Presentation, diagnosis, and medical management of heart failure in children: Canadian Cardiovascular Society guidelines.

Pediatric heart failure (HF) is an important cause of morbidity and mortality in childhood. This article presents guidelines for the recognition, diagnosis, and early medical management of HF in infancy, childhood, and adolescence. The guidelines are intended to assist practitioners in office-based or emergency room practice, who encounter children with undiagnosed heart disease and symptoms of possible HF, rather than those who have already received surgical palliation. The guidelines have been developed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology, and are accompanied by practical Recommendations for their application in the clinical setting, supplemented by online material. This work does not include Recommendations for advanced management involving ventricular assist devices, or other device therapies.

Variaciones en el número de metámeros del músculo recto abdominal. Una guía para la lipoescultura de alta definición / Variation in the number of metamers of rectus abdominis muscle. A high definition lipoesculture guide

Introducción y Objetivo. El recto abdominal es un músculo que consta, generalmente, de 3 inserciones tendinosas transversas. La lipoescultura de alta definición apunta a delinear la musculatura abdominal, sin embargo, una de sus dificultades es determinar mediante la anatomía de superficie el número de metámeros presentes. Nos planteamos describir las variaciones en el número de metámeros del músculo recto del abdomen en la población chilena mediante análisis de tomografía computarizada de abdomen y pelvis, así como determinar si existe un patrón para la marcación quirúrgica de los metámeros. Material y Métodos. Empleamos una muestra aleatoria de 200 pacientes que cumplían los criterios de inclusión: mayores de 18 años y menores de 65 años, estudio de tomografía computarizada de abdomen y pelvis con secuencia coronal realizado en el Hospital Clínico de la Universidad de Chile entre enero y mayo del 2017; y de exclusión: patología de la pared abdominal, cirugía abdominal previa, estudio imagenológico inadecuado. Describimos el sexo, número de inserciones tendinosas supra e infraumbilicales, ángulo costal corto, ángulo costal completo, diámetro xifo-umbilical y umbílico-púbico. Analizamos los datos con STATA® v13, considerando un valor estadísticamente significativo de p<0.05 e intervalos de confianza de 95%. Resultados. Del total de paciente, 100 (50%) de los pacientes fueron mujeres. La media de edad fue de 40,9 ± 12.1 años, y 154 pacientes (77%) tenían 3 metámeros. No evidenciamos diferencias significativas entre ambos sexos (p=0.393). Ni en el análisis de la distancia xifo-umbilical (p=0.185) ni de la umbílico-púbica (p=0.327) entre sexos respectivamente. El número de metámeros se encuentra en relación inversa al tamaño de los mismos. La angulación del reborde costal en relación al xifoides es significativamente menor en mujeres (69.4 ± 15.2 frente a 80.2 ± 14.2). Conclusiones. La anatomía más frecuente del músculo recto del abdomen en la población chilena corresponde a 3 metámeros supraumbilicales por cada recto abdominal. Cuanto menor sea la relación entre la distancia xifoumbilical / distancia xifo-púbica, menor cantidad de metámeros tiene el músculo recto. No fue posible predecir en forma precisa el número de metámeros mediante otra medida antropométrica

Background and Objective. Rectus abdominis muscle usually have 3 tendinous intersections. The aims of high definition abdominal liposculpture is to delineate the musculature. One of its difficulties is to determine by the surface anatomy the number of metamers presents. The aim of this study is to describe the variations in the number of metamers of the rectus abdominis muscle in the Chilean population and determine if there is a pattern that helps to the surgical mark of the abdominis metamers. Methods. Randomized sample of 200 patients who met inclusion criteria: >18 years of age and under 65 years, tomographic study of the abdomen and pelvis with coronal sequence, performed at the Clinical Hospital of the University of Chile between January and May 2017; and exclusion: pathology of the abdominal wall, previous abdominal surgery or inadequate imaging study. Sex, number of tendinous intersections supra and infraumbilical, short costal angle, complete costal angle, xipho-umbilical distance and umbilico-pubic measures were described. The data were analyzed with STATA®v13, being considered statistically significant with p<0.05 and 95% confidence intervals. Results. One hundred patients (50%) were women, mean age 40.9 ± 12.1 years, and 154 patients (77%) had 3 metamers. There were no significant differences by sex (p=0.393). Neither in the analysis of the xipho-umbilical distance (p=0.185) and the umbilical-pubic distance (p=0.327) by genders. The number of metamers is in inverse relation to its size. The angulation of the costal ridge relative to the xiphoid is significantly lower in women (69.4 ± 15.2 versus 80.2 ± 14.2). Conclusions. The most common rectus abdominis muscle pattern in the Chilean population corresponds to 3 supra umbilical metamers for each side (six-pack). The smaller the relationship between the xifo-umbilical distance / xifo-pubic distance, less number of metamers of the rectus abdominis. It was not possible to predict the number of metamers by another anthropometric measurement

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

Attention deficit hyperactivity disorder (ADHD) is a common and persistent condition characterized by developmentally atypical and impairing inattention, hyperactivity, and impulsiveness. We identified de novo and rare copy number variations (CNVs) in 248 unrelated ADHD patients using million-feature genotyping arrays. We found de novo CNVs in 3 of 173 (1.7%) ADHD patients for whom we had DNA from both parents. These CNVs affected brain-expressed genes: DCLK2, SORCS1, SORCS3, and MACROD2. We also detected rare inherited CNVs in 19 of 248 (7.7%) ADHD probands, which were absent in 2357 controls and which either overlapped previously implicated ADHD loci (for example, DRD5 and 15q13 microduplication) or identified new candidate susceptibility genes (ASTN2, CPLX2, ZBBX, and PTPRN2). Among these de novo and rare inherited CNVs, there were also examples of genes (ASTN2, GABRG1, and CNTN5) previously implicated by rare CNVs in other neurodevelopmental conditions including autism spectrum disorder (ASD). To further explore the overlap of risks in ADHD and ASD, we used the same microarrays to test for rare CNVs in an independent, newly collected cohort of 349 unrelated individuals with a primary diagnosis of ASD. Deletions of the neuronal ASTN2 and the ASTN2-intronic TRIM32 genes yielded the strongest association with ADHD and ASD, but numerous other shared candidate genes (such as CHCHD3, MACROD2, and the 16p11.2 region) were also revealed. Our results provide support for a role for rare CNVs in ADHD risk and reinforce evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders.

Extension of human cell lifespan by nicotinamide phosphoribosyltransferase.

Extending the productive lifespan of human cells could have major implications for diseases of aging, such as atherosclerosis. We identified a relationship between aging of human vascular smooth muscle cells (SMCs) and nicotinamide phosphoribosyltransferase (Nampt/PBEF/Visfatin), the rate-limiting enzyme for NAD+ salvage from nicotinamide. Replicative senescence of SMCs was preceded by a marked decline in the expression and activity of Nampt. Furthermore, reducing Nampt activity with the antagonist FK866 induced premature senescence in SMCs, assessed by serial quantification of the proportion of cells with senescence-associated beta-galactosidase activity. In contrast, introducing the Nampt gene into aging human SMCs delayed senescence and substantially lengthened cell lifespan, together with enhanced resistance to oxidative stress. Nampt-mediated SMC lifespan extension was associated with increased activity of the NAD+-dependent longevity enzyme SIRT1 and was abrogated in Nampt-overexpressing cells transduced with a dominant-negative form of SIRT1 (H363Y). Nampt overexpression also reduced the fraction of p53 that was acetylated on lysine 382, a target of SIRT1, suppressed an age-related increase in p53 expression, and increased the rate of p53 degradation. Moreover, add-back of p53 with recombinant adenovirus blocked the anti-aging effects of Nampt. These data indicate that Nampt is a longevity protein that can add stress-resistant life to human SMCs by optimizing SIRT1-mediated p53 degradation.