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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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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Individuals with multiple sclerosis (MS) may experience various speech-related issues, including decreased speech rate, increased pauses, and changes in speech rhythms. The purpose of this study was to compare the volumes of speech-related neuroanatomical structures in MS patients with those in a control group. ⋯ In our study, volume measurements of more speech-related areas were performed, unlike the few related studies previously conducted. We observed significant atrophy findings in the speech-related areas of the frontal, temporal, and parietal lobes of MS patients.
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Extracorporeal blood purification (EBP) therapies have shown promise as potential rescue treatments for patients with septic shock. However, precise evidence regarding their effectiveness is lacking. This case-control study aimed to evaluate the 28-day survival benefit of a resin cartridge-based EBP therapy compared to conventional therapies in patients with septic shock. ⋯ The findings suggest that administering resin cartridge-based EBP therapy to patients with septic shock may improve their survival compared to conventional therapies.
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Video pediatric gait, arms, leg, and spine (v-pGALS) is a virtual application of the pediatric gait, arms, leg, and spine (pGALS) examination performed by video. We aimed to verify the applicability, validity, and accuracy of the Turkish translation of v-pGALS in a large pediatric patient cohort. ⋯ The v-pGALS is an applicable, accurate, and practical tool for evaluating MSK problems in children. The Turkish translation was also conveniently acceptable.