A ação dos polimorfismos de nucleotídeo único (SNPS) sobre o gene FTO, sua relevância e influência na obesidade: levantamento cienciométrico / The action of single nucleotide polymorphisms (snps) on the fto gene, its relevance and influence on obesity: scientometric survey

A obesidade é caracterizada pelo aumento excessivo da gordura corporal e está ligada ao estilo de vida, ao meio ambiente e a genética do indivíduo. O equilíbrio entre ingestão e gasto energético é controlado por mecanismos neurais, hormonais, químicos e genéticos. Estudos sugerem que o gene FTO (Fat mass and obesity associated) atua como regulador primário do acúmulo de gordura corporal, quando associado a SNPs (Single Nucleotide Polymorphism) específicos, predispõe à obesidade. O propósito deste trabalho foi verificar a produção científica, analisar e catalogar os estudos de polimorfismos no gene FTO associados à obesidade e suas comorbidades. A busca por publicações entre 2009 e 2018 foi realizada na base de dados SciELO com a palavra-chave "FTO". Foram encontrados 23 artigos originais dentro dos critérios da pesquisa que correlacionam o FTO à obesidade. O nome do autor principal, país, idioma, ano de publicação, título, objetivo, polimorfismo associado e os resultados dos estudos foram extraídos e organizados para facilitar a tabulação dos dados. Também foram pesquisados os números de citações de cada artigo, utilizando-se a plataforma Google Acadêmico. Embora o Brasil se encontre em primeiro lugar em produção científica para o gene FTO na base de dados prospectada, o número de artigos originais ainda é muito modesto. Assim, os resultados encontrados podem servir de subsídio no delineamento de novas pesquisas sobre os polimorfismos do gene FTO e as causas da obesidade.

Obesity is characterized by the excessive increase in body fat and is correlated to the lifestyle, environment, and also to the genetics of the individual. The balance between energy intake and expenditure is controlled by neural, hormonal, chemical, and genetic mechanisms. Studies suggest that the FTO (fat mass and obesity associated), a gene associated with fat mass, plays a role as a primary regulator of body fat buildup, when associated to specific Single Nucleotide Polymorphisms (SNPs), causing predisposition to obesity. This paper aimed at reviewing, analyzing, and cataloguing the studies on FTO gene polymorphisms associated with obesity and its comorbidities. The search was carried out in SciELO database, checking articles published between 2009 and 2018 using the keyword "FTO". Twenty-three original articles, matching the research criteria, correlating FTO either positively or negatively with obesity, were found. The main author's name, country, language, year of publication, title, objective, associated polymorphism, and the study results were extracted and organized to facilitate data tabulation. The citation numbers for each article were also searched by using the Google Scholar platform. Although Brazil ranks first in scientific production on the FTO gene in the surveyed database, the number of original articles is still very modest. Therefore, the results found in this paper may be used as a basis for the design of new research on the FTO gene polymorphisms and the causes of obesity.

Asociación entre el polimorfismo rs9939609 del gen FTO con la ingesta energética, macronutrientes y consumo de alcohol en población chilena / Association of the FTO (rs9939609) genotype with energy intake

Background: Fat-mass-associated-gene (FTO) is associated with higher energy intake and specific food preferences. Aim: To investigate the association of the FTO genotype with energy intake, macronutrient and alcohol consumption. Material and Methods: Four hundred and nine participants of the GENADIO (Genes, Environment, Diabetes and Obesity) study were included. Energy intake, macronutrient and alcohol consumption were the outcomes of interest. The association of FTO (rs9939609) genotype with these outcomes was investigated using linear regression analyses, adjusting for confounding variables. Results: After adjusting for socio-demographic factors, being a carrier of the risk allele for the FTO gene was associated with a higher energy intake (173 kcal per each extra copy of the risk variant [95% confidence intervals (CI): 45; 301], (P = 0.008). After adjusting for lifestyle factors and body mass index, the association was slightly attenuated but remained significant (144 kcal [95% CI: 14; 274], p = 0.030). Conclusions: The FTO genotype is associated with a higher energy intake.

Reabilitação da deglutição em pacientes traqueostomizados disfágicos sob ventilação mecânica em unidades de terapia intensiva: um estudo de factibilidade / Swallowing rehabilitation of dysphagic tracheostomized patients under mechanical ventilation in intensive care units: a feasibility study

Objetivo: Avaliar a factibilidade da implantação precoce de um programa de reabilitação da deglutição em pacientes traqueostomizados com disfagia e sob ventilação mecânica. Métodos: Estudo prospectivo realizado em unidades de terapia intensiva de um hospital universitário. Incluímos pacientes hemodinamicamente estáveis e submetidos à ventilação mecânica por pelo menos 48 horas e há no mínimo 48 horas com traqueostomia e nível adequado de consciência. Os critérios de exclusão foram cirurgia prévia na cavidade oral, faringe, laringe e/ou esôfago, presença de doenças degenerativas ou história pregressa de disfagia orofaríngea. Todos os pacientes foram submetidos a um programa de reabilitação da deglutição. Antes e após o tratamento de reabilitação da deglutição, foram determinados um escore estrutural orofaríngeo, um escore funcional de deglutição, e um escore otorrinolaringológico estrutural e funcional. Resultados: Foram incluídos 14 pacientes. A duração média do programa de reabilitação foi de 12,4 ± 9,4 dias, com média de 5,0 ± 5,2 dias sob ventilação mecânica. Onze pacientes puderam receber alimentação por via oral enquanto ainda permaneciam na unidade de terapia intensiva após 4 (2 - 13) dias de tratamento. Todos os escores apresentaram melhora significante após o tratamento. Conclusão: Neste pequeno grupo de pacientes, a implantação de um programa precoce de reabilitação da deglutição foi factível, mesmo em pacientes sob ventilação mecânica. .

Objective: The aim of the present study was to assess the feasibility of the early implementation of a swallowing rehabilitation program in tracheostomized patients under mechanical ventilation with dysphagia. Methods: This prospective study was conducted in the intensive care units of a university hospital. We included hemodynamically stable patients under mechanical ventilation for at least 48 hours following 48 hours of tracheostomy and with an appropriate level of consciousness. The exclusion criteria were previous surgery in the oral cavity, pharynx, larynx and/or esophagus, the presence of degenerative diseases or a past history of oropharyngeal dysphagia. All patients were submitted to a swallowing rehabilitation program. An oropharyngeal structural score, a swallowing functional score and an otorhinolaryngological structural and functional score were determined before and after swallowing therapy. Results: We included 14 patients. The mean duration of the rehabilitation program was 12.4 ± 9.4 days, with 5.0 ± 5.2 days under mechanical ventilation. Eleven patients could receive oral feeding while still in the intensive care unit after 4 (2 - 13) days of therapy. All scores significantly improved after therapy. Conclusion: In this small group of patients, we demonstrated that the early implementation of a swallowing rehabilitation program is feasible even in patients under mechanical ventilation. .

Influencia del mérito genético para la producción de leche en un hato holstein sobre el balance energético, indicadores del metabolismo energético y la reactivación ovárica posparto / Influence of genetic merit for milk production of a holstein herd, on energy balance, metabolic profiles and the postpartum ovarian resumption

El propósito de este trabajo fue determinar la influencia del mérito genético para la producción de leche sobre el balance energético, los indicadores del metabolismo energético y la reactivación ovárica posparto. Para este estudio, se utilizaron 10 vacas Holstein puras de diferente mérito genético para la producción de leche, que se alimentan bajo un sistema de pastoreo rotacional con suplementación de concentrado. A estos animales se les realizó un seguimiento durante los 10.4 (± 2.5), 21.6 (± 4.3), 31.8(± 4.5), 42.3 (± 4.2), y 51.9 (± 3.9) días posparto, los cuales constituyeron los periodos de muestreo. En cada muestreo, los animales fueron pesados con cinta métrica, se les evaluó la con se estimó su balance de energía. Además, se tomaron muestras de suero sanguíneo para evaluar las concentraciones de glucosa y colesterol; y se efectuó un seguimiento de la reactivación ovárica por ultrasonografía. La mayoría de las vacas reiniciaron su actividad ovárica en la segunda semana posparto y más de la mitad presentaron su primera ovulación durante el periodo experimental. Se encontró una relación estadísticamente significativa (p<0.05) y con pendiente negativa entre el mérito genético para la producción de leche y la magnitud del nadir del BEN, sin embargo el mérito genético no tuvo influencia significativa sobre los días al nadir del BEN, dado que las vacas de mérito genético alto, como bajo incrementaron el consumo y la producción de leche siguiendo patrones similares, pero con magnitudes diferentes. De igual forma el merito genético no se relacionó significativamente con los días a la primera ovulación. Además, ninguna de las variables del balance de energía, ni los metabolitos sanguíneos afectaron los días a la primera ovulación o el número de folículos clasificados por tamaño.

The aim of this research was to establish the genetic merit for milk yield influence on energy balance, energy metabolic profiles and the postpartum ovarian resumption. In this research, 10 pure-Holstein Friesian dairy cows, varying in genetic merit values for milk yield and fed on a rotational-grazing system with a supplementary concentrate ration were used. A serial of examinations were performed on10.4 (± 2.5), 21.6 (± 4.3), 31.8 (± 4.5), 42.3 (± 4.2), and 51.9 (± 3.9) postpartum days. In every sampling day animals were weighed by tape measure, their body condition score were calculated and the energy balance was estimated for every cow. In addition, blood serum tests were performed to analyze glucose and cholesterol blood concentration and an ultrasonographic assessment was executed to determine ovarian resumption. Nearly all cows had an ovarian resumption on the second week postpartum and more than a half had shown their first postpartum ovulation on the trial period. The genetic merit values for milk yield were not related with production values, therefore, the dependent variables of milk yield did not fluctuated with genetic merit. There was a significant negative relationship (p<0.05) between genetic merit for milk production and the nadir extent of net energy balance (NEB). Although, the genetic merit did not have significant influence on the number of days between calving to the nadir-attaining day, because high genetic merit cows as low genetic merit cows increased the intake and milk yield following similar patterns, but with different extents. In the same way, the genetic merit did not have significant relationship with the interval of calving to first ovulation. Furthermore, no one of the energy balance variables or blood metabolites influenced the interval of calving to first ovulation or the amount of follicles classified by size.

Genetics of efficient feed utilization and national cattle evaluation: a review

Selection for the wide range of traits for which most beef breed associations calculate expected progeny differences focus on increasing the outputs of the production system, thereby increasing the genetic potential of cattle for reproductive rates, weights, growth rates, and end-product yield. Feed costs, however, represent a large proportion of the variable cost of beef production and genetic improvement programs for reducing input costs should include traits related to feed utilization. Feed conversion ratio, defined as feed inputs per unit output, is a traditional measure of efficiency that has significant phenotypic and genetic correlations with feed intake, growth rate, and mature size. One limitation is that favorable decreases in feed to gain either directly or due to correlated response to increasing growth rate do not necessarily relate to improvement in efficiency of feed utilization. Residual feed intake is defined as the difference between actual feed intake and that predicted on the basis of requirements for maintenance of body weight and production. Phenotypic independence of residual feed intake with growth rate, body weight, and other energy depots can be forced. However, genetic associations may remain when a phenotypic prediction approach is used. Heritability estimates for phenotypic residual feed intake have been moderate, ranging from 0.26 to 0.43. Genetic correlations of phenotypic residual feed intake with feed intake have been large and positive, suggesting that improvement would produce a correlated response of decreased feed intake. Residual feed intake estimated by genetic regression results in a zero genetic correlation with its predictors, which reduces concerns over long-term antagonistic responses such as increased mature size and maintenance requirements. The genetic regression approach requires knowledge of genetic covariances of feed intake with weight and production traits. Cost of individual feed intake measurements on pot...