Genomewide Linkage Scan of 409 European-ancestry and African American Families with Schizophrenia: Suggestive Evidence of Linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the Combined Sample

We report the clinical characteristics of a schizophrenia sample of 409 pedigrees-263 of European ancestry ( EA) and 146 of African American ancestry ( AA)-together with the results of a genome scan ( with a simple tandem repeat polymorphism interval of 9 cM) and follow-up fine mapping. A family was required to have a proband with schizophrenia ( SZ) and one or more siblings of the proband with SZ or schizoaffective disorder. Linkage analyses included 403 independent full-sibling affected sibling pairs ( ASPs) ( 279 EA and 124 AA) and 100 all-possible half-sibling ASPs ( 15 EA and 85 AA). Nonparametric multipoint linkage analysis of all families detected two regions with suggestive evidence of linkage at 8p23.3-q12 and 11p11.2-q22.3 ( empirical Z likelihood-ratio score [ Z(lr)] threshold >= 2.65) and, in exploratory analyses, two other regions at 4p16.1-p15.32 in AA families and at 5p14.3-q11.2 in EA families. The most significant linkage peak was in chromosome 8p; its signal was mainly driven by the EA families. Z(lr) scores >= 2.0 in 8p were observed from 30.7 cM to 61.7 cM ( Center for Inherited Disease Research map locations). The maximum evidence in the full sample was a multipoint Z(lr) of 3.25 ( equivalent Kong-Cox LOD of 2.30) near D8S1771 ( at 52 cM); there appeared to be two peaks, both telomeric to neuregulin 1 ( NRG1). There is a paracentric inversion common in EA individuals within this region, the effect of which on the linkage evidence remains unknown in this and in other previously analyzed samples. Fine mapping of 8p did not significantly alter the significance or length of the peak. We also performed fine mapping of 4p16.3-p15.2, 5p15.2-q13.3, 10p15.3-p14, 10q25.3-q26.3, and 11p13-q23.3. The highest increase in Z(lr) scores was observed for 5p14.1-q12.1, where the maximum Z(lr) increased from 2.77 initially to 3.80 after fine mapping in the EA families.

Participants who left a multiple-wave cohort study had similar baseline characteristics to participants who returned

PURPOSE: Research on determinants of an individual's pattern of response, considered as a profile across time, for cohort studies with multiple waves is limited. In this prospective population-based pregnancy cohort, we investigated baseline characteristics of participants after partitioning them according to their history of response to different interview waves. METHODS: Data are from the Mater-University of Queensland Study of Pregnancy 1981 to 1983 cohort, Brisbane, Australia. Complete baseline information was collected for 7223 of 7535 eligible individuals (95.9%). Follow-up occurred at 6 months, 5 years, and 14 years. Response rates were 93.0%, 72.5%, and 71.8%. Participants were allowed to leave and reenter the study. Participants were categorized as always, intermittent, or never responders. Intermittent responders were categorized further as leavers (responded at least once before leaving the study) or returners (left the study before reentering). RESULTS: Participants who always responded were older, more educated, married, Caucasian, and nonsmokers and had higher incomes. Intermittent responders shared similar baseline characteristics. Relative risk for being an intermittent responder was located between risks for always or never responding. CONCLUSIONS: Participants who left and reentered the study had baseline characteristics similar to participants who responded at least once and then left the study.

Assessing the quality of risk factor survey data: lessons from the WHO MONICA Project

Background and purpose Survey data quality is a combination of the representativeness of the sample, the accuracy and precision of measurements, data processing and management with several subcomponents in each. The purpose of this paper is to show how, in the final risk factor surveys of the WHO MONICA Project, information on data quality were obtained, quantified, and used in the analysis. Methods and results In the WHO MONICA (Multinational MONItoring of trends and determinants in CArdiovascular disease) Project, the information about the data quality components was documented in retrospective quality assessment reports. On the basis of the documented information and the survey data, the quality of each data component was assessed and summarized using quality scores. The quality scores were used in sensitivity testing of the results both by excluding populations with low quality scores and by weighting the data by its quality scores. Conclusions Detailed documentation of all survey procedures with standardized protocols, training, and quality control are steps towards optimizing data quality. Quantifying data quality is a further step. Methods used in the WHO MONICA Project could be adopted to improve quality in other health surveys.

Referência e contra referência em saúde bucal: regulação do acesso aos centros de especialidades odontológicas

Objective Based on the system of reference and counter-reference and comprehensiveness in oral health care, we aimed to examine ways of refering users to Specialized Dental Care Centers (SDCC) and the interface between them and Primary Care. Methods This is a cross-sectional study carried out with users and dentists of SDCC in a metropolitan region of Northeast of Brazil. Analyses were descriptive, and the association test was done with chi-square. Results Six forms of entry to specialized service were identified: free demand (13.8 %) and reference by the Primary Care dentist (63.2 %) were most frequent. Users referred by the basic health unit dentist had more interest in making a counter-reference than the others (p<0.001, PR=4.65, 95 % CI: 2.74 to 7.91), while individuals without this referral had 1.49 times more difficulty obtaining care (95 % CI: 1.02 to 2.17). Referral procedures are a decisive factor for counter-references. However, the high demand for primary care services and the short supply these services can offer in the face of needs make SDCC performance difficult. Conclusion The analysis of oral health practices from the perspective of network modeling points to the service's need to establish protocols for regulation in a bid to improve access to and the quality of care provided.

Referência e contra referência em saúde bucal: regulação do acesso aos centros de especialidades odontológicas

Objective Based on the system of reference and counter-reference and comprehensiveness in oral health care, we aimed to examine ways of refering users to Specialized Dental Care Centers (SDCC) and the interface between them and Primary Care. Methods This is a cross-sectional study carried out with users and dentists of SDCC in a metropolitan region of Northeast of Brazil. Analyses were descriptive, and the association test was done with chi-square. Results Six forms of entry to specialized service were identified: free demand (13.8 %) and reference by the Primary Care dentist (63.2 %) were most frequent. Users referred by the basic health unit dentist had more interest in making a counter-reference than the others (p<0.001, PR=4.65, 95 % CI: 2.74 to 7.91), while individuals without this referral had 1.49 times more difficulty obtaining care (95 % CI: 1.02 to 2.17). Referral procedures are a decisive factor for counter-references. However, the high demand for primary care services and the short supply these services can offer in the face of needs make SDCC performance difficult. Conclusion The analysis of oral health practices from the perspective of network modeling points to the service's need to establish protocols for regulation in a bid to improve access to and the quality of care provided.

Levantamentos epidemiológicos em saúde bucal: análise da metodologia proposta pela Organização Mundial da Saúde

Epidemiological surveys are important for obtaining information on the prevalence and etiology of mouth diseases, since the data collected permit health actions to be planned, performed, and assessed. Methodological uniformity is necessary, however, to maintain reproductibility, validity, and reliability, and to allow national and international comparisons. The initiative of the World Health Organization (WHO) as an advisor in ongoing surveys has been extremely useful, stimulating standardization in all countries. In 1991, a Portuguese version of the 1987 third edition of Oral Health Surveys - basic methods, an instruction manual for performing epidemiological surveys, was published and became a reference for many parts of Brazil and the World. The present analysis found conflicting points in relation to the sample size, calibration of the examiners, and criteria for evaluating oral health and treatment needs. In conclusion, due to the dynamic characteristics of scientific knowledge and, considering the regional differences in relation to the development of oral diseases, we recommend that proposals for standardizing surveys be checked periodically. Other important issues may have not been detected in this analysis, urging a thorough discussion within the dentistry community as a whole.

Levantamentos epidemiológicos em saúde bucal: análise da metodologia proposta pela Organização Mundial da Saúde

Epidemiological surveys are important for obtaining information on the prevalence and etiology of mouth diseases, since the data collected permit health actions to be planned, performed, and assessed. Methodological uniformity is necessary, however, to maintain reproductibility, validity, and reliability, and to allow national and international comparisons. The initiative of the World Health Organization (WHO) as an advisor in ongoing surveys has been extremely useful, stimulating standardization in all countries. In 1991, a Portuguese version of the 1987 third edition of Oral Health Surveys - basic methods, an instruction manual for performing epidemiological surveys, was published and became a reference for many parts of Brazil and the World. The present analysis found conflicting points in relation to the sample size, calibration of the examiners, and criteria for evaluating oral health and treatment needs. In conclusion, due to the dynamic characteristics of scientific knowledge and, considering the regional differences in relation to the development of oral diseases, we recommend that proposals for standardizing surveys be checked periodically. Other important issues may have not been detected in this analysis, urging a thorough discussion within the dentistry community as a whole.

Three Essays on the Effects of Donor Supplied Contraceptives on Fertility, Usage, and Attitudes

After the 2012 London Summit on Family Planning, there have been major strides in advancing the family planning agenda for low and middle-income countries worldwide. Much of the existing infrastructure and funding for family planning access is in the form of supplying free contraceptives to countries. While the average yearly value of donations since 2000 was over 170 million dollars for contraceptives procured for developing countries, an ongoing debate in the empirical literature is whether increases in contraceptive access and supply drive declines in fertility (UNFPA 2014).

This dissertation explores the fertility and behavioral effects of an increase in contraceptive supply donated to Zambia. Zambia, a high-fertility developing country, receives over 80 percent of its contraceptives from multilateral donors and aid agencies. Most contraceptives are donated and provided to women for free at government clinics (DELIVER 2015). I chose Zambia as a case study to measure the relationship between contraceptive supply and fertility because of two donor-driven events that led to an increase in both the quantity and frequency of contraceptives starting in 2008 (UNFPA 2014). Donations increased because donors and the Zambian government started a systematic method of forecasting contraceptive need on December 2007, and the Mexico City Policy was lifted in January 2009.

In Chapter 1, I investigate whether a large change in quantity and frequency of donated contraceptives affected fertility, using available data on contraceptive donations to Zambia, and birth records from the 2007 and 2013 Demographic and Health Surveys. I use a difference-in-difference framework to estimate the fertility effects of a supply chain improvement program that started in 2011, and was designed to ensure more regularity of contraceptive supply. The increase in total contraceptive supply after the Mexico City Policy was rescinded is associated with a 12 percent reduction in fertility relative to the before period, after controlling for demographic characteristics and time controls. There is evidence that a supply chain improvement program led to significant fertility declines for regions that received the program after the Mexico City Policy was rescinded.

In Chapter 2, I explore the effects of the large increase in donated contraceptives on modern contraceptive uptake. According to the 2007 and 2013 Demographic and Health Surveys, there was a dramatic increase in current use of injectables, implants, and IUDs. Simultaneously, declines occurred in usage of condoms, lactational amenorrhea method (LAM), and traditional methods. In this chapter, I estimate the effect of the increase in donations on uptake, composition of contraceptive usage, and usage of methods based on distance to contraceptive access points. The results show the post-2007 period is associated with an increase in usage of injectables and the pill among women living further away from access points.

In Chapter 3, I explore attitudes towards the contraceptive supply system, and identify areas for improvement, based on qualitative interviews with 14 experts and 61 Zambian users and non-users of contraceptives. The interviews uncover systemic barriers that prevent women from consistently accessing methods, and individual barriers that exacerbate the deficiencies in supply chain procedures. I find that 39 out of 61 women interviewed, both users and non-users, had personal experiences with stock out. The qualitative results suggest that the increase in contraceptives brought to the country after 2007 may have not contributed to as large of a decline in fertility because of bottlenecks in the supply chain, and problems in maintaining stock levels at clinics. I end the chapter with a series of four recommendations for improvements in the supply chain going forward, in light of recent commitments by the Zambian government during the 2012 London Summit on Family Planning.

The epidemiology, healthcare and societal burden and costs of asthma in the UK and its member nations: analyses of standalone and linked national databases

Background: There are a lack of reliable data on the epidemiology and associated burden and costs of asthma. We sought to provide the first UK-wide estimates of the epidemiology, healthcare utilisation and costs of asthma. 

Methods: We obtained and analysed asthma-relevant data from 27 datasets: these comprised national health surveys for 2010-11, and routine administrative, health and social care datasets for 2011-12; 2011-12 costs were estimated in pounds sterling using economic modelling. 

Results: The prevalence of asthma depended on the definition and data source used. The UK lifetime prevalence of patient-reported symptoms suggestive of asthma was 29.5 % (95 % CI, 27.7-31.3; n = 18.5 million (m) people) and 15.6 % (14.3-16.9, n = 9.8 m) for patient-reported clinician-diagnosed asthma. The annual prevalence of patient-reported clinician-diagnosed-and-treated asthma was 9.6 % (8.9-10.3, n = 6.0 m) and of clinician-reported, diagnosed-and-treated asthma 5.7 % (5.7-5.7; n = 3.6 m). Asthma resulted in at least 6.3 m primary care consultations, 93,000 hospital in-patient episodes, 1800 intensive-care unit episodes and 36,800 disability living allowance claims. The costs of asthma were estimated at least £1.1 billion: 74 % of these costs were for provision of primary care services (60 % prescribing, 14 % consultations), 13 % for disability claims, and 12 % for hospital care. There were 1160 asthma deaths. 

Conclusions: Asthma is very common and is responsible for considerable morbidity, healthcare utilisation and financial costs to the UK public sector. Greater policy focus on primary care provision is needed to reduce the risk of asthma exacerbations, hospitalisations and deaths, and reduce costs.

Sugar reduction: from evidence into action

This document brings together the international evidence on interventions to help reduce the nation’s sugar consumption, as requested by the Department of Health. It contains options including further regulation of promotions, restrictions on the marketing of high sugar products, the impact of fiscal measures and a voluntary reformulation programme. This is the first time the evidence on the subject has been collated and assessed.

Quantifying Selection Bias from Birth History Estimates of Child Mortality

Thesis (Master's)--University of Washington, 2016-08

Em Casa Observamos Saúde (ECOS) por telefone e via eletrónica: resultados da implementação da 1ª vaga de 2016

Em 2016 o inquérito ECOS foi implementado, através de entrevista telefónica assistida por computador, à semelhança de vagas anteriores, e ainda por via eletrónica. O questionário foi respondido por um elemento com 18 ou mais anos residente na unidade de alojamento, que prestou informação sobre a sua saúde e dos restantes elementos do agregado (por proxy). No total obtiveram-se 803 entrevistas concluídas e uma taxa de participação global de 79,9%. Considerando os contactos realizados via telefónica, a taxa de participação foi de 77,4% e de 26,5% por via web. Em ambas as vias, a maioria dos respondentes era do sexo feminino, encontrando-se a maior frequência de respondentes por telefone no grupo etário 60-69 e via web no grupo 40-49. As taxas de resposta obtidas em 2016 foram semelhantes às obtidas em outras vagas do ECOS por via telefónica (aproximadamente 80% vs 79 a 86%), e na via web foi superior às obtidas em estudos similares. O perfil dos respondentes em cada uma das vias foi consistente com o observado em estudos que utilizaram estas metodologias, nomeadamente, uma maior frequência de respondentes do sexo feminino e uma maior adesão à via web dos grupos etários mais novos.

Association of type of birth attendant and place of delivery on infant mortality in sub-Saharan Africa.

Objective: To examine the association between type of birth attendant and place of delivery, and infant mortality (IM). Methods: This cross-sectional study used self-reported data from the Demographic Health Surveys for women in Ghana, Kenya, and Sierra Leone. Logistic regression estimated odds ratios (ORs) and95% confidence intervals. Results: In Ghana and Sierra Leone, odds of IM were higher for women who delivered at a health facility versus women who delivered at a household residence (OR=3.18, 95% confidence interval, CI: 1.29-7.83, p=0.01 and OR=1.62, 95% CI: 1.15-2.28, p=0.01, respectively). Compared to the use of health professionals, the use of birth attendants for assistance with delivery was not significantly associated with IM for women in Ghana or Sierra Leone (OR=2.17, 95% CI: 0.83-5.69, p=0.12 and OR=1.25, 95% CI: 0.92-1.70, p=0.15, respectively). In Kenya, odds of IM, though nonsignificant, were lower for women who used birth attendants than those who used health professionals to assist with delivery (OR=0.85, 95% CI: 0.51-1.41, p=0.46), and higher with delivery at a health facility versus a household residence (OR=1.29, 95% CI: 0.81-2.03, p=0.28). Conclusions: Women in Ghana and Sierra Leone who delivered at a health facility had statistically significant increased odds of IM. Birth attendant type-IM associations were not statistically significant.Future research should consider culturally-sensitive interventions to improve maternal health and help reduce IM.

Factores asociados a embarazo no deseado en mujeres en edad reproductiva en Colombia 2010

Objetivo: Identificar factores sociodemográficos y de fecundidad, asociados a ocurrencia de embarazo no deseado en mujeres colombianas en edad reproductiva en el año 2010. Métodos: Se realizó estudio retrospectivo de corte transversal, basado en los datos de la ENDS Colombia-2010, del total de mujeres en edad fértil (13-49 años) que al momento de la encuesta se encontraban en embarazo. La variable de interés fue embarazo no deseado, se describió la población a estudio y se evaluó la posible asociación con variables sociodemográficas y de fecundidad, a través de análisis bivariado y multivariado. Se realizaron los mismos análisis por grupo de edad (adolescentes vs adultas). Resultados: La prevalencia de embarazo no deseado en las mujeres colombianas en el 2010 fue de 61,4 %. De acuerdo al modelo de regresión logística, no estar en unión a una pareja (OR: 4,01 IC95%: 3,066-5,269), tener hijos (OR: 2,040 IC95%: 1,581 – 2,631), estar en el quintil de menor riqueza (OR: 2,137 IC95%: 1,328-3,440), y ser adolescente (OR: 1,599 IC95%: 1,183-2,162), son factores que aumentan la probabilidad de tener un embarazo no deseado. Se encontraron diferencias en los factores asociados al realizar segmentación por edad. Conclusiones: La prevalencia de embarazo no deseado permanece alta en Colombia respecto a años anteriores y a otros países. Los resultados pueden ser de utilidad para el desarrollo de políticas en salud sexual y reproductiva teniendo en cuenta los factores asociados identificados priorizando a la población adolescente y de menor estatus socioeconómico, para la prevención de embarazo no deseado en Colombia.