Trio-based whole exome sequencing in patients with ectopic posterior pituitary.

Introduction: Ectopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved.

Objective: To search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases.

Metabolic risk factors in prepubertal and pubertal patients with overweight and obesity.

Objectives: Metabolic syndrome (MetS) is a cluster of conditions linked to obesity that increases cardiovascular risk. We evaluated the frequency of clinical abnormalities associated with overweight and obesity in childhood, to determine whether a diagnosis of MetS is appropriate in this population.

Methods: Cross-sectional study with 116 pubertal and prepubertal children with a mean age (SD) of 10.

Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia.

Background: Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by changes in several organs and systems. Advances in clinical protocols have resulted in increased survival of A-T patients, however disease progression is evident, mainly through metabolic and liver changes.

Objective: To identify the frequency of significant hepatic fibrosis in A-T patients and to verify the association with metabolic alterations and degree of ataxia.

Probiotic therapy outcomes in body composition of children and adolescent with obesity, a nonrandomized controlled trial.

Objective: The objective of this study was to evaluate the impact of probiotic supplementation therapy on anthropometric values and body composition of children and adolescent with obesity.

Subjects And Methods: This is a nonrandomized controlled, prospective, double-blind interventional clinical trial with primary data analysis. The sample comprised 44 pubertal children and adolescent (8-17 years old) with obesity.

Six HIT Sessions Improve Cardiorespiratory Fitness and Metabolic Flexibility in Insulin Resistant and Insulin Sensitive Adolescents with Obesity.

Unlabelled: To evaluate the effect of high-intensity interval training (HIT) on the cardiorespiratory performance and substrate oxidation pattern in insulin-resistant and insulin-sensitive obese adolescents.

Methods: We recruited 25 obese adolescents in three schools, and trained them in six HIT sessions, comprising of six series at 100% and recovery at 50% peak velocity (Vpeak). For the evaluation, the participants were divided into two groups: insulin-resistant (IR, n = 12; HOMA index ≥3.