Amyloidosis: Diagnosis, Treatment, Outcomes

APOL1 variants are associated with HIV-associated nephropathy and FSGS in African Americans. The prevalence of these variants in African populations with CKD in HIV-1 infection has not been investigated. We determined the role of APOL1 variants in 120 patients with HIV-associated nephropathy and CKD and 108 controls f…

• EFE SEZGİN

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, mol…

Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrot…

• FATİH ÖZALTIN

OBJECTIVES: Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identifie…

• ATİLLA HALİL ELHAN

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• SACİT KARAMÜRSEL

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• ALİ ELİTOK

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• ŞULE ŞENGÜL

Baló's concentric sclerosis (BCS) is a rare demyelinating disease considered to be a variant of multiple sclerosis. Five BCS cases were diagnosed antemortem based on their typical concentric mass patterns on MR images and based on clinical and CSF findings. Histopathologic investigation was also performed in one case.…

• ALP DİNÇER

OBJECTIVE: The primary aim of this study was to investigate the prevalence of amyloidosis and its related factors in a large number of FMF patients. METHODS: Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questio…

• HAKAN EMMUNGİL

OBJECTIVE: The primary aim of this study was to investigate the prevalence of amyloidosis and its related factors in a large number of FMF patients. METHODS: Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questio…

• FATİH YILDIZ

OBJECTIVE: The primary aim of this study was to investigate the prevalence of amyloidosis and its related factors in a large number of FMF patients. METHODS: Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questio…

• GÖZDE YILDIRIM ÇETİN

OBJECTIVE: The primary aim of this study was to investigate the prevalence of amyloidosis and its related factors in a large number of FMF patients. METHODS: Fifteen centres from the different geographical regions of Turkey were included in the study. Detailed demographic and medical data based on a structured questio…

• GÖZDE YILDIRIM ÇETİN
• KENAN AKSU