bluuebunny/crossref_metadata_2025_split huggingface dataset:
Risk score to predict event-free survival after hematopoietic cell transplant for sickle cell disease
Authors: Brazauskas Ruta , Scigliuolo Graziana M. , Wang Hai-Lin , Cappelli Barbara , Ruggeri Annalisa , Fitzhugh Courtney D. , Hankins Jane S. , Kanter Julie , Meerpohl Joerg J. , Panepinto Julie A. , Rondelli Damiano , Shenoy Shalini , Walters Mark C. , Wagner John E. , Tisdale John F. , Gluckman Eliane , Eapen Mary 
Published: June 2020

AbstractWe developed a risk score to predict event-free survival (EFS) after allogeneic hematopoietic cell transplantation for sickle cell disease. The study population (n = 1425) was randomly split into training (n = 1070) and validation (n = 355) cohorts. Risk factors were identified and validated via Cox regression models. Two risk factors of 9 evaluated were predictive for EFS: age at transplantation and donor type. On the basis of the training cohort, patients age 12 years or younger with an HLA-matched sibling donor were at the lowest risk with a 3-year EFS of 92% (score, 0). Patients age 13 years or older with an HLA-matched sibling donor or age 12 years or younger with an HLA-matched unrelated donor were at intermediate risk (3-year EFS, 87%; score, 1). All other groups, including patients of any age with a haploidentical relative or HLA-mismatched unrelated donor and patients age 13 years or older with an HLA-matched unrelated donor were high risk (3-year EFS, 57%; score, 2 or 3). These findings were confirmed in the validation cohort. This simple risk score may guide patients with sickle cell disease and hematologists who are considering allogeneic transplantation as a curative treatment relative to other available contemporary treatments.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Authors: Stremenova Spegarova Jarmila , Lawless Dylan , Mohamad Siti Mardhiana Binti , Engelhardt Karin R. , Doody Gina , Shrimpton Jennifer , Rensing-Ehl Anne , Ehl Stephan , Rieux-Laucat Frederic , Cargo Catherine , Griffin Helen , Mikulasova Aneta , Acres Meghan , Morgan Neil V. , Poulter James A. , Sheridan Eamonn G. , Chetcuti Philip , O'Riordan Sean , Anwar Rashida , Carter Clive R. , Przyborski Stefan , Windebank Kevin , Cant Andrew J. , Lako Majlinda , Bacon Chris M. , Savic Sinisa , Hambleton Sophie 
Published: June 2020

AbstractMolecular dissection of inborn errors of immunity can help to elucidate the nonredundant functions of individual genes. We studied 3 children with an immune dysregulation syndrome of susceptibility to infection, lymphadenopathy, hepatosplenomegaly, developmental delay, autoimmunity, and lymphoma of B-cell (n = 2) or T-cell (n = 1) origin. All 3 showed early autologous T-cell reconstitution following allogeneic hematopoietic stem cell transplantation. By whole-exome sequencing, we identified rare homozygous germline missense or nonsense variants in a known epigenetic regulator of gene expression: ten-eleven translocation methylcytosine dioxygenase 2 (TET2). Mutated TET2 protein was absent or enzymatically defective for 5-hydroxymethylating activity, resulting in whole-blood DNA hypermethylation. Circulating T cells showed an abnormal immunophenotype including expanded double-negative, but depleted follicular helper, T-cell compartments and impaired Fas-dependent apoptosis in 2 of 3 patients. Moreover, TET2-deficient B cells showed defective class-switch recombination. The hematopoietic potential of patient-derived induced pluripotent stem cells was skewed toward the myeloid lineage. These are the first reported cases of autosomal-recessive germline TET2 deficiency in humans, causing clinically significant immunodeficiency and an autoimmune lymphoproliferative syndrome with marked predisposition to lymphoma. This disease phenotype demonstrates the broad role of TET2 within the human immune system.
Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain
Authors: Castro Victoria L. , Reyes Joel F. , Reyes-Nava Nayeli G. , Paz David , Quintana Anita M. 
Published: June 2020

AbstractBackgroundPrecise regulation of neural precursor cell (NPC) proliferation and differentiation is essential to ensure proper brain development and function. TheHCFC1gene encodes a transcriptional co-factor that regulates cell proliferation, and previous studies suggest that HCFC1 regulates NPC number and differentiation. However, the molecular mechanism underlying these cellular deficits has not been completely characterized.MethodsHere we created a zebrafish harboring mutations in thehcfc1agene (thehcfc1aco60/+allele), one ortholog ofHCFC1, and utilized immunohistochemistry and RNA-sequencing technology to understand the function ofhcfc1aduring neural development.ResultsThehcfc1aco60/+allele results in an increased number of NPCs and increased expression of neuronal and glial markers. These neural developmental deficits are associated with larval hypomotility and the abnormal expression ofasxl1, a polycomb transcription factor, which we identified as a downstream effector ofhcfc1a. Inhibition ofasxl1activity and/or expression in larvae harboring thehcfc1aco60/+allele completely restored the number of NPCs to normal levels.ConclusionCollectively, our data demonstrate thathcfc1aregulates NPC number, NPC proliferation, motor behavior, and brain development.
Factors affecting the utilization of antenatal care among married women of reproductive age in the rural Thatta, Pakistan: findings from a community-based case-control study
Authors: Aziz Ali Sumera , Aziz Ali Savera , Feroz Anam , Saleem Sarah , Fatmai Zafar , Kadir Muhammad Masood 
Published: June 2020

Abstract
Background
There are differences in antenatal care (ANC) utilization between urban and rural areas of Pakistan. Although multiple factors have been studied affecting the utilization of general health care services, the effect of road network distance particularly on the utilization of ANC has not been assessed. Therefore, this study aimed to determine the association between road network distance from a health care facility and utilization of the ANC among women of reproductive age in Thatta Pakistan.

Methods
A community-based case-control study was conducted in district Thatta, Pakistan. Women who did not utilize ANC services during their last pregnancy were considered as cases, while controls were the women who utilized ANC services during their last pregnancy. Questions related to socio-demographic, access-related factors and utilization of ANC were asked from women. Road network distance was calculated from the women’s home to the health care facility providing ANC services. Logistic regression analysis was performed.

Results
A total of 380 participants were interviewed in this study. Participants’ mean age and parity were 28 years (SD 5.65), and 3.5 (SD 2.6) respectively. The multivariate analysis showed that women living at a shorter distance of less than 5 km were 1.21 times likely to utilize ANC services [Adjusted OR. 1.21; 95% CI (0.49–2.99)]. Moreover, nulliparous women were 4.10 times likely to utilize antenatal care [Adjusted OR. 4.10; 95% CI (1.10–15.26)]. Similarly, women who had knowledge of antennal care were 6.60 times likely to utilize ANC services [Adjusted OR. 6.60; 95% CI (3.33–13.05)]. Women having electricity in their households were 3.15 times likely to utilize the ANC services [Adjusted OR. 3.11 95% CI (1.51–6.41)]. Women, living in well-constructed (Pakka) houses were 2.58 times likely to utilize the ANC services [Adjusted O.R: 2.58; 95% CI (1.15–5.82)].

Conclusion
Road network distance has no measurable impact on ANC utilization among married women in Thatta district, Pakistan. Nulliparous women having knowledge of ANC living in well-constructed houses equipped with electricity were found to be utilizers of ANC services. It is recommended that awareness and health education sessions should be arranged for pregnant women in rural Pakistan.
Weighing up the risks and benefits of community gambling venues as recreational spaces for people with lifelong disability
Authors: Pitt Hannah , Thomas Samantha L. , Watson Joanne , Shuttleworth Russell , Murfitt Kevin , Balandin Susan 
Published: June 2020

Abstract
Background
Community gambling venues (pubs and clubs) are commonly associated with leisure and recreational options in Australian communities. While these venues offer a range of activities and facilities, including social opportunities, sporting facilities, live entertainment, they also contain gambling products that are known to cause significant harm to individuals, their families and communities. Although researchers have explored how adults and children engage with these venues, there is limited understanding about the potential risks and benefits of these venues for people with lifelong disability.

Methods
Semi structured interviews were conducted with nineteen people aged 20–70 years with lifelong disability (includes in this context intellectual disability, autism spectrum disorder, ADHD, and learning disability), predominately intellectual disability. The interviews occurred in a large Australian city and explored interviewees’ experiences and attitudes towards pubs and clubs. Using a range of visual prompts (if needed), participants were asked to describe their engagement in different activities offered within the venue. Interviews were audio-recorded and transcribed, with a thematic analysis used to identify themes across the group.

Results
Most participants attended venues with family, friends, and supporters, with a few attending on their own. Participants described socialising in the venue, going for reduced price meals, and attended for a range of activities including recreational activities, live entertainment and sport. Some participants also valued being a member of venues, and the interactions with staff members. While participants were cautious about the consumption of alcohol, most had gambled, particularly on electronic gambling machines (EGMs, pokies, or slots). Some participants stated that they had experienced problems with gambling.

Conclusions
While many people with lifelong disability have positive experiences in pubs and clubs, some are vulnerable to the harms associated with risky products such as gambling within the venue. While it is important to acknowledge the positives associated with recreational facilities and encourage engagement in leisure activities for people with lifelong disability, further consideration is needed to ensure people are informed and protected from the harms associated with gambling and other products that are provided within these spaces.
Associations between individual perceptions of PM2.5 pollution and pulmonary function in Chinese middle-aged and elderly residents
Authors: Chen Qi , Zhang Jiayao , Xu Yan , Sun Hong , Ding Zhen 
Published: June 2020

Abstract
Background
PM2.5 pollution has become a major public health concern in urban China. Understanding the residents’ individual perceptions toward haze pollution is critical for policymaking and risk communication. However, the perceptions of middle-aged and elderly residents, who particularly vulnerable to haze pollution, are poorly understood. In this study, we aimed to explore their risk perceptions of haze pollution and investigate its relationship with health status and pulmonary function parameters.

Methods
A cross-sectional study of 400 randomly sampled individuals (aged 40 to 90 years) was conducted in Wuxi, a typical PM2.5-polluted city in Jiangsu Province, China (during 2015–2017, daily average concentration of PM2.5 was 52.7 μg/m3). Each participant’s demographic and health information, individual perception and pulmonary function outcomes were collected to explore the relationships between perception factors and personal characteristics and pulmonary function parameters, using linear models.

Results
We found that the mean values for controllability (5 ± 2.8) and dread of risk to oneself (levels of fear for haze-related harm to oneself) (6.9 ± 2.5) were the lowest and the highest values, respectively, in our study. Education and average family income were positively related with all individual perception factors, while age was negatively associated. A history of respiratory disease was positively associated with all individual perception factors except controllability. Significant positive associations were observed between PEF (coefficients ranged from 0.18 to 0.22) and FEF75% (coefficients ranged from 0.18 to 0.29) with a variety of individual perception factors.

Conclusions
There were a lack of concern and knowledge, weak self-protection consciousness and a strong dread of PM2.5 pollution among the middle-aged and elderly residents in Wuxi. Their individual perceptions were associated with age, education levels, average family income, history of respiratory disease, PEF and FEF75%. Our findings may help policymakers develop effective policies and communication strategies to mitigate the hazards of haze among older residents.
ICT-based adherence monitoring in kidney transplant recipients: a randomized controlled trial
Authors: Jung Hee-Yeon , Jeon Yena , Seong Sook Jin , Seo Jung Ju , Choi Ji-Young , Cho Jang-Hee , Park Sun-Hee , Kim Chan-Duck , Yoon Young-Ran , Yoon Se-Hee , Lee Jong Soo , Kim Yong-Lim 
Published: June 2020

Abstract
Background
Prior studies have explored the use of regular reminders to improve adherence among kidney transplant recipients (KTRs), but none have included real-time alarms about drug dosage, frequency, and interval. In the present study, we aimed to evaluate the efficacy and stability of an information and communication technology (ICT)-based centralized monitoring system for increasing medication adherence among Korean KTRs.

Methods
In this prospective, multicenter, randomized controlled study, enrolled KTRs were randomized to either the ICT-based centralized monitoring group or control group. The ICT-based centralized monitoring system alerted both patients and medical staff with texts and pill box alarms if there was a missed dose or a dosage/time error. We compared the two groups in terms of medication adherence and transplant outcomes over 6 months, and evaluated patient satisfaction with the ICT-based monitoring system.

Results
Among 114 enrolled KTRs, 57 were assigned to the ICT-based centralized monitoring group and 57 to the control group. The two groups did not significantly differ in mean adherence at each follow-up visit. The intrapatient variability of tacrolimus and mycophenolic acid levels, renal function, and adverse transplant outcomes did not differ between the intervention and control groups, or between the intervention group with feedback generation and the intervention group without feedback generation. Patients showed high overall satisfaction with the ICT-based centralized monitoring system, which significantly improved across the study period (p = 0.012).

Conclusions
Due to high baseline adherence, the ICT-based centralized monitoring system did not maximize medication adherence or enhance transplant outcomes among Korean KTRs. However, patients were highly satisfied with the system. Our results suggest that the ICT-based centralized monitoring system could be successfully applied in clinical trials.

Trial registration
ClinicalTrials.gov, NCT03136588. Registered 20 April 2017 - Retrospectively registered.
Reduced frequency and functional defects of CD4+CD25highCD127low/− regulatory T cells in patients with unexplained recurrent spontaneous abortion
Authors: Luo Li , Zeng Xun , Huang Zhongying , Luo Shan , Qin Lang , Li Shangwei 
Published: June 2020

Abstract
Background
Unexplained recurrent spontaneous abortion (URSA) is defined as two or more consecutive pregnancy losses, generally of unknown cause; it is related to a failure of fetal–maternal immunological tolerance. Regulatory T cells (Tregs) exert immunosuppressive effects, which are essential to maintain fetal–maternal immunological tolerance and regulate immune balance. In this study, we used the specific cell-surface phenotype of CD4+CD25highCD127low/− Tregs to investigate the number and suppressive function of Tregs isolated from the peripheral blood of patients with URSA with the aim of expanding our understanding of their role in URSA.

Methods
We isolated a relatively pure population of peripheral CD4+CD25highCD127low/− Tregs and CD4+CD25− responder T cells (Tresps) from the patients with URSA and normal fertile nonpregnant control women via fluorescence-activated cell sorting. We compared the frequency, suppressive capacity, and forkhead box transcription factor P3 (FOXP3) expression of Tregs in the peripheral blood between patients with URSA and normal controls.

Results
The frequency of CD4+CD25highCD127low/− Tregs in the peripheral blood was lower in URSA patients than in the controls (P < 0.05). The mean fluorescence intensity of FOXP3 and FOXP3 mRNA expression in Tregs was also significantly lower in the URSA patients (P < 0.01). Tregs suppressed the activity of autologous Tresps stimulated with anti-CD3/CD28 beads in a concentration-dependent manner, with the strongest suppression occurring in cocultures with a 1:1 Treg:Tresp ratio in both groups; however, patient-derived Tregs exhibited a poorer capacity to suppress the proliferation of autologous Tresps than the Tregs from normal controls (P < 0.01). Moreover, Tregs isolated from URSA patients inhibited the proliferation of Tresps from normal controls less potently than the Tregs from normal controls (P < 0.01), and Tresps from URSA patients were less effectively suppressed by autologous Tregs than by those from normal controls (P < 0.01). Tresp activity were intact in both groups.

Conclusions
We observed a lower frequency of peripheral CD4+CD25highCD127low/− Tregs with lower FOXP3 expression in the peripheral blood of URSA patients. In addition, highly purified Tregs from patients with URSA exhibited impaired suppressive effects. The defect in immune regulation in URSA patients appears to be primarily related to impaired Tregs, and not to increased resistance of Tresps to suppression. Our findings reveal a potential novel therapeutic target for URSA.
How do changes in flow magnitude due to hydroelectric power production affect fish abundance and diversity in temperate regions? A systematic review protocol
Authors: Harper Meagan , Rytwinski Trina , Taylor Jessica J. , Bennett Joseph R. , Smokorowski Karen E. , Cooke Steven J. 
Published: June 2020

Abstract
Background
Natural flow regimes are an essential component of healthy fluvial systems, but hydropower production alters flow components, disrupting natural processes and impacting species reliant on them. Establishing improved management of flow regimes requires a better understanding of how fish respond to altered flow components, such as flow magnitude. We recently conducted a systematic map to provide a summary of the existing literature base on the impacts of flow regime changes on direct outcomes of freshwater or estuarine fish productivity. Of those studies considering the impacts of flow magnitude changes due to hydropower, studies on fish abundance, biomass and diversity responses were identified as subtopics (i.e., knowledge clusters) that had sufficient coverage for further review. This systematic review proposes to estimate how fish abundance, biomass and diversity are affected by alterations in flow magnitude due to hydropower production.

Methods
This systematic review will use evidence identified during a systematic map process. An updated English language search will be performed using six bibliographic databases, Google Scholar, and networking tools to include academic and grey literature published after 2016. Eligibility screening will be conducted at two stages: (1) title and abstract, and (2) full-text. We will include all studies that evaluate the impact of changes to (or manipulations of) flow magnitude due to hydropower on fish abundance, density, biomass, yield, species richness, composition or diversity indices. The focus of this review will be on the downstream fluvial effects of flow magnitude changes and include hydroelectric facilities where water moves via gravity or by active pumping. Any freshwater or estuarine fish species or species group in temperate regions will be considered. Included eligible studies will undergo a critical appraisal that will assess the internal study validity. We will extract information on study characteristics, intervention/exposure and comparator details, measured outcomes, and effect modifiers. A narrative synthesis will describe the quantity and characteristics of available evidence, and where sufficient numbers of similar studies are available, meta-analysis will be conducted to estimate an overall mean and variance of effect.
Influence of Pore Structure Characteristics on the Mechanical and Durability Behavior of Pervious Concrete Material Based on Image Analysis
Authors: Liu Ruyan , Chi Yin , Chen Shengyun , Jiang Qinghui , Meng Xiaoyu , Wu Kun , Li Shengjia 
Published: June 2020

AbstractPervious concrete has been widely used in parking lots and other lightweight streets. Performances of pervious concrete are strongly dependent on its pore structure characteristics. This paper investigates the relationship among porosity, permeability, compressive strength, durability and the pore structure characteristics of pervious concrete. The influences of basalt fiber and fine aggregate on the pervious concrete are also discussed. Pervious concrete specimens with different pore structures were prepared by combining basalt aggregate with size of 5–10 mm and 10–15 mm at different proportion. The pore structure characteristics such as area porosity, pore sizes, and pore distribution of pervious concrete were obtained and analyzed using image analysis method. Experimental results showed that the pore structure characteristics of pervious concrete have effects on its mechanical and durability behaviors. Homogeneous pore distribution and large distances between pores increase the compressive strength and improve freeze–thaw durability of pervious concrete. Due to the difference in the internal pore structure of pervious concretes, specimens with similar volumetric porosities had different permeability coefficients. A series of numerical models were regenerated through a MATLAB code using pore structural parameters derived from the image analysis method, then the numerical models were fed to ANSYS for meshing and further simulation. The comparison of the simulation and experimental results showed close accuracy, which verified the applied simulation analysis method based on image analysis technology.
Body dissatisfaction, addiction to exercise and risk behaviour for eating disorders among exercise practitioners
Authors: Freire Gabriel Lucas Morais , da Silva Paulo Josy Rawane , da Silva Adson Alves , Batista Roseana Pacheco Reis , Alves Juliana Fonseca Nogueira , do Nascimento Junior José Roberto Andrade 
Published: June 2020

Abstract
Objective
This study investigated the association between body dissatisfaction (BD), addiction to exercise and risk behaviors to eating disorders (EDs) among Brazilian exercise practitioners, besides comparing the variables according to sex, age group and modality.

Methods
Participants were 60 exercice practitioners of fitness (n = 44) and crossfit (n = 16), with mean age of 26.58 ± 7.76 years. Data collection was conducted through Eating Attitudes Test-26 (EAT-26), Diagnosis of Orthorexia Questionnaire (ORTO-15), Body Shape Questionnaire (BSQ) and Scale of Dedication to Exercise (SDE). Data analysis was conducted through Kolmogorov-Smirnov and independent t tests, Pearson correlation, and Path Analysis (p < .05).

Results
Main results showed the association between BD, addiction to exercise and risk behaviour for EDs. Further, individuals dissatisfied with their bodies showed higher level of addiction to exercise and risk behavior for EDs. Furthermore, women showed higher presence of BD than men, and fitness participants reported higher presence of addiction to exercise than crossfit practitioners.

Conclusions
This study revealed that BD seems to be a determinant factor for risk behavior for ED’s and addiction to exercise among fitness and crossfit particpants.