Publications by authors named "N Hatipoglu"
Unlabelled: Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated.
View Article and Find Full Text PDFMultisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.
View Article and Find Full Text PDFEvaluation of Growth Characteristics and Final Heights of Cases Diagnosed with Noonan Syndrome on GH Treatment.
J Clin Res Pediatr Endocrinol
October 2024
Introduction: Proportional short stature is one of the most important features of Noonan Syndrome, and adult height often remains below the 3rd percentile. Although the pathophysiology of short stature in NS patients is not fully understood, it has been shown that GH treatment is beneficial in NS, and it significantly improves the height in respect to the results of short and long-term GH treatment.
Methods: In this study, the efficacy of GH therapy was evaluated in children and adolescents with Noonan syndrome who attained final height.
Article Synopsis
- In Turkey, a single-dose varicella vaccine was introduced in February 2013, aiming to reduce hospitalizations related to chickenpox among children under 18 years old.
- A study analyzed hospitalization data from 2008 to 2018, comparing rates before and after the vaccine's introduction, finding a significant decrease in hospitalizations (3.79 to 2.87 per 100,000 children per year).
- The most notable reduction was in children aged 1-5 years, with a 60.2% drop in hospitalizations post-vaccine, demonstrating the vaccine's effectiveness in preventing severe cases of varicella.
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.