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https://www.readbyqxmd.com/read/28346690/the-benefits-and-limitations-of-cell-free-dna-screening-for-47-xxy-klinefelter-syndrome
#1
Carole Samango-Sprouse, Colleen Keen, Teresa Sadeghin, Andrea Gropman
OBJECTIVE: The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY, and investigate potential risks and benefits of prenatal identification. METHOD: A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques. RESULTS: As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28346497/determinants-of-infant-nutritional-status-in-dabat-district-north-gondar-ethiopia-a-case-control-study
#2
Amarech Asratie Wubante
BACKGROUND: Malnutrition is the top cause of global burden of disease, disability and mortality among infants. Over two-thirds of deaths of children globally occur during the first year of life (infancy). Malnutrition among infants is substantially high in Ethiopia. Therefore, this study is aimed to assess determinants of infant nutritional status. METHODS: A community based nested case-control study was conducted from February to June 2013 in Dabat district. A total of 80 cases and 320 controls (1:4 ratios) were studied...
2017: PloS One
https://www.readbyqxmd.com/read/28346205/consultation-for-human-veterinary-and-compounded-medications
#3
Gabriella Moghadam, Lauren Eichstadt Forsythe
Providing consultation on medications is a daily responsibility for pharmacists. However, counseling components for veterinary or compounded medications can differ from those for manufactured medications for humans. This article lists the content that should be provided during consultation, describes differences between counseling for human and veterinary patients, and provides references that can be used. Because many veterinary medications are compounded, this article also provides information that should accompany compounded preparations...
March 2017: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28345240/prenatal-dna-sequencing-clinical-counseling-and-diagnostic-laboratory-considerations
#4
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi
Clinical diagnostic laboratories are producing next generation sequencing (NGS)-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history and the physical examination is only indirectly available via prenatal sonography...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28345121/outcomes-of-a-randomized-controlled-trial-of-genomic-counseling-for-patients-receiving-personalized-and-actionable-complex-disease-reports
#5
Kevin Sweet, Amy C Sturm, Tara Schmidlen, Joseph McElroy, Laura Scheinfeldt, Kandamurugu Manickam, Erynn S Gordon, Shelly Hovick, J Scott Roberts, Amanda Ewart Toland, Michael Christman
There has been very limited study of patients with chronic disease receiving potentially actionable genomic based results or the utilization of genetic counselors in the online result delivery process. We conducted a randomized controlled trial on 199 patients with chronic disease each receiving eight personalized and actionable complex disease reports online. Primary study aims were to assess the impact of in-person genomic counseling on 1) causal attribution of disease risk, 2) personal awareness of disease risk, and 3) perceived risk of developing a particular disease...
March 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28345115/counseling-practices-for-fetal-hypoplastic-left-heart-syndrome
#6
Michael J Walsh, George R Verghese, M Eric Ferguson, Nora F Fino, David J Goldberg, Sonal T Owens, Nelangi Pinto, Sinai C Zyblewski, Michael D Quartermain
While counseling parents of a fetus diagnosed with hypoplastic left heart syndrome (HLHS), pediatric cardiologists play a critical role in shaping a family's expectations for the months and years to come. However, techniques for the most effective counseling practices have not been studied, and significant variation among physicians is likely present. Web-based survey of pediatric cardiologists that perform fetal echocardiography using snowball sampling. 201 physicians responded (61% male, 81% from academic centers, and 95% from the U...
March 27, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28344955/association-of-citalopram-with-congenital-anomalies-a-meta-analysis
#7
Hyun-Hye Kang, Ki Hoon Ahn, Soon-Cheol Hong, Bo Yong Kwon, Eun Hee Lee, Ji-Sung Lee, Min-Jeong Oh, Hai-Joong Kim
OBJECTIVE: The antenatal use of citalopram, a widely prescribed selective serotonin reuptake inhibitor, has been suspected to be associated with congenital, particularly cardiac, anomalies. This study aimed to prove the association between citalopram use and congenital anomalies. METHODS: We searched the English literature from July 1998 to July 2015, by using the search terms ' citalopram', ' pregnancy', ' birth defects', ' congenital anomalies', and ' malformations' in PubMed, Embase, Web of Science, and the Cochrane Library...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28344120/a-systematic-review-of-lifestyle-counseling-for-diverse-patients-in-primary-care
#8
REVIEW
Cathy L Melvin, Melanie S Jefferson, LaShanta J Rice, Lynne S Nemeth, Andrea M Wessell, Paul J Nietert, Chanita Hughes-Halbert
Prior research and systematic reviews have examined strategies related to weight management, less is known about lifestyle and behavioral counseling interventions optimally suited for implementation in primary care practices generally, and among racial and ethnic patient populations. Primary care practitioners may find it difficult to access and use available research findings on effective behavioral and lifestyle counseling strategies and to assess their effects health behaviors among their patients. This systematic review compiled existing evidence from randomized trials to inform primary care providers about which lifestyle and behavioral change interventions are shown to be effective for changing patients' diet, physical activity and weight outcomes...
March 23, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/28343713/workplace-violence-against-women-nurses-working-in-two-public-sector-hospitals-of-lahore-pakistan
#9
Sara Rizvi Jafree
BACKGROUND: Cultural and structural forces help sustain workplace violence (WPV) against feminized professions like nursing in Pakistan. PURPOSE: The purpose of this study was to identify the prevalence and patterns of workplace violence (WPV) against women nurses (more than 95% of entire nursing population) in two hospitals of Pakistan. METHODS: A standardized international survey developed by the World Health Organization was used to collect cross-sectional data...
January 19, 2017: Nursing Outlook
https://www.readbyqxmd.com/read/28342949/use-of-thiopurines-during-conception-and-pregnancy-not-associated-with-adverse-pregancy-outcomes-or-health-of-infants-at-1-year-in-a-prospective-study
#10
Shannon L Kanis, Alison de Lima-Karagiannis, Nanne K H de Boer, C Janneke van der Woude
BACKGROUND & AIMS: Most data on the safety of thiopurine therapy for inflammatory bowel disease (IBD) during pregnancy come from retrospective studies, making it difficult to adjust for confounding factors. We performed a prospective cohort study to determine whether thiopurine use affects pregnancy outcomes or health outcomes of children. METHODS: We performed a prospective study of all women who visited the IBD preconception outpatient clinic at our tertiary health center in The Netherlands from December 2008 through May 2016...
March 22, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28342775/the-cash-and-counseling-model-of-self-directed-long-term-care-effectiveness-with-young-adults-with-disabilities
#11
Melissa L Harry, Kevin J Mahoney, Ellen K Mahoney, Ce Shen
BACKGROUND: Young adults with disabilities face numerous barriers to independence and achieving markers of adulthood. Qualitative evidence suggests that flexible, self-directed budgets for purchasing home and community-based services might help fill an identified service gap and help improve the transition to adulthood for this group. OBJECTIVE: Our aim was to evaluate the effectiveness of the Cash and Counseling model of self-directed budgets for young adults with long-term care disabilities by analyzing secondary data from the Cash and Counseling Demonstration and Evaluation randomized control trial...
March 10, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/28342711/epidemiological-profile-and-vaccination-coverage-in-splenectomy-patients-in-a-health-area-of-murcia-1993-2012
#12
Yolanda Molina-Salas, Francisco José Romera-Guirado, Jaime Jesús Pérez-Martín, María Nieves Peregrín-González, David Góngora-Soria
OBJECTIVE: Splenectomy patients have a high risk of suffering severe infections, many of them preventable by vaccination. The aim of the study was to analyse the clinical epidemiological characteristics and vaccine coverage of these patients in Health Area III of the Region of Murcia. METHOD: A cross-sectional study was conducted on a population of patients that were splenectomised during the period 1993-2012, according to the Register of the Basic Minimum Data Set...
March 22, 2017: Enfermería Clínica
https://www.readbyqxmd.com/read/28342704/trends-in-the-presentation-surgical-treatment-and-outcomes-of-tethered-cord-syndrome-a-nationwide-study-from-2001-to-2010
#13
Cyrus M Jalai, Charles Wang, Bryan J Marascalchi, Samantha R Horn, Gregory W Poorman, Olivia J Bono, Anthony K Frempong-Boadu, Peter G Passias
OBJECTIVE: This is a nationwide query into surgical management techniques for tethered cord syndrome, focusing on patient demographic, hospital characteristics, and treatment outcomes. Our hypothesis is that detethering vs. fusion for TCS results in different in-hospital complications. MATERIALS AND METHODS: Retrospective review of the Nationwide Inpatient Sample 2001-2010. Inclusion: TCS discharges undergoing detethering or fusion. Sub-analysis compared TCS cases by age (pediatric [≤9years] vs...
March 22, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28342182/at-first-sight-or-second-glance-clinical-presentation-of-mosaic-manifestations-of-autosomal-dominant-skin-disorders-a-case-series
#14
Ferdinand Toberer, Rudolf Happle, Roland Schneiderbauer, Ingrid Hausser, Verena Kröhl, Andreas Epple, Ute Moog, Alexander H Enk, Anke S Lonsdorf
BACKGROUND: Several autosomal dominant disorders may manifest in mosaic patterns with cutaneous involvement. Genomic mosaicism results from postzygotic autosomal mutations, giving rise to clonal proliferation of two genetically distinct cell groups, which clinically present as lesions following the lines of Blaschko. OBJECTIVE: To increase the awareness of the clinical variability of mosaic manifestations in autosomal dominant skin disorders in order to avoid delayed diagnosis...
March 25, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28341787/potential-new-treatment-for-non-freezing-cold-injury-is-iloprost-the-way-forward
#15
Anne-Marie Ionescu, Sarah Hutchinson, Mehtab Ahmad, Christopher Imray
INTRODUCTION: Non-freezing cold injury (NFCI) remains largely under-reported, and is of particular importance in the armed forces where its prevalence is greatest. Iloprost, a synthetic prostaglandin I2 analogue, has previously been used with some success in the treatment of vasospastic and freezing cold injuries, although its role in NFCI remains unclear. CASE REPORT: An Iloprost infusion was used to treat the long-term sequelae of an ex-soldier suffering with ongoing pedal pain and loss of function 20 years after the initial NFCI insult sustained on military exercise...
March 23, 2017: Journal of the Royal Army Medical Corps
https://www.readbyqxmd.com/read/28341417/poor-knowledge-of-age-related-fertility-decline-and-assisted-reproduction-among-healthcare-professionals
#16
Désirée García, Rita Vassena, Andrés Prat, Valérie Vernaeve
Reproduction is a matter of concern for individuals and society due to the postponement of childbearing, and healthcare professionals are the main source of information and counselling. This study aims to evaluate how knowledgeable healthcare professionals are about fertility and assisted reproduction, and to explore attitudes towards social oocyte freezing. A cross-sectional study was performed with 201 professionals (gynaecologists, physicians and nurses) from four public centres in Spain. Participants completed a survey about fertility, IVF, oocyte donation (OD) and social oocyte freezing, between May 2013 and March 2014...
January 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28341066/recommendations-for-cerebrospinal-fluid-alzheimer-s-disease-biomarkers-in-the-diagnostic-evaluation-of-mild-cognitive-impairment
#17
Sanna-Kaisa Herukka, Anja Hviid Simonsen, Niels Andreasen, Ines Baldeiras, Maria Bjerke, Kaj Blennow, Sebastiaan Engelborghs, Giovanni B Frisoni, Tomasz Gabryelewicz, Samantha Galluzzi, Ron Handels, Milica G Kramberger, Agnieszka Kulczyńska, Jose Luis Molinuevo, Barbara Mroczko, Agneta Nordberg, Catarina Resende Oliveira, Markus Otto, Juha O Rinne, Uroš Rot, Esen Saka, Hilkka Soininen, Hanne Struyfs, Silvia Suardi, Pieter Jelle Visser, Bengt Winblad, Henrik Zetterberg, Gunhild Waldemar
This article presents recommendations, based on the Grading of Recommendations, Assessment, Development, and Evaluation method, for the clinical application of cerebrospinal fluid (CSF) amyloid-β1-42, tau, and phosphorylated tau in the diagnostic evaluation of patients with mild cognitive impairment (MCI). The recommendations were developed by a multidisciplinary working group and based on the available evidence and consensus from focused group discussions for 1) prediction of clinical progression to Alzheimer's disease (AD) dementia, 2) cost-effectiveness, 3) interpretation of results, and 4) patient counseling...
March 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28340978/adult-congenital-heart-disease-nurse-coordination-essential-skills-and-role-in-optimizing-team-based-care-a-position-statement-from-the-international-society-for-adult-congenital-heart-disease-isachd
#18
Christina Sillman, Joanne Morin, Corina Thomet, Deena Barber, Yoshiko Mizuno, Hsiao-Ling Yang, Theresa Malpas, Serena Francesca Flocco, Clare Finlay, Chi-Wen Chen, Yvonne Balon, Susan M Fernandes
BACKGROUND: Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with congenital heart disease (CHD) worldwide. Among ISACHD's objectives is to "promote a holistic team-based approach to the care of the adult with CHD that is comprehensive, patient-centered, and interdisciplinary" (http://www.isachd.org). This emphasis on team-based care reflects the fact that adults with CHD constitute a heterogeneous population with a wide spectrum of disease complexity, frequent association with other organ involvement, and varied co-morbidities and psychosocial issues...
February 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28339649/lgbtq-youth-and-young-adult-perspectives-on-a-culturally-tailored-group-smoking-cessation-program
#19
Neill Bruce Baskerville, Alanna Shuh, Katy Wong-Francq, Darly Dash, Aneta Abramowicz
Introduction: The prevalence of smoking among LGBTQ youth and young adults (YYAs) is much higher than that of non-LGBTQ young people. The current study explored LGBTQ YYA perceptions of a culturally tailored group smoking cessation counselling program, along with how the intervention could be improved. Methods: We conducted focus groups (n = 24) with 204 LGBTQ YYAs in Toronto and Ottawa, Canada. Open-ended questions focused on their feelings, likes and dislikes, concerns and additional ideas for a culturally tailored group cessation counselling intervention...
January 25, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/28339061/identification-of-two-novel-mutations-in-the-slco2a1-prostaglandin-transporter-gene-in-a-chinese-patient-with-primary-hypertrophic-osteoarthropathy
#20
Ting Guo, Kai Yang, Lv Liu, Zhi-Ping Tan, Hong Luo
Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrier organic anion transporter family, member 2A1 (SLCO2A1). However, the pathogenesis and the functions of the underlying genes remain to be fully elucidated...
March 24, 2017: Molecular Medicine Reports
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