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Different approaches for dealing with rare variants in family-based genetic studies: application of a Genetic Analysis Workshop 17 problem

Almeida, Marcio Alfonso de; Horimoto, Andréa Roseli Vançan Russo; Oliveira, Paulo Lopes de; Krieger, Jose Eduardo; Pereira, Alexandre da Costa
Fonte: BioMed Central; London Publicador: BioMed Central; London
Tipo: Poster ou Painel
ENG
Relevância na Pesquisa
26.02%
Rare variants are becoming the new candidates in the search for genetic variants that predispose individuals to a phenotype of interest. Their low prevalence in a population requires the development of dedicated detection and analytical methods. A family-based approach could greatly enhance their detection and interpretation because rare variants are nearly family specific. In this report, we test several distinct approaches for analyzing the information provided by rare and common variants and how they can be effectively used to pinpoint putative candidate genes for follow-up studies. The analyses were performed on the mini-exome data set provided by Genetic Analysis Workshop 17. Eight approaches were tested, four using the trait’s heritability estimates and four using QTDT models. These methods had their sensitivity, specificity, and positive and negative predictive values compared in light of the simulation parameters. Our results highlight important limitations of current methods to deal with rare and common variants, all methods presented a reduced specificity and, consequently, prone to false positive associations. Methods analyzing common variants information showed an enhanced sensibility when compared to rare variants methods. Furthermore...

A atividade artesanal com fibra de bananeira em Comunidades Quilombolas do Vale do Ribeira (SP).; Activities in handcraft from banana plant fibre in Quilombola communities in The Ribeira Valley (São Paulo State).

Santos, Katia Maria Pacheco dos
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 19/05/2005 PT
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O presente estudo trata da descrição e análise da atividade artesanal com fibra de bananeira praticada pelas comunidades quilombolas de Ivaporunduva, André Lopes e Sapatu, município de Eldorado, região do Vale do Ribeira, tendo como referencial teórico o conceito de ecodesenvolvimento proposto por Sachs (1980). A atividade artesanal com fibra de bananeira foi iniciada no ano de 1997, através de um projeto de pesquisa executado pela Escola Superior de Agricultura "Luiz de Queiroz" (ESALQ) - Universidade São Paulo (USP): "Projeto de Aproveitamento de Resíduos da Agroindústria da Banana no Vale do Ribeira, SP" cujo objetivo consistia em realizar estudos que resultassem em alternativas economicamente viáveis para o aproveitamento dos resíduos da bananicultura na região. Desde de então, a atividade artesanal com fibra de bananeira vêm sendo praticada por integrantes das comunidades referidas. Para coletas de dados foram utilizadas técnicas comumente trabalhadas pelas nas ciências sociais como: observação participante, entrevistas informais não-estruturadas e semi-estruturadas com os artesãos envolvidos e com representantes de Instituições governamentais e não governamentais atuantes no processo. Verificou-se neste trabalho a contribuição da atividade artesanal na valorização da mulher...

Turismo rural e o fortalecimento da agroindústria local : estudo da rota das salamarias - Marau/RS

Bonamigo, Greice Zanotto
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Trabalho de Conclusão de Curso Formato: application/pdf
POR
Relevância na Pesquisa
26.06%
As atividades não agrícolas inseridas no meio rural tem se desenvolvido muito nos últimos anos no Brasil, vindo a complementar as atividades agrícolas existentes na propriedade. Diante das dificuldades enfrentadas no meio rural, principalmente pelo pequeno produtor familiar, faz com que muitos deles busquem alternativas viáveis de diversificação econômica a fim de complementar a renda das atividades já existentes na propriedade. Dessa forma as atividades não agrícolas principalmente as ligadas ao turismo rural surgem como alternativa complementar de renda a pequena propriedade agrícola. O presente trabalho analisa o turismo rural enquanto meio de fortalecimento das agroindústrias familiares tendo como foco de pesquisa a Rota das Salamarias, a qual está inserida no espaço rural do município de Marau, Rio Grande do Sul, através da descrição dos empreendimentos do roteiro turístico que desenvolvem atividades agroindustriais, da relação existente entre os produtos com a cultura local e da origem e mudanças ocorridas nessas agroindústrias. O estudo teve como base a pesquisa qualitativa, sendo utilizadas também a pesquisa bibliográfica e a pesquisa de campo através de entrevistas semi-estruturadas realizadas com os proprietários das agroindústrias. Os resultados obtidos mostram a importância da atividade turística para as propriedades integrantes da rota as quais tem evidenciado o potencial dos produtos comercializados contribuindo assim para o desenvolvimento local. Nesse sentido podemos perceber que o desenvolvimento do turismo no município tem contribuído para o fortalecimento das agroindústrias familiares fazendo com que as famílias permaneçam no campo além de servir como uma alternativa complementar de renda.; The inserted non-farm activities in rural areas has developed in recent years in Brazil...

Shaping the Future of Academic Health Centers: The Potential Contributions of Departments of Family Medicine

Newton, Warren P.; DuBard, C. Annette
Fonte: Copyright 2006 Annals of Family Medicine, Inc. Publicador: Copyright 2006 Annals of Family Medicine, Inc.
Tipo: Artigo de Revista Científica
Publicado em /09/2006 EN
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35.89%
Academic health centers (AHCs) must change dramatically to meet the changing needs of patients and society, but how to do this remains unclear. The purpose of this supplement is to describe ways in which departments of family medicine can play leadership roles in helping AHCs evolve. This overview provides background for case studies and commentaries about the contribution of departments of family medicine in 5 areas: (1) ambulatory and primary care, (2) indigent care, (3) education in community and international settings, (4) workforce policy and practice, and (5) translational research.

New therapies for sepsis: focus on the interleukin (IL)12 family member IL27

Neurath, Markus F
Fonte: BMJ Group Publicador: BMJ Group
Tipo: Artigo de Revista Científica
Publicado em /11/2007 EN
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35.81%
Sepsis is a severe complication of abdominal infections such as peritonitis and is associated with high mortality. Unfortunately, the molecular mechanisms controlling the development of sepsis are still incompletely understood. Interestingly, the interleukin (IL) 12 family member IL27 seems to play a key role in sepsis. In a murine model of septic peritonitis induced by caecal ligation and puncture (CLP), IL27 levels were found to be strongly induced. Furthermore, mice deficient for the EBI3 subunit of IL27 were resistant to CLP‐induced septic peritonitis as compared to wild‐type controls. This effect could be suppressed by injection of recombinant IL27. Further studies demonstrated that IL27 directly suppresses endotoxin‐induced production of reactive oxygen intermediates by isolated primary murine granulocytes. The significance of this observation was underlined by studies on in vivo blockade of IL27 function using a newly designed soluble IL27 receptor fusion protein (sWSX‐Fc). Such treatment led to significantly increased survival after CLP as compared to control‐treated mice. These findings indicate that IL27 is an important negative regulator of innate immune cells in septic peritonitis. Blockade of IL27 function could be an interesting novel approach for the treatment of patients with sepsis.

Changes in Family Life and Challenges in Primary Care: The advent of the postmodern family

Shorter, Edward
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /11/1991 EN
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35.91%
Fragmentation of the postmodern family affects several aspects of primary care. In prevention, the physician-patient relationship is most important in forestalling abuse. In morbidity and diagnosis, single or socially isolated patients are more vulnerable to diseases, such as total allergy syndrome. In acute care, fragmentation increases the number of elderly patients in hospital. And in rehabilitation, the two-career family is no longer able to supplement hospital nursing care as it once did.

Dietary supplement use by South Korean adults: Data from the national complementary and alternative medicine use survey (NCAMUS) in 2006

Ock, Sun-Myeong; Hwang, Seung-Sik; Lee, Jeong-Seop; Song, Chan-Hee; Ock, Chan-Myung
Fonte: The Korean Nutrition Society and the Korean Society of Community Nutrition Publicador: The Korean Nutrition Society and the Korean Society of Community Nutrition
Tipo: Artigo de Revista Científica
EN
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26.13%
There has been little data on the prevalence of supplement use and the characteristics of the dietary supplement users in the Republic of Korea. This study presents the prevalence and the details of any dietary supplement use and the characteristics of the adults who use dietary supplements in the Republic of Korea. Between May 18 and June 16, 2006, nationwide and population-weighted personal interviews with 6,201 adult aged from 30 to 69 years were conducted and the final sample consisted of 3,000 people with a 49.8% response rate. We examined the prevalence and details of the use of dietary supplements and the characteristics of those who use the dietary supplement among adults. About sixty two percent of adults had taken any dietary supplement during the previous 12-month period in 2006. The most commonly reported dietary supplement was ginseng, followed by multivitamins, glucosamine, probiotics, and vitamin C. Female (versus male), an older age group, a higher family income, those living in metropolitan cities, those with marital experience, those with a higher level of education, and those having medical problems had a greater likelihood of reporting the use of any dietary supplements. The particular relationships differed depending on the type of supplement. The most Korean adults took one more dietary supplement and the dietary supplement users had different demographic and health characteristics compared to those of the nonusers. Research on diet supplements by the medical community is needed in the future.

Family History in Primary Care Pediatrics

Tarini, Beth A.; McInerney, Joseph D.
Fonte: American Academy of Pediatrics Publicador: American Academy of Pediatrics
Tipo: Artigo de Revista Científica
Publicado em /12/2013 EN
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The family history has been called the first genetic test; it was a core element of primary care long before the current wave of genetics technologies and services became clinically relevant. Risk assessment based on family history allows providers to personalize and prioritize health messages, shifts the focus of health care from treatment to prevention, and can empower individuals and families to be stewards of their own health. In a world of rising health care costs, the family history is an important tool, with its primary cost being the clinician’s time. However, a recent National Institutes of Health conference highlighted the lack of substantive evidence to support the clinical utility of family histories. Annual collection of a comprehensive 3-generation family history has been held up as the gold standard for practice. However, interval family histories targeted to symptoms and family histories tailored to a child’s life stage (ie, age-based health) may be important and underappreciated methods of collecting family history that yield clinically actionable data and supplement existing family history information. In this article, we review the various applications, as well as capabilities and limitations, of the family history for primary care providers.

Merging Systems: Integrating Home Visitation and the Family-Centered Medical Home

Tschudy, Megan M.; Toomey, Sara L.; Cheng, Tina L.
Fonte: American Academy of Pediatrics Publicador: American Academy of Pediatrics
Tipo: Artigo de Revista Científica
Publicado em /11/2013 EN
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35.81%
To improve the health of children and bend the health care cost curve we must integrate the individual and population approaches to health and health care delivery. The 2012 Institute of Medicine (IOM) report Primary Care and Public Health: Exploring Integration to Improve Population Health laid out the continuum for integration of primary care and public health stretching from isolation to merging systems. Integration of the family-centered medical home (FCMH) and home visitation (HV) would promote overall efficiency and effectiveness and help achieve gains in population health through improving the quality of health care delivered, decreasing duplication, reinforcing similar health priorities, decreasing costs, and decreasing health disparities. This paper aims to (1) provide a brief description of the goals and scope of care of the FCMH and HV, (2) outline the need for integration of the FCMH and HV and synergies of integration, (3) apply the IOM’s continuum of integration framework to the FCMH and HV and describe barriers to integration, and (4) use child developmental surveillance and screening as an example of the potential impact of HV-FCMH integration.

Family Medicine Forum Research Proceedings 2013/Compte rendu sur la recherche au Forum en médecine familiale 2013

Fonte: College of Family Physicians of Canada Publicador: College of Family Physicians of Canada
Tipo: Artigo de Revista Científica
Publicado em /07/2014 EN
Relevância na Pesquisa
35.81%

Drug Reaction With Herbal Supplement: A Possible Case of Drug Induced Lupus Erythematosus

Leelavathi, M; Jamani, NA; Muhammad, M; Adawiyah, J; Aziz, NA
Fonte: Academy of Family Physician of Malaysia Publicador: Academy of Family Physician of Malaysia
Tipo: Artigo de Revista Científica
Publicado em 31/08/2010 EN
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35.87%
A 24-year-old lady presented with four days history of fever, non-pruritic rash, ankle pain and swelling. She had consumed herbal supplement five days before the onset of symptoms. Examinations revealed erythematous maculo-papular lesions of varying sizes on sun exposed areas. Patient was suspected to have Drug Induced Lupus Erythematosus (DILE) and subsequently symptoms subsided rapidly on withholding the herbal medication.

A quality dietary supplement: before you start and after it’s marketed—a conference report

LeDoux, Mark A.; Appelhans, Kristy R.; Braun, Lesley A.; Dziedziczak, Darren; Jennings, Sam; Liu, Laura; Osiecki, Henry; Wyszumiala, Edward; Griffiths, James C.
Fonte: Springer Berlin Heidelberg Publicador: Springer Berlin Heidelberg
Tipo: Artigo de Revista Científica
EN
Relevância na Pesquisa
35.87%
Consumers worldwide are turning to dietary supplements as one part of their personal goal to lead healthier and more active lives. In truth, the quality of life now supersedes the length of life as no one would trade living to one hundred (the last forty with compromised physical abilities and decreased mental acuity) for 80 years of travel, time with family, and intellectual pursuits. If there is the possibility of preventing a disease or debilitating condition through efficient lifestyle changes (additions, subtractions, modifications) and to also avoid the costly and escalating medical and pharmaceutical treatments that accompany having the disease/condition, then a sensible individual would focus on their overall health and wellness…proactively, instead of reactively. However, an important caveat is that over-regulation or inappropriate application of current regulations can increase the price of dietary supplements and nutritional products and thus cause underutilization of the potentially beneficial physiological attributes of these products. Conversely, strict adherence to regulatory guidelines could result in safer dietary supplements and fewer adverse reactions requiring medical attention. If new regulations or stricter interpretation/application of existing regulations result in certain dietary supplements being taken off the market...

Family Medicine Forum Research Proceedings 2014/Compte rendu sur la recherche au Forum en médecine familiale 2014

Fonte: College of Family Physicians of Canada Publicador: College of Family Physicians of Canada
Tipo: Artigo de Revista Científica
Publicado em /02/2015 EN
Relevância na Pesquisa
35.81%

Utilisation des suppléments alimentaires chez les athlètes d’élite québécois

Fréchette, Martin
Fonte: Université de Montréal Publicador: Université de Montréal
Tipo: Thèse ou Mémoire numérique / Electronic Thesis or Dissertation
FR
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26.09%
Ce projet découle du Canadian Sport Centre Dietary Study qui avait pour objectif d’évaluer les habitudes de consommation de suppléments alimentaires chez les athlètes canadiens et de déterminer si des différences régionales existaient. Un nombre de sujets était prédéterminé pour chaque province en considération du nombre d’athlètes identifiés comme Excellence, Élite ou Relève par les Centres d’entraînement nationaux et les organismes gouvernementaux. Pour ce mémoire, seules les données associées aux athlètes du Québec ont été considérées. Quarante-trois athlètes ont répondu à un questionnaire sur l’utilisation des suppléments alimentaires, 71 ont fourni un journal alimentaire de trois jours et 42 parmi ces derniers ont remis les deux documents. La prévalence d’utilisation des suppléments alimentaires était de 90,7%. Les utilisateurs consommaient en moyenne 3,35 produits différents, particulièrement des boissons énergétiques (48,8%), des multivitamines-minéraux (37,2%), des produits de santé naturels (37,2%) et des suppléments de protéines en poudre (34,9%). Les athlètes souhaitaient maintenir leur santé (27,9%) et améliorer leur niveau d’énergie (27,9%) ou leur récupération (25...

Corporate Governance Scorecards : Assessing and Promoting the Implementation of Codes of Corporate Governance

International Finance Corporation
Fonte: Washington, DC Publicador: Washington, DC
Tipo: Publications & Research :: Working Paper; Publications & Research
ENGLISH; EN_US
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This is a supplement to second IFC's toolkit: developing Corporate Governance codes of best practice. The focus of second toolkit is the development of codes of corporate governance. This supplement focuses narrowly on how to use scorecards to measure the observance and implementation of such codes. It does not cover the full panoply of governance assessment tools. This supplement provides practical guidance and a step-by step approach on how to develop a corporate governance scorecard. It also presents different approaches to scorings based on the experience of different scorecard users in different countries. This supplement is not intended to be a full manuscript of all the available tools or assessment techniques but more a guidance on various possible uses and applications of scorecards It is, however, intended to cover most of the issues that might confront any institution, regulator, stock exchange, and so on, that has in mind to develop a scorecard and to provide some practical guidance on how to approach those issues. This supplement provides practical guidance and a step-by step approach on how to develop a corporate governance scorecard. It also presents different approaches to scorings based on the experience of different scorecard users in different countries. The supplement also shows how scorecards are adapted to local circumstances and the local corporate governance framework.

Statistics for Small States : A Supplement to the World Development Indicators 2009

World Bank
Fonte: Washington, DC Publicador: Washington, DC
Tipo: Publications & Research :: World Development Indicators; Publications & Research :: Publication
ENGLISH; EN_US
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In 2000 the World Bank made a corporate commitment to organize a small states Forum each year in the context of the International Monetary Fund (IMF) and World Bank annual meetings. The forum is intended to raise the profile of small states issues and provide an opportunity for small state officials to bring their views and ideas to the attention of the international community. Forty-eight World Bank members comprise the small states forum, all but five having populations below 1.5 million. These countries are all included in the World Development Indicators database, but countries with populations of less than one million do not appear in the main tables of the print publication. To better serve this important segment of the Bank's membership and to help highlight the challenges they face, this special supplement to the World Development Indicators (WDI) has been produced, covering critical development factors. The data in this supplement cover 40 members of the small states forum excluding the high-income countries of Bahrain...

Living with traumatic brain injury: views of survivors and family members

Browne, Catherine
Fonte: University of Limerick Publicador: University of Limerick
Tipo: info:eu-repo/semantics/doctoralThesis; all_ul_research; ul_published_reviewed; ul_theses_dissertations
ENG
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35.96%
peer-reviewed; Aim: This study is principally focused on the experiences of survivors of Traumatic Brain Injury (TB1) in Ireland and family members. Literature: The literature draws mainly from the discIpline of sociology and the following sub-disciplines: the sociology of health and illness, the sociology of organisations, disability, illness narratives and family theory. Conceptual Framework: The ovcrarching analytical framework utilises and builds on the traditional biomedical model of TB1, acknowledging that the biomedical model has much to infonn with regard to TB1. However, this study examined the wider implications of TB1 on individuals, families. health professionals, government and society. Therefore, an holistic model is appropriate to supplement the traditional approach. This was found to be useful for considering TBI in the Irish context and allowed for the inclusion of social aspects of interest. Methods: This research utilised a mixed methods approach. A retrospective study which involved a quantitative data gathering exercise resulted in the development of substantial dala sets of admissions to the only two specialised neurosurgical units in Ireland: these were Beaumont Hospital, Dublin and Cork University Hospital. Qualitative interviews with survivors and family members were conducted. The purposive sample selection of survivors and family members was drawn from the hospital datasets referred to above. Findings: Key findings focus on the considerable adjustment necessary for many of the survivors of TBI. The chaos that entered people's lives...

Should Medical Anthropology be Required for Family Physicians?: Becoming sensitive to cultural dimensions of illness

Deagle, George L.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /05/1992 EN
Relevância na Pesquisa
35.86%
The educational preparation of practitioners might change as family medicine shifts its emphasis to a more humanistic approach. Medical anthropology offers particular promise as a training experience. Learning about the role of culture, including beliefs and values surrounding illness, can supplement basic science training. Improved delivery of health care is likely if caregivers are sensitive to cultural dimensions of patients' illnesses.

Preparing for rural practice. Enhanced experience for medical students and residents.

Moores, D. G.; Woodhead-Lyons, S. C.; Wilson, D. R.
Fonte: College of Family Physicians of Canada Publicador: College of Family Physicians of Canada
Tipo: Artigo de Revista Científica
Publicado em /05/1998 EN
Relevância na Pesquisa
35.89%
PROBLEM ADDRESSED: Recruitment and retention of physicians appropriately trained for rural practice in Canada continues to be a serious challenge. We describe three integrated educational programs at the University of Alberta that aim to increase students' and residents' participation in rural health care and encourage them to take up practice in rural areas. OBJECTIVES OF PROGRAM: To expand and enrich rural educational experiences at undergraduate and postgraduate levels and to supplement family medicine postgraduate education with a third-year special-skills program for rural practice. MAIN COMPONENTS OF PROGRAM: Main components are sustained, reliable funding from the Government of Alberta for the Rural Physician Action Plan; adequate infrastructure to support the program; and commitment by university faculty, rural physicians, and communities. CONCLUSION: The rural-based educational programs have allowed more than 95% of medical students to gain experience in rural areas. The number of family medicine residents doing rural rotations has doubled, and the length of experiences in rural practice has increased fourfold. The third-year special-skills training for rural practice has expanded greatly, and at least 26 of 49 participants have gone on to enter rural practice. In more than 30 rural Alberta communities...

Family physicians and the mental health system. Report from the Mental Health Supplement to the Ontario Health Survey.

Lesage, A. D.; Goering, P.; Lin, E.
Fonte: College of Family Physicians of Canada Publicador: College of Family Physicians of Canada
Tipo: Artigo de Revista Científica
Publicado em /02/1997 EN
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36.06%
OBJECTIVE: To determine family physicians' role in the mental health care system. DESIGN: The Mental Health Supplement to the Ontario Health Survey is an epidemiologic, retrospective, home-interview survey. Results reported here are based on responses of a weighted sample of patients aged 15 to 64. SETTING: Ontario, 1990 to 1991. PARTICIPANTS: Random sample of 9953 household residents. MAIN OUTCOME MEASURES: Standardized assessment of mental disorders, associated risk factors and disability, and patterns of use of mental health services. RESULTS: More people seek mental health services from their family physicians (FPs) than from psychiatrists, social workers, or psychologists. Among patients who consulted for mental health purposes, more than 35.4% saw FPs only, 24.7% saw FPs and other mental health care providers (psychiatrists, psychologists, social workers, others), and 40% saw other mental health care providers only. There were few sociodemographic, diagnostic, or clinical severity differences between the FP-only group and the other two groups. Some evidence suggested FPs saw more recent onset cases, but they were also involved in joint care for more complex or disabled cases. More than 57% of those seeing FPs received medication; 43% received other forms of care. Those seeing FPs only made four visits per year; those who consulted other mental health professionals made 14 to 20. CONCLUSIONS: Our study confirms FPs' important role in the current mental health care system.