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https://www.readbyqxmd.com/read/28454199/-genetic-diagnostics-for-cardiomyopathies
#1
Frauke Czepluch, Bernd Wollnik, Gerd Hasenfuß
Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will continuously increase our knowledge about the genetic basis of cardiomyopathies within the following years. Diagnostics and therapy of rare, genetically-induced cardiac diseases increasingly require special cardiac and genetic knowledge. Interestingly, mutations in the same gene or even identical gene mutations can be associated with different cardiomyopathy phenotypes and can exhibit incomplete penetrance or variable expressivity...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28453870/clinically-relevant-discordances-identified-after-tertiary-reassessment-of-fetuses-with-isolated-congenital-diaphragmatic-hernia
#2
Elisa Done, Leonardo Gucciardo, Tim Van Mieghem, Koen Devriendt, Karel Allegaert, Paul Brady, Roland Devlieger, Luc De Catte, Liesbeth Lewi, Jan Deprest
OBJECTIVE: Fetoscopic Endoluminal Tracheal Occlusion (FETO) may improve outcome of severe isolated Congenital Diaphragmatic Hernia (iCDH). We aimed to identify any discrepancy between initial assessment at the referring hospital and the evaluation at the fetal surgery center, and to document parental decisions following counseling for fetal surgery. DESIGN: Single centre retrospective study on patients with presumed iCDH either referred for assessment and counseling or referred for fetal surgery...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453749/an-independently-validated-nomogram-for-individualized-estimation-of-survival-among-patients-with-newly-diagnosed-glioblastoma-nrg-oncology-rtog-0525-and-0825
#3
Haley Gittleman, Daniel Lim, Michael W Kattan, Arnab Chakravarti, Mark R Gilbert, Andrew B Lassman, Simon S Lo, Mitchell Machtay, Andrew E Sloan, Erik P Sulman, Devin Tian, Michael A Vogelbaum, Tony J C Wang, Marta Penas-Prado, Emad Youssef, Deborah T Blumenthal, Peixin Zhang, Minesh P Mehta, Jill S Barnholtz-Sloan
Background.: Glioblastoma (GBM) is the most common primary malignant brain tumor. Nomograms are often used for individualized estimation of prognosis. This study aimed to build and independently validate a nomogram to estimate individualized survival probabilities for patients with newly diagnosed GBM, using data from 2 independent NRG Oncology Radiation Therapy Oncology Group (RTOG) clinical trials. Methods.: This analysis included information on 799 (RTOG 0525) and 555 (RTOG 0825) eligible and randomized patients with newly diagnosed GBM and contained the following variables: age at diagnosis, race, gender, Karnofsky performance status (KPS), extent of resection, O6-methylguanine-DNA methyltransferase (MGMT) methylation status, and survival (in months)...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28453651/a-panoromic-view-of-personal-cancer-genomes
#4
Lidia Mateo, Oriol Guitart-Pla, Carles Pons, Miquel Duran-Frigola, Roberto Mosca, Patrick Aloy
The massive molecular profiling of thousands of cancer patients has led to the identification of many tumor type specific driver genes. However, only a few (or none) of them are present in each individual tumor and, to enable precision oncology, we need to interpret the alterations found in a single patient. Cancer PanorOmics (http://panoromics.irbbarcelona.org) is a web-based resource to contextualize genomic variations detected in a personal cancer genome within the body of clinical and scientific evidence available for 26 tumor types, offering complementary cohort- and patient-centric views...
April 27, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28453507/genetic-cancer-risk-assessment-for-breast-cancer-in-latin-america
#5
Yanin Chavarri-Guerra, Kathleen Reilly Blazer, Jeffrey Nelson Weitzel
In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped across Latin America, and access to genetic testing and counseling is very scarce in the region. Barriers contributing to the access to genetic care are high cost and lack of insurance coverage for genetic tests, insufficient oncogenetics training or expertise, nonexistence of genetic counseling as a clinical discipline, and lack of supportive healthcare policies...
March 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28453358/bereavement-service-preferences-of-surviving-family-members-variation-among-next-of-kin-with-depression-and-complicated-grief
#6
Alissa Banyasz, Rachel Weiskittle, Amanda Lorenz, Lauren Goodman, Sharla Wells-Di Gregorio
BACKGROUND: Research indicates that bereavement services reduce distress and support adjustment in the bereaved, particularly those experiencing significant levels of depression or grief. However, the service use of bereaved individuals and whether utilization differs among those experiencing depression and complicated grief currently remain unclear. Research is needed to clarify the preferences of the bereaved, including specific bereaved subgroups. OBJECTIVES: The purpose of this study was to explore the bereavement service preferences of bereaved family members whose loved one died in the hospital and identify group differences in service use among individuals with and without depression and complicated grief, considering time since the death of the patient...
April 28, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28449385/linkage-to-hiv-care-after-home-based-hiv-counselling-and-testing-in-sub-saharan-africa-a-systematic-review
#7
REVIEW
Eugene Ruzagira, Kathy Baisley, Anatoli Kamali, Samuel Biraro, Heiner Grosskurth
BACKGROUND: Home-based HIV counselling and testing (HBHCT) has the potential to increase HIV testing uptake in sub-Saharan Africa (SSA) but data on linkage to HIV care after HBHCT are scarce. We conducted a systematic review of linkage to care after HBHCT in SSA. METHODS: Five databases were searched for studies published between 1(st) January 2000 and 19(th) August 2016 that reported on linkage to care among adults newly identified with HIV infection through HBHCT...
April 27, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28449198/systematic-review-of-sex-work-interventions-in-sub-saharan-africa-examining-combination-prevention-approaches
#8
George Awungafac, Therese Delvaux, Bea Vuylsteke
OBJECTIVE: The incidence of HIV and sexually transmitted infections is disproportionately high among sex workers (SW). We aimed to update the evidence on the effectiveness of SW interventions in sub-Saharan Africa and to provide more insights into combination prevention. METHODS: Systematic review following PRISMA guidelines in a search of PUBMED and POPLINE for peer-reviewed literature published between January 1, 2000 and July 22, 2016 (registration number on PROSPERO: CRD42016042529)...
April 27, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28449197/safety-profile-of-medication-used-during-pregnancy-results-of-a-multinational-european-study
#9
Johanne N Trønnes, Angela Lupattelli, Hedvig Nordeng
PURPOSE: The present study describes the safety profile of medications used during pregnancy across European countries and examines maternal factors associated with the use of risky medications during pregnancy. METHODS: This study is based on a multinational, web-based study conducted in 15 European countries from October 2011 to February 2012. Information about maternal demographics, illnesses, and medication use during pregnancy was collected via an electronic questionnaire...
April 27, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28449105/family-communication-styles-and-resilience-among-adolescents
#10
M Alejandra Acuña, Sheryl Kataoka
Some adolescents manage to be resilient, whereas others develop posttraumatic stress disorder (PTSD) symptoms after experiencing trauma, but the mechanisms underlying these differences are unclear. Public secondary school students (N = 98) referred for counseling completed questionnaires assessing exposure to stressful events, family communication, and PTSD. Seventy percent of the sample reported PTSD symptoms in the clinical range. Open family communication was negatively associated with female gender, problem family communication (PFC), and PTSD symptom severity...
April 26, 2017: Social Work
https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#11
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28448645/estimating-survival-after-salvage-surgery-for-recurrent-oral-cavity-cancer
#12
Samantha Tam, Rakhna Araslanova, Tsu-Hui Hubert Low, Andrew Warner, John Yoo, Kevin Fung, S Danielle MacNeil, David A Palma, Anthony C Nichols
Importance: Locoregional recurrence of oral cavity squamous cell carcinoma (OCSCC) continues to be a life-threatening and difficult clinical situation. Salvage surgery can result in significant morbidities, and survival following recurrence is poor. Objective: To outline prognostic factors influencing overall survival (OS) following salvage surgery for OCSCC to guide management of treatment for patients with locoregionally recurrent disease. Design, Setting, and Participants: The medical records of 293 patients presenting to the London Health Sciences Center with locoregionally recurrent OCSCC between October 5, 1999, and May 2, 2011, were retrospectively reviewed...
April 27, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28448502/contraceptive-uptake-after-training-community-health-workers-in-couples-counseling-a-cluster-randomized-trial
#13
Clara Lemani, Jennifer H Tang, Dawn Kopp, Billy Phiri, Chrissy Kumvula, Loyce Chikosi, Mwawi Mwale, Nora E Rosenberg
BACKGROUND: Young women in Malawi face many challenges in accessing family planning (FP), including distance to the health facility and partner disapproval. Our primary objective was to assess if training HSAs in couples counseling would increase modern FP uptake among young women. METHODS: In this cluster randomized controlled trial, 30 HSAs from Lilongwe, Malawi received training in FP. The HSAs were then randomized 1:1 to receive or not receive additional training in couples counseling...
2017: PloS One
https://www.readbyqxmd.com/read/28448483/trends-in-repeat-births-and-use-of-postpartum-contraception-among-teens-united-states-2004-2015
#14
Deborah L Dee, Karen Pazol, Shanna Cox, Ruben A Smith, Katherine Bower, Martha Kapaya, Amy Fasula, Ayanna Harrison, Charlan D Kroelinger, Denise D'Angelo, Leslie Harrison, Emilia H Koumans, Nikki Mayes, Wanda D Barfield, Lee Warner
Teen* childbearing (one or more live births before age 20 years) can have negative health, social, and economic consequences for mothers and their children (1). Repeat teen births (two or more live births before age 20 years) can constrain the mother's ability to take advantage of educational and workforce opportunities (2), and are more likely to be preterm or of low birthweight than first teen births (3). Despite the historic decline in the U.S. teen birth rate during 1991-2015, from 61.8 to 22.3 births per 1,000 females aged 15-19 years (4), many teens continue to have repeat births (3)...
April 28, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28448378/a-mixed-method-review-of-tobacco-cessation-for-the-cardiopulmonary-rehabilitation-clinician
#15
Ana Mola, Madeleine M Lloyd, Miguel A Villegas-Pantoja
PURPOSE: To systematically survey the literature, describe the current tobacco science, and perform a mixed method review of randomized control trials of tobacco research in the cardiopulmonary population. METHODS: Mixed method review was conducted on major resource databases. Inclusion criteria were English language with a minimum follow-up of 6 months, published between January 1, 2007, and June 30, 2016; adult smokers ≥18 years of age with cardiovascular and/or pulmonary disease; initiation of subject recruitment from hospital or community; tobacco cessation (TC) as the main aim of the study; biometric validation of smoking status; first-line TC medications; and nonpharmacological treatments...
May 2017: Journal of Cardiopulmonary Rehabilitation and Prevention
https://www.readbyqxmd.com/read/28448327/community-osteoporosis-screening-services-for-the-prevention-of-osteoporotic-fractures-in-population-health-a-literature-review
#16
Vu H Nguyen
AIM: To determine the implications of the reviewed literature in population health improvement. METHOD: A review of the literature was conducted with the search of four databases: PubMed, PsycINFO, ERIC, and Google Scholar. Search terms entered into these databases were 'osteoporosis community'. After a thorough review of all search results, 11 studies were found to be community osteoporosis screening services, and descriptions of each study's participants and location, details and descriptions of each study's community osteoporosis screening service, and effectiveness on outcome measure(s) for each study's objective were reviewed and examined to determine their implications on population health...
April 26, 2017: International Journal of Evidence-based Healthcare
https://www.readbyqxmd.com/read/28448325/combined-spinal-epidural-anesthesia-with-dexmedetomidine-based-sedation-for-multiple-corrective-osteotomies-in-a-child-with-osteogenesis-imperfecta-type-iii-a-case-report
#17
Anju Gupta, Geeta Kamal, Nishkarsh Gupta, Anil Aggarwal
Osteogenesis imperfecta (OI) is a rare disabling genetic connective tissue disorder. General anesthesia in these patients is associated with increased risks. Regional anesthesia is favored wherever feasible, but there are limited reports of use of a sole regional technique in OI in pediatric patients. Moreover, combined spinal-epidural anesthesia has never been described previously. We are reporting the use of combined spinal-epidural anesthesia for a prolonged surgery (multiple osteotomies) of lower limbs in a 10-year-old wheelchair-bound child with OI type III...
April 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28448088/individually-tailored-dietary-counseling-among-old-home-care-clients-effects-on-nutritional-status
#18
S Pölönen, M Tiihonen, S Hartikainen, I Nykänen
OBJECTIVE: To evaluate the effect of individually tailored dietary counseling on nutritional status among home care clients aged 75 years or older. DESIGN: Non-randomised controlled study. SETTING AND PARTICIPANTS: The study sample consisted of 224 home care clients (≥ 75 years) (intervention group, n = 127; control group, n = 100) who were at protein-energy malnutrition (PEM) or risk of PEM (MNA score <24 and plasma albumin <35 g/L)...
2017: Journal of Nutrition, Health & Aging
https://www.readbyqxmd.com/read/28447919/postpartum-dyspareunia-and-sexual-functioning-a-prospective-cohort-study
#19
Liesbet Lagaert, Steven Weyers, Helena Van Kerrebroeck, Els Elaut
OBJECTIVES: Sexual functioning is an important concern for women in the postpartum period. The aim of this research was to investigate the prevalence and determinants of dyspareunia and sexual dysfunction before and after childbirth. METHODS: Between November 2013 and April 2014, 109 women in their third trimester of pregnancy were enrolled in a prospective cohort study at Ghent University Hospital. Dyspareunia, sexual functioning and quality of life (QOL) were evaluated at enrolment and again 6 weeks and 6 months postpartum...
April 27, 2017: European Journal of Contraception & Reproductive Health Care
https://www.readbyqxmd.com/read/28447499/is-pre-implantation-genetic-diagnosis-pgd-more-of-a-strain-regarding-satisfaction-with-marital-quality-for-male-or-female-partners-a-three-year-follow-up-study
#20
Stina Järvholm, Ann Thurin-Kjellberg, Malin Broberg
INTRODUCTION: Men and women with a hereditary genetic disease are faced with different options when they plan to become parents. One is pre-implantation genetic diagnosis (PGD) which is a combination of in vitro fertilization (IVF) and genetic analysis of the embryo before implantation. The present study focuses on how men and women planning for PGD experience the quality of marital satisfaction when they apply for treatment and again, three years later. METHODS: The study was a prospective cohort study where all couples (n = 22) applying for PGD during 2010 and 2011 were eligible...
April 27, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
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