bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and Molecular Findings in Early Infant Death Associated with Genetic Diseases: A Multicenter Cohort Study in China
Authors: Wang Xia , Zhu Tianwen , Gong Xiaohui , Bei Fei , Ma Li , Chen Yan , Zhao Dongying , Sun Jingjing , Wang Jian , Qiu Gang , Sun Jianhua , Sun Yu , Zhang yongjun 
Published: December 2020

Abstract
Background To investigate the impact of exome sequencing in critically ill infants and find out high-risk patients with genetic diseases for the 180-day mortality rate. Results A molecular diagnosis rate achieved in 203 of 439 (46.2%) sequenced infants. 60 of 203 (29.5%) diagnosed patients died before 180 days of life. Compared to the undiagnosed-cases, patients with genetic findings in metabolic-endocrine disorders (OR=2.89, 95% CI: 1.51-5.52), primary immunodeficiencies (OR=3.79, 95% CI: 1.25-11.53), and early-onset muscle disease (OR=6.49, 95% CI: 2.28-18.48) had high odds ratios of 180-day mortality. Based on the functions of the defective genes, infants with catalytic activity deficiency (OR=3.07, 95% CI: 1.51-6.25) and transporter activity deficiency (OR=4.15, 95% CI: 1.80-9.56) also had a high risk of 180-day mortality. Furthermore, the proportion of medical management correspondence to genetic findings increased from 22.4% to 40.3% (p=0.06), and the 180-day mortality rate decreased from 35.9% to 29.6% showing a moderate decreased trend (p trend =0.08) over 4 years.Conclusions Our study shows that patients with genetic findings in metabolic-endocrine disorders, primary immunodeficiencies and early-onset muscle disease are related to 180-day mortality, which are of great significance for improve the prognosis.
Differences in Health Care Experiences Between Rare Cancer and Common Cancer Patients: Results From a National Cross-Sectional Survey
Authors: Heus Eline de , Engelen Vivian , Dingemans Irene , Richel Carol , Schrieks Marga , Zwan Jan Maarten van der , Besselink Marc G. , Henegouwen Mark I. van Berge , Herpen Carla M.L. van , Duijts Saskia F.A. 
Published: December 2020

Abstract
Background Patients with rare cancers face challenges in the diagnostic and treatment phase, and in access to clinical expertise. Since studies on health care experiences of these patients in comparison to patients with more common cancers are scarce, we aimed to explore these differences.Methods Data were cross-sectionally collected among (former) cancer patients through a national online survey in the Netherlands (October 2019). Descriptive statistics were reported and subgroups (rare vs. common patients) were compared.Results In total, 7,343 patients (i.e., 1,856 rare and 5,487 common cancer patients) participated. Rare cancer patients were more often diagnosed and treated in different hospitals compared to common cancer patients (67% vs. 59%, p<0.001). Rare cancer patients received treatment more often in a single hospital (60% vs. 57%, p=0.014), but reported more negative experiences when treated in multiple hospitals than common cancer patients (14% vs. 9%, p<0.001). They also more often received advise from their physician about the hospital to go to for a second opinion (50% vs. 36%, p<0.001), were more likely to choose a hospital specialized in their cancer type (33% vs. 22%, p<0.001), and were more willing to travel as long as necessary to receive specialized care than common cancer patients (55% vs. 47%, p<0.001).Conclusions Rare and common cancer patients differ in their health care experiences. Health care for rare cancer patients can be further improved by proper referral to centers of expertise and building a clinical network specifically for rare cancers.
The Interoperability Between the Spanish Version of the International Classification of Diseases and ORPHAcodes: Towards Better Identification of Rare Diseases
Authors: Rico Juan , de Garibay Luis Javier Echevarría González , López María García , Vilarroig Sandra Guardiola , Roldán Luis Alberto Maceda , Zurriaga Óscar , Carbonell Clara Cavero 
Published: December 2020

Abstract
BackgroundRare diseases present a wide spectrum of clinical manifestations and severity levels, and their main common trait is the low prevalence, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versions. In Spain, the ICD-10-ES (stem from the ICD-10-CM–Clinical Modification) is used throughout the National Healthcare System since 2016, indistinctively including rare diseases that often lack a specific code. ORPHAcode aims to provide high-quality resources on rare diseases. The goal was to interrelate the ORPHAcode classification with the ICD-10-ES in order to engage a tool to track rare diseases diagnosis and characterize the improvement space for the identification of rare diseases in the Spanish Healthcare System.Methods5,775 disorder level ORPHAcodes were mapped to ICD-10-ES codes by comparing the descriptors associated in both classifications. ORPHAcodes were then clustered based on their assigned ICD-10-ES chapter and the redundancy of each individual ICD-10-ES code was calculated by counting the ORPHAcodes they mapped to. Three groups were established: Group 1 (1 ORPHAcode per ICD-10-ES), Group 2 (between 2-49 ORPHAcodes per ICD-10-ES) and Group 3 (≥50 ORPHAcodes per ICD-10-ES).ResultsEquivalences to 1,700 ICD-10-ES codes were established for 5,664 ORPHAcodes. The ORPHAcodes distribution within the ICD-10-ES showed an aggregation in the “Q” (>40%), “G” (>14%), and “E” (12%) chapters. The availability of ICD-10-ES codes to map ORPHAcodes reached its lowest at the “G” and “Q” chapters with less than 0.2 ICD-10-ES codes available per ORPHAcode. Global ICD-10-ES codes redundancy analysis revealed that only 1,055 of the equivalences pertain to group 1. Group 2 contained 3,358 equivalences with 634 ICD-10-ES codes while 1,322 equivalences were group 3 (11 ICD-10-ES). Within ICD-10-ES chapters, “G” and “Q” contained over 30% and 45% of their own equivalences in the highest redundancy level (group 3) respectively, but under 10% one to one equivalences each (group 1).Conclusions﻿ICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases.
Use of Anti-Epileptic Drugs During Adjuvant Chemo-Radiotherapy is Associated with Increased Mortality in Patients with Glioblastoma: A Nationwide Population-Based Cohort Study
Authors: Lee Peng-Yi , Chao KS Clifford , Wei Yu-Ting , Chu Chin-Nan , Chuang Hao-Che , Chung Wen-Hui , Wang Ti-Hao 
Published: December 2020

Abstract
BackgroundThere are emerging but inconsistent evidences about anti-epileptic drugs (AEDs) as radiosensitizers to improve survival in glioblastoma (GBM) patients. We conducted a population-based study to evaluate the impact of concurrent AED during post-operative chemo-radiotherapy (CCRT) on outcome.Methods1057 GBM patients were identified by National Health Insurance Research Database and Cancer Registry in 2008-2015. Eligible criteria included those receiving surgery, adjuvant RT and temozolomide (TMZ), and without other cancer diagnoses. Survival between patients taking concurrent AED for 14 days or more during CCRT (AED group) and those who did not (non-AED group) were compared, and subgroup analyses for valproic acid (VPA), levetiracetam (LEV), and phenytoin were performed. Multivariate analyses were used to adjust for confounding factors. ResultsThere were 642 patients in the AED group while 415 in the non-AED group. The demographic data was balanced except trend of more patients in the AED group had previous drug history of AEDs. (22.6% vs 18%, p=0.078). Overall, the AED group had significantly increased risk of mortality (HR=1.18, p=0.016). In subgroup analyses, the significant detrimental effect was demonstrated in VPA (HR=1.29, p=0.0002), but not in LEV (HR=1.18, p=0.079) and phenytoin (HR = 0.98, p=0.862). When stratified by sex and age, this detrimental effect was seen in male and patients less than 65 years old in the VPA group.Conclusion:Survival was not improved and even worse in patients with AEDs during CCRT in this nationwide population-based study. Our real-world data did not support prophylactic use of AEDs for GBM.
A newly isolated Cerrena unicolor capable of laccase production and lignin degradation in agricultural wastes
Authors: Tian Jiahui , Feng Jiali , Wang Ying , Lu Junhua , Mao Linjing , Chu Jie 
Published: December 2020

Abstract
Lignin is main residue of agro-industrial biomass which can be decomposed through enzymatic hydrolysis by fungi. In this study, a strain was isolated from birch forest and identified as Cerrena unicolor GC.u01 by 18S rDNA gene-sequencing technology. The activity of laccase (Lac) reached maximum 1605.28 ± 32.21 U·L-1 at 8th day via submerged fermentation, while the highest Lac activity by solid-state fermentation 1280.04 ± 48.11 U·g-1 with rice stalks and 566.83 ± 47.02 U·g-1 with wheat stalks were both obtained at 10th day, and 2677.50 ± 49.38 U·g-1 with corn stalks at 12th day. Then the lignin degradation ratios were up to 24.3%, 34.3% and 26.2% in wheat stalks, rice stalks and corn stalks, respectively, suggesting that the newly isolated Cerrena unicolor GC.u01 is potential for laccase production and lignin degradation by solid-state fermentation.
Spectrum and Clinical Characteristics of Symptomatic and Asymptomatic Coronavirus Disease 2019 (COVID-19) With and Without Pneumonia
Authors: Zeng Huihui , Ma Yiming , Zhou Zhiguo , Liu Wenlong , Huang Peng , Jiang Mingyan , Liu Qimi , Chen Ping , Luo Hong , Chen Yan 
Published: December 2020

Abstract
BackgroundCoronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global pandemic. Based on symptoms, COVID-19 cases can be classified as symptomatic or asymptomatic. However, there is limited information about the differences between COVID-19 patients with and without pneumonia. Our study aimed to further discuss the spectrum and clinical characteristics of symptomatic and asymptomatic COVID-19 patients with and without pneumonia. MethodsIn China, all COVID-19 cases are hospitalized in designated hospitals until two continuous negative oropharyngeal swabs obtained, which allows the professional monitoring of symptoms and clinical characteristics. We stratified all COVID-19 cases in our database, and evaluated clinical characteristics in different COVID-19 subgroups (symptomatic with pneumonia, symptomatic without pneumonia, asymptomatic with pneumonia and asymptomatic without pneumonia). ResultsAccording to symptoms and laboratory and radiologic findings, COVID-19 cases were defined as symptomatic with pneumonia, symptomatic without pneumonia, asymptomatic with pneumonia or asymptomatic without pneumonia. There were differences in the clinical characteristics and prognosis among the four groups. Both noninvasive (18, 4.2%) and invasive mechanical ventilation (11, 2.6%) were applied in only the symptomatic with pneumonia group. Likewise, extracorporeal membrane oxygenation (ECMO) and continuous renal replacement therapy (CRRT) were applied in only the symptomatic with pneumonia group. There were no differences in the durations of viral shedding and hospitalization among the four groups.ConclusionWe have defined a comprehensive spectrum of COVID-19 with and without pneumonia. The symptomatic with pneumonia group consumed more medical resources than the other groups, and extra caution and monitoring should be applied in this group. The asymptomatic COVID-19 group had a similar viral shedding duration as the symptomatic COVID-19 group.Trial registrationNot available
Danzhi Xiaoyao Powder Reduced the Scratching Behavior Exaggerated by Chronic Psychological Stress in Mice
Authors: Liu Ruoyi , Xu Li , Zhang Shujun , Wang Yue , Zhao Peng 
Published: December 2020

Abstract
Objective: To explore the efficacy and possible mechanism of Danzhi Xiaoyao Powder in the treatment of scratching behavior worsened by psychological factors. Methods: Male BALB/c mice were divided into control group (CON group), chronic WAS group(WAS group) and chronic WAS + Danzhi Xiaoyao Powder group(DZX group). All mice excluded control group were exposed to 1 h water avoidance stress (WAS) for ten consecutive days. DZX group were given Danzhi Xiaoyao Powder solution by intragastric administration every day, and the other two groups were given the same amount of saline. Twenty-four hours after the last stress session, the mice were injected into the back of the neck with a condensation product of N-methyl-p- methoxyphenethylamine with formaldehyde (compound 48/80), and their scratching behavior was then observed for 120 min. The scratching number was recorded, th histamine levels in the plasma were examined, and the behavioral changes of depression in mice before and after treatment were observed by open field test and forced swimming test. Results: The scratching number was significantly higher in the WAS group than in the DZX group, which still higher than in the CON group. The peak histamine in the plasma after the compound 48/80 injection were also significantly higher in the WAS group in comparison to the DZX group. In terms of depression behavior, the number of standing in the DZX group was more than that in the WAS group and less than that in the CON group, and the immobility time in the forced swimming test was less than that in the WAS group and more than that in the CON group. Conclusion: Danzhi Xiaoyao Powder can relieve the scratching behavior of mice under the influence of WAS, and its possible mechanism is to control the release of histamine and improve the depressive state of mice.
Evaluation of biventricular volume and systolic function of medium to large ventricular septal defect with pulmonary hypertension in infants aged within 1 year old by real-time three-dimensional&nbsp;echocardiography
Authors: Gao Jun , Feng Xiaoyuan , Zhou Li , Kang Jing , Meng Zhengliang , Guo Chengwen 
Published: December 2020

Abstract
Background Real-time three-dimensional volume echocardiography could obtain ventricular volume and ejection fraction rapidly and non-invasively without relying on ventricular morphology. Infants under one year of age with medium to large ventricular septal defect（VSD） and pulmonary hypertension have the characteristics of recurrent pulmonary infection and feeding difficulties. For these children, early surgery is recommended to reduce pulmonary congestion. Evaluation of biventricular volume and pumping function is important to determine the time of surgery.Methods In this study 18 children with medium to large VSD complicated with pulmonary hypertension (VSD/PH group ) and 18 healthy children of the same age (control group) were recruited. Biventricular diameter, volume and systolic function were evaluated by two-dimensional echocardiography (2DE), M-mode, tissue Doppler and real-time three-dimensional echocardiography (RT-3DE). The measurements included: left and right ventricular diameter, body surface area standardized ventricular volume (LVEDV/BSA, RVEDV/BSA), LVEF ( M-mode), TAPSE (tricuspid annulus displacement), TAV (tricuspid annulus velocity), LVEF (RT-3DE), RVEF (RT-3DE). Results Both left and right ventricular diameter and LVEDV/BSA, RVEDV/BSA were significantly larger than those in normal controls (P <0.05). Compared with normal group, LVEF (RT-3DE), RVEF (RT-3DE) and TAV in VSD/PH group decreased (P <0.05). However there were no significant difference in LVEF (M-mode) and TAPSE between the two groups (P >0.05).Conclusion RT-3DE provides a new approach for noninvasive and rapid assessment of cardiac volume and systolic function for infants with ventricular septal defect and pulmonary hypertension.
Consistent Use of Lipid Lowering Therapy in HIV Infection Is Associated with Low Mortality
Authors: Drechsler Henning J , Ayers Colby , Cutrell James , Arasaratnam Reuben , Bedimo Roger 
Published: December 2020

Abstract
Background: In people living with HIV (PLWH), statins may be disproportionately effective but remain underutilized. A large prospective trial in patients with low to moderate cardiovascular (ASCVD) risk will reveal whether they should be considered in all PLWH. But its effect size may not apply to real-world PLWH with higher ASCVD and mortality risk. Also, the clinical role of non-statin lipid-lowering therapy (LLT) and LLT adherence in this population is unknown.Methods: Comparative multi-level marginal structural model for all-cause mortality examining four time-updated exposure levels to LLT, antihypertensives, and aspirin in a virtual cohort of older PLWH. Incident coronary, cerebrovascular, and overall ASCVD events, serious infections, and new cancer diagnoses served as explanatory outcomes.Results: In 23,276 HIV-infected US-veterans who were followed for a median of 5.2 years after virologic suppression overall mortality was 33/1,000 patient years: >3 times higher than in the US population. Use of antihypertensives or aspirin was associated with increased mortality. Past LLT use (>1 year ago) had no effect on mortality. LLT exposure in the past year was associated with a reduced hazard ratio (HR) of death: 0.59, 95% confidence interval (CI) 0.51-0.69, p<0.0001 for statin containing LLT and 0.71 (CI: 0.54-0.93), p=0.03 for statin-free LLT. For consistent LLT use (>11/12 past months) the HR of death was 0.48 (CI: 0.35-0.66) for statin-only LLT, 0.34 (CI: 0.23-0.52) for combination LLT, and 0.27 (CI: 0.15-0.48) for statin-free LLT (p<0.0001 for all). The ASCVD risk in these patients was reduced in similar fashion. Use of statin containing LLT was also associated with reduced infection and cancer risk. Multiple contrasting subgroup analyses yielded comparable results. Confounding is unlikely a major contributor to our findings.Conclusions: In PLWH, ongoing LLT use may lead to substantially lower mortality, but consistent long-term adherence may be required to reduce ASCVD risk. Consistent non-statin LLT may be highly effective and should be studied prospectively.
Hypoglycemia Detection Based on ear-EEG
Authors: Cabrera Alvaro Fuentes , Kappel Simon Lind , Remvig Line Sofie , Toft Hans Olaf , Madsen Rasmus Elsborg , Kildmose Preben , Rank Mike Lind 
Published: December 2020

Abstract
Background: Hypoglycemia refers to the condition in which the blood glucose is severely below normal level. Hypoglycemia can cause diﬃculties to talk, headache, irritability, anxiety, confusion, convulsions, seizures, unconsciousness, and even death. These symptoms are a consequence of insuﬃcient supply of glucose to the brain. It has previously been demonstrated that hypoglycemia results in characteristic changes in the electroencephalographic (EEG) signals recorded from electrodes on the scalp. Scalp EEG is not suitable for continuous measurements, due to its obtrusive nature and limited capabilities for monitoring in real-life environments. The objective of this study was to asses the feasibility of detecting hypoglycemia-induced episodes using EEG signals recorded with dry-contact in-ear electrodes, which are discreet, have the potential for long-term EEG monitoring in real-life situations, and provide similar information to that recorded with scalp EEG. The data from 5 diabetic subjects were used for this study. Six ear-EEG channels recorded from dry-contact iridium oxide electrodes ﬁtted the right ear, and channels C3, Pz, T7, and T8 were used for the analysis and classiﬁcation procedures. A Support Vector Machine (SVM) with a linear kernel was used to detect the hypoglycemic episodes, using a normalized measure of the total power of the θ,α,β, and γ frequency bands as features.Results: The results showed that there were no statistical diﬀerences between the sensitivity and speciﬁcity of the contralaterally referenced scalp-scalp and ear-scalp EEG channels. Contralaterally referenced channels showed an average sensitivity over all 5 subjects ≥90%, SD≤10% and an average speciﬁcity over all 5 subjects ≥82%, SD≤24%. The sensitivities and speciﬁcities obtained with the data from the ipsilaterally referenced ear-ear EEG channels did not exceed chance level.Trial registration: ClinicalTrials.gov NCT03022058. Registered 13 December 2016 https://clinicaltrials.gov/ct2/show/NCT03022058?term=uneeg&draw=3&rank=12.
Dose- and Time-Dependent Systemic Adverse Reactions of Sodium Carboxy Methyl Cellulose after Intraperitoneal Application in Rats
Authors: Fan Chunguang , Hou Li , Che Guoxi , Shi Yanping , Liu Xiangdong , Sun Likui , Jia Wensi , Zhu Fuyu , Zhao Zenglin , Xu Ming , Gai Xiaoxiao , Liu Chenghu 
Published: December 2020

Abstract
Background: Sodium carboxy methyl cellulose (SCMC) is an important absorbable biomaterial for anti-adhesion and hemostasis medical devices used in the abdominal cavity. However, the systemic toxicity of SCMC following intraperitoneal route has not been revealed sufficiently. Results: 3 SCMC solutions with gradient concentrations were intraperitoneally injected into 3 group rats respectively all at once to observe the dose-dependence of systemic reactions of SCMC and 10 rats of each group were sacrificed 3d, 7d, 28d and 90d after injection to evaluate the time-dependence of the reactions. A range of adverse effects were shown in rats of high-dose(2000mg/kg) group which were found varied with time extending and virtually disappeared 90 days after injection. Slight reactions were observed in medium-dose(320mg/kg) group while negligible effects were found in low-dose(50mg/kg) group. Conclusion: The intraperitoneal application of SCMC can induce reversible systemic adverse effects to rats at the dose higher than 320mg/kg and it is essential to take both dose- and time-dependent effects into account while designing a systemic toxicity study for absorbable biomaterials.
Establishment and validation of prognostic nomograms integrating histopathological features in patients with invasive endocervical adenocarcinoma
Authors: Liu Li-Li , Chen Shu-Lin , Yang Xia , Li Yue , Zhang Shi-Wen , Wen Yan-Lin , Luo Rong-Zhen 
Published: December 2020

Abstract
Background

To develop and verify pathological models using pathological features basing on hematoxylin and eosin (H&E) images to predict postoperative survival in patients with invasive endocervical adenocarcinoma (ECA).
Method:

There were 289 patients with ECA classified into training and validation cohorts. A histological signature was produced in 191 patients and verified in the validation group. Histological models combining the histological features were built. They showed increased value compared to the conventional model in terms of individualized prognosis estimation.
Results

Our model included five selected histological characteristics and was significantly related to overall survival (OS). In the training cohort, it had AUC values of 0.862 and 0.955, respectively, for predicting 3- and 5-year survival; in the validation cohort, the equivalent values were 0.891 and 0.801. In the training cohort, it showed better OS evaluation (C-index: 0.832; 95% confidence interval [CI] = 0.751–0.913) than both the FIGO staging system (C-index: 0.648; 95% CI = 0.542–0.753) and treatment (C-index: 0.687; 95% CI = 0.605–0.769), with advanced efficiency for classifying survival outcomes. In both cohorts, a risk stratification system was built that could precisely stratify patients with stage I and II ECA into high-risk and low-risk subpopulations with significantly different prognoses.
Conclusion

Our nomogram with five histological signatures had better accuracy in the prediction of OS in patients with ECA. This may contribute to the development of precision medicine in such patients.