Publications by authors named "Ferhat Guzel"

Article Synopsis
  • - The study focused on cardiovascular disease (CVD) risk in patients with familial Mediterranean fever-associated AA amyloidosis (FMF-AA), specifically comparing those with the M694V mutation (Group 1) to those with other genotypes (Group 2).
  • - Results showed that Group 1 exhibited significantly lower flow-mediated dilatation (FMD), indicating poorer endothelial function, and higher levels of carotid intima-media thickness (cIMT), fibroblast growth factor 23 (FGF23), and pentraxin-3 (PTX3), suggesting a higher risk of future CVD.
  • - The findings indicate a clear genotype-phenotype relationship, where homozygosity for the M694
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Behçet's disease (BD) is a polygenic condition with a complex immunopathogenetic background and challenging diagnostic and therapeutic concepts. Advances in genomic medicine have provided intriguing insights into disease pathogenesis over the last decade, especially into monogenic mimics of BD. Although a rare condition, paediatric BD should be considered an important differential diagnosis, especially in cases with similar phenotypes.

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The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF.

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Background: During the last decade, remarkable progress with massive sequencing has been made in the identification of disease-associated genes for AIDs using next-generation sequencing technologies (NGS). An international group of experts described the ideal genetic screening method which should give information about SNVs, InDels, Copy Number Variations (CNVs), GC rich regions. We aimed to develop and validate a molecular diagnostic method in conjunction with the NGS platform as an inexpensive, extended and uniform coverage and fast screening tool which consists of nine genes known to be associated with various AIDs.

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Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with four affected patients.

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