Genome-wide association study of Tourette Syndrome

Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder

Guía de práctica clínica para la prevención, diagnóstico, tratamiento y rehabilitación de la falla cardiaca en población mayor de 18 años, clasificación B, C y D

La falla cardíaca es un síndrome clínico caracterizado por síntomas y signos típicos de insuficiencia cardíaca, adicional a la evidencia objetiva de una anomalía estructural o funcional del corazón. Guía completa 2016. Guía No. 53Población mayor de 18 añosN/

Practice Guidelines for the prevention, diagnosis, treatment, and rehabilitation of heart failure in a population greater than 18 years-old: B, C and D Classification. Cardiac rehabilitation component

Introducción: Los programas de rehabilitación cardiaca integran la realización de ejercicio supervisado con prevención secundaria y soporte sicosocial que permite mejorar la adherencia a medidas con impacto claro sobre la morbilidad y mortalidad en pacientes con falla cardiaca. Metodología: Para el desarrollo de la guía de práctica clínica basada en la evidencia se siguieron los pasos definidos en la Guía Metodológica para la Elaboración de Guías de Práctica Clínica con Evaluación Económica en el Sistema General de Seguridad Social en Salud Colombiano del Ministerio de Salud y Protección Social de Colombia. Resultados: Se establecen las recomendaciones para el desarrollo adecuado de un programa de rehabilitación cardiaca integral en pacientes con falla cardiaca, abordando aspectos de evaluación de capacidad funcional, efectividad y seguridad del ejercicio, dosificación, modalidad y rehabilitación en pacientes con dispositivos. Conclusión: La práctica de ejercicio en pacientes con falla cardíaca estable ha demostrado disminuir las hospitalizaciones, mejorar la calidad de vida y la capacidad funcional y ser seguro en aquellos a quienes se les ha implantado un dispositivo.Q4Introduction: Cardiac rehabilitation programs combine the performing of supervised exercise with secondary prevention and psycho-social support that helps to improve adherence to measures, with a clear impact on the morbidity and mortality in patients with heart failure. Methodology: For the development of the evidence-based clinical practice guidelines, the steps followed were those defined in the Methodological Guidelines for the Preparation of Clinical Practice Guidelines with an Economic Assessment in the General Social Security System in Colombian Health by the Ministry of Health and Social Protection of Colombia. Results: Recommendations were established for the adequate development of an integrated cardiac rehabilitation program for patients with heart failure. The aspects approached included the assessment of functional capacity, effectivity and safety of the exercise, dosification, methodology, and rehabilitation in patients with devices. Conclusion: The practice of exercise in patients with stable heart has shown to reduce the number of hospital admissions, improve the quality of life and functional capacity. It has also shown to be safe in those that have a device implanted.N/

Clinical Research with Older African Americans and Latinos: Perspectives from the Community

Abstract available at publisher's web site

Redução do nível protéico da dieta, através da formulação baseada em aminoácidos digestíveis Protein levels reduction of broilers in the initial phase

Um experimento foi conduzido para estudar a redução do nível protéico da dieta, através da formulação baseada em aminoácidos digestíveis, de frangos de corte na fase inicial. Foram utilizados 800 pintos machos, Cobb, as quais foram pesados e distribuídos em delineamento inteiramente casualizado, com 4 tratamentos (22%, 20% e 18% PB formuladas com aminoácidos digestíveis e 1 tratamento testemunha com 22% PB e formulada com aminoácidos totais), com 4 repetições de 50 aves cada. Foram avaliados o ganho de peso, consumo de ração e conversão alimentar. Quando as aves foram alimentadas com a dieta referência obtiveram, estatisticamente (P>0,05), o mesmo ganho de peso e conversão alimentar que as aves alimentadas com as dietas contendo 22% PB e formulada com aminoácidos totais e com 20% PB formulada com aminoácidos digestíveis. É possível trabalhar com dietas contendo menor nível protéico (20% PB) sem afetar o desempenho das aves, quando a dieta for formulada com aminoácidos digestíveis.<br>One experiment was conducted to study the reduction of protein level, through formulation based in digestible amino acids, using broilers in the initial phase. Eight hundred one-day-old male chicks, Cobb, were weighted and distributed in a random design, envolving four treatments (22%, 20% and 18% crude protein with digestible aminoacids and one control treatment with 22% crude protein based on total amino acids), envolving 4 replications of 50 birds each. Data from weight gain, feed intake and feed conversion were collected. When broilers were fed control diet, the same weight gain and feed conversion were obtained when compared with birds fed 22% crude protein and total amino acids and 20% crude protein formulated on digestible amino acids. It is possible to work diets with less protein level (20% crude protein) without affecting the performance when diet is formulated based on digestible amino acids