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Antonella Sferra, Fabiana Fattori, Teresa Rizza, Elsabetta Flex, Emanuele Bellacchio, Alessandro Bruselles, Stefania Petrini, Serena Cecchetti, Massimo Teson, Fabrizia Restaldi, Andrea Ciolfi, Filippo M Santorelli, Ginevra Zanni, Sabina Barresi, Claudia Castiglioni, Marco Tartaglia, Enrico Bertini
Microtubules participate in fundamental cellular processes, including chromosomal segregation and cell division, migration, and intracellular trafficking. Their proper function is required for correct central nervous system development and operative preservation, and mutations in genes coding tubulins, the constituting units of microtubules, underlie a family of neurodevelopmental and neurodegenerative diseases, collectively known as "tubulinopathies", characterized by a wide range of neuronal defects resulting from defective proliferation, migration, and function...
March 14, 2018: Human Molecular Genetics
Wouter De Coster, Svenn D'Hert, Darrin T Schultz, Marc Cruts, Christine Van Broeckhoven
Summary: Here we describe NanoPack, a set of tools developed for visualization and processing of long read sequencing data from Oxford Nanopore Technologies and Pacific Biosciences. Availability and Implementation: The NanoPack tools are written in Python3 and released under the GNU GPL3.0 License. The source code can be found at, together with links to separate scripts and their documentation. The scripts are compatible with Linux, Mac OS and the MS Windows 10 subsystem for Linux and are available as a graphical user interface, a web service at http://nanoplot...
March 14, 2018: Bioinformatics
Krystin A Engelhardt, Elizabeth Hisle-Gorman, Gregory H Gorman, Nicole R Dobson
Background: The Military Health System (MHS) provides universal access to medical care to active duty service members, retirees, and their dependents. Observational data from small studies suggest lower preterm birth rates in the MHS compared with U.S. national averages. The objectives of this study are to determine the rate of preterm birth in the MHS from 2006 to 2012 compared with national rates and to analyze the impact of demographic factors on preterm birth in a universal access health care system...
March 14, 2018: Military Medicine
Sharon Reif, Rachel Sayko Adams, Grant A Ritter, Thomas V Williams, Mary Jo Larson
Introduction: Soldiers are at risk for acute and chronic pain due to the mental and physical challenges of military duties and ongoing training for force readiness. With the burden of pain on any individual attributable across pain sources, a broad perspective that goes beyond prior characterizations of pain is important. We aim to further the understanding of pain's effects among non-deployed active duty soldiers and the Military Health System (MHS), by describing prevalence of 10 painful conditions, reported pain levels, duration of pain and impact of pain on military duty limitations...
March 14, 2018: Military Medicine
Igor Mandric, Sergey Knyazev, Alex Zelikovsky
Summary: Genomic sequences are assembled into a variable, but large number of contigs that should be scaffolded (ordered and oriented) for facilitating comparative or functional analysis. Finding scaffolding is computationally challenging due to misassemblies, inconsistent coverage across the genome, and long repeats. An accurate assessment of scaffolding tools should take into account multiple locations of the same contig on the reference scaffolding rather than matching a repeat to a single best location...
March 14, 2018: Bioinformatics
Paula A Aduen, Michael J Kofler, Dustin E Sarver, Erica L Wells, Elia F Soto, Daniel J Cox
ADHD is associated with automobile crashes, traffic fatalities, and serious road trauma, but it is unclear whether this risk is (a) driven by ADHD symptoms specifically, and (b) unique to ADHD or transdiagnostic across psychiatric disabilities, such as depression, that also have concentration problems as core symptoms. The current study provides the first prospective, continuously-monitored evaluation of crash risk related to ADHD symptoms, including the first on-road comparison of ADHD with another high-prevalence psychiatric disability (depression)...
March 6, 2018: Journal of Psychiatric Research
Kiwoung Yang, Ujjal Kumar Nath, Manosh Kumar Biswas, Md Abdul Kayum, Go-Eun Yi, Jonghoon Lee, Tae-Jin Yang, Ill-Sup Nou
Plant mitochondrial genomes (mtDNAs) vary in sequence structure. We assembled the Brassica oleracea var. capitata mtDNA using a mean coverage depth of 25X whole genome sequencing (WGS) and confirmed the presence of eight contigs/fragments by BLASTZ using the previously reported KJ820683 and AP012988 mtDNA as reference. Assembly of the mtDNA sequence reads resulted in a circular structure of 219,975 bp. Our assembled mtDNA, NCBI acc. no. KU831325, contained 34 protein-coding genes, 3 rRNA genes, and 19 tRNA genes with similarity to the KJ820683 and AP012988 reference mtDNA...
2018: PloS One
Xiang Jiao, Wen Liu, Hovsep Mahdessian, Patrick Bryant, Jenny Ringdahl, Maria Timofeeva, Susan M Farrington, Malcolm Dunlop, Annika Lindblom
Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear. In order to discover low-frequency, high-risk CRC susceptibility variants in Swedish population, we genotyped 1 515 CRC patients enriched for familial cases, and 12 108 controls. Case/control association analysis suggested eight novel variants associated with CRC risk (OR 2.0-17.6, p-value < 2.0E-07), comprised of seven coding variants in genes RAB11FIP5, POTEA, COL27A1, MUC5B, PSMA8, MYH7B, and PABPC1L as well as one variant downstream of NEU1 gene...
2018: PloS One
Renata Gruszka, Magdalena Zakrzewska
The fundamental function of ribonucleic acids is to transfer genetic information from DNA to protein during translation process, however, this is not the only way connecting active RNA sequences with essential biological processes. Up until now, many RNA subclasses of different size, structure, and biological function were identified. Among them, there are non-coding single-stranded microRNAs (miRNAs). This subclass comprises RNAs of 19-25 nucleotides in length that modulate the activity of well-defined coding RNAs and play a crucial role in many physiological and pathological processes...
March 16, 2018: International Journal of Molecular Sciences
William Martinez, James W Pichert, Gerald B Hickson, Casey H Braddy, Amy J Brown, Thomas F Catron, Ilene N Moore, Morgan R Stampfle, Lynn E Webb, William O Cooper
OBJECTIVES: The aims of the study were to develop a valid and reliable taxonomy of coworker reports of alleged unprofessional behavior by physicians and advanced practice professionals and determine the prevalence of reports describing particular types of unprofessional conduct. METHODS: We conducted qualitative content analysis of coworker reports of alleged unprofessional behavior by physicians and advanced practice professionals to create a standardized taxonomy...
March 15, 2018: Journal of Patient Safety
Gloria M Salazar, Kristine Specht Burk, Hani Abujudeh
OBJECTIVE: The purpose of this article is to classify complaints from patients undergoing image-guided interventions using a coding taxonomy and to test whether single-coded complaints were resolved satisfactorily compared with multifactorial (multiple codes) complaints. MATERIALS AND METHODS: In this retrospective study, patients' complaint narratives between April 1999 and December 2012 were reviewed and categorized according to a three-level taxonomy into domains and codes...
March 16, 2018: AJR. American Journal of Roentgenology
Tomoya Takabayashi, Mutsuaki Edama, Erika Yokoyama, Chiaki Kanaya, Takuma Inai, Yuta Tokunaga, Masayoshi Kubo
BACKGROUND: Understanding the concept of kinematic coupling is essential when selecting the appropriate therapeutic strategy and grasping mechanisms for the occurrence of injuries. A previous study reported that kinematic coupling between the rearfoot and shank during running and walking were different. However, because foot mobility involves not only the rearfoot but also the midfoot or forefoot, kinematic coupling is likely to occur among the rearfoot, midfoot, and forefoot segments...
January 2018: Journal of the American Podiatric Medical Association
Franka Metzner, Stephanie Pahlke, Alice Diesing, Nina Marin, Fionna Klasen, Silke Pawils, Michael Schulte-Markwort, Hertha Richter-Appelt
Complex Trauma-related Disorders in Research and Practice Frequent traumata in childhood and adolescence are long-term or repeated interpersonal traumata caused by perpetrators in the close environment of the minors. For the description of the extensive symptoms after interpersonal Type II traumata, the complex trauma-related disorders Complex Posttraumatic Stress Disorder (CPTSD) or Disorder of Extreme Stress Not Otherwise Specified (DESNOS) and the Developmental Trauma Disorder (DTD) are being discussed for inclusion in the classification systems for mental disorders...
March 2018: Praxis der Kinderpsychologie und Kinderpsychiatrie
L B Amsden, P T Davidson, H B Fevrier, R Goldfien, L J Herrinton
Purpose To better understand diagnostic delay and doctor-patient communication during the diagnosis of systemic lupus erythematous in patients without malar rash, we conducted a qualitative study of primary care providers' perceptions. Methods We conducted in-depth interviews with a purposive sample of eight primary care physicians in Kaiser Permanente Northern California. Telephone interviews were recorded, transcribed, reviewed, and coded for domains and themes. Results We identified five domains related to diagnosis: initial assessment and tests, initial diagnosis and empiric treatment, timeliness of diagnosis, communicating with the patient, and opportunities for improvement...
January 1, 2018: Lupus
Koh-Hei Yamada, Ryuichi Majima, Toyofumi Yamaguchi, Naoki Inoue
Background Previously, we established a reporter cell line for human cytomegalovirus and screened anti-human cytomegalovirus compounds using the cell line. In this study, we characterized one of the identified compounds, 2,4-diamino-6-(4-methoxyphenyl)pyrimidine (coded as 35C10). Methods 50% Effective concentrations (EC50s) and 50% cytotoxic concentrations (CC50s) of 35C10 and its derivatives in human fibroblasts were determined by X-gal staining of the cells infected with human cytomegalovirus Towne strain expressing β-galactosidase...
January 2018: Antiviral Chemistry & Chemotherapy
Silvina M Y López, Ma Dolores Molina Sánchez, Graciela N Pastorino, Mario E E Franco, Nicolás Toro García, Pedro A Balatti
The purpose of this work was to study further two Bradyrhizobium japonicum strains with high nitrogen-fixing capacity that were identified within a collection of approximately 200 isolates from the soils of Argentina. Nodulation and nitrogen-fixing capacity and the level of expression of regulatory as well as structural genes of nitrogen fixation and the 1-aminocyclopropane-1-carboxylate (ACC) deaminase gene of the isolates were compared with that of E109-inoculated plants. Both isolates of B. japonicum, 163 and 366, were highly efficient to fix nitrogen compared to commercial strain E109...
March 15, 2018: Current Microbiology
Kimberly Coughlin, R David Hayward, Mary Fessler, Elango Edhayan
OBJECTIVES: Although individual socioeconomic status has been linked with risk of traumatic injury, there has been relatively little research into the question of how economic changes may impact trauma admission rates in neighborhoods with different socioeconomic backgrounds. METHODS: This study pairs ZIP code-level data on trauma admissions with county-level data on unemployment to assess differences in the type of changes experienced in more and less affluent neighborhoods of the Detroit metropolitan area between 2006 and 2014...
March 15, 2018: International Journal of Public Health
Marcela Ewing, Peter Naredi, Chenyang Zhang, Jörgen Månsson
Background: Many patients with common cancers are late diagnosed. Objectives: Identify consultation profiles and clinical features in patients with the seven most common cancers, who had consulted a general practitioner (GP) frequently before their cancer diagnosis. Methods: A case-control study was conducted in Region Västra Götaland, Sweden. A total of 2570 patients, diagnosed in 2011 with prostate, breast, colorectal, lung, gynaecological and skin cancers including malignant melanoma, and 9424 controls were selected from the Swedish Cancer Register and a regional health care database...
March 13, 2018: Family Practice
Zhiyi Qin, Peter Stoilov, Xuegong Zhang, Yi Xing
Alternative first exons diversify the transcriptomes of eukaryotes by producing variants of the 5' Untranslated Regions (5'UTRs) and N-terminal coding sequences. Accurate transcriptome-wide detection of alternative first exons typically requires specialized experimental approaches that are designed to identify the 5' ends of transcripts. We developed a computational pipeline SEASTAR that identifies first exons from RNA-seq data alone then quantifies and compares alternative first exon usage across multiple biological conditions...
March 13, 2018: Nucleic Acids Research
Cyndya A Shibao, Jorge E Celedonio, Robyn Tamboli, Reem Sidani, Latisha Love-Gregory, Terri Pietka, Yanhua Xiong, Yan Wei, Naji N Abumrad, Nada A Abumrad, Charles Robb Flynn
Context: Abnormal fatty acid (FA) metabolism contributes to diabetes and cardiovascular disease. The FA receptor CD36 has been linked to risk of metabolic syndrome. In rodents CD36 regulates various aspects of fat metabolism but whether it has similar actions in humans is unknown. We examined impact of a coding single-nucleotide polymorphism in CD36 on post-prandial hormone and bile acid (BA) responses. Objective: To examine if the minor allele (G) of coding CD36 variant rs3211938 (G/T) which reduces CD36 level by approximately 50% influences hormonal responses to a high-fat meal (HFM)...
March 12, 2018: Journal of Clinical Endocrinology and Metabolism
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