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‣ Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

Simchoni, Sharon; Friedman, Eitan; Kaufman, Bella; Gershoni-Baruch, Ruth; Orr-Urtreger, Avi; Kedar-Barnes, Inbal; Shiri-Sverdlov, Ronit; Dagan, Efrat; Tsabari, Sigal; Shohat, Mordechai; Catane, Raphael; King, Mary-Claire; Lahad, Amnon; Levy-Lahad, Ephrat
Fonte: National Academy of Sciences Publicador: National Academy of Sciences
Tipo: Artigo de Revista Científica
Português
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Inherited mutations in BRCA1 and BRCA2 lead to significantly increased risks of breast and ovarian cancer. We used epidemiologic methods to evaluate the relative risks of breast cancer vs. ovarian cancer among women of Ashkenazi Jewish ancestry with inherited mutations in BRCA1 or BRCA2. The cancer of a family's index case (i.e., breast cancer vs. ovarian cancer) was significantly associated with site-specific risks of cancer in relatives known to carry mutations in BRCA1 or BRCA2. Specifically, breast cancer risks were higher among relatives of breast cancer index cases compared with relatives of ovarian cancer index cases [hazard ratio (HR) = 3.0, P < 0.001 for BRCA1 carriers and HR = 4.8, P = 0.017 for BRCA2 carriers], and ovarian cancer risks were higher among relatives of ovarian cancer index cases compared with relatives of breast cancer index cases (HR = 7.2, P = 0.001 for BRCA1 carriers and HR = 15.8, P = 0.018 for BRCA2 carriers). Breast and ovarian cancer risks also increased with more recent year of birth. For each later decade of birth, risk increased 1.2-fold (P = 0.03). Effects of cancer site of the index case and of birth cohort were independent. These results suggest that both genetic and nongenetic factors modify cancer risks among BRCA1 and BRCA2 mutation carriers...

‣ Incremental Lifetime Cancer Risks Computed for Benzo[a]pyrene and Two Tobacco-Specific N-nitrosamines in Mainstream Cigarette Smoke Compared with Lung Cancer Risks Derived from Epidemiologic Data

Watanabe, Karen H.; Djordjevic, Mirjana V.; Stellman, Steven D.; Toccalino, Patricia L.; Austin, Donald F.; Pankow, James F.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
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The manner in which humans smoke cigarettes is an important determinant of smoking risks. Of the few investigators that have predicted cancer risks from smoking on a chemical-specific basis, most used mainstream cigarette smoke (MCS) carcinogen emissions obtained via machine smoking protocols that only approximate human smoking conditions. Here we use data of Djordjevic et al. (J Natl Cancer Inst 2000; 92:106–111) for MCS emissions of three carcinogens measured under human smoking conditions to compute probability distributions of incremental lifetime cancer risk (ILCR) values using Monte Carlo simulations. The three carcinogens considered are benzo[a]pyrene, N'-nitrosonornicotine (NNN), and 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). Computed NNK ILCR values were compared with lifetime risks of lung cancer (ILCRCMDobsΣ−lung) derived from American Cancer Society Cancer Prevention Studies (CPS) I and II. Within the Monte Carlo simulation results, NNK was responsible for the greatest ILCR values for all cancer endpoints: median ILCR values for NNK were ~18-fold and 120-fold higher than medians for NNN and benzo[a]pyrene, respectively. For "regular" cigarettes, the NNK median ILCR for lung cancer was lower than ILCRCMDobsΣ−lung from CPS-I and II by >90-fold for men and >4-fold for women. Given what is known about chemical carcinogens in MCS...

‣ Surgical management of Meckel's diverticulum. An epidemiologic, population-based study.

Cullen, J J; Kelly, K A; Moir, C R; Hodge, D O; Zinsmeister, A R; Melton, L J
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /10/1994 Português
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OBJECTIVE: The authors determined whether Meckel's diverticulum, discovered incidentally at operation, should be removed. SUMMARY BACKGROUND DATA: It is not clear from the medical literature whether the risk of an incidental Meckel's diverticulectomy is greater than the risk of leaving the diverticulum in place. METHODS: The authors used the medical experience of Olmsted County, Minnesota residents for the period 1950 to 1992 to answer the question. RESULTS: During the period, 58 residents developed Meckel's complications that required diverticulectomies. The incidence of complications was 87 per 100,000 person-years, and the lifetime risk (to 80 years of age) of developing them was 6.4%. The risks were similar throughout the period and at all ages of life, but were greater among men (124 per 100,000 person-years) than women (50 per 100,000 person-years, p < 0.05). Diverticulectomies for complications carried an operative mortality and morbidity of 2% and 12% and a cumulative risk of long-term postoperative complications of 7%, whereas incidental diverticulectomies done in 87 residents during the period carried corresponding rates of only 1%, 2%, and 2%, respectively. CONCLUSIONS: Meckel's diverticula discovered incidentally at operation should be removed for most patients...

‣ Two Tuberculosis Genotyping Clusters, One Preventable Outbreak

Buff, Ann M.; Sosa, Lynn E.; Hoopes, Andrea J.; Buxton-Morris, Deborah; Condren, Thomas B.; Hadler, James L.; Haddad, Maryam B.; Moonan, Patrick K.; Lobato, Mark N.
Fonte: Association of Schools of Public Health Publicador: Association of Schools of Public Health
Tipo: Artigo de Revista Científica
Publicado em //2009 Português
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In 2006, eight community tuberculosis (TB) cases and a ninth incarceration-related case were identified during an outbreak investigation, which included genotyping of all Mycobacterium tuberculosis isolates. In 1996, the source patient had pulmonary TB but completed only two weeks of treatment. From February 2005 to May 2006, the source patient lived in four different locations while contagious. The outbreak cases had matching isolate spoligotypes; however, the mycobacterial interspersed repetitive unit (MIRU) patterns from isolates from two secondary cases differed by one tandem repeat at a single MIRU locus. The source patient's isolates showed a mixed mycobacterial population with both MIRU patterns. Traditional and molecular epidemiologic methods linked eight secondary TB cases to a single source patient whose incomplete initial treatment, incarceration, delayed diagnosis, and housing instability resulted in extensive transmission. Adequate treatment of the source patient's initial TB or early diagnosis of recurrent TB could have prevented this outbreak.

‣ Determinants of homicides in the state of Bahia, Brazil, in 2009

Sousa,Carlos Augusto Moreira de; Silva,Cosme Marcelo Furtado Passos da; Souza,Edinilsa Ramos de
Fonte: Associação Brasileira de Saúde Coletiva Publicador: Associação Brasileira de Saúde Coletiva
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/03/2014 Português
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PURPOSE: To carry out a study of association between socioeconomic and demographic factors and homicides in general population, in the state of Bahia, in 2009. METHODS: This is an ecological study. The data were collected from the database of the Information System about Mortality of the Ministry of Health, from the Brazilian Institute of Geography and Statistics and the Institute of Applied Economic Research. The Global Moran index was calculated for the detection of spatial autocorrelation, and the Local Moran index was calculated for the detection of spatial Clusters. The transformation in the variable answer (homicides rates) was performed and it was shaped using the Conditional Autoregressive Model. RESULTS: The data showed spatial autocorrelation. Two clusters of municipalities with high rates of homicides were identified, one located predominantly in the Greater Metropolitan Region of Salvador and the other in the South Region of Bahia, especially Eunápolis and Lauro de Freitas, which had the highest rates. The Average Residents Variables, local GDP and the Percentage of Illiteracy presented an inverse association with homicide rates, and the variables Firjan's municipal development index of work and income. Enrolment in high school and the Average of Bolsa Família were directly associated. CONCLUSIONS: The urbanization process...

‣ Performance of six diagnostic tests to screen for Chagas disease in blood banks and prevalence of Trypanosoma cruzi infection among donors with inconclusive serology screening based on the analysis of epidemiological variables

Pereira,Gilberto de Araujo; Louzada-Neto,Francisco; Barbosa,Valdirene de Fátima; Ferreira-Silva,Márcia Maria; Moraes-Souza,Helio de
Fonte: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular Publicador: Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2012 Português
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OBJECTIVE: The frequent occurrence of inconclusive serology in blood banks and the absence of a gold standard test for Chagas'disease led us to examine the efficacy of the blood culture test and five commercial tests (ELISA, IIF, HAI, c-ELISA, rec-ELISA) used in screening blood donors for Chagas disease, as well as to investigate the prevalence of Trypanosoma cruzi infection among donors with inconclusive serology screening in respect to some epidemiological variables. METHODS: To obtain estimates of interest we considered a Bayesian latent class model with inclusion of covariates from the logit link. RESULTS: A better performance was observed with some categories of epidemiological variables. In addition, all pairs of tests (excluding the blood culture test) presented as good alternatives for both screening (sensitivity > 99.96% in parallel testing) and for confirmation (specificity > 99.93% in serial testing) of Chagas disease. The prevalence of 13.30% observed in the stratum of donors with inconclusive serology, means that probably most of these are non-reactive serology. In addition, depending on the level of specific epidemiological variables, the absence of infection can be predicted with a probability of 100% in this group from the pairs of tests using parallel testing. CONCLUSION: The epidemiological variables can lead to improved test results and thus assist in the clarification of inconclusive serology screening results. Moreover...

‣ Tattoos on 18-year-old male adolescents - Characteristics and associated factors

Bicca,José Froner; Duquia,Rodrigo Pereira; Breunig,Juliano de Avelar; Souza,Paulo Ricardo Martins de; Almeida Jr,Hiram Larangeira de
Fonte: Sociedade Brasileira de Dermatologia Publicador: Sociedade Brasileira de Dermatologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2013 Português
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BACKGROUND: Prevalence of tattoos is around 10-26% in men and 10-22% in women, and can involve negative effects such as: regret, removal attempts, physical and biological changes of the skin and association with some viral diseases. OBJECTIVE: to determine the prevalence, characteristics and factors associated with tattoos in recruiters joining the military. METHODS: the recruiters were examined by dermatologists that documented the presence or absence of tattoos, as well as their sizes, colors, designs and patterns, and whether they needed a parent's consent to get a tattoo. RESULTS: 1,968 recruiters were examined and the prevalence of tattoos was 10.82% (213), 141 (66.20%) had a single tattoo, 44 (20.66%) two tattoos, 15 (7.04%) three tattoos, 9 (4.23%) four tattoos, and 4 (1.88%) had more than four. Of the total sample, 168 (80.77%) reported getting the first tattoo before the age of 18. 158 (74.53%) were monochromatic. In relation to size, 108 (50.70%) had tattoos of up to 10 cm, 75 (35.21%) had tattoos measuring between 11-20cm, while 30 had ones over 21cm (14.09%). CONCLUSIONS: The population studied had a high prevalence of tattoos for their age, the percentage of complex (large and polychromatic) tattoos was also high.

‣ Etiologic and epidemiologic analysis of hand, foot, and mouth disease in Guangzhou city: a review of 4,753 cases

Zou,Xiao-ni; Zhang,Xiao-zhuang; Wang,Bo; Qiu,Yi-teng
Fonte: Brazilian Society of Infectious Diseases Publicador: Brazilian Society of Infectious Diseases
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/10/2012 Português
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OBJECTIVES: This study aimed to review etiological and epidemiological data for hand, foot, and mouth disease (HFMD) cases that occurred between 2008 and 2010 in Guangzhou City, to help develop and implement precautionary measures applicable for future outbreaks. METHODS: The characteristics of 4,753 HFMD episodes were retrospectively reviewed in 4,636 patients reported between 2008 and 2010 by the Guangdong Women and Children's Hospital, which is the national enterovirus monitoring agent and the designated hospital in China for treating severe HFMD. RESULTS: Out of 4,753 incident episodes reviewed, 525 patients were hospitalized; 60% were males. Most patients (93.8%) were children under 5 years old, with a median age at onset of 2.4 years. HFMD incidence peaked in April/May and September/October. From the total, 1,067 (22.4%) infections were positive for human enterovirus 71 (HEV71), 1,094 (23.0%) were positive for coxsackievirus A16 (CA16), and 941 (19.8%) were positive for other common enteroviruses. In contrast, 1,666 (35.0%) cases were negative to HEV71, CA16, and other common enteroviruses. Cross-correlation coefficients demonstrated associations between the number of cases, seasonal temperatures, and humidity. Among hospitalized cases...

‣ Factors associated with exclusive breastfeeding in the Legal Amazon and Northeast regions, Brazil, 2010

Neves,Alice Cristina Medeiros das; Moura,Erly Catarina; Santos,Wallace; Carvalho,Kênia Mara Baiocchi de
Fonte: Pontifícia Universidade Católica de Campinas Publicador: Pontifícia Universidade Católica de Campinas
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2014 Português
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OBJECTIVE: The objective of this study was to identify the factors associated with exclusive breastfeeding in children aged less than six months from the Brazilian Legal Amazon and Northeast regions. METHODS: The study used data from a survey that assessed prenatal and infant (<1 year) care in 2010. Sociodemographic, prenatal, delivery, and puerperium care factors with p<0.05 in multivariate analysis were associated with exclusive breastfeeding. RESULTS: For both regions, the prevalence of exclusive breastfeeding decreased with age, which was the main variable associated with early weaning. In the Legal Amazon, exclusive breastfeeding prevailed among: mothers aged 35 years or more; mothers living in state capitals; and mothers who breastfed on the first hour of life. In the Northeast, the probability of exclusive breastfeeding was greater for mothers aged 35 years or more. CONCLUSION: The factors associated with exclusive breastfeeding were child's and mother's age in both regions; and residence location and breastfeeding in the first hour of life in the Legal Amazon, suggesting the need of differentiated strategies for the promotion of exclusive breastfeeding.

‣ Clinical and epidemiological characteristics of septic arthritis of the hip, 2006 to 2012, a seven-year review

de Souza Miyahara,Helder; Helito,Camilo Partezani; Oliva,Guilherme Batista; Aita,Paulo César; Croci,Alberto Tesconi; Vicente,José Ricardo Negreiros
Fonte: Faculdade de Medicina / USP Publicador: Faculdade de Medicina / USP
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/07/2014 Português
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OBJECTIVE: To epidemiologically characterize the population treated at our orthopedic clinic with a diagnosis of septic arthritic of the hip between 2006 and 2012. METHODS: Fifteen patients diagnosed with septic arthritis of the hip between 2006 and 2012 were retrospectively evaluated. The patients' clinical and epidemiological characteristics were surveyed; a sensitivity profile relating to the microorganisms that caused the infections and the complications relating to the patients' treatment and evolution were identified. RESULTS: Septic arthritis was more common among males. Most diagnoses were made through positive synovial fluid cultures, after joint drainage was performed using the Smith-Petersen route. Among the comorbidities found, the most prevalent were systemic arterial hypertension, diabetes mellitus, and human immunodeficiency virus. The pathological joint conditions diagnosed prior to joint infection were osteoarthrosis and developmental dysplasia of the hip. The infectious agent most frequently isolated was Staphylococcus aureus. From the clinical and laboratory data investigated, 53.33% of the cases presented with fever, and all except one patient presented with increased measures in inflammation tests. Gram staining was positive in only 26.66% of the synovial fluid samples analyzed. Six patients presented with joint complications after treatment was administered. CONCLUSION: S. aureus is the most common pathogen in acute infections of the hip in our setting. Factors such as clinical comorbidities are associated with septic arthritis of the hip. Because of the relatively small number of patients...

‣ The epidemiological profile of inflammatory bowel disease patients on biologic therapy at a public hospital in Alagoas

Barros,Petrille André Cavalcante de; Silva,Alberson Maylson Ramos da; Lins Neto,M.Á.d.F.
Fonte: Sociedade Brasileira de Coloproctologia Publicador: Sociedade Brasileira de Coloproctologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2014 Português
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Introduction: Inflammatory Bowel Diseases (IBD), represented by Crohn's disease (CD) and ulcerative colitis (UC) are chronic and idiopathic inflammatory conditions involving the gastrointestinal tract. There are several epidemiological studies that have shown an increased incidence of IBD worldwide. Objective: To analyze the epidemiological profile of patients with IBD under biologic therapy, treated in a coloproctology outpatient clinic, Hospital Universitario Professor Alberto Antunes, Alagoas. Methods: Retrospective observational clinical study, conducted by collecting patients' records and interviewing them at the time of follow-up. Results: 40 patients were evaluated: 70% female, 27 patients (67.5%) with CD and 13 (32.5%) with UC, mean age of 37.8 years and predominance of white ethnicity. The ileocolonic area was more frequently affected among patients with CD (33.3%), whereas the extensive colitis presentation predominated among UC patients (61.5%). 95% of the patients received some medication before using biologicals. 70% of the respondents remain in deep remission in the period of 6–60 months. Conclusion: The socioeconomic profile of patients was similar to that described in the literature. Crohn's disease was more frequent in our study...

‣ Profile of trauma victims of motorcycle accidents treated at hospital São Paulo

Miki,Natália; Martimbianco,Ana Luiza Cabrera; Hira,Lúcia Tomomi; Lahoz,Gisele Landim; Fernandes,Hélio Jorge Alvachian; Reis,Fernando Baldy dos
Fonte: Sociedade Brasileira de Ortopedia e Traumatologia Publicador: Sociedade Brasileira de Ortopedia e Traumatologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/08/2014 Português
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OBJECTIVE: To evaluate retrospectively, through analysis of medical records, the epidemiological aspects of patients traumatized by motorcycle accidents treated at the orthopedics ward, Hospital São Paulo, Brazil. METHODS: It is a retrospective observational study. The analysis of patients' medical records comprised the period from January 2008 to December 2009. The data checked were: age, gender, type of collision, type and location of fracture, treatment performed (conservative or surgical), type of surgery, cost of synthesis material and hospitalization, period of hospitalization and postoperative complications. After data collection, statistical analysis was performed. RESULTS: We analyzed 381 victims involved in motorcycle accidents. Patients were predominantly male (85%), with a mean age of 30.7 years old. Referring to distribution and site of lesions, 75.5% of individuals had lower limb fractures and in 95.4% of the cases, the treatment of choice was surgery. Twenty-nine patients were rehospitalized due to postoperative complications, such as exposure and failure of synthesis material, wound infection, necrosis, osteomyelitis, and pseudoarthrosis. CONCLUSION: It was possible to identify useful characteristics for planning preventative strategies to reduce the rate of motorcycle accidents and redirect public investment in health. Level of Evidence III...

‣ American tegumentary leishmaniasis: correlations among immunological, histopathological and clinical parameters

Martins,Ana Luiza Grizzo Peres; Barreto,Jaison Antonio; Lauris,Jose Roberto Pereira; Martins,Ana Claudia Grizzo Peres
Fonte: Sociedade Brasileira de Dermatologia Publicador: Sociedade Brasileira de Dermatologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2014 Português
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BACKGROUND: American tegumentary leishmaniasis has an annual incidence of 1 to 1.5 million cases. In some cases, the patient's immune response can eliminate the parasite, and the lesion spontaneously resolves. However, when this does not occur, patients develop the disseminated form of the disease. OBJECTIVE: To investigate the association between clinical, laboratory and pathological findings in cases of American tegumentary leishmaniasis. METHODS: A retrospective study of the medical records of 47 patients with American cutaneous leishmaniasis. Clinical, laboratory and epidemiological data were collected, and semi-quantitative histopathological analyses were performed using the Spearman correlation coefficient (p <0.05). RESULTS: Mean patient age was 40.5 years. A total of 29.7% individuals were female and 70.2% were male, and 40.4% of the patients were farmers. The ulcerative form was found in 53.2% of patients, of whom 59.6% had lesions in the limbs. The average time to diagnosis was 22.3 months. The following positive correlations were significant: age and duration of the disease, Montenegro reaction, degree of granulomatous transformation and epithelioid cell count; duration of disease, Montenegro reaction and number of lymphocytes; epithelial hyperplasia and edema...

‣ Epidemiological Profile of Leprosy in the Brazilian state of Piauí between 2003 and 2008

Sousa,Manoel Wilkley Gomes de; Silva,Darline Carvalho; Carneiro,Lucianna Rodrigues; Almino,Maria Luisa Brito Ferreira; Costa,Ana Lúcia França da
Fonte: Sociedade Brasileira de Dermatologia Publicador: Sociedade Brasileira de Dermatologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2012 Português
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BACKGROUND: Leprosy is a chronic infectious disease caused by Mycobacterium leprae. It is considered a major public health issue in developing countries. OBJECTIVES: To evaluate the clinical and epidemiological profile of leprosy patients between 2003 and 2008 in the state of Piauí, to analyze detection and prevalence rates in the general population and in the population of children under 15 years of age, and to evaluate the predominant clinical forms. METHODS: Data were obtained from the notifiable diseases database of the State Health Department, Piauí, Brazil. Medical records are retrieved from patients' charts using a specific questionnaire and the collected data is then entered into the database system. RESULTS: Of the 12,238 cases of leprosy reported in this period, 85% represented new cases. The mean overall annual detection rate was 54 cases/100,000 habitants. The rate for children under 15 years of age was 15.3 cases/100,000 habitants. Overall, 52.18% of the patients were male; 64.66% were between 20 and 59 years of age; and 53.53% had the paucibacillary form of leprosy. Nevertheless, in 88.82% of cases of the paucibacillary form of the disease, more than five lesions were present, while in 10.55% of cases of the multibacillary form of the disease...

‣ A regression approach for estimating multiday adverse health effects of PM10 When PM 10 Data are Unavailable

Martin, Michael; Roberts, Steven
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
Português
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The authors propose a regression-based approach for obtaining multiday estimates of the adverse health effects of ambient particulate matter less than 10 microm in diameter (PM(10)) when daily PM(10) time-series data are unavailable. This situation is com

‣ The Question of Nonlinearity in the Dose-Response Relation between Particulate Matter Air Pollution and Mortality: Can Akaike's Information Criterion be Trusted to Take the Right Turn?

Roberts, Steven; Martin, Michael
Fonte: Oxford University Press Publicador: Oxford University Press
Tipo: Artigo de Revista Científica
Português
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The shape of the dose-response relation between particulate matter air pollution and mortality is crucial for public health assessment, and departures of this relation from linearity could have important regulatory consequences. A number of investigators

‣ Applying a moving total mortality count to the cities in the NMMAPS database to estimate the mortality effects of particulate matter air pollution

Roberts, Steven; Martin, Michael
Fonte: Lippincott Williams & Wilkins Publicador: Lippincott Williams & Wilkins
Tipo: Artigo de Revista Científica
Português
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Objectives: To apply a new method for estimating the association between daily ambient particulate matter air pollution (PM) and daily mortality to data from over 100 United States cities contained in the National Morbidity, Mortality, and Air Pollution S

‣ Diabetes and Asthma Case Identification, Validation, and Representativeness When Using Electronic Health Data to Construct Registries for Comparative Effectiveness and Epidemiologic Research

Desai, Jay R.; Wu, Pingsheng; Nichols, Greg A.; Lieu, Tracy A.; O’Connor, Patrick J.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /07/2012 Português
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Advances in health information technology and widespread use of electronic health data offer new opportunities for development of large scale multisite disease-specific patient registries. Such registries use existing data, can be constructed at relatively low cost, include large numbers of patients, and once created can be used to address many issues with a short time between posing a question and obtaining an answer. Potential applications include comparative effectiveness research, public health surveillance, mapping and improving quality of clinical care, and others. This paper describes selected conceptual and practical challenges related to development of multisite diabetes and asthma registries, including development of case definitions, validation of case identification methods, variation in electronic health data sources; representativeness of registry populations, including the impact of attrition. Specific challenges are illustrated with data from actual registries.

‣ Estudi epidemiològic, genètic i clínic del registre de famílies amb càncer de mama i ovari hereditaris de l'hospital de la santa creu i sant pau (1995-2005)

Sanz i Buxó, Judit
Fonte: [Barcelona] : Universitat Autònoma de Barcelona, Publicador: [Barcelona] : Universitat Autònoma de Barcelona,
Tipo: Tesis i dissertacions electròniques; info:eu-repo/semantics/doctoralThesis; info:eu-repo/semantics/publishedVersion Formato: application/pdf
Publicado em //2014 Português
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ANTECEDENTS. L’any 1995, els Serveis d’Oncologia Mèdica i Genètica de l’Hospital de Sant Pau (HSP) inicien l’estudi genètic i clínic del càncer de mama i ovari hereditaris (CMOH) i s’estableix el Registre de famílies CMOH. METODOLOGIA. Estudi observacional descriptiu longitudinal del Registre CMOH, el qual conté informació genètica, socio-demogràfica i epidemiològica de famílies i els seus membres, i dades clinicopatològiques dels casos de càncer de mama (CM) i d’ovari (CO) diagnosticats en les famílies, incloses del 1995 al 2005. RESULTATS. S’han estudiat 357 famílies amb criteris de CMOH (869 membres registrats), 620 i 11 neoplàsies de mama femenina i masculina, respectivament, i 64 d’ovari. Majoritàriament les famílies provenien de Barcelona. Es va identificar una mutació BRCA1/2 en 83 famílies (23%). Els criteris clínics associats a una major identificació de mutació BRCA són el nombre de casos (>=3), la co-presència de CM i CO en les famílies, i l’edat jove al diagnòstic del CM. Principalment les dones amb CM del Registre van néixer a Catalunya i un 60% havien completat estudis secundaris o superiors. Majoritàriament seguien una dieta del tipus mediterrani, fins un terç fumaven i un altre terç consumia vi quotidianament. La informació sobre l’etapa adolescent mostra que tenien una alçada i pes normals...

‣ Factors intrínsecs a l'hoste en la malaltia meningocòccica estudi epidemiològic i clínic /

Baraldés i Farré, Ma. Antònia
Fonte: Bellaterra : Universitat Autònoma de Barcelona, Publicador: Bellaterra : Universitat Autònoma de Barcelona,
Tipo: Tesis i dissertacions electròniques; info:eu-repo/semantics/doctoralThesis Formato: application/pdf; application/pdf
Publicado em //2005 Português
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Consultable des del TDX; Títol obtingut de la portada digitalitzada; FONAMENT: El FcgRIIA és l'únic receptor IgG dels leucòcits capaç d'unir la IgG2, la principal subclasse d'immunoglobulines (Igs) que es genera enfront la infecció per gèrmens encapsulats. Existeixen 2 formes al.lotípiques per a aquest receptor: el FcgRIIA-R131 i el FcgRIIA-H131. Els neutròfils dels individus homozigots FcgRIIA-R/R131 tenen una menor capacitat que els homozigots FcgRIIA-H/H131 per a fagocitar els bacteris encapsulats, incloent el meningococ. Els individus heterozigots tenen una capacitat intermèdia. PACIENTS, MATERIALS I MÈTODES: Estudi cas-control per a determinar si la diferent capacitat fagocítica del FcgRIIA-H/H131 i del FcgRIIA-R/R131 té una repercussió clínica important en pacients amb malaltia meningocòccica (MM) i determinar també si els polimorfismes 308 A/G del TNF (TNF1/TNF2) i 4G/5G del PAI tenen importància en l'evolució i pronòstic de l'MM, tal i com suggereixen alguns autors. Es van analitzar els paràmetres clínics, microbiològics, immunològics i distribució fenotípica dels polimorfismes del FcgRIIA(R/H131), del TNF (TNF1/TNF2) i del PAI-1 (4G/5G), en 145 pacients amb MM microbiològicament comprovada, en comparació amb 290 individus sans randomitzats sense MM. La determinació dels polimorfismes es va realitzar mitjançant tècniques de reacció en cadena de la polimerasa i també es van determinar els nivells de complement i Igs. Es va aplicar una escala pronòstica basada en l'edat...