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https://www.readbyqxmd.com/read/29786897/targeted-next-generation-sequencing-for-the-diagnosis-of-patients-with-rare-congenital-anemias
#1
Noa Shefer Averbuch, Orna Steinberg-Shemer, Orly Dgany, Tanya Krasnov, Sharon Noy-Lotan, Joanne Yacobovich, Amir A Kuperman, Antonis Kattamis, Ayelet Ben Barak, Batia Roth-Jelinek, Evgeni Chubar, Evelyn Shabad, Gustavo Dufort, Martin Ellis, Ofir Wolach, Idit Pazgal, Abed Abu Quider, Hagit Miskin, Hannah Tamary
BACKGROUND: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. OBJECTIVE: We aimed to enhance the diagnosis of patients with congenital anemias by using targeted next-generation sequencing...
May 22, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29786131/ca19-9-on-postoperative-surveillance-in-pancreatic-ductal-adenocarcinoma-predicting-recurrence-and-changing-prognosis-over-time
#2
Caroline J Rieser, Mazen Zenati, Ahmad Hamad, Amr I Al Abbas, Nathan Bahary, Amer H Zureikat, Herbert J Zeh, Melissa E Hogg
BACKGROUND: Serum carbohydrate antigen 19-9 (CA19-9) correlates with response to therapy and overall survival (OS) for patients with pancreatic ductal adenocarcinoma (PDAC). This study aimed to define the chronologic relationship between CA19-9 elevation and radiographic recurrence to develop a model that can predict the risk of recurrence (RFS) and prognosis during interval surveillance for patients with resected PDAC. METHODS: A retrospective review examined patients undergoing surgery for pancreatic adenocarcinoma from January 2010 to May 2016...
May 21, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29786025/resident-perspectives-on-communication-training-that-utilizes-immersive-virtual-reality
#3
Francis J Real, Dominick DeBlasio, Nicholas J Ollberding, David Davis, Bradley Cruse, Daniel Mclinden, Melissa D Klein
Background: Communication skills can be difficult to teach and assess in busy outpatient settings. These skills are important for effective counseling such as in cases of influenza vaccine hesitancy. It is critical to consider novel educational methods to supplement current strategies aimed at teaching relational skills. Methods: An immersive virtual reality (VR) curriculum on addressing influenza vaccine hesitancy was developed using Kern's six-step approach to curriculum design...
September 2017: Education for Health: Change in Training & Practice
https://www.readbyqxmd.com/read/29785864/are-there-unmet-needs-in-contraceptive-counselling-and-choice-findings-of-the-european-tanco-study
#4
G S Merki-Feld, C Caetano, T C Porz, J Bitzer
INTRODUCTION: Effective use of contraception requires women to make an informed choice about methods that match their individual needs and expectations. The European Thinking About Needs in Contraception (TANCO) study is a quantitative, online survey of healthcare provider and women's views on aspects of counselling around contraception and contraceptive use. METHODS: Healthcare providers and women attending their practices for contraceptive counselling were invited to complete online questionnaires...
May 22, 2018: European Journal of Contraception & Reproductive Health Care
https://www.readbyqxmd.com/read/29785796/recent-advances-in-understanding-inheritance-of-holoprosencephaly
#5
Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé
Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an autosomal dominant disease, but recent research has shown that its mode of transmission is more complex. The past decade has witnessed rapid development of novel genetic technologies and significant progresses in clinical studies of HPE. In this review, we recapitulate genetic epidemiological studies of the largest European HPE cohort and summarize the novel genetic discoveries of HPE based on recently developed diagnostic methods...
May 22, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29785770/chemoprevention-acceptance-and-adherence-in-women-with-high-risk-breast-lesions
#6
Constance A Roche, Rong Tang, Suzanne B Coopey, Kevin S Hughes
Patients with atypical hyperplasia and lobular carcinoma in situ (LCIS) (atypical breast lesions) are at high risk of developing breast cancer, and chemoprevention has been shown to confer a substantial reduction in that risk. Despite this, the overall rate of chemoprevention utilization in this group is low. This study evaluates the efficacy of a formal individualized education and counseling session on patient acceptance and adherence to chemoprevention. Patients with atypical breast lesions having an individualized education and counseling session in a single surgical oncology practice were prospectively entered into a database from 2001 to 2016, and with IRB approval, their data were analyzed...
May 21, 2018: Breast Journal
https://www.readbyqxmd.com/read/29785559/childbirth-after-adolescent-and-young-adult-cancer-a-population-based-study
#7
Hazel B Nichols, Chelsea Anderson, Kathryn J Ruddy, Kristin Z Black, Barbara Luke, Stephanie M Engel, Jennifer E Mersereau
PURPOSE: Annually, > 45,000 US women are diagnosed with cancer during adolescence and young adulthood (AYA). Since 2006, national guidelines have recommended fertility counseling for cancer patients. We examined childbirth after AYA cancer by calendar period, cancer diagnosis, and maternal characteristics. METHODS: We identified a cohort of women with an incident invasive AYA cancer diagnosis at ages 15-39 during 2000-2013 in North Carolina. Cancer records were linked with statewide birth certificates through 2014...
May 22, 2018: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/29785135/mutation-analysis-of-brca1-2-mutations-with-special-reference-to-polymorphic-snps-in-indian-breast-cancer-patients
#8
Nidhi D Shah, Parth S Shah, Yash Y Panchal, Kalpesh H Katudia, Nikunj B Khatri, Hari Shankar P Ray, Upti R Bhatiya, Sandip C Shah, Bhavini S Shah, Mandava V Rao
Background: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown. Purpose: In this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types. Materials and methods: The purified extracted DNA of each referral patient was subjected to Sanger gene sequencing using Codon Code Analyzer and Mutation Surveyor and next-generation sequencing (NGS) methods with Ion torrent software, after appropriate care...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29784902/physician-practice-patterns-and-barriers-to-counselling-on-physical-activity-in-solid-organ-transplant-recipients
#9
Amy Pang, Sarangan Lingham, Weina Zhao, Stephanie Leduc, Agnès Räkel, Ruth Sapir-Pichhadze, Sunita Mathur, Tania Janaudis-Ferreira
BACKGROUND Many solid organ transplant (SOT) recipients fail to meet the recommended physical activity (PA) levels. "Physician recommendation" has previously been reported by SOT recipients as a key facilitator to being more physically active. The purpose of this study was to determine the proportion of Canadian SOT physicians providing PA counselling and identify barriers to including such counselling as part of the SOT recipients' routine care. MATERIAL AND METHODS We conducted a cross-sectional web-based survey study to evaluate physicians' PA counselling practices, including the prevalence and barriers to such practice...
May 22, 2018: Annals of Transplantation: Quarterly of the Polish Transplantation Society
https://www.readbyqxmd.com/read/29784635/acceptability-of-an-mhealth-app-intervention-for-persons-with-type-2-diabetes-and-its-associations-with-initial-self-management-randomized-controlled-trial
#10
Astrid Torbjørnsen, Milada Cvancarova Småstuen, Anne Karen Jenum, Eirik Årsand, Lis Ribu
BACKGROUND: Mobile health interventions are increasingly used in health care. The level of acceptability may indicate whether and how such digital solutions will be used. OBJECTIVE: This study aimed to explore associations between the level of acceptability of a mobile diabetes app and initial ability of self-management for patients with type 2 diabetes. METHODS: Participants with type 2 diabetes were recruited from primary health care settings to a 3-armed randomized controlled trial in the Norwegian study in the RENEWING HEALTH project...
May 21, 2018: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/29784605/code-seq-an-augmented-whole-exome-sequencing-enables-the-accurate-detection-of-cnvs-and-mutations-in-mendelian-obesity-and-intellectual-disability
#11
Louise Montagne, Mehdi Derhourhi, Amélie Piton, Bénédicte Toussaint, Emmanuelle Durand, Emmanuel Vaillant, Dorothée Thuillier, Stefan Gaget, Franck De Graeve, Iandry Rabearivelo, Amélie Lansiaux, Bruno Lenne, Sylvie Sukno, Rachel Desailloud, Miriam Cnop, Ramona Nicolescu, Lior Cohen, Jean-François Zagury, Mélanie Amouyal, Jacques Weill, Jean Muller, Olivier Sand, Bruno Delobel, Philippe Froguel, Amélie Bonnefond
OBJECTIVE: The molecular diagnosis of extreme forms of obesity, in which accurate detection of both copy number variations (CNVs) and point mutations, is crucial for an optimal care of the patients and genetic counseling for their families. Whole-exome sequencing (WES) has benefited considerably this molecular diagnosis, but its poor ability to detect CNVs remains a major limitation. We aimed to develop a method (CoDE-seq) enabling the accurate detection of both CNVs and point mutations in one step...
May 16, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29784522/expanding-couples-based-hiv-testing-and-counseling-in-the-united-states-findings-from-a-nationwide-online-survey-of-partnered-adults
#12
Ji-Young Lee, Jason W Mitchell
Couples-based HIV testing and counseling (CHTC) is currently available only for gay male couples in the United States, but other types of couples could benefit from this service. Our cross-sectional, online study collected data from 536 partnered adults to assess interest in using CHTC and associated factors. Adjusted odds ratios were calculated with ordinal logistic regression to analyze factors associated with greater interest in using CHTC. Most participants were female, White, non-Hispanic, and/or students who were dating exclusively and sexually active...
April 23, 2018: Journal of the Association of Nurses in AIDS Care: JANAC
https://www.readbyqxmd.com/read/29783983/economic-evaluation-of-a-dietary-intervention-for-adults-with-major-depression-the-smiles-trial
#13
Mary Lou Chatterton, Cathrine Mihalopoulos, Adrienne O'Neil, Catherine Itsiopoulos, Rachelle Opie, David Castle, Sarah Dash, Laima Brazionis, Michael Berk, Felice Jacka
BACKGROUND: Recently, the efficacy of dietary improvement as a therapeutic intervention for moderate to severe depression was evaluated in a randomised controlled trial. The SMILES trial demonstrated a significant improvement in Montgomery-Åsberg Depression Rating Scale scores favouring the dietary support group compared with a control group over 12 weeks. We used data collected within the trial to evaluate the cost-effectiveness of this novel intervention. METHODS: In this prospective economic evaluation, sixty-seven adults meeting DSM-IV criteria for a major depressive episode and reporting poor dietary quality were randomised to either seven sessions with a dietitian for dietary support or to an intensity matched social support (befriending) control condition...
May 22, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29783979/lynch-syndrome-associated-endometrial-carcinoma-with-mlh1-germline-mutation-and-mlh1-promoter-hypermethylation-a-case-report-and-literature-review
#14
Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai, Kokichi Sugano
BACKGROUND: Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer...
May 21, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29783971/posterior-urethral-valves-10-years-audit-of-epidemiologic-diagnostic-and-therapeutic-aspects-in-yaound%C3%A3-gynaeco-obstetric-and-paediatric-hospital
#15
Faustin Felicien Mouafo Tambo, Paul Nkemtendong Tolefac, Marcelin Ngowe Ngowe, Jacqueline Ze Minkande, Landry Mbouche, Georgette Guemkam, Neville Alemnju Telelen, Fru Fobuzshi Angwafo, Aurelien Maurice Sosso
BACKGROUND: The incidence of posterior urethral valve (PUV) is estimated at 1:5000-1:8000 males. It is the most common paediatric urologic urgency and the most common cause of male obstructive uropathy and chronic renal failure in children. The study aimed to describe the experience of Yaoundé gynaeco-obstetrics and paediatric hospital in the management of PUV. METHODS: Retrospectively, medical records were retrieved over a ten year period and all data recorded and analyzed for study objectives...
May 21, 2018: BMC Urology
https://www.readbyqxmd.com/read/29783961/diabetes-management-training-for-female-community-health-volunteers-in-western-nepal-an-implementation-experience
#16
Bishal Gyawali, Shiva Raj Mishra, Dinesh Neupane, Abhinav Vaidya, Annelli Sandbæk, Per Kallestrup
BACKGROUND: In the backdroup of a rapidly increasing burden of diabetes in Nepal, a community-based diabetes management program is implemented involving female community health volunteers (FCHVs) under the government run FCHVs program. FCHVs received an intensive one-week training workshop on prevention, control and management of diabetes. The training program was implemented and evaluated to enhance diabetes knowledge of FCHVs and matched according to their literacy level. METHODS: A range of teaching methods were applied, including desk review, active participation, lectures, presentations, discussions, role plays, demonstration and field test...
May 21, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29783912/utilizing-clinical-pharmacist-specialist-to-manage-hepatitis-c-virus-patients-on-direct-acting-antiviral-therapy
#17
Lena A Mikolas, Kimberly Jacques, Mostaqul Huq, Charles Krasner, Scott E Mambourg
OBJECTIVES: To evaluate outcomes of a clinical pharmacist specialist (CPS)-managed hepatitis C virus (HCV) treatment clinic (HCVTC) in treating HCV-infected veterans with direct-acting antivirals (DAAs). METHODS: We established a CPS-managed HCVTC under a collaborative practice agreement with our infectious disease physician (IDP). A total of 132 veterans were treated between November 1, 2014, and November 30, 2015. The CPS engaged in pretreatment screening, drug selection, patient education, medication counseling, drug therapy monitoring, drug utilization review, addressing issues on drug adherence, and routine and posttreatment follow-up of patients to assess sustained virologic response (SVR) after 12 weeks of treatment...
January 1, 2018: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/29783876/corrigendum
#18
(no author information available yet)
Gelo, F. (2018). TED Talks: Learning Through Podcasts. Journal of Pastoral Care & Counselling, 72, 76-76. In the first line of the above-mentioned article, there is a reference to the article Gelo, F. (2018) On Being: Podcasts to Explore, Journal of Pastoral Care & Counselling 72, 75-75, as being in a previous issue of the Journal of Pastoral Care & Counselling. This is incorrect, and the article "On Being: Podcasts to Explore", appeared in the same issue of the Journal of Pastoral Care & Counselling...
January 1, 2018: Journal of Pastoral Care & Counseling: JPCC
https://www.readbyqxmd.com/read/29783205/individual-approach-to-the-treatment-of-obese-copd-patients-can-reduce-anthropometric-indicators-the-level-of-systemic-inflammation-and-improve-the-quality-of-life
#19
Lesia V Savchenko, Igor P Kaidashev
OBJECTIVE: Introduction: Chronic obstructive pulmonary disease (COPD) and obesity are major causes of morbidity and mortality worldwide, and according to current estimates, the global burden of these conditions will be even greater. The basis for COPD treatment is bronchodilator therapy and non-pharmacotherapy approaches, such as respiratory rehabilitation and dietary counseling. The aim of this study was to assess the impact of lifestyle modification on anthropometric indices, markers of systemic inflammation, quality of life in patients with COPD and obesity...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29782443/association-between-vestibular-vertigo-and-motor-vehicle-accidents-data-from-the-2016-national-health-interview-survey
#20
Eric X Wei, Yuri Agrawal
Recent evidence has shown that individuals with vestibular impairment have higher rates of self-reported driving difficulty compared with individuals without vestibular impairment. However, it is unknown whether individuals with vestibular impairment are more likely to be involved in motor vehicle accidents. We used data from the 2016 National Health Interview Survey of U.S. adults to evaluate whether individuals with vestibular vertigo are more likely to experience motor vehicle accidents relative to individuals without vestibular vertigo...
May 18, 2018: Ear and Hearing
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