bluuebunny/crossref_metadata_2025_split huggingface dataset:
Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China
Authors: Dong Dong , Chung Roger Yat-Nork , Chan Rufina H.W. , Gong Shiwei , Xu Richard Huan 
Published: September 2020

Abstract
BackgroundFor patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that are associated with RD patients’ misdiagnosis. The objective of this study is to analyze data from a national survey among 2,040 RD patients from China to explore the association between misdiagnosis and various factors, including patients’ demographics, socio-economic status, medical history, and their accessibility to RD information.ResultsThree binary logistic regression analyses were performed to assess the relationships between misdiagnosis and level of rarity of the RDs (mild, moderate, and severe), demographics, health insurance levels, and accessibility to disease-related information by using the total sample, and the adult and non-adult sub-samples. We found that accessibility to RD information is the most critical factor influencing the patients’ chances of being misdiagnosed (odds ratio [OR] =4.459, p<0.001). In other words, the greater the difficulty in accessing the information on RD management, the higher the possibility of experiencing misdiagnosis.Such influences of information accessibility on misdiagnosis were repeatedly discovered when examining the adult (OR=3.732, p<0.001) and the non-adult (OR=5.174, p<0.001) sub-samples. The association between perceived economic status and misdiagnosis was only significant in the total sample. The only other factor significantly associated with misdiagnosis was disease multimorbidity: participants who reported no multimorbidity are less likely to experience misdiagnosis (OR=0.42, p<0.001).ConclusionsOur study indicated that patients with RDs who have difficulty in accessing disease-related information are two to five times more likely to have experienced misdiagnosis. Even after adjusting for the patients’ age, gender, economic levels, and education levels, the impact of information accessibility was still significant. Our finding highlights the importance of access to information in reducing misdiagnosis among RD patients.
Identification of a quantitative trait loci (QTL) associated with ammonia tolerance in the Pacific white shrimp (Litopenaeus vannamei)
Authors: Zeng Digang , Yang Chunling , Li Qiangyong , Zhu Weilin , Chen Xiuli , Peng Min , Chen Xiaohan , Lin Yong , Wang Huanling , Liu Hong , Liang Jingzhen , Liu Qingyun , Zhao Yongzhen 
Published: September 2020

Abstract
Background: Ammonia is one of the most common toxicological environment factors affecting shrimp health. Although ammonia tolerance in shrimp is closely related to successful industrial production, few genetic studies of this trait are available. Results: In this study, we constructed a high-density genetic map of the Pacific white shrimp (Litopenaeus vannamei) using specific length amplified fragment sequencing (SLAF-seq). The constructed genetic map contained 17,338 polymorphic markers spanning 44 linkage groups, with a total distance of 6,360.12 centimorgans (cM) and an average distance of 0.37 cM. Using this genetic map, we identified a quantitative trait locus (QTL) that explained 7.41–8.46% of the phenotypic variance in L. vannamei survival time under acute ammonia stress. We then sequenced the transcriptomes of the most ammonia-tolerant and the most ammonia-sensitive individuals from each of four genetically distinct L. vannamei families. We found that 7546 genes were differentially expressed between the ammonia-tolerant and ammonia-sensitive individuals. Using QTL analysis and the transcriptomes, we identified one candidate gene (annotated as an ATP synthase g subunit) associated with ammonia tolerance. Conclusions: In this study, we constructed a high-density genetic map of L. vannamei and identified a QTL for ammonia tolerance. By combining QTL and transcriptome analyses, we identified a candidate gene associated with ammonia tolerance. Our work provides the basis for future genetic studies focused on molecular marker-assisted selective breeding.
Comparing Multiple Statistical Software for Multiple-Indicator, Multiple-Cause Modeling: An Application of Gender Disparity in Adult Cognitive Functioning Using MIDUS II Dataset
Authors: Chang Chi , Gardiner Joseph , Houang Richard T , Yu Yan-Liang 
Published: September 2020

Abstract
Background The Multiple-indicator, multiple-cause model (MIMIC) incorporates covariates of interest in the factor analysis using latent variable framework, of which classical structural equation model is a special case. The MIMIC model provides rigorous results and becomes broadly available in multiple statistical software. The current study introduces the MIMIC model and how it can be implemented using statistical software packages SAS CALIS procedure, R lavaan package, and Mplus version 8.0. Methods In this paper, we first discussed the formulation of the MIMIC model with regard to model specification and identification. We then demonstrated the empirical application of the MIMIC model with the Midlife in the United States II (MIDUS II) Study (N=4,109) using SAS CALIS procedure, R lavaan package and Mplus version 8.0 to examine gender disparities in cognitive functioning. The input, output, and diagram syntaxes of the three statistical software packages were also presented.Results In terms of data structure, all three statistical programs can be conducted using both raw data and empirical covariance matrix. SAS and R are comprehensive statistical analytic packages and encompass numerous data manipulation capacities. Mplus is designed primarily for latent variable modeling and has far more modeling flexibility compared to SAS and R, but limited in data manipulation. Differences in model results from the three statistical programs are trivial. Overall, the results show that while men show better performance in executive function than women, women demonstrate better episodic memory than men.Conclusions Our study demonstrates the utility of the MIMIC model in its empirical application, fitted with three popular statistical software packages. Results from our models align with empirical findings from previous research. We provide coding procedures and examples with detailed explanations in the hopes of providing a concise tutorial for researchers and methodologists interested in incorporating latent constructs with multiple indicators and multiple covariates in their research projects. Future researchers are encouraged to adopt this flexible and rigorous modeling approach.
Process evaluation of the implementation of a parenting programme for Somali-born parents living in Sweden
Authors: Osman Fatumo , Schön Ulla-Karin , Klingberg-Allvin Marie , Flacking Renée , Tistad Malin 
Published: September 2020

Abstract
Background: Forced migration has been shown to have a negative impact on family dynamics, parenting and the parent-child relationship. Parental support programmes aim to strengthen family functioning and the parent-child relationship and to promote the mental health of children and parents. However, there is a lack of knowledge on how parenting support programmes can be implemented for newly arrived immigrant parents. This process evaluation, therefore, describes the implementation of a successful parenting programme for immigrant parents from Somalia and identifies key components in the implementation process.Method: This process evaluation considered context, implementation and mechanism of impact, in accordance with the Medical Research Councils guidance. Data were collected through focus group discussions, a questionnaire, attendance lists, field and reflection notes, and observations of the sessions. The data were then analysed using content analysis and descriptive statistics. Results: The findings showed that of the 60 parents who were invited to the parenting programme, 58 participated in the sessions. The study showed that involving key individuals in the early stage of the implementation facilitated reaching the Somali-born parents in the parenting programme. To retain the participants in the programme, parents were offered free transportation. The programme was implemented and delivered as intended. A majority of the parents were satisfied with the programme, and they reported increased knowledge about children’s rights and the support they might seek from social services. Conclusions: This study illustrates how a parenting support programme can be implemented for Somali-born parents and provides guidance on how to engage and attract immigrant parents to participate in parenting support programmes.
Methylome and transcriptome profiles in three yak tissues revealed that DNA methylation and the transcription factor ZGPAT co-regulate milk production
Authors: Xin Jinwei , Chai Zhixin , Zhang Chengfu , Zhang Qiang , Zhu Yong , Cao Hanwen , Cidan Yangji , Chen Xiaoying , Jiang Hui , Zhong Jincheng , Ji Qiumei 
Published: September 2020

Abstract
BackgroundDomestic yaks play an indispensable role in sustaining the livelihood of Tibetans and other ethnic groups on the Qinghai-Tibetan Plateau (QTP), by providing milk and meat. They have evolved numerous physiological adaptations to high-altitude environment, including strong blood oxygen transportation capabilities and high metabolism. The roles of DNA methylation and gene expression in milk production and high-altitudes adaptation need further exploration. Results We performed genome-wide DNA methylome and transcriptome analyses of breast, lung, and biceps brachii muscle tissues from yaks of different ages. We identified 432,350 differentially methylated regions (DMRs) across the age groups within each tissue. The post-mature breast tissue had considerably more differentially methylated regions (155,957) than that from the three younger age groups. Hypomethylated genes with high expression levels might regulate milk production by influencing protein processing in the endoplasmic reticulum. According to weighted gene correlation network analysis, the “hub” gene ZGPAT was highly expressed in the post-mature breast tissue, indicating that it potentially regulates the transcription of 280 genes that influence protein synthesis, processing, and secretion. The tissue network analysis indicated that high expression of HIF1A regulates energy metabolism in the lung. ConclusionsThis study provides a basis for understanding the epigenetic mechanisms underlying milk production in yaks, and the results offer insight to breeding programs aimed at improving milk production.
A newfangled coordinated ruthenium phloretin complex reprogramming breast cancer microenvironment interceded by modulation of PI3K/Akt/mTOR/VEGF pathway and modifying the antioxidant status correlated with intensified apoptotic events.
Authors: He Chenyang , Yu Guo , Mondru Anil Kumar , Chakraborty Tania , Roy Souvik 
Published: September 2020

Abstract
Background: Our recent investigation directed to synthesize and characterize a novel ruthenium– phloretin complex accompanied by the study of antioxidant in addition to DNA binding capabilities, and to determine the chemotherapeutic activity against breast carcinoma in vitro and in vivo approach.Methods: Ruthenium–phloretin complex was synthesized and characterized using various spectroscopic methods. The complex was further investigated to determine its efficacy in both MCF-7 and MDA-MB-231 human cancer cell lines and finally in an in vivo model of DMBA induced mammary carcinogenesis in ratsResults: Our studies confirm that the chelation of the metal and ligand was materialize by the 3-OH and 9-OH functional groups of the ligand and the complex is found crystalline and was capable of intercalating with CT-DNA. The complex was capable of reducing cellular propagation and initiate apoptotic events in MCF-7 and MDA-MB-231 breast carcinoma cell lines. Additionally, ruthenium-phloretin complex could modulate p53 intervene apoptosis in the breast carcinoma, initiated by the intrinsic apoptotic trail facilitated by the Bcl2 and Bax and at the same time down regulating the PI3K/Akt/mTOR pathway coupled with MMP9 regulated tumor invasive pathways.Conclusions: Ruthenium-phloretin chemotherapy could interrupt, revoke or suspend the succession of breast carcinoma by altering intrinsic apoptosis along with the antiangiogenic pathway, hence fulfilling the role of a prospective candidate in cancer chemotherapeutics in the in the near future.
WITHDRAWN: Comparison Of Different Anesthetic Techniques Used For Geriatric Patients Who Underwent TUR-P Operation: Single Center Experience
Authors: Gozcu Ozge , Sen Elzem , Sen Haluk , Bayrak Omer 
Published: September 2020

Abstract
Objectives
To investigate impacts that effect entrance to intensive care unit, mortality, and cost; according to demographical and clinical parameters of patients, and different anesthetic techniques performed on patients who underwent TUR-P operation.
Methods
Data of 234 patients aged 60 years and older who underwent TUR-P operations was evaluated retrospectively. The patients were examined in two groups as neuroaxial and general anesthesia groups. Charlson Comorbidity Index, preoperative laboratory parameters, presence of comorbidity, preoperative intensive care requirement, operation duration were obtained from hospital records. The cost calculation was based on the length of the patient's stay in hospital and intensive care unit.
Results
According to ASA score, no significant difference was observed among operation duration, length of hospital stay and intensive care unit stay. According to the CCI score, there was no significant difference among the operation time; however, when the patient's CCI was 3 and above 3, the duration of intensive care stay and hospital stay were significantly longer. The cost was increased significantly when CCI was 3 and above 3, but did not change according to the ASA score.
Conclusions
In our study, it was observed that the type of anesthesia did not affect the duration of surgery, rate of entrance to intensive care unit, length of intensive care stay, length of hospital stay, mortality and the cost. However, it was observed that the duration of hospitalization and rate of intensive care unit entrance increased in patients with CCI 3 and above, therefore the cost was increased.
Metabolic Shifts in Marine Phytoplankton From Viral Infection and Diel Cycles Uncovered Using Dynamic Bayesian Networks
Authors: Liu Xiang , Hurwitz Bonnie L. 
Published: September 2020

Abstract
Viruses play a fundamental role in the ecological dynamics of marine microbes by influencing host metabolic flux and altering population size via viral lysis. Despite recent advances in understanding the temporal and environmental factors that drive community-level microbial interactions, viral activity is currently unaccounted for in biogeochemical models. Moreover, the host’s metabolic response to viral infection in natural systems remains elusive. Here, we examine changes in metabolism in marine microbial communities related to virus activity and diel cycles in the surface oceans in the North Pacific Subtropical Gyre (NPSG). We use a time-varying dynamic Bayesian network (DBN) to untangle gene co-expression networks in dominant microbes associated with the environment. The resulting data suggest that viruses play a significant role in driving microbial metabolic flux on par with diel cycles. Most notably, viruses play an opportunistic role by synchronizing viral lysis with diel cycles in their photoautotrophic hosts; and continually infecting heterotrophic hosts by co-opting their alternative energy production strategies to drive replication throughout the day. This work provides a unified model that accounts for both viral activity and diel cycles to predict the distribution, variability, and trajectory of dominant microbes and their key metabolic pathways in global ocean processes.
[68Ga]Ga-PSMA-11 &nbsp;PET before and after initial long term androgen deprivation in patients with newly diagnosed prostate cancer: a retrospective single-center study.
Authors: Hoberück Sebastian , Löck Steffen , Winzer Robert , Zöphel Klaus , Froehner Michael , Fedders Dieter , Kotzerke Jörg , Hölscher Tobias 
Published: September 2020

Abstract
Purpose:The study aimed to evaluate the effect of androgen deprivation therapy (ADT) on PSMA imaging and its correlation to the PSA concentration by comparing qualitative and quantitative parameters: SUVmax, SUVmean, PSMA-derived tumor volume (PSMA-TV), total lesion PSMA (TL-PSMA) and molecular imaging (mi)PSMA score.Methods:Retrospective analysis of 21 therapy-naïve patients with oligometastatic prostate cancer (median age 70 years) who underwent either [68Ga]Ga-PSMA-11-PET/CT or -PET/MRI before initiation of (T1) as well as during ADT (T2). The median duration of ADT was 155 days (range: 61-289 days). All lesions were analyzed using several qualitative and quantitative PET parameters.Results:A total of 109 PSMA-positive lesions (24 intraprostatic, 56 lymphonodal, and 29 osseous) were visually detected at any of the examinations, while at T2, two new bone lesions were detected in one patient. During ADT, all patients experienced a decrease in their PSA level (median: 29.1 before vs. 0.71 after; p<0.001). During long-term ADT, a relevant decrease in lesion count occurred, especially in patients with a T2 PSA value < 1 ng/ml (median: 4 vs. 0.9; p=0.007) and PSMA expression, which resulted in miN- and/or miM-downstaging in 11 patients (52.7%).All analyzed PET parameters correlated strongly with each other. The PSA level at T2 correlated modestly with the decrease in PSMA expression and its derived volumes.Conclusion:Post-ADT scans detected, especially in patients with a residual PSA < 1 ng/ml, fewer PSMA-positive lesions with overall lower PSMA expression, regardless of primary tumor site or metastatic sites. None of the PET parameters has proven to be superior, as they all correlated modestly with the PSA value at T2. Thus, the simply acquirable miPSMA score seems to be the most suitable for evaluating the effect of ADT on PSMA expression.
Parallel processing of sensory cue and spatial information in the Dentate Gyrus
Authors: Tuncdemir Sebnem , Grosmark Andres , Turi Gergely , Shank Amei , Bowler John , Ordek Gokhan , Losonczy Attila , Hen Rene , Lacefield Clay 
Published: September 2020

Abstract
During exploration, animals form an internal map of an environment by combining information about specific sensory cues or landmarks with the animal’s motion through space, a process which critically depends on the mammalian hippocampus. The dentate gyrus (DG) is the first stage of the hippocampal trisynaptic circuit where self-motion and sensory cue information are integrated, yet it remains unknown how neurons within the DG encode both cue related (“what”) and spatial (“where”) information during cognitive map formation. Using two photon calcium imaging in head fixed mice running on a treadmill, along with on-line sensory cue manipulation at specific track locations, we have identified robust sensory cue responses in DG granule cells largely independent of spatial location. Granule cell cue responses are stable for long periods of time, selective for the modality of the stimulus and accompanied by strong inhibition of the firing of other active neurons. At the same time, there is a smaller fraction of neurons whose firing is spatially tuned but insensitive to the presentation of nearby cues, similar to traditional place cells. These results demonstrate the existence of “cue cells” in addition to the better characterized “place cells” in the DG, an important heterogeneity that has been previously overlooked. We hypothesize that the observed diversity of representations within the granule cell population may support parallel processing of complementary sensory and spatial information and impact the role of the dentate gyrus in spatial navigation and episodic memory.
Simvastatin improves the prognosis of endotoxin-induced disseminated intravascular coagulation by regulating the intestinal microenvironment
Authors: Xu Min , Luo Lili , Du Mengyi , Tang Lu , Zhou Jie , Hu Yu , Mei Heng 
Published: September 2020

Abstract
Background: Disseminated intravascular coagulation (DIC) is characterized by extensive endothelial injury and coagulation activation that is primarily caused by infection and can be aggravated by the gut due to increased permeability and bacterial translocation. Studies have shown that statins play an important role in reducing inflammation, protecting the endothelium and improving coagulation. In addition, statins regulate tight junction (TJ) proteins and gut microbes. Therefore, we aimed to investigate whether simvastatin improves DIC prognosis by regulating the intestinal microenvironment. Methods: Mice were administered 20 mg/kg simvastatin by gavage for 2 weeks and then intraperitoneally injected with 50 mg/kg endotoxin. Twelve hours later, cytokine release, coagulation dysfunction, multiple organ damage and survival were assessed. In addition, intestinal barrier and permeability and bacteria and bacteria translocation were evaluated. Results: We found that the severity of endotoxin-induced DIC was significantly improved in simvastatin-pretreated mice, who showed attenuated depletion of coagulation factors and platelets, decreased plasminogen activator inhibitor-1 (PAI-1) expression, reduced organ fibrin deposition and an improved survival rate. In addition, simvastatin reduced epithelial apoptosis, increased TJ gene expression, and upregulated antimicrobial peptides, lysozyme and mucins. Simvastatin-pretreated mice showed increased Lactobacillales counts, while the LPS group had increased numbers of Desulfovibrio and Mucispirillum, which produce harmful toxins and damage the intestinal epithelium and mucosa. Finally, with the decreased intestinal permeability in the simvastatin group, bacterial translocation in the organs and blood was significantly reduced, both in quantity and species. Conclusions: Simvastatin improves DIC prognosis, and the intestinal microenvironment participates in this process.
Polar nematic state in an iron-based superconductor LaFeAsO1-xHx
Authors: Maki Sachiko , Yamaura Jun-ichi , Iimura Soshi , Abe Hitoshi , Sagayama Hajime , Kumai Reiji , Murakami Youichi , Matsuishi Satoru , Hosono Hideo 
Published: September 2020

Abstract
High critical temperature (Tc) superconductivity is generally considered to result from a fluctuation-mediated Cooper-pairing derived from a parent phase. The question of what type of fluctuation forms in materials thus plays a key role in understanding the mechanism of superconductivity. The iron-based superconductor LaFeAsO1-xHx possesses bipartite magnetic parent phases with centrosymmetric (x ~ 0) and non-centrosymmetric (x ~ 0.5) structures. The latter is an intriguing polar-metal phase induced by temperature and carrier doping. Here, we investigate average and local structures of LaFeAsO1-xHx using X-ray diffraction and extended X-ray absorption fine-structure measurements. We found lattice C4 symmetry breaking far above the structural transition temperature, and the signature of a tiny split in As–Fe bond distances with broken spatial inversion symmetry in a wide temperature/doping range. The former reveals a nematic state, and the latter highlights a fluctuated state of polar structure which can be appropriately called polar nematic state.