bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation
Authors: Candelo Estephania , Sanz Ana Maria , Ramirez-Montaño Diana , Diaz-Ordoñez Lorena , Granados Ana Maria , Rosso Fernando , Nevado Julian , Lapunzina Pablo , Pachajoa Harry 
Published: March 2021

IntroductionFlaviviridae family belongs to the Spondweni serocomplex, which is mainly transmitted by vectors from the Aedes genus. Zika virus (ZIKV) is part of this genus. It was initially reported in Brazil in December 2014 as an unknown acute generalized exanthematous disease and was subsequently identified as ZIKV infection. ZIKV became widespread all over Brazil and was linked with potential cases of microcephaly.Case reportWe report a case of a 28-year-old Colombian woman, who came to the Obstetric Department with an assumed conglomerate of fetal abnormalities detected via ultrasonography, which was performed at 29.5 weeks of gestation. The patient presented with multiple abnormalities, which range from a suggested Arnold–Chiari malformation, compromising the lateral and third ventricles, liver calcifications, bilateral pyelocalic dilatations, other brain anomalies, and microcephaly. At 12 weeks of gestation, the vertical transmission of ZIKV was suspected. At 38.6 weeks of gestation, the newborn was delivered, with the weight in the 10th percentile (3,180 g), height in the 10th percentile (48 cm), and cephalic circumference under the 2nd percentile (31 cm). Due to the physical findings, brain magnetic resonance imaging (MRI) was performed, revealing a small and deviated brain stem, narrowing of the posterior fossa, a giant posterior fossa cyst with ventricular dilatation, a severe cortical and white matter thinning, cerebellar vermis with hypoplasia, and superior and lateral displacement of the cerebellum. In addition, hydrocephalus was displayed by the axial sequence, and the cerebral cortex was also compromised with lissencephaly. Schizencephaly was found with left frontal open-lip, and no intracranial calcifications were found. Two novel heterozygous nonsense mutations were identified using whole-exome sequencing, and both are located in exon 8 under the affection of ZIKV congenital syndrome (CZS) that produced a premature stop codon resulting in the truncation of the cyclin-dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) protein.ConclusionWe used molecular and microbiological assessments to report the initial case of vertically transmitted ZIKV infection with congenital syndrome associated with a neurological syndrome, where a mutation in the CDK5RAP2 gene was also identified. The CDK5RAP2 gene encodes a pericentriolar protein that intervenes in microtubule nucleation and centriole attachment. Diallelic mutation has previously been associated with primary microcephaly.
Study on Flame Retardancy and Mechanism of Talc Composite Foams
Authors: Li Xiujuan , Guo Ruisong , Qian Xiaodong 
Published: March 2021

Under high temperature, aqueous film forming foam extinguishing agent has poor flame retardancy and low fire efficiency. In order to solve this problem, talc was introduced into foam to form composite foam. The fire resistance and fire extinguishing properties of the composite foam were studied. The results showed that talc composite foam had good flame retardant resistance. when the concentration of talc reached 40 g/100 ml, the 50% liquid separation time of the composite foam was 21.1 min. The fuel burning in the anti burning tank did not ignite the gasoline in the oil pan, and burned out at 51.5 min. It was related to the structure of composite foam and the properties of talc. Due to the introduction of talc, the viscosity of the composite foam increased. The network structure of composite foam was important to the improved stability of foam. Talc powder formed a dense layer covering the oil surface, which effectively isolated the oil from the air.
Risk Signature Related to Immunotherapy Reaction of Hepatocellular Carcinoma Based on the Immune-Related Genes Associated With CD8+ T Cell Infiltration
Authors: Zou Yiping , Chen Zhihong , Han Hongwei , Ruan Shiye , Jin Liang , Zhang Yuanpeng , Chen Zhengrong , Ma Zuyi , Lou Qi , Shi Ning , Jin Haosheng 
Published: March 2021

Background: Hepatocellular carcinoma (HCC) is the most common histological type of liver cancer, with an unsatisfactory long-term survival rate. Despite immune checkpoint inhibitors for HCC have got glories in recent clinical trials, the relatively low response rate is still a thorny problem. Therefore, there is an urgent need to screen biomarkers of HCC to predict the prognosis and efficacy of immunotherapy.Methods: Gene expression profiles of HCC were retrieved from TCGA, GEO, and ICGC databases while the immune-related genes (IRGs) were retrieved from the ImmPort database. CIBERSORT and WGCNA algorithms were combined to identify the gene module most related to CD8+ T cells in the GEO cohort. Subsequently, the genes in hub modules were subjected to univariate, LASSO, and multivariate Cox regression analyses in the TCGA cohort to develop a risk signature. Afterward, the accuracy of the risk signature was validated by the ICGC cohort, and its relationships with CD8+ T cell infiltration and PDL1 expression were explored.Results: Nine IRGs were finally incorporated into a risk signature. Patients in the high-risk group had a poorer prognosis than those in the low-risk group. Confirmed by TCGA and ICGC cohorts, the risk signature possessed a relatively high accuracy. Additionally, the risk signature was demonstrated as an independent prognostic factor and closely related to the CD8+ T cell infiltration and PDL1 expression.Conclusion: A risk signature was constructed to predict the prognosis of HCC patients and detect patients who may have a higher positive response rate to immune checkpoint inhibitors.
ALDH1A1 Genetic Variations May Modulate Risk of Parkinson’s Disease in Han Chinese Population
Authors: Fan Hui-Hui , Guo Qing , Zheng Jing , Lian Yi-Zhi , Huang Shi-Shi , Sun Yue , Zou Ming , Zhu Jian-Hong , Zhang Xiong 
Published: March 2021

Background: Studies in animal models have suggested that aldehyde dehydrogenase 1 (encoded by ALDH1A1) protects against Parkinson’s disease (PD) by reducing toxic metabolites of dopamine. Herein we aimed to investigate whether ALDH1A1 was genetically associated with PD susceptibility in humans.Methods: A Han Chinese population of 1,039 subjects was recruited to analyze six tag-single nucleotide polymorphisms (SNPs), followed by haplotype analyses and variants interaction analyses. Real-time PCR was used to analyze mRNA levels of ALDH1A1 in peripheral blood of 42 subjects.Results: The tag-SNP rs7043217 of ALDH1A1 was significantly associated with PD susceptibility with the T serving as a risk allele (genotype frequency, P = 0.030; allele frequency, P = 0.013, OR = 1.258, 95% CI = 1.050–1.508). Multiple haplotypes were linked to abnormalities of PD risk, topped by a 4-SNP GGTA module in the order of rs4646547, rs1888202, rs7043217, and rs647880 (P = 9.610 × 10–8, OR = 6.420, 95% CI = 2.944–13.998). Interaction analyses showed that a simultaneous presence of the CC genotype of rs7043217 and the TT genotype of ALDH2 variant rs4767944 conferred an elevated protection against PD (P = 4.68 × 10–4, OR = 0.378, 95% CI = 0.219–0.652). The mRNA expression of ALDH1A1 showed a trend of reduction (P = 0.084) in PD patients compared to the controls.Conclusion: Our results provide novel genetic insights into the role of ALDH1 in PD pathogenesis.
Laminar Profile of Auditory Steady-State Response in the Auditory Cortex of Awake Mice
Authors: Li Zijie , Li Jinhong , Wang Shuai , Wang Xuejiao , Chen Jingyu , Qin Ling 
Published: March 2021

ObjectiveAuditory steady-state response (ASSR) is a gamma oscillation evoked by periodic auditory stimuli, which is commonly used in clinical electroencephalographic examination to evaluate the neurological functions. Though it has been suggested that auditory cortex is the origin of ASSR, how the laminar architecture of the neocortex contributes to the ASSR recorded from the brain surface remains unclear.MethodsWe used a 16-channel silicon probe to record the local field potential and the single-unit spike activity in the different layers of the auditory cortex of unanesthetized mice. Click-trains with a repetition rate at 40-Hz were present as sound stimuli to evoke ASSR.ResultsWe found that the LFPs of all cortical layers showed a stable ASSR synchronizing to the 40-Hz click stimuli, while the ASSR was strongest in the granular (thalamorecipient) layer. Furthermore, time-frequency analyses also revealed the strongest coherence between the signals recorded from the granular layer and pial surface.ConclusionOur results reveal that the 40-Hz ASSR primarily shows the evoked gamma oscillation of thalamorecipient layers in the neocortex, and that the ASSR may be a biomarker to detect the cognitive deficits associated with impaired thalamo-cortical connection.
Cardiometabolic Changes in Response to a Calorie-Restricted DASH Diet in Obese Older Adults
Authors: Perry Cydne A. , Van Guilder Gary P. , Hossain Mosharraf , Kauffman Alyssa 
Published: March 2021

Objective:To examine the response of a calorie-restricted Dietary Approaches to Stop Hypertension diet on indicators of cardiometabolic health in a cohort of sedentary obese older adults.Design:This was a controlled-feeding trial with a parallel design. Each participant consumed either 3 oz (85 g;n= 15) or 6 oz (170.1 g;n= 13) of lean fresh beef within a standardized calorie-restricted DASH-like diet for 12-weeks. Fasted blood samples were collected and used to measure conventional biomarkers of cardiovascular, metabolic and inflammatory health.Participants:Caucasian older (70.8 years), obese (BMI: 32 ± 6.9 kg/m2; WC: 101 ± 16.4 cm) females (n= 17) and males (n= 11) from the rural community of Brookings, South Dakota.Results:28 participants completed the 12-week feeding trial, with no differences (p&gt; 0.05) among the biomarkers of cardiometabolic health between the 3 and 6 oz beef intake groups. However, when the beef intake groups were combined, all biomarkers changed concentration in response to the intervention diet. Total cholesterol (p&lt; 0.001), LDL-C (p= 0.004), HDL-C (p&lt; 0.0001), insulin (p= 0.014), glucose (p= 0.008), HOMA-IR (p&lt; 0.05), IL-12 (p&lt; 0.001), and CRP (p= 0.006) all decreased in response to the study diet. IGF-1 (p&lt; 0.001) and IL-8 (p= 0.005) increased in response to the intervention. Correlations among cardiometabolic biomarkers and body composition measures were observed. By study end, the decrease in insulin (R2= 0.22;P= 0.012) and HOMA-IR (R2= 0.22;P= 0.01) was positively correlated with the decrease in waist circumference. The increase in IGF-1 was significantly correlated with the decrease in waist circumference (R2= 0.21;p= 0.014). The increase in IGF-1 was significantly correlated with the increase in sit-to-stand (R2= 0.21;p= 0.016). The increase in IL-8 was significantly correlated with decreases in total cholesterol (R2= 0.24;P= 0.008), LDL-C (R2= 0.17;P= 0.031) and glucose (R2= 0.44;P= 0.0001).Conclusions:These findings suggest that a DASH-like diet with restricted calories may potentially improve biomarkers of cardiometabolic health in sedentary obese older adults. These results also point to interrelationships between body composition changes and changes in cardiometabolic biomarkers. Lastly, regardless of meat intake amount, positive impacts on cardiometabolic biomarkers were observed in this cohort of older adults with an obese phenotype.
FAT3 Mutation Is Associated With Tumor Mutation Burden and Poor Prognosis in Esophageal Cancer
Authors: Guo Zixin , Yan Xin , Song Congkuan , Wang Qingwen , Wang Yujin , Liu Xiao-Ping , Huang Jingyu , Li Sheng , Hu Weidong 
Published: March 2021

ObjectiveTo explore the mutated genes in esophageal cancer (ESCA), and evaluate its relationship with tumor mutation burden (TMB) and prognosis of ESCA, and analyze the advantages of FAT3 as a potential prognostic marker in ESCA.MethodsThe somatic mutation landscape was analyzed according to ESCA samples from the TCGA and ICGC database. The differences of TMB between mutant type and wild type of frequently mutated genes were compared by Mann-Whitney U test. The association of gene mutations with prognosis was analyzed by Kaplan-Meier method. The relative abundance of 22 tumor-infiltrating lymphocyte subsets in ESCA was calculated by CIBERSORT algorithm.ResultsFAT3 was a high frequency mutation in both TCGA and ICGC samples from the somatic mutation landscape. Then, the mutation type of FAT3 had significantly higher TMB in patients with ESCA compared the wild type (P&lt;0.05). Meanwhile, the prognosis of FAT3 mutation type was significantly worse in patients with ESCA(P&lt;0.05), and the FAT3 mutation status might be an independent factor for prognosis of patients with ESCA (HR: 1.262–5.922, P=0.011). The GSEA analysis revealed the potential mechanism of FAT3 mutation on the occurrence and development of ESCA. Finally, naive B cells were significantly enriched in FAT3 mutation samples of the ESCA microenvironment (P&lt;0.05).ConclusionsFAT3 mutation is related to TMB and poor prognosis in ESCA. FAT3 mutation may be a prognostic marker of ESCA, and reveal the potential mechanism of FAT3 mutation on ESCA.
Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
Authors: Kang Pengjiang , Zhang Weihua , Wen Jinquan , Zhang Jiming , Li Fei , Sun Wuxia 
Published: March 2021

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5 years of age was admitted to the Pediatric Hematology Department of Xianyang Caihong Hospital in June 2019. The patient had severe anemia, acupoint-size bleeding spots, and a few ecchymoses all over her body, as well as astigmatism and hyperopia. Hearing was normal. The patient had diabetes. Bone marrow biopsy suggested a myelodysplastic syndrome. The patient had a c.515G&gt;A (p.G172D) homozygous mutation of SLC19A2 (NM_006996), indicating TRMA. Genetic testing revealed that the two alleles were inherited from her mother alone due to maternal uniparental isodisomy (UPD). The patient was treated with thiamine and a subcutaneous injection of insulin. The patient recovered well and was discharged. She continued thiamine and insulin at the same dose and was followed once a month. The last follow-up on September 15, 2020, showed no anemia or bleeding. She had a sound hearing and normal blood routine and fasting glucose levels. Hyperopia and astigmatism did not improve.Conclusion: The patient had TRMA induced by the c.515G&gt;A (p.G172D) homozygous mutation of SLC19A2 inherited through maternal UPD. The genetic diagnosis of TRMA is of significance for guiding clinical treatment. Early treatment with exogenous thiamine can improve some of the clinical features of TRMA.
The Impact of Telehealth on Clinical Education in Adolescent Medicine During the COVID-19 Pandemic: Positive Preliminary Findings
Authors: Pham Do-Quyen , Golub Sarah A. , Breuner Cora Collette , Evans Yolanda N. 
Published: March 2021

Purpose: Following the start of the COVID-19 pandemic, much of clinical care rapidly transitioned to telehealth, shifting the clinical training milieu for most trainees. In the wake of this shift, educators have attempted to keep learners engaged in patient care and optimize medical education as much as possible. There is, however, limited understanding of the effect of telehealth on clinical education. The aim of our study was to better understand the educational experience of pediatric and Adolescent Medicine trainees participating in clinical encounters via telehealth in a specialty consultation Adolescent Medicine Clinic at a quaternary pediatric care hospital.Methods: Using a web-based anonymous questionnaire, we surveyed trainees rotating through the Adolescent Medicine Clinic between March and June 2020. We used descriptive statistics to evaluate their experiences with telehealth and identify techniques that were effective to facilitate learning during a telehealth visit.Results: Surveys from 12 pediatric and Adolescent Medicine trainees were received, a 75% response rate. Most trainees (83.3%) reported no prior experience with telehealth before the onset of the pandemic. By the end of their rotation, trainees identified techniques that helped facilitate learning during a telehealth visit. The majority of trainees (83.3%) rated their experience as effective or very effective, and all reported interest in incorporating telehealth into their future practice.Conclusions: Pediatric and Adolescent Medicine trainees reported overall positive experiences with telehealth in clinical education and an interest in incorporating this tool into future practice. Additional research is needed to refine techniques in engaging learners through telehealth.
Characteristics and Predictors of Abstinence Among Smokers of a Smoking Cessation Clinic in Hunan China
Authors: Hu Yina , Xie Jianghua , Chang Xiaochang , Chen Jianhua , Wang Wei , Zhang Lemeng , Zhong Rui , Chen Ouying , Yu Xinhua , Zou Yanhui 
Published: March 2021

Background:More than 300 million smokers make China the largest cigarette consumer globally, which is a huge economic burden. Smoking cessation (SC) clinics can offer counseling and follow-up services. The operational experience of SC clinics in China needs to be summarized and improved based on research evidence.Purpose:The objectives of this study were to describe quit rates among attendees of SC clinics in Hunan and assess predictors of successful SC.Methods:The participants in this study were smokers who visited the SC clinic of Hunan Cancer Hospital from February 1, 2015 to September 30, 2018. Individuals who received individual counseling and assessment from the SC clinic staff and were willing to quit smoking were eligible for inclusion. Those with critical illness or cancer were excluded. Application of smoking cessation clinic registration form (unified by Chinese Center for Disease Control and Prevention) was used to assess participants at the consultation. Follow-ups and counseling were performed over telephone at 1 week, 1 month, and 3 months after the initial cessation consultation or in times of need. Successful SC was checked for at 3 months after the start of SC.Results:A total of 328 smokers (mean age 45.67 ± 12.38 years) had participated. The abstinence rate at 3 months was 28.4%. Binary regression analysis revealed significant independent predictors to be the total numbers of SC follow up sessions, previous SC attempts, and participants' decision on when to quit smoking (The relative to quit immediately group, quit within 30 days, quit after 30 days, and undecided quit were less likely to succeed in quitting. while quit within seven days had no statistical significance.Conclusion:SC clinics can achieve a desirably high quit rate. Participant's previous attempts at quitting, three or more follow-ups, and the decision to quit immediately or within seven days were factors helpful in predicting the success of SC.
Public Knowledge, Attitudes, and Practices Behaviors Towards Coronavirus Disease 2019 (COVID-19) During a National Epidemic—China
Authors: Xu Yuan , Lin Guofu , Spada Claudio , Zhao Huifen , Wang Shuo , Chen Xiaoyang , Chen Yunfeng , Zhang Yixiang , Marraro Giuseppe A. , Zeng Xiaohong , Ye Xiangjia , Zhang Li , Zeng Yiming 
Published: March 2021

Background: The rapid outbreak of coronavirus disease 2019 (COVID-19) posed a serious threat to China, followed by compulsive measures taken against the national emergency to control its further spread. This study was designed to describe residents' knowledge, attitudes, and practice behaviors (KAP) during the outbreak of COVID-19.Methods: An anonymous online questionnaire was randomly administrated to residents in mainland China between Mar 7 and Mar 16, 2020. Residents' responses to KAP were quantified by descriptive and stratified analyses. A Multiple Logistic Regression model was employed to identify risk factors associated with KAP scores.Results: A total of 10,195 participants were enrolled from 32 provinces of China. Participants of the ≥61 years group had higher KAP scores [adjusted Odds Ratio (ORadj) = 4.8, 95% Confidence Interval (CI): 3.0–7.7, P &lt; 0.0001], and the married participants and those in low-income families had higher scores of KAP (ORadj = 1.2, 95% CI: 1.1–1.3; ORadj = 1.8, 95% CI: 1.6–2.2, respectively, both P &lt; 0.0001). The participants living with more than two family members had higher scores in an increasing ORs when the family members increased (ORadj = 1.3, 95% CI: 1.1–1.6, P = 0.013; ORadj = 1.3, 95% CI: 1.1–1.6, P = 0.003; ORadj = 1.3, 95% CI: 1.0–1.6, P = 0.02; for groups of 2, 3–4 and ≥5, respectively).Conclusions: Out of the enrolled participants who completed the survey, 85.5% responded positively toward the mandatory public health interventions implemented nationwide by the Chinese authorities. These effective practices seem to be related to a proper attitude generated by the increased knowledge and better awareness of the risks related to the COVID-19 pandemic and the consequent need for safe and responsible behavior.
Efficacy of Prehabilitation Including Exercise on Postoperative Outcomes Following Abdominal Cancer Surgery: A Systematic Review and Meta-Analysis
Authors: Waterland Jamie L. , McCourt Orla , Edbrooke Lara , Granger Catherine L. , Ismail Hilmy , Riedel Bernhard , Denehy Linda 
Published: March 2021

Objectives:This systematic review set out to identify, evaluate and synthesise the evidence examining the effect of prehabilitation including exercise on postoperative outcomes following abdominal cancer surgery.Methods:Five electronic databases (MEDLINE 1946-2020, EMBASE 1947-2020, CINAHL 1937-2020, PEDro 1999-2020, and Cochrane Central Registry of Controlled Trials 1991-2020) were systematically searched (until August 2020) for randomised controlled trials (RCTs) that investigated the effects of prehabilitation interventions in patients undergoing abdominal cancer surgery. This review included any form of prehabilitation either unimodal or multimodal that included whole body and/or respiratory exercises as a stand-alone intervention or in addition to other prehabilitation interventions (such as nutrition and psychology) compared to standard care.Results:Twenty-two studies were included in the systematic review and 21 studies in the meta-analysis. There was moderate quality of evidence that multimodal prehabilitation improves pre-operative functional capacity as measured by 6 min walk distance (Mean difference [MD] 33.09 metres, 95% CI 17.69–48.50;p= &lt;0.01) but improvement in cardiorespiratory fitness such as preoperative oxygen consumption at peak exercise (VO2peak; MD 1.74 mL/kg/min, 95% CI −0.03–3.50;p= 0.05) and anaerobic threshold (AT; MD 1.21 mL/kg/min, 95% CI −0.34–2.76;p= 0.13) were not significant. A reduction in hospital length of stay (MD 3.68 days, 95% CI 0.92–6.44;p= 0.009) was observed but no effect was observed for postoperative complications (Odds Ratio [OR] 0.81, 95% CI 0.55–1.18;p= 0.27), pulmonary complications (OR 0.53, 95% CI 0.28–1.01;p= 0.05), hospital re-admission (OR 1.07, 95% CI 0.61–1.90;p= 0.81) or postoperative mortality (OR 0.95, 95% CI 0.43–2.09,p= 0.90).Conclusion:Multimodal prehabilitation improves preoperative functional capacity with reduction in hospital length of stay. This supports the need for ongoing research on innovative cost-effective prehabilitation approaches, research within large multicentre studies to verify this effect and to explore implementation strategies within clinical practise.