Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVE: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare

Caracterização química do autolisado de levedura de alambique e avaliação da aceitabilidade do pão de queijo adicionado do autolisado desidratado Chemical characterization of yeast autolysate and assessment of the acceptability of cheese buns containing dried autolysate

OBJETIVO: Esta pesquisa tem como objetivo estudar as propriedades do autolisado de levedura (Saccharomyces cerevisiae) proveniente de cachaça de alambique, investigando a composição centesimal, o perfil acídico e a análise microbiológica do material, bem como realizar análise sensorial do pão de queijo adicionado com o autolisado desidratado. MÉTODOS: O autolisado foi obtido pela lavagem e autólise da biomassa. A secagem foi realizada em secador de bandeja na temperatura de 70ºC. Realizaram-se as seguintes análises: caracterização físico-química (teor lipídico, proteico, fibras totais, fibras solúveis e insolúveis, e cinzas); composição de aminoácidos; análises microbiológicas do produto desidratado; e avaliação sensorial do pão de queijo contendo o autolisado desidratado, através de escala hedônica e teste de atitude. RESULTADOS: O autolisado desidratado apresentou: 1,2% de lipídeos; 24,7% de proteínas; 51,3% de fibras totais, sendo 2,4% de fibras solúveis e 48,9% de insolúveis; e 6,2% de cinzas. As análises microbiológicas mostraram-se dentro do limite recomendado pela Agência Nacional de Vigilância Sanitária. O perfil aminoacídico mostrou deficiência de histidina e metionina+cistina. A análise sensorial do pão de queijo mostrou boa aceitação, tendo apenas cor e aparência recebido notas baixas. A maioria dos participantes disse que "gosta disto e compraria de vez em quando". CONCLUSÃO: Os valores de proteína e aminoácidos encontrados na levedura de cachaça de alambique foram inferiores ao mostrado na literatura para levedura de cervejaria e destilaria de álcool etílico. A levedura desidratada estava microbiologicamente apta para consumo humano. A baixa aceitabilidade da aparência do pão de queijo provavelmente ocorreu pelo fato de os consumidores não estarem habituados à cor escura do produto. Trabalhos futuros poderão sugerir adição em outros produtos que apresentem aparência mais atrativa.<br>OBJECTIVE: This study aimed to study the properties of yeast (Saccharomyces cerevisiae) autolysate obtained from pot still rum, including centesimal composition, amino acid profile and microbiological analysis, and perform a sensory analysis of cheese buns (also known as Brazilian cheese bread or rolls) enriched with dried autolysate. METHODS: Autolysate was obtained by rinsing and autolyzing the biomass and dried on a tray dryer at 70º. Its composition was then determined (fat, protein, total fiber, soluble fiber, insoluble fiber, ash and amino acid contents) followed by microbiological analysis. Finally, cheese buns enriched with dried autolysate were submitted to sensory analysis using the hedonic scale and attitude test. RESULTS: Dried autolysate contained 1.2% fats; 24.7% proteins; 51.3% total fiber, where 2.4% was soluble and 48.9% was insoluble; and 6.2% ash. According to microbiological analysis, the product complied with the microbiological limits established by the Agência Nacional de Vigilância Sanitária. Amino acid profile showed that histidine and methionine-cystine levels were low. Sensory analysis indicated good acceptance of the cheese buns. Only their color and appearance received low scores. Most participants reported liking the cheese buns and willingness to buy them on occasion. CONCLUSION: The protein and amino acid levels found in pot still rum were lower than those reported in the literature for breweries and ethanol distilleries. Dried yeast was microbiologically suitable for human consumption. The low grades given to the appearance of the cheese buns were probably due to their unappealing dark color, as opposed to the usual pale yellow color. Future studies could suggest the addition of dried yeast to products whose visual appeal will not be as affected

Body mass index and complications following major gastrointestinal surgery: A prospective, international cohort study and meta-analysis

Aim Previous studies reported conflicting evidence on the effects of obesity on outcomes after gastrointestinal surgery. The aims of this study were to explore the relationship of obesity with major postoperative complications in an international cohort and to present a metaanalysis of all available prospective data. Methods This prospective, multicentre study included adults undergoing both elective and emergency gastrointestinal resection, reversal of stoma or formation of stoma. The primary end-point was 30-day major complications (Clavien\u2013Dindo Grades III\u2013V). A systematic search was undertaken for studies assessing the relationship between obesity and major complications after gastrointestinal surgery. Individual patient meta-analysis was used to analyse pooled results. Results This study included 2519 patients across 127 centres, of whom 560 (22.2%) were obese. Unadjusted major complication rates were lower in obese vs normal weight patients (13.0% vs 16.2%, respectively), but this did not reach statistical significance (P = 0.863) on multivariate analysis for patients having surgery for either malignant or benign conditions. Individual patient meta-analysis demonstrated that obese patients undergoing surgery formalignancy were at increased risk of major complications (OR 2.10, 95% CI 1.49\u20132.96, P &lt; 0.001), whereas obese patients undergoing surgery for benign indications were at decreased risk (OR 0.59, 95% CI 0.46\u20130.75, P &lt; 0.001) compared to normal weight patients. Conclusions In our international data, obesity was not found to be associated with major complications following gastrointestinal surgery. Meta-analysis of available prospective data made a novel finding of obesity being associated with different outcomes depending on whether patients were undergoing surgery for benign or malignant disease