bluuebunny/crossref_metadata_2025_split huggingface dataset:
Antibodies against the erythroferrone N-terminal domain prevent hepcidin suppression and ameliorate murine thalassemia
Authors: Arezes João , Foy Niall , McHugh Kirsty , Quinkert Doris , Benard Susan , Sawant Anagha , Frost Joe N. , Armitage Andrew E. , Pasricha Sant-Rayn , Lim Pei Jin , Tam May S. , Lavallie Edward , Pittman Debra D. , Cunningham Orla , Lambert Matthew , Murphy John E. , Draper Simon J. , Jasuja Reema , Drakesmith Hal 
Published: January 2020

AbstractErythroferrone (ERFE) is produced by erythroblasts in response to erythropoietin (EPO) and acts in the liver to prevent hepcidin stimulation by BMP6. Hepcidin suppression allows for the mobilization of iron to the bone marrow for the production of red blood cells. Aberrantly high circulating ERFE in conditions of stress erythropoiesis, such as in patients with β-thalassemia, promotes the tissue iron accumulation that substantially contributes to morbidity in these patients. Here we developed antibodies against ERFE to prevent hepcidin suppression and to correct the iron loading phenotype in a mouse model of β-thalassemia [Hbb(th3/+) mice] and used these antibodies as tools to further characterize ERFE’s mechanism of action. We show that ERFE binds to BMP6 with nanomolar affinity and binds BMP2 and BMP4 with somewhat weaker affinities. We found that BMP6 binds the N-terminal domain of ERFE, and a polypeptide derived from the N terminus of ERFE was sufficient to cause hepcidin suppression in Huh7 hepatoma cells and in wild-type mice. Anti-ERFE antibodies targeting the N-terminal domain prevented hepcidin suppression in ERFE-treated Huh7 cells and in EPO-treated mice. Finally, we observed a decrease in splenomegaly and serum and liver iron in anti–ERFE-treated Hbb(th3/+) mice, accompanied by an increase in red blood cells and hemoglobin and a decrease in reticulocyte counts. In summary, we show that ERFE binds BMP6 directly and with high affinity, and that antibodies targeting the N-terminal domain of ERFE that prevent ERFE–BMP6 interactions constitute a potential therapeutic tool for iron loading anemias.
Tissue-specific gene expression and protein abundance patterns are associated with fractionation bias in maize
Authors: Walsh Jesse R. , Woodhouse Margaret R. , Andorf Carson M. , Sen Taner Z. 
Published: January 2020

AbstractBackgroundMaize experienced a whole-genome duplication event approximately 5 to 12 million years ago. Because this event occurred after speciation from sorghum, the pre-duplication subgenomes can be partially reconstructed by mapping syntenic regions to the sorghum chromosomes. During evolution, maize has had uneven gene loss between each ancient subgenome. Fractionation and divergence between these genomes continue today, constantly changing genetic make-up and phenotypes and influencing agronomic traits.ResultsHere we regenerate the subgenome reconstructions for the most recent maize reference genome assembly. Based on both expression and abundance data for homeologous gene pairs across multiple tissues, we observed functional divergence of genes across subgenomes. Although the genes in the larger maize subgenome are often expressing more highly than their homeologs in the smaller subgenome, we observed cases where homeolog expression dominance switches in different tissues. We demonstrate for the first time that protein abundances are higher in the larger subgenome, but they also show tissue-specific dominance, a pattern similar to RNA expression dominance. We also find that pollen expression is uniquely decoupled from protein abundance.ConclusionOur study shows that the larger subgenome has a greater range of functional assignments and that there is a relative lack of overlap between the subgenomes in terms of gene functions than would be suggested by similar patterns of gene expression and protein abundance. Our study also revealed that some reactions are catalyzed uniquely by the larger and smaller subgenomes. The tissue-specific, nonequivalent expression-level dominance pattern observed here implies a change in regulatory control which favors differentiated selective pressure on the retained duplicates leading to eventual change in gene functions.
Best practices for collecting repeated measures data using text messages
Authors: Shimoni Noa’a , Nippita Siripanth , Castaño Paula M. 
Published: January 2020

Abstract
Background
Researchers and clinicians use text messages to collect data with the advantage of real time capture when compared with standard data collection methods. This article reviews project setup and management for successfully collecting patient-reported data through text messages.

Methods
We review our experience enrolling over 2600 participants in six clinical trials that used text messages to relay information or collect data. We also reviewed the literature on text messages used for repeated data collection. We classify recommendations according to common themes: the text message, the data submitted and the phone used.

Results
We present lessons learned and discuss how to create text message content, select a data collection platform with practical features, manage the data thoughtfully and consistently, and work with patients, participants and their phones to protect privacy. Researchers and clinicians should design text messages to include short, simple prompts and answer choices. They should decide whether and when to send reminders if participants do not respond and set parameters regarding when and how often to contact patients for missing data. Data collection platforms send, receive, and store messages. They can validate responses and send error messages. Researchers should develop a protocol to append and correct data in order to improve consistency with data handling. At the time of enrollment, researchers should ensure that participants can receive and respond to messages. Researchers should address privacy concerns and plan for service interruptions by obtaining alternate participant contact information and providing participants with a backup data collection method.

Conclusions
Careful planning and execution can reward clinicians and investigators with complete, timely and accurate data sets.
Clinical characteristics and prognostic analysis of anti-gamma-aminobutyric acid-B (GABA-B) receptor encephalitis in Northeast China
Authors: Zhang Xinyue , Lang Yue , Sun Lichao , Zhang Weiguanliu , Lin Weihong , Cui Li 
Published: January 2020

AbstractObjectiveTo investigate the clinical characteristics and prognosis of anti-gamma-aminobutyric acid-B (GABA-B) receptor encephalitis.MethodsThis retrospective study enrolled nineteen patients with anti-GABA-B receptor encephalitis. Clinical manifestations, radiological and electroencephalogram features, treatment and outcomes were collected and analyzed. The neurological function was evaluated according to the modified Rankin Scale (mRS).ResultsThere were eleven patients in the favorable-prognosis group (mRS ≤ 2) and eight patients in the poor-prognosis group (mRS > 2). In the favorable-prognosis group, clinical symptoms included memory deterioration (n = 10; 90.9%), epileptic seizures (n = 9; 81.8%), psychiatric disorders (n = 9; 81.8%), and conscious disturbance (n = 5; 45.5%); magnetic resonance imaging (MRI) indicated an involvement of the limbic system in three (27.3%) cases in this group. Lung cancer was detected in one patient (9.1%). After an average follow-up period of 11.7 months, four (36.4%) patients were cured, and seven (63.6%) patients showed significant improvements. In the poor-prognosis group, all patients presented with memory deterioration, epileptic seizures, psychiatric disorders, and conscious disturbance; five (62.5%) patients had convulsive status epilepticus, and five (62.5%) patients developed respiratory failure; MRI indicated an involvement of the limbic system in seven (87.5%) cases. Malignant tumors were detected in five (62.5%) patients. After an average follow-up period of 14.8 months, seven (87.5%) patients died and one (12.5%) patient remained dependent in daily life.ConclusionsThe clinical manifestations of anti-GABA-B receptor encephalitis include epileptic seizures, cognitive impairment and psychiatric disorders. Patients with convulsive status epilepticus or respiratory failure have poor outcomes. In anti-GABA-B receptor encephalitis, limbic system involvement is associated with a poor prognosis in and radiological examinations can reflect disease progression. Early diagnosis and appropriate treatment should be highlighted.
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
Authors: Chen Xueping , Liu Jiao , Wei Qian-Qian , Ou Ru Wei , Cao Bei , Yuan Xiaoqin , Hou Yanbing , Zhang Lingyu , Shang Huifang 
Published: January 2020

Abstract
Background
Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population.

Methods
Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed according to their predicted pathogenicity and their relevance to the clinical phenotypes. The segregation in the family members was validated by Sanger sequencing.

Results
A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. In 6 of these patients, the mutations were homozygous, and the other 3 patients carried two compound heterozygous mutations. Six mutations were novel; 2 were classified as pathogenic, 1 were considered as likely pathogenic, and the other 3 were variants of unknown significance. Additionally, 1 missense heterozygous variant we found was also carried by amyotrophic lateral sclerosis (ALS) patient. Clinically and electrophysiologically, some of our ARHSP patients partially shared various features of autosomal-recessive juvenile amyotrophic lateral sclerosis (ARJALS), including combination of both UMN and LMN degeneration.

Conclusions
The results contribute to extending of the SPG11 gene mutation spectrum and emphasizing a putative link between ARHSP and ARJALS.
The postpartum depression literacy scale (PoDLiS): development and psychometric properties
Authors: Mirsalimi Fatemeh , Ghofranipour Fazlollah , Noroozi Azita , Montazeri Ali 
Published: January 2020

Abstract
Background
Maternal mental health including postpartum mental health is essential to women’s health. This study aimed to develop a specific measure for assessing postpartum depression literacy and consequently evaluate its psychometric properties among a sample of perinatal women.

Methods
This investigation was composed of two studies: developing the measure, and evaluating of psychometric properties of the developed questionnaire. In development stage an item pool was created. Then, based on definition of mental health literacy and preliminary screening, an initial questionnaire was developed. The content and face validity of the questionnaire were then assessed. In the second study psychometric properties of the questionnaire were examined. Overall 692 perinatal women with the mean age of 27.63 years (ranging from 17 to 43) participated in the study.

Results
In all an item pool of 86 items was generated. Of these, 31 items were removed and the remaining 55 items subjected to content and face validity and further 16 items removed. In the second stage a 39-item questionnaire namely the Postpartum Depression Literacy Scale (PoDLis) was evaluated. In principal component factor analysis, 31 items were loaded indicating a 7-factor solution for the questionnaire. The factors designated the following constructs: ability to recognize postpartum depression, knowledge of risk factors and causes, knowledge and belief of self-care activities, knowledge about professional help available, beliefs about professional help available, attitudes which facilitate recognition of postpartum depression and appropriate help-seeking, and knowledge of how to seek information related to postpartum depression. Finally performing the confirmatory factor analysis, the Postpartum Depression Literacy Scale with 31 items was supported for the structures suggested by theoretical model and findings from the exploratory factor analysis. The Cronbach’s alpha coefficient for the scale was .78 and it ranged from .70 to .83 for each factor lending support to the internal consistency of the questionnaire.

Conclusion
The findings suggest that the Postpartum Depression Literacy Scale (PoDLiS) is a reliable and valid instrument for measuring the postpartum depression literacy and now can be used in studies of mental health literacy in women.
Decision coaching using a patient decision aid for youth and parents considering insulin delivery methods for type 1 diabetes: a pre/post study
Authors: Lawson Margaret L. , Shephard Allyson L. , Feenstra Bryan , Boland Laura , Sourial Nadia , Stacey Dawn 
Published: January 2020

Abstract
Background
Choice of insulin delivery for type 1 diabetes can be difficult for many parents and children. We evaluated decision coaching using a patient decision aid for helping youth with type 1 diabetes and parents decide about insulin delivery method.

Methods
A pre/post design. Youth and parent(s) attending a pediatric diabetes clinic in a tertiary care centre were referred to the intervention by their pediatric endocrinologist or diabetes physician between September 2013 and May 2015. A decision coach guided youth and their parents in completing a patient decision aid that was pre-populated with evidence on insulin delivery options. Primary outcomes were youth and parent scores on the low literary version of the validated Decisional Conflict Scale (DCS).

Results
Forty-five youth (mean age = 12.5 ± 2.9 years) and 66 parents (45.8 ± 5.6 years) participated. From pre- to post-intervention, youth and parent decisional conflict decreased significantly (youth mean DCS score was 32.0 vs 6.6, p < 0.0001; parent 37.6 vs 3.5, p < 0.0001). Youth’s and parents’ mean decisional conflict scores were also significantly improved for DCS subscales (informed, values clarity, support, and certainty). 92% of youth and 94% of parents were satisfied with the decision coaching and patient decision aid. Coaching sessions averaged 55 min. Parents (90%) reported that the session was the right length of time; some youth (16%) reported that it was too long.

Conclusion
Decision coaching with a patient decision aid reduced decisional conflict for youth and parents facing a decision about insulin delivery method.
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)
Authors: Rosa Joana , Gaspar-Silva Patrícia , Pacheco Paula , Silva Conceição , Branco Cláudia C. , Vieira Barbara S. , Carreiro Alexandra , Gonçalves Juan , Mota-Vieira Luisa 
Published: January 2020

Abstract
Background
Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations.

Methods
We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their genotype.

Results
We identified 14 CF patients within a 23-year period, corresponding to a cumulative incidence of 1:3012 births, being three of them born from consanguineous unions. Genetic analysis revealed three CFTR genotypes: p.[Ser4Ter];[Gln1100Pro] was present in one patient with a less severe phenotype (1/14); c.[120del23];p.[Phe508del], a very rare one (2/14); and p.[Phe508del];[Phe508del] in the remaining patients (11/14). Clinically, respiratory infections (8/14) and growth failure (6/14) were the most common initial manifestations. All patients presented pancreatic dysfunction, with 21.4 and 100% of them showing endocrine and exocrine insufficiency, respectively. As expected, patients with severe phenotype were homozygous for p.Phe508del and had the lowest value of body mass index.

Conclusions
The present study demonstrated that São Miguel Island has an increased incidence of CF when compared to recent Portuguese data (1:7500 live births). It also allowed a comprehensive overview of CF in São Miguel, improving medical practice along with genetic counselling and creating opportunities for genotype-targeted therapies.
Species traits, patch turnover and successional dynamics: when does intermediate disturbance favour metapopulation occupancy?
Authors: Mestre Frederico , Pita Ricardo , Mira António , Beja Pedro 
Published: January 2020

AbstractBackgroundIn fragmented landscapes, natural and anthropogenic disturbances coupled with successional processes result in the destruction and creation of habitat patches. Disturbances are expected to reduce metapopulation occupancy for species associated with stable habitats, but they may benefit species adapted to transitory habitats by maintaining a dynamic mosaic of successional stages. However, while early-successional species may be favoured by very frequent disturbances resetting successional dynamics, metapopulation occupancy may be highest at intermediate disturbance levels for species with mid-successional habitat preferences, though this may be conditional on species traits and patch network characteristics. Here we test this ‘intermediate disturbance hypothesis’ applied to metapopulations (MIDH), using stochastic patch occupancy simulation modelling to assess when does intermediate disturbance favour metapopulation occupancy. We focused on 54 virtual species varying in their habitat preferences, dispersal abilities and local extinction and colonization rates. Long-term metapopulation dynamics was estimated in landscapes with different habitat amounts and patch turnover rates (i.e. disturbance frequency).ResultsEquilibrium metapopulation occupancy by late-successional species strongly declined with increasing disturbance frequency, while occupancy by early-successional species increased with disturbance frequency at low disturbance levels and tended to level-off thereafter. Occupancy by mid-successional species tended to increase along with disturbance frequency at low disturbance levels and declining thereafter. Irrespective of habitat preferences, occupancy increased with the amount of habitat, and with species dispersal ability and colonisation efficiency.ConclusionsOur study suggests that MIDH is verified only for species associated with mid-successional habitats. These species may be particularly sensitive to land use changes causing either increases or decreases in disturbance frequency. This may be the case, for instance, of species associated with traditional agricultural and pastoral mosaic landscapes, where many species disappear either through intensification or abandonment processes that change disturbance frequency.
A comparison of undergraduate outcomes for students from gateway courses and standard entry medicine courses
Authors: Curtis Sally , Smith Daniel 
Published: January 2020

AbstractBackgroundGateway courses are increasingly popular widening participation routes into medicine. These six year courses provide a more accessible entry route into medical school and aim to support under-represented students’ progress and graduation as doctors. There is little evidence on the performance of gateway students and this study compares attainment and aptitude on entry, and outcomes at graduation of students on the UK’s three longest running gateway courses with students studying on a standard entry medical degree (SEMED) course at the same institutions.MethodsData were obtained from the UK Medical Education Database for students starting between 2007 and 2012 at three UK institutions. These data included A-levels and Universities Clinical Aptitude Test scores on entry to medical school and the Educational Performance Measure (EPM) decile, Situational Judgement Test (SJT) and Prescribing Safety Assessment (PSA) scores as outcomes measures. Multiple regression models were used to test for difference in outcomes between the two types of course, controlling for attainment and aptitude on entry.ResultsFour thounsand three hundred forty students were included in the analysis, 560 on gateway courses and 3785 on SEMED courses. Students on SEMED courses had higher attainment (Cohen’sd = 1.338) and aptitude (Cohen’sd = 1.078) on entry. On exit SEMED students had higher EPM scores (Cohen’sd = 0.616) and PSA scores (Cohen’sd = 0.653). When accounting for attainment and aptitude on entry course type is still a significant predictor of EPM and PSA, but the proportion of the variation in outcome explained by course type drops from 6.4 to 1.6% for EPM Decile and from 5.3% to less than 1% for the PSA score.There is a smaller significant difference in SJT scores, with SEMED having higher scores (Cohen’sd = 0.114). However, when measures of performance on entry are accounted for, course type is no longer a significant predictor of SJT scores.ConclusionsThis study shows the differences of the available measures between gateway students and SEMED students on entry to their medical degrees are greater than the differences on exit. This provides modest evidence that gateway courses allow students from under-represented groups to achieve greater academic potential.
Role of microRNAs in antiviral responses to dengue infection
Authors: Wong Rui Rui , Abd-Aziz Noraini , Affendi Sarah , Poh Chit Laa 
Published: January 2020

AbstractDengue virus (DENV) is the etiological agent of dengue fever. Severe dengue could be fatal and there is currently no effective antiviral agent or vaccine. The only licensed vaccine, Dengvaxia, has low efficacy against serotypes 1 and 2. Cellular miRNAs are post-transcriptional regulators that could play a role in direct regulation of viral genes. Host miRNA expressions could either promote or repress viral replications. Induction of some cellular miRNAs could help the virus to evade the host immune response by suppressing the IFN-α/β signaling pathway while others could upregulate IFN-α/β production and inhibit the viral infection. Understanding miRNA expressions and functions during dengue infections would provide insights into the development of miRNA-based therapeutics which could be strategized to act either as miRNA antagonists or miRNA mimics. The known mechanisms of how miRNAs impact DENV replication are diverse. They could suppress DENV multiplication by directly binding to the viral genome, resulting in translational repression. Other miRNA actions include modulation of host factors. In addition, miRNAs that could modulate immunopathogenesis are discussed. Major hurdles lie in the development of chemical modifications and delivery systems for in vivo delivery. Nevertheless, advancement in miRNA formulations and delivery systems hold great promise for the therapeutic potential of miRNA-based therapy, as supported by Miravirsen for treatment of Hepatitis C infection which has successfully completed phase II clinical trial.