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https://www.readbyqxmd.com/read/29130150/predictors-of-adverse-psychological-experiences-surrounding-genome-wide-profiling-for-disease-risk
#1
K M Broady, K E Ormond, E J Topol, N J Schork, Cinnamon S Bloss
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results...
November 13, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29129805/rare-genetic-diseases-update-on-diagnosis-treatment-and-online-resources
#2
REVIEW
Robert E Pogue, Denise P Cavalcanti, Shreya Shanker, Rosangela V Andrade, Lana R Aguiar, Juliana L de Carvalho, Fabrício F Costa
Rare genetic diseases collectively impact a significant portion of the world's population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders...
November 10, 2017: Drug Discovery Today
https://www.readbyqxmd.com/read/29128296/sexual-and-reproductive-health-care-receipt-among-young-males-aged-15-24
#3
Arik V Marcell, Susannah E Gibbs, Nanlesta A Pilgrim, Kathleen R Page, Renata Arrington-Sanders, Jacky M Jennings, Penny S Loosier, Patricia J Dittus
PURPOSE: This study aimed to describe young men's sexual and reproductive health care (SRHC) receipt by sexual behavior and factors associated with greater SRHC receipt. METHODS: There were 427 male patients aged 15-24 who were recruited from 3 primary care and 2 sexually transmitted disease (STD) clinics in 1 urban city. Immediately after the visit, the survey assessed receipt of 18 recommended SRHC services across four domains: screening history (sexual health, STD/HIV test, family planning); laboratories (STDs/HIV); condom products (condoms/lubrication); and counseling (STD/HIV risk reduction, family planning, condoms); in addition, demographic, sexual behavior, and visit characteristics were examined...
November 8, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/29123209/chromatin-protamination-and-catsper-expression-in-spermatozoa-predict-clinical-outcomes-after-assisted-reproduction-programs
#4
S Marchiani, L Tamburrino, F Benini, L Fanfani, R Dolce, G Rastrelli, M Maggi, S Pellegrini, E Baldi
Identification of parameters predicting assisted reproductive technologies (ARTs) success is a major goal of research in reproduction. Quality of gametes is essential to achieve good quality embryos and increase the success of ARTs. We evaluated two sperm parameters, chromatin maturity and expression of the sperm specific calcium channel CATSPER, in relation to ART outcomes in 206 couples undergoing ARTs. Chromatin maturity was evaluated by Chromomycin A3 (CMA3) for protamination and Aniline Blue (AB) for histone persistence and CATSPER expression by a flow cytometric method...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29120970/effect-of-smoking-status-on-exercise-perception-and-intentions-for-cardiac-rehabilitation-enrollment-among-patients-hospitalized-with-an-acute-cardiac-condition
#5
Hayden Riley, Samuel Headley, Christa Winter, Sara Mazur, Diann E Gaalema, Sarah Goff, Peter K Lindenauer, Quinn R Pack
PURPOSE: Cardiac rehabilitation (CR) attendance has been associated with higher smoking cessation (SC) rates. However, for unclear reasons, smokers are consistently less likely to enroll in CR than nonsmokers, and it is uncertain what might encourage them to attend. METHODS: We surveyed patients eligible for CR who were cigarette smokers at the time of hospital admission. We assessed patient intention to quit smoking, start exercising, and enroll in CR. We also measured anxiety and depression levels...
November 8, 2017: Journal of Cardiopulmonary Rehabilitation and Prevention
https://www.readbyqxmd.com/read/29112656/interpregnancy-interval-after-pregnancy-loss-and-risk-of-repeat-miscarriage
#6
Alexandra C Sundermann, Katherine E Hartmann, Sarah H Jones, Eric S Torstenson, Digna R Velez Edwards
OBJECTIVE: To assess whether interpregnancy interval length after a pregnancy loss is associated with risk of repeat miscarriage. METHODS: This analysis includes pregnant women participating in the Right From the Start (2000-2012) community-based prospective cohort study whose most recent pregnancy before enrollment ended in miscarriage. Interpregnancy interval was defined as the time between a prior miscarriage and the last menstrual period of the study pregnancy...
November 3, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29077208/clinical-efficacy-of-a-next-generation-sequencing-gene-panel-for-primary-immunodeficiency-diagnostics
#7
W Rae, D Ward, C Mattocks, R J Pengelly, E Eren, S V Patel, S N Faust, D Hunt, A P Williams
Primary immunodeficiencies (PIDs) are rare monogenic inborn errors of immunity that result in impairment of functions of the human immune system. PIDs have a broad phenotype with increased morbidity and mortality and treatment choices are often complex. With increased accessibility of next-generation sequencing the rate of discovery of genetic causes for PID has increased exponentially. Identification of an underlying monogenic diagnosis provides important clinical benefits for patients with the potential to alter treatments, facilitate genetic counselling, and pre-implantation diagnostics...
October 27, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29072976/international-assessment-of-event-free-survival-at-24-months-and-subsequent-survival-in-peripheral-t-cell-lymphoma
#8
Matthew J Maurer, Fredrik Ellin, Line Srour, Mats Jerkeman, N Nora Bennani, Joseph M Connors, Graham W Slack, Karin E Smedby, Stephen M Ansell, Brian K Link, James R Cerhan, Thomas Relander, Kerry J Savage, Andrew L Feldman
Purpose Peripheral T-cell lymphomas (PTCLs) have aggressive clinical behavior. We have previously shown that event-free survival (EFS) at 24 months (EFS24) is a clinically useful end point in diffuse large B-cell lymphoma. Here, we assess EFS24 and subsequent overall survival (OS) in large, multinational PTCL cohorts. Patients and Methods Patients with systemic PTCL newly diagnosed from 2000 to 2012 and treated with curative intent were included from the United States and Sweden (initial cohorts) and from Canada (replication cohort)...
October 26, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29054831/web-based-information-on-the-treatment-of-tobacco-dependence-for-oral-health-professionals-analysis-of-english-written-websites
#9
Márcio Diniz-Freitas, Angel Insua, Ross Keat, Jean Christophe Fricain, Sylvain Catros, Luis Monteiro, Luis Silva, Giovanni Lodi, Alberto Pispero, Rui Albuquerque
BACKGROUND: Studies have been conducted on the content and quality of Web-based information for patients who are interested in smoking cessation advice and for health care practitioners regarding the content of e-learning programs about tobacco cessation. However, to the best of our knowledge, there is no such information about the quality of Web-based learning resources regarding smoking cessation dedicated to oral health professionals. OBJECTIVE: The aim of this study was to identify and evaluate the quality of the content of webpages providing information about smoking cessation for oral health care professionals...
October 20, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29052810/projecting-the-supply-and-demand-for-certified-genetic-counselors-a-workforce-study
#10
Jennifer M Hoskovec, R L Bennett, M E Carey, J E DaVanzo, M Dougherty, S E Hahn, B S LeRoy, S O'Neal, J G Richardson, C A Wicklund
As of May 2017, there were 4242 Certified Genetic Counselors (CGC) (American Board of Genetic Counseling, Inc. 2017) and 41 graduate-level genetic counseling training programs (Accreditation Council for Genetic Counseling 2017) in North America, and the demand for CGCs continues to increase. In the Fall of 2015 the Genetic Counselor Workforce Working Group, comprised of representatives from the American Board of Genetic Counseling (ABGC), the Accreditation Council for Genetic Counseling (ACGC), the Association of Genetic Counseling Program Directors (AGCPD), the American Society of Human Genetics (ASHG), and the National Society of Genetic Counselors (NSGC) commissioned a formal workforce study to project supply of and demand for CGCs through 2026...
October 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29048192/intersectionality-research-in-counseling-psychology
#11
Patrick R Grzanka, Carlos E Santos, Bonnie Moradi
This article introduces the special section on intersectionality research in counseling psychology. Across the 4 manuscripts that constitute this special section, a clear theme emerges: a need to return to the roots and politics of intersectionality. Importantly, the 2 empirical articles in this special section (Jerald, Cole, Ward, & Avery, 2017; Lewis, Williams, Peppers, & Gadson, 2017) are studies of Black women's experiences: a return, so to speak, to the subject positions and social locations from which intersectionality emanates...
October 2017: Journal of Counseling Psychology
https://www.readbyqxmd.com/read/29047076/increased-rates-of-documented-alcohol-counseling-in-primary-care-more-counseling-or-just-more-documentation
#12
Douglas Berger, Gwen T Lapham, Susan M Shortreed, Eric J Hawkins, Anna D Rubinsky, Emily C Williams, Carol E Achtmeyer, Daniel R Kivlahan, Katharine A Bradley
BACKGROUND: Clinical performance measures often require documentation of patient counseling by healthcare providers. Little is known about whether such measures encourage delivery of counseling or merely its documentation. OBJECTIVE: To assess changes in provider documentation of alcohol counseling and patient report of receiving alcohol counseling in the Veterans Administration (VA) from 2009 to 2012. DESIGN: Retrospective time-series analysis...
October 18, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/29040511/development-of-the-testis-in-pre-pubertal-boys-with-cancer-after-biopsy-for-fertility-preservation
#13
M Uijldert, A Meißner, A A de Melker, A M M van Pelt, M D van de Wetering, R R van Rijn, M van Wely, F van der Veen, S Repping
STUDY QUESTION: Is testicular growth affected by a testicular biopsy intended for fertility preservation in pre-pubertal boys with cancer? SUMMARY ANSWER: Testicular growth of the biopsied testis is not impeded in comparison to the non-biopsied contralateral testis up until 1 year after surgery. WHAT IS KNOWN ALREADY: Fertility preservation in pre-pubertal boys by means of testicular biopsy has been conducted for more than 15 years. Although immediate adverse effects of testicular biopsy are rare (1%), no data exist on the effect of biopsy on testicular growth...
October 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29040471/endometriosis-fertility-index-predicts-live-births-following-surgical-resection-of-moderate-and-severe-endometriosis
#14
S Maheux-Lacroix, E Nesbitt-Hawes, R Deans, H Won, A Budden, D Adamson, J A Abbott
STUDY QUESTION: Can live birth be accurately predicted following surgical resection of moderate-severe (Stage III-IV) endometriosis? SUMMARY ANSWER: Live births can accurately be predicted with the endometriosis fertility index (EFI), with adnexal function being the most important factor to predict non-assisted reproductive technology (non-ART) fertility or the requirement for ART (www.endometriosisefi.com). WHAT IS KNOWN ALREADY: Fertility prognosis is important to many women with severe endometriosis...
November 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29034117/correlates-of-cervical-cancer-screening-among-adult-latino-women-a-5-year-follow-up
#15
Patria Rojas, Tan Li, Gira J Ravelo, Christyl Dawson, Mariana Sanchez, Alicia Sneij, Weize Wang, Mariano Kanamori, Elena Cyrus, Mario R De La Rosa
BACKGROUND: Latinas have the highest incidence rates of cervical cancer in the United States, and Latinas in the United States are less likely to utilize cervical cancer screening. METHOD: We used secondary data analysis of a non-clinical convenience sample (n=316 women at baseline; n=285 at five-year follow-up) to examine correlates of cervical cancer screening among adult Latina women. Univariate and multiple logistic regression models using Generalized Estimated Equations (GEE) algorithm were utilized to assess the influence of the independent variables...
June 2017: World Medical & Health Policy
https://www.readbyqxmd.com/read/29033462/acculturative-stress-psychological-distress-and-religious-coping-among-latina-young-adult-immigrants
#16
Nicole Da Silva, Frank R Dillon, Toni Rose Verdejo, Mariana Sanchez, Mario De La Rosa
Religion is a source of strength in Latina/o culture during challenging life transitions, such as the immigration process. Guided by a sociological stress-process model, this study examines relations between dimensions of religious coping, acculturative stress, and psychological distress among 530 young Latina women (ages 18-23 years) who recently immigrated to the United States (i.e., approximately 12 months prior to assessment). Higher levels of acculturative stress were associated with higher levels of psychological distress...
February 2017: Counseling Psychologist
https://www.readbyqxmd.com/read/29019748/doppler-us-in-the-evaluation-of-fetal-growth-and-perinatal-health
#17
Kristen R Uquillas, Brendan H Grubbs, Ashley E Prosper, Ramen H Chmait, Edward G Grant, Daphne K Walker
Fetal growth restriction is commonly defined as an estimated fetal weight (EFW) that is below the 10th percentile for gestational age. It is associated with an increased risk of intrauterine demise, neonatal morbidity, and neonatal death; therefore, antenatal detection and surveillance with the optimization of delivery timing are necessary to improve pregnancy outcomes. If the estimated due date has been verified and the EFW is below the 10th percentile for gestational age, the underlying cause should be investigated, since the clinical management, outcome, and counseling options are largely dependent on the cause of the growth restriction...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28981637/rates-of-virological-suppression-and-drug-resistance-in-adult-hiv-1-positive-patients-attending-primary-healthcare-facilities-in-kwazulu-natal-south-africa
#18
Gillian M Hunt, E Kainne Dokubo, Simbarashe Takuva, Tulio de Oliveira, Johanna Ledwaba, Nomathemba Dube, Pravi Moodley, Jennifer Sabatier, Varough Deyde, Lynn Morris, Elliot Raizes
Background: KwaZulu-Natal (KZN) Province in South Africa has the highest HIV disease burden in the country, with an estimated population prevalence of 24.7%. A pilot sentinel surveillance project was undertaken in KZN to classify the proportion of adult patients failing first-line ART and to describe the patterns of drug resistance mutations (DRMs) in patients with virological failure (VF). Methods: Cross-sectional surveillance of acquired HIV drug resistance was conducted in 15 sentinel ART clinics between August and November 2013...
November 1, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28973083/use-of-exome-sequencing-for-infants-in-intensive-care-units-ascertainment-of-severe-single-gene-disorders-and-effect-on-medical-management
#19
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu, Patricia Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari J Tokita, Teresa Santiago-Sim, Hongzheng Dai, Theodore Chiang, Hadley Smith, Mahshid S Azamian, Laurie Robak, Bret L Bostwick, Christian P Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A Bacino, Neil A Hanchard, Michael F Wangler, Daryl Scott, Chester Brown, Jianhong Hu, John W Belmont, Lindsay C Burrage, Brett H Graham, Vernon Reid Sutton, William J Craigen, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Donna M Muzny, Marcus J Miller, Xia Wang, Magalie S Leduc, Rui Xiao, Pengfei Liu, Chad Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M Eng, Yaping Yang, Seema R Lalani
Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within the first 100 days of life who were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period between December 2011 and January 2017...
October 2, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28965442/the-impact-of-curve-severity-on-obstetric-complications-and-regional-anesthesia-utilization-in-pregnant-patients-with-adolescent-idiopathic-scoliosis-a-preliminary-analysis
#20
Emily W Chan, Stephen R Gannon, Chevis N Shannon, Jeffrey E Martus, Gregory A Mencio, Christopher M Bonfield
OBJECTIVE Adolescent idiopathic scoliosis (AIS), the most common type of scoliosis, often presents immediately prior to a woman's childbearing years; however, research investigating the impact of AIS on women's health, particularly pregnancy delivery outcomes, is sparse, with existing literature reporting mixed findings. Similarly limited are studies examining the change in scoliotic curve during or after pregnancy. Therefore, this study aims to determine 1) the impact of scoliotic curvature on obstetric complications (preterm births, induction of labor, and urgent/emergency caesarean section delivery), 2) regional anesthetic decision making and success during delivery for these patients, and 3) the effect of pregnancy on curve progression...
October 2017: Neurosurgical Focus
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