bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
Authors: Chen Xinlin , Jiang Yulin , Chen Ruiguo , Qi Qingwei , Zhang Xiujuan , Zhao Sheng , Liu Chaoshi , Wang Weiyun , Li Yuezhen , Sun Guoqiang , Song Jieping , Huang Hui , Cheng Chen , Zhang Jianguang , Cheng Longxian , Liu Juntao 
Published: January 2022

Abstract
Background
Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This study aims to investigate the efficiency of simultaneous CNV-seq and whole-exome sequencing (WES) in the diagnosis of fetal anomaly based on a large Chinese cohort.

Methods
In this cohort study, 1800 pregnant women with singleton fetus in Hubei Province were recruited from 2018 to 2020 for prenatal ultrasonic screening. Those with fetal structural anomalies were transferred to the Maternal and Child Health Hospital of Hubei Province through a referral network in Hubei, China. After multidisciplinary consultation and decision on fetal outcome, products of conception (POC) samples were obtained. Simultaneous CNV-seq and WES was conducted to identify the fetal anomalies that can compress initial DNA and turnaround time of reports.

Results
In total, 959 couples were finally eligible for the enrollment. A total of 227 trios were identified with a causative alteration (CNV or variant), among which 191 (84.14%) were de novo. Double diagnosis of pathogenic CNVs and variants have been identified in 10 fetuses. The diagnostic yield of multisystem anomalies was significantly higher than single system anomalies (32.28% vs. 22.36%, P  = 0.0183). The diagnostic rate of fetuses with consistent intra- and extra-uterine phenotypes (172/684) was significantly higher than the rate of these with inconsistent phenotypes (17/116, P  = 0.0130).

Conclusions
Simultaneous CNV-seq and WES analysis contributed to fetal anomaly diagnosis and played a vital role in elucidating complex anomalies with compound causes.
The role of Exosomal miRNAs in cancer
Authors: Li Chuanyun , Zhou Tong , Chen Jing , Li Rong , Chen Huan , Luo Shumin , Chen Dexi , Cai Cao , Li Weihua 
Published: January 2022

AbstractExosomal miRNAs have attracted much attention due to their critical role in regulating genes and the altered expression of miRNAs in virtually all cancers affecting humans (Sun et al. in Mol Cancer 17(1):14, 2018). Exosomal miRNAs modulate processes that interfere with cancer immunity and microenvironment, and are significantly involved in tumor growth, invasion, metastasis, angiogenesis and drug resistance. Fully investigating the detailed mechanism of miRNAs in the occurrence and development of various cancers could help not only in the treatment of cancers but also in the prevention of malignant diseases. The current review highlighted recently published advances regarding cancer-derived exosomes, e.g., sorting and delivery mechanisms for RNAs. Exosomal miRNAs that modulate cancer cell-to-cell communication, impacting tumor growth, angiogenesis, metastasis and multiple biological features, were discussed. Finally, the potential role of exosomal miRNAs as diagnostic and prognostic molecular markers was summarized, as well as their usefulness in detecting cancer resistance to therapeutic agents.
SNHG15 is a negative regulator of inflammation by mediating TRAF2 ubiquitination in stroke-induced immunosuppression
Authors: Sun Huiling , Li Shuo , Xu Zhaohan , Liu Chengfang , Gong Pengyu , Deng Qiwen , Yan Fuling 
Published: January 2022

AbstractBackgroundAbnormal expression of long noncoding RNAs (lncRNAs) has been reported in the acute stage of acute ischemic stroke (AIS). This study aimed to explore differential lncRNA expression in the subpopulations of peripheral blood mononuclear cells (PBMCs) from AIS patients and further evaluate its underlying mechanisms in stroke-induced immunosuppression.MethodsWe reanalyzed lncRNA microarray data and investigated abnormally expressed lncRNAs in the subpopulations of PBMCs by magnetic cell sorting and real-time quantitative PCR. The potential mechanism of small nucleolar RNA host gene 15 (SNHG15) was explored through in vitro and in vivo approaches.ResultsThe stroke-induced SNHG15 acted as a checkpoint to inhibit peripheral inflammatory responses. Functional studies showed that SNHG15 promoted M2 macrophage polarization. Mechanistically, SNHG15 expression was dysregulated through the Janus kinase (JAK)-signal transducer and activator of transcription 6 (STAT6) signaling pathway. SNHG15, localized in the cytoplasm, interfered with K63-linked ubiquitination of tumor necrosis factor receptor-associated factor 2 and thereby repressed the activation of mitogen-activated protein kinase and nuclear factor kappa-B signaling pathways and prevented the production of proinflammatory cytokines. Administration of an adenovirus targeting SNHG15 improved stroke-induced immunosuppression in mice.ConclusionsThis study identified SNHG15 as a negative regulator of inflammation in stroke-induced immunosuppression, suggesting it as a novel biomarker and therapeutic target in stroke-associated infection.Trial registrationClinicalTrials.gov NCT04175691. Registered November 25, 2019,https://www.clinicaltrials.gov/ct2/show/NCT04175691.
The immunosenescence-related factor DOCK11 is involved in secondary immune responses of B cells
Authors: Sugiyama Yuma , Fujiwara Mitsuhiro , Sakamoto Akihiko , Tsushima Hiromichi , Nishikimi Akihiko , Maruyama Mitsuo 
Published: January 2022

Abstract
Background
Memory B cells are an antigen-experienced B-cell population with the ability to rapidly differentiate into antibody-producing cells by recall responses. We recently found that dedicator of cytokinesis 11 (DOCK11) contributes to the expansion of antigen-specific populations among germinal center B cells upon immunization. In comparison, limited information is available on the contribution of DOCK11 to secondary humoral immune responses.

Results
In this study, effects of the DOCK11 deficiency in B cells were examined on secondary immune responses to protein antigen. The lack of DOCK11 in B cells resulted in the impaired induction of antibody-producing cells upon secondary immunization with protein antigen. DOCK11 was dispensable for the recall responses of antigen-experienced B cells, as demonstrated by the comparable induction of antibody-producing cells in mice given transfer of antigen-experienced B cells with no DOCK11 expression. Instead, the lack of DOCK11 in B cells resulted in the impaired secondary immune responses in a B cell-extrinsic manner, which was recovered by the adoptive transfer of cognate T cells.

Conclusions
We addressed that intrinsic and extrinsic effects of DOCK11 expression in B cells may contribute to secondary humoral immune responses in manner of the induction of cognate T-cell help.
Comparison of the efficacy of intranasal ketamine versus intravenous ketorolac on acute non-traumatic headaches: a randomized double-blind clinical trial
Authors: Sarvari Hooman Rafiei , Baigrezaii Hamidreza , Nazarianpirdosti Mohammad , Meysami Amirhossein , Safari-Faramani Roya 
Published: January 2022

AbstractIntroductionNon - traumatic headaches are one of the most common causes of referral to hospital emergency. This study aimed to compare the efficacy of intranasal ketamine and intravenous ketorolac on acute non-traumatic headaches.MethodsThis randomized and double-blind clinical trial was conducted in 2019. One hundred and forty samples were randomly divided into intranasal ketamine (A) and intravenous ketorolac (B). Group (A) received ketamine intranasal (0.75 mg/kg, max 75 mg), and group B received intravenous ketorolac (30 mg). Headache severity was measured on arrival, 30, 60, and 120 min after intervention with Visual Analogue Scale (VAS). The side effects were recorded an hour after the intervention.ResultThe mean difference of pain intensity 30, 60, and 120 min after the intervention between the two groups was statistically significant (p < 0.001). In the first 30 min, significant changes were observed in the VAS levels of the two groups. These changes were significantly greater in the intranasal ketamine group (p < 0.001). Side effects such as fatigue, dizziness, general discomfort, nausea, increased heart rate, and hypertension were significantly higher in the ketamine group (p < 0.05).ConclusionIntranasal ketamine and intravenous ketorolac both effectively reduced headaches. However, more analgesic effects of intranasal ketamine in a short time can be considered as a selective approach to reducing headaches.Trial registrationIRCT20180108038276N3, Registered 29 September 2019.Ethics committee reference numberIR.KUMS.REC.1398.068.
The m6A methyltransferase METTL3 affects autophagy and progression of nasopharyngeal carcinoma by regulating the stability of lncRNA ZFAS1
Authors: Peng Jiaojiao , Zheng Hong , Liu Feng , Wu Qi , Liu Shixi 
Published: January 2022

Abstract
Background
Nasopharyngeal carcinoma (NPC) is a malignant tumor originating from the epithelial cells of the nasopharyngeal mucosa of the head and neck. The role of long non-coding RNA and RNA methylation in NPC has received increasing attention. Therefore, this study aims to investigate the mechanism of lncRNA ZFAS1 in NPC and its relationship with RNA methylation, providing evidence for targeted therapy of NPC.

Methods
Microarray arrays were used to screen the differentially expressed miRNAs in normal tissues and tumor tissues. QRT-PCR was used to quantify ZFAS1, miR-100-3p, ATG10, autophagy and epithelial-mesenchymal transition related genes. The interactive relationship between ZFAS1 and miR-100-3p was verified using dual-luciferase reporter gene assay and RIP assay. CCK-8, transwell and apoptosis were used to detect the occurrence of tumor cells after different treatments. The m6A modification test is used to verify the effect of METTL3 on ZFAS1. BALB/c mice and BALB/c nude mice are used to detect the effects of different treatments on tumor growth and immune escape in vivo.

Results
ZFAS1 is upregulated in tumor tissues and NPC cells. N (6)-methyladenosine (m6A) is highly enriched in ZFAS1 and enhances its RNA stability. ZFAS1 is used as an oncogenic lncRNA, which can promote NPC cell proliferation, migration and tumor growth. In terms of mechanism, ZFAS1 up-regulates the expression of ATG10 by competitively adsorbing miR-100-3p and regulates the level of autophagy by inhibiting the PI3K/Akt signaling pathway to promote the proliferation and migration of NPC cells.

Conclusion
In short, our study verified the cancer-promoting effect of ZFAS1 in NPC and explained part of the reason for its upregulation. In addition, we confirmed that ZFAS1 can regulate the autophagy level of NPC cells through the PI3K/AKT pathway through miR-100-3p/ATG10 to affect tumor progression.
Impact of telelactation services on breastfeeding outcomes among Black and Latinx parents: protocol for the Tele-MILC randomized controlled trial
Authors: Uscher-Pines Lori , Demirci Jill , Waymouth Molly , Lawrence Rebecca , Parks Amanda , Mehrotra Ateev , Ray Kristin , DeYoreo Maria , Kapinos Kandice 
Published: January 2022

Abstract
Background
Breastfeeding offers many medical and neurodevelopmental advantages for birthing parents and infants; however, the majority of parents stop breastfeeding before it is recommended. Professional lactation support by the International Board Certified Lactation Consultants (IBCLCs) increases breastfeeding rates; however, many communities lack access to IBCLCs. Black and Latinx parents have lower breastfeeding rates, and limited access to professional lactation support may contribute to this disparity. Virtual “telelactation” consults that use two-way video have the potential to increase access to IBCLCs among disadvantaged populations. We present a protocol for the digital Tele-MILC trial, which uses mixed methods to evaluate the impact of telelactation services on breastfeeding outcomes. The objective of this pragmatic, parallel design randomized controlled trial is to assess the impact of telelactation on breastfeeding duration and exclusivity and explore how acceptability of and experiences with telelactation vary across Latinx, Black, and non-Black and non-Latinx parents to guide future improvement of these services.

Methods
2400 primiparous, pregnant individuals age > 18 who intend to breastfeed and live in the USA underserved by IBCLCs will be recruited. Recruitment will occur via Ovia, a pregnancy tracker mobile phone application (app) used by over one million pregnant individuals in the USA annually. Participants will be randomized to (1) on-demand telelactation video calls on personal devices or (2) ebook on infant care/usual care. Breastfeeding outcomes will be captured via surveys and interviews and compared across racial and ethnic groups. This study will track participants for 8 months (including 6 months postpartum). Primary outcomes include breastfeeding duration and breastfeeding exclusivity. We will quantify differences in these outcomes across racial and ethnic groups. Both intention-to-treat and as-treated (using instrumental variable methods) analyses will be performed. This study will also generate qualitative data on the experiences of different subgroups of parents with the telelactation intervention, including barriers to use, satisfaction, and strengths and limitations of this delivery model.

Discussion
This is the first randomized study evaluating the impact of telelactation on breastfeeding outcomes. It will inform the design and implementation of future digital trials among pregnant and postpartum people, including Black and Latinx populations which are historically underrepresented in clinical trials.

Trial registration
ClinicalTrials.gov NCT04856163. Registered on April 23, 2021
Deltamethrin interacts with Culex quinquefasciatus odorant-binding protein: a novel potential resistance mechanism
Authors: Shen Rui-xin , Wang Yi-ting , Wu Jia-hong , Zhang Ning , Zhang Heng-duan , Xing Dan , Chen Yan , Li Chun-xiao , Zhao Tong-yan 
Published: January 2022

Abstract
Background
Odorant-binding proteins (OBPs) play important roles in many physiological processes of mosquitoes. Previous high-throughput sequencing studies have revealed that some OBPs of Culex quinquefasciatus might be involved in the development of resistance to insecticides.

Methods
Based on the results of sequencing analyses, the OBP28 gene was selected for evaluation in this study. Three laboratory strains of Cx. quinquefasciatus [susceptible strain (SS), deltamethrin-resistant strain 1 (HN) and deltamethrin-resistant strain 2 (RR)] were first examined by using the Centers for Disease Control and Prevention bottle bioassay, after which the expression level of the OBP28 gene in the susceptible and deltamethrin-resistant strains was determined by real-time quantitative polymerase chain reaction. The OBP28 gene in deltamethrin-resistant strain RR was silenced using RNA interference technology. The expression level of OBP28 and the resistance level were tested in the silenced strain and control strain after microinjection of double-stranded RNA for a 48-h interference period. Four field-collected strains (henceforth ‘field strains’) of Cx. quinquefasciatus were also examined for their resistance to deltamethrin and levels of OBP28 expression. Finally, a correlation analysis between deltamethrin resistance and gene expression was carried out for all seven strains, i.e. the four field strains and the three laboratory strains.

Results
In the bioassay, the mortality of SS, HN and RR was 100%, 21.33% and 1.67%, respectively. The relative expression levels of OBP28 in strains HN and RR were 6.30- and 6.86-fold higher, respectively, than that of strain SS. After silencing of the OBP28 gene, the mortality of strain RR was 72.20% and that of the control strain 26.32%. The mortality of strain RR increased significantly after interference compared to that of the control strain. There was a negative correlation between OBP28 gene expression and mortality in adult mosquitoes after exposure to deltamethrin.

Conclusions
To our knowledge, this study shows for the first time a correlation between the expression of a gene coding for OBP and insecticide resistance in mosquitoes. The potential resistance mechanism that was elucidated provides a new target gene for the surveillance of resistance in mosquitoes.

Graphical abstract
Accelerometer-based prediction of ground reaction force in head-out water exercise with different exercise intensity countermovement jump
Authors: Chien Kuei-Yu , Chang Wei-Gang , Chen Wan-Chin , Liou Rong-Jun 
Published: January 2022

Abstract
Background
Water jumping exercise is an alternative method to achieve maintenance of bone health and reduce exercise injuries. Clarifying the ground reaction force (GRF) of moderate and high cardiopulmonary exercise intensities for jumping movements can help quantify the impact force during different exercise intensities. Accelerometers have been explored for measuring skeletal mechanical loading by estimating the GRFs. Predictive regression equations for GRF using ACC on land have already been developed and performed outside laboratory settings, whereas a predictive regression equation for GRF in water exercises is not yet established. The purpose of this study was to determine the best accelerometer wear-position for three exercise intensities and develop and validate the ground reaction force (GRF) prediction equation.

Methods
Twelve healthy women (23.6 ± 1.83 years, 158.2 ± 5.33 cm, 53.1 ± 7.50 kg) were recruited as participants. Triaxial accelerometers were affixed 3 cm above the medial malleolus of the tibia, fifth lumbar vertebra, and seventh cervical vertebra (C7). The countermovement jump (CMJ) cadence started at 80 beats/min and increased by 5 beats per 20 s to reach 50%, 65%, and 80% heart rate reserves, and then participants jumped five more times. One-way repeated analysis of variance was used to determine acceleration differences among wear-positions and exercise intensities. Pearson’s correlation was used to determine the correlation between the acceleration and GRF per body weight on land (GRFVLBW). Backward regression analysis was used to generate GRFVLBW prediction equations from full models with C7 acceleration (C7 ACC), age, percentage of water deep divided by body height (PWDH), and bodyweight as predictors. Paired t-test was used to determine GRFVLBW differences between values from the prediction equation and force plate measurement during validation. Lin’s CCC and Bland–Altman plots were used to determine the agreement between the predicted and force plate-measured GRFVLBW.

Results
The raw full profile data for the resultant acceleration showed that the acceleration curve of C7 was similar to that of GRFv. The predicted formula was − 1.712 + 0.658 * C7ACC + 0.016 * PWDH + 0.008 * age + 0.003*weight. Lin’s CCC score was 0.7453, with bias of 0.369%.

Conclusion
The resultant acceleration measured at C7 was identified as the valid estimated GRFVLBW during CMJ in water.
A survey of elite and pre-elite athletes’ perceptions of key support, lifestyle and performance factors
Authors: Burns Lauren , Weissensteiner Juanita R. , Cohen Marc , Bird Stephen R. 
Published: January 2022

Abstract
Background
Success at the elite level in sport is often attributed to physical prowess, technical skill, and mental attitude. However, underpinning these factors are various lifestyle, support and social factors that may contribute to successful performance, but which may be absent from athlete development programs.

Methods
An online survey was used to investigate athlete perceptions of lifestyle practices and support services amongst 135 Australian Olympic, Paralympic, National, and state-level athletes across 25 Olympic sports.

Results
International athletes perceived psychological skills and attributes, along with strong interpersonal relationships as vital to their success, and they also rated ‘Recovery practices’ as very important and made extensive use of available support services. These athletes also indicated that they would have liked access to these services earlier in their careers, a wish that was reiterated by the sub-elite athletes. Furthermore, athletes wanted greater knowledge, mentoring, and autonomy earlier in their careers, and the importance of ‘athlete wellbeing’ as well as ‘athletic performance’ was evident in a number of contexts.

Conclusions
An athlete development system into which these are included may assist in generating an environment that facilitates athlete success, repeated podium performances, retain athletes in high-performance sport for longer, encourage human-flourishing, wellbeing and smooth transitions for retiring athletes.
Effects of consecutive days of matchplay on maximal hip abductor and adductor strength in female field hockey players
Authors: Sánchez-Migallón Violeta , López-Samanes Álvaro , Del Coso Juan , Navandar Archit , Aagaard Per , Moreno-Pérez Víctor 
Published: January 2022

Abstract
Background
The purpose of this study was to examine the effects of two competitive field hockey matches, played on consecutive days, on maximal isometric hip adductor and abductor strength, wellness and fatigue.

Methods
Fourteen professional female field hockey players (age: 20.4 ± 5.4 years; body mass: 60.7 ± 7.2 kg; height: 167.0 ± 1.0 cm) volunteered to participate in this investigation. Maximal isometric hip adductor and abductor strength were obtained before (pre-match 1) and after the first match (post-match 1), after the second match (post-match 2), and 48 h after the second match. Locomotion patterns during the matches were obtained with portable Global Positioning System (GPS) and perceived exertion (RPE) was assessed after each match. In addition, Wellness Questionnaire (5-WQ) and the Total Quality Recovery Scale (TQR) were employed before the matches and 48 h after the second match.

Results
For the non-dominant limb, the maximal isometric hip adductor and abductor strength were lower after post-match 2 when compared to pre-match 1 (p = 0.011). Hip abductor strength in the non-dominant limb remained reduced 48 h after post-match 2 (p < 0.001). There were no differences in the total distance covered when comparing match 1 and match 2. Players reported more acute fatigue (5-WQ, p = 0.009) and increased muscle soreness on pre-match 2 compared to pre-match 1 (p = 0.015), while fatigue returned to pre-competition levels 48 h after post-match 2 (p = 0.027). No changes were observed in the TQR.

Conclusion
The assessment of maximal adductor and abductor strength before and after competitive matches, in addition to evaluating self-perceived fatigue by a wellness questionnaire can help to identify field hockey players with excessive fatigue responses during tournaments with a congested match program.