Publications by authors named "Gulin Tabanlı"
A rare case of skeletal dysplasia: biallelic variant in gene.
J Pediatr Endocrinol Metab
December 2024
Article Synopsis
- SEMD-ACAN is a rare genetic disorder caused by mutations in the ACAN gene, leading to problems in cartilage development and resulting in short stature and various skeletal abnormalities.
- A case study of a 9-year-old girl illustrated severe growth retardation, distinct facial features, and other skeletal issues, alongside her brother who had milder symptoms.
- The findings emphasize the need for genetic testing in patients displaying symptoms of SEMD-ACAN, as early diagnosis can help understand and manage the condition better.
Objective: Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was to assess the relationship between AGEs and the microvascular complications of children and adolescents with type 1 diabetes mellitus (T1DM).
Materials And Methods: Twenty-six T1DM patients with microvascular complications and 58 complication-naive patients who were similar regarding age, sex, and pubertal status enrolled in the study.