bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lipid metabolism within the bone micro-environment is closely associated with bone metabolism in physiological and pathophysiological stages
Authors: Wang Bo , Wang Heng , Li Yuancheng , Song Lei 
Published: January 2022

AbstractRecent advances in society have resulted in the emergence of both hyperlipidemia and obesity as life-threatening conditions in people with implications for various types of diseases, such as cardiovascular diseases and cancer. This is further complicated by a global rise in the aging population, especially menopausal women, who mostly suffer from overweight and bone loss simultaneously. Interestingly, clinical observations in these women suggest that osteoarthritis may be linked to a higher body mass index (BMI), which has led many to believe that there may be some degree of bone dysfunction associated with conditions such as obesity. It is also common practice in many outpatient settings to encourage patients to control their BMI and lose weight in an attempt to mitigate mechanical stress and thus reduce bone pain and joint dysfunction. Together, studies show that bone is not only a mechanical organ but also a critical component of metabolism, and various endocrine functions, such as calcium metabolism. Numerous studies have demonstrated a relationship between metabolic dysfunction in bone and abnormal lipid metabolism. Previous studies have also regarded obesity as a metabolic disorder. However, the relationship between lipid metabolism and bone metabolism has not been fully elucidated. In this narrative review, the data describing the close relationship between bone and lipid metabolism was summarized and the impact on both the normal physiology and pathophysiology of these tissues was discussed at both the molecular and cellular levels.
Adipocyte-specific deletion of PIP5K1c reduces diet-induced obesity and insulin resistance by increasing energy expenditure
Authors: Huang Guan , Yang Cuishan , Guo Sheng , Huang Miaoling , Deng Liping , Huang Ying , Chen Puxin , Chen Feng , Huang Xiaohong 
Published: January 2022

Abstract
Background
Phosphatidylinositol 4-phosphate 5-kinase type I c (PIP5K1c) catalyses the synthesis of phospholipid phosphatidylinositol 4,5-bisphosphate (PIP2) by phosphorylating phosphatidylinositol 4 phosphate, which plays multiple roles in regulating focal adhesion formation, invasion, and cell migration signal transduction cascades. Here, a new physiological mechanism of PIP5K1c in adipocytes and systemic metabolism is reported.

Methods
Adipose-specific conditional knockout mice were generated to delete the PIP5K1c gene in adipocytes. In addition, in vitro research investigated the effect of PIP5K1c deletion on adipogenesis.

Results
Deletion of PIP5K1c in adipocytes significantly alleviated high fat diet (HFD)-induced obesity, hyperlipidaemia, hepatic steatosis, and insulin resistance. PIP5K1c deficiency in adipocytes also decreased adipocyte volume in HFD-induced obese mice, whereas no significant differences were observed in body weight and adipose tissue weight under normal chow diet conditions. PIP5K1c knockout in adipocytes significantly enhanced energy expenditure, which protected mice from HFD-induced weight gain. In addition, adipogenesis was markedly impaired in mouse stromal vascular fraction (SVF) from PIP5K1c-deleted mice.

Conclusion
Under HFD conditions, PIP5K1c regulates adipogenesis and adipose tissue homeostasis. Together, these data indicate that PIP5K1c could be a novel potential target for regulating fat accumulation, which could provide novel insight into the treatment of obesity.
Recurrent malignant peripheral nerve sheath tumor presenting as an asymptomatic intravenous thrombus extending to the heart: a case report
Authors: Hirozane Toru , Nakayama Robert , Yamaguchi Sayaka , Mori Tomoaki , Asano Naofumi , Asakura Keisuke , Kikuta Kazutaka , Kawaida Miho , Sasaki Aya , Okita Hajime , Nakatsuka Seishi , Ito Tsutomu 
Published: January 2022

Abstract
Background
Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue sarcoma mainly treated via surgical resection. Herein, we report a case of MPNST wherein a massive tumor thrombus extended to the major veins and heart.

Case presentation
A 39-year-old female with a history of neurofibromatosis type 1 developed MPNST from the right radial nerve. In addition to adjuvant chemotherapy, she underwent wide tumor resection and concomitant radial nerve resection, followed by postoperative radiotherapy. Histological evaluation revealed marked venous invasion. The 2-year follow-up CT revealed an asymptomatic recurrent tumor thrombus extending from the right subclavian vein to the heart. An urgent life-saving operation was performed to ligate the base of the right subclavian vein and remove the entire intravenous thrombus that extended to the right ventricle. The remaining tumor in the right subclavian vein increased in size 3 months after thrombectomy. After confirming the absence of any metastatic lesions, the patient underwent extended forequarter amputation to achieve surgical remission. One year later, a new metastasis to the right diaphragm was safely resected. The patient remains alive without any evidence of disease 2 years after the extended forequarter amputation.

Conclusions
In cases of a previous history of microscopic venous invasion, recurrence can occur as a massive tumor thrombus that extends to the great vessels.
Gasless, endoscopic trans-axillary thyroid surgery: our series of the first 51 human cases
Authors: Cong Rong , Li Xinying , Ouyang Hui , Xue Wenbo , Zhang Zeyu , Xia Fada 
Published: January 2022

Abstract
Background
The safety of gasless endoscopic trans-axillary thyroid surgery is still undetermined.

Methods
Clinical findings and postoperative complications of patients who had undergone trans-axillary thyroid surgery due to thyroid cancer and thyroid nodules were retrospectively studied. The sensory change and paralysis results from this technique and patients’ satisfaction with the cosmesis were also studied.

Results
Fifty-one patients (49 females and 2 males) received operations by gasless, endoscopic trans-axillary approaches with one patient whose operation was converted to open surgery because of internal jugular vein injury. Only two patients developed temporary vocal cord paralysis and no patients developed other severe complications. The alleviation of the discomfort in the anterior neck area and sternocleidomastoid, and the cosmetic effect of gasless endoscopic trans-axillary thyroid surgery were acceptable. No evidence of recurrence was found during the follow-up period.

Conclusions
Gasless, endoscopic trans-axillary thyroid surgery is a feasible procedure with acceptable safety and better cosmetic results in strictly selected patients.
Feasibility of a virtual reality-based exercise intervention and low-cost motion tracking method for estimation of motor proficiency in youth with autism spectrum disorder
Authors: Hocking Darren R. , Ardalan Adel , Abu-Rayya Hisham M. , Farhat Hassan , Andoni Anna , Lenroot Rhoshel , Kachnowski Stan 
Published: January 2022

AbstractBackgroundMotor impairment is widely acknowledged as a core feature in children with autism spectrum disorder (ASD), which can affect adaptive behavior and increase severity of symptoms. Low-cost motion capture and virtual reality (VR) game technologies hold a great deal of promise for providing personalized approaches to motor intervention in ASD. The present study explored the feasibility, acceptability and potential efficacy of a custom-designed VR game-based intervention (GaitWayXR™) for improving gross motor skills in youth with ASD.MethodsTen children and adolescents (10–17 years) completed six, 20-min VR-based motor training sessions over 2 weeks while whole-body movement was tracked with a low-cost motion capture system. We developed a methodology for using motion tracking data to quantify whole-body movement in terms of efficiency, synchrony and symmetry. We then studied the relationships of the above quantities with standardized measures of motor skill and cognitive flexibility.ResultsOur results supported our presumption that the VR intervention is safe, with no adverse events and very few minor to moderate side-effects, while a large proportion of parents said they would use the VR game at home, the most prohibitive reasons for adopting the system for home therapy were cost and space. Although there was little evidence of any benefits of the GaitWayXR™ intervention in improving gross motor skills, we showed several positive correlations between the standardized measures of gross motor skills in ASD and our measures of efficiency, symmetry and synchrony from low-cost motion capture.ConclusionsThese findings, though preliminary and limited by small sample size, suggest that low-cost motion capture of children with ASD is feasible with movement exercises in a VR-based game environment. Based on these preliminary findings, we recommend conducting larger-scale studies with methods for improving adherence to VR gaming interventions over longer periods.
Exposure to silicates and systemic autoimmune-related outcomes in rodents: a systematic review
Authors: Janssen Lisa M. F. , Ghosh Manosij , Lemaire Frauke , Michael Pollard K. , Hoet Peter H. M. 
Published: January 2022

Abstract
Background
Autoimmunity can result from the interplay between genetic background and effects of environmental and/or occupational exposure to hazardous materials. Several compounds, including silica dust, have been linked with systemic autoimmunity and systemic autoimmune diseases, based on epidemiological evidence. For asbestos, a strong link with systemic autoimmune diseases does not yet exist, however, several studies have documented features of autoimmunity following asbestos exposure. Even so, human studies are limited in their ability to identify and examine isolated exposures, making it difficult to demonstrate causation or to assess pathogenic mechanisms. Therefore, this systematic review examines the existing animal evidence regarding autoimmunity and exposure to silicates (silica and asbestos).

Methods
PubMed and EMBASE were systematically searched for peer-reviewed studies examining systemic autoimmune disease-related outcomes after silicate exposure in rodents. Literature databases were searched up to September 2021 for studies written in English and where the full text was available. Search strings were established based on a PECO (Population, Exposure, Comparator, Outcome) format. After title, abstract, and full-text screening, thirty-four studies were identified for further analysis. Quality assessment through ToxR tool and qualitative analysis of the results was performed.

Results
Although there was significant heterogeneity in the included studies in terms of exposure protocol and genetic background of the rodent models used, it was noted that both genetic background and exposure to silicates [(crystalline) silica and asbestos] are highly relevant to the development of (sub-) clinical systemic autoimmune disease.

Conclusion
Parallels were observed between the findings from the animal (this review) and human (epidemiological) studies, arguing that experimental animal models are valuable tools for examining exacerbation or development of autoimmune disease after silicate exposure. However, genetic background and synergism between exposures should be considered in future studies.
Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review
Authors: Zhou Jiayu , Li Qingling , Luo Baihua , Fu Xiaodan , Ou Chunlin , Gao Xiaomei , Xu Zhijie , Feng Deyun , Yang Keda 
Published: January 2022

AbstractBackgroundDesmoplastic small round cell tumor (DSRCT) is a sporadic, highly malignant tumor with a poor prognosis. The abdomen and pelvis have been reported as the primary localization sites. However, to the best of our knowledge, there are few reports on primary DSRCT in the submandibular gland.Case presentationWe report a case of a 26-year-old Chinese man with a mass in the right submandibular gland. Imaging studies showed a hypoechoic mass in the right submandibular region. Intraoperative pathology revealed that the tumor tissue was composed of small round tumor cells and a dense desmoplastic stroma. On immunostaining, the tumor cells showed markers of epithelial, mesenchymal, myogenic, and neural differentiation. TheEWSR1gene rearrangement was detected by fluorescence in situ hybridization. Based on the overall morphological features and immunohistochemical findings, a final diagnosis of DSRCT was made. The patient was treated with comprehensive anti-tumor therapy mainly based on radiotherapy and chemotherapy.ConclusionsDSRCT is an uncommon malignant neoplasm with rare submandibular gland involvement. In this report, we have described a case of DSRCT in the submandibular gland and reviewed the literature on DSRCT over the past 5 years. Considering the importance of differential diagnosis between DSRCT, especially with rare extra-peritoneal involvement, and small round blue cell tumors, a full recognition of the clinicopathological features will help to better diagnose this neoplasm.
Integrative analysis of 3604 GWAS reveals multiple novel cell type-specific regulatory associations
Authors: Breeze Charles E. , Haugen Eric , Reynolds Alex , Teschendorff Andrew , van Dongen Jenny , Lan Qing , Rothman Nathaniel , Bourque Guillaume , Dunham Ian , Beck Stephan , Stamatoyannopoulos John , Franceschini Nora , Berndt Sonja I. 
Published: January 2022

Abstract
Background
Genome-wide association study (GWAS) single nucleotide polymorphisms (SNPs) are known to preferentially co-locate to active regulatory elements in tissues and cell types relevant to disease aetiology. Further characterisation of associated cell type-specific regulation can broaden our understanding of how GWAS signals may contribute to disease risk.

Results
To gain insight into potential functional mechanisms underlying GWAS associations, we developed FORGE2 (https://forge2.altiusinstitute.org/), which is an updated version of the FORGE web tool. FORGE2 uses an expanded atlas of cell type-specific regulatory element annotations, including DNase I hotspots, five histone mark categories and 15 hidden Markov model (HMM) chromatin states, to identify tissue- and cell type-specific signals. An analysis of 3,604 GWAS from the NHGRI-EBI GWAS catalogue yielded at least one significant disease/trait-tissue association for 2,057 GWAS, including > 400 associations specific to epigenomic marks in immune tissues and cell types, > 30 associations specific to heart tissue, and > 60 associations specific to brain tissue, highlighting the key potential of tissue- and cell type-specific regulatory elements. Importantly, we demonstrate that FORGE2 analysis can separate previously observed accessible chromatin enrichments into different chromatin states, such as enhancers or active transcription start sites, providing a greater understanding of underlying regulatory mechanisms. Interestingly, tissue-specific enrichments for repressive chromatin states and histone marks were also detected, suggesting a role for tissue-specific repressed regions in GWAS-mediated disease aetiology.

Conclusion
In summary, we demonstrate that FORGE2 has the potential to uncover previously unreported disease-tissue associations and identify new candidate mechanisms. FORGE2 is a transparent, user-friendly web tool for the integrative analysis of loci discovered from GWAS.
T cell receptor beta germline variability is revealed by inference from repertoire data
Authors: Omer Aviv , Peres Ayelet , Rodriguez Oscar L , Watson Corey T , Lees William , Polak Pazit , Collins Andrew M , Yaari Gur 
Published: January 2022

Abstract
Background
T and B cell receptor (TCR, BCR) repertoires constitute the foundation of adaptive immunity. Adaptive immune receptor repertoire sequencing (AIRR-seq) is a common approach to study immune system dynamics. Understanding the genetic factors influencing the composition and dynamics of these repertoires is of major scientific and clinical importance. The chromosomal loci encoding for the variable regions of TCRs and BCRs are challenging to decipher due to repetitive elements and undocumented structural variants.

Methods
To confront this challenge, AIRR-seq-based methods have recently been developed for B cells, enabling genotype and haplotype inference and discovery of undocumented alleles. However, this approach relies on complete coverage of the receptors’ variable regions, whereas most T cell studies sequence a small fraction of that region. Here, we adapted a B cell pipeline for undocumented alleles, genotype, and haplotype inference for full and partial AIRR-seq TCR data sets. The pipeline also deals with gene assignment ambiguities, which is especially important in the analysis of data sets of partial sequences.

Results
From the full and partial AIRR-seq TCR data sets, we identified 39 undocumented polymorphisms in T cell receptor Beta V (TRBV) and 31 undocumented 5 ′ UTR sequences. A subset of these inferences was also observed using independent genomic approaches. We found that a single nucleotide polymorphism differentiating between the two documented T cell receptor Beta D2 (TRBD2) alleles is strongly associated with dramatic changes in the expressed repertoire.

Conclusions
We reveal a rich picture of germline variability and demonstrate how a single nucleotide polymorphism dramatically affects the composition of the whole repertoire. Our findings provide a basis for annotation of TCR repertoires for future basic and clinical studies.
Advancing child health and educational equity during the COVID-19 pandemic through science and advocacy
Authors: Gur-Arie Rachel , Johnson Sara , Collins Megan 
Published: January 2022

AbstractThe COVID-19 pandemic has underscored the changing role of scientists, clinicians, ethicists, and educators in advocacy as they rapidly translate their findings to inform practice and policy. Critical efforts have been directed towards understanding child well-being, especially with pandemic-related educational disruptions. While school closures were part of early widespread public health measures to curb the spread of COVID-19, they have not been without consequences for all children, and especially for children from disadvantaged backgrounds. In a recent Isr J Health Policy Res perspective, Paltiel and colleagues demonstrate the integral role of academic activism to promote child well-being during the pandemic by highlighting work of the multidisciplinary academic group on children and coronavirus (MACC). In this commentary, we explore parallels to MACC’s work in an international context by describing the efforts of a multidisciplinary team at Johns Hopkins University in Baltimore, Maryland, United States, to aggregate data, conduct analyses, and offer training tools intended to minimize health and educational inequities for children throughout the COVID-19 pandemic. As both MACC and our work collectively demonstrates, multidisciplinary partnerships and public-facing data-driven initiatives are crucial to advocating for children's equitable access to quality health and education. This will likely not be the last pandemic that children experience in their lifetime. As such, efforts should be made to apply the lessons learned during the current pandemic to strengthen multidisciplinary academic-public partnerships which will continue to play a critical role in the future.
Facial and body sexual dimorphism are not interconnected in the Maasai
Authors: Butovskaya Marina L. , Rostovtseva Victoria V. , Mezentseva Anna A. 
Published: January 2022

Abstract
Background
In this paper, we investigate facial sexual dimorphism and its’ association with body dimorphism in Maasai, the traditional seminomadic population of Tanzania. We discuss findings on other human populations and possible factors affecting the developmental processes in Maasai.

Methods
Full-face anthropological photographs were obtained from 305 Maasai (185 men, 120 women) aged 17–90 years. Facial shape was assessed combining geometric morphometrics and classical facial indices. Body parameters were measured directly using precise anthropological instruments.

Results
Sexual dimorphism in Maasai faces was low, sex explained 1.8% of the total shape variance. However, male faces were relatively narrower and vertically prolonged, with slightly wider noses, narrower-set and lower eyebrows, wider mouths, and higher forehead hairline. The most sexually dimorphic regions of the face were the lower jaw and the nose. Facial width-to-height ratio (fWHR), measured in six known variants, revealed no significant sexual dimorphism. The allometric effects on facial traits were mostly related to the face growth, rather than the growth of the whole body (body height). Significant body dimorphism was demonstrated, men being significantly higher, with larger wrist diameter and hand grip strength, and women having higher BMI, hips circumferences, upper arm circumferences, triceps skinfolds. Facial and body sexual dimorphisms were not associated.

Conclusions
Facial sex differences in Maasai are very low, while on the contrary, the body sexual dimorphism is high. There were practically no associations between facial and body measures. These findings are interpreted in the light of trade-offs between environmental, cultural, and sexual selection pressures.
Asymmetry of the male internal reproductive organs in Mantophasmatodea
Authors: Kreuz Josefine , Eberhard Monika J. B. 
Published: January 2022

Abstract
Background
Asymmetries are a widespread phenomenon in otherwise bilaterally symmetric organisms, and investigation of asymmetric structures can help us gather insights into fundamental evolutionary processes such as the selection for morphological novelties caused by behavioural changes. In insects, asymmetric genitalia have evolved in almost every order, and usually it’s the sclerotized parts and most conspicuous male phallic organs that are known to exhibit asymmetries. While external copulatory organs in insects have often been subject to investigations concerning asymmetries and the evolution thereof, internal reproductive structures have received far less attention. Here we describe the internal and external male genitalia in three species of Austrophasmatidae, Mantophasmatodea, using μ-CT imaging and light microscopy. Mantophasmatodea is the most recently discovered insect order, and with 21 species described to date, it is among the smallest insect orders currently known.

Results
We confirm that male heelwalkers exhibit asymmetries in the external genitalia and associated structures, represented by asymmetric phallic lobes and cerci. Moreover, we found an extreme asymmetry within the internal male genitalia: in all adult males investigated (N = 5), the seminal vesicle, a dilatation of the vas deferens, was only developed on the right side of the male while missing on the left side.

Conclusion
The false-male-above mating position exhibited by Mantophasmatodea and especially the long copulation duration of ca. 3 days might select for this unusual absence asymmetry of the left seminal vesicle. If this holds true for all heelwalker species, this absence asymmetry constitutes another autapomorphy for Austrophasmatidae or even the insect order Mantophasmatodea.