zopluoglu
The purpose of the present study was to evaluate various analytical means to detect academic cheating in an experimental setting. The omega index was compared and contrasted given a gold criterion of academic cheating which entailed a discrepant score between two administrations using an experimental study with real test takers. Participants were 164 elementary school students who were administered a mathematics exam followed by an equivalent mock exam under conditions of strict and relaxed, invigilation, respectively...
2018: Journal of Applied Measurement
Soo-Yeon Kim, Young-Chel Park, Kee-Joon Lee, Andreas Lintermann, Sang-Sun Han, Hyung-Seog Yu, Yoon Jeong Choi
OBJECTIVES: To evaluate changes in the volume and cross-sectional area of the nasal airway before and 1 year after nonsurgical miniscrew-assisted rapid maxillary expansion (MARME) in young adults. MATERIALS AND METHODS: Fourteen patients (mean age, 22.7 years; 10 women, four men) with a transverse discrepancy who underwent cone beam computed tomography before (T0), immediately after (T1), and 1 year after (T2) expansion were retrospectively included in this study...
March 21, 2018: Angle Orthodontist
Pernille Just Vinholt, Anne B Alnor, Mads Nybo, Anne-Mette Hvas
: In thrombocytopenia, differences in haemostatic capacity may explain discrepancies in bleeding risk between patients with cancer and patients with liver cirrhosis. The objective was to compare the haemostatic capacity in different thrombocytopenic patient populations. We evaluated platelet aggregation using impedance aggregometry (Multiplate Analyzer), von Willebrand factor antigen (VWF:Ag), VWF:ristocetin-cofactor activity (VWF:RCo), activated partial thromboplastin time (aPTT), coagulation factor VIII, fibrinogen, and thrombin generation in adult hospitalized patients with platelet count less than 80 × 10/l...
March 19, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Javad Heshmati, Mahdi Sepidarkish, Nazli Namazi, Fatemeh Shokri, Mahsa Yavari, Siavash Fazelian, Masoud Khorshidi, Farzad Shidfar
Dyslipidemia is the main risk factor for developing cardiovascular disease. There are discrepancies in the effects of calcium supplementation on modulation of lipid status. Therefore, we aimed to summarize the effects of dietary calcium supplement on circulating lipoprotein concentrations and atherogenic indices in overweight and obese individuals. We conducted a systematic literature search from 2000 until July 2016. PubMed, Scopus, Cochran Library, and ISI Web of Science databases were searched for clinical trials written in English...
March 21, 2018: Journal of Dietary Supplements
Sang Beom Kim, Sook Joung Lee, Kyeong Woo Lee, Jong Hwa Lee, Dong Won Kim
Objective: To demonstrate the usefulness of early videofluoroscopic swallowing study (VFSS) and to investigate change patterns in dietary methods in stroke patients with dysphagia. Methods: The VFSS was performed within 7 days of stroke onset in neurologically stable patients. The patients were divided into three groups according to type of brain lesion: cortical lesion (CL), subcortical lesion (SCL), and brainstem/cerebellar lesion (BCL). Based on the VFSS results, this study investigated change patterns in feeding method and discrepancies in the aspiration risk predicted by the Water Swallowing Test (WST) and the VFSS...
February 2018: Annals of Rehabilitation Medicine
Dae Y Han, Lijun Ma, Steve Braunstein, David Raleigh, Patricia K Sneed, Michael McDermott
Background and Objectives Intra-parenchymal brain surgical resection cavities usually contract in volume following low dose rate (LDR) brachytherapy implants. In this study, we systematically modeled and assessed dose variability resulting from such changes for I-125 versus Cs-131 radioactive sources. Methods Resection cavity contraction was modeled based on 95 consecutive patient cases, using surveillance magnetic resonance (MR) images. The model was derived for single point source geometry and then fully simulated in 3D where I-125 or Cs-131 seeds were placed on the surface of an ellipsoidal resection cavity...
January 16, 2018: Curēus
Jura L Augustinavicius, M Claire Greene, Daniel P Lakin, Wietse A Tol
Background: Monitoring and evaluation of mental health and psychosocial support (MHPSS) programs is critical to facilitating learning and providing accountability to stakeholders. As part of an inter-agency effort to develop recommendations on MHPSS monitoring and evaluation, this scoping review aimed to identify the terminology and focus of monitoring and evaluation frameworks in this field. Methods: We collected program documents (logical frameworks (logframes) and theories of change) from members of the Inter-Agency Standing Committee Reference Group on MHPSS, and systematically searched the peer-reviewed literature across five databases...
2018: Conflict and Health
Manoj P Dandekar, Tao Peng, David D McPherson, Joao Quevedo, Jair C Soares, Shaoling Huang
AIM: Similar to ketamine, xenon gas acts as a glutamatergic N-methyl-d -aspartate receptor antagonist, but devoid of propensity to cause untoward effects. Herein, we loaded xenon gas into a liposomal carrier called xenon-containing liposomes (Xe-liposome) for systemic delivery, and investigated its effect as an antidepressant and also analyzed synaptic biomarkers including brain-derived neurotrophic factor (BDNF), protein kinase B (AKT), mammalian target of rapamycin (mTOR), protein kinase C (PKC) and extracellular signal-regulated kinase-1/2 (ERK1/2) in blood and brain...
March 17, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
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