Publications by authors named "Abdulbaki Yildirim"
Recurrent pregnancy loss is a phenomenon caused by many etiologies. The majority of these causes are chromosomal anomalies. In this case report, cytogenetic analysis was performed on the family who consulted our department with the complaint of recurrent pregnancy loss.
View Article and Find Full Text PDFAlström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the () gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age.
View Article and Find Full Text PDFThe pandemic caused by the worldwide spread of the coronavirus, which first appeared in 2019, has been named coronavirus disease 19 (COVID-19). More than 4.5 million deaths have been recorded due to the pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), according to the World Health Organization.
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- Imatinib mesylate is the leading treatment for chronic myeloid leukemia, but patients can develop resistance due to mutations in the BCR/ABL region.
- The study evaluated 124 patients using pyrosequencing from 2015 to 2020, discovering a resistance rate of 4.03% overall, which increased to 15.6% among patients with a partial response to the treatment.
- Next-generation sequencing (NGS) was also used on 15 resistant patients, revealing one case with a Variant of Uncertain Significance, highlighting the study's focus on assessing mutation detection methods and their clinical implications.