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https://www.readbyqxmd.com/read/27906198/population-screening-for-brca1-brca2-mutations-lessons-from-qualitative-analysis-of-the-screening-experience
#1
Sari Lieberman, Amnon Lahad, Ariela Tomer, Carmit Cohen, Ephrat Levy-Lahad, Aviad Raz
PURPOSE: Population screening for BRCA1/BRCA2. mutations is being considered for Ashkenazi Jews (AJ) because 2.5% carry recurrent deleterious mutations and effective cancer prevention exists. This study aimed to provide a qualitative focus on perspectives of individuals, particularly carriers, who were tested through a screening trial. In this trial, the pretest process included only written information. METHODS: Interviews were performed with 26 carriers and 10 noncarriers who participated in a BRCA population screening trial for AJ...
December 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27906166/which-brca-genetic-testing-programs-are-ready-for-implementation-in-health-care-a-systematic-review-of-economic-evaluations
#2
Elvira D'Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari
PURPOSE: There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. METHODS: We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. RESULTS: Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27890027/a-longitudinal-description-of-emergency-medical-services-professionals-by-race-ethnicity
#3
Remle P Crowe, Roger Levine, Jennifer J Eggerichs, Melissa A Bentley
OBJECTIVE: The objective of this paper was to compare demographics, employment variables, satisfaction, and motivation for entering the field of Emergency Medical Services (EMS) between members of under-represented races/ethnicities and members of the majority group. METHODS: A cohort of nationally certified EMS professionals was followed for 10 years through annual surveys; however, race/ethnicity was only available for 9 years (2000-2008). Descriptive statistics and 95% confidence intervals (CIs) were calculated and significance was determined by lack of CI overlap...
November 28, 2016: Prehospital and Disaster Medicine
https://www.readbyqxmd.com/read/27869241/new-market-labor-and-obesity-a-nation-wide-italian-cross-sectional-study
#4
Pamela Barbadoro, Elisa Ponzio, Carlos Juan Chiatti, Francesco Di Stanislao, Marcello Mario D'Errico, Emilia Prospero
OBJECTIVES: To investigate the prevalence of obesity among different types of employment status in the Italian working population, and to examine associated risk factors. MATERIAL AND METHODS: Cross-sectional survey of 36 814 people that declared to have been occupied with the same type of contract for at least 5 years was analyzed. Multivariable logistic regression models were built considering workers' sex, age, education, family body mass index (BMI) category, leisure time and occupational physical activity, weight control habits, smoking habit, use of drugs, number of working hours per week, and type of working contract...
November 18, 2016: International Journal of Occupational Medicine and Environmental Health
https://www.readbyqxmd.com/read/27857164/mirnasong-a-web-based-tool-for-generation-and-testing-of-mirna-sponge-constructs-in-silico
#5
Tomas Barta, Lucie Peskova, Ales Hampl
MicroRNA (miRNA) sponges are RNA transcripts containing multiple high-affinity binding sites that associate with and sequester specific miRNAs to prevent them from interacting with their target messenger (m)RNAs. Due to the high specificity of miRNA sponges and strong inhibition of target miRNAs, these molecules have become increasingly applied in miRNA loss-of-function studies. However, improperly designed sponge constructs may sequester off-target miRNAs; thus, it has become increasingly important to develop a tool for miRNA sponge construct design and testing...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27854358/causes-of-death-in-prader-willi-syndrome-prader-willi-syndrome-association-usa-40-year-mortality-survey
#6
Merlin G Butler, Ann M Manzardo, Janalee Heinemann, Carolyn Loker, James Loker
BACKGROUND: Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. METHODS: The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999...
November 17, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27812032/direct-evidence-for-the-semipersistent-transmission-of-cucurbit-chlorotic-yellows-virus-by-a-whitefly-vector
#7
Jingjing Li, Xiangzhi Liang, Xueli Wang, Yan Shi, Qinsheng Gu, Yen-Wen Kuo, Bryce W Falk, Fengming Yan
Cucurbit chlorotic yellows virus (CCYV) (genus Crinivirus, family Closteroviridae) is an emerging plant virus, and is now spreading and causing severe economic losses to cucurbit crops in many Asian countries. CCYV is believed to be transmitted specifically by the sweetpotato whitefly, Bemisia tabaci, in a semipersistent manner. In the present study, we provide direct evidence for the semipersistent transmission of CCYV by Mediterranean (MED) cryptic species of B. tabaci complex. We investigated CCYV transmission characteristics, and immunofluorescently labeled and localized the virus retention site within the vector by laser confocal microscopy...
November 4, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27763633/engagement-and-communication-among-participants-in-the-clinseq-genomic-sequencing-study
#8
Gillian W Hooker, Kendall L Umstead, Katie L Lewis, Laura K Koehly, Leslie G Biesecker, Barbara B Biesecker
PURPOSE: As clinical genome sequencing expand its reach, understanding how individuals engage with this process are of critical importance. In this study, we aimed to describe internal engagement and its correlates among a ClinSeq cohort of adults consented to genome sequencing and receipt of results. METHODS: This study was framed using the precaution adoption process model (PAPM), in which knowledge predicts engagement and engagement predicts subsequent behaviors...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27739379/challenges-faced-and-support-received-older-adults-perceptions-of-hurricane-sandy
#9
Allison R Heid, Seran Schug, Francine P Cartwright, Rachel Pruchno
OBJECTIVE: Individuals exposed to natural disasters are at risk for negative physical and psychological outcomes. Older adults may be particularly vulnerable; however, social support can act as a resource to help individuals respond to severe stressors. This study explored the challenges older people faced before, during, and after Hurricane Sandy in October 2012 and the people they turned to for support. METHODS: Semi-structured interviews were conducted with 20 older adults in New Jersey drawn from the ORANJ BOWL (Ongoing Research on Aging in New Jersey - Bettering Opportunities for Wellness in Life) research panel, who experienced high levels of primary home damage during Hurricane Sandy...
October 14, 2016: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/27737721/children-in-the-syrian-civil-war-the-familial-educational-and-public-health-impact-of-ongoing-violence
#10
Abdallah Mohamed Elsafti, Gerlant van Berlaer, Mohammad Al Safadi, Michel Debacker, Ronald Buyl, Atef Redwan, Ives Hubloue
OBJECTIVE: The Syrian civil war since 2011 has led to one of the most complex humanitarian emergencies in history. The objective of this study was to document the impact of the conflict on the familial, educational, and public health state of Syrian children. METHODS: A cross-sectional observational study was conducted in May 2015. Health care workers visited families with a prospectively designed data sheet in 4 Northern Syrian governorates. RESULTS: The 1001 children included in this study originated from Aleppo (41%), Idleb (36%), Hamah (15%), and Lattakia (8%)...
October 14, 2016: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/27735924/copy-number-variation-is-an-important-contributor-to-the-genetic-causality-of-inherited-retinal-degenerations
#11
Kinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma C Bedoukian, Xiaosong Zhu, Hongbo M Xie, Xiaowu Gai, Bart P Leroy, Eric A Pierce
PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs. METHODS: Twenty-eight cases previously unsolved with a targeted NGS were investigated with whole-genome single-nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) arrays...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27721673/trauma-informed-medical-care-patient-response-to-a-primary-care-provider-communication-training
#12
Bonnie L Green, Pamela A Saunders, Elizabeth Power, Priscilla Dass-Brailsford, Kavitha Bhat Schelbert, Esther Giller, Larry Wissow, Alejandra Hurtado de Mendoza, Mihriye Mete
Trauma exposure predicts mental disorders and health outcomes; yet there is little training of primary care providers about trauma's effects, and how to better interact with trauma survivors. This study adapted a theory-based approach to working with trauma survivors, Risking Connection, into a 6-hour CME course, Trauma-Informed Medical Care (TI-Med), to evaluate its feasibility and preliminary efficacy. We randomized four primary care sites to training or wait-list conditions; PCPs at wait-list sites were trained after reassessment...
2016: Journal of Loss & Trauma
https://www.readbyqxmd.com/read/27711073/genetic-modifiers-of-chek2-1100delc-associated-breast-cancer-risk
#13
Taru A Muranen, Dario Greco, Carl Blomqvist, Kristiina Aittomäki, Sofia Khan, Frans Hogervorst, Senno Verhoef, Paul D P Pharoah, Alison M Dunning, Mitul Shah, Robert Luben, Stig E Bojesen, Børge G Nordestgaard, Minouk Schoemaker, Anthony Swerdlow, Montserrat García-Closas, Jonine Figueroa, Thilo Dörk, Natalia V Bogdanova, Per Hall, Jingmei Li, Elza Khusnutdinova, Marina Bermisheva, Vessela Kristensen, Anne-Lise Borresen-Dale, Nbcs Investigators, Julian Peto, Isabel Dos Santos Silva, Fergus J Couch, Janet E Olson, Peter Hillemans, Tjoung-Won Park-Simon, Hiltrud Brauch, Ute Hamann, Barbara Burwinkel, Frederik Marme, Alfons Meindl, Rita K Schmutzler, Angela Cox, Simon S Cross, Elinor J Sawyer, Ian Tomlinson, Diether Lambrechts, Matthieu Moisse, Annika Lindblom, Sara Margolin, Antoinette Hollestelle, John W M Martens, Peter A Fasching, Matthias W Beckmann, Irene L Andrulis, Julia A Knight, kConFab/Aocs Investigators, Hoda Anton-Culver, Argyrios Ziogas, Graham G Giles, Roger L Milne, Hermann Brenner, Volker Arndt, Arto Mannermaa, Veli-Matti Kosma, Jenny Chang-Claude, Anja Rudolph, Peter Devilee, Caroline Seynaeve, John L Hopper, Melissa C Southey, Esther M John, Alice S Whittemore, Manjeet K Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Douglas F Easton, Marjanka K Schmidt, Heli Nevanlinna
PURPOSE: CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC). METHODS: Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction...
October 6, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27711071/increasing-the-sensitivity-of-clinical-exome-sequencing-through-improved-filtration-strategy
#14
Hanan E Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S Alkuraya
BACKGROUND: Clinical exome sequencing (CES) has greatly improved the diagnostic process for individuals with suspected genetic disorders. However, the majority remains undiagnosed after CES. Although understanding potential reasons for this limited sensitivity is critical for improving the delivery of clinical genomics, research in this area has been limited. MATERIALS AND METHODS: We first calculated the theoretical maximum sensitivity of CES by analyzing >100 families in whom a Mendelian phenotype is mapped to a single locus...
October 6, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27684037/streamlined-genetic-education-is-effective-in-preparing-women-newly-diagnosed-with-breast-cancer-for-decision-making-about-treatment-focused-genetic-testing-a-randomized-controlled-noninferiority-trial
#15
Veronica F Quinn, Bettina Meiser, Judy Kirk, Kathy M Tucker, Kaaren J Watts, Belinda Rahman, Michelle Peate, Christobel Saunders, Elizabeth Geelhoed, Margaret Gleeson, Kristine Barlow-Stewart, Michael Field, Marion Harris, Yoland C Antill, Linda Cicciarelli, Karen Crowe, Michael T Bowen, Gillian Mitchell
PURPOSE: Increasingly, women newly diagnosed with breast cancer are being offered treatment-focused genetic testing (TFGT). As the demand for TFGT increases, streamlined methods of genetic education are needed. METHODS: In this noninferiority trial, women aged <50 years with either a strong family history (FH+) or other features suggestive of a germ-line mutation (FH-) were randomized before definitive breast cancer surgery to receive TFGT education either as brief written materials (intervention group (IG)) or during a genetic counseling session at a familial cancer clinic (usual-care group (UCG))...
September 29, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27682008/the-sewol-ferry-disaster-experiences-of-a-community-based-hospital-in-ansan-city
#16
Jong-Hak Park, Hanjin Cho, Joo Yeong Kim, Joo-Hyun Song, Sungwoo Moon, Sang Hoon Cha, Byung-Min Choi, Chang-Su Han, Young-Hoon Ko, Hongjae Lee
The Sewol ferry disaster is one of the most tragic events in Korea's modern history. Among the 476 people on board, which included Danwon High School students (324) and teachers (14), 304 passengers died in the disaster (295 recovered corpses and 9 missing) and 172 survived. Of the rescued survivors, 72 were attending Danwon High School, located in Ansan City, and residing in a residence nearby. Because the students were young, emotionally susceptible adolescents, both the government and the parents requested the students be grouped together at a single hospital capable of appropriate psychiatric care...
September 29, 2016: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/27681852/emergency-preparedness-for-a-mass-gathering-the-2015-papal-visit-to-philadelphia
#17
Emma Paras, Matthew Butler, Brian F Maguire, Rich Scarfone
In September 2015, Pope Francis visited Philadelphia, Pennsylvania, and led outdoor events over the course of 2 days. As a result, The Children's Hospital of Philadelphia (CHOP) was faced with the challenge of planning for and responding to a mass gathering that was anticipated to be one of the largest in US history. As a result of unprecedented traffic restrictions, it was anticipated that patients, staff, and vendors would have severe challenges accessing the hospital, along with impaired communications from widespread cell phone service disruption...
September 29, 2016: Disaster Medicine and Public Health Preparedness
https://www.readbyqxmd.com/read/27647140/ethnomedicines-and-anti-parasitic-activities-of-pakistani-medicinal-plants-against-plasmodia-and-leishmania-parasites
#18
REVIEW
Akash Tariq, Muhammad Adnan, Rahila Amber, Kaiwen Pan, Sakina Mussarat, Zabta Khan Shinwari
BACKGROUND: Leishmaniasis and malaria are the two most common parasitic diseases and responsible for large number of deaths per year particularly in developing countries like Pakistan. Majority of Pakistan population rely on medicinal plants due to their low socio-economic status. The present review was designed to gather utmost fragmented published data on traditionally used medicinal plants against leishmaniasis and malaria in Pakistan and their scientific validation. METHODS: Pub Med, Google Scholar, Web of Science, ISI Web of knowledge and Flora of Pakistan were searched for the collection of data on ethnomedicinal plants...
2016: Annals of Clinical Microbiology and Antimicrobials
https://www.readbyqxmd.com/read/27644560/the-relationship-between-parents-with-a-history-of-childhood-problems-and-incidence-of-consequent-child-abuse
#19
Hiroko Hashimoto, Hiroe Tani, Tsuneo Ninomiya, Kenji Mori
The purpose of this study was to determine the factors related to the need for cooperation with child guidance centers with a focus on the presence or absence of a history of childhood problems in at-risk parents receiving support from their municipality. Among the 1890 parents who received child care support from public health nurses in the municipalities, 164 parents (8.7%) had a history of childhood problems. Among these, 50 parents (30.5%) received support from child guidance centers. The parents with a history of childhood problems had a higher incidence rate for receiving support from child guidance centers than other parents...
2016: Journal of Medical Investigation: JMI
https://www.readbyqxmd.com/read/27640725/emergency-medical-services-utilization-in-ems-priority-conditions-in-beirut-lebanon
#20
Mazen El Sayed, Hani Tamim, Ahel Al-Hajj Chehadeh, Amin A Kazzi
BACKGROUND: Early activation and use of Emergency Medical Services (EMS) are associated with improved patient outcomes in EMS priority conditions in developed EMS systems. This study describes patterns of EMS use and identifies predictors of EMS utilization in EMS priority conditions in Lebanon METHODS: This was a cross-sectional study of a random sample of adult patients presenting to the emergency department (ED) of a tertiary care center in Beirut with the following EMS priority conditions: chest pain, major trauma, respiratory distress, cardiac arrest, respiratory arrest, and airway obstruction...
December 2016: Prehospital and Disaster Medicine
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