Exome-Wide Association Study of Competitive Performance in Elite Athletes.

The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10-7) in genotype-phenotype and case-control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes.

Evaluation of the Association of VDR rs2228570 Polymorphism with Elite Track and Field Athletes' Competitive Performance.

The present study aimed to examine the vitamin D receptor (VDR), rs2228570 polymorphism, and its effect on elite athletes' performance. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/ physically inactive, aged 18-35, voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the athletes' personal best (PB). Whole exome sequencing (WES) was performed by the genomic DNA isolated from the peripheral blood of the participants. Sports type, sex, and competitive performance were chosen as the parameters to compare within and between the groups by linear regression models. The results showed no statistically significant difference between the CC, TC, and TT genotypes within and between the groups (p > 0.05). Additionally, our results underlined that there were no statistically significant differences for the association of rs2228570 polymorphism with PBs within the groups of the (p > 0.05) athletes. The genetic profile in the selected gene was similar in elite endurance, sprint athletes, and in controls, suggesting that rs2228570 polymorphism does not determine competitive performance in the analyzed athlete cohort.

One-Stage Cleft Lip and Palate Repair in an Older Population.

BACKGROUND: In underdeveloped countries one-stage definitive repair of cleft lip and palate is considered for late-presenting patients. MATERIALS AND METHODS: A total of 25 patients with unoperated cleft lip and palate more than 2 years of age were enrolled in this study for one-stage simultaneous repair of cleft lip and palate. According to Veau-Wardill-Kilner push-back technique, 2 flap palatoplasties were performed for palatal repairs; all of the lips were repaired with the Millard II rotation-advancement technique. RESULTS: The authors experienced no perioperative or postoperative life-threatening complications. With respect to the registered operation periods, longer times were required to perform these double operations, but this elongation is shorter than the sum of the periods if the 2 operations had been performed separately. Although the authors were unable to evaluate the late postoperative results because the authors could not follow-up the patients after they were discharged the day after surgery, the early results related to the success of the operation without any surgical complication were prone to meet the parents' and patients' expectations. DISCUSSION: The authors presented their experiences with many volunteer cleft lip and palate trips to third world countries; however the structure of this article is not a new hypothesis and data based to support a scientific study, but observations are objective to get a conclusion. To perform one-stage definitive repair of the cleft lip and palate in late-presented patients was the reality that they had only 1 chance to undergo these operations. According to the terms and conditions of this challenging operation, one-stage simultaneous repair of cleft lip and palate is a more demanding and time-consuming procedure than is isolated cleft lip repair or cleft palate repair. Although technically challenging, single-stage repair of the whole deformity in late-presenting patients is a feasible, reliable, successful, and safe procedure in authors' experience.

Correction of Brassiere Strap Grooves with Fat Injections.

BACKGROUND: The size and weight of hypertrophied breast can cause both physical and psychological problems. Although the majority of these problems can be solved with breast reduction surgery, the particular problem of development of brassiere strap grooves on the shoulders due to the weight of the breasts cannot be corrected with this method. OBJECTIVES: Breast reduction surgery focuses only on the increased dimensions of breasts: fullness of the thoracic wall lateral to the breasts, as well as the appearance of brassiere strap grooves, need to be taken into consideration to obtain a better upper body image. Therefore, we present a series of 10 female patients who were treated with fat injections for the correction of brassiere strap grooves. METHODS: Reduction mammaplasty and fat injections into the brassiere strap grooves were performed during the same session. RESULTS: Dramatic changes are obtained with judicious placement of fat into the bra strap grooves. CONCLUSIONS: A more aesthetic and harmonious look can be obtained with using these combined aesthetic procedures in appropriately selected patients. LEVEL OF EVIDENCE: 4 Therapeautic.