bluuebunny/crossref_metadata_2025_split huggingface dataset:
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort
Authors: Sun Bijun , Chen Qiuyu , Wang Ying , Liu Danru , Hou Jia , Wang Wenjie , Ying Wenjing , Hui Xiaoying , Zhou Qinhua , Sun Jinqiao , Wang Xiaochuan 
Published: May 2020

Abstract
Background
DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There may be a potential association between genotypes and phenotypes. We investigated the characteristics of LIG4 syndrome in a Chinese cohort.

Results
All seven patients had growth restriction. Most patients (6/7) had significant microcephaly (< − 3 SD). Recurrent bacterial infections of the lungs and intestines were the most common symptoms. One patient had myelodysplastic syndromes. One patient presented with an inflammatory bowel disease (IBD)-like phenotype. Patients presented with combined immunodeficiency. The proportions of naïve CD4+ and naïve CD8+ T cells decreased notably in five patients. All patients harbored compound heterozygous mutations in the LIG4 gene, which consisted of a missense mutation (c.833G > T, p.R278L) and a deletion shift mutation, primarily c.1271_1275delAAAGA (p.K424Rfs*20). Two other deletion mutations, c.1144_1145delCT and c.1277_1278delAA, were novel. Patients with p.K424Rfs*20/p.R278 may have milder dysmorphism but more significant IgA/IgM deficiency compared to the frequently reported genotype p.R814X/p.K424Rfs*20. One patient underwent umbilical cord blood stem cell transplantation (UCBSCT) but died.

Conclusions
The present study reported the clinical and molecular characteristics of a Chinese cohort with LIG4 syndrome, and the results further expand the phenotypic and genotypic spectrum and our understanding of genotype-to-phenotype correlations in LIG4 syndrome.
Implementation outcomes of cognitive behavioural therapy delivered by non-specialists for common mental disorders and substance-use disorders in low- and middle-income countries: a systematic review
Authors: Verhey Ibone J. , Ryan Grace K. , Scherer Nathaniel , Magidson Jessica F. 
Published: May 2020

AbstractDue to severe shortages of specialist mental health personnel in low- and middle-income countries (LMICs), psychological therapies are increasingly being delivered by non-specialist health workers (NSHWs). Previous reviews have investigated the effectiveness of NSHW-delivered psychological therapies, including cognitive behavioural therapy (CBT), in LMIC settings. This systematic review aims to synthesise findings on the implementation outcomes of NSHW-delivered CBT interventions addressing common mental disorders and substance-use disorders in LMICs. Four databases were searched, yielding 3211 records, 18 of which met all inclusion criteria. We extracted and synthesised qualitative and quantitative data across eight implementation outcomes: acceptability, adoption, appropriateness, feasibility, fidelity, implementation cost, penetration and sustainability. Findings suggest that delivery of CBT-based interventions by NSHWs can be acceptable, appropriate and feasible in LMIC settings. However, more research is needed to better evaluate these and other under-reported implementation outcomes.
Differentiation and localization of interneurons in the developing spinal cord depends on DOT1L expression
Authors: Gray de Cristoforis Angelica , Ferrari Francesco , Clotman Frédéric , Vogel Tanja 
Published: May 2020

AbstractGenetic and epigenetic factors contribute to the development of the spinal cord. Failure in correct exertion of the developmental programs, including neurulation, neural tube closure and neurogenesis of the diverse spinal cord neuronal subtypes results in defects of variable severity. We here report on the histone methyltransferase Disruptor of Telomeric 1 Like (DOT1L), which mediates histone H3 lysine 79 (H3K79) methylation. Conditional inactivation of DOT1L using Wnt1-cre as driver (Dot1l-cKO) showed that DOT1L expression is essential for spinal cord neurogenesis and localization of diverse neuronal subtypes, similar to its function in the development of the cerebral cortex and cerebellum. Transcriptome analysis revealed that DOT1L deficiency favored differentiation over progenitor proliferation. Dot1l-cKO mainly decreased the numbers of dI1 interneurons expressing Lhx2. In contrast, Lhx9 expressing dI1 interneurons did not change in numbers but localized differently upon Dot1l-cKO. Similarly, loss of DOT1L affected localization but not generation of dI2, dI3, dI5, V0 and V1 interneurons. The resulting derailed interneuron patterns might be responsible for increased cell death, occurrence of which was restricted to the late developmental stage E18.5. Together our data indicate that DOT1L is essential for subtype-specific neurogenesis, migration and localization of dorsal and ventral interneurons in the developing spinal cord, in part by regulating transcriptional activation of Lhx2.
Protocol for the process evaluation of a cluster randomised controlled trial to determine the effectiveness and cost-effectiveness of independent pharmacist prescribing in care home: the CHIPPS study
Authors:   On behalf of the CHIPPS Team, Bond Christine M. , Holland Richard , Alldred David P. , Arthur Antony , Barton Garry , Birt Linda , Blyth Annie , Desborough James , Ford Joanna , Handford Christine , Hill Helen , Hughes Carmel M. , Maskrey Vivienne , Massey Kate , Myint Phyo K. , Norris Nigel , Poland Fiona M. , Shepstone Lee , Zermansky Arnold , Wright David 
Published: May 2020

Abstract
Background
Prescribing, monitoring and administration of medicines in care homes could be improved. A cluster randomised controlled trial (RCT) is ongoing to evaluate the effectiveness of an independent prescribing pharmacist assuming responsibility for medicines management in care homes compared to usual care.

Aims and Objectives
To conduct a mixed-methods process evaluation of the RCT, in line with Medical Research Council (MRC) process evaluation guidance, to inform interpretation of main trial findings and if the service is found to be effective and efficient, to inform subsequent implementation.

Objectives

To describe the intervention as delivered in terms of quality, quantity, adaptations and variations across triads and time.

To explore the effects of individual intervention components on the primary outcomes.

To investigate the mechanisms of impact.

To describe the perceived effectiveness of relevant intervention components [including pharmacist independent prescriber (PIP) training and care home staff training] from participant [general practitioner (GP), care home, PIP and resident/relative] perspectives.

To describe the characteristics of GP, care home, PIP and resident participants to assess reach.

To estimate the extent to which intervention delivery is normalised among the intervention healthcare professionals and related practice staff.

Methods
A mix of quantitative (surveys, record reviews) and qualitative (interviews) approaches will be used to collect data on the extent of the delivery of detailed tasks required to implement the new service, to collect data to confirm the mechanism of impact as hypothesised in the logic model, to collect explanatory process and final outcome data, and data on contextual factors which could have facilitated or hindered effective and efficient delivery of the service.

Discussion
Recruitment is ongoing and the trial should complete in early 2020. The systematic and comprehensive approach that is being adopted will ensure data is captured on all aspects of the study, and allow a full understanding of the implementation of the service and the RCT findings. With so many interrelated factors involved it is important that a process evaluation is undertaken to enable us to identify which elements of the service were deemed to be effective, explain any differences seen, and identify enablers, barriers and future adaptions.

Trial registration
ISRCTN17847169.
Date registered: 15 December 2017.
Ancestry-specific predisposing germline variants in cancer
Authors:   TCGA Analysis Network, Oak Ninad , Cherniack Andrew D. , Mashl R. Jay , Hirsch Fred R. , Ding Li , Beroukhim Rameen , Gümüş Zeynep H. , Plon Sharon E. , Huang Kuan-lin 
Published: May 2020

Abstract
Background
Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of germline genomes are required to inform cancer genetic risk and prognosis of diverse populations.

Methods
We conducted analyses using germline and somatic sequencing data generated by The Cancer Genome Atlas. Collapsing pathogenic and likely pathogenic variants to cancer predisposition genes (CPG), we analyzed the association between CPGs and cancer types within ancestral groups. We also identified the predisposition-associated two-hit events and gene expression effects in tumors.

Results
Genetic ancestry analysis classified the cohort of 9899 cancer cases into individuals of primarily European (N = 8184, 82.7%), African (N = 966, 9.8%), East Asian (N = 649, 6.6%), South Asian (N = 48, 0.5%), Native/Latin American (N = 41, 0.4%), and admixed (N = 11, 0.1%) ancestries. In the African ancestry, we discovered a potentially novel association of BRCA2 in lung squamous cell carcinoma (OR = 41.4 [95% CI, 6.1–275.6]; FDR = 0.002) previously identified in Europeans, along with a known association of BRCA2 in ovarian serous cystadenocarcinoma (OR = 8.5 [95% CI, 1.5–47.4]; FDR = 0.045). In the East Asian ancestry, we discovered one previously known association of BRIP1 in stomach adenocarcinoma (OR = 12.8 [95% CI, 1.8–90.8]; FDR = 0.038). Rare variant burden analysis further identified 7 suggestive associations in African ancestry individuals previously described in European ancestry, including SDHB in pheochromocytoma and paraganglioma, ATM in prostate adenocarcinoma, VHL in kidney renal clear cell carcinoma, FH in kidney renal papillary cell carcinoma, and PTEN in uterine corpus endometrial carcinoma. Most predisposing variants were found exclusively in one ancestry in the TCGA and gnomAD datasets. Loss of heterozygosity was identified for 7 out of the 15 African ancestry carriers of predisposing variants. Further, tumors from the SDHB or BRCA2 carriers showed simultaneous allelic-specific expression and low gene expression of their respective affected genes, and FH splice-site variant carriers showed mis-splicing of FH.

Conclusions
While several CPGs are shared across patients, many pathogenic variants are found to be ancestry-specific and trigger somatic effects. Studies using larger cohorts of diverse ancestries are required to pinpoint ancestry-specific genetic predisposition and inform genetic screening strategies.
Season of birth is associated with increased risk of atopic dermatitis in Japanese infants: a retrospective cohort study
Authors: Kuwabara Yu , Nii Ritsue , Tanaka Keiko , Ishii Eiichi , Nagao Mizuho , Fujisawa Takao 
Published: May 2020

Abstract
Background
Several epidemiological studies have examined the possibility of a relationship between season of birth and atopic dermatitis (AD) and food allergy (FA), yet their results are contradictory. We investigated the association between season of birth and risk of AD and FA in Japanese infants.

Methods
Study subjects were 612 newborn infants born at a single obstetric/pediatric clinic without perinatal diseases. Season of birth was classified as spring (March–May), summer (June–August), autumn (September–November) or winter (December–February). AD was diagnosed according to the United Kingdom Working Party’s criteria. FA was defined as present if there was a history of immediate allergic symptoms within 2 h after ingestion of a food. Specific IgE to the corresponding food was also assessed to support the diagnosis. We assessed the association between season of birth and risk of AD and FA using Cox proportional hazard models.

Results
We identified a total of 365 cases of AD occurring during 3659 person-months of follow-up. Compared with summer birth, autumn, winter, and spring birth were significantly positively associated with the risk of AD: adjusted HRs (95% CIs) were 2.67 (1.96–3.63), 1.42 (1.03–1.95), and 1.43 (1.04–1.98), respectively. We identified a total of 23 cases of physician-diagnosed FA occurring during 6815 person-months of follow-up.

Conclusions
Being born in the summer is associated with a lower risk of AD compared to other seasons of birth. The low incidence of FA in our cohort group made it difficult to establish a valid association between FA and season of birth as the statistical power was low.
The functions of long non-coding RNAs in neural stem cell proliferation and differentiation
Authors: Zhao Yanfang , Liu Hongliang , Zhang Qili , Zhang Yuan 
Published: May 2020

AbstractThe capacities for neural stem cells (NSCs) self-renewal with differentiation are need to be precisely regulated for ensuring brain development and homeostasis. Recently, increasing number of studies have highlighted that long non-coding RNAs (lncRNAs) are associated with NSC fate determination during brain development stages. LncRNAs are a class of non-coding RNAs more than 200 nucleotides without protein-coding potential and function as novel critical regulators in multiple biological processes. However, the correlation between lncRNAs and NSC fate decision still need to be explored in-depth. In this review, we will summarize the roles and molecular mechanisms of lncRNAs focusing on NSCs self-renewal, neurogenesis and gliogenesis over the course of neural development, still more, dysregulation of lncRNAs in all stage of neural development have closely relationship with development disorders or glioma. In brief, lncRNAs may be explored as effective modulators in NSCs related neural development and novel biomarkers for diagnosis and prognosis of neurological disorders in the future.
A survey of Monte Carlo methods for parameter estimation
Authors: Luengo David , Martino Luca , Bugallo Mónica , Elvira Víctor , Särkkä Simo 
Published: May 2020

AbstractStatistical signal processing applications usually require the estimation of some parameters of interest given a set of observed data. These estimates are typically obtained either by solving a multi-variate optimization problem, as in the maximum likelihood (ML) or maximum a posteriori (MAP) estimators, or by performing a multi-dimensional integration, as in the minimum mean squared error (MMSE) estimators. Unfortunately, analytical expressions for these estimators cannot be found in most real-world applications, and the Monte Carlo (MC) methodology is one feasible approach. MC methods proceed by drawing random samples, either from the desired distribution or from a simpler one, and using them to compute consistent estimators. The most important families of MC algorithms are the Markov chain MC (MCMC) and importance sampling (IS). On the one hand, MCMC methods draw samples from a proposal density, building then an ergodic Markov chain whose stationary distribution is the desired distribution by accepting or rejecting those candidate samples as the new state of the chain. On the other hand, IS techniques draw samples from a simple proposal density and then assign them suitable weights that measure their quality in some appropriate way. In this paper, we perform a thorough review of MC methods for the estimation of static parameters in signal processing applications. A historical note on the development of MC schemes is also provided, followed by the basic MC method and a brief description of the rejection sampling (RS) algorithm, as well as three sections describing many of the most relevant MCMC and IS algorithms, and their combined use. Finally, five numerical examples (including the estimation of the parameters of a chaotic system, a localization problem in wireless sensor networks and a spectral analysis application) are provided in order to demonstrate the performance of the described approaches.
Vision-based patient identification recognition based on image content analysis and support vector machine for medical information system
Authors: Lin Guo-Shiang , Chai Sin-Kuo , Li Hsiang-Min , Lin Jen-Yung 
Published: May 2020

AbstractIn this paper, a vision-based patient identification recognition system based on image content analysis and support vector machine is proposed for medical information system, especially in dermatology. This proposed system is composed of three parts: pre-processing, candidate region detection, and digit recognition. To consider the efficiency of the proposed scheme, image normalization is performed. The color information is used to identify camera-captured screen images. In the pre-processing part, the effect of noise in captured screen images is reduced by a bilateral filter. The color and spatial information is used to initially and roughly locate the candidate region. To reduce the skew effect, a skew correction algorithm based on the Hough transform is developed. A template matching algorithm is used to find special symbols for locating the region of interest (ROI). For digit segmentation, digits are segmented in the ROI based on the vertical projection and adaptive thresholding. For the digit recognition, some features are measured from each digit segment and a classifier based on the support vector machine is applied to recognize digits.The experiment’s results show that the proposed system could effectively not only use color information to distinguish the captured screen images from the skin images but also detect the ROIs. After the digit segmentation, the accuracy rates of digit recognition are 98.4% and 94.2% for the proposed system and the Tesseract Optical Character Recognition (OCR) software, respectively. These results demonstrate that the proposed system outperforms the Tesseract OCR software in terms of the accuracy rate of digit recognition.
Niche switching and leapfrog foraging: movement ecology of sympatric petrels during the early breeding season
Authors: Quillfeldt Petra , Weimerskirch Henri , Delord Karine , Cherel Yves 
Published: May 2020

Abstract
Background
The timing of events in the early part of the breeding season is crucially important for successful reproduction. Long-lived animals that migrate large distances independently of each other meet at the breeding sites to re-establish their pair bonds and coordinate their breeding duties with their partners.

Methods
Using miniature light-geolocation and immersion data together with blood stable isotopes, we studied the early breeding season in Thin-billed prions Pachyptila belcheri, Antarctic prions P. desolata and Blue petrels Halobaena caerulea breeding at Kerguelen Islands in the Indian Ocean. These three species exhibit differences in their winter habitat and timing of migration, moult and breeding. We hypothesised that these differences would influence their behaviour during the early breeding season.

Results
In line with our hypothesis, we found clear differences not only in the timing of colony attendance, but also in the time budgets while at sea and in habitat use. Both early breeding Blue petrels and late breeding Antarctic prions spent about 8 h per day in flight and 15 h foraging. In comparison, Thin-billed prions, which breed in mid-summer, spent less time (5 h daily) in flight and more time (18 h daily) foraging, thus maximizing the time spent foraging during the longest daylight days of the year. While the ecological habitat parameters (sea temperature, wind, productivity) of Thin-billed prions and Blue petrels were relatively stable throughout the year, Antarctic prions showed clear niche switching, caused by leapfrogging between the northernmost winter distribution to the southernmost distribution during the early breeding season. Blood stable isotopes confirmed the habitat switch between the inter-breeding and early breeding periods and highlighted trophic segregation with Blue petrels feeding more on fish and Antarctic petrels more on crustaceans during the early breeding period.

Conclusion
We found that the three sympatric petrel species segregated in time and space, both in the winter and the early breeding season. The interplay of timing and distribution meant that the three species show the full range of migratory strategies, from niche-tracking Blue petrels to niche-switching Antarctic prions. The latitudinal distribution resembled the leapfrogging of terrestrial avian migrant species or populations.
Short-term water demand forecasting using hybrid supervised and unsupervised machine learning model
Authors: Bata Mo’tamad , Carriveau Rupp , Ting David S.-K. 
Published: May 2020

AbstractRegression Tree (RT) forecasting models are widely used in short-term demand forecasting. Likewise, Self-Organizing Maps (SOM) models are known for their ability to cluster and organize unlabeled big data. Herein, a combination of these two Machine Learning (ML) techniques is proposed and compared to a standalone RT and a Seasonal Autoregressive Integrated Moving Average (SARIMA) models, in forecasting the short-term water demand of a municipality. The inclusion of the Unsupervised Machine Learning clustering model has resulted in a significant improvement in the performance of the Supervised Machine Learning forecasting model. The results show that using the output of the SOM clustering model as an input for the RT forecasting model can, on average, double the accuracy of water demand forecasting. The Mean Absolute Percentage Error (MAPE) and the Normalized Root Mean Squared Error (NRMSE) were calculated for the proposed models forecasting 1 h, 8 h, 24 h, and 7 days ahead. The results show that the hybrid models outperformed the standalone RT model, and the broadly used SARIMA model. On average, hybrid models achieved double accuracy in all 4 forecast periodicities. The increase in forecasting accuracy afforded by this hybridized modeling approach is encouraging. In our application, it shows promises for more efficient energy and water management at the water utilities.
Evaluating Fidelity of reporting in randomized controlled trials on childhood acute lymphocytic leukemia
Authors: Jellison Samuel , Hoffsommer Nicholas , Hoelscher Alexander , Vassar Matt 
Published: May 2020

Abstract
Background
Randomized controlled trials (RCTs) play an integral role in childhood cancer research. Several efforts to improve the quality of reporting of clinical trials have been published in recent years, including the TIDieR checklist. Many reviews have since used TIDieR to evaluate how well RCTs are being reported, but no such study has yet been done in childhood cancer. The aim of this study is to evaluate adherence of RCTs involving acute lymphocytic leukemia (ALL) to the TIDieR checklist.

Methods
The PubMed database was used to screen for RCTs involving ALL published since 2015. Of 1546 articles identified, 46 met study criteria and were then evaluated against the TIDieR 12-point checklist to measure the degree of adherence.

Results
Of the 46 articles included, 9 (19.6%) met full TIDieR criteria. Seven of the 9 reported non-pharmacological interventions, and the remaining 2 reported pharmacological interventions. The average article properly reported 8.98/12 checklist items. Item 5 (intervention provider) was the most poorly reported item, properly reported in only 34.8% of articles.

Conclusion
We conclude that overall TIDieR adherence is low and needs to be adhered to more fully in order to improve research in ALL as well as in all childhood cancers.