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https://www.readbyqxmd.com/read/29432522/wdl-rf-predicting-bioactivities-of-ligand-molecules-acting-with-g-protein-coupled-receptors-by-combining-weighted-deep-learning-and-random-forest
#1
Jiansheng Wu, Qiuming Zhang, Weijian Wu, Tao Pang, Haifeng Hu, Wallace K B Chan, Xiaoyan Ke, Yang Zhang, Jonathan Wren
Motivation: Precise assessment of ligand bioactivities (including IC50, EC50, Ki, Kd, etc.) is essential for virtual screening and lead compound identification. However, not all ligands have experimentally-determined activities. In particular, many G protein-coupled receptors (GPCRs), which are the largest integral membrane protein family and represent targets of nearly 40% drugs on the market, lack published experimental data about ligand interactions. Computational methods with the ability to accurately predict the bioactivity of ligands can help efficiently address this problem...
February 8, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29419818/scyl1-variants-cause-a-syndrome-with-low-%C3%AE-glutamyl-transferase-cholestasis-acute-liver-failure-and-neurodegeneration-calfan
#2
Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E Bonnen, Giusy Ranucci, Christian Thiel, Beate K Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan W Himes, Zarife Kuloğlu, Emma L Blakely, Robert W Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F Hoffmann, Tobias B Haack, Christian Staufner
PurposeBiallelic mutations in SCYL1 were recently identified as causing a syndromal disorder characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure. The occurrence of SCYL1 deficiency among patients with previously undetermined infantile cholestasis or acute liver failure has not been studied; furthermore, little is known regarding the hepatic phenotype.MethodsWe aimed to identify patients with SCYL1 variants within an exome-sequencing study of individuals with infantile cholestasis or acute liver failure of unknown etiology...
February 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29362006/disaster-preparedness-in-primary-care-ready-or-not
#3
Micheleen Hashikawa, Katherine J Gold
Purpose To assess perceptions and attitudes toward disasters and disaster planning among outpatient primary care leaders. METHODS: Written surveys and semi-structured interviews of non-physician clinical managers and physician medical directors were conducted using the 2009 H1N1 pandemic as a case-based scenario at 5 university-affiliated family medicine clinics. Domains assessed included perceived pandemic threat; value, existence, and barriers to creating personal disaster plans; staff absenteeism estimates; barriers to work attendance...
January 24, 2018: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29357812/the-invasive-med-q-bemisia-tabaci-genome-a-tale-of-gene-loss-and-gene-gain
#4
Wen Xie, Xin Yang, Chunhai Chen, Zezhong Yang, Litao Guo, Dan Wang, Jinqun Huang, Hailin Zhang, Yanan Wen, Jinyang Zhao, Qingjun Wu, Shaoli Wang, Brad S Coates, Xuguo Zhou, Youjun Zhang
BACKGROUND: Sweetpotato whitefly, Bemisia tabaci MED/Q and MEAM1/B, are two economically important invasive species that cause considerable damages to agriculture crops through direct feeding and indirect vectoring of plant pathogens. Recently, a draft genome of B. tabaci MED/Q has been assembled. In this study, we focus on the genomic comparison between MED/Q and MEAM1/B, with a special interest in MED/Q's genomic signatures that may contribute to the highly invasive nature of this emerging insect pest...
January 22, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29261177/reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#5
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29240075/a-systematic-analysis-of-online-marketing-materials-used-by-providers-of-expanded-carrier-screening
#6
Davit Chokoshvili, Pascal Borry, Danya F Vears
PurposeExpanded carrier screening (ECS) for a large number of recessive disorders is available to prospective parents through commercial providers. This study aimed to analyze the content of marketing materials on ECS providers' websites.MethodsTo identify providers of ECS tests, we undertook a comprehensive online search, reviewed recent academic literature on commercial carrier screening, and consulted with colleagues familiar with the current ECS landscape. The identified websites were archived in April 2017, and inductive content analysis was performed on website text, brochures and educational materials, and video transcripts...
December 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29227155/using-mobile-health-to-improve-social-support-for-low-income-latino-patients-with-diabetes-a-mixed-methods-analysis-of-the-feasibility-trial-of-text-med%C3%A2-%C3%A2-fans
#7
Elizabeth Burner, Chun Nok Lam, Rebecca DeRoss, Marjorie Kagawa Singer, Michael Menchine, Sanjay Arora
BACKGROUND: Social support interventions can improve diabetes self-care, particularly for Latinos, but are time and resource intensive. Mobile health may overcome these barriers by engaging and training supporters remotely. METHODS: We conducted a randomized controlled feasibility trial of emergency department patients with diabetes to determine the feasibility of enrolling patients and supporters, acceptability of the intervention, and preliminary efficacy results to power a larger trial...
December 11, 2017: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/29219637/first-cases-of-hb-agrinio-described-in-patients-from-the-republic-of-macedonia
#8
Marija Dimishkovska, Maja Kuzmanovska, Svetlana Kocheva, Kata Martinova, Oliver Karanfilski, Zlate Stojanoski, Dijana Plaseska-Karanfilska
Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: -α3.7 (rightward), -(α)20.5 and - -MED I deletions and Hb Icaria [α142, Term→Lys (α2), HBA2: c.427T>A] and polyadenylation signal (polyA) [AATAAA>AATGAA (α2), HBA2: c.*92A>G] point mutations. Here, we report two unrelated patients from the Romani population in the Republic of Macedonia, homozygotes for the α2-globin gene variant Hb Agrinio [α29(B10)Leu→Pro; HBA2: c...
December 8, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29209095/life-role-salience-and-subjective-well-being-among-macedonian-employees-does-family-supportive-organization-perception-moderate-this-relationship
#9
Biljana Blaževska Stoilkovska, Orhideja Šurbanovska, Ana Fritzhand, Tatjana Stojanoska Ivanova
OBJECTIVES: As many studies have shown, one of the most important tendencies of employees nowadays is to achieve work- life balance. Organizations should develop various activities and create supportive climate, within the framework of which employees will have opportunities to realize aforementioned goals which in turn would increase work productivity and work motivation. The aim of this paper was to examine how subjective well-being (life satisfaction and exhaustion) is associated with commitment to work and family roles under the conditions of strongly and weakly perceived organizational support for family life among health care professionals, teachers and bankers in Macedonia...
November 29, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/29190404/sex-ed-by-brown-med-a-student-run-curriculum-and-its-impact-on-sexual-health-knowledge
#10
Erica Duh, Sheyla P Medina, Nathan Coppersmith, Naomi Adjei, Mary B Roberts, Susanna Magee
BACKGROUND AND OBJECTIVES: Risky sexual behavior among adolescents is a public health crisis. We describe a novel approach to sexual health education where medical students manage a curriculum for an entire seventh grade in one Rhode Island city to better equip students with comprehensive knowledge about sexual health. METHODS: Medical students were trained to teach 12 sessions to seventh-grade students under the supervision of the classroom teacher using a curriculum designed by medical students and faculty (modeled on the Family Life and Sexual Health [FLASH] curriculum but tailored to meet the community's needs)...
November 2017: Family Medicine
https://www.readbyqxmd.com/read/29162753/assessment-of-pain-in-the-elderly-a-literature-review
#11
REVIEW
Yoon-Sook Kim, Jae-Min Park, Yeon-Sil Moon, Seol-Heui Han
BACKGROUND: Pain perception is highly subjective, and effective pain management can be challenging in the elderly. We aimed to identify a set of practical measures that could be used to assess pain in elderly patients with or without cognitive impairment, as the first step towards effectively managing their pain. METHODS: We used the PRISMA guidelines for this literature review. Two reviewers independently assessed titles, abstracts and full-text articles, and a third reviewer resolved any disagreements...
July 2017: National Medical Journal of India
https://www.readbyqxmd.com/read/29158913/an-implementation-effectiveness-hybrid-trial-of-video-based-family-therapy-for-peripartum-depression-in-home-visited-mothers-a-protocol-for-a-pilot-trial
#12
Fallon Cluxton-Keller, Craig L Donnelly, Melony Williams, Jennifer Buteau, Patricia Stolte, Maggie Monroe-Cassel, Martha L Bruce
Background: The Federal Maternal, Infant, and Early Childhood Home Visiting (HV) Program serves over 100,000 vulnerable families at risk for child abuse in the USA and aims to improve many outcomes, including maternal mental health (HRSA's Federal Home Visiting Program: partnering with parents to help children succeed, 2017). Most clients are insured by Medicaid, and about 40% are adolescent mothers (pregnant and post-delivery) (The mother and infant home visiting program evaluation: early findings on the Maternal, Infant, and Early Childhood Home Visiting Program, 2015)...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/29110804/association-between-marijuana-use-and-sexual-frequency-in-the-united-states-a-population-based-study
#13
Andrew J Sun, Michael L Eisenberg
BACKGROUND: Marijuana use is increasingly prevalent in the United States. Effects of marijuana use on sexual function are unclear, with contradictory reports of enhancement and detriment existing. AIM: To elucidate whether a relation between marijuana use and sexual frequency exists using a nationally representative sample of reproductive-age men and women. METHODS: We analyzed data from cycle 6 (2002), cycle 7 (2006-2010), and continuous survey (2011-2015) administrations of the National Survey of Family Growth, a nationally representative cross-sectional survey...
November 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29110803/sexual-dysfunction-in-primary-care-an-exploratory-descriptive-analysis-of-medical-record-diagnoses
#14
Katie M Heiden-Rootes, Joanne Salas, Sarah Gebauer, Matthew Witthaus, Jeffrey Scherrer, Kristin McDaniel, Dasha Carver
BACKGROUND: The prevalence of sexual dysfunction (SDx) diagnoses in primary care settings is not well known, which is a concern because of the high prevalence of comorbid chronic health conditions in patients diagnosed with SDx. AIM: To explore the relation of SDx diagnosis, chronic health conditions, and prescription medications commonly associated with SDx for men and women in primary care using medical records diagnoses. METHODS: Exploratory descriptive analyses were used to interpret secondary data from a primary care patient database...
November 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/29090069/the-frequency-and-importance-of-common-%C3%AE-globin-gene-deletions-among-%C3%AE-thalassemia-carriers-in-an-iranian-population
#15
Azam Moosavi, Ali M Ardekani
BACKGROUND: β-thalassemia is the most common monogenic disorder in Iran, and one of the challenges in the screening of the carriers is the coinheritance of α-thalassemia mutations. In the view of high prevalence of α-thalassemia mutations in many parts of the country, the aim of this study was to determine the carrier frequency of common alpha deletions, as a secondary modifier in clinical manifestations of beta thalassemia, in known beta-thalassemia carriers and some hematology parameter changes...
October 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/29056100/international-adoption-of-children-surviving-the-haitian-earthquake
#16
Julie Pascal, Marion Décombas-Marion, Véronique Poirier, Alexandre Lautrette, Emilie Rigal, Julie Sciauvaud, Bruno Pereira, André Labbe, Olivier Lesens
OBJECTIVE: To evaluate resilience and frequency of behavioral symptoms in Haitian children internationally adopted before and after the earthquake of January 12, 2010. METHODS: We conducted a retrospective quantitative study in 40 Haitian children. Families were also asked to participate in a qualitative study (individual interview at 18-24 months after the earthquake) and to complete State-Trait Anxiety Inventory (STAI) and STAI for children (STAI-C) questionnaires...
October 23, 2017: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/29052652/types-of-work-related-behavior-and-experiences-and-stress-coping-strategies-among-single-mothers-and-mothers-in-relationships-differentiating-role-of-work-satisfaction
#17
Elżbieta Napora, Anna Andruszkiewicz, Małgorzata Anna Basińska
OBJECTIVES: The purpose of the study has been to describe functioning of single and mothers in relationships (married or in informal relationships) at work and verify if the declared degree of work satisfaction differentiates types of behavior at work and stress coping strategies in both groups of mothers. MATERIAL AND METHODS: The study was conducted on equal samples of single mothers (N = 186) and mothers from 2-parent families (N = 186) using Latack Coping Scale that measures work-related stress coping strategies, the AVEM (Arbeitsbezogenes Verhaltens- und Erlebensmuster - Work-Related Behavior and Experience Pattern) questionnaire, and a survey...
October 18, 2017: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/29024831/multiple-slc26a2-mutations-occurring-in-a-three-generational-family
#18
Ana Coral Barreda-Bonis, Jimena Barraza-García, Manuel Parrón, Ignacio Pastor, Karen E Heath, Isabel González-Casado
Multiple epiphyseal dysplasias (MED) are a group of heterogeneous skeletal dysplasias, which share a common phenotype: short stature, skeletal deformities, joint pain and early onset osteoarthritis. Mutations in COMP account for approximately half of autosomal dominant MED cases whilst SLC26A2 mutations account for ∼25% of the recessive cases in the Caucasian population. We present here an interesting family, which was thought to initially have an autosomal dominant skeletal dysplasia. Using a targeted sequencing skeletal dysplasia panel, the proband was found to be a compound heterozygote for two mutations in SLC26A2, one novel mutation, p...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29024770/biochemical-biological-and-molecular-characterization-of-an-l-amino-acid-oxidase-laao-purified-from-bothrops-pictus-peruvian-snake-venom
#19
Fanny Lazo, Dan E Vivas-Ruiz, Gustavo A Sandoval, Edith F Rodríguez, Edgar E G Kozlova, F Costal-Oliveira, Carlos Chávez-Olórtegui, Ruperto Severino, Armando Yarlequé, Eladio F Sanchez
An L-amino acid oxidase from Peruvian Bothrops pictus (Bpic-LAAO) snake venom was purified using a combination of size-exclusion and ion-exchange chromatography. Bpic-LAAO is a homodimeric glycosylated flavoprotein with molecular mass of ∼65 kDa under reducing conditions and ∼132 kDa in its native form as analyzed by SDS-PAGE and gel filtration chromatography, respectively. N-terminal amino acid sequencing showed highly conserved residues in a glutamine-rich motif related to binding substrate. The enzyme exhibited optimal activity towards L-Leu at pH 8...
December 1, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28991270/how-job-and-family-demands-impact-change-in-perceived-stress-a-dyadic-study
#20
Ewelina Smoktunowicz, Roman Cieślak
OBJECTIVES: The aim of this two-wave study has been to test the spillover and crossover of job and family demands on changes in perceived stress at work and in the family. Specifically, we proposed that demands from one domain (work or family) spilled over to another domain through interrrole conflict (work-family/family-work conflict) and context-specific self-efficacy. Additionally, we hypothesized that changes in perceived stress were impacted not only by a person's own demands through interrole conflict but also by the demands of one's significant other, in the process of crossover...
October 9, 2017: International Journal of Occupational Medicine and Environmental Health
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