26 research outputs found

    'Cerebral Palsy' ve Genetik

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    Predictors of successful valproate withdrawal in women with epilepsy.

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    Objective: Valproate (VPA) use was restricted due to its teratogenic risks in women with epilepsy (WWE). We aimed to assess the outcome and predictors of treatment decisions of withdrawal/switch or continuation of VPA in WWE. Methods: We included 214 consecutive WWE with a follow-up time of 9.57 +/- 7.04 years, who have used (n = 142) or are still using VPA (n = 72) during their reproductive ages. The demographic, clinical, and electroencephalography (EEG) properties of WWE who could withdraw (successful withdrawal; n = 142) and could not withdraw VPA (unsuccessful withdrawal; n = 36) were compared statistically

    Automatic Analysis of CMAP Scan Data on Healthy Controls and Motor Neuron Patients

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    #nofulltext# --- Artuğ, Tuğrul (Arel Author)In this study, motor response recordings were acquired from thenar and hypothenar muscles of poliomyelitis survivors, ALS patients and healthy participants by using CMAP Scan method. CMAP Scan curve was plotted by using 500 stimuli between minimum and maximum stimulus intensity. Automatic analysis software was developed with MATLAB for calculating CMAP Scan parameters. Statistical results revealed that step%, D50 and returner% values can differentiate healthy individuals from the patients. The developed software helps clinicians for following up the progression rate of the diseases which cause anterior horn cell degeneration

    Seeing Clowns with a Ring 20 Chromosome

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    Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity. It is often accompanied by electroencephalography (EEG) changes, such as long-lasting slow waves and occasional spikes, primarily over the frontal lobes, as well as focal seizures with visual hallucinations, cognitive impairment, and behavioral problems. Although clinical suspicion, typical EEG abnormalities, and network disorders revealed by functional neuroimaging method aid in diagnosis, karyotyping remains essential. Seizures are typically drug-resistant although some limited success has been reported with certain anti-seizure drugs. In this report, we present the case of a patient with previously frequent drug-resistant NCSE periods characterized by prolonged confusional states and frightening visual hallucinations. Treatment with lacosamide partially decreased the frequency of seizures. In addition, positron emission tomography/computed tomography (PET/CT) imaging revealed hypometabolism in the frontal and parietal regions of the brain. In patients with drug-resistant and early frightening hallucinations, consideration of the ring 20 chromosome anomaly is crucial. PET/CT imaging may demonstrate hypometabolism in the parietal and frontal lobes, potentially associated with the hallucinations and epileptogenesis of the syndrome. Lacosamide may be a viable option for reducing seizures in Ring chromosome 20 syndrome

    JUVENİL MİYOKLONİK EPİLEPSİDE ANATOMİK VE FONKSİYONEL DEĞİŞİKLİKLER: VOKSEL TABANLI MORFOMETRİ VE DİNLENME DURUMU FONKSİYONEL MRG ÇALIŞMASI

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    Amaç:Fotosensitivitesi olan juvenil miyoklonik epilepsi (JME) hastalarında yapısal ve fonksiyonel beyinanormalliklerini araştırmayı amaçladık.Yöntem:Çalışmaya 15i (%50) ışığa duyarlı (JME-FS) olmak üzere 30 JME hastası ve 32 sağlıklı kontrol(SK) dahil edildi. Voksel bazlı morfometri (VBM) analizi için yüksek çözünürlüklü T1 ağırlıklı MRGverileri ve fonksiyonel bağlantı (FC) analizi için dinlenme durumu fonksiyonel MRG verileri alındı.VBM analizlerinde önemli farklılıklar gösteren bölgeler, FS ve ışığa duyarlı olmayan (NFS) JMEalt gruplarından oluşan tüm JME grubu ile SKler arasındaki karşılaştırmalar için FC analizindeilgi alanı olarak kullanıldı. Anlamlı yerel grup farklılıklarının çıkarımı, küme düzeyinde ailevi hataoranı (İng., Family-wise error, FWE) düzeltmesi yapılarak p<0,05 olarak kabul edildi.Sonuçlar:Sol postsentral girusun bilateral orta singulat girus, bilateral suplementer motor alan ve sağsuperior frontal girus ile olan bağlantısallığında JME-FS’lerde SK’lere göre azalma saptandı.Sol serebellum krus 1’in sağ serebellum lobül IX ve dorsal pons ile olan bağlantısallığında JMEFS’lerdeSK’lere göre azalma saptandı (sırasıyla pFWE-corr= 0.0014, pFWE-corr= 0.0436). Solorta temporal girusun bilateral superior frontal girus ile olan bağlantısallığında JME-FSlerde JMENFSyekıyasla azalma izlendi (pFWE-corr= 0.0016). Sol presentral girusun i) sol superior frontalgirus ile olan bağlantısallığında JME-NFSlerde SK’lere kıyasla artma (pFWE-corr= 0.0015), ii) sağbaskın bilateral kalkarin fissür ve oksipital kutup ile olan bağlantısallığında ise JME-NFSye kıyaslaJME-FSde azalma (pFWE-corr) = 0.0103).Yorum:Bu çalışma, frontal alanların yanı sıra serebellum, temporal girus ve parietal lobun yapısalanormalliklerini ve fotosensitivitenin patogenezi için anahtar yapılara sahip bu alanların FCanormalliklerini ortaya çıkardı. Sonuçlarımız, JMEde fonksiyonel-anatomik iktojenik ağlarınvarlığını ve sistem epilepsileri kavramını güçlendirmektedir
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