bluuebunny/crossref_metadata_2025_split huggingface dataset:
The spectrum of intermediate SCN8A‐related epilepsy
Authors: Johannesen Katrine M. , Gardella Elena , Encinas Alejandra C. , Lehesjoki Anna‐Elina , Linnankivi Tarja , Petersen Michael B. , Lund Ida Charlotte Bay , Blichfeldt Susanne , Miranda Maria J. , Pal Deb K. , Lascelles Karine , Procopis Peter , Orsini Alessandro , Bonuccelli Alice , Giacomini Thea , Helbig Ingo , Fenger Christina D. , Sisodiya Sanjay M. , Hernandez‐Hernandez Laura , Krithika Sundararaman , Rumple Melissa , Masnada Silvia , Valente Marialuisa , Cereda Cristina , Giordano Lucio , Accorsi Patrizia , Bürki Sarah E. , Mancardi Margherita , Korff Christian , Guerrini Renzo , von Spiczak Sarah , Hoffman‐Zacharska Dorota , Mazurczak Tomasz , Coppola Antonietta , Buono Salvatore , Vecchi Marilena , Hammer Michael F. , Varesio Costanza , Veggiotti Pierangelo , Lal Dennis , Brünger Tobias , Zara Federico , Striano Pasquale , Rubboli Guido , Møller Rikke S. 
Published: April 2019

SummaryObjectivePathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A‐related epilepsies.MethodsA cohort of 1095 patients were screened using a next generation sequencing panel. Further patients were ascertained from a network of epilepsy genetics clinics. Patients with severe DEE and BFIS were excluded from the study.ResultsWe found 36 probands who presented with an SCN8A‐related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). All patients presented with epilepsy between age 1.5 months and 7 years (mean = 13.6 months), and 58% of these became seizure‐free, two‐thirds on monotherapy. Neurological disturbances included ataxia (28%) and hypotonia (19%) as the most prominent features. Interictal electroencephalogram was normal in 41%. Several recurrent variants were observed, including Ile763Val, Val891Met, Gly1475Arg, Gly1483Lys, Phe1588Leu, Arg1617Gln, Ala1650Val/Thr, Arg1872Gln, and Asn1877Ser.SignificanceWith this study, we explore the electroclinical features of an intermediate SCN8A‐related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.
Determinants of IQ outcome after focal epilepsy surgery in childhood: A longitudinal case‐control neuroimaging study
Authors: Skirrow Caroline , Cross J. Helen , Owens Rosie , Weiss‐Croft Louise , Martin‐Sanfilippo Patricia , Banks Tina , Shah Emily , Harkness William , Vargha‐Khadem Faraneh , Baldeweg Torsten 
Published: April 2019

SummaryObjectiveIntelligence quotient (IQ) outcomes after pediatric epilepsy surgery show significant individual variation. Clinical factors such as seizure cessation or antiepileptic medication discontinuation have been implicated, but do not fully account for the heterogeneity seen. Less is known about the impact of neurobiological factors, such as brain development and resection location. This study examines clinical and neuroimaging factors associated with cognitive outcome after epilepsy surgery in childhood.MethodsFifty‐two children (28 boys, 24 girls) were evaluated for epilepsy surgery and reassessed on average 7.7 years later. In the intervening time, 13 were treated pharmacologically and 39 underwent focal surgery (17 temporal, 16 extratemporal, six multilobar; mean age at surgery = 14.0 years). Pre‐ and postsurgical assessments included IQ tests and T1‐weighted brain images. Predictors of IQ change were investigated, including voxel‐based analyses of resection location, and gray and white matter volume change.ResultsOverall modest IQ improvement was seen in children treated surgically, but not in those treated pharmacologically only. Applying a ≥10‐point change threshold, 39% of the surgically treated children improved, whereas 10% declined. Clinical factors associated with IQ increases were lower preoperative IQ and longer follow‐up duration, whereas seizure and antiepileptic medication cessation were not predictive. Among neuroimaging factors, we observed that left anterior temporal resections impacted negatively on verbal reasoning, linked to full‐scale IQ decline. In contrast, gray matter volume change in ipsi‐ and contralesional hemispheres was positively correlated with IQ change. Voxel‐based morphometry identified the gray matter volume change in the contralesional dorsolateral frontal cortex as most strongly associated with IQ improvement.SignificanceWe show that a variety of factors are likely to contribute to patterns of postsurgical change in IQ. Neuroimaging results indicate that left anterior temporal resections constrain development of verbal cognition, whereas simultaneously cortical growth after surgical treatment can support improvements in IQ.
Creating sentiment lexicon for sentiment analysis in Urdu: The case of a resource‐poor language
Authors: Asghar Muhammad Zubair , Sattar Anum , Khan Aurangzeb , Ali Amjad , Masud Kundi Fazal , Ahmad Shakeel 
Published: April 2019

AbstractThe sentiment analysis (SA) applications are becoming popular among the individuals and organizations for gathering and analysing user's sentiments about products, services, policies, and current affairs. Due to the availability of a wide range of English lexical resources, such as part‐of‐speech taggers, parsers, and polarity lexicons, development of sophisticated SA applications for the English language has attracted many researchers. Although there have been efforts for creating polarity lexicons in non‐English languages such as Urdu, they suffer from many deficiencies, such as lack of publically available sentiment lexicons with a proper scoring mechanism of opinion words and modifiers. In this work, we present a word‐level translation scheme for creating a first comprehensive Urdu polarity resource: “Urdu Lexicon” using a merger of existing resources: list of English opinion words, SentiWordNet, English–Urdu bilingual dictionary, and a collection of Urdu modifiers. We assign two polarity scores, positive and negative, to each Urdu opinion word. Moreover, modifiers are collected, classified, and tagged with proper polarity scores. We also perform an extrinsic evaluation in terms of subjectivity detection and sentiment classification, and the evaluation results show that the polarity scores assigned by this technique are more accurate than the baseline methods.
A knowledge construction methodology to automate case‐based learning using clinical documents
Authors: Ali Maqbool , Hussain Jamil , Lee Sungyoung , Kang Byeong Ho , Sattar Kashif 
Published: April 2019

AbstractThe case‐based learning (CBL) approach has gained attention in medical education as an alternative to traditional learning methodology. However, current CBL systems do not facilitate and provide computer‐based domain knowledge to medical students for solving real‐world clinical cases during CBL practice. To automate CBL, clinical documents are beneficial for constructing domain knowledge. In the literature, most systems and methodologies require a knowledge engineer to construct machine‐readable knowledge. Keeping in view these facts, we present a knowledge construction methodology (KCM‐CD) to construct domain knowledge ontology (i.e., structured declarative knowledge) from unstructured text in a systematic way using artificial intelligence techniques, with minimum intervention from a knowledge engineer. To utilize the strength of humans and computers, and to realize the KCM‐CD methodology, an interactive case‐based learning system(iCBLS) was developed. Finally, the developed ontological model was evaluated to evaluate the quality of domain knowledge in terms of coherence measure. The results showed that the overall domain model has positive coherence values, indicating that all words in each branch of the domain ontology are correlated with each other and the quality of the developed model is acceptable.
Population recovery, seasonal site fidelity, and daily activity of pirarucu (Arapaima spp.) in an Amazonian floodplain mosaic
Authors: Campos‐Silva João Vitor , Hawes Joseph E. , Peres Carlos A. 
Published: April 2019

Abstract

Pirarucu (Arapaima spp.) are the world's largest scaled freshwater fish, reaching 3 m in length and >200 kg in weight. Historical overfishing has devastated populations of this remarkable fish across Amazonian floodplains, but community‐based management programmes are now stimulating the recovery of wild populations.

Pirarucu have evolved a unique set of life history traits, some of which have important implications for population management. Individuals exhibit lateral annual migration patterns during the prolonged annual flood pulse, entering flooded forests to reproduce and forage. During this period, although managed fish stocks become less monopolisable by local communities responsible for managing protected lakes, pirarucu can occupy and reproduce in new environments and thus potentially contribute to population recovery.

Here, we show a strong pattern of pirarucu (Arapaima cf. gigas) population recovery under community‐based management in an area along the Juruá River, in western Brazilian Amazonia. We show evidence of population recovery even outside formal protected areas, reinforcing the suitability of pirarucu community‐based management as a powerful tool for both biodiversity conservation and the improvement of local livelihoods. We also show pirarucu movements across a floodplain mosaic—including lakes, the main river channel, tributary streams, and flooded forests—during the wet season.

Our results support evidence of site fidelity among migrating pirarucu, justifying the high effort invested by local communities in seasonally protecting lakes from poachers and illegal fishers. Finally, restricted daily movement patterns by pirarucu support the suitability of population estimates based on day‐time counts because the chance of double counting is substantially reduced during the day when these counts are conducted. We highlight the strong suitability of this species for community‐based management, since they can: (1) replenish new environments during the wet season through migration and possibly also reproduction; and (2) be efficiently harvested during the dry season, delivering social and ecological benefits at large spatial scales.

Positive examples of fisheries management, which align biodiversity conservation and social development, are important for building optimism, and influencing local and international stakeholders. Our study shows how engaging and empowering local communities to help monitor the movement ecology of target species can be an effective strategy to support the sustainable management of aquatic resources in tropical environments.
Association of olfactory impairment with indexes of sarcopenia and frailty in community‐dwelling older adults
Authors: Harita Masayuki , Miwa Takaki , Shiga Hideaki , Yamada Kentaro , Sugiyama Eriko , Okabe Yuki , Miyake Yuko , Okuno Tazuo , Iritani Osamu , Morimoto Shigeto 
Published: April 2019

AimIndividuals with olfactory or gustatory impairment often have associated difficulties with food‐related activities. As both functions decline in older adults, we investigated the association of these impairments with sarcopenia/frailty indexes in community‐dwelling older adults.MethodsA total of 141 participants (69 men and 72 women, mean age 73.0 years) were enrolled. Odor identification was examined using the Open Essence test. Salty and sweet tastes were assessed using a whole‐mouth gustatory test. Participants underwent evaluation of the appendicular skeletal muscle mass index (ASMI) by InBody720 and grip strength, and determination of the Study of Osteoporotic Fractures frailty index.ResultsParticipants with olfactory impairment (Open Essence ≤7), but not with gustatory impairment, showed a significantly higher prevalence of ASMI and grip strength less than the cut‐off values recommended by the Asian Working Group for Sarcopenia, and Study of Osteoporotic Fractures frailty and/or pre‐frailty status, compared with those without impairment. Multivariate logistic regression analysis showed a significant association of olfactory impairment with ASMI less than the cut‐off value, grip strength less than the cut‐off value, Asian Working Group for Sarcopenia sarcopenia and pre‐frailty/frailty in the Study of Osteoporotic Fractures index in the whole population, and with ASMI less than the cut‐off value and Asian Working Group for Sarcopenia sarcopenia in women, after adjustment. Three (Japanese cypress, wood and roasted garlic) and four (Japanese orange, India ink, menthol and curry) Open Essence odorants were elucidated as the “sarcopenia subset” and “frailty subset,” respectively, and showed higher ability to identify sarcopenia and frailty status, compared with the remaining five odorants.ConclusionsThese findings suggest that olfactory impairment is closely associated with sarcopenia and/or frailty in community‐dwelling older adults. Geriatr Gerontol Int 2019; 19: 384–391.
Wide local excision prior to sentinel lymph node biopsy for primary melanoma of the head and neck
Authors: May Matthew M. , Lohse Christine M. , Moore Eric J. , Price Daniel L. , Van Abel Kathryn M. , Brewer Jerry D. , Janus Jeffrey R. 
Published: April 2019

AbstractBackgroundPrevious wide local excision prior to sentinel lymph node biopsy (SLNB) may have the potential to disrupt lymphatic channels, thus incorrectly identifying the sentinel node. The purpose of this study was to investigate: (1) regional recurrence rates of prior wide local excision compared to other biopsy techniques and (2) survival outcomes in patients with melanoma of the head and neck.MethodsBetween the years 2000 and 2016, 391 cases were reviewed with a median follow‐up time of 30 months in a large tertiary care center. Biopsy practices included shave, punch, wide local excision, and narrow margin excisional/Mohs, and associations with time to local or regional relapse and death from melanoma were evaluated. Main outcomes included identification of sentinel lymph nodes, overall survival, and melanoma‐specific survival.ResultsOf the 391 patients, biopsy patterns were as follows: 77 (19%) unknown biopsy, 30 (8%) prior wide local excision (WLE), 105 (27%) narrow margin excisional biopsy, 69 (18%) punch biopsy, and 110 (28%) shave biopsy. SLNB was successfully identified in all 30 patients whom had a prior WLE. There were 50 regional recurrences in the neck and 27 local recurrences with the median (IQR) at 1.2 years and 1.0 years, respectively. Multivariable associations of type of prior biopsy, depth of invasion, and nodal status with time to regional recurrence, local recurrence, overall survival, and melanoma‐specific survival were not significantly different.ConclusionsSentinel lymph node biopsy for melanoma of the head and neck can be successfully performed in patients after previous wide local excision.
Importance of prognostic stratification via gene mutation analysis in elderly patients with acute myelogenous leukemia
Authors: Fujiwara Yusuke , Yamaguchi Hiroki , Yui Shunsuke , Tokura Taichiro , Inai Kazuki , Onai Daishi , Omori Ikuko , Marumo Atsushi , Yamanaka Satoshi , Sakaguchi Masahiro , Terada Kazuki , Nakagome Shun , Arai Kunihito , Kitano Tomoaki , Okabe Masahiro , Okamoto Muneo , Tamai Hayato , Nakayama Kazutaka , Tajika Kenji , Wakita Satoshi , Inokuchi Koiti 
Published: April 2019

AbstractIntroductionAcute myelogenous leukemia (AML) in elderly patients is associated with an increased incidence of complications and treatment‐related toxicity because of the frequency of comorbid disease and age‐related deterioration in organ function. Despite advances in AML treatment in recent years, elderly patients have experienced limited benefit, and their outcomes remain poor. This study aimed to perform a comprehensive gene mutation analysis in elderly AML patients and identify gene mutations that could serve as prognostic factors.MethodsAn analysis of gene mutations was performed for 281 AML patients, including 98 elderly patients aged 65 years or above.ResultsCompared to younger AML patients, elderly patients showed a higher frequency of the following gene mutations: TP53 (P = 0.026), PTPN11 (P = 0.006), RUNX1 (P = 0.024), TET2 (P = 0.002), and ASXL1 (P = 0.023). The complete remission rate was significantly lower in DNMT3A mutation‐positive cases (4.26%, P = 0.011) and TP53 mutation‐positive cases (2.13%, P = 0.031) than in negative cases. The overall survival rate was significantly poorer in cases with FLT3‐ITD (P = 0.003), DNMT3A (P = 0.033), or TP53 mutation (P < 0.001). Conversely, cases with PTPN11 mutation (P = 0.014) had a significantly more favorable prognosis. In multivariate analysis, FLT3‐ITD (P = 0.011) and TP53 mutation positivity (P = 0.002) were independent poor prognostic factors, as were a performance status of 3 or above (P < 0.001) and poor cytogenetic prognosis (P = 0.001). In contrast, PTPN11 mutation positivity (P = 0.023) was an independent favorable prognosis factor.ConclusionAnalysis of gene mutations in elderly AML patients is very important, not only for establishing prognosis, but also for introducing appropriate molecular‐targeted treatments.
EU Children in Brexit Britain: Re‐Negotiating Belonging in Nationalist Times
Authors: Zontini Elisabetta , Però Davide 
Published: April 2019

AbstractThis article contributes to debates on identification, home and belonging by focusing on EU children in Brexit times.1 The article combines attention to the emotional and affective side of integration with a focus on the effects of the discursive practices of the state on these processes. The article explores how Italian children and their parents navigate the increasingly neo‐assimilationist pressures in Britain. Specifically, it looks at children's ways of accommodating their parents’ values of mobility, multilingualism and transnationalism with the revived nationalist logic now dominant. The article argues for renewed scrutiny into the role of public discourses on migrants’ experiences, which illuminate the redrawing of the boundaries between inclusion and exclusion at moments of crisis.
Ferroelectricity driven by soft phonon and spin order in multiferroic BiMn3Cr4O12
Authors: Dai Jian‐Qing , Zhang Chang‐Chang 
Published: April 2019

AbstractBiMn3Cr4O12 shows an unusual joint multiferroicity, which facilitates the coexistence of considerable ferroelectric polarization and remarkable magnetoelectric coupling in a single‐phase multiferroic material. Based on first‐principles calculations, we investigate the two different types of ferroelectric phase transitions in the BiMn3Cr4O12 material. Our results show that the first ferroelectric phase transition is driven by soft mode and leads BiMn3Cr4O12 into the Cm space group. The predicted ferroelectric polarization in single crystal is about ~9.8 μC/cm2. With the emergence of spin order on both Mn and Cr sublattices, it is the polar Cm structure that triggers the exchange striction mechanism and therefore results in a large type‐II multiferroicity (~1.1 μC/cm2). In addition, the intrinsic direction of the spin‐driven ferroelectric polarization is always opposite to that of the existing Cm phase structure. Our results imply a feasible strategy in searching/designing novel type‐II multiferroics with large ferroelectric polarization.
Tabula rasa in the Patagonian Channels II: The cushion peat bog species Astelia pumila (Asteliaceae) and Donatia fascicularis (Stylidiaceae) survived the last glacial in south‐central Chile
Authors: Pfanzelt Simon , Šarhanová Petra , Albach Dirk C. , von Hagen K. Bernhard 
Published: April 2019

AbstractAimPlant phylogeographic data from the Patagonian Channels are scant and it is largely unknown how the extensive Quaternary glaciations affected the population dynamics of the region's major vegetation component, that is cushion peat bogs (Magellanic moorland). Whether ice‐age glaciers wiped out all terrestrial plant life or whether some populations persisted in situ remains unclear. We reconstructed the phylogeography of two dominant Patagonian cushion peat bog species, Astelia pumila (G.Forst.) Gaudich. (Asteliaceae) and Donatia fascicularis J.R.Forst. & G.Forst. (Stylidiaceae), to test (a) the hypothesis of a glacial refugium for moorland plants in south‐central Chile and (b) the tabula rasa scenario for the Patagonian Channels. The retrieved phylogeographic patterns were compared with those reported previously for a further cushion peat bog species (Pfanzelt et al., Molecular Ecology 26, 4027–4044), with the objective to provide a broader picture of how West Patagonian moorland plants responded to the Quaternary ice‐ages.LocationWest and Fuegian Patagonia, and the Falkland Islands (Islas Malvinas), southern South America.MethodsDNA sequence data from seven and fourteen, respectively, nuclear loci containing Simple Sequence Repeats of 371 and 328 individuals of the two study species were analysed using population genetic summary statistics, phylogenetic networks and Bayesian and multivariate methods to determine genetic structure. Ecological niche modelling was used to reconstruct the spatial distribution of suitable habitat at the Last Glacial Maximum.ResultsAll A. pumila populations belong to a single population genetic cluster. In the case of D. fascicularis, only the northernmost sampled population from Nahuelbuta (Chile) is genetically distinct, whereas the remainder forms a cluster without much further substructure. According to palaeodistribution models, south‐central Chile offered suitable habitat during the last glacial.Main conclusionBoth ecological niche modelling and the very low genetic subdifferentiation are congruent with a tabula rasa scenario for the Patagonian Channels. Populations survived the last glacial in south‐central Chile, in an area to the northwest of the ice sheet. From there, southern regions were recolonized through highly bottlenecked source populations. Other, non‐mutually exclusive factors may have further shaped the population genetic patterns, among them high gene flow mediated by the strong westerly winds.
Concerns most important to parents after their child's suicide attempt: A pilot study and collaboration with a rural mental health facility
Authors: Hickey Kari , Rossetti Jeanette , Musker Kathy 
Published: April 2019

AbstractProblemLittle is known of the needs of parents after their child has made a suicide attempt. The goal of this research was to create and pilot an acceptable and effective survey for parents whose child has made a suicide attempt so that their needs and concerns are known.MethodThe Social‐Ecological Model was used as a framework to better understand the problem of adolescent suicide from the parent perspective. Collaboration with interdisciplinary staff at a rural mental health facility in the United States occurred to create and pilot the survey tool with content and practice experts validating the survey questions.FindingsFive parents completed the pilot survey. Results showed that parents have unmet needs after their child's suicide attempt; reporting the need to ensure safety for their child and the need for understanding how to help their child. Parents stated interest in attending a focus group to discuss their needs and noted transportation and childcare being primary barriers to attending a focus group.ConclusionResults from this research will inform the planning focus groups of parents whose child has made suicide attempt.