bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic Variation Analysis and Treatment Strategy of 20 Patients with Dystrophin Gene Mutations
Authors: Liu Yedan , Chen Jun , Hou Mei , Zhang Yanhui , Guo Ya , Liu Peipei , Li Fei , Yang Chengqing , Song Jie , Wei Wei , Chen Zongbo 
Published: July 2020

Abstract
Introduction.Dystrophin (DMD) gene mutations can affect muscular dystrophin isoform expression and result in progressive muscular dystrophy including Duchenne and Becker muscular dystrophies (DMD and BMD). To establish the correlation between phenotype and genotype and exemplify the current and future treatment for muscular dystrophy disorders, we investigated 20 patients suffering from a dystrophinopathy and summarized clinical manifestation and gene mutations of them.Methods.The clinical manifestations, physical examination, laboratory work, and gene mutation results were collected in 20 patients with DMD or BMD diagnosed by clinical phenotype and genetic sequencing from July 2015 to December 2019. Multiplex ligation probe amplification (MLPA) and next-generation sequencing (NGS) were used to detect mutations in the DMD gene, and detected mutations were confirmed by Sanger sequencing.Results.The clinical manifestation of patients was characterized by progressive symmetrical muscle degeneration, limb weakness, and pseudohypertrophy along with the elevated concentration of creatine kinase, alanine aminotransferase, and aspartate aminotransferase. We found 11 dystrophin gene deletions (55%) and 4 duplication mutations (20%) among the affected patients. However, we also found point mutations including 1 nonsense (20%), 3 frameshifts (60%), and 1 splice sites (20%) mutations in the rest 5 patients. Among the 15 cases of exon deletion or duplication mutations, 7 were inherited from the mother, 3 were de-novo, while the other 5 were not tested. Besides, all 5 point-mutation cases were inherited from the mother, among which 4 point mutations were identified for the first time and linked to the disease phenotype.Conclusions.We provided clinical portraits, genetic results, and the molecular effects of mutations in patients. Four novel point mutations were identified for the first time and associated with the development of DMD and BMD. Further, we expanded knowledge of the DMD variant spectrum and exemplified the emerging therapies in muscular dystrophy.
Depression among infertile women in Gaza strip: Prevalence and correlates
Authors: Elsous Aymen , El-Kass Sae'd Abu , Salama Akram , Radwan Mahmoud , Eid Soha Abo , Baloushah Suha 
Published: July 2020

Abstract
Background

Psychological disorders are expected for women suffering from infertility. Depression is a predictable consequence and requires more investigations and considerations. This study aimed to determine prevalence and severity of depression and its predictors among infertile women in Gaza strip, Palestine using a cross-sectional design.
Methods

A cross sectional study was carried out among three hundred eighty five infertile males from Jan 2019 to Dec 2019. Participants were selected from three main In-vitro fertilization centers (IVFs) following simple random sampling. The Arabic version of Beck depression inventory was used. Logistic regression was performed to determine independent factors associated with depression. The value 0.05 or less was considered statistically significant
Results

The mean age of participated women was 29 ± 6.58 years, and mean duration of marriage and infertility were 7.76 ± 5.31 and 5.43 ± 3.50 years, respectively. Half of women had some form of depression (22.3%, 8.6% and 10.6% showed to have mild depression, moderate and severe depression, respectively). Predictors of depression were: duration of marriage (Wald test: 10.493; CI95%: 0.248–0.774), at least one abortion (Wald test: 21.233, CI95%: 1.863–4.528), primary infertility (Wald test: 6.666, CI95%: 1.148–2.742) and husband cause of infertility (Wald test: 10.878, CI95%: 0.800–0.982).
Conclusion

Infertility has an effect on the psychological aspect of women' life. Psychological intervention including counselling, support and therapy would be necessary to limit consequences of infertility. Such interventions could be implemented in infertility treatment clinics.
Socio-demographic associations of HIV among antenatal care attendees in selected rural primary care facilities in South Africa's Eastern Cape province
Authors: Mabunda Sikhumbuzo A , Sigovana Khuthala , Chitha Wezile , Apalata Teke , Nomatshila Sibusiso 
Published: July 2020

Abstract
Background
To effectively reduce vertical HIV transmission requires a reduction of HIV prevalence and incidence among pregnant women and a full understanding of its epidemiology. There is, however, literature paucity of HIV studies focusing on women attending antenatal care in rural areas in South Africa.
Methods
A Cross-sectional study of women attending antenatal care in four Primary Care facilities was conducted using an interviewer-administered questionnaire which collected information on socio-demographic characteristics and medical history. Binomial logistic regression analyses were used to determine factors associated with HIV and to estimate the prevalence ratio (PR). The 95% confidence interval (95%CI) is used for precision of estimates; p ≤ 0.05 for statistical significance.
Results
A total of 343 participants were recruited. The antenatal HIV prevalence was 38.2% (95%CI: 33.2–43.9). Participants older than 40 years were 4.6 times significantly more likely to be HIV positive compared to teenagers (p-value = 0.019). Furthermore, multiparous, unemployed and employed participants, were significantly associated with 40%, 60% and 70% higher antenatal HIV prevalences respectively when compared to primigravidas or tertiary students (p-value < 0.0001).
Conclusion
Despite a 100% antenatal HIV testing rate, the antenatal HIV prevalence remains high and is increasing in this population, coupled with no spousal attendance in antenatal care and poor condom compliance. It is therefore important to remain vigilant and monitor mother-to-child transmission that could be associated with this increased prevalence.
Biosynthesis of Copper Oxide Nanoparticles by Marine Streptomyces MHM38 and their Preventive Efficacy Against Paracetamol-Inducing Hepatic Damage of Albino Rats
Authors: Hamed Moaz , Gazwi Hanaa S.S. , Youssif Asmaa M. 
Published: July 2020

Abstract
Biosynthesis methods, employing microorganisms, have emerged as an eco-friendly, clean and viable alternative to chemical and physical methods. The present study reports the biosynthesis of copper oxide nanoparticles (CuONPs) using cell-free culture supernatant of marine Streptomyces sp. MHM38. For the optimized production of copper oxide nanoparticles, the influence of some parameters such as concentration of copper sulphate, reaction time, filtrate to substrate ratio and pH were studied. 5mM CuSO4 was optimal for NP production. Well-defined CuONP formation occurred after 60 min incubation when equal volume of filtrate (cell-free supernatant) to substrate (CuSO4 solution) was added. NPs remained stable in aqueous solution with increasing time at pH 8. CuONPs were characterized by UV-vis spectroscopy, X-ray diffraction (XRD) and finally the nature of the nanoparticles was identified by elemental analysis (EDX). Uv-vis spectroscopy of CuONPs exhibited peak at 550 nm which corresponds to the Surface Plasmon Resonance of CuONPs. Most of the particles are spherical in shape and size ranges from 1.06 – 6.5 nm analyzed using Transmission Electron Microscope (TEM). Antimicrobial activity of CuONPs was performed by well diffusion method against Enterococcus faecalis ATCC 29212, Salmonella typhimurium ATCC 14028, Pseudomonas aeruginosa ATCC 9027, Escherichia coli ATCC 8939), fungi (Rhizoctonia solani, Fusarium solani, Aspergillus niger) and yeast (Candida albicans ATCC 10237) .The highest antimicrobial activities recorded were against Candida albicans ATCC 10237, were as Salmonella typhimurium ATCC 14028 and Escherichia coli ATCC 8939 showed the lesser activity. The preventive efficacy of CuONPs was evaluated against the oxidative stress induced by paracetamol (PAC) in albino rats. The biochemical findings of CuONPs groups appeared a significant (p˂0.05) diminish in the levels of ALT, AST, ALP, LDH, total and direct bilirubin, Urea, and Creatinine as compared to paracetamol group. Non-enzymatic and enzymatic antioxidants of CuONPs groups were significantly elevated (p˂0.05) in SOD and GSH levels and significantly low NO and MAD levels compared to the paracetamol group. Also, the histopathological examination of the CuONPs groups assured that the impact of improving CuONPs against paracetamol-induced liver damage.
Blood Bioenergetic Biomarkers in Alzheimer’s Disease APOE ε4-Carriers
Authors: Wilkins Heather , Manley Sharon J. , Wang Xiaowan , Menta Blaise W. , Koppel Scott , Bothwell Rebecca , Becker Annette M. , Anderson Heidi , Schwartz Erin , Burns Jeffrey M. , Swerdlow Russell H. 
Published: July 2020

Abstract
Background:This study examined the impact of APOE ε4 on blood cell bioenergetics. Prior studies have shown systemic alterations in blood cells from APOE ε4 carriers.Methods:Platelet mitochondria cytochrome oxidase (COX) and citrate synthase (CS) Vmax activities were measured in APOE ε4 carrier and non-carrier Alzheimer’s disease (AD) subjects, and lymphocyte mitochondria and bioenergetics-relevant protein and viability endpoints were measured using fresh and expanded cultures. Statistical analysis was completed using Student’s T-Test.Results:The mean platelet COX Vmax activity, normalized to protein content, was lower in APOE ε4 carriers and lymphocyte Annexin V, a marker of apoptosis, was significantly higher. PINK1, a protein involved in mitophagy, was higher in APOE ε4 carrier lymphocytes. mTOR and SIRT1, which play a role in energy sensing, were different between the groups; mTOR phosphorylation decreased while SIRT1 phosphorylation increased in APOE ε4 carrier lymphocytes. The lipid synthesis pathway differed, as AceCSI and ATP CL increased in APOE ε4 carrier lymphocytes, and ACC phosphorylation also increased.Conclusions:These findings overall support a relationship between APOE genotype and bioenergetic pathways and indicate that relative to AD non-APOE ε4 carriers, platelets and lymphocytes from AD APOE ε4 carriers exist in a relative state of bioenergetic stress. As APOE ε4 influences AD risk these data may help define a systemic AD biomarker phenotype.
Prognostic value of pro-inflammatory neutrophils and C-reactive protein in cancer patient with COVID-19: a multi-center, retrospective study
Authors: Zhang Bo , Yu Yuanhang , Herbet Shawna , Zhang Yue , Lu Jianhua , Liu Shihua , Xie Fang , Zhao Liang , Lei Xiao , Deng Wei , Chen Jianying , Li Yunqiao 
Published: July 2020

Abstract
Background: At present, the epidemic of the novel coronavirus disease 2019 (COVID-19) has quickly engulfed the world. Inflammatory cytokines are associated with the severity and outcomes of patients with COVID-19. However, the effects of pro-inflammatory factors in cancer patients with COVID-19 are unknown. Methods: A multi-center, retrospective, cross-sectional study, based on 5 designated tertiary hospitals for the treatment of COVID-19 in Hubei Province, China. 112 cancer patients with COVID-19, and 105 COVID-19 patients without cancer were enrolled in the study between January 1 st , 2020 and April 30 th , 2020. The risk assessment of pro-inflammatory factors for disease severity and clinical adverse outcomes was identified by univariable and multivariable logistic regression models. Results: Of the 112 cancer patients with COVID-19, 40 (35.7%) patients were in critical condition and 18 (16.1%) patients died unfortunately. Univariate and multivariate analysis demonstrated that hemoglobin count and pro-inflammatory neutrophil and C-reactive protein, can be used as independent factors affecting the severity of COVID-19; Meanwhile, pro-inflammatory neutrophils and C-reactive protein can be used as an independent influencing factor for adverse clinical outcome. Moreover, the dynamic changes of neutrophils and C-reactive protein were also presented, and compared with COVID-19 patients without cancer, cancer patients with COVID-19 showed higher neutrophil counts and C-reactive protein levels. Conclusions: In cancer patients with COVID-19, the significant increase in pro-inflammatory neutrophil and C-reactive protein indicated a more critical illness and adverse clinical outcome, and pro-inflammatory neutrophils and C-reactive protein played a more adverse effect compare with COVID-19 patients without cancer, which may be the cause of critical illness and adverse clinical outcomes of cancer patients with COVID-19.
A Comparison Between the Effects of Manual Therapy Plus Sexual Advice With Manual Therapy Alone in Patients With Low Back Pain: A Study Protocol
Authors: Danazumi Musa Sani , Yakasai Abdulsalam Mohammed , Ibrahim Shehu Usman , Shehu Usman Tijjani , Abubakar Mubarak Falke , Zakari Usman Usman 
Published: July 2020

Abstract
Objective: The aim of this study is to compare the effects of manual therapy plus sexual advice (MT+SA) with manual therapy alone (MTA) in the management of individuals with low back pain (LBP). Methods: A total of 208 individuals diagnosed with LBP secondary to lumbar disk herniation with radiculopathy (LDHR) will be randomly (computer-generated block randomization) assigned into 2 treatment groups; 104 participants each in (MT+SA) and (MTA) groups. Each participant will be assessed at baseline, 4, 8 and 12 weeks of intervention and then at 6, 9, and 12 months of follow-up. Outcomes to be assessed will include both self-report (pain, disability, sciatica bothersomeness and sciatica frequency), and objective outcomes (gait speed and dynamic isometric abdominal strength). Repeated measures ANOVA with intervention (MT+SA and MTA) as the between-subject variable and time (weeks 4, 8 and 12, months 6, 9 and 12) as the within-subject variable will be used to analyze treatment effects. Discussion: This study will determine if the addition of sexual advice to manual therapy will yield better outcomes than when manual therapy alone is administered to individuals with LBP secondary to LDHR. Trial Registration: Pan African Clinical Trial Registry: PACTR202002785212512.
Effectiveness of nutrition interventions and approaches used for Management of Moderate Acute Malnutrition in Children of age 6-59 months – A Systematic Review Protocol
Authors: Samnani Amir Ali , Azim Mehak 
Published: July 2020

Abstract
Background:In year 2019 approximately 47.0 million children under five were wasted of which 32.3 million were moderately & remaining 14.3 million were severely wasted. Acute malnutrition has been estimated to be responsible for almost 12.6% of under five deaths globally. If remained untreated moderate Acute malnutrition (MAM) is likely to progress to Severe Acute Malnutrition (SAM). Both prevention and treatment of MAM are, therefore, likely to improve under-five survival globally. Therefore, this review aimed in determining the effectiveness of different approaches used for the management of MAM in Children 6-59 months of age in comparison with WHO Protocol for the management of MAM.Methods:Systematic review of Quantitative literature on Management of MAM in children 6-59 months using two electronic data bases (PubMed and Cochrane Library) and search engine (google scholars). Use of Grey literature, manual search and cross referencing were also performed. PRISMA checklist was used as a guide to this review. Total 14 studies out of XXXX were available for full text review based on eligibility criteria. Data extraction sheet was designed to extract relevant information. Overall Quality appraisal of included studies will be undertaken using Joanna Briggs Institute (JBI) checklist for RCTs and New castle checklist for other studies. Data Synthesis will be done using Review Manager software version 5.3.Discussion: Acute malnutrition is a continuum condition, but severe and moderate forms are treated separately This review findings would expect to explore the effective interventions and approaches undertaken for the management of MAM; in order to support and advocate for uniform, effective, simpler and sustainable approach for its management and to ensure that all MAM children should have access to treatment and hence not been neglected or awaited till the situation deteriorated to SAM. Systematic Review registration: PROSPERO, CRD42020161404
A novel RNA binding protein-associated prognostic model to predict overall survival in hepatocellular carcinoma patients
Authors: Liu Ye , Qin Zhixiang , Yang Hai , Gu Yang , Li Kun 
Published: July 2020

Abstract
Background

Hepatocellular carcinoma (HCC) represents one of the deadliest malignancies worldwide. Despite significant advances in diagnosis and treatment, the mortality rate from HCC persists at a substantial level. This research strives to establish a prognostic model based on the RNA binding proteins (RBPs) that can predict HCC patients’ OS.

Methods

There was an RNA-seq data set derived from the Cancer Genome Atlas (TCGA) databank which was included in our research as well as a Microarray data set (GSE14520). The differentially expressed RBPs between HCC and normal tissues were investigated in TCGA dataset. Subsequently, the TCGA data set was randomly split into a training and a testing cohort. The prognostic model of the training cohort was developed by applying univariate Cox regression and lasso Cox regression analyses and multivariate Cox regression analysis. In order to evaluate the prognostic value of the model, a comprehensive survival assessment was conducted.

Results

A total of 133 differentially expressed RBPs were identified. Five RBPs (RPL10L, EZH2, PPARGC1A, ZNF239, IFIT1) were used to construct the model. The model accurately predicted the prognosis of liver cancer patients in both the TCGA cohort and the GSE14520 validation cohort. HCC patients could be assigned into a high-risk group and a low-risk group by this model, and the overall survival of these two groups was significantly different. Furthermore, the risk scores obtained by our model were highly correlated with immune cell infiltration. .

Conclusions

Five RBPs-related prognostic models were constructed and validated to predict OS reliably in HCC individuals. It helps to identify patients at high risk of mortality with the risk prediction score, which optimizes personalized therapeutic decision-making.
Reconstructing the Household Transmission of Influenza in the Suburbs of Tokyo Based on Clinical Cases
Authors: Saito Masaya Masayoshi , Hirotsu Nobuo , Hamada Hiroka , Takei Mio , Honda Keisuke , Baba Takamichi , Hasegawa Takahiro , Kitanishi Yoshitake 
Published: July 2020

Abstract
Background Influenza is a public health issue that needs to be addressed strategically and assessment of detailed infectious profiles is important for that. Household transmission data have played a key role for estimating these profiles. From one clinic’s influenza diagnostic and questionnaire-based data, we aimed to estimate the detailed infectious period (incubation, symptomatic and infective, and extended infective after recovery) and secondary attack ratio (SAR) for each household size of influenza by using modified Cauchemez-type model.Results The data source was derived from enrolled patients with confirmed influenza who were treated at the Hirotsu Clinic (Kawasaki, Japan) with a neuraminidase inhibitor (NAI) during the 6 Northern Hemisphere influenza seasons between 2010 and 2016. A total of 2,342 outpatients representing 1,807 households were included. For influenza type A, average incubation period and its 95% probability interval was 1.43 (0.03-5.32) days. Estimated average symptomatic and infective period was 1.76 (0.33-4.62) days and point estimated extended infective period after recovery was 0.25 days. Estimated SAR elevated from 20% to 32% as household size increases from 3 to 5. For influenza type B, average incubation period, average symptomatic and infective period, and extended infective period were estimated 1.66 (0.21-4.61) days, 2.62 (0.54-5.75) days and 1.00 days, respectively. SAR was increased 12% to 21% as household size increases from 3 to 5.Conclusion All estimated periods of influenza type B were longer than those of influenza type A. On the other hands, SAR of type B was less than that of type A. These results may reflect Japanese demographics and treatment policy. It is useful to understand the infectious profiles of influenza for examining public health measures.
How Mathematical Modeling Could Contribute to the Quantification of Metastatic Tumor Burden Under Therapy: Insights in Immunotherapeutic Treatment of Non-Small Cell Lung Cancer
Authors: Schlicke Pirmin , Kuttler Christina , Schumann Christian 
Published: July 2020

Abstract
Background: Cancer is one of the leading death causes globally with about 8.2 million deaths per year and an increase in numbers in recent years. About 90% of cancer deaths do not occur due to primary tumors but due to metastases, of which most are not clinically identifiable because of their relatively small size at primary diagnosis and limited technical possibilities. However, therapeutic decisions are formed depending on the existence of metastases and their properties. Therefore non-identified metastases might have huge influence in the treatment outcome. The quantification of clinically visible and invisible metastases is important for the choice of an optimal treatment of the individual patient as it could clarify the burden of non-identifiable tumors as well as the future behavior of the cancerous disease. Results: The mathematical model presented in this study gives insights in how this could be achieved, taking into account different treatment possibilities and therefore being able to compare therapy schedules for individual patients with different clinical parameters. The framework was tested on three patients with NSCLC, one of the deadliest types of cancer worldwide, and clinical history including platinum-based chemotherapy and PD-L1-targeted immunotherapy. Results yield promising insights into the framework to establish methods to quantify effects of different therapy methods and prognostic features for individual patients already at stage of primary diagnosis.
Leveraging DNA methylation quantitative-trait loci to characterize the relationship between metabolic traits and Alzheimer’s disease
Authors: Liu Di , Yu Zhiyuan , Cao Weijie , Wang Youxin , Meng Qun 
Published: July 2020

Abstract
Background: The relationship between DNA methylation, common metabolic risk and Alzheimer’s disease (AD) is not well understood.Methods: Summary statistics integrating DNA methylation quantitative trait loci (mQTLs) and several genome-wide association study data were used. Network with bidirectional mendelian randomization (MR) analysis was performed to examine the causal association among metabolic traits, DNA methylation and AD.Results: Our study showed that cis-mQTLs determined DNA methylation to higher total cholesterol (TC) was associated with higher AD risk (β [95% CI] =0.007 [0.002-0.013], P=0.005). The findings were robust in sensitivity analyses with different instrumental variables. We found no evidence to support causal associations of cis-mQTLs determined obesity and T2D with AD, and vice versa.Conclusion: Overall, our study showed that the cis-mQTLs determined DNA methylation to higher TC was associated with higher AD risk, whereas the relation of cis-mQTLs determined AD and metabolic dysregulation was unlikely to be causal.