bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequent copy number variants in a cohort of Mexican-Mestizo individuals
Authors: Sánchez Silvia , Juárez Ulises , Domínguez Julieta , Molina Bertha , Barrientos Rehotbevely , Martínez-Hernández Angélica , Carnevale Alessandra , Grether-González Patricia , Mayen Dora Gilda , Villarroel Camilo , Lieberman Esther , Yokoyama Emiy , Del Castillo Victoria , Torres Leda , Frias Sara 
Published: January 2023

Abstract
Background
The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes. Common CNVs have no apparent influence on the phenotype; however, some rare CNVs have been associated with phenotypic traits, depending on their size and gene content. CNVs are detected by microarrays of different densities and are generally visualized, and their frequencies analysed using the HapMap as default reference population. Nevertheless, this default reference is inadequate when the samples analysed are from people from Mexico, since population with a Hispanic genetic background are minimally represented. In this work, we describe the variation in the frequencies of four common CNVs in Mexican-Mestizo individuals.

Results
In a cohort of 147 unrelated Mexican-Mestizo individuals, we found that the common CNVs 2p11.2 (99.6%), 8p11.22 (54.5%), 14q32.33 (100%), and 15q11.2 (71.1%) appeared with unexpectedly high frequencies when contrasted with the HapMap reference (ChAS). Yet, while when comparing to an ethnically related reference population, these differences were significantly reduced or even disappeared.

Conclusion
The findings in this work contribute to (1) a better description of the CNVs characteristics of the Mexican Mestizo population and enhance the knowledge of genome variation in different ethnic groups. (2) emphasize the importance of contrasting CNVs identified in studied individuals against a reference group that—as best as possible—share the same ethnicity while keeping this relevant information in mind when conducting CNV studies at the population or clinical level.
Hypertension contributes to exacerbated osteoarthritis pathophysiology in rats in a sex-dependent manner
Authors: Yeater Taylor D. , Griffith Jacob L. , Cruz Carlos J. , Patterson Folly M. , Aldrich Jessica L. , Allen Kyle D. 
Published: January 2023

AbstractBackgroundHypertension is a common comorbidity of osteoarthritis (OA) with known autonomic dysregulation; thus, the autonomic nervous system may provide a shared underlying mechanism. The objective of this study was to examine the role of the autonomic nervous system in a preclinical model of OA and hypertension.MethodsExperiments were conducted in spontaneously hypertensive rats and a normotensive control strain, including male and female rats. OA was surgically induced via medial meniscus transection with skin incision used as a sham control (n= 7–8/strain/sex/surgery). Tactile sensitivity, anxiety-related behavior, and serum corticosterone were measured at baseline then bi-weekly across 8 weeks. At weeks 9–10, cardiovascular responses to a chemical vagal nerve agonist were determined to indirectly evaluate vagus nerve function. The joint structure was assessed via grading of histological sections.ResultsIn males, OA resulted in thinner cartilage in both hypertensive (OA vs. non-OAp< 0.001) and normotensive (OA vs. non-OAp< 0.001). Only females with comorbid hypertension and OA displayed thinner cartilage (p= 0.013). Male hypertensive OA animals had increased calcified subchondral bone compared to normotensive OA animals (p= 0.043) while female hypertensive OA animals had increased calcified subchondral bone compared to hypertensive sham animals (p< 0.001). All MCLT+MMT groups developed low-grade synovitis; interestingly, hypertensive OA females had higher synovitis scores than normotensive OA females (p= 0.046). Additionally, hypertension led to larger drops in blood pressure with vagal activation in both OA (hypertensive vs. normotensivep= 0.018) and sham (hypertensive vs. normotensivep< 0.001) male animals. In females, this trend held true only in OA animals (normotensive vs. hypertensivep= 0.005).ConclusionThese data provide preliminary evidence that hypertension influences OA progression and encourages further study into the autonomic nervous system as a possible mechanism.
Biochemical and molecular biomarkers: unraveling their role in gestational diabetes mellitus
Authors: Karami Masoumeh , Mousavi Seyyed Hossein , Rafiee Mohammad , Heidari Reza , Shahrokhi Seyedeh Zahra 
Published: January 2023

AbstractGestational diabetes mellitus (GDM) is the most prevalent metabolic disorder during pregnancy, causing short- and long-term complications for both mother and baby. GDM is a multifactorial disease, and it may be affected by interactions between genetic, epigenetic, and environmental factors. However, the exact etiology is poorly understood. Despite the high prevalence of GDM, there is still debate regarding the optimal time for screening, the diagnostic threshold to apply, and the best strategies for treatment. Identifying effective strategies for therapeutic purposes as well as accurate biomarkers for prognostic and diagnostic purposes will reduce the GDM incidence and improve its management. In recent years, new biochemical and molecular biomarkers such as microRNAs, single-nucleotide polymorphisms, and DNA methylation have received great interest in the diagnosis of GDM. In this review, we discuss current and future diagnostic approaches for the detection of GDM and evaluate lifestyle and pharmacological strategies for GDM prevention.
Laser-activated autologous adipose tissue-derived stromal vascular fraction restores spinal cord architecture and function in multiple sclerosis cat model
Authors: Farid Mariam F. , Abouelela Yara S. , Yasin Noha A. E. , Al-Mokaddem Asmaa K. , Prince Abdelbary , Ibrahim Marwa A. , Rizk Hamdy 
Published: January 2023

Abstract
Background
Multiple sclerosis (MS) is the most frequent non-traumatic neurological debilitating disease among young adults with no cure. Over recent decades, efforts to treat neurodegenerative diseases have shifted to regenerative cell therapy. Adipose tissue-derived stromal vascular fraction (SVF) comprises a heterogeneous cell population, considered an easily accessible source of MSCs with therapeutic potential in autoimmune diseases. This study aimed to assess the regenerative capacity of low-level laser-activated SVF in an MS cat model.

Methods
Fifteen adult Persian cats were used in this study: Group I (control negative group, normal cats), Group II (EB-treated group, induced for MS by ethidium bromide (EB) intrathecal injection), and Group III (SVF co-treated group, induced for MS then treated with SVF on day 14 post-induction). The SVF was obtained after digesting the adipose tissue with collagenase type I and injecting it intrathecal through the foramen magnum.

Results
The results showed that the pelvic limb’s weight-bearing locomotion activity was significantly (P ≤ 0.05) recovered in Group III, and the Basso, Beattie, and Bresnahan (BBB) scores of hindlimb locomotion were significantly higher in Group III (14 ± 0.44) than Group II (4 ± 0.31). The lesion’s extent and intensity were reduced in the magnetic resonance imaging (MRI) of Group III. Besides, the same group showed a significant increase in the expression of neurotrophic factors: BDNF, SDF and NGF (0.61 ± 0.01, 0.51 ± 0.01 and 0.67 ± 0.01, respectively) compared with Group II (0.33 ± 0.01, 0.36 ± 0.006 and 0.2 ± 0.01, respectively). Furthermore, SVF co-treated group revealed a significant (P ≤ 0.05) increase in oligodendrocyte transcription factor (Olig2) and myelin basic protein (4 ± 0.35 and 6 ± 0.45, respectively) that was decreased in group II (1.8 ± 0.22 and 2.9 ± 0.20, respectively). Moreover, group III showed a significant (P ≤ 0.05) reduction in Bax and glial fibrillary acidic protein (4 ± 0.53 and 3.8 ± 0.52, respectively) as compared with group II (10.7 ± 0.49 and 8.7 ± 0.78, respectively). The transmission electron microscopy demonstrated regular more compact, and markedly (P ≤ 0.05) thicker myelin sheaths (mm) in Group III (0.3 ± 0.006) as compared with group II (0.1 ± 0.004). Based on our results, the SVF co-treated group revealed remyelination and regeneration capacity with a reduction in apoptosis and axonal degeneration.

Conclusion
SVF is considered an easy, valuable, and promising therapeutic approach for treating spinal cord injuries, particularly MS.
Understanding the challenges and novel architectural models of multi-cloud native applications – a systematic literature review
Authors: Alonso Juncal , Orue-Echevarria Leire , Casola Valentina , Torre Ana Isabel , Huarte Maider , Osaba Eneko , Lobo Jesus L. 
Published: January 2023

AbstractThe evolution of Cloud Computing into a service utility, along with the pervasive adoption of the IoT paradigm, has promoted a significant growth in the need of computational and storage services. The traditional use of cloud services, focused on the consumption of one provider, is not valid anymore due to different shortcomings being the risk of vendor lock-in a critical. We are assisting to a change of paradigm, from the usage of a single cloud provider to the combination of multiple cloud service types, affecting the way in which applications are designed, developed, deployed and operated over such heterogeneous ecosystems. The result is an effective heterogeneity of architectures, methods, tools, and frameworks, copying with the multi-cloud application concept. The goal of this study is manifold. Firstly, it aims to characterize the multi-cloud concept from the application development perspective by reviewing existing definitions of multi-cloud native applications in the literature. Secondly, we set up the basis for the architectural characterization of these kind of applications. Finally, we highlight several open research issues drawn up from the analysis carried out. To achieve that, we have conducted a systematic literature review (SLR), where, a large set of primary studies published between 2011 and 2021 have been studied and classified. The in-depth analysis has revealed five main research trends for the improvement of the development and operation DevOps lifecycle of “multi-cloud native applications”. The paper finishes with directions for future work and research challenges to be addressed by the software community.
The development of social science research on smart grids: a semi-structured literature review
Authors: Kojonsaari A.-R. , Palm J. 
Published: January 2023

AbstractBackgroundSmart technologies, such as smart grids, are emerging as indispensable aspects of an energy transformation and come with hopes of more sustainable resource use. A substantial amount of research has examined the technical, economic, and environmental implications of these technologies, but less attention has been paid to their social aspects. For the smart grid projects to be realised, studies that include the actors who are supposed to implement the visions are needed.ResultsA semi-structured literature review was conducted to investigate the state of social science literature on smart grids and identify the main research avenues and research gaps by addressing a broad research question: “What kind of knowledge is produced in social science studies on smart grids?” We retrieved peer-reviewed articles from the Scopus and Web of Science (WoS) databases up until 2022 and mapped them in terms of features such as topic, design, method, and theory.ConclusionsWe found that knowledge development in social science studies on smart grids followed a pattern where most research focused on visions; professionals and users; and smart technologies in homes with a geographical focus on Europe or the USA. We identified six research gaps related to an overly vague definition of the smart grid and the need to include more diverse actors and geographical places to advance our understanding of the smart grid. There is also a lack of studies relating to energy democracy, the resistance of smart grids and the centralised–decentralised nexus of the smart grid. These less studied areas can bring in new knowledge that enhances a deployment of a smart grids supporting not only technological development, but also society and users.
Searching for a prognostic index in lupus nephritis
Authors: Rodríguez-Almaraz E. , Gutiérrez-Solís E. , Rabadán E. , Rodríguez P. , Alonso M. , Carmona L. , de Yébenes M. J. García , Morales E. , Galindo-Izquierdo M. 
Published: January 2023

Abstract
Background
Currently we do not have an ideal biomarker in lupus nephritis (LN) that should help us to identify those patients with SLE at risk of developing LN or to determine those patients at risk of renal progression. We aimed to evaluate the development of a prognostic index for LN, through the evaluation of clinical, analytical and histological factors used in a cohort of lupus. We have proposed to determine which factors, 6 months after the diagnosis of LN, could help us to define which patients will have a worse evolution of the disease and may be, more aggressive treatment and closer follow-up.

Methods
A retrospective study to identify prognostic factors was carried out. We have included patients over 18 years of age with a clinical diagnosis of systemic lupus erythematosus (SLE) and kidney involvement confirmed by biopsy, who are followed up in our centre during the last 20 years. A multi-step statistical approach will be used in order to obtain a limited set of parameters, optimally selected and weighted, that show a satisfactory ability to discriminate between patients with different levels of prognosis.

Results
We analysed 92 patients with LN, although only 73 have been able to be classified according to whether or not they have presented poor renal evolution. The age of onset (44 vs. 32; p = 0.024), the value of serum creatinine (1.41 vs. 1.04; p = 0.041), greater frequency of thrombocytopenia (30 vs. 7%; p = 0.038), higher score in the renal chronicity index (2.47 vs. 1.04; p = 0.015), proliferative histological type (100%) and higher frequency of interstitial fibrosis (67 vs. 32%; p = 0.017) and tubular atrophy (67 vs. 32%; p = 0.018) was observed between two groups. The multivariate analysis allowed us to select the best predictive model for poor outcome at 6 months based on different adjustment and discrimination parameters.

Conclusion
We have developed a prognostic index of poor renal evolution in patients with LN that combines demographic, clinical, analytical and histopathological factors, easy to use in routine clinical practice and that could be an effective tool in the early detection and management.
The effects of dietary supplementation with mushroom or selenium enriched mushroom powders on the growth performance and intestinal health of post-weaned pigs
Authors: Dowley Alison , Sweeney Torres , Conway Eadaoin , Vigors Stafford , Ryan Marion T. , Yadav Supriya , Wilson Jude , O’Doherty John V. 
Published: January 2023

AbstractBackgroundThere is an urgent need to identify natural bioactive compounds that can enhance gastrointestinal health and promote pig growth performance in the absence of pharmacological levels of zinc oxide (ZnO). The objectives of this study were to: 1) compare the effects of mushroom powder supplemented with inorganic selenium (inSeMP) to mushroom powder enriched with organic selenium (orgSeMP) to pharmacological levels of ZnO on growth performance and faecal scores (FS) for the first 21 d post-weaning (Period 1); and 2) compare the molecular and microbial effects of inSeMP and orgSeMP in these pigs on d 39 post-weaning (Period 2).MethodsIn Period 1, pigs (3 pigs/pen; 8 pens/treatment) were assigned to: (1) basal diet (control); (2) basal diet + zinc oxide (ZnO) (3100 mg/kg d 1–14, 1550 mg/kg d 15–21); (3) basal diet + mushroom powder supplemented with inorganic selenium (inSeMP) containing selenium (selenite) content of 0.3 mg/kg feed; (4) basal diet + mushroom powder enriched with organic selenium (orgSeMP) containing selenium (selenocysteine) content of 0.3 mg/kg feed. Mushroom powders were included at 6.5 g/kg of feed.ResultsIn Period 1, there was no effect of diets on average daily gain (ADG) and gain:feed (G:F) ratio (P > 0.05). The orgSeMP supplemented pigs had a lower average daily feed intake (ADFI) compared to all other groups (P < 0.05). The ZnO supplemented pigs had reduced FS compared to the basal and mushroom group, while the orgSeMP supplemented pigs had lower FS compared to the basal group during the 21 d experimental period (P < 0.05). In Period 2, there was no effect of diets on ADFI, ADG and G:F ratio (P > 0.05). The orgSeMP supplementation increased the caecal abundance of bacterial members of the Firmicutes and Bacteroidetes phylum, includingLactobacillus, Agathobacter, Roseburia,andPrevotellaand decreased the abundance ofSporobactercompared to the basal group, while inSeMP increased the caecal abundance ofPrevotellaand decreased the caecal abundance ofSporobactercompared to the basal group (P < 0.05). Dietary supplementation with inSeMP increased expression ofTLR4and anti-inflammatory cytokine geneIL10and decreased nutrient transporter geneFABP2compared to the orgSeMP group (P < 0.05).ConclusionOrgSeMP is a novel and sustainable way to incorporate selenium and β-glucans into the diet of weaned pigs whilst improving FS and modulating the caecal microbiota.
Nationwide genomic surveillance reveals the prevalence and evolution of honeybee viruses in China
Authors: Li Nannan , Li Cixiu , Hu Tao , Li Juan , Zhou Hong , Ji Jingkai , Wu Jiangli , Kang Weipeng , Holmes Edward C. , Shi Weifeng , Xu Shufa 
Published: January 2023

Abstract
Background
The economic and environmental value of honeybees has been severely challenged in recent years by the collapse of their colonies worldwide, often caused by outbreaks of infectious diseases. However, our understanding of the diversity, prevalence, and transmission of honeybee viruses is largely obscure due to a lack of large-scale and longitudinal genomic surveillance on a global scale.

Results
We report the meta-transcriptomic sequencing of nearly 2000 samples of the two most important economic and widely maintained honeybee species, as well as an associated ectoparasite mite, collected across China during 2016–2019. We document the natural diversity and evolution of honeybee viruses in China, providing evidence that multiple viruses commonly co-circulate within individual bee colonies. We also expanded the genomic data for 12 important honeybee viruses and revealed novel genetic variants and lineages associated with China. We identified more than 23 novel viruses from the honeybee and mite viromes, with some exhibiting ongoing replication in their respective hosts. Together, these data provide additional support to the idea that mites are an important reservoir and spill-over host for honeybee viruses.

Conclusions
Our data show that honeybee viruses are more widespread, prevalent, and genetically diverse than previously realized. The information provided is important in mitigating viral infectious diseases in honeybees, in turn helping to maintain sustainable productive agriculture on a global scale.
Identifying new biomarkers of aggressive Group 3 and SHH medulloblastoma using 3D hydrogel models, single cell RNA sequencing and 3D OrbiSIMS imaging
Authors: Linke Franziska , Johnson James E. C. , Kern Stefanie , Bennett Christopher D. , Lourdusamy Anbarasu , Lea Daniel , Clifford Steven C. , Merry Catherine L. R. , Stolnik Snow , Alexander Morgan R. , Peet Andrew C. , Scurr David J. , Griffiths Rian L. , Grabowska Anna M. , Kerr Ian D. , Coyle Beth 
Published: January 2023

AbstractThe most common malignant brain tumour in children, medulloblastoma (MB), is subdivided into four clinically relevant molecular subgroups, although targeted therapy options informed by understanding of different cellular features are lacking. Here, by comparing the most aggressive subgroup (Group 3) with the intermediate (SHH) subgroup, we identify crucial differences in tumour heterogeneity, including unique metabolism-driven subpopulations in Group 3 and matrix-producing subpopulations in SHH. To analyse tumour heterogeneity, we profiled individual tumour nodules at the cellular level in 3D MB hydrogel models, which recapitulate subgroup specific phenotypes, by single cell RNA sequencing (scRNAseq) and 3D OrbiTrap Secondary Ion Mass Spectrometry (3D OrbiSIMS) imaging. In addition to identifying known metabolites characteristic of MB, we observed intra- and internodular heterogeneity and identified subgroup-specific tumour subpopulations. We showed that extracellular matrix factors and adhesion pathways defined unique SHH subpopulations, and made up a distinct shell-like structure of sulphur-containing species, comprising a combination of small leucine-rich proteoglycans (SLRPs) including the collagen organiser lumican. In contrast, the Group 3 tumour model was characterized by multiple subpopulations with greatly enhanced oxidative phosphorylation and tricarboxylic acid (TCA) cycle activity. Extensive TCA cycle metabolite measurements revealed very high levels of succinate and fumarate with malate levels almost undetectable particularly in Group 3 tumour models. In patients, high fumarate levels (NMR spectroscopy) alongside activated stress response pathways and high Nuclear Factor Erythroid 2-Related Factor 2 (NRF2; gene expression analyses) were associated with poorer survival. Based on these findings we predicted and confirmed that NRF2 inhibition increased sensitivity to vincristine in a long-term 3D drug treatment assay of Group 3 MB. Thus, by combining scRNAseq and 3D OrbiSIMS in a relevant model system we were able to define MB subgroup heterogeneity at the single cell level and elucidate new druggable biomarkers for aggressive Group 3 and low-risk SHH MB.