The Use of Free Weight Squats in Sports: A Narrative Review-Squatting Movements, Adaptation, and Sports Performance: Physiological.

Stone, MH, Hornsby, G, Mizuguchi, S, Sato, K, Gahreman, D, Duca, M, Carroll, K, Ramsey, MW, Stone, ME, and Haff, GG. The use of free weight squats in sports: a narrative review-squatting movements, adaptation, and sports performance: physiological. J Strength Cond Res 38(8): 1494-1508, 2024-The squat and its variants can provide numerous benefits including positively affecting sports performance and injury prevention, injury severity reduction, and rehabilitation.

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia.

DAG1 encodes for dystroglycan, a key component of the dystrophin-glycoprotein complex (DGC) with a pivotal role in skeletal muscle function and maintenance. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy and muscle-eye-brain disease. A possible contribution of DAG1 deficiency to milder muscular phenotypes has been suggested.

Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.

Objective: NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature.

Methods: Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, suggestive of sleep-related hypermotor epilepsy (SHE), and a family history of epilepsy in siblings.

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of .

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, is referred to as Moyamoya syndrome (MMS). MMD is a cerebral arteriopathy characterized by the occlusion of intracranial arteries and collateral vessel formation, which increase the risk of ischemic and hemorrhagic events.

Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background.

Background: Cystic fibrosis is caused by mutations impairing expression, trafficking, stability and/or activity of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The G1244E mutation causes a severe gating defect that it is not completely rescued by ivacaftor but requires the use of a second compound (a co-potentiator). Recently, it has been proposed that the corrector elexacaftor may act also as a co-potentiator.

Training Specificity for Athletes: Emphasis on Strength-Power Training: A Narrative Review.

Specificity has two major components: A strength-endurance continuum (S-EC) and adherence to principles of Dynamic Correspondence. Available evidence indicates the existence of the S-EC continuum from two aspects. Indeed, the S-EC exists, particularly if work is equated as a high load low repetition scheme at one end (strength stimulus) and high volume (HIEE stimulus) at the other.

Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.

[This corrects the article DOI: 10.3389/fgene.2021.

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently Mutation.

Alexander disease is a leukodystrophy caused by heterozygous mutations of gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism. With the use of DNA isolated from peripheral blood, next-generation sequencing (NGS) of locus was performed with deep coverage (≥500×) in 11 probands and their parents (trios) with probands heterozygous for apparently mutations.

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.

Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in and characterized by a heterogeneous phenotypic presentation. Relevant genotype-phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National Institutes of Health (NIH) criterion for NF1.

The Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

Hirschsprung (HSCR) Associated Enterocolitis (HAEC) is a common life-threatening complication in HSCR. HAEC is suggested to be due to a loss of gut homeostasis caused by impairment of immune system, barrier defense, and microbiome, likely related to genetic causes. No gene has been claimed to contribute to HAEC occurrence, yet.

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with chronic intestinal pseudo-obstruction, either congenital or late-onset visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Here we report about ten pediatric and one adult patients, from nine families, carrying ACTG2 variants: four show novel still unpublished missense variants, including one that is apparently transmitted according to a recessive mode of inheritance. Four of the remaining five probands carry variants affecting arginine residues, that have already been associated with a severe phenotype.

Kinematics and Kinetics of Bulgarian-Bag-Overloaded Sprints in Young Athletes.

Background: Effective sprinting requires large acceleration capabilities. To accelerate, large amount of force must be produced and applied effectively. The use of different implements such as sleds and vests can increase the amount of force produced and alter sprinting effectiveness.

Effects of an Initial Muscle Strength Level on Sports Performance Changes in Collegiate Soccer Players.

The purposes of this study were to investigate effects of partial block periodized strength training on physical performance and to examine relationships between initial muscle strength measured with isometric mid-thigh pull (IMTP) and performance changes after 7 weeks of strength training. Seventeen collegiate male soccer players participated. Initial muscle strength was determined using IMTP while physical performance included 10 m and 20 m sprints and static vertical jump with a polyvinyl chloride pipe (SJ0), 20 kg barbell (SJ20), and barbell loaded to 40 kg bar (SJ40).

Mental fatigue impairs physical activity, technical and decision-making performance during small-sided games.

The aim of this study was to investigate the effects of mental fatigue on physical activity, technical and decision-making performance during small-sided games. Nine sub-elite soccer players were enrolled in the study. The players performed two small-sided games on two occasions within a crossover experimental design.

Short-Term Compound Training on Physical Performance in Young Soccer Players.

This study aimed to investigate the effects of a five-week compound training (with strength and plyometric exercises performed on separate days) on sprint, change of direction, and vertical jump in young soccer players. Eighteen novices in strength and plyometric training were assigned to either a compound training (CMPT) or a control condition (CNT). Both groups trained three times per week.

Acute Effect of Exercise on Cognitive Performance in Middle-Aged Adults: Aerobic Versus Balance.

Background: Recent evidence has suggested that chronic physical activities including balance exercises have positive effects on cognition, but their acute effects are still unknown. In the present study, the authors tested the hypothesis that an acute bout of balance exercise would enhance cognitive performance compared with aerobic activity.

Methods: A total of 20 healthy middle-aged adults completed 2 acute 30-minute balance and moderate-intensity aerobic exercise sessions on 2 counterbalanced separate occasions.

Volleyball-Specific Skills and Cognitive Functions Can Discriminate Players of Different Competitive Levels.

Formenti, D, Trecroci, A, Duca, M, Vanoni, M, Ciovati, M, Rossi, A, and Alberti, G. Volleyball-specific skills and cognitive functions can discriminate players of different competitive levels. J Strength Cond Res 36(3): 813-819, 2022-The aim of this study was to investigate whether volleyball-specific skills, physical performance, and general cognitive functions differ between players of different competitive levels.

Perceptual vision training in non-sport-specific context: effect on performance skills and cognition in young females.

Although an increasing interest in vision training for sport performance, whether it may have a transfer to sport-specific skills and whether such transfer could be mediated by cognition remain open issues. To enlighten this point, we tested the effect of 6-weeks sport vision training programmes (requiring generic or volleyball-specific motor actions) in non-sport-specific context compared to a third group performing traditional volleyball training in sport-specific context. Fifty-one female volleyball players were randomly assigned to one of three groups.

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.

Background: Cryopyrin-associated periodic syndromes (CAPS) are a group of autoinflammatory diseases linked to gain-of-function mutations in the NOD-like receptor family, pyrin domain containing 3 (NLRP3) gene, which cause uncontrolled IL-1β secretion. Proton pump inhibitors (PPIs), which are commonly used as inhibitors of gastric acid production, also have anti-inflammatory properties, protect mice from sepsis, and prevent IL-1β secretion by monocytes from patients with CAPS.

Objective: We sought to develop a novel Nlrp3 knock-in (KI) mouse model of CAPS to study amyloidosis, a severe CAPS complication, and test novel therapeutic approaches.

Evaluation of Chimerism Dynamics after Allogeneic Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Diseases.

It is recognized that chimerism following hematopoietic stem cell transplantation (HSCT) is a dynamic process. The aims of this study were to describe the evolution of chimerism in children with nonmalignant diseases who underwent allogeneic HSCT, and to analyze the risk factors influencing chimerism status. A total of 101 HSCTs were performed in 85 patients with nonmalignant diseases.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Objective: To evaluate the rate of somatic mosaicism in an Italian cohort of mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS).

Methods: The study enrolled 14 patients with a clinical phenotype consistent with CAPS in whom Sanger sequencing of the gene yielded negative results. Patients' DNA were subjected to amplicon-based deep sequencing.