Publications by authors named "E Nazlı Gonc"
Article Synopsis
- Fanconi anemia (FA) is a genetic condition leading to bone marrow failure, and while hematopoietic stem cell transplantation (HSCT) can provide long-term survival, patients face ongoing health challenges after treatment.
- A study of 36 FA patients who had undergone HSCT showed significant long-term issues, including hormonal imbalances, growth impairments, and signs of metabolic syndrome, highlighting the need for better follow-up care guidelines.
- Key findings included gonadal dysfunction in 35% of patients, pulmonary function issues in nearly half, and a small percentage developing secondary cancers, emphasizing the importance of addressing late effects of HSCT in FA survivors.
Article Synopsis
- This study focuses on 17α Hydroxylase/17,20 Lyase Deficiency (17OHD), a rare form of adrenal hyperplasia, highlighting its clinical features such as delayed puberty and hypertension commonly diagnosed in late adolescence.
- Researchers analyzed data from 97 cases across the country, revealing that hypertension was present in 65% and hypokalemia in 34% of patients, with a significant number requiring antihypertensive treatment.
- The findings suggest that early diagnosis can be guided by hypertension and hypokalemia, while the final heights of patients generally fall within normal ranges, though the connection between genetic mutations and clinical outcomes remains unclear.
Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3; MIM*134,934), is the most prevalent and most readily identifiable cause of disproportionate short stature that is compatible with life. In addition, individuals with achondroplasia face significant medical, functional, and psychosocial challenges throughout their lives. This study assessed associated morbidities in patients with achondroplasia at a single center in Turkey.
View Article and Find Full Text PDFIntroduction: Calcineurin inhibitors (CNIs) are widely used in transplantation. Although CNI-related hyperkalemia is common (10%-60.6%), the underlying pathogenetic mechanism is not well-elucidated and may lead to dose adjustment or treatment withdrawal.
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