Glycogen storage diseases (GSDs) are genetically determined metabolic diseases that cause disorders of glycogen metabolism in the body. Due to the enzymatic defect at some stage of glycogenolysis/glycogenesis, excess glycogen or its pathologic forms are stored in the body tissues. The first symptoms of the disease usually appear during the first months of life and are thus the domain of pediatricians. Due to the fairly wide access of the authors to unpublished materials and research, as well as direct contact with the GSD patients, the article addresses the problem of actual diagnostic procedures for patients with the suspected diseases. Knowledge and awareness of the problem among physicians seem insufficient, and research on the diagnosis and treatment of GSD is still ongoing, resulting in a heterogeneous GSD typology and a changing way of its diagnosis and treatment.

Background and Study Aim. To evaluate anterior-posterior spine curvatures and incidence of sagittal defects in children and adolescents practicing traditional Karate. Material and Methods. 152 people aged 6-16 yrs, mean age 10.5±3.03. The study group (SG), subjects attending traditional Karate classes for min one year, 60 minutes twice a week (76 people). The control group (CG) randomly selected on 1:1 basis to match SG. The anterior-posterior curvatures were measured with a gravitational inclinometer. Sauder’s norms were used to assess postural defects. Body mass, height, and BMI were measured. Mann-Whitney U-test/Student’s t-test for independent variables, χ2 test, and Cramer V test were used in statistical analysis. Results. Significant differences were observed between the groups in lumbosacral inclination ALPHA1 p<0.001; karateka had significantly lower ALPHA 1 and greater thoracic inclination (GAMMA TH/L) p=0.23. In study group, lumbosacral angle flattening (ALPHA 2) (81.6%) was greater than in CG (56.6%). ALPHA 2 (43.4%) was more frequently within the norm in CG. Increased ALPHA 2 was reported only among SG (2.6%). Differences were statistically significant (χ2 (2) = 15.23 p<0.001) and of moderate power (Cramer V=0.31). Regarding thoracic kyphosis and lumbar lordosis, there were no statistically significant differences between the groups. Conclusions. Traditional Karate affects pelvic tilt leading to posterior tilt; it correlates with somatic parameters: height, mass, and BMI in terms of spine curvatures. The size of the lumbar lordosis and thoracic kyphosis in karatekas is comparable to that of those not practicing sport. Frequent incidence of reduced pelvic tilt in karatekas requires implementing exercises activating anterior tilt during training session.

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In this study we examined the genotype distribution of the PPARD rs2267668, rs2016520, and rs1053049 alleles in a group of women, before and after the completion of a 12-week training program. There were two significant genotype × training interactions resulting in decreases of total cholesterol (Chol) through training in rs2267668 G allele carriers and significant increases of triglyceride (TGL) levels in rs2267668 AA homozygotes. Carriers of rs2016520 PPARD C allele exhibited a significant decrease in Chol through training with an accompanying decrease in TGL. There was also overrepresentation of PPARD rs1053049 TT homozygotes in the group with higher post-training TGL levels. Moreover (rs2267668/rs2016520/rs1053049) G/C/T haplotype displayed smaller post-training body mass decrease, suggesting that harboring this specific G/C/T haplotype is unfavorable for achieving the desired training-induced body mass changes. On the other hand, the G/C/C haplotype was significantly associated with post-training increase in fat free mass (FFM) and with lower levels of Chol as well as TGL as observed in the blood of the participants in response to applied training. This observation constitutes the second important finding of the study, implying that when specific training-induced biochemical changes are taken into account, some individuals may benefit from carrying the G/C/C haplotype.