bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a Goat Intersexuality-Associated Novel Variant Through Genome-Wide Resequencing and Hi-C
Authors: E Guang-Xin , Zhou Dong-Ke , Zheng Zhu-Qing , Yang Bai-Gao , Li Xiang-Long , Li Lan-Hui , Zhou Rong-Yan , Nai Wen-Hui , Jiang Xun-Ping , Zhang Jia-Hua , Hong Qiong-Hua , Ma Yue-Hui , Chu Ming-Xing , Gao Hui-Jiang , Zhao Yong-Ju , Duan Xing-Hai , He Yong-Meng , Na Ri-Su , Han Yan-Guo , Zeng Yan , Jiang Yu , Huang Yong-Fu 
Published: February 2021

Background:Polled intersex syndrome (PIS) leads to reproductive disorders in goats and exerts a heavy influence on goat breeding. Since 2001, the core variant of an 11.7 kb deletion at ~129 Mb on chromosome 1 (CHI1) has been widely used as a genetic diagnostic criterion. In 2020, a ~0.48 Mb insertion within the PIS deletion was identified by sequencing in XX intersex goats. However, the suitability of this variation for the diagnosis of intersex goats worldwide and its further molecular genetic mechanism need to be clarified.Results:The whole-genome selective sweep of intersex goats from China was performed with whole-genome next-generation sequencing technology for large sample populations and a case–control study on interbreeds. A series of candidate genes related to the goat intersexuality phenotype were found. We further confirmed that a ~0.48 Mb duplicated fragment (includingERGandKCNJ15) downstream of the ~20 Mb PIS region was reversely inserted into the PIS locus in intersex Chinese goats and was consistent with that in European Saanen and Valais black-necked goats. High-throughput chromosome conformation capture (Hi-C) technology was then used to compare the 3D structures of the PIS variant neighborhood in CHI1 between intersex and non-intersex goats. A newly found structure was validated as an intrachromosomal rearrangement. This inserted duplication changed the original spatial structure of goat CHI1 and caused the appearance of several specific loop structures in the adjacent ~20 kb downstream region ofFOXL2.Conclusions:Results suggested that the novel complex PIS variant genome was sufficient as a broad-spectrum clinical diagnostic marker of XX intersexuality in goats from Europe and China. A series of private dense loop structures caused by segment insertion into the PIS deletion might affect the expression ofFOXL2or other neighboring novel candidate genes. However, these structures require further in-depth molecular biological experimental verification. In general, this study provided new insights for future research on the molecular genetic mechanism underlying female-to-male sex reversal in goats.
Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome
Authors: Shi Wei-Hui , Ye Mu-Jin , Chen Song-Chang , Zhang Jun-Yu , Chen Yi-Yao , Zhou Zhi-Yang , Qin Ning-Xin , Zhou Xuan-You , Xu Nai-Xin , Jiang Zi-Ru , Lin Jing , Huang He-Feng , Xu Chen-Ming 
Published: February 2021

BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in COL4A5 at Xq22 accounts for 80–85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling.MethodsPrenatal diagnoses were performed by amplifying targeted regions of COL4A5. Targeted next-generation sequencing (NGS)-based haplotype analysis or karyomapping was performed in two patients. Pregnancy outcomes in the three patients were collected and analyzed. Published Alport syndrome cases were searched in Pubmed and Embase.ResultsPrenatal diagnoses in two cases showed one fetus harbored the same pathogenic mutation as the proband and the other was healthy. The couple with an affected fetus and the patient with a family history of Alport syndrome chose to take the preimplantation genetic testing (PGT) procedure. One unaffected embryo was transferred to the uterus, and a singleton pregnancy was achieved, respectively. Two patients presented non-nephrotic range proteinuria (&lt;3 g/24 h) during pregnancy and the three cases all delivered at full-term. However, published Alport cases with chronic kidney disease or proteinuria during pregnancy were came with a high rate (75%) of adverse maternal and fetal outcomes.ConclusionThe PGT procedure performed in this study was proven to be practicable and might be expanded to be applied in other monogenic diseases. Moderate or severe renal impairments in Alport syndrome were strongly associated with adverse maternal and fetal outcomes, and baseline proteinuria was a potential predictor for pregnancy outcomes of Alport syndrome as other kidney diseases.
A Comparative Clinical Study of a Novel Pre-colonoscopy Bowel Capsule Preparation Against Two Commercially Available Liquid Preparations
Authors: Kingston-Smith Harriet , Gunaratne Anoja W. , Saxon John , Ramrakha Sanjay , Dawson Marie Vic M. , Clancy Annabel , Wettstein Antony , Borody Thomas J. 
Published: February 2021

Background and Aims: Colonoscopy surveillance depends on effective bowel preparation. Inadequate bowel preparation can lead to inaccurate clinical diagnosis, insufficient visualization of the colon and increased risk of missed diagnosis. This study aimed to compare the efficacy and safety of a novel Capsule Bowel Preparation (RitePrep), high-volume (2L) polyethylene glycol electrolyte solution (MoviPrep®) and low-volume (1L) polyethylene glycol electrolyte solution (Plenvu™).Methods: Patients (n = 120) were divided into three groups and were administered either RitePrep, MoviPrep® or Plenvu™ as a pre-colonoscopy bowel preparation followed by a colonoscopy at a single center. Validated Boston Bowel Preparation Score (BBPS) and bubble score were used to evaluate bowel cleanliness. Blood tests were also evaluated. The scores and the blood results were analyzed using Kruskal-Wallis and Chi-squared tests.Results: A total of 120 patients (median age of 55; 57 males) [RitePrep (n = 40), MoviPrep® (n = 40) and Plenvu™ (n = 40)] were included in the study. RitePrep was the most effective method for cleansing the bowel, with a significantly higher median BBPS compared to MoviPrep® and Plenvu™ (p = 0.006 and 0.024, respectively). Nearly 50% of the patients in Plenvu™ group showed increased serum osmolality disturbance. Nausea and vomiting were higher in Plenvu™ and MoviPrep® groups than RitePrep group.Conclusions: RitePrep was demonstrated to be a more effective and safe preparation than the other two preparations. RitePrep was not only well-tolerated by all patients; the preparation sufficiently cleared the ascending, transverse, and descending colon, enabling optimal visualization for the clinician. RitePrep was also much safer than the comparators, with no alteration in electrolytes measured. For both the clinician and the patient, RitePrep was the preferred preparation.
Networks Are Associated With Depression in Patients With Parkinson’s Disease: A Resting-State Imaging Study
Authors: Liao Haiyan , Cai Sainan , Shen Qin , Fan Jie , Wang Tianyu , Zi Yuheng , Mao Zhenni , Situ Weijun , Liu Jun , Zou Ting , Yi Jinyao , Zhu Xiongzhao , Tan Changlian 
Published: February 2021

BackgroundDisturbance of networks was recently proposed to be associated with the occurrence of depression in Parkinson’s disease (PD). However, the neurobiological mechanism of depression underlying PD remains unclear.ObjectiveThis study was conducted to investigate whether intra-network and inter-network brain connectivity is differently changed in PD patients with and without depression (PDD and PDND patients, respectively).MethodsForty-one PDD patients, 64 PDND patients, and 55 healthy controls (HCs) underwent resting-state functional magnetic resonance imaging (fMRI). The default mode network (DMN), executive control network (ECN), salience network (SN), precuneus network (PCUN), and sensorimotor network (SMN) were extracted using independent component analysis (ICA), and then the functional connectivity (FC) values within and between these networks were measured.ResultsPDD patients exhibited abnormal FC values within the DMN, ECN, SN, PCUN, and SMN. In addition, PDD patients demonstrated decreased connectivity between anterior SN (aSN) and bilateral ECN, between posterior SN (pSN) and dorsal DMN (dDMN), and between PCUN and dDMN/SMN/bilateral ECN. Connectivity within the left hippocampus of dDMN and the right medial superior frontal gyrus of aSN was a significant predictor of depression level in PD patients.ConclusionsAberrant intra- and inter-network FC is involved in several important hubs in the large-scale networks, which can be a biomarker for distinguishing PDD from PDND.
Construction and Validation of Nomograms Predicting Survival in Triple-Negative Breast Cancer Patients of Childbearing Age
Authors: Cui Xiang , Song Deba , Li Xiaoxu 
Published: February 2021

BackgroundTriple-negative breast cancer (TNBC) is one of the most aggressive subtypes of breast cancer with poorest clinical outcomes. Patients of childbearing age have a higher probability of TNBC diagnosis, with more demands on maintenance and restoration of physical and psychosocial function. This study aimed to design effective and comprehensive nomograms to predict survival in these patients.MethodsWe used the SEER database to identify patients with TNBC aged between 18 and 45 and randomly classified these patients into a training (n=2,296) and a validation (n=2,297) cohort. Nomograms for estimating overall survival (OS) and breast cancer-specific survival (BCSS) were generated based on multivariate Cox proportional hazards models and competing-risk models in the training cohort. The performances of the nomograms were quantified in the validation cohort using calibration curves, time-dependent receiver operating characteristic (ROC) curves and Harrell’s concordance index (C-index).ResultsA total of 4,593 TNBC patients of childbearing age were enrolled. Four prognostic factors for OS and six for BCSS were identified and incorporated to construct nomograms. In the validation cohort, calibration curves showed excellent agreement between nomogram-predicted and actual survival data. The nomograms also achieved relatively high Harrell’s C-indexes and areas under the time-dependent ROC curves for estimating OS and BCSS in both training and validation cohorts.ConclusionsIndependent prognostic factors were identified, and used to develop nomograms to predict OS and BCSS in childbearing-age patients with TNBC. These models could enable individualized risk estimation and risk-adapted treatment for these patients.
Dichondra repens J.R.Forst. and G.Forst.: A Review of Its Traditional Uses, Chemistry, Pharmacology, Toxicology and Applications
Authors: Yao Qi , Wang Ying , Dong Zhiyu , Lai Chencen , Chang Botao , Gong Qiuju , Ren Shuaijun , Sun Dongxue , Lu Jie , Gao Ying 
Published: February 2021

Ethnopharmacology relevance:Dichondra repens J.R.Forst. and G.Forst (DRF; Convolvulaceae, called Matijin in Chinese), has been traditionally used to treat jaundice, bacillary dysentery, urinary tract infection, edema, contusions, and strains and sprains based on traditional Chinese medicine (TCM) concepts.Aim of study: This paper intends to provide a comprehensive and critical analysis of research on DRF focusing on a relationship between traditional uses and pharmacological effects, evaluating the therapeutic potential of this plant.Methods: Relevant data on DRF were retrieved from available databases.Results: The heat-clearing and detoxifying, and removing the phlegm and turbid urine effects of DRF are linked to its anti-hepatitis B virus (HBV), anti-inflammatory, and hepatoprotective activities. Especially, the hepatoprotective effects of DRF are mainly based on anti-HBV activities of phenylalanine dipeptides Matijin-Su (MTS) and its derivatives derived from this plant. Further, a phase I anti-HBV clinical trial of a candidate compound named bentysrepinine (Y101, Chinese name Tifentai) has been completed. Also, anti-tumor, analgesic, and antibacterial properties have been reported in the extracts and compounds from DRF. Although pharmacy, pharmacodynamics, toxicology, and pharmacokinetics of bentysrepinine have been systemically reported, no studies have reported chemistry, safety, pharmacology of other compounds or extracts systemically.Conclusion: Phenylalanine dipeptide compounds are main components and MTS is a characteristic substance of DRF. The main pharmacological effect of DRF is anti-HBV activity, which is coherent with the traditional use of this plant in China. Except bentysrepinine, few studies have been conducted on toxicities of the extracts or compounds from DRF. Thus, it is still necessary to evaluate safety, chemistry, pharmacology of the extracts or compounds from DRF regarding the link between traditional uses and modern applications before the future clinical trials. Bacterial sepsis, cholecystitis and tumors may be prior therapeutic targets of this plant in the future.
Low Dose Rivaroxaban for Atherosclerotic Cardiovascular Diseases: A Systematic Review and Meta-analysis
Authors: Chen Can , Kan Yuanqing , Shi Zhenyu , Guo Daqiao , Fu Weiguo , Li Yanli , Lv Qianzhou , Li Xiaoyu , Si Yi 
Published: February 2021

Background: This study aims to explore the role of low-dose rivaroxaban (≤10 mg daily) for the treatment of atherosclerotic cardiovascular disease (ASCVD).Methods: PubMed, Embase and the Cochrane Library were searched for randomized controlled trials (RCTs) of low-dose rivaroxaban in patients with ASCVD including coronary artery disease (CAD) and peripheral artery disease (PAD). Literature screening, data extraction, and risk of bias assessment were carried out independently by two researchers. Hazard ratio (HR) and 95% confidence interval (CI) were calculated using random-effect models to determine risks of outcomes in ASCVD patients treated with rivaroxaban and comparators, and meta-analysis was conducted via Review Manager 5.3.5 software.Results: 3,768 records were obtained through literature search, and 9 articles representing 6 RCTs ultimately qualified for this study. The meta-analysis indicated that for patients with CAD, the addition of rivaroxaban (5 mg daily) to aspirin could significantly reduce the risk of major adverse cardiovascular events (MACEs) compared with aspirin alone (HR 0.81, 95% CI, 0.72 to 0.91, p = 0.0004, I2 = 60%, 4 studies). For PAD patients receiving rivaroxaban (5 mg daily) plus aspirin, there was no significant reduction in the risk of MACEs (HR 0.84, 95% CI, 0.63 to 1.13, p = 0.25, I2 = 74%, 2 studies); however, there was significant reduction in major adverse limb events (MALEs) (HR 0.54, 95% CI, 0.35 to 0.83, p = 0.005, one studies) and in the composite of MACEs or MALEs (HR 0.78, 95% CI, 0.64 to 0.95, p = 0.02, I2 = 66%, 2 studies) when compared with patients receiving aspirin alone. Meanwhile, rivaroxaban combined with aspirin significantly increased the risk of International Society on Thrombosis and Haemostasis (ISTH) major bleeding compared with aspirin alone in patients with CAD (HR 1.74, 95% CI, 1.43 to 2.13, p &lt; 0.00001, I2 = 0%, 2 studies) and PAD (HR 1.47, 95% CI, 1.19 to 1.83, p = 0.0004, I2 = 0%, 2 studies).Conclusions: Compared with standard antiplatelet therapy, the addition of a 5 mg daily dose of rivaroxaban to standard antiplatelet therapy may improve cardiovascular or limb outcomes of patients with ASCVD, with an increase in major bleeding. Patients who would benefit from the addition of low-dose rivaroxaban to antiplatelet agents and appropriate dual-pathway antithrombotic strategies should be identified in clinical practice to individualize antithrombotic therapy.
Discrepancies Between Explicit Feelings of Power and Implicit Power Motives Are Related to Anxiety in Women With Anorexia Nervosa
Authors: Weineck Felicitas , Schultchen Dana , Dunker Freya , Hauke Gernot , Lachenmeir Karin , Schnebel Andreas , Karačić Matislava , Meule Adrian , Voderholzer Ulrich , Pollatos Olga 
Published: February 2021

BackgroundSeveral studies identified low subjective feelings of power in women with anorexia nervosa (AN). However, little is known about implicit power motives and the discrepancy between explicit feelings of power and implicit power motives in AN.AimThe study investigated the discrepancy between explicit feelings of power and implicit power motives and its relationship to anxiety in patients with AN.MethodFifty-three outpatients and inpatients with AN and 48 participants without AN were compared regarding subjective feelings of power and anxiety. Explicit power [investigated with the Personal Sense of Power Scale (trait focus) and a visual analog scale (state focus)], implicit power motives [investigated with the Multi-Motive Grid (MMG)] and trait anxiety [measured with the State-Trait Anxiety Inventory (STAI)], were assessed.ResultsExplicit feelings of power (state and trait level) were lower in patients with AN compared to non-AN participants. No differences in implicit power motives were found when comparing the groups against each other. However, looking at the groups separately, women with AN had similar levels of implicit fear of losing power and hope for power, whereas woman without AN had significantly lower fear of losing power than hope for power. Focusing on discrepancies between powerful feelings and power motives, results were mixed, depending on the subscale of the MMG. Lastly, discrepancies between implicit power motives and explicit feelings of power were positively correlated with trait anxiety in AN patients.ConclusionThese findings underline that individuals with AN display significantly lower explicit feelings of power, however, they show similar implicit power motives compared to individuals without AN. The discrepancy between explicit feelings of power and implicit power motives is related to anxiety in AN and may represent a vulnerability factor to illness maintenance.
Early Initiation of a Standardized Open Abdomen Treatment With Vacuum Assisted Mesh-Mediated Fascial Traction Achieves Best Results
Authors: Berrevoet Frederik , Lampaert Silvio , Singh Kashika , Jakipbayeva Kamilya , van Cleven Stijn , Vanlander Aude 
Published: February 2021

Background: The open abdomen (OA) is an important approach for managing intra-abdominal catastrophes and continues to be the standard of care. Complete fascial closure is an essential treatment objective and can be achieved by the use of different dynamic closure techniques. Both surgical technique and—decision making are essential for optimal patient outcome in terms of fascial closure. The aim of this study was to analyse patients' outcome after the use of mesh-mediated fascial traction (MMFT) associated with negative pressure wound therapy (NPWT) and identify important factors that negatively influenced final fascial closure.Methods: A single center ambispective analysis was performed including all patients treated for an open abdomen in a tertiary referral center from 3/2011 till 2/2020. All patients with a minimum survival &gt;24 h after initiation of treatment were analyzed. The data concerning patient management was collected and entered into the Open Abdomen Route of the European Hernia Society (EHS). Patient basic characteristics considering OA indication, primary fascial closure, as well as important features in surgical technique including time after index procedure to start mesh mediated fascial traction, surgical closure techniques and patients' long-term outcomes were analyzed.Results: Data were obtained from 152 patients who underwent open abdomen therapy (OAT) in a single center study. Indications for OAT as per-protocol analysis were sepsis (33.3%), abdominal compartment syndrome (31.6%), followed by peritonitis (24.2%), abdominal trauma (8.3%) and burst abdomen (2.4%). Overall fascial closure rate was 80% as in the per-protocol analysis. When patients that started OA management with MMFT and NPWT from the initial surgery a significantly better fascial closure rate was achieved compared to patients that started 3 or more days later (p &lt; 0.001). An incisional hernia developed in 35.8% of patients alive with a median follow-up of 49 months (range 6–96 months).Conclusion: Our main findings emphasize the importance of a standardized treatment plan, initiated early on during management of the OA. The use of vacuum assisted closure in combination with MMFT showed high rates of fascial closure. Absence of initial intraperitoneal NPWT as well as delayed start of MMFT were risk factors for non-fascial closure. Initiation of OA with VACM should not be unnecessary delayed.
On the Cryptanalysis of a Latin Cubes-Based Image Cryptosystem
Authors: Huang Rong , Liu Hao , Liao Xiaojuan , Dong Aihua 
Published: February 2021

Based on orthogonal Latin cubes, an image cryptosystem with confusion–diffusion–confusion cipher architecture has been proposed recently (Inf. Sci.2019, 478, 1–14). However, we find that there are four fatal vulnerabilities in this image cryptosystem, which leave open doors for cryptanalysis. In this paper, we propose a reference-validation inference algorithm and design screening-based rules to efficiently break the image cryptosystem. Compared with an existing cryptanalysis algorithm, the proposed method requires fewer pairs of chosen plain-cipher images, and behaves stably since different keys, positions of chosen bits and contents of plain images will not affect the cryptanalysis performance. Experimental results show that our cryptanalysis algorithm only requires 8×H×W3+3 pairs of chosen plain-cipher images, where H×W represents the image’s resolution. Comparative studies demonstrate effectiveness and superiority of the proposed cryptanalysis algorithm.