Variations in echocardiographic findings in patients with Loeys-Dietz syndrome type 4 with 2 types of variant mutations in TGFB.

Unlabelled: Loeys-Dietz syndrome (LDS) type 4 is a rare connective tissue disorder caused by mutations in the transforming growth factor β 2 gene. It is well-documented that LDS4 shares clinical features of Marfan syndrome (MFS), and vascular involvement is less significant compared to other types of LDS. However, information on the valvular characteristics is scarce due to the small number of reported cases.

Double innominate vein in a case with double aortic arch: a case report.

Background: Double aortic arch (DAA) is a type of vascular ring, causing stridor and dysphagia owing to compression of the trachea and esophagus. In contrast, double innominate veins, which is a relatively rare venous anomaly, usually does not cause symptoms or require intervention.

Case Presentation: A 2 month-old boy presented with mild stridor and a hoarse voice while crying, and was diagnosed as having DAA, small atrial septal defects and double innominate vein.

Influence of R577X Polymorphism on Blood Creatine Kinase Levels Relative to Number of Sprints in Brazilian Professional Soccer Players.

This study sought to assess how post-game creatine kinase (CK) levels correlate with the number of sprints and the impact of the polymorphism on this response. This research constituted a descriptive/observational, retrospective cross-sectional study. DNA was extracted from blood samples for polymorphism genotyping.

Identification of Genomic Predictors of Muscle Fiber Size.

The greater muscle fiber cross-sectional area (CSA) is associated with greater skeletal muscle mass and strength, whereas muscle fiber atrophy is considered a major feature of sarcopenia. Muscle fiber size is a polygenic trait influenced by both environmental and genetic factors. However, the genetic variants underlying inter-individual differences in muscle fiber size remain largely unknown.

Association between parental decisions regarding abortion and severity of fetal heart disease.

The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the severity, whether in complexity or lethality, significantly influences parental decisions concerning abortion. However, questions remain as to how fetal heart disease severity impacts parental decisions, given recent advancements in postsurgical outcomes.

Effect of sprint interval training load on maximal oxygen uptake in trained men.

Background: Sprint interval training (SIT) improves maximal aerobic and anaerobic performance, including oxygen uptake (VO2max), power output, and sprint performance. This study aimed to investigate the effect of SIT load on V̇O2max in trained subjects.

Methods: SIT was performed twice a week for three weeks by twenty-four trained men (aged: 20.

The Association between ACTN3 R577X Polymorphism and Range of Motion: A Systematic Review and Meta-analysis.

The R577X polymorphism in the α-actinin-3 gene () is associated with muscle strength and power; there is an association between R577X polymorphism and range of motion (ROM). We examined the effect of the R577X polymorphism on ROM through meta-analysis and systematic review. Relevant studies published before April 14, 2022 were identified from the PubMed database using the following keywords and Boolean operators: ("flexibility" or "Joint Range of Motion" or "Joint Flexibility" or "Range of motion") and ("ACTN3" or "alpha-actinin 3").

Effect of Online Home-Based Resistance Exercise Training on Physical Fitness, Depression, Stress, and Well-Being in Middle-Aged Persons: A Pilot Study.

This study investigated the effect of online home-based resistance exercise training on fitness, depression, stress, and well-being. A total of 67 individuals participated. Of them, 28 participants (13 men and 15 women, average age: 45.

Increase in children with developmental delay: Survey on 18-month-old children in Togane city, Japan.

Background: Individuals who visit hospitals with neurodevelopmental disorders have recently increased. To locate the cause for this increase, various factors, such as environmental and genetic ones, are being investigated. The objective of this study is to analyze the developmental delay in children and their background.

The Association between Total Genotype Score and Athletic Performance in Weightlifters.

This study aimed to investigate the relationship between power-oriented genetic polymorphisms and weightlifting status, create a total genotype score (TGS), and validate the association between TGS models and power-oriented athletes. First, 192 weightlifters and 416 controls were studied, and 12 polymorphisms that have previously been associated with strength, power status, and phenotype were genotyped using the TaqMan SNP genotyping assay. We calculated the TGS for the 12 polymorphisms using a PWM (power-oriented whole model) and for 6 of them using a WRM (weightlifting-related model) based on a case-control study.

ALDH2 gene polymorphism is associated with fitness in the elderly Japanese population.

Purpose: The aldehyde dehydrogenase 2 (ALDH2) rs671 polymorphism, which is exclusive to the Asian population, is related to many diseases. A high reactive oxygen species production in mitochondria, and low muscle strength in athletes and non-athletes, has been observed, as our previous study demonstrated. The purpose of this research was to investigate the influence of ALDH2 rs671 on the loss of muscle strength with aging and replicate our previous study in non-athletes.

The Association between the rs671 Polymorphism and Athletic Performance in Japanese Power and Strength Athletes.

The rs671 polymorphism is associated with the enzymatic activity of aldehyde dehydrogenase 2 (ALDH2), which is weakened by the A allele in East Asians. We recently reported the association of this polymorphism with the athletic status in athletic cohorts and the muscle strength of non-athletic cohorts. Therefore, we hypothesized the association of rs671 polymorphism with the performance in power/strength athletes.

Does resistance exercise lifting velocity change with different rest intervals?

Background: In this study, we examined the sex difference of the effect of rest intervals on lifting velocity during resistance exercise.

Methods: Twenty-two trained subjects (11 men and 11 women) were included. Each protocol consisted of 3 sets of 10 repetitions at 70% of 1- repetition maximum (1RM) with rest intervals of 90 s (R90), 150 s (R150), and 240 s (R240) in a crossover design.

Glycated hemoglobin level on admission associated with progression to severe disease in hospitalized patients with non-severe coronavirus disease 2019.

Aims/introduction: Poor glycemic control is known to be associated with severe infection development. This retrospective observational study examined whether glycemic control before coronavirus disease 2019 (COVID-19) onset contributes to progression from non-severe to severe COVID-19.

Materials And Methods: Glycated hemoglobin (HbA1c) was measured on hospital admission in 415 patients with non-severe COVID-19.

Association between MCT1 T1470A polymorphism and climbing status in Polish and Japanese climbers.

Sport climbing will become an official event at the 2020 Tokyo Olympics; it is a popular wilderness sport among athletes and amateurs. Our previous study suggested that the T1470A polymorphism (rs1049434) of the monocarboxylate transporter 1 (MCT1) gene is associated with athletic performance and physiological phenotypes. The purpose of this study was to investigate the frequency of MCT1 T1470A polymorphism in Polish and Japanese climbers using a case-control study.