Yazar "Edem, Pinar" seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • Küçük Resim
    Öğe
    CAV-3-related age-dependent muscle diseases: A novel mutation in mother and son
    (Asean Neurological Assoc, 2023) Tekin, Hande; Edem, Pinar
    The caveolin-3 protein encoded by the CAV-3 gene is a muscle-specific protein found in skeletal, smooth, and cardiac muscle. Caveolin-3 defects lead to several muscle diseases: rippling muscle cardiomyopathy, and asymptomatic hyper-CK-emia. While some variants that cause mutations in this gene cause a pure type of disease, some variants may appear as overlap syndromes. Even in the same variants of CAV-3 mutation, the type of muscle disease, its severity, and time of occurrence can be variable. For this reason, it should be known that CAV-3-related diseases and all overlapping diseases can be seen over time, and the patient should be followed up. We report here a 9-yearold boy and his 38-year-old mother who were investigated for asymptomatic hyper-CK-emia and diagnosed with caveolinopathy. The boy had calf hypertrophy and percussion-induced rapid muscle contraction (PIRCs). His mother had calf hypertrophy, contractions due to percussion, and proximal muscle weakness. Mother's proximal muscles and m. gastrocnemius magnetic resonance imaging (MRI) was normal. The mother had complaints of weakness, showing slow progression starting from the second decade. Heterozygous (ENST000003cav3849.2) c.298A>T p.Ile100Phe variant in exon 2 was detected in the CAV-3 gene. This mutation is classified as pathogenic according to The American College of Medical Genetics and Genomics (ACMG) criteria (PM1, PM2, PP3, PM5). In conclusion, calves' pseudohypertrophy and mildly raised CK without weakness can be the initial presentation of caveolinopathy. Percussion-induced muscle contractions, rather than muscle rippling, can occur at a young age. The onset of muscle weakness can be delayed during adolescence and can have a slowly deteriorating course associated with myalgia.
  • Küçük Resim
    Öğe
    Clinical and Electrophysiological Prognostic Factors of Childhood Absence Epilepsy
    (Galenos Yayincilik, 2021) Tekin, Hande Gazeteci; Karaoglu, Pakize; Edem, Pinar
    Aim: Childhood absence epilepsy is common idiopathic epilepsy in childhood. This epilepsy, which has been shown to impair cognition, needs to be treated promptly and correctly. Therefore, determining its prognostic factors before treatment can provide prediction on the duration of treatment, drug selection, and drug dosage. Materials and Methods: The electroencephalography (EEG) and clinical findings of patients diagnosed with childhood absence epilepsy who were monitored for at least 12 months in the pediatric neurology clinics of two university hospitals between 2016 and 2020 were reviewed retrospectively. The patients were divided into two groups as responsive and unresponsive, according to seizures, EEG findings, and recurrent seizures after treatment. The epidemiological and clinical features of the two groups were compared. Results: Sixty-three patients who were diagnosed with childhood absence epilepsy according to the Panayiotopoulos criteria participated in this study. Thirty-nine (62%) of the patients were responsive to treatment (group 1), the remaining 24 patients (38%) (group 2) were unresponsive to treatment. Fifteen patients were valproate resistant, and nine patients relapsed after drug treatment withdrawal in group 2. The mean age of the patients was 7.87 +/- 1.68. The mean follow-up period was 29.1 +/- 13.6 (13-72 months) months. The mean age was tower in the responsive group of patients. The time between the onset of seizures and treatment was significantly longer in group 2. The number of patients with occipital intermittent rhythmic delta activity (OIRDA) in the responsive group was higher. A significant difference was found in the number of spike-slow wave complex and the amplitude of discharges between the two groups. Conclusion: In this study, it was seen that young age was an advantage for treatment response. Early initiation of treatment and OIRDA were good prognostic factors, while high amplitude and numerous discharges were among the poor prognostic factors.
  • Küçük Resim
    Öğe
    Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome
    (Elsevier, 2022) Tekin, Hande Gazeteci; Edem, Pinar; Ozyilmaz, Berk
    Background: Mutations in the cytoplasmic dynein 1 heavy chain gene (DYNC1H1) have been associated with spinal muscular atrophy with predominant lower extremity involvement (SMA-LED), Charcot-Marie-Tooth 2O (CMT2O) disease, cortical migration anomalies, and autosomal dominant mental retardation13. SMA-LED phenotype-related mutation was found in the DYNC1H1 gene in the patient who applied with the complaint of gait disturbance.Methods: Pathogenic heterozygous c.1678G > A (p.Val560Met) mutation was detected in the DYNC1H1 gene by next generation targeted gene analysis in the patient who had no phenotypic findings except delayed motor milestones, lumbar lordosis, and lower extremity muscle weakness. The patient's creatinine phosphokinase enzyme level and brain magnetic resonance imaging (MRI) were normal. Electromyography (EMG) had pure motor findings.Conclusion: It should be kept in mind that DYNC1H1 mutation, which we are accustomed to seeing with accompanying findings such as orthopedic and ocular dysmorphic findings, sensorineural EMG findings, and intellectual disability, can also observe with pure motor findings such as muscular dystrophy examination findings. (c) 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.