bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients
Authors: ten Dam Leroy , Frankhuizen Wendy S. , Linssen Wim H.J.P. , Straathof Chiara S. , Niks Erik H. , Faber Karin , Fock Annemarie , Kuks Jan B. , Brusse Esther , de Coo René , Voermans Nicol , Verrips Aad , Hoogendijk Jessica E. , van der Pol Ludo , Westra Dineke , de Visser Marianne , van der Kooi Anneke J. , Ginjaar Ieke 
Published: March 2019

AbstractIn this retrospective study, we conducted a clinico‐genetic analysis of patients with autosomal recessive limb‐girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand‐dependent probe amplification (MLPA) analysis. A total of 244 patients was identified; 68 LGMDR1/LGMD2A patients with CAPN3 mutations (28%), 67 sarcoglycanopathy patients (LGMDR3‐5/LGMD2C‐E) (27%), 64 LGMDR12/LGMD2L and MMD3 patients with ANO5 mutations (26%), 25 LGMDR2/LGMD2B and MMD1 with DYSF mutations (10%), 21 LGMDR9/LGMD2I with FKRP mutations (9%) and one LGMDR8/LGMD2H patient with TRIM32 mutations (<1%). The estimated minimum prevalence of AR‐LGMD and MMD in the Netherlands amounted to 14.4 × 10−6. Thirty‐three novel mutations were identified. A wide range in age of onset (0‐72 years) and loss of ambulation (5‐74 years) was found. Fifteen patients (6%) initially presented with asymptomatic hyperCKemia. Cardiac abnormalities were found in 35 patients (17%). Non‐invasive ventilation was started in 34 patients (14%). Both cardiac and respiratory involvement occurs across all subtypes, stressing the need for screening in all included subtypes.
Primär kutanes diffus‐großzelliges B‐Zell‐Lymphom, NOS oder leg type: klinische, morphologische und prognostische Unterschiede
Authors: Felcht Moritz , Klemke Claus‐Detlev , Nicolay Jan Peter , Weiss Christel , Assaf Chalid , Wobser Marion , Schlaak Max , Hillen Uwe , Moritz Rose , Tantcheva‐Poor Iliana , Nashan Dorothee , Beyer Marc , Dippel Edgar , Müller Cornelia Sigrid Lissi , Sachse Michael Max , Meiss Frank , Géraud Cyrill , Marx Alexander , Goerdt Sergij , Geissinger Eva , Kempf Werner 
Published: March 2019

ZusammenfassungHintergrund und ZieleDas primär kutane diffus‐großzellige B‐Zell‐Lymphom, NOS (PCLBCL/NOS) ist ein seltenes PCLBCL. Über diesen Tumor liegen nur wenige Daten vor. Ziel dieser Studie war es, klinische und/oder immunhistochemische Marker (neben Bcl‐2) zu identifizieren, die das PCLBCL/NOS charakterisieren und helfen es vom PCLBCL/leg type (PCLBCL/LT) zu unterscheiden. Dabei sollten auch der klinische Verlauf und die Prognose des PCLBCL/NOS näher untersucht werden.Patienten und MethodenFälle von Bcl‐2– PCLBCL/NOS (n = 14) wurden mit Bcl‐2+ PCLBCL/LT‐Fällen (n = 29) verglichen.ErgebnissePCLBCL/NOS‐Patienten waren jünger, vorwiegend männlich und wiesen eine bessere Überlebensrate auf als Patienten mit PCLBCL/LT. Patienten mit PCLBCL/NOS stellten sich häufiger mit größeren Plaques vor, die auf eine oder zwei zusammenhängende Körperregionen beschränkt waren, während sich PCLBCL/LT‐Patienten oft mit disseminierten Hautläsionen präsentierten. PCLBCL/LT Tumorzellen wiesen eine höhere Proliferationsrate (Ki67) auf. Das Tumormikromilieu von PCLBCL/NOS Tumoren war charakterisiert durch ein höheres CD3+ Infiltrat. Daten zum Überleben konnten für 37 Patienten eruiert werden. Die Analysen der Gesamtüberlebensraten ergaben, dass weibliches Geschlecht und Bcl‐2‐Expression mit einer ungünstigeren Überlebensrate korrelierten. Bcl‐6‐Expression und zentroblastischer Subtyp korrelierten mit einem besseren Überleben. Keiner der sonstigen untersuchten Marker (z. B. GCB‐/Non‐GCB‐Subtyp) korrelierte mit der Überlebensrate.SchlussfolgerungenPCLBCL/NOS und PCLBCL/LT unterscheiden sich in ihrem klinischen Verlauf und ihrer Prognose. Bcl‐2 scheint immer noch der beste Marker zur Unterscheidung zwischen diesen beiden Subgruppen zu sein. Bcl‐2, weibliches Geschlecht und Bcl‐6 sind prognostische Marker für PCLBCL.
Motivations to quit smoking and challenges faced during cessation among individuals with first episode psychosis in Singapore
Authors: Sagayadevan Vathsala , Abdin Edimansyah , Shahwan Shazana , Satghare Pratika , Devi Fiona , Cetty Laxman , Sendren Jagan R. , Verma Swapna K. , Chong Siow Ann , Subramaniam Mythily 
Published: March 2019

AimsThe prevalence of smoking has been noted to be higher among individuals with mental illness, particularly among those with schizophrenia and related psychosis than in the general population. The present paper sought to examine the motivations and challenges to quit smoking among first episode psychosis patients (N = 281) enrolled in the Early Psychosis Intervention Programme (EPIP) in Singapore.MethodsQuestionnaires were used to collect details on an individual's smoking status, cessation attempts, motivations to quit, and challenges to stop smoking. Using baseline data, multiple linear regressions were conducted to examine the socio‐demographic correlates of motivations and challenges of smoking cessation behaviour.ResultsOf the study sample, 59.4% reported to have never smoked while 39.9% were currently smoking or had attempted smoking. Health reasons and cost were the most highly endorsed motivations to stop smoking; whereas cravings, stress, and boredom were highly endorsed as challenges to stop smoking. Socio‐demographic factors such as age, educational level, and marital status were also found to be associated with the motivations to stop smoking and challenges faced during smoking cessation.ConclusionsThe present study highlights the most highly endorsed motivations and challenges reported among individuals with first episode psychosis (FEP) in an Asian population. Given that the literature examining motivations and challenges to quit smoking has predominantly focused on the general population, results from the current study have implications for the formulation of smoking cessation programmes targeted at individuals with mental illness, particularly those with FEP.
Designing easy access to care for first‐episode psychosis in complex organizations
Authors: Romm Kristin L. , Gardsjord Erlend S. , Gjermundsen Kristine , Aguirre Ulloa Manuela , Berentzen Lars‐Christian , Melle Ingrid 
Published: March 2019

AimsDeveloping early intervention services (EIS) in healthcare organizations (HCOs) is difficult because it is necessary to integrate service approaches across units. To accommodate the needs of patients and relatives, Oslo University Hospital (OUH) chose to use service design (SD) to redesign their first‐episode services with an emphasis on easy access to care. This paper discusses the results and how SD can help to overcome known barriers to change in complex organizations.MethodSD is a method that relies on principles of participation, innovation and visualization to develop coherent services. The method emphasizes the exploration of a problem area from the perspective of multiple stakeholders to create a shared understanding of the complexity. Idea generation, visualization and early modelling of possible solutions are employed to test alternatives involving stakeholders.ResultsA low threshold EIS was developed. A helpline with a specialist managing the phone was established. High‐quality assessment regarding possible psychosis development was thus made available to patients, relatives and professionals, eliminating the need for paper referral. This approach was supported by a communication strategy that includes web‐based information. A dedicated cross‐specialist team was established to increase collaboration in complex cases. Finally, outreach services were improved.ConclusionSD is a suitable method to incorporate the views of different stakeholders (patients, relatives and professionals) to develop EIS services in complex organizations and can help overcome known barriers to change in HCOs.
Substance‐Induced Psychosis: Clinical‐Racial Subjectivities and Capital in Diagnostic Apartheid
Authors: Hansen Helena 
Published: March 2019

AbstractThis article examines the ways in which psychiatrists differentially deploy schizophrenia and addiction diagnoses among white, privately insured patients in comparison with black and Latino patients in a public psychiatric unit. Drawing on critical race theory and the anthropology of moral agency, the article tracks the ways in which the overlapping and competing diagnostic frames of schizophrenia and addiction are structured by, and structure, the personhood and political position of those who are subjected to them. It ends by identifying and tracking these logics of diagnosis and treatment, and their racially stratifying influence, in recent calls for integration of mental health with physical health care. Enhancing the agency of people who are subject to psychiatric diagnoses, and dampening the racializing and segregating impulse of diagnoses, ultimately requires clinical rejection of codified “evidence‐based medicine” in favor of spaces that serve, following Cheryl Mattingly, as moral laboratories for creating social selves.
STAT3 signalling pathway is implicated in keloid pathogenesis by preliminary transcriptome and open chromatin analyses
Authors: Lee Yun‐Shain , Liang Ya‐Chen , Wu Ping , Kulber David A. , Tanabe Kylie , Chuong Cheng‐Ming , Widelitz Randall , Tuan Tai‐Lan 
Published: March 2019

AbstractKeloids are wounding‐induced fibroproliferative human tumor‐like skin scars of complex genetic makeup and poorly defined pathogenesis. To reveal dynamic epigenetic and transcriptome changes of keloid fibroblasts, we performed RNA‐seq and ATAC‐seq analysis on an early passage keloid fibroblast cell strain and its paired normal control fibroblasts. This keloid strain produced keloid‐like scars in a plasma clot‐based skin equivalent humanized keloid animal model. RNA‐seq analysis reveals gene ontology terms including hepatic fibrosis, Wnt‐β‐catenin, TGF‐β, regulation of epithelial‐mesenchymal transition (EMT), STAT3 and adherens junction. ATAC‐seq analysis suggests STAT3 signalling is the most significantly enriched gene ontology term in keloid fibroblasts, followed by Wnt signalling (Wnt5) and regulation of the EMT pathway. Immunohistochemistry confirms that STAT3 (Tyr705 phospho‐STAT3) is activated and β‐catenin is up‐regulated in the dermis of keloid clinical specimens and keloid skin equivalent implants from the humanized mouse model. A non‐linear dose‐response of cucurbitacin I, a selective JAK2/STAT3 inhibitor, in collagen type I expression of keloid‐derived plasma clot‐based skin equivalents implicates a likely role of STAT3 signalling in keloid pathogenesis. This work also demonstrates the utility of the recently established humanized keloid mouse model in exploring the mechanism of keloid formation.
Big data solar power forecasting based on deep learning and multiple data sources
Authors: Torres José F. , Troncoso Alicia , Koprinska Irena , Wang Zheng , Martínez‐Álvarez Francisco 
Published: March 2019

AbstractIn this paper, we consider the task of predicting the electricity power generated by photovoltaic solar systems for the next day at half‐hourly intervals. We introduce DL, a deep learning approach based on feed‐forward neural networks for big data time series, which decomposes the forecasting problem into several sub‐problems. We conduct a comprehensive evaluation using 2 years of Australian solar data, evaluating accuracy and training time, and comparing the performance of DL with two other advanced methods based on neural networks and pattern sequence similarity. We investigate the use of multiple data sources (solar power and weather data for the previous days, and weather forecast for the next day) and also study the effect of different historical window sizes. The results show that DL produces competitive accuracy results and scales well, and is thus a highly suitable method for big data environments.
A systematic review on deep learning architectures and applications
Authors: Khamparia Aditya , Singh Karan Mehtab 
Published: March 2019

AbstractThe amount of digital data in the universe is growing at an exponential rate, doubling every 2 years, and changing how we live in the world. The information storage capacity and data requirement crossed the zettabytes. With this level of bombardment of data on machine learning techniques, it becomes very difficult to carry out parallel computations. Deep learning is broadening its scope and gaining more popularity in natural language processing, feature extraction and visualization, and almost in every machine learning trend. The purpose of this study is to provide a brief review of deep learning architectures and their working. Research papers and proceedings of conferences from various authentic resources (Institute of Electrical and Electronics Engineers, Wiley, Nature, and Elsevier) are studied and analyzed. Different architectures and their effectiveness to solve domain specific problems are evaluated. Various limitations and open problems of current architectures are discussed to provide better insights to help researchers and student to resume their research on these issues. One hundred one articles were reviewed for this meta‐analysis of deep learning. From this analysis, it is concluded that advanced deep learning architectures are combinations of few conventional architectures. For example, deep belief network and convolutional neural network are used to build convolutional deep belief network, which has higher capabilities than the parent architectures. These combined architectures are more robust to explore the problem space and thus can be the answer to build a general‐purpose architecture.
Headache Triggers as Surprise
Authors: Turner Dana P. , Lebowitz Adriana D. , Chtay Ivana , Houle Timothy T. 
Published: March 2019

ObjectivesTo examine the hypothesis that surprising experiences of headache triggers are associated with daily headache activity.BackgroundLittle is known about the specific environmental or behavioral interactions that might trigger a headache attack in a prone individual. We propose that headache trigger exposures can be usefully characterized, not only by their mechanisms of action, but also on the degree of “surprise” they present to the individual. This hypothesis is based on elements of information theory: that unusual events and experiences carry more information than common events and experiences and that headache attacks are associated with reactions to uncommon or unexpected biopsychosocial exposures.MethodsA secondary analysis of the Headache Prediction Study, this prospective cohort study followed N = 95 individuals with episodic migraine who contributed 4195 days of diary data. Information was collected on daily levels of several common headache triggers: number of caffeinated beverages, number of alcoholic beverages, stress (Daily Stress Inventory), and mood disturbance (Profile of Mood States). The probability of observing variations in each trigger was used to estimate the “surprisal” of experiencing each trigger, and this information, measured in bits, was used to predict headache attacks.ResultsParticipants experienced a headache attack on 1613 of 4195 days (38.5%). Each of the triggers was modestly related to the probability of experiencing a future headache in a complex manner that involved interactions between current headache status, current levels of the trigger, and lagged (previous) levels of the trigger. However, when expressed as a surprisal, the associations were simplified and strengthened. For example, each of the individual trigger surprisals exhibited a meaningful association with the development of a future headache attack (expressed as a 1 SD change in surprisal), with odds ratios ranging from a low of 1.11 (95%CI: 1.00 to 1.24) for alcohol to a high of 1.30 (95%CI: 1.14 to 1.46) for stress. The individual surprisals could be summed for total trigger surprise and exhibited a reliable association with new onset headache, OR 1.35 (95%CI: 1.17 to 1.49). This score exhibited superior discrimination between headache and non‐headache days from all of the individual triggers (ignoring base rate, AUC: 0.61; AUC: 0.71 with base rate).ConclusionsDiverse headache triggers can be uniformly described using their probability distributions. Rare values of headache triggers, or surprising values, were found to have consistent associations with headache activity across a variety of triggers. This finding, if validated in external data using other triggers, has potential to be used to conceptualize the influence of a wide range of headache triggers.
The Morisco question: Methodology and historiography
Authors: Kimmel Seth 
Published: March 2019

AbstractThe first half of this essay offers an introduction to the history of the Moriscos, from their forced conversion from Islam to Christianity in the early 16th century to their expulsion from the Crowns of Castile and Aragon in the early 17th century. The Morisco period begins a decade after the fall of Nasrid Granada in 1492, which brought the centuries‐long history of al‐Andalus to a close, but which did not, however, mark the definitive end to Iberian Islam. Although some Moriscos came to embrace Christianity, a significant portion of the Morisco community found ways privately to maintain aspects of their Muslim identity even while publicly participating in the life of the Church. This was a state of affairs that aroused the interest of the Spanish Inquisition, as well as a host of other civil and ecclesiastical authorities. The second half of this essay focuses on recent scholarship that draws connections between this community of peninsular New Christians and broader debates in both the early and late modern periods about interreligious relations, religion and governance, and the mass movement of peoples across political borders.
Involving libraries in improving health literacy to achieve Sustainable Development Goal‐3 in developing economies: a literature review
Authors: Popoola Biliamin O. 
Published: March 2019

AbstractBackgroundThe Goal 3 (SDG‐3) of the United Nations’ Sustainable Development Goals (SDG) incorporates 13 targets that cut across pressing health concerns globally. Health literacy has however been linked to achieving good health in the society, and its improvement in developing economies could aid the achievement of SDG‐3.ObjectiveThe review focused on identifying actions that can be implemented by libraries to enhance health literacy and access to information among health care practitioners and consumers to support the achievement of SDG‐3 in developing countries, especially Nigeria.MethodA literature search was conducted on reputable academic databases, namely sciencedirect, doaj, google scholar, pubmed and jstor. Similar keyword combinations were used to obtain articles, with filters set to search the keywords in article titles or abstract. Relevant criteria were used to screen the literature.ResultsResults from the literature searching were grouped under six themes that emerged from the literature. The value of libraries in health care was discussed, and suggestions were made for implementation in libraries.ConclusionIt was concluded that libraries in developing economies have to take actions to improve users’ health literacy in order to become prominent stakeholders in the process of achieving SDG‐3.
Regulatory T‐cells promote pulmonary repair by modulating T helper cell immune responses in lipopolysaccharide‐induced acute respiratory distress syndrome
Authors: Tan Wen , Zhang Chaoji , Liu Jianzhou , Miao Qi 
Published: March 2019

SummaryAcute respiratory distress syndrome (ARDS) induces a strong local infiltration of regulatory T‐cells (Tregs) in the lungs. However, at present, there remains a lack of adequate evidence showing the direct effect of Tregs on pulmonary repair and the related mechanisms ofARDS. Therefore, in this project, we studied the impact of Tregs on lipopolysaccharide (LPS)‐inducedARDSand pulmonary inflammation. Surprisingly, we found that depletion of Tregs by injection ofPC61 anti‐CD25 antibody not only interfered with the inflammation resolution, such as inhibited total cell infiltration into the alveolar space, downregulated neutrophils, upregulated macrophages, but also impaired pulmonary epithelium and endothelial cell proliferation. Consistent with the attenuation of pulmonary repair, we found that the Th1 and Th17 immune responses were also impaired in Treg‐depleted mice, suggesting that the presence of Tregs is vital for tissue repair, as Tregs modulate and promote the Th immune response inLPS‐induced pulmonary inflammation.
Nonlinear exchange‐rate pass‐through in emerging markets
Authors: Caselli Francesca G. , Roitman Agustin 
Published: March 2019

AbstractThis paper documents nonlinearities and asymmetries in the transmission of exchange rate fluctuations to prices in a panel of 27 emerging markets for the period 1990–2013. Using local projection techniques, we find evidence of asymmetry in the extent of exchange‐rate pass‐through during episodes of appreciation relative to episodes of depreciation. We then test for the presence of a threshold that can lead to nonlinearities when the exchange rate experiences a large depreciation. The findings suggest that the pass‐through becomes nonlinear when the exchange rate depreciates by more than 24%. We also find that, in line with the literature, the adoption of inflation targeting reduces the degree of exchange‐rate pass‐through. These results are robust to various econometric specifications that account for the presence of outliers and potential endogeneity concerns.
Commentary: Paediatric post‐traumatic stress disorder from a neurodevelopmental network perspective: reflections on Weems et al. (2019)
Authors: Herringa Ryan 
Published: March 2019

Paediatric post‐traumatic stress disorder (PTSD) is an incredibly heterogeneous and syndromic disorder that likely has a myriad of underlying neurobiological mechanisms at play. The disorder is even more complicated in youth, given that the expression of illness interacts with ongoing developmental processes. In their review in this issue, Weems and colleagues call for broader network‐based approaches for studying the development and expression of PTSD in youth. In this commentary, I highlight some of the important knowledge gaps raised by Weems et al. and propose ways in which future studies may leverage network‐based approaches for eventual translation into clinical care. Key concepts include the use of network‐based approaches for understanding the emergence and maintenance of PTSD symptom architecture over development, identification of resilient and vulnerable patterns of symptom and brain network architecture following trauma, and consideration of how divergence between biological (e.g. brain) and chronological may inform our understanding of resilient and vulnerable patterns over development. Importantly, advancing and translating this work to clinical care will require larger, prospective studies assessing youth as early in development as possible, and integrating information across multiple research groups and sites.