bluuebunny/crossref_metadata_2025_split huggingface dataset:
Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders
Authors: Yammine T , Reynaud N , Lejeune H , Diguet F , Rollat-Farnier P A , Labalme A , Plotton I , Farra C , Sanlaville D , Chouery E , Schluth-Bolard C 
Published: April 2021

Abstract
Male infertility affects about 7% of the general male population. Balanced structural chromosomal rearrangements are observed in 0.4–1.4% of infertile males and are considered as a well-established cause of infertility. However, underlying pathophysiological mechanisms still need to be clarified. A strategy combining standard and high throughput cytogenetic and molecular technologies was applied in order to identify the candidate genes that might be implicated in the spermatogenesis defect in three male carriers of different balanced translocations. Fluorescence in situ hybridization (FISH) and whole-genome paired-end sequencing were used to characterize translocation breakpoints at the molecular level while exome sequencing was performed in order to exclude the presence of any molecular event independent from the chromosomal rearrangement in the patients. All translocation breakpoints were characterized in the three patients. We identified four variants: a position effect on LACTB2 gene in Patient 1, a heterozygous CTDP1 gene disruption in Patient 2, two single-nucleotide variations (SNVs) in DNAH5 gene and a heterozygous 17q12 deletion in Patient 3. The variants identified in this study need further validation to assess their roles in male infertility. This study shows that beside the mechanical effect of structural rearrangement on meiosis, breakpoints could result in additional alterations such as gene disruption or position effect. Moreover, additional SNVs or copy number variations may be fortuitously present and could explain the variable impact of chromosomal rearrangements on spermatogenesis. In conclusion, this study confirms the relevance of combining different cytogenetic and molecular techniques to investigate patients with spermatogenesis disorders and structural rearrangements on genomic scale.
Prey utilization by Neptunea arthritica (Caenogastropoda: Buccinidae): predation on gastropods and size-related variation
Authors: Yamakami Ryusei , Wada Satoshi 
Published: April 2021

ABSTRACT
The whelk Neptunea arthritica (Buccinidae) is a common fishery species in Hokkaido, northern Japan. Although ecological information is needed for fisheries management, there is only one paper examining the foraging ecology of this species and it reported that N. arthritica preyed mainly on the invasive mussel Mytilus galloprovincialis. To date, no studies have examined utilization of native prey species by this whelk. Here, we report the findings of a study on the native prey utilization by N. arthritica in an area where M. galloprovincialis is not present. We conducted line transect sampling every month from May 2018 to May 2019 on the western coast of Hakodate Bay, southwestern Hokkaido, Japan. Prey items were composed mostly of gastropods (72%), followed by bivalves (24%) and only a small amount of carrion (&lt;4%). Overlapping spatial distributions were observed among size classes of N. arthritica, while the prey utilization varied with body size. Small individuals (&lt;30 mm in shell height) preyed mainly on the small colloniid gastropod Homalopoma sangarense, while larger individuals (&gt;40 mm) preyed mainly on two tegulid gastropods (Chlorostoma lischkei and Omphalius rusticus) and two venerid bivalves (Protothaca euglypta and Ruditapes philippinarum). There were positive size relationships between whelk body size and prey size for prey categories (Vetigastropoda, Caenogastropoda and Bivalvia) and even for the same prey species (H. sangarense, O. rusticus and P. euglypta). These results suggest that N. arthritica is a predator of mobile gastropods, especially during its early life stage, in areas without the invasive Mediterranean mussel. It is possible that the foraging strategy of N. arthritica may differ quite markedly between areas with and without the invasive mussel.
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
Authors: Geoffroy Véronique , Guignard Thomas , Kress Arnaud , Gaillard Jean-Baptiste , Solli-Nowlan Tor , Schalk Audrey , Gatinois Vincent , Dollfus Hélène , Scheidecker Sophie , Muller Jean 
Published: April 2021

AbstractWith the dramatic increase of pangenomic analysis, Human geneticists have generated large amount of genomic data including millions of small variants (SNV/indel) but also thousands of structural variations (SV) mainly from next-generation sequencing and array-based techniques. While the identification of the complete SV repertoire of a patient is getting possible, the interpretation of each SV remains challenging. To help identifying human pathogenic SV, we have developed a web server dedicated to their annotation and ranking (AnnotSV) as well as their visualization and interpretation (knotAnnotSV) freely available at the following address: https://www.lbgi.fr/AnnotSV/. A large amount of annotations from &gt;20 sources is integrated in our web server including among others genes, haploinsufficiency, triplosensitivity, regulatory elements, known pathogenic or benign genomic regions, phenotypic data. An ACMG/ClinGen compliant prioritization module allows the scoring and the ranking of SV into 5 SV classes from pathogenic to benign. Finally, the visualization interface displays the annotated SV in an interactive way including popups, search fields, filtering options, advanced colouring to highlight pathogenic SV and hyperlinks to the UCSC genome browser or other public databases. This web server is designed for diagnostic and research analysis by providing important resources to the user.
Load-Sharing Classification Score as Supplemental Grading System in the Decision-Making Process for Patients With Thoracolumbar Injury Classification and Severity 4
Authors: Alan Nima , Donohue Joseph , Ozpinar Alp , Agarwal Nitin , Kanter Adam S , Okonkwo David O , Hamilton D Kojo 
Published: April 2021

Abstract

BACKGROUND
Patients with Thoracolumbar Injury Classification and Severity (TLICS) score of 4 fall into a gray zone between surgical and conservative management. The integrity of posterior ligamentous complex (PLC) evaluated by magnetic resonance imaging (MRI) contributes to surgical decision-making. Load-sharing classification (LSC) may provide a modifier to further guide decision-making in these patients.

OBJECTIVE
To evaluate associations between LSC score and MRI acquisition, compromise of PLC on MRI, and surgical intervention in TLICS 4 patients.

METHODS
A cohort of 111 neurologically intact patients with isolated thoracolumbar burst fracture with TLICS 4 was evaluated. LSC score was determined based on degree of comminution (1-3), apposition (1-3), and kyphosis (1-3), total composite score of 3 to 9.

RESULTS
Overall, 44 patients underwent MRI, 15 had PLC injury, and 32 (28.8%) underwent surgery. LSC score was higher in patients who had an MRI (median 6 vs 3, P < .001) and patients who had surgery (median 7 vs 4, P < .001). In univariate logistic regression, LSC score was associated with MRI acquisition (odds ratio [OR] 1.7; 1.32-2.12; P < .001), presence of PLC injury on MRI (OR 1.5; 1.2-2.0; P = .002) and, in multivariate logistic regression, undergoing surgical intervention (OR 3.7; 2.3-5.9; P < .001), independent of MRI or PLC injury.

CONCLUSION
LSC score in neurologically intact patients with isolated thoracolumbar burst fracture with TLICS 4 was independently associated with operative intervention. The application of LSC may further guide decision-making in this patient group.
Non-Hodgkin lymphoma of bone of the femur and humerus: a case report and review of the literature
Authors: Mremi Alex , Pyuza Jeremia J , Ahmad Bilal , Andongolile Alice A , Sadiq Adnan , Yahaya James J , Szuhai Karoly , Hogendoorn Pancras C W 
Published: April 2021

ABSTRACT
Lymphoma of bone is a rare neoplasm composed of malignant lymphoid cells, producing a tumefactive lesion within bone. We report a 13-year-old male who presented with progressively increasing swellings at the right shoulder and right mid-thigh for one month. Radiological images revealed lytic destructive lesions associated with soft tissue masses in both sites and a pathological fracture on the right humerus. The patient had no significant medical history. Histological, immunohistochemical and fluorescent in-situ hybridization assessment of biopsies from the lesions confirmed the diagnosis of primary non-Hodgkin lymphoma of bone. Unfortunately, due to coronavirus disease 2019 outbreak, the patient was unable to follow-up treatment and died shortly after establishment of the diagnosis. Delay in diagnosis and treatment is of serious concern when it comes to improve the prognosis of patients with this disease.
Stress memory gene FaHSP17.8-CII controls thermotolerance via remodeling PSII and ROS signaling in tall fescue
Authors: Bi Aoyue , Wang Tao , Wang Guangyang , Zhang Liang , Wassie Misganaw , Amee Maurice , Xu Huawei , Hu Zhengrong , Liu Ao , Fu Jinmin , Chen Liang , Hu Tao 
Published: April 2021

Abstract
High temperature is the most limiting factor in the growth of cool-season turfgrass. To cope with high-temperature stress, grass often adopt a memory response by remembering one past recurring stress and preparing a quicker and more robust reaction to the next stress exposure. However, little is known about how stress memory genes regulate the thermomemory response in cool-season turfgrass. Here, we characterized a transcriptional memory gene, Fa-heat shock protein 17.8 Class II (FaHSP17.8-CII) in a cool-season turfgrass species, tall fescue (Festuca arundinacea Schreb.). The thermomemory of FaHSP17.8-CII continued for more than 4 d and was associated with a high H3K4me3 level in tall fescue under heat stress (HS). Furthermore, heat acclimation or priming (ACC)-induced reactive oxygen species (ROS) accumulation and photosystem II (PSII) electron transport were memorable, and this memory response was controlled by FaHSP17.8-CII. In the fahsp17.8-CII mutant generated using CRISPR/Cas9, ACC+HS did not substantially block the ROS accumulation, the degeneration of chloroplast ultra-structure, and the inhibition of PSII activity compared with HS alone. However, overexpression of FaHSP17.8-CII in tall fescue reduced ROS accumulation and chloroplast ultra-structure damage, and improved chlorophyll content and PSII activity under ACC+HS compared with that HS alone. These findings unveil a FaHSP17.8-CII–PSII-ROS module regulating transcriptional memory to enhance thermotolerance in cool-season turfgrass.
A Systematic Review of Practiced-Based Research of Complementary and Integrative Health Therapies as Provided for Pain Management in Clinical Settings: Recommendations for the Future and a Call to Action
Authors: Dyer Natalie L , Surdam Jessica , Dusek Jeffery A 
Published: April 2021

Abstract

Objective
The goal of this systematic review was to evaluate practice-based, real-world research of individualized complementary and integrative health (CIH) therapies for pain as provided in CIH outpatient clinics.

Methods
A systematic review was conducted on articles in PubMed, Ovid, Cochrane, Web of Science, Scopus, and Embase published through December 2020. The study was listed in the PROSPERO database (CRD42020159193). Major categories of variables extracted included study details and demographics, interventions, and outcomes.

Results
The literature search yielded 3,316 records, with 264 assessed for full-text review. Of those, 23 studies (including ∼8,464 patients) were specific to pain conditions as a main outcome. Studies included chiropractic, acupuncture, multimodal individualized intervention/programs, physiotherapy, and anthroposophic medicine therapy. Retention rates ranged from 53% to 91%, with studies offering monetary incentives showing the highest retention. The 0–10 numerical rating scale was the most common pain questionnaire (n = 10; 43% of studies), with an average percent improvement across all studies and time points of 32% (range: 18–60%).

Conclusions
Findings from this systematic review of practice-based, real-word research indicate that CIH therapies exert positive effects on various pain outcomes. Although all studies reported beneficial impacts on one or more pain outcomes, the heterogeneous nature of the studies limits our overall understanding of CIH as provided in clinical settings. Accordingly, we present numerous recommendations to improve publication reporting and guide future research. Our call to action is that future practice-based CIH research is needed, but it should be more expansive and conducted in association with a CIH scientific society with academic and health care members.
The synergistic efficacy of hydroxychloroquine with methotrexate is accompanied by increased erythrocyte mean corpuscular volume
Authors: Shipa Muhammad Ruhul Amin , Yeoh Su-Ann , Embleton-Thirsk Andrew , Mukerjee Dev , Ehrenstein Michael R 
Published: April 2021

Abstract

Objectives
To determine whether concomitant HCQ modulates the increase in erythrocyte mean corpuscular volume (MCV) caused by MTX therapy, and whether this is associated with improved clinical response in RA.

Methods
A retrospective observational analysis was conducted on two independent hospital datasets of biologic-naïve, early-RA patients who started oral MTX. Baseline characteristics, DAS28-ESR and monthly MCV after starting MTX were obtained. Conventional and machine-learning statistical approaches were applied to the discovery cohort (Cohort 1, 655 patients) and results validated using Cohort 2 (225 patients).

Results
HCQ therapy with MTX was associated with a 2-fold increase in the likelihood of response defined in this study as clinical remission or low disease activity at 6 months (P &lt;0.001). The improved clinical outcome of combination HCQ and MTX therapy was associated with an accelerated rise in MCV from 2 months after commencing therapy. The increase in MCV at 3 months was equivalent to the contemporaneous reduction in the DAS (DAS28-ESR) in predicting clinical response at 6 months. Using latent class mixed modelling, five trajectories of MCV change over 6 months from baseline were identified. The odds ratio of response to treatment was 16.2 (95% CI 5.7, 46.4, P &lt;0.001) in those receiving combination therapy classified within the MCV elevation &gt;5 fl class, which contained the most patients, compared with MTX alone.

Conclusion
Our data provide mechanistic insight into the synergistic clinical benefit of concomitant HCQ with MTX, boosting the rise in MCV, which could serve as a companion biomarker of treatment response.
A systematic review and meta-analysis of the incidence rate of Takayasu arteritis
Authors: Rutter Megan , Bowley Jonathan , Lanyon Peter C , Grainge Matthew J , Pearce Fiona A 
Published: April 2021

Abstract

Objectives
Takayasu arteritis (TAK) is a rare autoimmune rheumatic disease causing large-vessel vasculitis. Onset is typically between the ages of 20 and 30 years. It is associated with substantial morbidity and mortality, notably due to its effects on the cardiovascular system. It has a poorly understood global epidemiology. Our objective was to systematically review the available evidence in order to calculate the incidence rate of TAK.

Methods
Three databases (MEDLINE, PubMed and Embase) were searched in November 2019 and the results were screened by two reviewers. A random effects meta-analysis was then conducted in R to calculate the overall incidence rate. Heterogeneity was assessed using I2. The quality of the studies was assessed using an adapted Newcastle–Ottawa scale. Further subgroup analyses were performed by quality, sex, research setting and geographical location. Publication bias was assessed using a Begg’s funnel plot.

Results
The incidence rate for TAK was 1.11 per million person-years (95% CI 0.70–1.76). The heterogeneity in the data was extremely high in all analyses, which suggests that there was considerable variation in incidence rates across the different populations studied. TAK was found to be more common in women (incidence rate 2.01 per million person-years, 95% CI 1.39–2.90).

Conclusions
TAK is an extremely rare disease. It affects women more commonly than men. There is considerable variation in the incidence rate between populations. We suggest that future research should focus on discrete populations in order to better identify genetic and environmental risk factors.
The intergenerational transmission of gender norms—why and how adolescent males with working mothers matter for female labour market outcomes
Authors: Schmitz Sophia , Spiess C Katharina 
Published: April 2021

AbstractSocial norms are put forward as a prominent explanation for the changing labour supply decisions of women. This paper studies the intergenerational transmission of these norms, examining how they affect subsequent female labour supply decisions, taking into account not only the early socialization of women but also that of their partner. Using large representative panel data sets from West Germany, results suggest that women with partners who grew up with a working mother are more likely to participate in the labour force, work longer hours and earn higher labour income. The main contribution of our study is that we assess a variety of potential mechanisms for this intergenerational link. We find no evidence that this finding reflects assortative mating; rather, analysis suggests that the partner’s preferences are based on their experiences with the employment of their mothers and play a decisive role for the labour supply decision of partnered women. Moreover, we identify various effect heterogeneities, finding stronger associations for women with potentially less bargaining power. Our results suggest that policy measures supporting the labour force participation of today’s mothers will increase the female labour force participation of the next generation.
Discrimination and sleep among Asians and Pacific Islanders adults
Authors: Ogbenna Bethany Townsend , Ryu Soomin , Lee Sunmin , Slopen Natalie 
Published: April 2021

AbstractStudy ObjectivesTo examine the association between discrimination and sleep duration and difficulty among Asians and Pacific Islanders (APIs) in the United States, and to test nativity and ethnic identity (EI) as effect modifiers.MethodsThis cross-sectional study of 1,765 adults from the National Epidemiology Study of Alcohol and Related Conditions III, assessed discrimination using the Experiences of Discrimination scale. Discrimimation was classified as low, moderate, and high. Regression models were used to examine self-reported sleep duration and difficulty.ResultsIn bivariate analyses, individuals with high discrimination had the shortest sleep and reported sleep difficulty most often. Using linear models adjusted for sociodemographic and health characteristics, moderate and high discrimination were associated with 9 min (standard error [SE]: 4.8, p &lt; .10) and 14.4 min (SE: 6.0, p &lt; .05) less sleep, respectively, relative to low discrimination. Individuals with moderate and high discrimination had higher prevalence of sleep difficulty compared to those with low discrimination (prevalence ratio [PR]: 1.51, 95% confidence interval [CI]: 1.14–1.99 and PR: 1.73, 95% CI: 1.33–2.24, respectively). Interaction effect was observed in sleep difficulty by nativity and EI, but not duration. The association between discrimination and sleep difficulty was stronger among U.S.-born relative to foreign-born participants. Among participants with low EI, moderate and high discrimination were associated with sleep difficulty, whereas among those with high EI, only high discrimination displayed this association.ConclusionsDiscrimination is associated with sleep duration and difficulty, and varies by nativity and EI. Research is needed to improve sleep among APIs that experience discrimination.
Stability and Change in German Parents’ Childcare Patterns Across Two Decades
Authors: Steinbach Anja , Schulz Florian 
Published: April 2021

Abstract
Although German mothers’ labor force participation has increased in recent decades, German men’s participation in domestic labor has not increased proportionally. Thus, mothers still face a “double burden.” We analyzed the total time parents spent on childcare and on various particular activities, such as learning with children, playing with children, basic childcare, talking with children, managing children’s activities, and reading with children. We identified a very slow gender convergence in childcare patterns in Germany over the last two decades. However, as in other Western countries, German parents’ division of childcare remains unequal; mothers do much more routine care and spend more time overall on care than fathers.
Imidazolidinyl urea activates mast cells via MRGPRX2 to induce non-histaminergic allergy
Authors: Gao Jiapan , Che Delu , Du Xueshan , Zheng Yi , Jing Huiling , Wang Nan 
Published: April 2021

Abstract
Imidazolidinyl urea (IU) is used as an antimicrobial preservative in cosmetic and pharmaceutical products. IU induces allergic contact dermatitis, however, the mechanism has not yet been elucidated. Mas-related G protein-coupled receptor-X2 (MRGPRX2) triggers drug-induced pseudo-allergic reactions. The aims of this study were to determine whether IU activated mast cells through MRGPRX2 to further trigger contact dermatitis. Wild-type (WT) and KitW-sh/HNihrJaeBsmJNju (MUT) mice were treated with IU to observe its effects on local inflammation and mast cells degranulation in vivo. Laboratory of allergic disease 2 cells were used to detect calcium mobilization and release of inflammatory mediators in vitro. WT mice showed a severe local inflammatory response and contact dermatitis, whereas only slight inflammatory infiltration was observed in MUT mice. Thus, MRGPRX2 mediated the IU-induced activation of mast cells. However, histamine, a typical allergen, was not involved in this process. Tryptase expressed by mast cells was the major non-histaminergic inflammatory mediator of contact dermatitis. IU induced anaphylactic reaction via MRGPRX2 and further triggering non-histaminergic contact dermatitis, which explained why antihistamines are clinically ineffective against some chronic dermatitis.