Turk J Med Sci
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Autosomal recessive polycystic kidney disease is an inherited kidney disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using next-generation sequencing (NGS) and to classify them in terms of being pathogenic according to The American College of Medical Genetics and Genomics. ⋯ This fast and economical molecular diagnostic approach will provide a reliable prenatal diagnostic option, enabling definitive disease diagnosis and the identification of carriers.
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Although high muscle strength worsens the sense of force, it is unknown whether there is a relationship between this deterioration and the underlying molecular mechanisms. This study examined the relationship between decreased force sense (FS) acuity and strength-related gene expressions. ⋯ The time points of gene expression levels during exercise need to be considered. The force acuity of those whose maximal force develops too much may deteriorate.
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Uterine leiomyosarcomas (uLMS) are extremely rare high-grade tumors with a poor prognosis. Their etiopathogenesis remains largely unknown. The uterus is the most frequent site for LMS. uLMS and uterine leiomyoma (uLM) must frequently be differentiated in patients with a uterine mass. Nicotinamide N-methyltransferase (NNMT), a cytoplasmic protein, is involved in the progression and spread of a variety of cancer types. The expression of NNMT in a mesenchymal malignancy was not examined previously. This study represents the first investigation into NNMT expression in uLMS, uLM and benign uterine myometrium and correlates NNMT overexpression with worse prognosis in uLMS. ⋯ NNMT can aid in the preoperative differentiation of uLMS and uLM. The consequences of NNMT overexpression, such as the activation and inactivation of oncoproteins and tumor suppressor proteins, respectively, as well as the enrichment of the cancer stem cell population, overlap with the major mechanisms responsible for poor prognosis in mesenchymal tumors. NNMT may be investigated further in the context of antitumor treatment in patients with mesenchymal malignancies.
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Despite Türkiye's relatively young population, there is an emerging trend of earlier diagnoses of chronic diseases, including heart failure (HF). This study aims to shed light on survival rates, potential influences of guideline-directed therapies, and sex-based differences necessitating personalized management in HF. ⋯ The survival rate of HF in Türkiye is similar to world data. The survival of female patients is better than that of male patients. Increased survival rates can likely be attributed to the widespread use of guideline-directed therapies. Finally, high healthcare utilization is observed, especially in emergency situations.
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Effective management of heart failure involves evidence-based use of multiple medications and their combinations. Furthermore, dosage escalation of the recommended medications is advised. In cases of advanced heart failure, long-term mechanical assistance devices or heart transplantation surgery may be necessary. Socio-economic disparities create unequal opportunities for people to access these treatments.The study aimed to analyze and compare medical and advanced heart failure treatments recommended by guidelines across various regions in Türkiye. ⋯ The use of guideline-directed medical therapy is not optimal in Türkiye and varies across different geographical regions. It is a fact that heart transplant or LVAD surgery, CRT, and ICD implantation rates in Türkiye are significantly lower than those in developed countries, regardless of geographical region.