bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel mutations of the SRF gene in Chinese sporadic conotruncal heart defect patients
Authors: Mengmeng Xu , Yuejuan Xu , Sun Chen , Yanan Lu , Fen Li , Kun Sun 
Published: April 2020

Abstract
Background: Conotruncal heart defects (CTDs) are a group of congenital heart malformations that cause anomalies of cardiac outflow tracts. In the past few decades, many genes related to CTDs have been reported. Serum response factor (SRF) is a ubiquitous nuclear protein that acts as transcription factor, and SRF was found to be a critical factor in heart development and to be strongly expressed in the myocardium of the developing mouse and chicken hearts. The targeted inactivation of SRF during heart development leads to embryonic lethality and myocardial defects in mice. Methods: To illustrate the relationship between SRF and human heart defects, we screened SRF mutations in 527 CTD patients, a cross sectional study. DNA was extracted from peripheral blood target sequencing. The mutations of SRF were detected and validated by Sanger sequencing. The affection of the mutations on wild-type protein was analyzed by in silico softwares. Western blot and real time PCR were used to analyze the changes of the expression of the mutant mRNA and protein. In addition, we carried out dual luciferase reporter assay to explore the transcriptional activity of the mutant SRF. Results: Among the target sequencing results of 527 patients, two novel mutations (Mut1: c.821A>G p.G274D , the adenine(A) was mutated to guanine(G) at position 821 of the SRF gene coding sequences (CDS), lead to the Glycine(G) mutated to Asparticacid(D) at position 274 of the SRF protein amino acid sequences; Mut2: c.880G>T p.G294C , the guanine(G) was mutated to thymine (T) at position 880 of the SRF CDS, lead to the Glycine(G) mutated to Cysteine (C) at position 294 of the SRF protein amino acid sequences.) of SRF (NM_003131.2) were identified. Western blotting and RT-PCR showed that there were no obvious differences between the protein expression and mRNA transcription of mutants and wild-type SRF. Dual luciferase reporter assay showed that both SRF mutants (G274D and G294C) impaired SRF transcriptional activity at the SRF promoter and atrial natriuretic factor ( ANF ) promoter ( p <0.05), additionally, the mutants displayed reduced synergism with GATA4. Conclusion: These results suggest that SRF-p.G274D and SRF-p.G294C may have potential pathogenic effects.
Genome-wide Identification, characterization and expression analysis of the effector-triggered immunity (ETI) pathway-mediated defense responsive genes in grapes against powdery and downy mildew infections
Authors: Goyal Neetu , Bhatia Garima , Garewal Naina , Upadhyay Anuradha , Singh Kashmir 
Published: April 2020

Abstract
Grapevine productivity is severely affected by fungal diseases worldwide and for the diseases control in eco-friendly way, it is essential to understand the molecular mechanisms of fungal resistance in grapes. Therefore, we performed genome-wide identification of various Resistance (R) genes expressed during PM and DM infection in grapevine. Consequently, we identified 6, 21, 2, 5, 3 and 48 EDS1, NDR1, PAD4, NPR, RAR and PR genes respectively in the grapevine genome. Further, differential expression analysis resulted in identification of 2, 4, 7, 2, 4, 1 and 7 differentially expressed PM-responsive Resistance (R) genes (NBS-LRR, EDS1, NDR1, PAD4, NPR, RAR1 and PR) and 28, 2, 5, 4, 1 and 19 differentially expressed DM-responsive Resistance (R) genes (NBS-LRR, EDS1, NDR1, NPR, RAR1 and PR) in V. vinifera. These genes are involved in salicylic acid mediated Effector-triggered immunity (ETI) pathway, therefore, we examined their co-expression to determine the sequence of events that occurs during a signaling cascade in order to respond against PM and DM-infection. Altogether, the PM and DM responsive R genes of ETI pathway found in this study can be used in future to produce new and improved grape varieties that are immune to biotic stresses.
Changing Clinical Characteristics of Non-Cystic Fibrosis Bronchiectasis in Children
Authors: Erdem Ela , Gokdemir Yasemin , Atag Emine , Ikizoglu Nilay Bas , Ergenekon Pinar , Yilmaz Cansu Yegit , Kut Arif , Ersu Refika , Karakoc Fazilet , Karadag Bulent 
Published: April 2020

Abstract
Background: The prevalence of non-cystic fibrosis (CF) bronchiectasis is increasing in both developed and undeveloped countries in recent years. Although the main features remain similar, etiologies seem to change. Our aim was to evaluate the clinical and laboratory characteristics of our recent non-CF bronchiectasis patients and to compare these with our historical cohort in 2001. Methods: 104 children with non-CF bronchiectasis followed between 2002 and 2019 were enrolled. Age of diagnosis, underlying etiology and microorganisms in sputum culture were recorded. Clinical outcomes were evaluated in terms of lung function tests and annual pulmonary exacerbation rates at presentation and within the last 12 months. Results: Mean FEV1 and FVC %predicted at presentation improved compared to historical cohort (76.6±17.1 vs. 63.3±22.1 and 76.6±15.1 vs. 67.3±23.1, respectively; p<0.001). There was a significant decrease in pulmonary exacerbation rate from 6.05±2.88 at presentation to 3.23±2.08 during follow-up (p<0.0001). In 80.8% of patients, an underlying etiology was identified. There was an increase in primary ciliary dyskinesia (PCD) (32.7% vs. 6.3%;p=0.001), decrease in idiopathic cases (19.2% vs. 37.8%;p=0.03) with no change in postinfectious and immunodeficiencies as underlying etiology. Sputum cultures were positive in 77.9% of patients which was 46.9% in the historical cohort (p=0.001). Conclusion: Baseline pulmonary function tests were better and distribution of underlying etiology had changed with a remarkable increase in diagnosis of PCD in the recent cohort.
An Evaluation of a Peer Supervision Pilot Project among Community Health Workers in Rural Uganda
Authors: WATSEMBA AGNES , Nakibaala Grace , Ssali Brian Stephen , Namugera Frank , Katushabe Phionah , Loiseau Justin , Zzimbe Edward , Kaddu Peter 
Published: April 2020

Abstract
BackgroundThe World Health Organization recommends use of community health workers (CHWs) as a strategy to address the growing shortage of health workers. High-quality, regular supervision can help CHWs reach their full potential. Living Goods operates a community health program in 19 districts of Uganda. In the standard supervision model for the program, CHWs are supervised by a full time Community Health Supervisor (CHS) who reviews performance, coaches and mentors the CHWs. Whereas this model has proven to be effective, it is very expensive. Evidence indicates that peer supervision can be a substitute for standard supervision. In this paper, we describe our experience and program outcomes while implementing a peer supervision model among 211 CHWs in Mayuge district between January and December 2019.Objectives1. To describe the peer supervision model used. 2. To compare health services delivery outcomes. 3. To compare costs of delivery of the two supervision models.MethodsInternal organization records from January to December 2019 were reviewed. Focus group discussions and in-depth interviews with 29 CHWs were also conducted. Qualitative analysis was conducted using thematic content analysis while quantitative data was summarized to generate averages, percentages and graphs.FindingsCHWs under the peer supervision model performed better than those under the standard supervision model against all key performance indicators (KPIs). The total cost to maintain the peer supervision model for 1 year was $176 per CHW vs $273 among CHWs under the standard supervision model. Peer supervision thus resulted in an overall saving of 36% of direct operations costs. There was lower attrition among CHWs under peer supervision vs non-peers (10% vs 17%). Strengths of peer supervision included: improved CHW teamwork and motivation, optimization of supervisor time, as well as reduced program costs.ConclusionsPeer supervision is a feasible and more affordable model of supervising CHWs.
Identification of RAGE and OSM as new prognosis biomarkers of severe pneumonia
Authors: Wang Li , Tan Yan , Zhao Jiangnan , Gao Lin , Lei Jing , Shi Yi 
Published: April 2020

Abstract
BackgroundPatients with severe pneumonia complicated with hypoxic respiratory failure often associated with increased morbidity and mortality rates. It is critical to discover more sensitive and specific markers for early identification of such high risk patients thus specific and timely treatment can be adjusted.MethodsThis retrospective study was performed in the respiratory intensive care unit (RICU) of Nanjing First Hospital and Jinling Hospital, Nanjing Medical University. Clinical data of patients admitted to the RICU and diagnosed with pneumonia from January 2017 to October 2019 was retrospectively reviewed. The eligible patients were classified into hypoxemia and non hypoxemia groups according to oxygenation index of 250 mmHg. In the meantime, the same cohort was separated into survival and deceased groups after 30 days post hospital admission. The related risk factors in these two classifications were examined separately.ResultsA total of 828 patients were screened for eligibility, and eventually 130 patients with pneumonia were included in our final analysis. Among the patients, 16 passed away despite exhausting standard treatments. The comparison between hypoxemia and non hypoxemia groups suggested that gender, diabetes mellitus status, count of white blood cell(WBC), neutrophils, neutrophils/Lymphocyte, lactic acid, creatinine, D-dimer, procalcitonin (PCT), C-reactive protein (CRP), PH, Lymphocyte, albumin and RAGE were significantly different.ConclusionsPrevious studies have suggested that the APACHE II score, LIS, SOFA, Nutric scores, WBC, neutrophils, lymphocyte counts and albumin levels were independent risk factors for severe pneumonia. Our study indicated that RAGE should be a new biomarker to predict poor prognosis in pneumonia. In addition, we also showed that LIS, SOFA, lactate, lymphocyte, platelet, BUN, total bilirubin, and PCT levels before treatment were independent factors that associated with 30 days survival rate. In addition, we proposed that OSM should be considered as a new prognosis marker for pneumonia patients.
Prevalence and predictors of HIV-syphilis co-infection among HIV-infected pregnant women in China, 2011-2018
Authors: Wang Qian , Wang Xiao-Yan , Ma Xiaomeng , Newman Lori M , Dou Li-Xia , Qiao Ya-Ping , Chen Xiang-Sheng , Jin Xi , Wang Ai-Ling 
Published: April 2020

Abstract
Background

The co-infection of Human Immunodeficiency Virus (HIV) and syphilis is risky for pregnant women and their expected children. In 2015, the Integrated Prevention of Mother-to-Child Transmission (iPMTCT) programwas established to offer all pregnant women with free screening, counseling, and testing of HIV and syphilis during regular obstetric inspections. To summarize the phase progress of this program, we reported the trends of maternal HIV-syphilis co-infection in China. We tried to socioeconomic factors associated with HIV-syphilis co-infection to inform the stratified control strategy for future work.
Methods

We obtained the prevalence data of HIV and syphilis over 2011–2018 by reviewing the Sexually Transmitted Infection (STI) monthly update reporting to the central surveillance system. With health status, background characteristics, and health outcomes reported, we collected the case reports from 2,578 HIV-positive pregnant women who accepted the screening at the local clinic. The trends of HIV and syphilis prevalence were examined using the Cochran-Armitage trend test. Logistic regression was applied to detect the features associated with syphilis infection among HIV-positive women and the potential risk factor to neonatal death.
Results

The prevalence of HIV decreased from 0.076–0.039% among registered pregnant women but increased slightly to 0.054% in 2018. The trend of syphilis prevalence in HIV-infected pregnant women fluctuated slightly around an average of 1.80% (p = .378). Multivariate logistic regression indicated finishing education of junior high school or below (aOR: 1.79, 95%CI: 1.31–2.43; p < .001), on regular Antiretroviral Therapy (ART) (aOR: 1.89, 95%CI: 1.47–2.45; p < .001) and exposed HIV from injective drug use (aOR: 5.49, 95%CI: 3.51–8.61; p < .001) are associated with high syphilis infection risk. Syphilis co-infection with HIV (aOR: 2.81, 95%CI: 1.32–5.96; p < .007) significantly increases the risk of newborns death.
Conclusion

Syphilis infection is still very prevalent in HIV-positive pregnant women five years after the implementation of iPMTCT program. Promoting the health education for maternal infection of STIs and increasing the availability of early intervention to link more marginalized women with care service should be the focuses of work in the next stage.
Influence of self-management on patient-reported outcomes for individuals with chronic heart failure: a multilevel model approach from a longitudinal study
Authors: Tian Jing , Zhao Jinghua , Zhang Qing , Ren Jia , Han Linai , Li Jing , Zhang Yanbo , Han Qinghua 
Published: April 2020

Abstract
Purpose: Self-management is highly heterogenous in quality of life in individuals with chronic heart failure. The distributions, the extents of self-management strategies and changes over time of these may play a role in this uncertainty. The aim of this study was to identify clinically meaningful strategies that improve quality of life reflected by patient-reported outcomes in those with chronic heart failure.Methods: A multicenter, prospective cohort study of 555 patients with heart failure were enrolled from May 2017 to May 2019. Self-management advice was provided in written form at discharge to all patients. Information regarding chronic heart failure in patient-reported outcomes and self-management were collected during follow-up. Multilevel models were applied to dynamically evaluate the effects of self-management strategies for patient-reported outcome of chronic heart failure (CHF-PRO) scores, as well as its physical and psychological domains. Minimal clinically important difference was introduced to further evaluate clinical significance.Results: Scores for CHF-PRO improved significantly after discharge. A regular schedule, avoidance of over-eating, and a low-sodium diet increased scores on patient-reported outcomes, including overall scores and physical and psychological scores. In addition, exercise improved patient-reported outcomes and its physical domain. The use of angiotensin-converting enzyme inhibitors also increased physical scores. Among these variables, a regular daily schedule and avoidance of over-eating almost every day reached clinical significance for CHF-PRO scores, as well as its physical and psychological domains. Conclusions: Self-management, especially the avoidance of over-eating and maintenance of a regular schedule will improve patient-reported outcomes in those with chronic heart failure.Trial registration: 2018LL128, January 2, 2018.
The health-related quality of life and anxiety for childhood intermittent exotropia before and after surgical correction
Authors: mao danyi , lin jing , chen lina , luo jiying , yan jianhua 
Published: April 2020

Abstract
Purposes:To assess the health-related quality of life (HRQOL) and hospital anxiety and depression scale (HADS) in Chinese children with intermittent exotropia (IXT) before and after strabismus surgery.Patients and Methods: The records of children with IXT who underwent strabismus surgery at the Zhongshan Ophthalmic Center, of Sun Yat-sen University, China over the period from January 1, 2016 to December 31, 2018 were retrospectively reviewed. All children underwent ophthalmic and orthoptic examinations including the prism and alternate cover test, fusion function by synoptophore, stereoacuity and Newcastle control score. With use of the Intermittent Exotropia Questionnaire (IXTQ), the pre- and post-operative HRQOL and pre-operative HADS were assessed within these children and their parents.Results: A total of 389 children were eligible for inclusion (47.8% male, 52.2% female, mean + SD age = 8.17 ± 2.81). Pre-operative IXTQ scores in both children and their parents were significantly correlated with near stereoacuity (P = 0.029 and P = 0.015, respectively). The angle of deviation at near vision showed a negative linear relationship with visual function (P = 0.026) and psychological (P = 0.019) scores and opinions regarding surgery(P = 0.024). HADS scores were also related with near stereoacuity (P < 0.05). After surgery, both children’s and parents’ IXTQs significantly improved (p༜0.01). Children’ IXTQ scores were related to the angle of deviation at distance and their psychological and visual function scores showed a negative relationship with the angle of deviation at near vision (P < 0.05).Conclusion: Children and parents HRQOL and HADS were associated with near stereoacuity. Parents usually attend more readily to the angle of deviation at near in their IXT children. HRQOL improved significantly after surgery and can be used as one of the indices for pre-operative evaluation, but is not recommended as a criteria for surgical intervention.These first two authors contributed equally to this work
Potential impact of application to the Z0011 trial on the omission of axillary lymph node dissection in women undergoing sentinel node biopsy: a retrospective cohort study
Authors: Shinzato Julia Yoriko , Serra Katia Piton , Eugeni Caroline , Cabello César , Cardoso-Filho Cassio , Zeferino Luiz Carlos 
Published: April 2020

Abstract
Objectives: To evaluate the number of patients with early-stage breast cancer who could benefit from the omission of axillary surgery following the application of ACOSOG Z0011 trial criteria.Results: A total of 384 patients underwent breast-conserving surgery and sentinel lymph node biopsy. Of the total number of patients, 86 women underwent axillary lymph node dissection for metastatic sentinel lymph nodes. One patient underwent axillary node dissection due to a suspicious SLN intra-operatively. Among these patients, 82/87 (94.3%) had one to two involved sentinel lymph nodes and met criteria for the ACOSOG Z0011 trial with the omission of axillary lymph node dissection. Among the 82 eligible women, there were only 13 cases (15.9%) of lymphovascular invasion and 62 cases (75.6%) of tumors measuring up to 2cm in diameter (T1). The high rate of patients who met criteria for the ACOSOG Z0011 trial may be explained by the large number of patients with disease of a favorable prognosis. ACOSOG Z0011 trial criteria can be applied to a select group of SLN-positive patients, reducing the costs and morbidities of breast cancer surgery.
The Effect of Neuromuscular Training on Functional Movement Screen Scores in Injury-Prone Military Athletes
Authors: Nari Seyyed Mojtaba Soltandoost , Alizadeh Mohammad Hosein , shamsoddini alireza 
Published: April 2020

Abstract
Background

Pre-participation examinations are the standard approach for assessing poor movement quality that would increase musculoskeletal injury risk. On the other hand, the neuromuscular control plays a significant role in the prevention of injury and rehabilitation. The main purpose of this study was to determine the effect of an 8-week neuromuscular training on functional movement screen (FMS) in injury-prone military athletes.
Methods

In the present quasi-experimental study, forty injury-prone male military athlete were identified by functional movement Screen. Functional Movement screen were assessed before and after the 8-week program. Participants were placed into 1 of the 2 groups: intervention (n = 20) and control (n = 20). The intervention group was required to complete a neuromuscular training program that met 3 times per week for 8-week. Data analysis was done using the independent t-test and analysis of covariance at the significant level of p < 0.05.
Results

The comparison of total FMS score indicated a significant difference (P < 0.05 and effect size = 0.83) between intervention (17.75 ± 1.55) and control (11 ± 1.55) groups. A significant improvement in mobility (p < 0.05 and effect size = 0.39), stability (p < 0.05 and effect size = 0.77) and advanced movement (p < 0.05 and effect size = 0.75) were also found.
Conclusion

An 8-week neuromuscular training program enhances functional movement screen in military athletes. It seems that this training program can minimize injury risk in injury-prone individuals.
Oncologic outcomes after resection of para-aortic lymph node metastasis in left-sided colon and rectal cancer
Authors: Sakamoto Junichi , Ozawa Heita , Nakanishi Hiroki , Fujita Shin 
Published: April 2020

Abstract
Background The optimal surgical management strategy for para-aortic lymph node (PALN) metastasis has not attracted as much attention as surgery for liver or lung metastasis. The purpose of this retrospective study was to evaluate the oncologic outcomes after synchronous resection of PALN metastasis in left-sided colon and rectal cancer.Methods Between January 1986 and August 2016, 29 patients with pathologically positive PALN metastasis who underwent curative resection at our hospital were retrospectively reviewed. We examined clinicopathological characteristics, long-term oncologic outcomes, and factors related to favorable prognosis in patients with PALN metastasis.Results The 3-year overall survival and recurrence-free survival (RFS) rates were 50.5% and 17.2%, respectively. Six (20.7%) patients experienced no recurrence in the three years after surgery. Postoperative complications were seen in nine (31.0%) patients. The three-year RFS rate was significantly better in the pM1a group than in the pM1b/pM1c group (26.3% and 0.0%, respectively, p = 0.032).Conclusions PALN dissection for left-sided colon or rectal cancer with synchronous PALN metastasis can be a feasible treatment option in selected patients.
TRPM2-AS promotes bladder cancer-genesis by targeting miR-22-3p thus releasing GINS2 mRNA
Authors: Tian Yudong , Guan Yanbin , Su Yang , Yang Tao , Yu Haizhou 
Published: April 2020

Abstract
Background: We aimed to study the effects of lncRNA TRPM2-AS in bladder cancer (BLCA) by interacting with its downstream effectors miR-22-3p and GINS2 mRNA.Methods: Online bioinformatic tools were used to identify the key lncRNA, miRNA and mRNA of interest in BLCA. TRPM2-AS, miR-22-3p and GINS2 mRNA expression was measured by qRT-PCR in bladder tissues and selected cell lines. Subcellular localization of TRPM2-AS in T24 and 5637 cell lines was identified using a cellular fractionation method. Luciferase reporter assay, RIP assay and RNA pull-down assay were employed to validate the direct binding relationship between TRPM2-AS, miR-22-3p and GINS2 mRNA. Cell viability, proliferation and apoptosis were measured by a series of cell functional experiments in T24 and 5637 cells.Results: TRPM2-AS was primarily located in cell cytoplasm and significantly up-regulated in BLCA tissues and cell lines. TRPM2-AS knockdown significantly inhibited cell viability and proliferation, but promoted cell apoptosis. miR-22-3p, a significant downstream target of TRPM2-AS, showed a lower expression level in BLCA tissues and cell lines. miR-22-3p inhibition resulted in a significant enhancement of BLCA cancer cell phenotypes. Lastly, GINS2 mRNA was a downstream target of miR-22-3p, and was significantly up-regulated in BLCA. The knockdown of GINS2 led to a significant suppression of BLCA cancer cell phenotypes.Conclusions: TRPM2-AS was a tumor promoter and fulfilling its role through binding to miR-22-3p to increase GINS2 expression. This novel interactome in BLCA might become a new therapy in BLCA.