bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic loss‐of‐function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive
Authors: Daida Atsuro , Hamano Shin‐ichiro , Ikemoto Satoru , Matsuura Ryuki , Nakashima Mitsuko , Matsumoto Naomichi , Kato Mitsuhiro 
Published: August 2019

ABSTRACTMutation of the gene encoding ubiquitin‐like modifier‐activating enzyme 5 (UBA5) causes autosomal recessive early‐onset epileptic encephalopathy. UBA5 acts as an E1‐activating enzyme in the ubiquitin‐fold modifier 1 pathway, which is important for unfolded protein elimination and regulation of apoptosis, and has been linked to human diseases. We identified biallelic mutations in UBA5 in a Japanese boy with intractable West syndrome, profound failure to thrive, and severe cerebral and cerebellar atrophy. The boy presented with epileptic spasms and hypsarrhythmia at the age of three months. He was diagnosed with West syndrome, however, treatments with adrenocorticotropic hormone and several antiepileptic drugs were ineffective. MRI findings were initially normal, but subsequently showed a progression of cerebellar and cerebral atrophy. By the age of seven years, he had not achieved any developmental milestones; he had daily epileptic spasms and tonic seizures and profound failure to thrive. Gene analysis revealed novel compound heterozygous mutations in UBA5; a microdeletion encompassing the entire UBA5 gene and a putative disease‐causing missense mutation in the catalytic domain. These biallelic variants may have caused loss of function, accounting for the observed clinical symptoms. Intractable infantile epileptic spasms, failure to thrive, and severe neurological impairment may be characteristic of patients with UBA5 mutations.
Lacosamide for SCN2A‐related intractable neonatal and infantile seizures
Authors: Hadar Flor‐Hirsch , Eli Heyman , Ayelet Livneh , Orit Reish , Nathan Watemberg , Ita Litmanovits , Anat Ben Sason Lilli , Dorit Lev , Tally Lerman Sagie , Haim Bassan 
Published: August 2019

ABSTRACTVoltage‐gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A‐related neonatal seizures, as they counteract the gain‐of‐function effect of mutated Nav1.2 channels. Additionally, SCBs are beneficial against other sodium and potassium channel‐related neonatal seizures. There are, however, few reports describing the effect of the new SCB lacosamide against neonatal and infantile epileptic seizures. We report herein two neonates with intractable neonatal seizures with SCN2A pathogenic missense variants. Both infants showed temporary seizure relief following IV administrations of phenytoin, but were resistant to a combination of antiepileptic drugs, while complete seizure control was achieved following lacosamide administration. We suggest that SCBs, e.g. phenytoin, should be introduced early for refractory neonatal seizures of non‐lesional and presumably genetic origin. If any beneficial response to a SCB is noted, this should prompt an initiation of additional SCBs. New clinical trials will provide data on the efficacy and safety of the new SCB lacosamide for genetic neonatal seizures and perhaps neonatal seizures in general.
Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery
Authors: Lamberink Herm J. , Geleijns Karin , Otte Willem M. , Arzimanoglou Alexis , Helen Cross J. , Korff Christian M. , Ramantani Georgia , Braun Kees P.J. ,   on behalf of the TimeToStop trial group
Published: August 2019

ABSTRACTAims. Following the results of the multicentre European retrospective “TimeToStop” cohort study, we initiated a randomised trial to determine cognitive benefits of early postoperative antiepileptic drug withdrawal. Unfortunately, the trial failed to recruit and was terminated, as almost all parents preferred early drug withdrawal. The objectives of the current survey were to obtain insight into current practices regarding drug withdrawal after paediatric epilepsy surgery among epileptologists, and better understand the reasons for difficulties in recruitment.Methods. A survey was sent to three international epilepsy surgery networks, questioning drug withdrawal policies. Forty‐seven (19%) surveys were returned.Results. For polytherapy, withdrawal was started at a median of three and six months by the TimeToStop collaborators and other paediatric epileptologists, respectively. Withdrawal was completed at a median of 12 and 20 months, respectively. For monotherapy, tapering was initiated at five and 11 months in these two groups, and ended at a median of seven and 12 months, respectively. Most TimeToStop collaborators believed that it was not justified to wait 12 months after surgery before reducing AEDs, regardless of the number of AEDs taken.Conclusion. Current AED policies in Europe have changed as a consequence of the retrospective TimeToStop results, and this accounts for why recruitment in a randomised trial was not feasible.
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations
Authors: Shaukat Qudsia , Hertecant Jozef , El‐Hattab Ayman W. , Ali Bassam R. , Suleiman Jehan 
Published: August 2019

ABSTRACTAims. Mutations in the WWOX gene have been reported in a number of patients with various neurological disorders including spino‐cerebellar ataxia, intellectual disability, epilepsy, and epileptic encephalopathy. We aimed to study the clinical, electrographic, and imaging features of two new cases with WWOX mutations and compare them to previously reported cases with WWOX mutations.Methods. We assessed two unrelated children from two consanguineous families who had severe neurological disorder including early‐onset spastic quadriplegia, profound developmental delay, epilepsy, and West syndrome.Results. Based on whole‐exome sequencing, we identified homozygous null mutations in WWOX in both children, and further addressed the genotype‐phenotype correlation. In addition, we provide a detailed review of the previously reported cases of WWOX‐related neurological disorders and compare them to the children in this report.Conclusions. The findings in this report expand the clinical phenotype associated with WWOX mutations and confirm a well characterised severe central nervous system disorder in association with biallelic null mutations in WWOX. This syndrome consists of profound psychomotor delay, early‐onset spastic quadriplegia, and refractory epilepsy including epileptic encephalopathy, acquired microcephaly, and growth restriction. This can be associated with progressive brain atrophy, suggestive of neurodegeneration. Identification of this phenotype by clinicians may help with early diagnosis and appropriate genetic counselling.
Cortical surface intracranial electrodes identify clinically relevant seizures missed on scalp EEG after traumatic intracranial hemorrhage
Authors: Marcellino Chris R. , Lapalme‐Remis Samuel , Rabinstein Alejandro A. , Van Gompel Jamie J. , Worrell Gregory A. , Payne Eric T. , Hocker Sara 
Published: August 2019

ABSTRACTSeizures and other electrophysiological disturbances are an under‐recognized cause of coma, focal deficits, and prolonged encephalopathy following subdural hematoma evacuation. In these patients, it is possible that seizures remain unrecognized on scalp EEG. It has been shown that a high burden of seizures and other electrophysiological disturbances exist following surgical evacuation and underlie the encephalopathy commonly seen in this patient population, predisposing them to medical complications and confounding estimates of prognosis. As part of a research protocol, we are performing intraoperative placement of cortical surface (non‐parenchyma penetrating) intracranial EEG on patients who present after trauma and require emergent decompressive hemicraniectomy.In this case report of a patient with high‐velocity traumatic epidural, subdural, and subarachnoid hemorrhages, we identified frequent non‐convulsive seizures or seizure‐like SIRPIDs with intracranial cortical surface monitoring that were not identified on simultaneous scalp EEG. Stimulation consistently triggered these electrographic seizures in addition to rhythmic lateralized periodic discharges. His mental status improved rapidly after resolution of these electrographic seizures shortly after increasing antiseizure medications, suggesting that they may have been contributing to his encephalopathy. More research is needed to determine the frequency of this phenomenon and determine whether treatment of such seizures improves patient outcomes.
Efficiency of midsize enterprises in the free-trade-zone in Barranquilla – Colombia
Authors: Fontalvo Hererra Tomás José , Morelos Gómez José , Olivos Aarón Saúl 
Published: August 2019

In this investigation, the efficiency of midsize companies in the free-trade-zones of Barranquilla was analyzed. For this, a model supported by Data Envelopment Analysis structure (DEA) was proposed which required a rational analysis to define input and output variables in order to measure and test the efficiency of 63 companies under study in 2016 and 2017. The Chamber of Commerce of Barranquilla with which an empirical analysis was performed to measure the efficiency of the sector provided primary information. The research showed that from 2016-2017 the percentage of efficient enterprises improved from 11.11% to 17.46% while 6.34% of companies maintain their efficiency, 42.85% showed improvements and 50. 79% of companies decreased their efficiency.
Influence of motivations for social media use on cyberbullying behaviours among undergraduates in Malaysian public universities
Authors: Adebayo David Obafemi , Ninggal Mohd Tajudin , Bolu-Steve Foluke Nike 
Published: August 2019

In modern times, social media platforms have become veritable tools of communication and interaction amongst young adults in the university environment as well as the larger society. However, the platform has continued to cause serious psychological and emotional trauma to users through cyberbullying activities. This study examined the influence of motivations for social media use on cyberbullying behaviours (CBB) among undergraduates in Malaysian public universities. It was a quantitative type and it adopted survey design. A total sample of 400 undergraduates were purposively selected from Universiti Teknologi Malaysia. Self-designed questionnaire entitled Motivation for social media use and CBB was used for data collection. Data were analysed using Structural Equation Modelling Partial Least Squares 3. The findings revealed that undergraduates were more socially motivated for social media activities than for academic motives; thus, the reason for experiences of cyberbullying. Also, there was a significant relationship between motivations for social media use and CBB.
Keywords: Motivation, social media use, cyberbullying behaviours, public universities.
FAKTOR-FAKTOR YANG MEMPENGARUHI PENGAMBILAN KEPUTUSAN BERMIGRASI MASYARAKAT MADURA KE KELURAHAN BURING KECAMATAN KEDUNG KANDANG KOTA MALANG TAHUN 2017
Authors: Tyas Ratri Ning , Triwahyudianto Triwahyudianto 
Published: August 2019

Tujuan penelitian ini adalah untuk mengetahui lebih dalam alasan migran Madura bermigrasi ke Kelurahan Buring Kota Malang dengan melihat dari faktor pendorong dan penarik.Teknik pengumpulan data menggunakan observasi, wawancara dan data dokumentasi. Analisis data menggunakan model analisis kualitatif untuk keabsahan temuan menggunakan triangulasi. Temuan penelitian bahwa sejarah migran bisa sampai di Buring karena di Madura lahannya panas dan kurang subur sehingga. Ada 6 faktor pendorong yang menyebabkan Madura bermigrasi ke Kota Malang yaitu: kendala pengolahan lahan pertanian, kondisi ekonomi, pendidikan rendah, sarana dan prasarana pendidikan yang kurang memadai, tidak cocok dengan budaya daerah asal, lapangan pekerjaan terbatas. Terdapat 4 faktor penarik dari daerah tujuan yang menarik masyarakat Madura untuk melakukan migrasi yaitu: mendapat pekerjaan yang lebih baik, sarana kenyamanan, kesempatan membuka lapangan pekerjaan, aktivitas kota besar. Dalam pengambilan keputusan yang dilakukan migran ada 3 yaitu keputusan diri sendiri, keputusan orang lain dan keputusan keluarga inti.
Persepsi Dan Partisipasi Masyarakat Kawasan Kampung Warna-Warni Terhadap Upaya Perbaikan
Authors: Julisa Julisa , Parjito Parjito , Putra Dwi Fauzia 
Published: August 2019

Penelitian ini bertujuan untuk (1) mengetahui upaya perbaikan lingkungan RW 02 Kelurahan Jodipan; (2) mengetahui persepsi dan partisipasi masyarakat terhadap upaya perbaikan lingkungan; (3) mengetahui faktor apa saja yang mendorong dan menghambat patisipasi masyarakat terhadap upaya perbaikan lingkungan; (4) mengetahui keterkaitan spasial pengembangan kampung warna warni terhadap aspek kehidupan masyarakat. Metode yang digunakan dalam penelitian ini yaitu pendekatan fenomenalogi dan untuk jenis penelitian menggunakan deskriptif kualitatif. Informan dalam penelitian ini ada 11 orang terdiri dari ketua RW 02, pengelola wisata dan 9 tokoh masyarakat. Analisis data yang digunakan dengan mengumpulkan data, mereduksi data, menyajikan data dan verifikasi data. Peneliti mengambil fokus di RT 6, 7, 9 RW 2 di Kelurahan Jodipan. Hasil penelitian ini yaitu (1) upaya perbaikan lingkungan, meliputi: mengecat dinding rumah dan bekerja sama, membersihkan lingkungan, memasang keramik, mengecat tembok, membangun jembatan Embong, menghiasi tempat berfoto, mengecat pagar dengan beraneka warna, memasang hiasan pintu, dan menambahkan fasilitas tempat selfie; (2) persepsi dan partisipasi masyarakat kampung warna-warni terhadap upaya perbaikan lingkungan, meliputi: membawa perubahan, lingkungan bersih, pemandangan menarik, lingkungan indah, sementara partisipasi yaitu keterlibatan mengecat dinding, mengecat pagar beraneka warna, membuat tempat untuk berfoto dan membersihkan lingkungan; (3) faktor yang mendorong dan menghambat patisipasi masyarakat dalam upaya perbaikan lingkungan: pemahaman, pengetahuan, mendapatkan keuntungan dengan berjualan dan untuk meningkatkan perekonomian, faktor penghambat patisipasi masyarakat yaitu pekerjaan di luar Jodipan, kesalahapahaman/beda pendapat, dan kesibukan pekerjaan; (4) keterkaitan spasial pengembangan kampung warna warni terhadap aspek kehidupan masyarakat: munculnya usaha-usaha kecil sepanjang jalan Jodipan, dan terganggunya ketentraman.
Perceptions and experiences with District Health Information System software to collect and utilize health data in Bangladesh: A qualitative exploratory study
Authors: Begum Tahmina , Khan Shaan Muberra , Adamou Bridgit , Ferdous Jannatul , Parvez Muhammad Masud , Islam Mohammad Saiful , Kumkum Feroza Akhter , Rahman Aminur , Anwar Iqbal 
Published: August 2019

Abstract
Background:
Accurate and high-quality data are important for improving program effectiveness and informing policy.
Bangladesh Health Management information System (HMIS) has adopted District Health Information software 2 (DHIS) in 2009 to capture real-time health service utilization data. However, routinely collected data are being underused because of poor data quality. We aim to understand the facilitators and barriers on implementing DHIS2 as a way to retrieve meaningful and accurate data for the Reproductive, Maternal and Child Health (RMCAH) services.
Methods:
This qualitative study was done among two districts of Bangladesh from September 2017 to 2018. Data collection method were key informant interview (n=11); in-depth interview (n=23); focus group discussion (n=2). Study participants were individuals involved with DHIS2 implementation from the community level to the national level. The data were analyzed thematically.
Results:
DHIS 2could improve the timeliness and completeness of data reporting over time. The reported facilitating factors were strong government commitment, extensive donor support and positive attitude of staffs. Quality checks and feedback loops at multiple levels of data gathering points was helpful to minimize data errors. Introducing dashboard makes the DHIS2 compatible to use as monitoring tool. However, the barriers to DHIS 2 implementation were lack of human resources, slow Internet connectivity, and frequent change of DHIS 2 versions, maintaining both manual and electronic system side by side. The collected data remains incomplete as private health facilities are not covered. The parallel presence of two MISs to report same RMNCAH indicators is a threat to achieve quality data and increases workload.
Conclusion:
The overall insights from this study are expected to contribute to the development of effective strategies for successful DHIS 2 implementation and building responsive HMIS. To sustain the achievements of digital data culture, focused strategic direction is needed. Periodic refresher trainings, incentives for increased performance, automated single reporting system for multiple stakeholders could make the system more user friendly. A national electronic health strategy and implementation framework can facilitate creating a culture of DHIS 2 use for planning, setting priorities, and decision making among stakeholder groups
P53 PROTEIN LEVEL AND EVIDENCE OF ONGOING COAGULATION AMONG HIV-INFECTED PERSONS ACCESSING TREATMENT AT UNIVERSITY OF CALABAR TEACHING HOSPITAL NIGERIA
Authors: Akwiwu Euphoria , Okafor Anthony , Akpotuzor Josephine 
Published: August 2019

Abstract
Objective
The human immunodeficiency virus (HIV) infection has been associated with hemostatic disturbance. In Nigeria, particularly Calabar, not much is known about the nature of these derangement among infected subjects. This study was carried out with a view to assessing tumour suppressing activity and ongoing coagulation among HIV-infected subjects. The data presented is a side product of investigation on morbidity indicators among persons living with HIV infection in Calabar, Nigeria.

Result
The CD4 cell count and P53 protein level reduced while D-dimer level increased in HIV infection. Platelet count also reduced while platelet distribution width increased with the condition. While CD4 cell count improved with Highly Active Antiretroviral Therapy administration, D-dimer level, mean platelet volume and platelet distribution width reduced. This study observed reduced tumour suppression and increased coagulation activities alongside immunosuppression in HIV infection.

Keywords: Coagulation, HIV infection, immunosuppression.
Prevalence of modifiable cardiovascular risk factors in Yazd inner-city municipalities
Authors: Mirzaei Mohsen , Mirzaei Masoud , Sarsangi Ali Reza , Bagheri Nasser 
Published: August 2019

Abstract
Background:
Cardiovascular disease (CVD) is the leading cause of death in the world. With effective intervention and control of cardiovascular risk factors, mortality rates may be reduced. The aim of this study was to investigate the prevalence of modifiable cardiovascular risk factors across five municipalities in Yazd city.
Methods:
10,000 residents of the Yazd greater area aged 20-69 years were selected using cluster random sampling method. Overall, 200 clusters were randomly selected based on the postcodes of residents who lived in the five municipalities of Yazd city. Those who lived in Yazd annexed cities and rural areas were excluded from the study. A valid questionnaire was completed and physical examination performed as done (94.9% response rate). Instances of self-reported diabetes mellitus, high blood cholesterol, tobacco smoking and unhealthy diet were recorded. Blood pressure, height and weight were measured and physical activity was classified by International Physical Activity Questionnaire (IPAQ). A chi-square test was used to analyze the differences in variables across municipalities. All statistical analyses were performed using SPSS V. 16.
Results:
We analyzed 8749 participants’ data from Yazd city. The prevalence of diabetes mellitus, hypercholesterolemia and hypertension in Yazd were 14.1, 16.7 and 18.6%, respectively. One in every four people consumed the recommended five servings of vegetables per day. Fish consumption was less than 5% at least once a week among participants. Unhealthy diet (85.7%); low physical activity (52.2%), hypertension (36.7) and obesity (26.3%) were the most common cardiovascular risk factors.. Only 2.1% of adults had no risk factors for CVD, and almost 75% of people had more than one risk factor. The prevalence of risk factors (excluding hypertension) - was significantly different across the municipalities. Residents of region 3 in the study area had the highest prevalence of all risk factors aside from low physical activity and unhealthy food patterns.
Conclusion:
Two-thirds of Yazd population had two or more cardiovascular risk factors and significant spatial variations observed across different urban areas in Yazd. This geographic health inequality requires more attention from policy makers to control risk actors and prevent non-communicable disease across different municipalities accordingly.
Abdominal Surgery Needs Extracorporeal Life Support as a Final Back-up
Authors: Lin Chih-Hao , Wu Ming-Hsun , Chen Po Da , Wu Jing Ming , Lin Ming-Tsan 
Published: August 2019

Abstract
Background: There are very limited published data regarding the experience of extracorporeal membrane oxygenation (ECMO) after abdominal surgery. Our objective was to examine the clinical application and outcome of ECMO in patients deteriorating early after abdominal surgery.
Methods: Between 1998 and 2018, patients who had ECMO implantation within 30 days after abdominal surgery were enrolled. Clinical outcomes, patient demographics, ECMO types and indications, laboratory findings and other relevant aspects of their medical histories were reviewed.
Results: Sixteen patients aged between 20 and 77 years were enrolled, including 11 patients who underwent elective surgery and 5 who underwent emergency laparotomies. Six veno-arterial ECMO (VA-ECMO) and 10 veno-venous ECMO (VV-ECMO) devices were implanted for refractory hypotension or acute respiratory distress syndrome (ARDS) based on the clinical discretion of the attending physician. After timely diagnosis of the aetiology underlying the deterioration, 4 additional salvage interventions were allowed under ECMO support. Three VA-ECMO and 5 VV-ECMO patients were successfully weaned, while 5 patients (31.25%) survived to hospital discharge without significant sequelae. Patients who survived to discharge had a significant inotropic dose taper on day two after ECMO implantation (59.4 versus 1.3 mcg/kg/min, p = 0.0487). ECMO-related complications included 3 implantation wound haematomas, limb ischaemia requiring wound debridement and reperfusion catheter insertion. There was no intra-abdominal bleeding or major thromboembolic event in our series.
Conclusions: ECMO gave surgeons additional chances to treat reversible cause of sudden patient collapse after the timely diagnosis of the cause. No patients in our cohort encountered serious ECMO-related complications. Our study demonstrated that ECMO may be used as a final back-up for sudden deterioration after abdominal surgery.