Browsing by Author "Bayrakli, Fatih"

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A Novel Heterozygous Deletion Within the 3′ Region of the Pax6 Gene Causing Isolated Aniridia in a Large Family Group
(Elsevier Sci Ltd, 2009) Bayrakli, Fatih; Guney, Ilter; Bayri, Yasar; Ercan-Sencicek, Adife Gulhan; Ceyhan, Dogan; Cankaya, Tufan; Gunel, Murat
Paired box gene 6 (PAX6) is the causative gene of aniridia. it is a dominantly inherited eye abnormality characterized by partial or complete absence of the iris. The PAX6 gene is located on chromosome 11 p13 and contains 14 exons. It is expressed mainly in the developing eye and central nervous system. Submicroscopic copy number variations are common in the human genome. Submicroscopic deletions may cause several human diseases, either by disrupting coding sequences or by eliminating regulatory elements essential for expression of the gene in question. Over the past several years, array-based comparative genomic hybridization has become an increasingly useful too] for both identifying normal cytogenetic variations and characterizing chromosomal abnormalities associated with developmental delays and cancer. Our results support the notion that assessing copy number variation of the PAX6 gene itself and also of flanking regions, may contribute to the molecular diagnosis of aniridia. (C) 2009 Elsevier Ltd. All rights reserved.
Unilateral Laminotomy for Decompression of Lumbar Stenosis Is Effective and Safe: a Prospective Randomized Comparative Study
(Journal Neurological Sciences, 2012) Gurelik, Mustafa; Bozkina, Cemal; Kars, Zafer; Karadag, Ozen; Ozum, Unal; Bayrakli, Fatih
Objective: The purpose of this study is to determine the efficacy and safety of unilateral laminotomy for decompression of lumbar stenosis (LS). Although minimally invasive procedures are gaining increasing popularity in the treatment of spinal disorders, minimally invasive techniques are not standard in the surgical treatment of lumbar stenosis yet. Methods: Fifty-two consecutive patients with lumbar stenosis were randomized to two treatment groups (unilateral laminotomy for decompression-Group 1, decompressive laminectomy-Group 2). Maximum walking distance (MWD), Oswestry Disability Index (ODI), spinal MRI and CT, and flexion-extension radiography were used to assess clinical outcome, adequacy of decompression and postoperative instability. Results: Excellent-good clinical outcome was obtained in 88% of patients in Group 1 and in 69% of patients in Group 2. Increase in MWD and dural sac area after surgery were adequate in both groups. Postoperative spinal instability occurred in five patients in Group 2, none in Group 1. There was no surgical complication in the groups. Conclusions: Unilateral laminotomy for decompression is an effective and safe technique for treatment of LS. This technique ensures adequate decompression and good clinical outcome. It does not cause spinal instability.