bluuebunny/crossref_metadata_2025_split huggingface dataset:
Detection of in rs876657372 (delACGT) in PRSS12 Gene, Risk Factors and Associated Congenital Abnormalities in Non-Syndromic Intellectual Disability-Case Control Study.
Authors: Esmail Ebtihal Mohammed Bashir , Ellaithi Mona 
Published: October 2020

Abstract
BackgroundPRSS12 gene was the first gene to be identified as a cause of a non-syndromic autosomal recessive form of intellectual disability (ID). A 4-base pair deletion (delACGT; rs876657372) in the PRSS12 gene has been detected in two different families diagnosed with autosomal recessive non-syndromic intellectual disability (NS-ID). Here we aimed to find out if rs876657372 is associated with NS-ID in Sudanese and the possible risk factors that could be linked the disability.MethodsThe study included 60 individuals; 30 were diagnosed with NS-ID and 30 healthy controls. The IQ level, parent's degree of consanguinity, family history of ID, exposure to X-ray, bacterial or viral infection, smoking, and taking of medication during pregnancy were all analyzed as possible risk factors. We also investigated the possible associated congenital abnormality. Restriction fragment length polymorphism method (RFLP) was performed using primers that include the 4 base pair deletion site.ResultsMale to female ratio of 3:2 with a mean age was 15 years for both study groups. The degree of intellectual disability (ID) varies between patients group, however 60% had a moderate ID. Furthermore, 57% of the patients had consanguineous parents. Assessment of risk factors among the patient group showed mothers of the patients were more exposed to risk factors than control group. Patients’ families had history of ID more than the controls; this could indicate the possibility of autosomal recessive ID. Furthermore, Psychomotor delay appeared to be common among the patients group. The SNP analysis revealed that only two patients were heterozygous delACGT; both patients were with moderate ID. None of the control group had the mutation.ConclusionCauses of NS-ID could be correlated to certain environmental and hereditary factors. DelACGT is correlated to NS-ID mainly in patients with moderate ID.Name of the registryAl-Neelain University Institutional Review BoardTrial registration numberNU-IRB-18-5-5-22Date of registration22/05/2018
A Randomized clinical Trial of Inhaled Ciclesonide for Acute Asthma.
Authors: Martins Demétrius Tierno , Carlos Karla , Carvalho Luciane BC , Prado Lucila Bizari , Fransolin Carolina , Prado Gilmar F 
Published: October 2020

Abstract
Background: Current guidelines for management of acute asthma exacerbations advocate the administration of short-acting bronchodilators and systemic corticosteroids. The use of inhaled corticosteroids for this purpose has been tested since the 1990s, but the optimal agent, dose, and strategy have yet to be defined. Within the context, we designed a double-blind, randomized clinical trial aiming to compare high doses of inhaled ciclesonide to systemic corticosteroids in the treatment of acute asthma exacerbations in the emergency department. Methods: This double-blind, randomized clinical trial enrolled 58 patients with a clinical diagnosis of bronchial moderate and severe asthma by GINA(Global Initiative for Asthma) criteria who presented to the emergency department with peak flow <50% of predicted. Patients were randomized into two groups. Over the course of 4 hours, one group received 1440 mcg inhaled ciclesonide plus hydrocortisone-identical placebo (ciclesonide + placebo group), while the other received 500 mg intravenous hydrocortisone plus ciclesonide-identical placebo (hydrocortisone + placebo group). Both groups received short-acting bronchodilators (fenoterol hydrobromide and ipratropium bromide) as recommended by GINA. The research protocol included spirometry, rigorous and frequent clinical evaluation (dyspnea, accessory muscle use, wheezing, respiratory effort), and vital signs and ECG monitoring. Data were obtained at baseline, 30, 60, 90, 120, 180, and 240 minutes. We compared data from baseline to hour 4 between and within groups. Results: Overall, 31 patients received ciclesonide + placebo and 27 received hydrocortisone + placebo. Inhaled ciclesonide was as effective as intravenous hydrocortisone in improving clinical parameters (Borg-scored dyspnea, p=0.95; sternocleidomastoid muscle use, p=0.55; wheezing, p=0.55; respiratory effort, p=0.95) and spirometric parameters (forced vital capacity, p=0.50; forced expiratory volume in the first second, p=0.83; peak expiratory flow, p=0.51).Conclusions: Inhaled ciclesonide was non-inferior to systemic hydrocortisone for management of acute asthma exacerbations, improving both clinical and spirometric parameters.Trial registration: RBR-6XWC26 - Registro Brasileiro de Ensaios Clínicos (http://www.ensaiosclinicos.gov.br/rg/RBR-6xwc26/). Date of registration: 05/01/2016 'retrospectively registered'.
Testosterone inhibits human wild-type and chimeric aldosterone synthase activity in vitro
Authors: Vecchiola Andrea , Fuentes Cristóbal A. , Carvajal Cristian A. , Campino Carmen , Allende Fidel , Tapia-Castillo Alejandra , Lagos Carlos F. , Fardella Carlos 
Published: October 2020

Abstract
BackgroundFamilial hyperaldosteronism type I is caused by the generation of a chimeric aldosterone synthase enzyme (ASCE) which is regulated by ACTH instead of angiotensin II. We have reported that in vitro, the wild-type (ASWT) and chimeric aldosterone synthase (ASCE) enzymes are inhibited by progesterone and estradiol did not affect.AimTo explore the direct action of testosterone on ASWT and ASCE enzymes.MethodsHEK-293 cells were transiently transfected with vectors containing the full ASWT or ASCE cDNAs. The effect of testosterone on AS enzyme activities were evaluated incubating HEK-cells transfected with enzymes vectors and adding deoxycorticosterone (DOC) alone or DOC plus increasing doses of testosterone. Aldosterone production was measured by HPLC-MS/MS. Docking of testosterone within the active sites of both enzymes was performed.ResultsIn this system, testosterone inhibited ASWT (90% inhibition at five µM, IC50=1.690 µM) with higher efficacy and potency than ASCE (80% inhibition at five µM, IC50=3.176 µM). Molecular modelling studies showed different orientation of testosterone in ASWT and ASCE crystal structures.ConclusionsThe inhibitory effect of testosterone on ASWT or ASCE enzymes is a novel non-genomic testosterone action, suggesting that further clinical studies are needed to assess the role of testosterone in the screening and diagnosis of primary aldosteronism.
Long non-coding RNA PTPRG-AS1 promotes cell tumorigenicity in epithelial ovarian cancer by decoying microRNA-545-3p and consequently enhancing HDAC4 expression
Authors: Shi Juanjuan , Xu Xijian , Zhang Dan , Zhang Jiuyan , Yang Hui , Li Chang , Li Rui , Wei Xuan , Luan Wenqing , Liu Peishu 
Published: October 2020

Abstract
Background: Long non-coding RNA PTPRG antisense RNA 1 (PTPRG-AS1) deregulation has been reported in various human malignancies and identified as an important modulator of cancer development. Few reports have focused on the detailed role of PTPRG-AS1 in epithelial ovarian cancer (EOC) and its underlying mechanism. This study aimed to determine the physiological function of PTPRG-AS1 in EOC. A series of experiments were also performed to identify the mechanisms through which PTPRG-AS1 exerts its function in EOC.Methods: Reverse transcription-quantitative polymerase chain reaction was used to determine PTPRG-AS1 expression in EOC tissues and cell lines. PTPRG-AS1 was silenced in EOC cells and studied with respect to cell proliferation, apoptosis, migration, and invasion in vitro and tumor growth in vivo. The putative miRNAs that target PTPRG-AS1 were predicted using bioinformatics analysis and further confirmed in luciferase reporter and RNA immunoprecipitation assays.Results: Our data verified the upregulation of PTPRG-AS1 in EOC tissues and cell lines. High PTPRG-AS1 expression was associated with shorter overall survival in patients with EOC. Functionally, EOC cell proliferation, migration, invasion in vitro, and tumor growth in vivo were suppressed by PTPRG-AS1 silencing. In contrast, cell apoptosis was promoted by loss of PTPRG-AS1. Regarding the mechanism, PTPRG-AS1 could serve as a competing endogenous RNA in EOC cells by decoying microRNA-545-3p (miR-545-3p), thereby elevating histone deacetylase 4 (HDAC4) expression. Furthermore, rescue experiments revealed that PTPRG-AS1 knockdown-mediated effects on EOC cells were, in part, counteracted by the inhibition of miR-545-3p or restoration of HDAC4.Conclusions: PTPRG-AS1 functioned as an oncogenic lncRNA that aggravated the malignancy of EOC through the miR-545-3p/HDAC4 ceRNA network. Thus, targeting the PTPRG-AS1/miR-545-3p/HDAC4 pathway may be a novel strategy for EOC anticancer therapy.
The Impact of Type 2 Diabetes Mellitus on the Markers of Osteoporosis (Sclerostin and CTRP3) in Postmenopausal Women: A Comparative, Observational, Study
Authors: Ahmad Inass Hassan , Wakeel Mervat El Shahat El , Elhamed Sally Said Abd , Mohammed Marwa Abdelmonim , Elnagger Basma , Khairy Marwa , Kamal Mohammed , attar Shahinaz El 
Published: October 2020

Abstract
Background

In the present study, our goal was to assess the impact of type 2 diabetes mellites (T2DM) on osteoporosis markers (sclerostin and CTRP3) among postmenopausal women, and whether sclerostin and CTRP3 can be used as early biomarkers of osteoporosis/osteopenia in T2DM patients.
Methods

In a comparative, observation, study, a total of 30 postmenopausal women with osteoporosis/osteopenia and T2DM were included, as well as 30 non-diabetic women with osteoporosis/osteopenia. Thirty age and sex-matched healthy women were included as control groups. The enzyme-linked immunosorbent assay (ELISA) was used to assess the serum levels of sclerostin and CTRP3.
Results

A total of 90 women were included in the present study (30 patients per group). The serum CTRP3 was significantly lower in the DM-OST (3.45 ± 3.5 ng/dL) and OST (9.15 ± 3.65 ng/dL) groups than the control group (16.80 ± 0.55 ng/dL; p < 0.001); likewise, the serum sclerostin was higher in the DM-OST (109.95 ± 28.96 pmol/L) and OST (51.52 ± 23.18 pmol/L) than the control group (11.22 ± 1.21 pmol/L; p < 0.001). Notably, the serum CTRP3 was significantly lower and sclerostin was significantly higher in the DM-OST group than the OST group (p < 0.001)). In the DM + OST and OST groups, the serum CTRP3 correlated positively with BMD of lumbar spines, left femur, and left forearm. Serum CTRP3 was associated with lower risk of osteoporosis (OR) and diabetes (OR) in postmenopausal women. In addition, the serum sclerostin was associated with higher risk of osteoporosis (OR) and diabetes (OR) in postmenopausal women.
Conclusion

The present study provides a novel evidence about the impact of T2DM on osteoporosis biomarkers, serum CTRP3 and sclerostin. The results indicated that women with combined T2DM and osteoporosis/osteopenia exhibited more dysregulation in both biomarkers than women with osteoporosis/osteopenia. alone. Thus, serum CTRP3 and sclerostin can be used as biomarkers for early detection of osteoporosis in diabetic patients.
Higher BMI Predicts Liver Fibrosis Among Obese Adolescents with NAFLD - an Interventional Pilot Study
Authors: Lev Hadar , Cohen Shlomi , Webb Muriel , Yerushalmy-Feler Anat , Amir Achiya , Gal Dana L , Lubetzky Ronit 
Published: October 2020

Abstract
BackgroundNon-alcoholic fatty liver disease (NAFLD) can range from simple steatosis to steatohepatitis with or without fibrosis. The predictors for liver fibrosis, so as the effect of nutritional intervention on hepatic fibrosis in pediatric population are not well established. We aimed to investigate the predictors for liver fibrosis and the effects of short-term nutritional intervention on steatosis and fibrosis among obese adolescents with NAFLD.MethodsCross-sectional study among Obese adolescents. Sociodemographic and clinical data were collected. Liver fibrosis was estimated by Shearwave elastography. All participants were recommended to consume a low carbohydrate diet and were followed biweekly. Blood tests and elastography were performed upon admission and repeated after 3 months.ResultsFifty-seven pediatric patients were recruited (35 males, mean age 13.5 ± 2.9 years, mean body mass index [BMI] 38.8 ± 9.7). Liver fibrosis was diagnosed in 34 (60%) subjects, which was moderate/severe (F ≥ 2) in 24 (70%). A higher BMI Z score and moderate/severe steatosis correlated with moderate/severe fibrosis (P < 0.05). Seventeen patients completed 3 months of follow-up and displayed a decrease in BMI Z score (from BMI Z score 2.6 ± 0.5 before intervention to 2.4 ± 0.5 after intervention), with a significant decrease in liver fibrosis (P = 0.001).ConclusionPediatric patients with high BMIs and severe liver steatosis are at risk for severe liver fibrosis. Nutritional intervention with minimal weight loss may improves hepatic fibrosis among pediatric population.
Deep Insight&nbsp;Into Long Non-Coding RNA and mRNA Transcriptome Profiling in HepG2 Cells Expressing Genotype IV Swine Hepatitis E Virus ORF3
Authors: Jiao Hanwei , Shuai Xuehong , Luo Yichen , Zhou Zhixiong , Zhao Yu , Li Wenjie , Li Bowen , Gu Guojing , Wu Li , Luo Xianmei , Gan Ling , Chen Jixuan , Huang Qingzhou 
Published: October 2020

Abstract
Background: Swine hepatitis E (SHE) is a new type of zoonotic infectious disease caused by swine hepatitis E virus (SHEV). Open reading frame 3 (ORF3) is an important virulent protein of SHEV but its function still is mainly unclear.Methods: In this study we generated adenoviruses ADV4-ORF3 and ADV4-NC which successfully mediated overexpression of EGFP-ORF3 and EGFP, respectively, in HepG2 cells. High throughput sequencing was used to screen for differentially expressed long non‑coding RNAs (lncRNAs) and mRNAs. The cis-target genes of lncRNAs were predicted, functional enrichment (Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG)) was performed, and 12 lncRNAs with statistically significant different expression (p value ≤ 0.05 and q value ≤ 1) were selected for further quantitative real-time reverse transcription (qRT-PCR) validation.Results: In HepG2 cells, we identified 62 significantly differential expression genes (DEGs) (6,564 transcripts), and 319 lncRNAs (124 known lncRNAs and 195 novel lncRNAs) that were affected by ORF3, which were involved in systemic lupus erythematosus, staphylococcus aureus infection, signaling pathways regulating pluripotency of stem cells, the PPAR signaling pathway, and platinum drug resistance pathways. Cis-target gene prediction identified 45 lncRNAs corresponding to candidate mRNAs, among which 8 were validated by qRT-PCR: LINC02476 (two transcripts), RAP2C-AS1, AC016526, AL139099, and ZNF337-AS1 (3 transcripts). Conclusions: Our results revealed the lncRNA profile in host cells affected by ORF3, which will help to determine the function of ORF3, and the infection mechanism and treatment of SHE.
Revisiting Single Cell Analysis in Forensic Science
Authors: Watkins Davis , Myers Dan , Xavier Hannah , Marciano Michael 
Published: October 2020

Abstract
Background
Forensic science has yet to take full advantage of single cell analysis. Its greatest benefit is the ability to alleviate the challenges associated with DNA mixture analysis, which, despite the emergence of probabilistic genotyping, remains a significant hurdle in forensic science. Many of the factors that cause complexity in mixture interpretation are absent in single cell analyses — multiple contributors and varied levels of contribution and allele masking. Recent technological innovations have been developed within the scientific community that mitigate the historical risks of single cell analysis in forensic casework. This study revisits single cell analyses in the context of forensic identification, introducing previously unseen depth to the characterization of data generated from single cells using a novel pipeline that includes recovery of single cells using the DEPArray™ NxT and amplification using the PowerPlex Fusion 6c kit with varied PCR cycles (29, 30, and 31); the resulting allelic signal was assessed using analytical thresholds of 10, 100 and 150RFU.
Results
The mean peak heights across the sample sets generally increased as cycle number increased, 75.0 ± 85.3, 147.1 ± 172.6, and 226.1 ± 298.2 RFU, for 29, 30, and 31 cycles, respectively. The average proportion of allele/locus dropout was most significantly impacted by changes in the detection threshold, whereas increases f PCR cycle number had less impact. Overall data quality improved notably when increasing PCR from 29 to 30 cycles; however, less improvement and more volatility introduced at 31 cycles. The average random match probabilities (RMP) for the 29, 30, and 31 cycle sets at 150RFU are 1 in 2.4 × 1018 ± 1.46 × 1019, 1 in 1.49 × 1025 ± 5.8 × 1025, and 1 in 1.83 × 1024 ± 8.09 × 1024, respectively.
Conclusions
This study introduces and optimizes an analytical pipeline to generate ample high quality data from single cells that can be used in forensic analyses, thus removing the need for complex mixture interpretation. An analysis of the impact of PCR cycles on single cells revealed a significant overall improvement in the amount and quality of interpretable data when increasing from 29 to 30 cycles, while no such improvement was noted when increasing to 31 cycles.
Solar Powered Irrigation for Sustainable Development and Its Risk in Ethiopia
Authors: Toga Minyahil Tanashu 
Published: October 2020

Abstract
Background: In recent years, solar energy in Ethiopia has emerged as one of the cleanest, environmentally friendly, and reliable sources of energy. Energy is one of the main inputs of agriculture, especially for small scale irrigation, is becoming a focus in the agricultural water management agenda of the country Ethiopia. In this respect, Solar Powered Irrigation Systems are promoted widely in Ethiopia as the alternative to diesel-run pumps which is widely used by farmers in Ethiopia for sustainable development. These studies investigate the use of solar water pump for sustainable development and its risk in Ethiopia. Method: The investigation is based a review, assessment of inventory reports, scientific literatures and 10 people engaged in research, development, and/or implementation of solar power irrigation system were interviewed in person, household interviews and focus group discussionsResult: Solar based Small-scale irrigation is a policy priority in Ethiopia for rural poverty alleviation and growth, as well as climate adaptation, so there is considerable scope for expansion of small scale solar-based irrigation in Ethiopia. The risk is that farmers will consume more water than they did before the introduction of solar powered irrigation water pumping and if not well managed it will cause groundwater over abstraction, leading to depletion and degradation of groundwater resourcesConclusion: Sustainable development of the country can be achieved by enhancing solar powered small scale irrigation system to boost agricultural growth by enhancing agricultural productivity, decreases post-harvest loss, increase agribusiness income generation opportunity and revenue and increase energy efficiency and associated savings within the operation of farms and agribusiness while simulating low carbon economic growth within the agricultural sector of the country. Nevertheless, it is important to note that a solar-powered irrigation system if not well managed and regulated creates the risk of supporting unsustainable water use.
Comparative Whey Proteome Profiling of Donkey Milk With Human and Cow Milk
Authors: Zhang Xinhao , Jiang Guimiao , Ji Chuanliang , Li Haijing , Wang Yantao , Yang Li , Zhang Qin , Zhao Fuwei 
Published: October 2020

Abstract
Background: Donkey milk (DM), similar to human milk (HM) in compositions, has been suggested as the best potential hypoallergenic replacement diet for babies suffering from cow milk (CM) protein allergens. Despite advances in proteomics technologies, studies of the DM whey proteome are relatively sparse. In this study, label-free mass spectrometry analysis was conducted to quantitatively identify the differentially expressed whey proteins (DEPs) in DM vs HM group and DM vs CM group. Results: In total, 249 and 418 DEPs were found in these two groups respectively. DEPs were then subjected to intensive bioinformatic analysis. Results revealed that the majority of DEPs participated in lipid metabolic process, regulation of cytokine production, chemical homeostasis and catabolic process. Kyoto Encyclopedia of Gene and Genomes (KEGG) pathways analysis found that these DEPs mainly participated in complement and coagulation cascades, and cholesterol metabolism. Conclusion: These results may provide valuable information in the composition of milk whey proteins in DM, HM and CM, especially for low abundant components, and expand our knowledge of different biological functions between DM and HM or CM.
Effect of High or Low Dose Phenoxybenzamine on Per-Operative Hemodynamics in Pheochromocytoma
Authors: Ugleholdt Randi , Rasmussen Åse Krogh , Haderslev Pernille Agnete Heldager , Kromann-Andersen Bjarne , Feltoft Claus Larsen 
Published: October 2020

Abstract
Background. Alpha-receptor blockade is the mainstay in preoperative treatment of patients with pheochromocytoma and paraganglioma (PPGL). However, evidence regarding optimal dosage regimen is lacking. This study compares the per- and postoperative hemodynamics in patients pre-treated with a high or low dose of phenoxybenzamine. Methods. 30 consecutive patients with PPGL undergoing laparoscopic adrenalectomy were identified retrospectively. All were pretreated with phenoxybenzamine but at two separate endocrine departments aiming at different blood pressure target. End-dosage of phenoxybenzamine differed significantly between departments with 14 patients receiving a high dose regimen and 16 a low dose regimen. As a control group, we included 42 patients undergoing laparoscopic adrenalectomy for other reasons. Primary purpose was to compare per- and postoperative hemodynamics in the high and low dose groups. Secondly, to compare these endpoints to the control group. Results. Baseline characteristics did not differ between the phenoxybenzamine treated groups. The high dose group had less intra-operative systolic and diastolic blood pressure fluctuation (p = 0.03) and less periods with heart rate above 100 bpm (p = 0.04) as compared to the low dose group. Use of intravenous fluids were similar between the two groups. However, postoperatively, more intravenous fluids were administered in the high dose group. Overall, the control group was more hemodynamic stable as compared to either group treated for PPGL. Conclusions. High dose phenoxybenzamine improves per-operative hemodynamic stability but causes a higher postoperative requirement for intravenous fluids. Overall, PPGL surgery is related to greater hemodynamic instability compared to adrenalectomy for other reasons.