5 research outputs found

    Karaciğer kist hidatiğine laparoskopik cerrahi yaklaşım: Retrospektif çalışma

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    Karaciğer kist hidatiğinin tedavisinde laparoskopik yaklaşım, giderek önem kazanmakla birlikte, uzun dönem sonuçları alınmadığından halen tartışılmaktadır. Bu yazıda, kliniğimizde 1997-2002 yılları arasında laparoskopik cerrahi uyguladığımız 14 karaciğer kist hidatik olgusunu retrospektif olarak değerlendirdik. Sonuç olarak; karaciğer kist hidatiğinin cerrahi tedavisinde laparoskopik drenaj ve marsupiyalizasyonun oldukça güvenli ve etkin bir yöntem olduğu sonucuna ulaştık.However laparoscopic approach to treatment of hydatid cyst of liver gets more important increasingly, it's stili equivocal since long-term results have not been reported. in the present report, we evaluated 14 liver hidatid cyst cases that we treated with laparoscopic surgery between 1997 and 2002 years. As a result, we found that laparoscopic drainage and marsupalization is a fairly safe and effective method for surgical treatment of cyst hidatid of liver

    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye

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    Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower
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