bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effects of School Closures Resulting From COVID-19 in Autistic and Neurotypical Children
Authors: Genova Helen M. , Arora Aditi , Botticello Amanda L. 
Published: November 2021

The purpose of this study was to assess differences in negative consequences resulting from pandemic-related school closures between autistic and neurotypical children. We predicted that more negative consequences overall would be reported for children with autism compared to neurotypical children. We also expected to observe differences in the types of stressors reported between these two groups, with disruptions to daily routines more commonly reported for children with autism and stress due to social isolation more commonly reported for neurotypical children. Participants were parents of school-aged children, ages of 4–15 years old, who responded to an online survey (N = 250). Parental perspectives were collected using the Covid-19 Adolescent Symptom and Psychological Experience Questionnaire (CASPE). Parents in the autism group were additionally asked to respond to a survey about autism-specific stressors which may have increased during the pandemic, such as behavioral concerns, therapy disruptions, and hygiene issues. The majority of the respondents (65%) were parents of children with autism and 35% were parents of neurotypical children. Parents of autistic children were more likely to report that their child was negatively affected by routine changes, whereas parents of neurotypical children were more likely to report that their child was affected by social isolation. Overall, parents of children with autism were more than three times as likely to report negative changes in their child compared to parents of neurotypical children. When asked about autism-specific stressors, parents of autistic children reported concerns related to hygiene, behavioral regression, therapy disruption, meltdowns, and returning to school. The effects of the COVID-19 pandemic and prolonged school closures have disrupted the lives of children. Our results indicate that children with autism are at greater risk for negative outcomes due to emergency-related school disruptions. These findings have implications for educational planning for this vulnerable population for future public health crises.
Decreased DNA Repair Ability: A Mechanism for Low Early Embryonic Development Potential of Oocytes From Overweight Patients After Fertilization in IVF Cycles
Authors: Li Hui , Wang Huan , Zhu Jing , Xu Jianmin , Jiang Yuqing , Chen Wenhui , Sun Yingpu , Yang Qingling 
Published: November 2021

BackgroundWhether female BMI impacts the DNA repair ability in the oocytes after fertilization has not been investigated. The aim of this study is to assess the early embryo quality and reproductive outcomes of oocytes from overweight women when fertilized with sperm with varying degrees of DNA fragmentation.MethodsA total number of 1,612 patients undergoing fresh autologous in vitro fertilization (IVF) cycles was included. These patients were divided into two groups according to maternal body mass index (BMI): normal weight group (18.5–24.9 kg/m2; n=1187; 73.64%) and overweight group (≥25 kg/m2; n=425; 26.36%). Each group was then subdivided into two groups by sperm DNA fragmentation index (DFI): low fragmentation group (&lt;20% DFI, LF) and high fragmentation group (≥20% DFI, HF). Laboratory and clinical outcomes were compared between subgroups.ResultsFor the normal-weight group, there was no statistical significance in embryo quality and reproductive outcomes between the LF and HF groups. But in the overweight group, significantly lower fertilization rate (LF: 64%; HF: 59%; p=0.011), blastocyst development rate (LF: 57%; HF: 44%; p=0.001), as well as high-quality blastocyst rate (LF: 32%; HF: 22%; p=0.034) were found in the HF group, despite the similar pregnancy rates (LF: 56%; HF: 60%; p=0.630).ConclusionsDecreased DNA repair activity in oocytes may be a possible mechanism for the low early development potential of embryos from overweight patients in in vitro fertilization cycles.
Prediction of Treatment Response According to ASAS-EULAR Management Recommendations in 1 Year for Hip Involvement in Axial Spondyloarthritis Based on MRI and Clinical Indicators
Authors: Xie Zhuoyao , Lu Zixiao , Chen Hao , Ye Qiang , Guo Chang , Zheng Kai , Li Xin , Xie Qiuxia , Hu Shaoyong , Zhou Quan , Zhao Yinghua 
Published: November 2021

BackgroundTo predict the treatment response for axial spondyloarthritis (axSpA) with hip involvement in 1 year based on MRI and clinical indicators.MethodsA total of 77 axSpA patients with hip involvement (60 males; median age, 25 years; interquartile, 22–31 years old) were treated with a drug recommended by the Assessment of SpondyloArthritis international Society and the European League Against Rheumatism (ASAS-EULAR) management. They were prospectively enrolled according to Assessment in SpondyloArthritis international Society (ASAS) criteria. Clinical indicators, including age, gender, disease duration, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), were collected at baseline and in 3 months to 1-year follow-up. Treatment response was evaluated according to ASAS response criteria. MRI indicators consisting of bone marrow edema (BME) in acetabulum and femoral head, hip effusion, fat deposition, thickened synovium, bone erosion, bone proliferation, muscle involvement, enthesitis and bony ankylosis were assessed at baseline. Spearman’s correlation analysis was utilized for indicator selection. The selected clinical and MRI indicators were integrated with previous clinical knowledge to develop multivariable logistic regression models. Receiver operator characteristic curve and area under the curve (AUC) were used to assess the performance of the constructed models.ResultsThe model combining MR indicators comprising hip effusion, BME in acetabulum and femoral head and clinical indicators consisting of disease duration, ESR and CRP yielded AUC values of 0.811 and 0.753 for the training and validation cohorts, respectively.ConclusionThe model combining MRI and clinical indicators could predict treatment response for axSpA with hip involvement in 1 year.
Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia
Authors: Wang Jian , Zhou Shiyuan , He Fei , Zhang Xuelian , Lu Jianqi , Zhang Jian , Zhang Feng , Xu Xiangmin , Yang Fang , Xiong Fu 
Published: November 2021

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.
Major Neutrophil-Derived Soluble Mediators Associate With Baseline Lung Pathology and Post-Treatment Recovery in Tuberculosis Patients
Authors: Muefong Caleb Nwongbouwoh , Owolabi Olumuyiwa , Donkor Simon , Charalambous Salome , Mendy Joseph , Sey Isatou C. M. , Bakuli Abhishek , Rachow Andrea , Geldmacher Christof , Sutherland Jayne S. 
Published: November 2021

BackgroundThe inflammatory response toMycobacterium tuberculosisresults in variable degrees of lung pathology during active TB (ATB) with central involvement of neutrophils. Little is known about neutrophil-derived mediators and their role in disease severity at baseline and recovery upon TB treatment initiation.Methods107 adults with confirmed pulmonary TB were categorised based on lung pathology at baseline and following successful therapy using chest X-ray scores (Ralph scores) and GeneXpert bacterial load (Ct values). Plasma, sputum, and antigen-stimulated levels of MMP1, MMP3, MMP8, MMP9, MPO, S100A8/9, IL8, IL10, IL12/23(p40), GM-CSF, IFNγ, and TNF were analysed using multiplex cytokine arrays.ResultsAt baseline, neutrophil counts correlated with plasma levels of MMP8 (rho = 0.45, p = 2.80E−06), S100A8 (rho = 0.52, p = 3.00E−08) and GM-CSF (rho = 0.43, p = 7.90E−06). Levels of MMP8 (p = 3.00E−03), MMP1 (p = 1.40E−02), S100A8 (p = 1.80E−02) and IL12/23(p40) (p = 1.00E−02) were associated with severe lung damage, while sputum MPO levels were directly linked to lung damage (p = 1.80E−03), Mtb load (p = 2.10E−02) and lung recovery (p = 2.40E−02). Six months of TB therapy significantly decreased levels of major neutrophil-derived pro-inflammatory mediators: MMP1 (p = 4.90E−12 and p = 2.20E−07), MMP8 (p = 3.40E−14 and p = 1.30E−05) and MMP9 (p = 1.60E−04 and p = 1.50E−03) in plasma and sputum, respectively. Interestingly, following H37Rv whole cell lysate stimulation, S100A8 (p = 2.80E−02), MMP9 (p = 3.60E−02) and MPO (p = 9.10E−03) levels at month 6 were significantly higher compared to baseline. Sputum MMP1 (p = 1.50E−03), MMP3 (p = 7.58E−04), MMP9 (p = 2.60E−02) and TNF (p = 3.80E−02) levels were lower at month 6 compared to baseline in patients with good lung recovery.ConclusionIn this study, patients with severe lung pathology at baseline and persistent lung damage after treatment were associated with higher plasma and sputum levels of major pro-inflammatory neutrophil-derived mediators. Interestingly, low sputum MPO levels were associated with severe lung damage, higher Mtb burden and low recovery. Our data suggest that therapeutic agents which target these mediators should be considered for future studies on biomarkers and host-directed therapeutic approaches against TB-related lung pathology and/or lung recovery.
Plasma MicroRNA Signature Panel Predicts the Immune Response After Antiretroviral Therapy in HIV-Infected Patients
Authors: Lv Jun-Nan , Li Jia-Qi , Cui Ying-Bin , Ren Yuan-Yuan , Fu Ya-Jing , Jiang Yong-Jun , Shang Hong , Zhang Zi-Ning 
Published: November 2021

BackgroundApproximately 10–40% of people with human immunodeficiency virus (HIV) infection are unable to obtain successful improvements in immune function after antiretroviral therapy (ART). These patients are at greater risk of developing non-acquired immunodeficiency syndrome (AIDS)-related conditions, with the accompanying increased morbidity and mortality. Discovering predictive biomarkers can help to identify patients with a poor immune response earlier and provide new insights into the mechanisms of this condition.MethodsA total of 307 people with HIV were enrolled, including 110 immune non-responders (INRs) and 197 immune responders (IRs). Plasma samples were taken before ART, and quantities of plasma microRNAs (miRNAs) were determined using reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR). Candidate biomarkers were established through four phases: discovery, training, validation, and blinded test. Binary logistic regression was used to analyze the combined predictive capacity of the identified miRNAs. The effect of one miRNA, miR-16-5p, on T cell function was assessed in vitro.ResultsExpression of five miRNAs (miR-580, miR-627, miR-138-5p, miR-16-5p, and miR-323-3p) was upregulated in the plasma of INRs compared with that in IRs. Expression of these miRNAs was negatively correlated with both CD4+ T cell counts and the increase in the proportion of CD4+ T cells after one year of ART. These five miRNAs were combined in a predictive model, which could effectively identify INRs or IRs. Furthermore, we found that miR-16-5p inhibits CD4+ T cell proliferation by regulating calcium flux.ConclusionWe established a five-miRNA panel in plasma that accurately predicts poor immune response after ART, which could inform strategies to reduce the incidence of this phenomenon and improve the clinical management of these patients.
Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex
Authors: Luo Cong , Ye Wen-Rui , Zu Xiong-Bin , Chen Min-Feng , Qi Lin , Li Yang-Le , Cai Yi 
Published: November 2021

Objective: To assess the safety and efficacy of low-dose everolimus maintenance therapy for tuberous sclerosis complex-related renal angiomyolipoma (TSC-RAML) patients that had previously undergone standard-dose treatment for a minimum of 6 months.Materials and Methods: In total, 24 patients with a definitive TSC diagnosis were enrolled from April 2018 – April 2019 at Xiangya Hospital, Central South University. All patients underwent low-dose everolimus maintenance therapy following standard-dose everolimus induction therapy for a minimum of 6 months. Patients additionally underwent TSC1/TSC2 genetic testing, And they were followed-up at 3, 6, 12, 18, and 24 months. The Response Evaluation Criteria in Solid Tumors (RECIST, version 1.1) criteria were used to monitor patient RAML responses, while adverse events (AEs) were assessed as per the National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE, version 4.0). P &lt; 0.05 was the significance level for all analyses, which were performed using SPSS 19.0.Results: TSC1/TSC2 gene mutations were present in all 24 patients, all of whom achieved a significant reduction in TSC-RAML volume within the initial 6-month induction therapy period, and exhibited volume stabilization during the low-dose maintenance therapy treatment period without any instances of TSC-RAML regrowth. Adverse events (AEs) were significantly less severe and less frequent over the course of maintenance therapy relative to standard therapy.Conclusions: Low-dose everolimus maintenance therapy represents an effective approach to achieving TSC-RAML control following a minimum of 6 months of full-dose induction therapy, and may be associated with decreases in everolimus-related AE frequency and severity.
Clinical Features of Early Stage COVID-19 in a Primary Care Setting
Authors: Kawatani Yohei , Nakayama Kei , Sawamura Atsushi , Fujikawa Koichi , Nagai Motoki , Hori Takaki 
Published: November 2021

Background: The coronavirus disease 2019 (COVID-19) pandemic remains a global healthcare crisis. Nevertheless, the majority of COVID-19 cases involve mild to moderate symptoms in the early stages. The lack of information relating to these cases necessitates further investigation.Methods: Patients visiting the outpatient clinic at the Kamagaya General Hospital were screened by interview and body temperature check. After initial screening, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection was suspected in 481 patients who then underwent blood tests and the loop-mediated isothermal amplification (LAMP) test for SARS-CoV-2. Clinical characteristics between positive and negative SARS-CoV-2 groups were compared. Further, the novel predictive value of routine blood test results for SARS-CoV-2 infection was evaluated using ROC analysis.Results: A total of 15,560 patients visited our hospital during the study period. After exclusion and initial screening by interview, 481 patients underwent the LAMP test and routine blood tests. Of these patients, 69 (14.3%) were positive for SARS-CoV-2 and diagnosed with COVID-19 (positive group), and 412 (85.7%) were negative (negative group). The median period between the first onset of symptoms and visit to our hospital was 3.4 and 2.9 days in the negative and positive groups, respectively. Cough (p = 0.014), rhinorrhea (p = 0.039), and taste disorders (p &lt; 0.001) were significantly more common in the positive group, while gastrointestinal symptoms in the negative group (p = 0.043). The white blood cell count (p &lt; 0.001), neutrophil count (p &lt; 0.001), and percentage of neutrophils (p &lt; 0.001) were higher in the negative group. The percentage of monocytes (p &lt; 0.001) and the levels of ferritin (p &lt; 0.001) were higher in the positive group. As per the predictive values for COVID-19 using blood tests, the values for the area under the curve for the neutrophil-to-monocyte ratio (NMR), white blood cell-to-hemoglobin ratio (WHR), and the product of the two (NMWH) were 0.857, 0.837, and 0.887, respectively.Conclusion: Symptoms in early stage COVID-19 patients were similar to those in previous reports. Some blood test results were not consistent with previous reports. NMR, WHR, and NMWH are novel diagnostic scores in early-stage mild-symptom COVID-19 patients in primary care settings.
A Prospective Phase II Study of Simultaneous Modulated Accelerated Radiotherapy Concurrently With CDDP/S1 for Esophageal Squamous Cell Carcinoma in the Elderly
Authors: Guo SuPing , Liu FangJie , Liu Hui , Wu YingJia , Zhang XuHui , Ye WenFeng , Luo GuangYu , Li QiWen , Chen NaiBin , Hu Nan , Wang Bin , Zhang Jun , Lin MaoSheng , Feng HuiXia , Qiu Bo 
Published: November 2021

BackgroundTo explore the efficacy and toxicity of simultaneous modulated accelerated radiotherapy (SMART) concurrently with cisplatin (CDDP) and S1 (tegafur/gimeracil/oteracil) in elderly patients with esophageal squamous cell carcinoma (ESCC).MethodsThis single-arm, phase II study enrolled pathologically confirmed, stage II–IVa ESCC of 70–80 years old and Eastern Cooperative Oncology Group performance status (ECOG PS) 0–2. Patients received SMART (64 Gy to gross tumor volume and 48 Gy to clinical target volume in 30 fractions) with concurrent CDDP (day 1 of each week) and S1 (days 1–14, 22–35). The primary endpoint was objective response rate (ORR). The secondary endpoints included progression-free survival (PFS), overall survival (OS) and toxicities.ResultsThirty-seven eligible patients were analyzed with median follow-up of 25.7 months for all and 46.1 months for survivors. The ORR was 88.9%. Patients with baseline weight loss &lt;5% (p=0.050) and nutritional risk index (NRI) ≥105.2 (p=0.023) had better tumor response. Median PFS was 13.8 months with 2-year PFS of 37.5%. Median OS was 27.7 months with 2-year OS of 57.5%. OS was significantly associated with ECOG PS (p=0.005), stage (p=0.014), gross tumor volume (p=0.004), baseline NRI (p=0.036), baseline C-reactive protein (CRP) level (p=0.003) and tumor response (p=0.000). CRP level (p=0.016) and tumor response (p=0.021) were independently prognostic of OS. ≥grade 3 anemia, neutropenia and thrombocytopenia occurred in 2.7%, 10.8% and 13.5% of patients; ≥grade 3 esophagitis and pneumonitis occurred in 18.9% and 2.7% of patient, respectively.ConclusionSMART concurrently with CDDP/S1 yielded satisfactory response rate, survival outcome and tolerable treatment-related toxicities in elderly patients with ESCC. Further studies are warranted to validate the results.
Multiple Survival Outcome Prediction of Glioblastoma Patients Based on Multiparametric MRI
Authors: Wang Bin , Zhang Shan , Wu Xubin , Li Ying , Yan Yueming , Liu Lili , Xiang Jie , Li Dandan , Yan Ting 
Published: November 2021

PurposeConstruction of radiomics models for the individualized estimation of multiple survival stratification in glioblastoma (GBM) patients using the multiregional information extracted from multiparametric MRI that could facilitate clinical decision-making for GBM patients.Materials and MethodsA total of 134 eligible GBM patients were selected from The Cancer Genome Atlas. These patients were separated into the long-term and short-term survival groups according to the median of individual survival indicators: overall survival (OS), progression-free survival (PFS), and disease-specific survival (DSS). Then, the patients were divided into a training set and a validation set in a ratio of 2:1. Radiomics features (n = 5,152) were extracted from multiple regions of the GBM using multiparametric MRI. Then, radiomics signatures that are related to the three survival indicators were respectively constructed using the analysis of variance (ANOVA) and the least absolute shrinkage and selection operator (LASSO) regression for each patient in the training set. Based on a Cox proportional hazards model, the radiomics model was further constructed by combining the signature and clinical risk factors.ResultsThe constructed radiomics model showed a promising discrimination ability to differentiate in the training set and validation set of GBM patients with survival indicators of OS, PFS, and DSS. Both the four MRI modalities and five tumor subregions have different effects on the three survival indicators of GBM. The favorable calibration and decision curve analysis indicated the clinical decision value of the radiomics model. The performance of models of the three survival indicators was different but excellent; the best model achieved C indexes of 0.725, 0.677, and 0.724, respectively, in the validation set.ConclusionOur results show that the proposed radiomics models have favorable predictive accuracy on three survival indicators and can provide individualized probabilities of survival stratification for GBM patients by using multiparametric and multiregional MRI features.
Central Multifocal Choroiditis: Platelet Granularity as a Potential Marker for Treatment With Steroid-Sparing Immunomodulatory Therapy
Authors: de Groot Evianne L. , Ossewaarde-van Norel Jeannette , Hoefer Imo E. , Haitjema Saskia , de Boer Joke H. , Kuiper Jonas J. W. 
Published: November 2021

PurposeWe aimed to evaluate the blood cell composition in patients with central multifocal choroiditis (cMFC), a rare form of posterior uveitis predominantly affecting young myopic women.MethodsIn this retrospective observational case-control study, a 104-parameter automated hematocytometry was conducted by the Cell-Dyn Sapphire hematology analyzer for 122 cases and 364 age- and sex-matched controls. Cox proportional regression analysis was used to assess the relation between the blood cell composition and the time between disease onset (first visit) and the start of systemic corticosteroid-sparing immunomodulatory therapy (IMT).ResultsAt a false discovery rate of 5% (Padj), we identified a decrease of blood monocytes in cases with cMFC, which could be attributed to disease activity. Cox proportional hazard analysis including age and sex revealed that increased platelet granularity (measured by mean intermediate angle scatter) was an independent risk factor for treatment with IMT (hazard ratio = 2.3 [95% confidence interval = 1.28 - 4.14], Padj = 0.049). The time between the first presentation and the start of IMT was 0.3 years in the group with an increased platelet granularity and 3.4 years in the group without increased platelet granularity.ConclusionsPatients with cMFC demonstrated a decrease in blood monocytes. Moreover, platelet granularity could potentially be used as a marker for treatment with IMT.