Publications by authors named "Ceren Ayca Yıldız"
Background: Our study aimed to identify the social domains that pose the greatest barriers to managing and supporting pwCF, particularly in relation to income levels.
Methods: To identify associations between income and health outcomes in pwCF in our center the shorter form of the survey "Your Current Life Situation" (YCLS) was used in face-to-face interviews. Participants were also asked to complete the validated Turkish versions of the 9-item Patient Health Questionnaire (PHQ-9) and the 7-item Generalized Anxiety Disorder scale (GAD-7) to assess depression and anxiety, respectively.
Article Synopsis
- 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
- - Cystic fibrosis (CF) is caused by mutations in the CFTR gene, with over 2000 identified variants, and new drugs called CFTR modulators are only effective for patients with specific variants, leading to disparities in access based on race and location.
- - A study at Marmara University reviewed 445 CF patients, finding that 31.2% were ineligible for CFTR modulators, identifying 60 different variants, most of which were missense or nonsense types, with c.1545_1546del being the most common in that region.
- - The research emphasizes the need for detailed genetic testing of CF patients who can't use current drugs, suggesting that new strategies must be developed to ensure all patients
Objective: Williams syndrome is caused by a microdeletion at 7q11.23 and is characterized by a distinctive face, cardiovascular disease, and intellectual disability with a specific cognitive and behavioral profile. This study aims to evaluate the clinical features and obtain important information that can guide early diagnoses and correct follow-up.
View Article and Find Full Text PDFAcromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently, biallelic PRKG2 variants have been reported to cause a new type of AMD. We detected biallelic novel variant (c.
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