Person: ÜNVER, OLCAY
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ÜNVER
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OLCAY
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Publication Metadata only The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study(PERGAMON-ELSEVIER SCIENCE LTD, 2016) TÜRKDOĞAN, DİLŞAD; Unver, Olcay; Hacifazlioglu, Nilufer Eldes; Karatoprak, Elif; Gunes, Ayfer Sakarya; Sager, Gunes; Kutlubay, Busra; Sozen, Gulhan; Saltik, Sema; Yilmaz, Kutluhan; Kara, Bulent; Turkdogan, DilsadThe aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid alpha-glucosidase (GAA) activity Was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered. (C) 2016 Published by Elsevier B.V.Publication Metadata only Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31(SPRINGER, 2015) DAĞÇINAR, ADNAN; Bayri, Yasar; Soylemez, Burcak; Seker, Askin; Yuksel, Sirin; Tanrikulu, Bahattin; Unver, Olcay; Canbolat, Cagri; Sakar, Mustafa; Kardag, Ozen; Yakicier, Cengiz; Dagcinar, Adnan; Ziyal, Ibrahim; Bayrakli, FatihMeningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.Publication Metadata only Gomez-Lopez-Hernandez Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia(WILEY, 2015) EKİNCİ, GAZANFER; Saricam, Merve Hatun; Tekin, Burak; Unver, Olcay; Ekinci, Gazanfer; Ergun, TulinGomez-Lopez-Hernandez syndrome is a rare neurocutaneous disorder characterized by the triad of rhombencephalosynapsis, parietal alopecia, and trigeminal anesthesia. We report a 16-year-old girl with bilateral parietotemporal alopecia in whom cranial magnetic resonance imaging revealed rhombencephalosynapsis, suggesting a diagnosis of Gomez-Lopez-Hernandez syndrome. Neurologic examination and neuroimaging may be warranted in select patients with parietal alopecia to exclude this uncommon entity.