Publications by authors named "Ecenur Tuc Bengur"
The rapid evolution of the field of genetics in the past several years has opened new opportunities for diagnosis of treatment of genetic disorders. However, the limited availability of medical geneticists has led to difficulty in meeting this evolving need. Integrating awareness of genetic disorders and genetic screening into primary care may facilitate early diagnosis, while strategic support and cooperative care between primary care physicians and geneticists can improve long term management.
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- Krabbe disease is caused by a deficiency in galactocerebrosidase, leading to severe neurodegeneration, particularly in infants, and the study aimed to track the disease's progression and the impact of hematopoietic stem cell transplantation (HSCT).* -
- The research involved 137 infants with Krabbe disease over 22 years, comparing outcomes between those who underwent HSCT and those who did not, revealing that early symptoms could include irritability and developmental delays, and overall survival rates varied significantly based on treatment.* -
- Results indicated that while HSCT improved galactocerebrosidase levels and extended lifespan, it couldn't halt the progression of nerve damage, emphasizing the critical need for
Pediatric patients with undiagnosed conditions, particularly those suspected of having Mendelian genetic disorders, pose a significant challenge in healthcare. This study investigates the diagnostic yield of whole-genome sequencing (WGS) in a pediatric cohort with diverse phenotypes, particularly focusing on the role of clinical expertise in interpreting WGS results. A retrospective cohort study was conducted at Acibadem University's Maslak Hospital in Istanbul, Turkey, involving pediatric patients (0-18 years) who underwent diagnostic WGS testing.
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