Publications by authors named "P Ata"
Objective: This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and to examine the correlation between genotype and phenotype.
Materials And Methods: Herein we had 18 patients who were admitted to pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber's classification, the patients' clinical presentations were categorized as mild, moderate, and severe.
Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia or PHEX gene variant is the most frequent cause of HH, recent advances in next-generation sequencing (NGS) techniques enable the identification of genetic etiologies as a whole.
Objective: To identify genetic causes of HH using various genetic testing methods and to compare clinical features between FGF23-dependent and FGF23-independent HH groups.
Introduction: Pulmonary exacerbations increase the requirement of aminoglycoside (AG) antibiotics in people with cystic fibrosis (pwCF). Several studies have shown that AGs have a cumulative effect on ototoxicity. We aimed to investigate the relationship between AG exposure and ototoxicity by using 3 different methods in patients with CF.
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- Genetic variants in the CFTR gene cause cystic fibrosis (CF), and this study explores the genotypic and phenotypic diversity of CF in patients at a major CF center in Turkey.
- The analysis involved 481 individuals, revealing 136 different CFTR variants and identifying novel variants specific to the Turkish population, indicating unique genetic characteristics compared to averages in the US and Europe.
- The findings emphasize the importance of comprehensive genetic profiling in diverse populations to improve personalized treatment for CF, especially in light of new CFTR modulators.
Article Synopsis
- * A five-and-a-half-year-old girl with SIOD presented with symptoms like short stature, facial differences, and abnormal blood levels, but initial genetic tests did not identify a pathogenic variant.
- * Further investigation revealed a new genetic mutation associated with SIOD, and this case introduced novel clinical features (hypercalcemia, hypophosphatemia, and elevated FSH) previously unreported in SIOD patients, highlighting the complexity and variability of the disorder.