183 research outputs found
Videojugador de pasión y recreador de vocación : revisión de una experiencia de creación de un juego de mesa.
El trabajo de grado "Videojugador de pasión y recreador de vocación: revisión de una experiencia de creación de un juego de mesa" está basado en la experiencia del autor en su condición de gamer y de estudiante de Recreación. A partir de un corto autorretrato y de una revisión general de algunos autores claves, el autor deriva una serie de reflexiones sobre el que hacer del recreador en tanto profesional que piensa el juego y su relación con la educación. Igualmente apela a la experiencia que tuvo como integrante de un equipo de investigación dedicado al diseño de juegos de mesa para evidenciar la manera en que su condición de gamer le permite enriquecer el proceso de diseño de un juego en particular: Batalla de Hormigas - Estrategas. Del trabajo de grado destacó el interés del autor por articular su experiencia como videojugador, con los retos que a la recreación le plantean los nuevos repertorios tecnológicos (y mucho más en los actuales tiempos de pandemia).PregradoPROFESIONAL EN RECREACIÓ
Prevalence and clinical profile of microcephaly in South America pre-Zika, 2005-14: prevalence and case-control study
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Previous issue date: 2017Universidade Federal do Rio de Janeiro, Rio de Janeiro. Instituto de Biologia. Departamento de Genética. Estudo colaborativo latino-americano de malformações congênitas. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil.Ulster University. Institute of Nursing and Health Research. Maternal Fetal and Infant Research Centre. Newtownabbey, Northern Ireland, UK.Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil / ECLAMC at Center for Medical Education and Clinical Research (CEMIC-CONICET). Buenos Aires, Argentina.Universidade Federal do Rio de Janeiro, Rio de Janeiro. Instituto de Biologia. Departamento de Genética. Estudo colaborativo latino-americano de malformações congênitas. Rio de Janeiro, RJ, Brasil / Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil.Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil / ECLAMC at Center for Medical Education and Clinical Research (CEMIC-CONICET). Buenos Aires, Argentina.Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Estudo Colaborativo Latino-americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Estudo Colaborativo Latino-americano de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Genética Médica Populacional. Porto Alegre, RS, Brasil / ECLAMC at Center for Medical Education and Clinical Research (CEMIC-CONICET). Buenos Aires, Argentina.Objective To describe the prevalence and clinical spectrum of microcephaly in South America for the period 2005-14, before the start of the Zika epidemic in 2015, as a baseline for future surveillance as the Zika epidemic spreads and as other infectious causes may emerge in future.Design Prevalence and case-control study.Data sources ECLAMC (Latin American Collaborative Study of Congenital Malformations) database derived from 107 hospitals in 10 South American countries, 2005 to 2014. Data on microcephaly cases, four non-malformed controls per case, and all hospital births (all births for hospital based prevalence, resident within municipality for population based prevalence). For 2010-14, head circumference data were available and compared with Intergrowth charts.Results 552 microcephaly cases were registered, giving a hospital based prevalence of 4.4 (95% confidence interval 4.1 to 4.9) per 10 000 births and a population based prevalence of 3.0 (2.7 to 3.4) per 10 000. Prevalence varied significantly between countries and between regions and hospitals within countries. Thirty two per cent (n=175) of cases were prenatally diagnosed; 29% (n=159) were perinatal deaths. Twenty three per cent (n=128) were associated with a diagnosed genetic syndrome, 34% (n=189) polymalformed without a syndrome diagnosis, 12% (n=65) with associated neural malformations, and 26% (n=145) microcephaly only. In addition, 3.8% (n=21) had a STORCH (syphilis, toxoplasmosis, other including HIV, rubella, cytomegalovirus, and herpes simplex) infection diagnosis and 2.0% (n=11) had consanguineous parents. Head circumference measurements available for 184/235 cases in 2010-14 showed 45% (n=82) more than 3 SD below the mean, 24% (n=44) between 3 SD and 2 SD below the mean, and 32% (n=58) larger than -2 SD.Conclusion Extrapolated to the nearly 7 million annual births in South America, an estimated 2000-2500 microcephaly cases were diagnosed among births each year before the Zika epidemic began in 2015. Clinicians are using more than simple metrics to make microcephaly diagnoses. Endemic infections are important enduring causes of microcephaly
RENAC: National Registry of Congenital Anomalies of Argentina
Introducción. El Registro Nacional de Anomalías Congénitas (RENAC) es un sistema de vigilancia de base hospitalaria de recién nacidos con anomalías congénitas (AC) morfológicas mayores. El objetivo de este trabajo es presentar las características y el funcionamiento operativo del RENAC y la prevalencia al nacer de 56 AC específicas seleccionadas, en comparación con otros registros. Población y métodos. La organización del RENAC se inició en los hospitales públicos con 1000 o más nacimientos anuales o que son cabecera de una región sanitaria. La recolección de datos está a cargo de los neonatólogos y una coordinación centraliza la codificación, los análisis estadísticos y los informes periódicos. Utiliza un foro web para el envío de los datos y para la interacción y orientación en el manejo inicial de los casos. Resultados. Entre el 1 de noviembre de 2009 y el 30 de junio de 2012 se incorporaron 98 hospitales, cuya cobertura anual es del 65% en el sector público y el 35% de los nacimientos del país. En el período se examinaron 294 005 recién nacidos y se detectaron 5165 casos con AC mayores (1,76%; IC 95% 1,71 a 1,80). Las AC más frecuentes fueron las cardiopatías septales (prevalencia por 10 000: 28,6), síndrome de Down (prevalencia por 10 000: 19,2), fisura de labio +/- paladar hendido (prevalencia por 10 000: 12) y el conjunto de los defectos del tubo neural (prevalencia por 10 000: 11,9). Conclusiones. El RENAC ha logrado una alta cobertura en el sector público y las diferencias de prevalencia con otros registros se atribuyen a aspectos operativos o a diferencias reales, según los casos. El RENAC aborda no solo la recolección, análisis y difusión de información sobre AC en la Argentina, sino también contribuye a las intervenciones locales.Introduction.The National Registry of Congenital Anomalies (Registro Nacional de Anomalías Congénitas, RENAC) is a hospital-based surveillance system for newborn infants with major morphological congenital anomalies (CAs). The objective of this study was to describe the characteristics and operation of the RENAC registry and the prevalence at birth of 56 specific selected CAs, compared to other registries. Population and Methods.The organization of the RENAC registry was initiated in public hospitals with 1000 or more births per year or which are the referral hospitals in a determined health region. Neonatologists are in charge of data collection, and a central coordination department is in charge of encoding, statistical analyses and regular reports. The RENAC registry uses an online forum for data submission and for guidance and interaction regarding the initial management of cases. Results. Between November 1st, 2009 and June 30th, 2012, 98 hospitals were included in the registry, the annual coverage of these hospitals is 65% in the public sector and 35% of births in Argentina. In this period, 294 005 newborn infants were examined, and 5165 cases with major CAs were detected (1.76%; 95% CI: 1.71-1.80). The most frequent CAs were septal heart defects (prevalence per 10 000: 28.6), Down’s syndrome (prevalence per 10 000: 19.2), cleft lip +/- palate (prevalence per 10 000: 12), and a set of neural tube defects (prevalence per 10 000: 11.9). Conclusions.The RENAC has reached a high coverage in the public sector and the differences in prevalence with other registries can be related to operational aspects or actual differences, depending on the case. The RENAC deals with the collection, analysis and dissemination of information about CAs in Argentina, and also contributes with local interventions.Fil: Groisman, Boris. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; ArgentinaFil: Bidondo, María Paz. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; ArgentinaFil: Barbero, Pablo. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; ArgentinaFil: Gili, Juan Antonio. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Estudios Médicos e Investigaciones Clínicas; ArgentinaFil: Liascovich, Rosa. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; ArgentinaFil: Lopez Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Estudios Médicos e Investigaciones Clínicas; ArgentinaFil: Grupo de Trabajo RENAC
The Zika Virus Epidemic in Brazil: From Discovery to Future Implications.
The first confirmed case of Zika virus infection in the Americas was reported in Northeast Brazil in May 2015, although phylogenetic studies indicate virus introduction as early as 2013. Zika rapidly spread across Brazil and to more than 50 other countries and territories on the American continent. The Aedesaegypti mosquito is thought to be the principal vector responsible for the widespread transmission of the virus. However, sexual transmission has also been reported. The explosively emerging epidemic has had diverse impacts on population health, coinciding with cases of Guillain-Barré Syndrome and an unexpected epidemic of newborns with microcephaly and other neurological impairments. This led to Brazil declaring a national public health emergency in November 2015, followed by a similar decision by the World Health Organization three months later. While dengue virus serotypes took several decades to spread across Brazil, the Zika virus epidemic diffused within months, extending beyond the area of permanent dengue transmission, which is bound by a climatic barrier in the south and low population density areas in the north. This rapid spread was probably due to a combination of factors, including a massive susceptible population, climatic conditions conducive for the mosquito vector, alternative non-vector transmission, and a highly mobile population. The epidemic has since subsided, but many unanswered questions remain. In this article, we provide an overview of the discovery of Zika virus in Brazil, including its emergence and spread, epidemiological surveillance, vector and non-vector transmission routes, clinical complications, and socio-economic impacts. We discuss gaps in the knowledge and the challenges ahead to anticipate, prevent, and control emerging and re-emerging epidemics of arboviruses in Brazil and worldwide
Association of candidate gene polymorphisms with clinical subtypes of preterm birth in a Latin American population
Background. Preterm birth (PTB) is the leading cause of neonatal mortality and morbidity. PTB is often classified according to clinical presentation: Idiopathic (PTB-I), preterm premature rupture of membranes (PTB-PPROM), and medically induced (PTBM).
The aim of this study was to evaluate the associations between specific candidate genes and clinical subtypes of PTB.
Methods. 24 SNPs were genotyped in 18 candidate genes in 709 infant triads. Of them, 243 were PTB-I, 256 PTB-PPROM, and 210 PTB-M. These data were analyzed with a Family-Based Association.
Results. PTB was nominally associated with rs2272365 in PON1, rs883319 in KCNN3, rs4458044 in CRHR1, and rs610277 in F3. Regarding clinical subtypes analysis, 3 SNPs were associated with PTB-I (rs2272365 in PON1, rs10178458 in COL4A3, and rs4458044 in CRHR1), rs610277 in F3 was associated with PTBPPROM, and rs883319 in KCNN3 and rs610277 in F3 were associated with PTB-M.
Conclusions. Our study identified polymorphisms potentially associated with specific clinical subtypes of PTB in this Latin American population. These results could suggest a specific role of such genes in the mechanisms involved in each clinical subtype. Further studies are required to confirm our results and to determine the role of these genes in the pathophysiology of clinical subtypes
Prevention of Neural Tube Defects: A Cross-Sectional Study of the Uptake of Folic Acid Supplementation in Nearly Half a Million Women
BACKGROUND: Taking folic acid supplements before pregnancy to reduce the risk of a neural tube defect (NTD) is especially important in countries without universal folic acid fortification. The extent of folic acid supplementation among women who had antenatal screening for Down's syndrome and NTDs at the Wolfson Institute of Preventive Medicine, London between 1999 and 2012 was assessed. METHODS AND FINDINGS: 466,860 women screened provided details on folic acid supplementation. The proportion of women who took folic acid supplements before pregnancy was determined according to year and characteristics of the women. The proportion of women taking folic acid supplements before pregnancy declined from 35% (95% CI 34%-35%) in 1999-2001 to 31% (30%-31%) in 2011-2012. 6% (5%-6%) of women aged under 20 took folic acid supplements before pregnancy compared with 40% of women aged between 35 and 39. Non-Caucasian women were less likely to take folic acid supplements before pregnancy than Caucasian women; Afro-Caribbean 17% (16%-17%), Oriental 25% (24%-25%) and South Asian 20% (20%-21%) compared with 35% (35%-35%) for Caucasian women. 51% (48%-55%) of women who previously had an NTD pregnancy took folic acid supplements before the current pregnancy. CONCLUSIONS: The policy of folic acid supplementation is failing and has led to health inequalities. This study demonstrates the need to fortify flour and other cereal grain with folic acid in all countries of the world
Women Are More Susceptible to Caries but Individuals Born with Clefts Are Not
The identification of individuals at a higher risk of developing caries is of great interest. Isolated forms of cleft lip and palate are among the most common craniofacial congenital anomalies in humans. Historically, several reports suggest that individuals born with clefts have a higher risk for caries. Caries continues to be the most common infectious noncontagious disease worldwide and a great burden to any health system. The identification of individuals of higher susceptibility to caries is of great interest. In this paper, we assessed caries experience of 1,593 individuals from three distinct populations. The study included individuals born with clefts, their unaffected relatives, and unrelated unaffected controls that were recruited from areas with similar cultural pressures and limited access to dental care. DMFT/dmft scores were obtained, and caries experience rates were compared among the three groups in each geographic area. Individuals born with clefts did not present higher caries experience in comparison to their unaffected relatives or unrelated unaffected controls. Women tend to present higher caries rates in comparison to men. Our work provides strong evidence that individuals born with clefts are not at higher risk to caries; however, women tend to have more severe caries experience
Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs
Background: Esophageal atresia (EA) affects around 2.3–2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions. Methods: We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s–2010s. Results: We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1–90.5) at 1-month, 84.5% (95% CI 83.0–85.9) at 1-year and 82.7% (95% CI 81.2–84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies. Conclusions: Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies
Detection of Streptococcus mutans Genomic DNA in Human DNA Samples Extracted from Saliva and Blood
Caries is a multifactorial disease, and studies aiming to unravel the factors modulating its etiology must consider all known predisposing factors. One major factor is bacterial colonization, and Streptococcus mutans is the main microorganism associated with the initiation of the disease. In our studies, we have access to DNA samples extracted from human saliva and blood. In this report, we tested a real-time PCR assay developed to detect copies of genomic DNA from Streptococcus mutans in 1,424 DNA samples from humans. Our results suggest that we can determine the presence of genomic DNA copies of Streptococcus mutans in both DNA samples from caries-free and caries-affected individuals. However, we were not able to detect the presence of genomic DNA copies of Streptococcus mutans in any DNA samples extracted from peripheral blood, which suggests the assay may not be sensitive enough for this goal. Values of the threshold cycle of the real-time PCR reaction correlate with higher levels of caries experience in children, but this correlation could not be detected for adults
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