Scopus İndeksli Açık & Kapalı Erişimli Yayınlar

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Author: search.filters.author.Alkan, Ozlem

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    Case Report First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
    (2021) Orgun, Leman Tekin; Besen, Seyda; Sangun, Ozlem; Bisgin, Atil; Alkan, Ozlem; Erol, Ilknur
    Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Since the first identification of the MYORG gene in 2018, 74cases of MYORG variants related to AR-PFBC were evaluated. The ages of symptom onset of the patients ranged between 7.5 and 87 years. The most frequent clinical courses were speech impairment, movement disorder and cerebellar signs. All patients showed basal ganglia calcification usually bilaterally with different severities. Conclusion; herein, we reported the first pediatric patient in the literature who had a novel homozygous variant in the MYORG gene with mild clinic findings. (c) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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    EVALUATION OF EPICARDIAL FAT AND CAROTID AND FEMORAL INTIMA-MEDIA THICKNESSES IN GERIATRIC PATIENTS WITH END-STAGE RENAL DISEASE
    (2020) Gunesli, Aylin; Yilmaz, Mustafa; Yalcin, Cigdem; Tekkarismaz, Nihan; Alkan, Ozlem; 0000-0002-2557-9579; 0000-0001-5483-8253; 0000-0001-7631-7395; S-6973-2016; AAM-4284-2021; AAD-9088-2021
    Introduction: Although atherosclerotic cardiovascular diseases and cardiovascular risks are known to increase in patients with end-stage renal disease, it is not clear whether these risks increase in the geriatric patient population as well. This study aims to evaluate these risks in geriatric patients with end-stage renal disease by evaluating epicardial fat and carotid and femoral intima-media thicknesses, known as markers, for subclinical atherosclerosis and cardiovascular risks. Materials and Methods: This cross-sectional study included 52 patients who started to receive chronic hemodialysis treatment after the age of 65 years (mean age 73.92 +/- 5.63) years with end-stage renal failure and 51 healthy volunteers (mean age: 74.49 +/- 4.63 years). Epicardial fat and carotid and femoral intima-media thicknesses were measured and compared between these groups. Results: Carotid intima-media and epicardial fat thicknesses were significantly higher in the patient group than in the control group (0.91 +/- 0.08 vs. 0.71 +/- 0.1 mm, p<0.001 and 0.84 +/- 0.17 vs. 0.75 +/- 0.17 cm, p=0.01, respectively). However, no significant difference was observed in femoral intima-media thickness between the two groups (0.58 +/- 0.07 vs. 0.56 +/- 0.97 mm, p=0.266). Correlation analysis revealed a significant positive correlation between the duration of dialysis and epicardial fat and carotid intima-media thicknesses (r=0.611, p<0.001 and r=0.337, p=0.015, respectively). Furthermore, regression analysis revealed a significant relationship between the duration of dialysis and carotid intima-media thickness (beta=0.657, p=0.001). Conclusion: Epicardial fat and carotid intima-media thicknesses increase in geriatric patients with end-stage renal disease but with no significant changes in femoral intima-media thickness, indirectly suggesting that subclinical atherosclerosis and cardiovascular risks are increased in these patients.