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Background: Raw data obtained through bioelectrical impedance analysis (BIA) have been applied in different populations to assess body fluids and cell integrity. Assessing raw BIA parameters in specific muscles is an emerging method for evaluating muscle function. We investigated the associations of the BIA-derived variables of resistance (R), reactance (Xc) and phase angle (PhA) measured through whole-body (WB) and muscle-localized (ML) methods with performance in the countermovement jump (CMJ) and 50-meter (m) sprint., Methods: Thirty-one male track and field athletes (16.5 ± 1.6 years) were assessed. Fat-free mass (FFM) and Fat mass percentage (%FM) were determined by skinfold thickness. BIA at 50 kHz was employed to obtain the WB and ML (right thigh) parameters. The WB and ML-BIA parameters were adjusted by height (R/H, Xc/H) and segment length (R/L, Xc/L). The CMJ assessment was conducted via a contact mat; the software recorded the jump height. The 50-m sprint time was measured via two sets of photocells. Pearson's correlation and linear multiple regression were performed., Results: ML-PhA was inversely related to the 50-m sprint (β=-0.56) and by itself explained 29% of the sprint time variation. It remained a significant predictor even after adjusting for age, height, FFM and peak height velocity (PHV). ML-R/L was directly related to 50-m sprint (β = 0.48) and inversely related to CMJ performance (β=-0.54), explaining 20% and 27% of the variation in 50-m sprint and CMJ performance, respectively. Similarly, it remained a significant predictor in the adjusted models. Correlations between WB-BIA (PhA, R/H) and performance tests were found to be dependent on covariates., Conclusions: In this sample, the ML-BIA parameters of R/L and PhA were significantly associated with performance independent of age, height, FFM and PHV. Higher ML-PhA values were associated with better sprint times, whereas higher ML-R/L values were associated with worse sprint times and CMJ performance., Competing Interests: Declarations. Ethics approval and consent to participate: The study was approved by the Ethics Committee of the State University of Campinas under protocol number 6.735.234 and was conducted in accordance with the Declaration of Helsinki. All participants provided written informed consent. For minors, informed consent to participate was obtained from their parents or legal guardians after they were thoroughly informed about all study procedures. Consent for publication: Not applicable. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Background: Musculoskeletal injuries are the main cause of premature discharge from military service and can sometimes lead to permanent disabilities. Some intrinsic risk factors are well discussed in the literature. However, the relation between body composition variables and the risk for musculoskeletal injury is not well known or recognized., Methods: This prospective study evaluated 205 Brazilian military students. At the beginning of military service, health status and sports experience prior to military service were registered. Anthropometric variables were evaluated, and bone and body composition variables were measured using dual-energy X-ray absorptiometry. The occurrence of musculoskeletal injuries throughout the year was registered at the military physiotherapy service. At the end of 1 year of follow-up, risk factors were analysed by comparing the variables between the injured and non-injured students., Results: No difference in previous health status was found between injured and non-injured groups, whereas sports experience prior to military service was identified as a protective factor (Odds Ratio (OR) 0.323; 95% CI: 0.108-0.968; p = 0.044). Anthropometric, bone, and body composition variables could not be identified as risk factors for musculoskeletal injuries in Brazilian military students., Conclusion: Anthropometric, bone, and body composition variables could not be considered risk factors for musculoskeletal injuries in Brazilian military students.

Background: Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disorders, including those involving alterations in cognitive and emotional processes., Methods: The aim of this study was to evaluate the association between the SNPs c.957C > T (rs6277) and c.-585A > G (rs1799978) in the DRD2 gene and behavioral characteristics of children and adolescents based on an inventory of the Child Behavior Checklist (CBCL). Children and adolescents between 8 and 20 years old who were clinically followed-up were genotyped for the SNPs c.957C > T and c.-585A > G, and related to data of the CBCL/6-18 scale assessment performed with the help of caregivers. The chi-squared test was used to assess the differences in the frequencies of the C and T alleles in the polymorphism c.957C > T and of the A and G alleles in the polymorphism c.-585A > G with respect to the grouped CBCL scores at a significance level of 5%. Multiple logistic regression models were performed, to control whether sex and/or ethnicity could influence the results., Results: Eighty-five patients were assessed overall, and the presence of the T allele (C/T and T/T) of DRD2 c.957C > T polymorphism was found to be significantly associated with the occurrence of defiant and oppositional problems and with attention and hyperactivity problems. There were no associations detected with polymorphism DRD2 c.-585A > G polymorphism. Both SNPs were in Hardy-Weinberg-equilibrium., Conclusions: Although the findings of this study are preliminary, due to its small number of participants, the presence of T allele (C/T, T/T) in c.957C > T SNP was associated with difficulty in impulse control, self-control of emotions, and conduct adjustment, which can contribute to improving the identification of mental and behavioral phenotypes associated with gene expression.

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozygous or compound heterozygous inactivating mutations in GCK gene as cause of PNDM are rare. In contrast, heterozygosis for GCK inactivating mutations is frequent and results in the maturity-onset diabetes of young (MODY), manifested by a mild fasting hyperglycemia usually detected later in life. Therefore, as an autosomal recessive disorder, GCK-PNDM should be considered in families with history of glucose intolerance or MODY in first relatives, especially when consanguinity is suspected., Results: Here we describe two patients born from non-consanguineous parents within a family. They presented low birth weight with persistent hyperglycemia during the first month of life. Molecular analyses for KCNJ11, INS, ABCC8 did not show any mutation. GCK gene sequencing, however, revealed that both patients were compound heterozygous for two missense combined in a novel GCK-PNDM genotype. The p.Asn254His and p.Arg447Gly mutations had been inherited from their mothers and fathers, respectively, as their mothers are sisters and their fathers are brothers. Parents had been later diagnosed as having GCK-MODY., Conclusions: Mutations' in silico analysis was carried out to elucidate the role of the amino acid changes on the enzyme structure. Both p.Asn254His and p.Arg447Gly mutations appeared to be quite damaging. This is the first report of GCK-PNDM in a Brazilian family.

Background: Disorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene (NR5A1) encodes steroidogenic factor 1 (SF1), a transcription factor that is involved in gonadal development and regulates adrenal steroidogenesis. Mutations in the NR5A1 gene may lead to different 46,XX or 46,XY DSD phenotypes with or without adrenal failure. We report a Brazilian family with a novel NR5A1 mutation causing ambiguous genitalia in 46,XY affected individuals without Müllerian derivatives and apparently normal Leydig function after birth and at puberty, respectively. Their mother, who is also heterozygous for the mutation, presents evidence of primary ovarian insufficiency., Case Presentation: Three siblings with 46,XY DSD, ambiguous genitalia and normal testosterone production were included in the study. Molecular analyses for AR, SRD5A2 genes did not reveal any mutation. However, NR5A2 sequence analysis indicated that all three siblings were heterozygous for the p.Cys65Tyr mutation which was inherited from their mother. In silico analysis was carried out to elucidate the role of the amino acid change on the protein function. After the mutation was identified, all sibs and the mother had been reevaluated. Basal hormone concentrations were normal except that ACTH levels were slightly elevated. After 1 mcg ACTH stimulation test, only the older sib showed subnormal cortisol response., Conclusion: The p.Cys65Tyr mutation located within the second zinc finger of DNA binding domain was considered deleterious upon analysis with predictive algorithms. The identification of heterozygous individuals with this novel mutation may bring additional knowledge on structural modifications that may influence NR5A1 DNA-binding ability, and may also contribute to genotype-phenotype correlations in DSD. The slightly elevated ACTH basal levels in all three patients with 46,XY DSD and the subnormal cortisol response after 1 mcg ACTH stimulation in the older sib indicate that a long-term follow-up for adrenal function is important for these patients. Our data reinforce that NR5A1 analysis must also be performed in 46,XY DSD patients with normal testosterone levels without AR mutations.

Background: The aim of the study was to verify the association between body composition and physical fitness with bone status in children and adolescents., Methods: A cross-sectional study was conducted with 300 healthy students (148 boys, 152 girls). Weight, height, fat and fat-free mass, and percentage of body fat (%BF) were evaluated, as were physical fitness (abdominal exercise, flexibility, and horizontal jump tests) and maximum oxygen consumption. Bone parameters (amplitude-dependent speed of sound; AD-SoS) and the Ultrasound Bone Profile Index (UBPI) were evaluated using DBM Sonic BP ultrasonography., Results: In the study group, girls had higher bone parameter values than boys. A univariate analysis assessed in a stepwise multiple regression model was conducted. It showed that for boys, the %BF and height were significant independent variables for AD-SoS and UBPI, but the horizontal jump test only for AD-SoS (adjusted r2 = 0.274; p < 0.001), and pubertal maturation only for UBPI (adjusted r2 = 0.295; p < 0.001). For girls, age and %BF were identified as significant independent variables for AD-SoS and UBPI (adjusted r2 = 0.093; p < 0.001) but height only for AD-SoS (adjusted r2 = 0.408; p < 0.001)., Conclusions: Variables related to growth (age, height, and pubertal maturation) are independent positive predictors for the bone parameters in both boys and girls. %BF is an independent negative predictor. For boys, the horizontal jump test was an independent positive predictor for AD-SoS, indicating that physical fitness related to the neuromotor system can influence the amount of bone present.

Background: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine Kinase RP, complement C4, steroid 21-hydroxylase CYP21 tenascin TNX, normally, in a duplicated cluster known as RCCX module. The CYP21 extra copy is a pseudogene (CYP21A1P). In Brazil, 30-kb deletion forming monomodular alleles that carry chimeric CYP21A1P/A2 genes corresponds to ~9% of disease-causing alleles. Such alleles are considered to result from unequal crossovers within the bimodular C4/CYP21 locus. Depending on the localization of recombination breakpoint, different alleles can be generated conferring the locus high degree of allelic variability. The purpose of the study was to investigate the variability of deleted alleles in patients with 21-hydroxylase deficiency., Methods: We used different techniques to investigate the variability of 30-kb deletion alleles in patients with 21-hydroxylase deficiency. Alleles were first selected after Southern blotting. The composition of CYP21A1P/A2 chimeric genes was investigated by ASO-PCR and MLPA analyses followed by sequencing to refine the location of recombination breakpoints. Twenty patients carrying at least one allele with C4/CYP21 30-kb deletion were included in the study., Results: An allele carrying a CYP21A1P/A2 chimeric gene was found unusually associated to a C4B/C4A Taq I 6.4-kb fragment, generally associated to C4B and CYP21A1P deletions. A novel haplotype bearing both p.P34L and p.H62L, novel and rare mutations, respectively, was identified in exon 1, however p.P30L, the most frequent pseudogene-derived mutation in this exon, was absent. Four unrelated patients showed this haplotype. Absence of p.P34L in CYP21A1P of normal controls indicated that it is not derived from pseudogene. In addition, the combination of different approaches revealed nine haplotypes for deleted 21-hydroxylase deficiency alleles., Conclusions: This study demonstrated high allelic variability for 30-kb deletion in patients with 21-hydroxylase deficiency indicating that a founder effect might be improbable for most monomodular alleles carrying CYP21A1P/A2 chimeric genes in Brazil.