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    A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype
    (Oxford Univ Press, 2022) Cokyaman, Turgay; Cetin, Huriye; Dogan, Durmus; Silan, Fatma
    NARS2 mutations are known to cause various clinical phenotypes such as nonsyndromic hearing loss, Leigh/Alpers syndrome, refractory epilepsy, developmental delay, intellectual disability and myopathy. We presented the first Turkish variant of NASR2 and added type 1 diabetes mellitus (DM), which was not previously described in the phenotype spectrum of this disease. A 4.5-month-old girl presented with hearing loss, hypotonia, refractory myoclonic epilepsy, severe developmental delay and large subdural hemorrhage. In the first year of the follow-up, type 1 DM developed. A homozygous missense mutation, [c.500 A>G, p.H167R] in the NARS2 gene was detected in the trio-based whole-exome sequencing (WES). In this disease, in addition to multi-organ involvement, type 1 DM may also develop, as in our case. Since it is a mitochondrial disease, the decision to treat with valproic acid should be reconsidered. The long diagnostic process can be shortened with WES.
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    Öğe
    Pediatric vestibular migraine: Diagnosis according to ICHD-3 criteria and the effectiveness of short-term CH prophylaxis
    (Elsevier Sci Ltd, 2022) Cokyaman, Turgay; Cetin, Huriye
    Objective: Vestibular migraine (VM) is a rare migraine variant with limited information about its treatment in children. This study, it was aimed to evaluate the diagnostic characteristics of VM in children and the effectiveness of cyproheptadine hydrochloride (CH) prophylaxis. Methods: Patients aged 6-18 years who were diagnosed with VM and other primary headaches (OPHs) according to ICHD-3 diagnostic criteria and given oral CH prophylaxis for at least 3 months were included in the study. Response to CH prophylaxis was defined by the change in symptoms (worsening, no change, and improvement) monthly. Results: A total of 64 cases diagnosed with primary headache and given CH prophylaxis were identified. 40.6% (29) migraine without aura of patients, 34.4% (22) VM, 14.1% (9) tension type headache, 4.7% (3) benign paroxysmal vertigo, 3.1% (2) migraine with aura and 3.1% (2) were diagnosed with abdominal migraine. Compared to OPHs, it was found that the duration of headache attack was shorter (p .013) and vomiting, which is one of the associated symptoms, was observed less in pediatric VM (p .032). The positive response of the whole study population to CH prophylaxis was 85.9%. However, CH prophylaxis responses were higher in VM compared to OPHs at the end of 1 month (63.6%) and 2 months (86.3%). Conclusion: In the pediatric population, the migrainous characters of VM may show differences, but its response to short-term CH prophylaxis is quite good.