bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reproductive outcome of hysteroscopic metroplasty for women with T-shaped uterus: a retrospective study
Authors: Zhang Yuxin , Zhu Yiping , Ge Beilei , Sui Mengsong , Zheng Zhenzhen , Sun Jing 
Published: March 2022

Abstract
Background
T-shaped uterus is a Müllerian malformation with unapparent clinical manifestations. Intrauterine adhesion and tuberculosis may lead to T-shaped uterus, too. Hysteroscopic metroplasty is a treatment option for T-shaped uterus, while the postoperative reproductive outcomes have not been thoroughly investigated. The aim of this study was to determine the reproductive outcome in Chinese women with T-shaped uterus who had hysteroscopic metroplasty with cold scissors.

Methods
This retrospective cohort study was conducted in the reproductive surgery unit of a university-affiliated hospital. One hundred and eleven patients with T-shaped uterus who underwent hysteroscopic metroplasty from Jan. 2017 to Sept. 2019 were followed-up by telephone in Apr. 2021. All patients received hysteroscopic metroplasty using microcissors, followed by estrogen-progesterone sequential treatment, with or without intrauterine device (IUD) implantation. According to whether they had had history of intrauterine operation, patients were divided into congenital group and acquired group. The main outcome measure was postoperative live birth rate. χ2 test and t test were used for comparison between groups. Cochran-Mantel–Haenszel test were used for stratified analysis. P < 0.05 was considered statistically significant.

Results
One hundred and eleven patients were included in total, with 46 in congenital group and 65 in acquired group. After hysteroscopic metroplasty, in the congenital group, the pregnancy rate increased from 28.3% to 87.0% (P < 0.001) and the live birth rate increased from 23.1% to 79.5% (P = 0.001); in the acquired group, the pregnancy rate slightly dropped from 98.5% to 72.3% (P < 0.001) while the live birth rate increased from 20.8% to 74.5% (P < 0.001). No statistically significant difference was observed in postoperative reproductive outcome indicators between the two subgroups except mode of conception.

Conclusions
For both groups, hysteroscopic metroplasty may improve reproductive outcomes for patients with T-shaped uterus.
Designing a respectful maternity care guideline: a multiphase study
Authors: Hajizadeh Khadije , Vaezi Maryam , Meedya Shahla , Charandabi Sakineh Mohammad Alizadeh , Mirghafourvand Mojgan 
Published: March 2022

Abstract
Background
There is no comprehensive guideline for respectful maternity care (RMC) promotion in Iran. This study aimed to design a RMC guideline based on a multiphase study.

Methods
In this multiphase mixed-methods study, recommendations were made for RMC promotion through the data obtained from Phase I (i.e., the quantitative section with a cross-sectional design), Phase II (i.e., the qualitative section with a content analysis method), and Phase III (i.e., focus group discussions with birth attendants as well as opinions of the specialized panel through the Delphi technique). The composed recommendations were then analyzed and finalized by relevant specialists in terms of execution capacity, approvability, and cost-effectiveness within the current context of Iran. Eventually, the resultant guideline were evaluated and approved by two members of the research team specializing in the research area in accordance with the Appraisal of Guideline for Research and Evaluation (AGREE).

Results
The results of this multiphase study led to 80 recommendations for RMC promotion. The recommendations were classified as eight areas called recommendations for the pregnancy period, recommendations for the labor period and delivery, recommendations for the neonatal period, occupational recommendations, supervision recommendations, national policy recommendations, recommendations for training students and staff, and general public recommendations.

Discussion
Based on the outcomes of disrespect and abuse, it is recommended to provide comprehensive guideline for policymakers and planners to formulate plans through the RMC promotion approach. Healthcare service policymakers can use this guideline to design some interventions to meet women’s financial, psychological, and legal needs.
Non-coding RNAs in the regulation of blood–brain barrier functions in central nervous system disorders
Authors: Sun Ping , Hamblin Milton H. , Yin Ke-Jie 
Published: March 2022

AbstractThe blood–brain barrier (BBB) is an essential component of the neurovascular unit that controls the exchanges of various biological substances between the blood and the brain. BBB damage is a common feature of different central nervous systems (CNS) disorders and plays a vital role in the pathogenesis of the diseases. Non-coding RNAs (ncRNAs), such as microRNAs (miRNAs), long non-coding RNA (lncRNAs), and circular RNAs (circRNAs), are important regulatory RNA molecules that are involved in almost all cellular processes in normal development and various diseases, including CNS diseases. Cumulative evidences have demonstrated ncRNA regulation of BBB functions in different CNS diseases. In this review, we have summarized the miRNAs, lncRNAs, and circRNAs that can be served as diagnostic and prognostic biomarkers for BBB injuries, and demonstrated the involvement and underlying mechanisms of ncRNAs in modulating BBB structure and function in various CNS diseases, including ischemic stroke, hemorrhagic stroke, traumatic brain injury (TBI), spinal cord injury (SCI), multiple sclerosis (MS), Alzheimer's disease (AD), vascular cognitive impairment and dementia (VCID), brain tumors, brain infections, diabetes, sepsis-associated encephalopathy (SAE), and others. We have also discussed the pharmaceutical drugs that can regulate BBB functions via ncRNAs-related signaling cascades in CNS disorders, along with the challenges, perspective, and therapeutic potential of ncRNA regulation of BBB functions in CNS diseases.
Primary lung hyalinizing clear cell carcinoma: a diagnostic challenge in biopsy
Authors: Zhang Yanling , Han Wen , Zhou Jun , Yong Xiang 
Published: March 2022

Abstract
Introduction
Hyalinizing clear cell carcinomas (HCCCs) are rare, low-grade, malignant tumors. They most commonly involve the minor salivary glands of the head and neck. HCCC that occurs in uncommon locations and examining samples from small biopsy pose a diagnostic challenge for most pathologists.

Case presentation
We herein report a primary pulmonary HCCC diagnosed by small biopsy and summarize its histologic, immunophenotypic, and molecular features along with a review of 11 previously reported cases to emphasize the potential diagnostic pitfalls.

Conclusions
Small biopsy diagnosis of primary pulmonary HCCC is challenging. A collection of mimics needed to be ruled out. Awareness of the key morphologic features of pulmonary HCCC combined with essential immunohistochemistry and molecular tests contributes to the correct diagnosis.
Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis
Authors: Pfaff Abigail L. , Bubb Vivien J. , Quinn John P. , Koks Sulev 
Published: March 2022

AbstractThe activation and dysregulation of retrotransposons has been identified in the CNS of individuals with the fatal neurodegenerative disorder Amyotrophic lateral sclerosis (ALS). This includes elements from multiple different families and subfamilies of retrotransposons, however there is limited knowledge of the specific loci from which this expression occurs in ALS. The long interspersed element-1 (L1) is the only autonomous retrotransposon in the human genome and members of this family of elements maintain the ability to mobilise. Despite L1s contributing to 17% of the human genome only 80–100 L1s encode the required proteins for mobilisation and are retrotransposition competent. Identifying the specific loci from which L1 expression occurs will inform on the potential functional consequences of their expression, such as the potential for somatic retrotransposition or DNA damage caused by the endonuclease activity of the ORF2 protein of the L1. Here we characterised L1 loci expression using the L1EM tool (https://github.com/FenyoLab/L1EM) in RNA sequencing data from 518 samples across four tissues (motor cortex, frontal cortex, cerebellum and cervical spinal cord) in the Target ALS cohort obtained from the New York Genome Center. There was a significant reduction in total intact L1 expression (those that encode functional proteins) in two brain regions of individuals with ALS compared to controls and clustering of the ALS brain regions occurred based on their intact L1 expression profile. Although overall the levels of L1 expression were reduced in ALS/ALS with other neurological disorder (ND) there were individuals in which L1s were expressed at much higher levels than the rest of the ALS/ALSND cohort. Expressed L1 loci were more frequently located in introns compared to those not expressed and the level of L1 expression positively correlated with the expression of the gene in which it was located. Significant differences were observed in the expression profiles of L1s in ALS and specific features of these elements, such as location in the genome and whether or not they are intact, were significantly associated with those that were expressed in the cohort.
Oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome
Authors: Takemoto Tomoya , Baba Masayuki , Yokoyama Kazumasa , Kitagawa Kohei , Nagayasu Kazuki , Ago Yukio , Seiriki Kaoru , Hayata-Takano Atsuko , Kasai Atsushi , Mori Daisuke , Ozaki Norio , Takuma Kazuhiro , Hashimoto Ryota , Hashimoto Hitoshi , Nakazawa Takanobu 
Published: March 2022

AbstractAutism spectrum disorder (ASD) is a neurodevelopmental condition characterized by specific social symptoms, restricted interests, stereotyped repetitive behaviors, and delayed language development. The 3q29 microdeletion (3q29del), a recurrent copy number variant, confers a high risk for ASD and schizophrenia, and serves as an important pathological model for investigating the molecular pathogenesis of a large number of neurodevelopmental and psychiatric conditions. Recently, mouse models carrying a deletion of the chromosomal region corresponding to the human 3q29 region (Df/+ mice) were generated and demonstrated neurodevelopmental and psychiatric conditions associated behavioral abnormalities, pointing to the relevance of Df/+ mice as a model for these conditions with high construct and face validity. Currently, the molecular pathogenesis of these behavioral phenotypes in Df/+ mice remains unclear. The oxytocin (OXT) system plays a central role in social behavior across species and has a potential role in ASD. In this study, to elucidate the molecular mechanisms behind impaired social behavior in Df/+ mice, we investigated the possible involvement of OXT signaling in impaired social behavior in Df/+ mice. We demonstrated that OXT administration restored the impaired social behavior in Df/+ mice. We also demonstrated that the number of OXT-positive cells in the paraventricular nucleus (PVN) was significantly lower in Df/+ mice than in wild-type (WT) littermates. Consistent with this, the level of OXT peptide in the cerebral cortex of Df/+ mice was lower than in WT littermates. Our study may provide important insights into the molecular pathophysiological basis of neurodevelopmental and psychiatric conditions, including ASD.
L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report
Authors: Rovelli Valentina , Zuvadelli Juri , Piotto Marta , Scopari Andrea , Dionigi Alice Re , Ercoli Vittoria , Paci Sabrina , Cefalo Graziella , Salvatici Elisabetta , Banderali Giuseppe 
Published: March 2022

Abstract
Background
Pompe disease (PD) is a disorder of glycogen metabolism conditioning a progressive and life conditioning myopathy. Enzyme replacement therapy (ERT) is currently the best treatment option for PD, but is not resolutive. While other potential therapeutic approaches have been reported before, these have never been tried as co- treatments. L-alanine oral supplementation (LAOS) has been proven to reduce muscle breakdown: we hereby report the first case of supplementation on a PD patient on ERT.

Case presentation
F. is a 9 y.o. infantile onset Pompe Disease (IOPD) girl ERT-treated since age 1 developing a progressive myopathy. We started her on LAOS and performed assessments at baseline, 6 and 9 months. At baseline, F.’s weight, height and BMI were within normal ranges, while body composition showed low fat mass -FM and high resting energy expenditure—REE levels. After LAOS, a progressive FM increase and REE reduction could be observed both at 6 and 9 months.

Conclusions
ERT is not curative for PD patients thus additional treatments could be considered to improve outcomes. Our patient showed physical signs of inability to accumulate energy when exclusively on ERT, while FM increase and REE reduction occurred when supplemented with LAOS, likely reflecting anabolic pathways’ implementation. This is the first case reporting potential LAOS benefits in PD-on ERT patients. Longitudinal case control studies are yet needed to evaluate possible efficacy of combined LAOS And ERT treatment in PD patients.
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
Authors: Venner Eric , Muzny Donna , Smith Joshua D. , Walker Kimberly , Neben Cynthia L. , Lockwood Christina M. , Empey Phillip E. , Metcalf Ginger A. , Kachulis Chris ,   The All of Us Research Program Regulatory Working Group, Mian Sana , Musick Anjene , Rehm Heidi L. , Harrison Steven , Gabriel Stacey , Gibbs Richard A. , Nickerson Deborah , Zhou Alicia Y. , Doheny Kimberly , Ozenberger Bradley , Topper Scott E. , Lennon Niall J. 
Published: March 2022

Abstract
Background
The All of Us Research Program (AoURP, “the program”) is an initiative, sponsored by the National Institutes of Health (NIH), that aims to enroll one million people (or more) across the USA. Through repeated engagement of participants, a research resource is being created to enable a variety of future observational and interventional studies. The program has also committed to genomic data generation and returning important health-related information to participants.

Methods
Whole-genome sequencing (WGS), variant calling processes, data interpretation, and return-of-results procedures had to be created and receive an Investigational Device Exemption (IDE) from the United States Food and Drug Administration (FDA). The performance of the entire workflow was assessed through the largest known cross-center, WGS-based, validation activity that was refined iteratively through interactions with the FDA over many months.

Results
The accuracy and precision of the WGS process as a device for the return of certain health-related genomic results was determined to be sufficient, and an IDE was granted.

Conclusions
We present here both the process of navigating the IDE application process with the FDA and the results of the validation study as a guide to future projects which may need to follow a similar path. Changes to the program in the future will be covered in supplementary submissions to the IDE and will support additional variant classes, sample types, and any expansion to the reportable regions.
Interaction of bacterial genera associated with therapeutic response to immune checkpoint PD-1 blockade in a United States cohort
Authors: Newsome Rachel C. , Gharaibeh Raad Z. , Pierce Christine M. , da Silva Wildson Vieira , Paul Shirlene , Hogue Stephanie R. , Yu Qin , Antonia Scott , Conejo-Garcia Jose R. , Robinson Lary A. , Jobin Christian 
Published: March 2022

AbstractBackgroundRecent studies show that human gut microbial composition can determine whether a patient is a responder or non-responder to immunotherapy but have not identified a common microbial signal shared by responding patients. The functional relationship between immunity, intestinal microbiota, and NSCLC response to immune checkpoint inhibitor/inhibition (ICI) in an American cohort remains unexplored.MethodsRNAlater-preserved fecal samples were collected from 65 pre-treatment (baseline) and post-treatment stage III/IV NSCLC patients undergoing ICI therapy, categorized as responders or non-responders according to RECIST criteria. Pooled and individual responder and non-responder microbiota were transplanted into a gnotobiotic mouse model of lung cancer and treated with ICIs. 16S rDNA and RNA sequencing was performed on patient fecal samples, 16S rDNA sequencing on mouse fecal samples, and flow cytometric analysis on mouse tumor tissue.ResultsResponder patients have both a different microbial community structure than non-responders (P= 0.004) and a different bacterial transcriptome (PC2 = 0.03) at baseline. Taxa significantly enriched in responders include amplicon sequence variants (ASVs) belonging to the generaRuminococcus,Akkermansia, andFaecalibacterium. Pooled and individual responder microbiota transplantation into gnotobiotic mice decreased tumor growth compared to non-responder colonized mice following ICI (P= 0.023,P= 0.019,P= 0.008, respectively). Responder tumors showed an increased anti-tumor cellular phenotype following ICI treatment. Responder mice are enriched with ASVs belonging to the generaBacteroides,Blautia,Akkermansia, andFaecalibacterium. Overlapping taxa mapping between human and mouse cohorts correlated with tumor size and weight revealed a network highlighting responder-associated ASVs belonging to the generaColidextribacter,Frisingicoccus,Marvinbryantia, andBlautiawhich have not yet been reported.ConclusionsThe role of isolate-specific function and bacterial gene expression in gut microbial-driven responsiveness to ICI has been underappreciated. This work supports further investigation using isolate-driven models to characterize the mechanisms underlying this phenomenon.
Urinary galectin-3 binding protein (G3BP) as a biomarker for disease activity and renal pathology characteristics in lupus nephritis
Authors: Ding Huihua , Shen Yiwei , Lin Cheng , Qin Ling , He Shijun , Dai Min , Okitsu Shinji L. , DeMartino Julie A. , Guo Qiang , Shen Nan 
Published: March 2022

Abstract
Objective
There is an urgent need to identify novel biomarkers of LN to reflect renal histological changes. This study aims to investigate urinary G3BP levels in LN patients and their association with renal disease activity both clinically and pathologically.

Methods
This is a cross-sectional study. A total of 119 lupus nephritis patients were recruited. Thirty patients with chronic kidney diseases (CKD) and 27 healthy volunteers were also recruited as controls. Urinary G3BP was tested by ELISA. Renal histopathology was reviewed by an experienced renal pathologist. Other clinical variables were collected through chart review.

Results
The levels of uG3BP were significantly increased in active LN patients compared to those in inactive LN (p<0.001), CKD patients (p=0.01), and healthy controls (p<0.001). ROC analysis indicated a good discrimination ability of uG3BP to differentiate active LN from CKD patients (AUC=0.7), inactive LN (AUC=0.76), or healthy controls (AUC=0.87). uG3BP was positively correlated with SLEDAI (ρ=0.352, p<0.001), rSLEDAI (ρ=0.302, p<0.001), and SLICC RAS (ρ=0.465, p<0.001), indicating a role as a biomarker of disease activity. It also correlated with clinical parameters, including 24-h urine protein, ESR, and serum C3 levels. In patients with 24-h urine protein > 3.0 g/24h, uG3BP levels were higher in proliferative LN than in membranous LN (p=0.04). They could discriminate the two pathogenic types of LN (AUC=0.72), and they also positively correlated with AI (ρ=0.389, p=0.008) and scores of hyaline deposits (ρ=0.418, p=0.006). While in patients with 24-h urine protein ≤ 3.0 g/24h, uG3BP levels were not significantly different between proliferative and membranous LN, and there was no apparent relationship between uG3BP levels with AI or with scores of hyaline deposits, but they correlated positively with scores of cellular/fibrocellular crescents (ρ=0.328, p=0.04).

Conclusion
uG3BP is a non-invasive biomarker for clinically and histologically reflecting disease activity. It is associated with active histological changes and can be used as a surrogate biomarker when the renal biopsy is impractical.
Musculoskeletal pain as the effect of internal compensatory mechanisms on structural and functional changes in body build and posture in elite Polish sitting volleyball players
Authors: Zwierzchowska Anna , Gawel Eliza , Celebanska Diana , Rosolek Barbara 
Published: March 2022

Abstract
Background
With the dynamic development of professional Paralympic sport, the prevalence of musculoskeletal pain and structural and/or functional disturbances in Para athletes constantly increases. The aim of the study was to evaluate the impact of internal compensatory mechanisms on selected aspects of body structure and function in elite sitting volleyball players.

Methods
The study included eighteen elite sitting volleyball players (male; n = 12, female; n = 6, age; 36.0 ± 6.1, body mass; 76.6 ± 16.1, body height; 179.3 ± 0.1) from the Polish national team. Retrospective and direct participatory observation methods were used in the study. NMQ-7 was used to assess the current prevalence and location of musculoskeletal pain. The evaluation of spinal curvature and pelvic inclination was performed using a non-invasive Medi Mouse method (Idiag M360) in three different trunk positions. All statistical analyses were performed using Statistica 13.3 software package.

Results
Lumbar hypolordosis was a predominant sagittal deviation of spinal curvature (n = 15;83%). Low back pain (LBP) and neck pain were the most frequent complaints (50%). Statistically significant differences in the values of thoracic kyphosis angle, pelvic inclination, and spine length (SL) in sagittal standing flexion and extension were found. However, there was no statistically significant difference in sagittal standing flexion for the lumbar lordosis angle with a simultaneous significant change in pelvic inclination (66.9°). Moreover, a tendency to interpenetration of relationships between variables that characterize (a) body structure and (b) function of the spine and musculoskeletal pain were observed. Shoulder pain correlated with SL (R = 0.6; p < 0.05) and body height (R = 0.5; p < 0.05). Pelvic inclination correlated with shoulder pain, LBP (R = 0.5; p < 0.05/R = 0.6; p < 0.01), and body trunk fat mass (R = − 0.6; p < 0.05).

Conclusions
Trunk fat mass induces internal compensatory mechanisms to maintain optimal pelvic inclination and sagittal spinal balance. Furthermore, the level of pelvic mobility may determine musculoskeletal pain in Para athletes with lower limb impairment.