Influence of Physical Fitness, Anthropometric Profile, and Biological Maturation on Technical Performance and Enjoyment of Untrained Children Who Participate in Continuous and Fractional Small-Sided Games.

The objective is to determine the relationship between physical fitness, anthropometric measures, and biological maturation as they relate to technical performance in small-sided games (SSGs) of continuous and fractioned regimes. Methodology: A crossover-design study in which 12 children participated in two regimens of SSG (continuous and fractional). At the beginning of the study, all children were evaluated using physical fitness tests (horizontal jump test, vertical jump, cardiorespiratory fitness, and agility), anthropometric profile (weight, height, Body Mass Index (BMI), and waist circumference (WC)), and biological maturation (peak years of growth velocity).

The odyssey of complex neurogenetic disorders: From undetermined to positive.

The genetic and phenotypic heterogeneity of neurogenetic diseases forces patients and their families into a "diagnostic odyssey." An increase in the variability of genetic disorders and the corresponding gene-disease associations suggest the need to periodically re-evaluate the significance of variants of undetermined pathogenicity. Here, we report the diagnostic and clinical utility of Targeted Gene Panel Sequencing (TGPS) and Whole Exome Sequencing (WES) in 341 patients with suspected neurogenetic disorders from centers in Buenos Aires and Cincinnati over the last 4 years, focusing on the usefulness of reinterpreting variants previously classified as of uncertain significance.

Beyond the Categorical Distinction Between Borderline Personality Disorder and Bipolar II Disorder Through the Identification of Personality Traits Profiles.

Background: The relationship between borderline personality disorder (BPD) and type-II bipolar disorder (BDII) is not clearly understood. Nevertheless, in clinical practice and research, most efforts focus on establishing a categorical distinction between the two. We propose using personality traits as a more informative strategy to describe them.

SERT and BDNF polymorphisms interplay on neuroticism in borderline personality disorder.

Objective: Genetic factors underlying different personality traits are not entirely understood, particularly how genes interact to modulate their effect. We studied 76 patients diagnosed with borderline personality disorder (BPD), characterized by extreme levels of personality traits, especially neuroticism (N), in which we genotyped two polymorphisms, the 5HTTLPR of the Serotonin transporter (SERT) gene, and the Val66Met of the Brain-derived neurotrophic factor (BDNF) gene.

Results: We found an association with SERT, where S-allele carriers had significantly higher levels of N than L-homozygous.

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.

Malformations of cortical development are a frequent cause of drug-resistant Epilepsy and developmental delay. Hemimegalencephaly is a Malformation of cortical development characterized by enlargement of all or a part of one cerebral hemisphere. Germline and somatic mutation in genes belonging to the Mammalian Target of Rapamycin (mTOR) pathway has been identified in patients suffering from epilepsy secondary to Hemimegalencephaly and focal cortical dysplasia.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Background: Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare.

Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype.

Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome-wide association studies including large population-based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date.