Antiepileptik Kullanımına Bağlı Gelişen Bir Yürüme Bozukluğu

Giriş: Epilepsi genel popülasyonda %0.5 ile 1 sıklıkta görülençocukluk çağının önemli kronik hastalıklarından biridir. Epilepsinin tedavisinde hastalığın klinik seyrine göre tekli veyakombine antiepileptik ilaçlar kullanılmaktadır. İlaçların kullanımı sürecinde yan etkiler ortaya çıkabilmektedir. Vakamızda dayürüme bozukluğu ile başvuran bir hastada etyolojide antiepileptik kullanımına bağlı yan etki ortaya çıkmıştır.Olgu: 10 yaşında erkek hasta epilepsi ile takipte ve epdantoinkullanıyormuş. Çocuk acil servisine ataksik tarzda yürüme nedeni ile başvurdu. Hastanın fizik muayenesi, biyokimyası, kan gazı,kranial görüntülemesi, kan ilaç düzeyi (epdantoin) normal olanhasta antiepileptiklere bağlı ataksik yan etki olarak değerlendirildi ve gözleme alındı. Pediatri nöroloji departmanı ile konsulteedilen hastanın ilacı kesilerek başka bir antiepileptik başlandı. 24saat gözlemden sonra hasta önerilerle taburcu edildi.Sonuç: Ataksi, hareketlerde koordinasyon bozukluğu ile karakterize bir klinik bulgudur ve pek çok nörolojik hastalığa eşlikedebilir. Hemisferik, serebellar, vestibüler ve santral ve periferikduysal nedenlerle ortaya çıkabilir. Her istemli hareketi etkilediği gibi pek çok refleks hareketi de etkiler. Postural stabilite,yürüme, ekstremitelerin koordinasyonu, konuşma ve göz hareketleri belirgin ölçüde bozulabilir. Ataksinin bir çok nedeniolmakla birlikte çocuklarda özellikle herhangi bir neden tesbitedilemezse ilaçlar (metronidazol, streptomisin, antiepileptikler,antineoplastikler, lityum vb) mutlaka akılda bulundurulmalı vedikkatlice sorgulanmalıdır.Anahtar Kelimeler: Ataksi, epilepsi, fenitoin</p

Akut Distoni Tanısında Anamnezin Önemi

Giriş: Distoni sıklıkla bükülme, tekrarlayan hareketler ve anormal duruşlara neden olan istemsiz sürekli ya da aralıklı kaskasılmaları ile karakterize bir hareket bozukluğudur. Tik bozukluklarından sonra çocukluk çağında en sık görülen hareketbozukluğudur. Distonik hareketlerin en önemli özelliği agonistve antagonist kasların eş zamanlı devamlı kasılmalarıdır. Tıbbiöykü, fizik muayene, nörolojik muayene, nörogörüntüleme vegenetik analiz genellikle distoninin spesifik nedenini belirlemek için gereklidir. Çocuklarda akut gelişen distoni vakalarındailaç alımı kesinlikle sorgulanmalıdır. Olgumuzda distoni nedeniyle başvuran ve etyolojide herhangi bir neden tesbit edilememesi nedeniyle anamnezi tekrar tekrar yapmamızın sonucundailaç alım öyküsü ortaya çıkmıştır. Onun için çocuklarda hareketbozukluklarında ilaç sorgulamasının önemini vurgulamak içinbu vakayı sunmayı uygun gördük.Olgu: Daha önceden tamamen sağlıklı olan 10 yaşında erkekhasta çocuk acil servisine 2 saat öncesinde başlayan kollardaburkulma tarzında hareket şikayetiyle başvurdu. Fizik muayenesi, tam kan sayımı, elektrolitleri, kan gazı, kranial görüntülemesinormal olan hasta gözleme alındı. İkinci kez anamnez alındıherhangi bir etyoloji bulunmadı.2 saat sonra tekrar anamnezalındı ve dedesinin ilacından (antipsikotik: haloperidol) aldığıöğrenildi. Antipsikotik ilaca bağlı ekstrapiramidal yan etki olarakakut distoni düşünülerek 5 mg biperiden (akineton) yapıldı ve 2saat içinde dramatik şekilde düzeldi. Bir gün gözlenen hastanıngenel durumu iyi olduğu için taburcu edildi.Sonuç: Hareket bozuklukları çocuklarda sık görülen bir durumdur. Distoni de çocuklarda ikinci en sık görülen hareket bozukluğudur. Distonin spesifik nedeninin ortaya konması tıbbi öykü,fizik muayene, nörolojik muayene ve görüntülemenin yanı sıradetaylı aile öyküsü ve moleküler genetik testlerin kullanımınıiçerir. Çocuklarda akut gelişen bir hareket bozukluğunda anamnez çok dikkatli alınmalı ve etyoloji tesbit edilemezse anamnez derinleştirilerek tekrarlanmalıdır. Hareket bozukluklarındaanamnez alırken metokloropramid, nöroleptikler gibi ilaç alımöyküsü mutlaka araştırılmalıdır.</p

The 4D Nucleome Data Portal as a resource for searching and visualizing curated nucleomics data

AbstractThe 4D Nucleome (4DN) Network aims to elucidate the complex structure and organization of chromosomes in the nucleus and the impact of their disruption in disease biology. We present the 4DN Data Portal (https://data.4dnucleome.org/), a repository for datasets generated in the 4DN network and relevant external datasets. Datasets were generated with a wide range of experiments, including chromosome conformation capture assays such as Hi-C and other innovative sequencing and microscopy-based assays probing chromosome architecture. All together, the 4DN data portal hosts more than 1800 experiment sets and 36000 files. Results of sequencing-based assays from different laboratories are uniformly processed and quality-controlled. The portal interface allows easy browsing, filtering, and bulk downloads, and the integrated HiGlass genome browser allows interactive visualization and comparison of multiple datasets. The 4DN data portal represents a primary resource for chromosome contact and other nuclear architecture data for the scientific community.</jats:p

Epileptic seizures in cerebral venous sinus thrombosis: Subgroup analysis of VENOST study

Purpose: The aim of this study is to evaluate the presence and prognostic impact of early seizures in cerebral venous sinus thrombosis patients (CVST).Method: VENOST is a retrospective and prospective national multicenter observational study. CVST patients with or without epileptic seizures (ES) were analyzed and compared in terms of demographic and imaging data, causative factors, clinical variables, and prognosis in a total of 1126 patients.Results: The mean age of the patients in the ES group was 39.73 +/- 12.64 and 40.17 +/- 14.02 years in the non-ES group (p > 0.05). Epileptic seizures were more common (76.6 %) in females (p < 0.001). Early ES occurred in 269 of 1126 patients (23.9 %). Epileptic seizures mainly presented in the acute phase (71.4 %) of the disease (p < 0.001). Majority of these (60.5 %) were in the first 24 h of the CVST. The most common neurological signs were focal neurologic deficits (29.9 %) and altered consciousness (31.4 %) in the ES group. Superior sagittal sinus (SSS) and cortical veins (CV) involvement were the most common sites of thrombosis and the mostly related etiology were found puerperium in seizure group (30.3 % vs 13.9 %). Patients with seizures had worse outcome in the first month of the disease (p < 0.001) but these did not have any influence thereafter.Conclusions: In this largest CVST cohort (VENOST) reported female sex, presence of focal neurological deficits and altered consciousness, thrombosis of the SSS and CVs, hemorrhagic infarction were risk factors for ES occurrence in patients with CVST

Cerebral Venous Sinus Thrombosis as a Rare Complication of Systemic Lupus Erythematosus: Subgroup Analysis of the VENOST Study

Kozak, Hasan Huseyin/0000-0001-6904-8545; Sahin, Sevki/0000-0003-2016-9965; Batur Caglayan, Hale/0000-0002-3279-1842; GUNES, TASKIN/0000-0002-9343-0573; Afsar, Nazire/0000-0001-8123-8560; Uzuner, Nevzat/0000-0002-4961-4332WOS: 000498868800011PubMed: 31562041Aim: Systemic lupus erythematosus (SLE) is an unusual risk factor for cerebral venous sinus thrombosis (CVST). As few CVST patients with SLE have been reported, little is known regarding its frequency as an underlying etiology, clinical characteristics, or long-term outcome. We evaluated a large cohort of CVST patients with SLE in a multicenter study of cerebral venous thrombosis, the VENOST study, and their clinical characteristics. Material and Method: Among the 1144 CVST patients in the VENOST cohort, patients diagnosed with SLE were studied. Their demographic and clinical characteristics, etiological risk factors, venous involvement status, and outcomes were recorded. Results: In total, 15 (1.31%) of 1144 CVST patients had SLE. The mean age of these patients was 39.9 +/- 12.1 years and 13 (86.7%) were female. Presenting symptoms included headache (73.3%), visual field defects (40.0%), and altered consciousness (26.7%). The main sinuses involved were the transverse (60.0%), sagittal (40.0%), and sigmoid (20.0%) sinuses. Parenchymal involvement was not seen in 73.3% of the patients. On the modified Rankin scale, 92.9% of the patients scored 0-1 at the 1-month follow-up and 90.9% scored 0-1 at the 1-year follow-up. Conclusions: SLE was found in 1.31% of the CVST patients, most frequently in young women. Headache was the most common symptom and the CVST onset was chronic in the majority of cases. The patient outcomes were favorable. CVST should be suspected in SLE patients, even in those with isolated chronic headache symptoms with or without other neurological findings

Cerebral Venous Sinus Thrombosis as a Rare Complication of Systemic Lupus Erythematosus: Subgroup Analysis of the VENOST Study

Aim: Systemic lupus erythematosus (SLE) is an unusual risk factor for cerebral venous sinus thrombosis (CVST). As few CVST patients with SLE have been reported, little is known regarding its frequency as an underlying etiology, clinical characteristics, or long-term outcome. We evaluated a large cohort of CVST patients with SLE in a multicenter study of cerebral venous thrombosis, the VENOST study, and their clinical characteristics. Material and Method: Among the 1144 CVST patients in the VENOST cohort, patients diagnosed with SLE were studied. Their demographic and clinical characteristics, etiological risk factors, venous involvement status, and outcomes were recorded. Results: In total, 15 (1.31%) of 1144 CVST patients had SLE. The mean age of these patients was 39.9 +/- 12.1 years and 13 (86.7%) were female. Presenting symptoms included headache (73.3%), visual field defects (40.0%), and altered consciousness (26.7%). The main sinuses involved were the transverse (60.0%), sagittal (40.0%), and sigmoid (20.0%) sinuses. Parenchymal involvement was not seen in 73.3% of the patients. On the modified Rankin scale, 92.9% of the patients scored 0-1 at the 1-month follow-up and 90.9% scored 0-1 at the 1-year follow-up. Conclusions: SLE was found in 1.31% of the CVST patients, most frequently in young women. Headache was the most common symptom and the CVST onset was chronic in the majority of cases. The patient outcomes were favorable. CVST should be suspected in SLE patients, even in those with isolated chronic headache symptoms with or without other neurological findings

Behcet's disease as a causative factor of cerebral venous sinus thrombosis: subgroup analysis of data from the VENOST study

Objective This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behcet's disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST)

Epileptic seizures in cerebral venous sinus thrombosis: Subgroup analysis of VENOST study

Purpose: The aim of this study is to evaluate the presence and prognostic impact of early seizures in cerebral venous sinus thrombosis patients (CVST). Method: VENOST is a retrospective and prospective national multicenter observational study. CVST patients with or without epileptic seizures (ES) were analyzed and compared in terms of demographic and imaging data, causative factors, clinical variables, and prognosis in a total of 1126 patients. Results: The mean age of the patients in the ES group was 39.73 +/- 12.64 and 40.17 +/- 14.02 years in the non-ES group (p > 0.05). Epileptic seizures were more common (76.6 %) in females (p < 0.001). Early ES occurred in 269 of 1126 patients (23.9 %). Epileptic seizures mainly presented in the acute phase (71.4 %) of the disease (p < 0.001). Majority of these (60.5 %) were in the first 24 h of the CVST. The most common neurological signs were focal neurologic deficits (29.9 %) and altered consciousness (31.4 %) in the ES group. Superior sagittal sinus (SSS) and cortical veins (CV) involvement were the most common sites of thrombosis and the mostly related etiology were found puerperium in seizure group (30.3 % vs 13.9 %). Patients with seizures had worse outcome in the first month of the disease (p < 0.001) but these did not have any influence thereafter. Conclusions: In this largest CVST cohort (VENOST) reported female sex, presence of focal neurological deficits and altered consciousness, thrombosis of the SSS and CVs, hemorrhagic infarction were risk factors for ES occurrence in patients with CVST.WOS:0005375741000192-s2.0-85083703251PubMed: 3235381

Behcet's disease as a causative factor of cerebral venous sinus thrombosis: subgroup analysis of data from the VENOST study

karahan, ali yavuz/0000-0001-8142-913X; Kozak, Hasan Huseyin/0000-0001-6904-8545; Uzuner, Nevzat/0000-0002-4961-4332; Tascilar, Nida/0000-0003-0780-0783; Afsar, Nazire/0000-0001-8123-8560; Zeydan, Burcu/0000-0002-2270-9868; Batur Caglayan, Hale/0000-0002-3279-1842WOS: 000465130500010PubMed: 29992235Objective This study was performed to determine the rate of cerebral venous sinus thrombosis (CVST) among cases of Behcet's disease (BD) included in a multicentre study of cerebral venous sinus thrombosis (VENOST). Methods VENOST was a retrospective and prospective national multicentre observational study that included 1144 patients with CVST. The patients were classified according to aetiologic factors, time of CVST symptom onset, sinus involvement, treatment approach and prognosis. Results BD was shown to be a causative factor of CVST in 108 (9.4%) of 1144 patients. The mean age of patients in the BD group was 35.27 years and 68.5% were men, whereas in the non-BD CVST group, the mean age was 40.57 years and 28.3% were men (P < 0.001). Among the aetiologic factors for patients aged 18-36 years, BD was predominant for men, and puerperium was predominant for women. The onset of symptoms in the BD group was consistent with the subacute form. The transverse sinuses were the most common sites of thrombosis, followed by the superior sagittal sinuses. The most common symptom was headache (96.2%), followed by visual field defects (38%). Conclusions BD was found in 9.4% of patients in our VENOST series. Patients with BD were younger and showed a male predominance. The functional outcome of CVST in patients with BD was good; only 12% of patients presenting with cranial nerve involvement and altered consciousness at the beginning had a poor outcome (modified Rankin Score 2)