Publications by authors named "E Atli"
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Balkan J Med Genet
December 2024
Background: Male infertility is a complex pathophysiological disorder. At least 2000 genes are implicated in the etiology of male infertility, making it a very complex genetic condition. In cases of male infertility, genetic testing using next-generation sequencing (NGS) technology may be useful for diagnosis.
View Article and Find Full Text PDFPrevalence of left kidney vein entrapment signs on computed tomography angiography images of kidney donors.
Folia Morphol (Warsz)
November 2024
Article Synopsis
- The Nutcracker phenomenon (NC-P) involves the entrapment of the left kidney vein between major blood vessels and can cause significant compression.
- In a study of 131 healthy patients who underwent kidney donation, 2.3% experienced severe and 19.8% moderate stenosis of the left renal vein.
- Results indicated that younger patients and females with a lower BMI were more likely to show signs of NC-P, suggesting a need for updated classification standards based on sex, age, and BMI to better evaluate LKV compression.
Article Synopsis
- Hearing loss affects people of all ages and can be caused by various factors, with 50% of cases linked to genetic mutations; identifying these variants is crucial for diagnosis.
- The study analyzed 81 targeted genes related to hearing loss in 100 patients using Next-Generation Sequencing, detecting a total of 77 variants, including 47 classified as likely pathogenic.
- Findings emphasize the importance of early genetic detection in understanding hearing loss causes, aiding diagnosis, and improving clinical recommendations, such as the use of cochlear implants.
Introduction: Canavan disease is an autosomal recessive disorder that causes accumulation of N-acetyl ASPArtic acid in the brain due to ASPArtoacylase deficiency with homozygous or compound heterozygous pathogenic variants in the gene located on the short arm of chromosome 17. Clinical findings are hypotonia, progressive macrocephaly, deafness, nystagmus, blindness, and brain atrophy.
Case Presentation: A one-year-old female case was evaluated in our medical genetics clinic for hypotonia, nystagmus, and strabismus.
Introduction: Hypospadias is a common malformation of the genitourinary system and is thought with a complex interplay between genetics and environmental factors likely contributing to its pathogenesis. This study aimed to investigate the receptor gene expressions of sex hormones, FGFR2, FGF8 and BMP7 and DNA methylations in these genes as an epigenetic mark, which may play a role in the etiology of hypospadias.
Material And Methods: The samples from the foreskin of 20 patients with hypospadias and 20 healthy children who underwent circumcision operations were collected.