Yazar "Silan, Fatma" seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • [ X ]
    Öğe
    A Comprehensive Diagnostic Assessment of Thyroid Nodules Utilizing Scintigraphy and Telomere Lengths (T/S ratios)
    (Galenos Publ House, 2025) Ozturk, Fulya Koc; Ozdemir, Semra Usta; Karakilic, Ersen; Silan, Fatma
    Objectives: This study aims to evaluate the effectiveness and role of telomere length measurements in leukocytes, plasma free cell DNA (cfDNA), and biopsy cells, along with technetium-99m (Tc-99m) methoxyisobutylisonitrile (MIBI) scintigraphy, as non-invasive methods for diagnosing malignant thyroid lesions. Methods: Data from 128 patients, who underwent ultrasound, Tc-99m MIBI scintigraphy, and fine-needle biopsy with a preliminary diagnosis of malignant thyroid nodules, were analyzed. In 98 patients, telomere lengths in leukocytes (from blood), cfDNA (from plasma), and biopsy cells were measured using the quantitative polymerase chain reaction method, and the relative telomere/single copy gene (T/S) ratio was calculated. Based on cytological examination results, patients were categorized into three groups: malignant, benign, and suspicious. Group differences were analyzed using the Kruskal-Wallis and Chi-square tests, and correlations between variables were examined with Spearman correlation analysis. Results: The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of Tc-99m MIBI scintigraphy for diagnosing malignant thyroid nodules were 64.70%, 79.16%, 29.72%, 83.51%, and 67.96%, respectively. While these results align with the literature, the positive predictive value was notably lower. No significant differences were observed in telomere lengths (T/S ratios) in leukocytes, plasma, or tissue between the groups. Conclusion: Tc-99m MIBI scintigraphy demonstrates reasonable diagnostic accuracy for identifying malignancy in thyroid nodules. Contrary to limited reports, telomere length measurements may not be a reliable method for predicting thyroid malignancy. Larger studies are needed to further explore these findings.
  • [ X ]
    Öğe
    Ailevi Akdeniz Ateşi gen mutasyonu olan çocuklarda makula ve koroid kalınlıkları
    (Yusuf Haydar ERTEKİN, 2018) Battal, Fatih; Aylanc, Hakan; Yildirim, Sule; Ekim, Yeliz; Silan, Fatma; Ozdemir, Ozturk
    Giriş: Bu çalışmanın amacı, MEFV gen mutasyonlu çocuklarda maküla ve koroid kalınlıklarının değerlendirilmesidir.Yöntem: MEFV gen mutasyonlu 35 çocuk ve kontrol grubu olarak 40 sağlıklı çocuk çalışmaya alındı. MEFV gen profilleri Pyrosequencing ve direct Sanger sequencing sekanslama teknikleri ile genotiplendirildi. Her bir hastanın sağ göz maküla ve koroid kalınlıkları spektral-alan optik koherens tomografi kullanılarak ölçüldü.Bulgular: Ortalama arteriolar ve venüler çaplar  sırasıyla MEFV gen mutasyonu olan çocuklarda  95,75±11,98 µm ve  127,61±10,44 µm, kontrol grupta 110,19±11,10 µm ve 138,54±10,04 µm idi. MEFV gen mutasyonu olan çocuklarda sağlıklı kontrollere göre ortalama arteryol çapları (p<0,001), ortalama venüler çapları (p<0,001) daha ince idi ayrıca maküler kalınlık (p=0,016) ve koroid kalınlık (p=0,014) azalmıştı. Sonuç: MEFV gen mutasyonları olan çocuklarda retinal arteriyollerin, retinal venüllerin ve maküler ve koroidal incelmenin olduğu görüldü. Gelecekteki çalışmalar, Ailesel Akdeniz Ateşi olan çocuklarda endotel disfonksiyonunu invazif olmayan ve etkili yöntemlerle araştırmayı amaçlamalıdır
  • [ X ]
    Öğe
    DHCR24-related desmosterolosis in the first reported Turkish patient: Expanding the genotypic and phenotypic spectrum
    (Elsevier Ltd, 2026) Kose, Canan Ceylan; Erdem, Fehime; Akcan, Mehmet Berkay; Yazıcı, Havva; Cokyaman, Turgay; Canda, Ebru Erbaş; Silan, Fatma
    BACKGROUND Desmosterolosis is a ultra-rare autosomal recessive disorder caused by biallelic variants in the DHCR24 gene, which encodes 3-beta-hydroxysterol delta-24-reductase—an enzyme involved in the final step of cholesterol biosynthesis. Here, we report a 3.5-year-old female with previously unreported compound heterozygous DHCR24 variants: c.1412A>G (p.Tyr471Cys), and c.275C>T (p.Thr92Met). CASE PRESENTATION The patient presented with agenesis of the corpus callosum, hypotonia, developmental delay, and dysmorphic facial features. METHOD AND RESULTS Trio-clinical exome sequencing confirmed the trans configuration of the variants. Plasma desmosterol levels were elevated >50-fold (134 ng/L; reference ?2.5 ng/L), supporting the diagnosis. In silico 3D protein modeling demonstrated structural alterations associated with both variants. CONCLUSION A review of reported cases revealed consistent findings of corpus callosum agenesis, developmental delay, and ocular abnormalities. Our case contributes to the limited body of literature on DHCR24 -related desmosterolosis and expands the variant spectrum, emphasizing the importance of integrating clinical, biochemical, and computational approaches in diagnosing rare metabolic disorders. © © 2025. Published by Elsevier Inc.