bluuebunny/crossref_metadata_2025_split huggingface dataset:
National Rare Diseases Registry System (NRDRS) – China’s First Nation-Wide Rare Diseases Demographic Analyses
Authors: Guo Jian , Liu Peng , Chen Limeng , Lv Haohan , Li Jie , Yu Weichao , Xu Kaifeng , Zhu Yicheng , Wu Zhihong , Tian Zhuang , Jin Ye , Yang Rachel , Gu Weihong , Zhang Shuyang 
Published: June 2021

Abstract
China has made remarkable broad and system wide progress in serving the needs of its people living with rare diseases, especially over the last 5 years. The Chinese government’s systematic approach included a series of coordinated initiatives, amongst these are: forming the Rare Disease Expert Committee (2016), to funding the “Rare Diseases Cohort Study” (2016–2020), and to publishing its first “Rare Disease Catalog” (2018). Herein, we present the National Rare Diseases Registry System (NRDRS), China’s first national rare diseases registry, and analysis of the cases registered in the first 5 years ending Dec 31, 2020. The total 62,590 cases covered 166 diseases/disease types, forming 183 disease cohorts. The data from nearly 22% of them (13,947 cases) is also linked to valuable biological samples. The average age of definitive diagnosis was 30.88 years; 36.07% under 18 years of age. Regional distribution analysis showed 60% of cases were from the more developed East and North China, suggesting the local availability of quality care and patients’ financial status were key access factors. Finally, 82.04% of cases were registered from the five clinical departments: Neurology, Endocrine, Hematology, Cardiovascular, and Nephrology, suggesting that either these are most affected by rare diseases, or that there were disease non-specific ascertainment factors. The preliminary analysis of the first 5-year’s data provides unique and valuable insight on rare disease distribution in China, and higlights directions for enhancing equity, scale and utility.
Which Sagittal Evaluation System Can Effectively Predict Mechanical Complications in the Treatment of Elderly Patients With Adult Degenerative Scoliosis? Roussouly Classification or Global Alignment and Proportion (GAP) Score
Authors: Sun Xiangyao , Sun Wenzhi , Sun Siyuan , Hu Hailiang , Zhang Sitao , Kong Chao , Lu Shibao 
Published: June 2021

Abstract
Background: To achieve the proper sagittal alignment, previous studies have developed different assessment systems for degenerative spinal deformity which could help us in making treatment strategies. The purpose of our study is to evaluate whether Roussouly classification or GAP score is more appropriate in the prediction of mechanical complications after surgical treatment of ADS.Methods: The ADS patients who received long segmental fusion in the treatment during the period from December 2016 to December 2018 were evaluated in this study. The basic information of the patients and all radiologic measurements, which were included in GAP score and Roussouly classification, were collected for analysis. Patients were divided into two groups according to occurrence or absence of mechanical complications for comparison. The correlation between evaluation systems and mechanical complications could be analyzed in logistic regression model via stepwise backward elimination based on the Wald statistics. ROC curve was used to determine the predictability of the evaluation systems in the occurrence of mechanical complications and calculate their cut-off value. A two-tailed P value < 0.05 was statistically significant for all statistical tests.Results: A total of 80 cases were included in this study. The results of logistic regression showed: GAP score (P = 0.008) and GAP categories (P = 0.007) were positively correlated with mechanical complications; Roussouly score was negatively correlated with mechanical complications (P=0.034); GAP score was positively correlated with PJK (P = 0.021); Roussouly score was negatively correlated with implant-related complications (P = 0.018); GAP categories were correlated with implant loosening (P = 0.023). Results of ROC showed that GAP score was most effective in predicting PJK (AUC = 0.863) and PJF (AUC = 0.724); GAP categories (AUC = 0.561) was more effective than GAP score (AUC = 0.555) in predicting implant-related complications.Conclusions: Roussouly-type matching could not accurately predict the risk of mechanical complications. In contrast, GAP score was most effective in predicting PJK and PJF. The GAP score was better than Roussouly classification in predicting mechanical complications.
Transcriptome Profiling Revealed Candidate Genes, Pathways and Transcription Factors Related to Nitrogen Utilization and Excessive Nitrogen Stress in Perennial Ryegrass
Authors: Li Yinruizhi , Wang Mengdi , Teng Ke , Dong Di , Liu Zhuocheng , Zhang Tiejun , Han Liebao 
Published: June 2021

Abstract
Ryegrass (Lolium perenne L.) is a type of the high quality forage grasses, which can be a good nutritional source for herbivorous livestock. However, improving the nitrogen utilization efficiency and avoiding the nitrate toxicity caused by excessive nitrogen have long been the challenging tasks in ryegrass. The molecular response mechanism of ryegrass to nitrogen, especially under the condition of excessive nitrogen, remains unclear. In this study, the transcription of perennial ryegrass at different nitrogen levels was identified by high-throughput next-generation RNA sequencing. Phenotypic characterizations showed that ryegrass in treatment N0.5 had a better growth state than the other three groups. Treatments N1 and N10 contained excessive nitrogen, which had a stress effect on plant growth. Analysis of differentially expressed genes indicated that 345 and 104 genes are involved in the regulation of nitrogen utilization and excessive nitrogen stress, respectively. GO enrichment analysis revealed that the plant response to nitrogen was mainly enriched in two categories, including “biological process” and “molecular function”. KEGG enrichment analysis suggested that “Photosynthesis-antenna proteins” may respond positively to nitrogen under appropriate nitrogen conditions, whereas “steroid biosynthesis”, “carotenoid biosynthesis” and “C5-branched dibasic acid metabolism” were identified as the top significantly enriched pathways in response to excessive nitrogen. Transcription factor analysis showed that 21 TFs related to nitrogen utilization were classified into 10 transcription factor families, especially the AP2-EREBP and MYB TF families. Four TFs related to excessive nitrogen stress were identified, including LOB, NAC, AP2-EREBP and HB. The expression patterns of these selected genes were also analyzed.
The Potential Utility of 68Ga-FAPI-04 As a Novel Broad-spectrum Tumor and Inflammatory Imaging Agent - Comparison With 18F-FDG
Authors: Qiu Lin , Lan Lianjun , Liu Hanxiang , Wang Yingwei , Deng Jia , Peng Dengsai , Feng Yue , Wang Li , Chen Yue 
Published: June 2021

Abstract
Objective: This study aimed to compare the diagnostic performance of 68Ga-FAPI-04 and 18F-FDG PET/CT in the patients with various oncological and non-oncological lesions. Patients and Methods: A total of 123 patients underwent contemporaneous 68Ga-FAPI-04 and 18F-FDG PET/CT were included in this prospective study. The maximum standard uptake value (SUVmax) was measured to compare oncological and non-oncological lesion uptake. The sensitivity, specificity, predictive values and accuracy of 18F-FDG and 68Ga-FAPI-04 PET/CT for detecting primary, metastatic, and non-oncological lesions were calculated and compared to evaluate the diagnostic efficacy. Results: The study subjects consisted of 123 patients (69 men and 54 women; mean age: 56.11±11.94). A total of 84 patients with 88 solid primary malignant tumors, 58 patients with 376 nodal metastases, 43 patients with 406 distant metastases, 8 patients with hematological neoplasms and 52 patients with 145 non-oncological lesions and benign tumors were detected. 68Ga-FAPI-04 PET/CT demonstrated a significantly higher uptake and detection rate for the primary (SUVmax: 10.98±5.83 vs. 8.36±6.43, p＜0.001; X2=0.538, p=0.021), nodal (SUVmax: 10.50±5.98 vs. 8.20±6.29, p=0.011; X2=2.067, p＜0.001) and distant metastatic lesions (SUVmax: 6.74±4.83 vs. 9.64±6.45; p＜0.001; X2=4.897, p＜0.001) of solid tumor than did 18F-FDG PET/CT. 68Ga-FAPI-04 PET/CT demonstrated a lower activity (SUVmax: 6.84±4.67 vs. 13.09±7.29, p＜0.001) and detection rate (X2=5.166, p＜0.001) for multiple myeloma and lymphoma compared to 18F-FDG PET/CT. 68Ga-FAPI-04 and 18F-FDG PET/CT PET/CT demonstrated a comparative diagnostic efficacy (SUVmax: 6.40±3.95 vs. 5.74±15.78, p = 0.729; X2 = 9.460, p = 0.007) for non-oncological lesion and benign tumor detection. Conclusions: Except for myeloma and lymphoma, 68Ga-FAPI-04 PET/CT showed a superior diagnostic efficacy for detecting various primary and metastatic lesions than 18F-FDG PET/CT. A comparative diagnostic utility for non-oncological lesion detection was obtained with both tracers. 68Ga-FAPI-04 could be used as a broad-spectrum tumor and inflammatory imaging agent in the clinical especially for various solid tumors and non-oncological lesions.
Coral and Seawater Metagenomes Reveal Key Microbial Functions to Coral Health and Ecosystem Functioning Shaped at Reef Scale
Authors: Lima Laís Farias Oliveira , Alker Amanda , Papudeshi Bhavya , Morris Megan , Edwards Robert , de Putron Samantha , Dinsdale Elizabeth 
Published: June 2021

Abstract
Background The coral holobiont is comprised of a highly diverse microbial community that provides key services to corals such as protection against pathogens and nutrient cycling. The coral surface mucus layer (SML) microbiome is very sensitive to external changes and tied to ecosystem functioning, as it constitutes the direct interface between the coral host and the environment. The functional profile of microbial genes in the coral SML is underexplored and the use of shotgun metagenomics is relatively rare among coral microbiome studies. Here we investigate whether the bacterial taxonomic and functional profiles in the coral SML are shaped by the local reef zone and explore their role in coral health and ecosystem functioning. Results The analysis was conducted using metagenomes and metagenome assemble genomes (MAGs) associated with the coral Pseudodiploria strigosa and the water column from two naturally distinct reef environments in Bermuda: inner patch reefs exposed to a fluctuating thermal regime and the more stable outer reefs . Our results showed that the microbial community structure is simultaneously selected by the host medium (i.e., coral SML versus water) and the local environment (i.e., inner reefs versus outer reefs), both at taxonomic and functional levels. The coral SML microbiome from inner reefs provides more gene functions that are involved in nutrient cycling (e.g., photosynthesis, phosphorus metabolism, sulfur assimilation) and that are related to higher levels of microbial activity, competition, and stress response, such as dimethylsulfoniopropionate (DMSP) breakdown. In contrast, the coral SML microbiome from outer reefs contained genes indicative of a carbohydrate-rich mucus composition found in corals exposed to less stressful temperatures and showed high proportions of microbial gene functions that play a potential role in coral disease, such as degradation of lignin-derived compounds and sulfur oxidation. Conclusion The fluctuating environment in the inner patch reefs of Bermuda could be driving a more beneficial coral SML microbiome; potentially increasing holobiont resilience to environmental changes and disease. Our results reveal microbial taxa and functions selected at reef scale in the coral SML microbiome that can leverage disease management, microbiome engineering, and microbial eco-evolutionary theories.
Community Perception and Acceptance of Patients with Prosthetic Devices after Disabilities in Riyadh, Saudi Arabia
Authors: Alhumaidan Mohammed Ibrahim , Juhani Wazzan S. Al , Hussaini Abdulmohsen A. Al , Angari Hussam S. Al , Jabr Saad Z. Al , Karni Abdullah F. Al 
Published: June 2021

Abstract
The authors have requested that this preprint be removed from Research Square.
Dynamic resource management algorithms for interference prediction in 5G new radio scenarios
Authors: ANGRI Ismail , Mahfoudi Mohammed , Najid Abdellah 
Published: June 2021

Abstract
Efficient Radio Resource Management is a key mechanism in interference management in 5G New Radio (NR) networks, specifically in the case of the presence of mobile users moving at high speed. To this end, the prediction and the evaluation of the propagation channel sensitivity requires that the radio resources allocation in NR must be efficient and powerful. Therefore, several scheduling algorithms have been developed and tested using the mmWave model of NS-3 simulator, with the aim of enhancing their contribution to improving the quality of the signal received by users. The performances have been evaluated in terms of Signal-to-Interference-and-Noise-Ratio (SINR) and signal Block Error Rate (BLER). The simulations were run for different types of data flows, and achieved satisfactory results for most schemes. The achievements clearly show the importance of scheduling algorithms in lowering received interference, but they have also demonstrated the stability and reliability of some of those strategies.
Development and Validation of Interpretable Machine Learning for Stroke Occurrence in Older, Community Chinese Dwellers
Authors: Wu Yafei , Jiang Zhongquan , Lin Shaowu , Fang Ya 
Published: June 2021

Abstract
Background: Prediction of stroke based on individuals’ risk factors, especially for a first stroke event, is of great significance for primary prevention of high-risk populations. Our study aimed to investigate the applicability of interpretable machine learning for predicting a 2-year stroke occurrence in older adults compared with logistic regression.Methods: A total of 5960 participants consecutively surveyed from July 2011 to August 2013 in the China Health and Retirement Longitudinal Study were included for analysis. We constructed a traditional logistic regression (LR) and two machine learning methods, namely random forest (RF) and extreme gradient boosting (XGBoost), to distinguish stroke occurrence versus non-stroke occurrence using data on demographics, lifestyle, disease history, and clinical variables. Grid search and 10-fold cross validation were used to tune the hyperparameters. Model performance was assessed by discrimination, calibration, decision curve and predictiveness curve analysis.Results: Among the 5960 participants, 131 (2.20%) of them developed stroke after an average of 2-year follow-up. Our prediction models distinguished stroke occurrence versus non-stroke occurrence with excellent performance. The AUCs of machine learning methods (RF, 0.823[95% CI, 0.759-0.886]; XGBoost, 0.808[95% CI, 0.730-0.886]) were significantly higher than LR (0.718[95% CI, 0.649, 0.787], p<0.05). No significant difference was observed between RF and XGBoost (p>0.05). All prediction models had good calibration results, and the brier score were 0.022 (95% CI, 0.015-0.028) in LR, 0.019 (95% CI, 0.014-0.025) in RF, and 0.020 (95% CI, 0.015-0.026) in XGBoost. XGBoost had much higher net benefits within a wider threshold range in terms of decision curve analysis, and more capable of recognizing high risk individuals in terms of predictiveness curve analysis. A total of eight predictors including gender, waist-to-height ratio, dyslipidemia, glycated hemoglobin, white blood cell count, blood glucose, triglycerides, and low-density lipoprotein cholesterol ranked top 5 in three prediction models.Conclusions: Machine learning methods, especially for XGBoost, had the potential to predict stroke occurrence compared with traditional logistic regression in the older adults.
Complete adherence to antenatal care guideline during the first visit and antepartum complications in public health facilities: a prospective cohort study in Northwest Ethiopia
Authors: Seyoum Tewodros , Alemayehu Mekuriaw , Christensson Kyllike , Lindgren Helena 
Published: June 2021

Abstract
Background

Adherence to a minimum level of recommended content during the first Antenatal care (ANC) is low in Ethiopia but less is known about if there is an association between the level of adherence to focused ANC guideline and pregnancy outcomes. Therefore, the goal of this study was to examine the relationship between the level of adherence to Ethiopian ANC guidelines during the first visit and maternal complications that occur during the antepartum period.
Methods

A prospective cohort study was conducted in Gondar town public health facilities from May, 2019, to January, 2020. A total of 832 pregnant women with gestational age < 28 weeks who came for their first ANC visit were enrolled and followed until their last visit or before the commencement of labor. An 18-point checklist was used to record the level of providers’ adherence. Clients who received all the components in the ANC guideline during the first visit adhered to by the provider were considered as an exposed group. A Log-binomial model was used to examine the relationship between the level of adherence to the guideline and the risk of antenatal complications. The adjusted Relative Risk (ARR) with a 95% Confidence Interval (CI) was reported in the final model.
Result

A total of 808 pregnant women were included in the final analysis. Complete providers’ adherence was associated with a lower risk of anemia (ARR = 0.54; 95% CI: 0.31, 0.94), but with a higher risk for Pregnancy-induced hypertension (ARR = 1.71; 95% CI: 1.04, 2.81).
Conclusions

Complete providers’ adherence to the first ANC guideline influences maternal complications during antepartum period. Therefore, improving the level of adherence by the provider to the ANC guideline during the first visit is very important.
Response To Pre-Operative Corticosteroids Predicts Durable Neurologic Improvement in Patients with Symptomatic Brain Metastases
Authors: Bowden Stephen G , Ramos Christian Lopez , II Barry Cheaney , Richie Emma , Yaghi Nasser K , Munger Daniel N , Wood Matthew D , Cetas Justin S , Dogan Aclan , Raslan Ahmed M , Han Seunggu J 
Published: June 2021

Abstract
Purpose:

To determine the rate at which focal neurologic deficits respond to pre-operative corticosteroids in patients with brain metastases and whether such an improvement is predictive of long-term improvement in neurologic function following surgery.
Methods:

Patients with pathology-proven brain metastases who underwent open surgical resection between 2010 and 2019 were identified. Charts were reviewed to identify patients with deficits in language, visual field, or motor domains who received corticosteroids prior to surgery. Descriptive analysis compared characteristics between steroid responders and non-responders. Dosage and duration were binned into deciles and plotted against their corresponding response rates.
Results:

96 patients demonstrated a visual field (13 patients), language (19), or motor (64) deficit and received dexamethasone in the week prior to surgery (average cumulative dose 42.66 mg; average duration 64.5 hours). 38.5% of patients’ deficits improved on neurologic exam prior to surgery. 82.3% of patients improved by follow-up. Motor deficits were most likely to improve (46.9%; p = 0.024). All 37 responders demonstrated durable improvement at follow-up whereas 42 of 59 (71%) of non-responders ultimately improved (p < 0.001). Average dosage and duration prior to response were 17.33 mg and 23.94 hours, respectively. All other clinical characteristics were similar between responders and non-responders.
Conclusions:

A response to steroids prior to surgery predicts long-term improvement for focal neurologic deficits related to brain metastases. Lack of such a response portends a somewhat less favorable prognosis. There is no obvious association between duration or intensity of therapy and response.
Topological Characteristics Associated with Intraoperative Stimulation Related Epilepsy of Glioma Patients: A DTI Network Study
Authors: Yang Jianing , Zhou Chunyao , Liang Yuchao , Wang Yinyan , Wang Lei 
Published: June 2021

Abstract
Purpose Awake craniotomy with intraoperative stimulation has been utilized in glioma surgical resection to preserve life quality. While 5-20% of cases may occur epilepsy during the procedure which leads to severe consequences. The study aimed to discussing the mechanism of intraoperative stimulation-related epilepsy (ISE) with DTI based graph theoretical analysis.Methods 20 patients with motor-area glioma were enrolled and divided into 2 groups (Ep and nEp) according to whether there was ISE. Additionally, a group of 10 healthy participants matched by age, gender and education year were also involved. All participants underwent T1, T2 and DTI. Graph theoretical analysis was applied to reveal topological characteristics of the white matter networks. Results Three connections were found to be significantly lower in at least one weighting in Ep group. They are the connection between A1/2/3truL and A4ulL, A1/2/3truR and A4tR, and A6mL and A6mR. Global efficiency was found to be significantly decreased while the shortest path length increased in Ep group in at least one weighting. Ten nodes exhibited significant difference in the nodal efficiency and degree centrality analysis. The nodes A6mL and A6mR showed markable decrease in total four weightings in Ep group.Conclusion The hub nodes A6mL and A6mR, get disconnected in the patients with ISE, causing subsequent lower efficiency of global and regional network. The findings provide basis for presurgical assessment of ISE, for that caution should be taken when it involves hub nodes during intraoperative electrical stimulation.