bluuebunny/crossref_metadata_2025_split huggingface dataset:
Electroclinical history of a five‐year‐old girl with GRIN1‐related early‐onset epileptic encephalopathy: a video‐case study
Authors: Pironti Erica , Granata Francesca , Cucinotta Francesca , Gagliano Antonella , Efthymiou Stephanie , Houlden Henry , Salpietro Vincenzo , Di Rosa Gabriella 
Published: August 2019

ABSTRACTDe novo mutations in the GRIN1 gene have been recently reported as the molecular cause of a broad‐spectrum early‐onset neurological phenotype. Here, we describe a five‐year‐old girl with an early‐onset epileptic encephalopathy associated with an infantile hyperkinetic movement disorder and oculomotor abnormalities. Whole‐exome sequencing identified a novel p.Met641Leu de novo variant in the GRIN1 gene as the cause of the phenotype. In silico analysis suggested that the p.Met641Leu variant would alter the gating property of the ion channel, with the involved methionine residue facing towards the ion pore. Long‐term systematic video‐EEG allowed us to report on the electroclinical history and, specifically, on the semiology of the hyperkinetic movement disorder and oculomotor abnormalities resembling oculogyric crises in our patient. Our findings and a review of the recent literature reinforce the notion of GRIN1‐encephalopathy as a recognizable neurological phenotype that should be suspected in early‐onset epilepsy associated with hyperkinetic movement disorders. [Published with video sequence on www.epilepticdisorders.com]
Refractory epilepsy secondary to anti‐GAD encephalitis treated with DBS post SEEG evaluation: a novel case report based on stimulation findings
Authors: Gillinder Lisa , Lehn Alexander , Papacostas Jason , Olson Sarah , Blum Stefan , Dionisio Sasha 
Published: August 2019

ABSTRACTWe report a case of medically refractory anti‐GAD encephalitis which was treated with deep brain stimulation (DBS) after seizure termination was achieved using cortical stimulation during stereo‐electroencephalography (SEEG) evaluation. The patient underwent bilateral SEEG implantation and cortical stimulation. Upon stimulation, mimicking the intrinsic seizures (at 1 Hz), it was possible to induce seizures with typical semiology, on multiple attempts. Stimulation during these seizures with high frequency (50 Hz) resulted in complete termination of the seizure. DBS was inserted after the SEEG evaluation, targeting the bilateral anterior nucleus of the thalamus. There was a sustained reduction in seizure frequency and severity 12 months post insertion. There were also improvements in quality of life. To the best of our knowledge, this is the only case reported in which DBS was successfully used to treat refractory epilepsy in a patient with seizures that were proven to be responsive to electrical stimulation during SEEG recording.
The natural history of nodding syndrome
Authors: Idro Richard , Ogwang Rodney , Kayongo Edward , Gumisiriza Norbert , Lanyero Agnes , Kakooza‐Mwesige Angelina , Opar Bernard 
Published: August 2019

ABSTRACTAims. Nodding syndrome is a poorly understood acquired disorder affecting children in sub‐Saharan Africa. The aetiology and pathogenesis are unknown, and no specific treatment is available. Affected children have a distinctive feature (repeated clusters of head nodding) and progressively develop many other features. In an earlier pilot study, we proposed a five‐level clinical staging system. The present study aimed to describe the early features and natural history of nodding syndrome and refine the proposed clinical stages.Methods. This was a retrospective study of the progressive development of symptoms and complications of nodding syndrome. Participants were a cohort of patients who had been identified by community health workers and were referred for treatment. A detailed history was obtained to document the chronological development of symptoms before and after onset of head nodding and a physical examination and disability assessment performed by a team of clinicians and therapists.Results. A total of 210 children were recruited. The mean age at the onset of head nodding was 7.5 (SD: 3.0) years. Five overlapping clinical stages were recognised: prodromal, head nodding, convulsive seizures, multiple impairments, and severe disability stages. Clinical features before the onset of head nodding (prodromal features) included periods of staring blankly or being inattentive, complaints of dizziness, excessive sleepiness, lethargy, and general body weakness, all occurring two weeks to 24 months before nodding developed. After the onset of head nodding, patients progressively developed convulsive seizures, cognitive and psychiatric dysfunction, physical deformities, growth arrest, and eventually, in some patients, severe disability.Conclusions. The description of the natural history of nodding syndrome and especially the prodromal features has the potential of providing a means for the early identification of at‐risk patients and the prompt initiation of interventions before extensive brain injury develops. The wide spectrum of symptoms and complications emphasises the need for multi‐disciplinary investigations and care.
Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome
Authors: Jan Saber , Ochi Ayako , Kagawa Kota , Gill Peter , Guttmann Astrid , Otsubo Hiroshi , Kobayashi Jeff 
Published: August 2019

ABSTRACTWilliams‐Beuren syndrome is rarely associated with epilepsy. One previously reported case showed an association with apnoeic seizures while a few other cases showed an association with infantile epileptic spasms and generalized and focal seizures. We report the case of a 13‐month‐old boy with a deletion typically associated with Williams‐Beuren syndrome, who presented with isolated apnoeic seizures which were refractory to multiple antiepileptic drugs but partially responsive to the ketogenic diet. The diagnosis was challenging due to a complex cardiac history, gastroesophageal reflux, and normal interictal EEG findings. This case highlights the importance of prolonged EEG monitoring in suspected cases of apnoeic seizures. Further, given the reported cases of unexplained sudden death in Williams‐Beuren syndrome, this case raises the possibility of an association between apnoeic seizures and unexplained sudden death. [Published with video sequence on www.epilepticdisorders.com]
Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient
Authors: Muccioli Lorenzo , Licchetta Laura , Stipa Carlotta , Tinuper Paolo , Bisulli Francesca 
Published: August 2019

ABSTRACTWe describe a 68‐year‐old woman who had typical absence seizures since 14 years of age. The absences were refractory to treatment and persisted into adulthood, with no seizure‐free periods until seizure control at 59 years of age. After six years of being seizure‐free, she presented with an episode characterized by mental confusion, abnormal behaviour, and amnesia, lasting for several hours. An EEG performed the day after, when the patient had already recovered, was unremarkable. The episode was interpreted as transient global amnesia. After two and three years, respectively, she presented with two analogous episodes lasting >24 hours. An EEG disclosed, on both occasions, subcontinuous generalized spike‐and‐wave discharges, consistent with absence status epilepticus (AS). The last episode occurred at 68 years of age and was successfully treated with intravenous lorazepam. After one month of follow‐up, no further episodes occurred.AS is common in juvenile absence epilepsy, however, our patient showed a rather atypical course, characterized by refractory and persistent absences during adolescence and adulthood, and a tendency for AS to recur with no more absences in later life. Despite the known epilepsy history, AS episodes were initially misdiagnosed. Moreover, EEG recording and subsequent treatment were not performed until the second day of status.
Hemiconvulsion‐Hemiplegia‐Epilepsy in a girl with cobalamin C deficiency
Authors: Myers Kenneth A. , Dudley Roy WR. , Srour Myriam 
Published: August 2019

ABSTRACTHemiconvulsion‐Hemiplegia‐Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop a chronic epilepsy with recurrent focal seizures which are often refractory to treatment. This uncommon paediatric epilepsy syndrome is poorly understood, with only a very small minority of cases associated with an underlying genetic or metabolic abnormality.We present a four‐year‐old girl with genetic cobalamin C deficiency who had a dramatic presentation with Hemiconvulsion‐Hemiplegia‐Epilepsy. She had febrile focal status epilepticus, with right hemiconvulsive seizures for nearly 10 hours, ultimately requiring a midazolam infusion. Over subsequent days, she developed progressively worsening cerebral oedema, leading to herniation and requiring a craniectomy to relieve pressure.This girl's presentation is the first association of cobalamin deficiency with hemiconvulsion‐hemiplegia‐epilepsy; and illustrates the importance of considering this entity when patients with this metabolic disorder present with acute deterioration. More importantly, the case also raises the possibility that derangements of cobalamin metabolism could be a contributing factor in cases of hemiconvulsion‐hemiplegia‐epilepsy, as well as febrile seizures in general.
Practice and challenges in provision of guidance and counselling services in secondary schools of South Gondar, Ethiopia
Authors: Kelkay Asrat Dagnew 
Published: August 2019

The main purpose of the study was to assess the provision of guidance and counselling service in South Godar secondary schools. It was designed to study the types of service provided by service providers in South Gondar secondary schools and to investigate the attitude and awareness of Guidance & Counselling Committee (GCC) members, teachers, principals and students towards the usefulness of guidance and counselling services/programme. The study was conducted using a descriptive survey design from five secondary schools using questionnaires and interview as data gathering instruments. The total number of sampled respondents was 173, of which 100 (students) selected by simple random sampling, five school principals, 49 teachers, 19 GCC members/service providers were selected using comprehensive sampling technique. Statistical data analysis techniques were used to analyse the data and thematic analysis, i.e., qualitative analysis, was used to interpret interview and open-ended questionnaires. The study revealed that most of the secondary school service providers were provided behavioural and academic counselling and educational counselling for their students in their respective schools. The study also indicated that positive attitude and promising awareness towards guidance and counselling service among the four category respondents.
Keywords: Challenges, counselling guidance, practice and secondary school.
Status of counselling services in secondary schools in Keren sub-zone, Anseba Region, Eritrea
Authors: Andegiorgis Ghebrehiwet Eyasu 
Published: August 2019

The purpose of the study was to assess status of counselling services in secondary schools in Keren sub-zone, Anseba region, Eritrea. The research was anchored on Social Learning Theory of Albert Bandura. The study used convergent parallel mixed method research design. Questionnaires and interview guide were used to collect the data. A sample of 306 students, 20 teachers, 5 head masters, 5 teacher counsellors were used for this study. Systematic sampling, simple random and purposive sampling were used to select the schools and the participants. The validity and reliability of the instruments was guaranteed by piloting and Cronbach Alpha technique. Data gathered through questionnaires were processed using descriptive statistical techniques involving frequencies, percentages and means. The results were then presented using tables, pie charts and bar graphs. Data gathered through interview guides were analysed and presented using quotes, themes and narrative descriptions. The findings of the study showed that counselling was minimally used in the secondary schools in Keren subzone. Majority of students, 57.6% and teachers, 75% reported that their schools did not have counselling service.
Key words: Counselling services, status, students, counsellor, teacher, head teachers.
PENGARUH TINGKAT PENDIDIKAN DAN PENDAPATAN ORANG TUA TERHADAP PRESTASI BELAJAR IPS SISWA KELAS VIII DI MTS AZZAINIYAH I RANDUMERAK KECAMATAN PAITON KABUPATEN PROBOLINGGO TAHUN AJARAN 2013/2014
Authors: Solehoddin Solehoddin 
Published: August 2019

Pendidikan di sekolah merupakan suatu usaha untuk membantu siswa dalam perkembangan sesuai dengan bakat dan kemampuan anak. Tingkat keberhasilan dari masing-masing anak banyak dipengaruhi oleh beberapa faktor antara lain faktor latar belakang keluarga, tingkat pendidikan, dan tingkat pendapatan orang tua yang mempengaruhi prestasi belajar siswa. Metode penelitian yang digunakan dalam penelitian ini adalah metode data primer yang berupa angket dan dan sekunder yang berupa rapot siswa semester I mata pelajaran IPS kelas VIII Di MTs Azzainiyah I Randumerak,Kecamatan paiton Kabupaten Probolinggo Tahun pelajaran 2013/2014 .berdasarkan hasil penelitian didapatkan dan setelah diadakan analisis data diperoleh rhitung (X1) sebesar 0,759 dan rhitung (X2) sebesar 0,617 sedangkan thitung (X1) sebesar 0,035 dan thitung (X2)sebesar 0,011. Sedangkan Fhitung sebesar 0,000 dan kontribusi efektif dari kedua variabel tingkat pendidikan dan tingkat pendapatan orang tua tersebut sebesar 62,9%. terhadap prestasi belajar dan sisanya sebesar 37,1%.dari kesimpulan di atas ada pengaruh yang positih dan signifikan antara pendidikan dan pendapatan orang tua terhadap prestasi belajar siswa.
ANALISIS PENGEMBANGAN OBJEK WISATA ASAM SATU BEACH KABUPATEN FLORES TIMUR NUSA TENGGARA TIMUR
Authors: Payong Fransiskus Laga , Wardani Nila Restu 
Published: August 2019

Asam Satu Beach merupakan salah satu pantai di Larantuka, berada di ujung timur Pulau Flores yang terletak di Kelurahan Weri Kecamatan Larantuka Kabupaten Flores Timur. Pantai ini berada di pusat kota. Asam Satu Beach memiliki daya tarik wisata berupa sunset. Tujuan penelitian ini adalah untuk mengetahui bagaimana pengembangan wisata yang telah dilakukan oleh pengelola objek wisata Asam Satu Beach. Jenis penelitian yang digunakan adalah penelitian deskriptif dengan pendekatan kualitatif. Peneliti hadir selama penelitian berlangsung untuk mengumpulkan data baik data primer maupun data sekunder. Pengumpulan data dilakukan dengan 3 teknik yaitu: wawancara, observasi, dan dokumentasi. Analisis datanya dengan analisis deskriptif kualitatif dan analisis SWOT. Berdasarkan hasil penelitian dan analisis yang dilakukan tentang pegembangan Objek Wisata Asam Satu Beach berdasarkan analisi SWOT sebagai berikut: Sampai saat ini Pantai Asam Satu Beach meliliki keindahan alam pantai yang masih alami, lokasi yang strategis, aksesbilitas yang dilalui jalan arteri, dan memiliki daya tarik tambahan seperti spot foto. Selain itu Pantai Asam Satu Beach memiliki beberapa kelemahan diantaranya, kurangnya promosi dan pungutan biaya masuk, kurangnya sarana dan prasarana seperti kamar ganti semua ini juga dikarenakan tanpa campur tangan pemerintah dalam mengolahnya. Pantai Asam Satu Beach yang merupakan wisata populer di Kota Larantuka, memberikan dampak posostif bagi masyarakat sekitar karena dapat menunjang lapangan pekerjaan dan menurunkan tingkat pengangguran.
Faktor-Faktor yang Mempengaruhi Pola Keruangan Belanja Wanita dalam Pemberdayaan Ekonomi di Urban Fringe Kecamatan Sukun Kota Malang
Authors: Septina Riska , Hamdani Akhmad Faruq , Jamil Achmad Maulana Malik 
Published: August 2019

Kecamatan Sukun merupakan salah satu kecamatan di Kota Malang, sebagai wilayah urban fringe. Perkembangan kota yang terus menerus akan berpengaruh terhadap kegiatan masyarakat yang ada di wilayah urban fringe. Kebiasaan belanja wanita mempunyai pengaruh terhadap pemberdayaan ekonomi dan masyarakat. Pemberdayaan ekonomi berarti memampukan masyarakat sekitar agar mandiri secara ekonomi atau setidaknya memberikan pemacu agar terjadi perkembangan ekonomi di daerah. Penelitian ini bertujuan untuk menganalisis faktor-faktor yang mempengaruhi pola keruangan belanja wanita di urban fringe Kecamatan Sukun Kota Malang. Penelitian ini bersifat deskriptif kuantitatif, dengan teknik pengumpulan data yaitu kuesioner dan dokumentasi. Objek penelitian adalah wanita rumah tangga di urban fringe Kecamatan Sukun Kota Malang. Penentuan sampel didasarkan pada stratified random sampling, dengan jumlah yaitu 100 wanita rumah tangga yang tersebar di enam kelurahan sebagai sampel wilayah. Teknik analisis data yang digunakan yaitu deskriptif persentase, Chi Square dan regresi linear berganda. Hasil penelitian menunjukkan bahwa karakteristik sosial ekonomi wanita di urban fringe Kecamatan Sukun memiliki potensi bagi pemberdayaan ekonomi, ditandai dengan umur yang produktif, tingkat pendidikan, pendapatan dan pengeluaran keluarga. Pola keruangan terutama pada jarak menunjukkan adanya hubungan dengan wilayah urban fringe. Faktor-faktor yang mempengaruhi pola keruangan belanja wanita adalah kepribadian wanita sebagai faktor internal dan sebagai faktor eksternal adalah kualitas serta pilihan produk. Berdasarkan hasil penelitian, maka saran yang diberikan adalah pengembangan sarana dan prasarana di urban fringe Kecamatan Sukun dengan memperhatikan daya saing kualitas dan jumlah produk. Pengembangan fasilitas pelayanan ekonomi terutama pasar tradisional di urban Fringe karena wanita cenderung memilih jarak yang dekat dari tempat tinggalnya untuk belanja.
Acxiom, Red Hat, Actifio, & IBM: A Strategic Partnership on Virtualization and Marketing
Authors: Gutiérrez B. Wilson H. 
Published: August 2019

This document contains an analysis of strategic alliances between «big» players in information technology (IT) and software applications in server virtualization (SV) and marketing alliances. The main objective is to analyze the commercial advantages, benefits, and challenges of business partners, using the SV for information management, data storage, and collaboration in marketing programs. We analyze cases of alliances in companies like IBM, Acxiom, Red Hat, and Actifio, who have identified the competitive advantages of having a main «partner», which has the ideal product or service to complement one or several secondary brands as a commercial strategy and brand positioning.
The SV brings positive transformations such as the reduction of hardware costs, the improvement of the provisioning and implementation of the server, disaster recovery solutions, efficient and economical use of energy, and increased productivity. This strategy invites to change the way in which data centers are being formed, and becomes a preferred solution not only for the reduction of IT costs, but at the same time it makes a company more flexible, productive, and efficient, generating better results.
The ability to capture and store more and more detailed information about customer needs and behavior, taking advantage of the technology and intelligence of business partners, creates better opportunities in services, products, and more effective marketing campaigns, attracting new customers and positioning brands.
Emerging pesticides responsible for suicide in rural Sri Lanka following the 2008-2014 pesticide bans
Authors: Weerasinghe Manjula , Pearson Melissa , Konradsen Flemming , Agampodi Suneth , Sumith J.A. , Jayamanne Shaluka , Senanayake S.M.H.M.K. , Rajapaksha Sandamali , Eddleston Michael 
Published: August 2019

Abstract
Background

Sri Lanka has reduced its overall suicide rate by 70% over the last two decades through regulation of a series of agricultural pesticides. We aimed to identify the key pesticide(s) now responsible for suicides in rural Sri Lanka to provide data for further pesticide regulation.

Methods

We performed a secondary analysis of data collected prospectively during a cluster randomized controlled trial in the Anuradhapura district of Sri Lanka from 2011-16. The identity of pesticides responsible for suicides were sought from medical or judicial medical notes, coroners’ records, and the person’s family. Trend analysis was done using a regression analysis with curve estimation to identify relative importance of key pesticides.

Results

We identified 337 suicidal deaths. Among them, 193 (57.3%) were due to ingestion of pesticides and 82 (24.3%) to hanging. A specific pesticide was identified in 105 (54.4%) of the pesticide suicides. Ingestion of carbosulfan or profenofos was responsible for 59 (56.2%) of the suicides with a known pesticide and 17.5% of all suicides. The increasing trend of suicides due to carbosulfan and profenofos was statistically significant (R square 0.846, F 16.541, p 0.027).

Conclusion

Ingestion of pesticides remains the most important means of suicides in rural Sri Lanka. The pesticides that were once responsible for most pesticide suicides have now been replaced by carbosulfan and profenofos. Their regulation and replacement in agriculture with less hazardous pesticides will further reduce the incidence of both pesticide and overall suicides in rural Sri Lanka.
Systematic analysis of JmjC gene family of Brassica napus and KDM5 subfamily involved in abiotic stress response
Authors: He Xinghui , Pan Jiao , Liu Boyu , Tan Chengfang , Ruan Ying , Huang Yong 
Published: August 2019

Abstract
Background: Jumonji C (JmjC) proteins play an important role in plant development and stress response through the removal of lysine methylation from histones. Brassica napus, which originated from spontaneous hybridization between Brassica rapa and Brassica oleracea, is the most important oilseed crop after soybean, but evolutionary relationships and functions of JmjC proteins remain unclear.
Results: 65 JmjC genes were identified from B. napus genome, 29 from B. rapa, and 23 from B. oleracea. These genes were grouped into seven clades according to conserved sequences, and their catalytic activities of demethylation were predicted. Group-KDM4/JHDM3 for H3K4/9/27/36, Group-KDM5A/B for H3K4, Group-JmjC domain-only A/B for H3K27/36, Group-KDM3/JHDM2 for H3K9, and Group-JMJD6 may be for arginine demethylases. B. napus inherited most of its JmjC genes from its parents. The average retention rate of B. napus JmjC gene from B. rapa (93.1%) and B. oleracea (82.6%) exceeded that of all homologous gene pairs (83.7%) across the whole B. napus genome. Thirteen new or duplicated JmjC genes have emerged in B. napus. Sequence similarity and domain organization analyses suggest that the functions of these genes might be diversified. Furthermore, KDM5 genes were examined under stress conditions due to H3K4 demethylation. Expression profiles indicated that the genes from B. napus are possibly involved in various stress responses.
Conclusion: This study provides the first genome-wide characterization of JmjC genes in Brassica species. Its JmjC genes potentially have diverse functions, and its KDM5 genes might be involved in stress response. The results of this study facilitate the future functional characterization of the demethylation of JmjC family in Brassica crops.