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Genetic polymorphisms play a crucial role in regulating the physiological mechanisms underlying athletic performance, including muscle structure, energy metabolism, and cognitive functions. In recent years, increasing attention has been directed toward genetic variants that may influence cognitive traits such as motivation, stress tolerance, and attention, which are critical for optimal athletic performance. The present study aimed to provide the first preliminary meta-analysis of the association between athlete status and specific candidate polymorphisms related to cognitive processes (COMT rs4680, BDNF rs6265, OPRM1 rs1799971, and APOE rs7412/rs429358). A total of 17 case-control studies meeting the inclusion criteria were retrieved from relevant databases and included in the analysis. Statistical evaluations were performed using random- and fixed-effects models with a 95% confidence interval. The results indicated a potential association between the COMT Val158Met polymorphism and athlete status in both the overall and power athlete subgroups (p < 0.05). In contrast, no significant associations were observed for BDNF rs6265, OPRM1 rs1799971, or APOE rs7412/rs429358. However, this finding is based on a small number of studies and must be interpreted as exploratory. While this preliminary meta-analysis highlights a significant evidence gap, it also underscores, due to methodological limitations, the need for further empirical studies to understand the potential role of these polymorphisms in athlete status. Show less

Identifying quality-of-life (QoL) subgroups can optimize occupational therapy interventions for stroke survivors. To identify clusters among stroke survivors on the basis of perceived QoL using latent profile analysis (LPA). Cross-sectional study using LPA to classify QoL levels among stroke survivors and multinomial logistic regression to identify predictors. Hospital and university clinic. A total of 696 adult stroke survivors age 18 yr or older. Eligible participants were literate and had a Mini-Mental State Examination score of 23 or higher, excluding those with speech disorders or additional chronic neurological, psychiatric, or cognitive conditions. The participants were evaluated with the Stroke Impact Scale (SIS), Barthel Index, and the Impact on Participation and Autonomy Questionnaire (IPA). LPA was applied to the SIS data. Three latent classes were identified: high QoL (n = 232), moderate QoL (n = 322), and low QoL (n = 142). Participants in Class 2 (high QoL) demonstrated higher functional outcomes, whereas those in Class 3 (low QoL) displayed the lowest scores across all scales. Predictors of class membership included age, gender, social relationships, and education level. LPA effectively identified subgroups among stroke survivors, supporting tailored interventions in occupational therapy to improve rehabilitation outcomes. Further research is recommended to validate these findings in diverse populations. Plain-Language Summary: This study explored quality of life among stroke survivors. Three groups were identified: those with high, moderate, and low quality of life. Factors such as age, social relationships, and education level influenced quality of life after stroke. These findings can help occupational therapists create personalized care plans to support survivors in recovery, focusing on social connections, autonomy, and daily activities. Show less

Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS type 1 (TRPS1) is caused by pathogenic variations in the TRPS1 gene, which relates to the vast majority of cases. TRPS type 2 (TRPS2) is a contiguous gene deletion syndrome involving loss of functional copies of the TRPS1, RAD21, and EXT1. Herein, we reported the clinical and genetic spectrum of seven TRPS patients with a novel variant. We also reviewed the musculoskeletal and radiological findings in the literature. Seven Turkish patients (three female, four male) from five unrelated families aged between 7 to 48 years were evaluated. The clinical diagnosis was confirmed by either molecular karyotyping or TRPS1 sequencing analysis via next-generation sequencing. Both TRPS1 and TRPS2 patients had some common distinctive facial features and skeletal findings. All patients had a bulbous nose with hypoplastic alae nasi, brachydactyly, short metacarpals and phalanges in variable stages. Low bone mineral density (BMD) was identified in two TRPS2 family members presenting with bone fracture, and growth hormone deficiency was detected in two patients. Skeletal X-ray imaging revealed cone-shaped epiphysis of the phalanges in all, and multiple exostoses were present in three patients. Cerebral hamartoma, menometrorrhagia and long bone cysts were among the new/rare conditions. Three pathogenic variants in TRPS1 were identified in four patients from three families, including a frameshift (c.2445dup, p.Ser816GlufsTer28), one missense (c.2762G > A), and a novel splice site variant (c.2700+3A > G). We also reported a familial inheritance in TRPS2 which is known to be very rare. Our study contributes to the clinical and genetic spectrum of patients with TRPS while also providing a review by comparing with previous cohort studies. Show less