bluuebunny/crossref_metadata_2025_split huggingface dataset:
Two novel biallelic mutations in PSMC3IP in a Chinese patient affected by primary ovarian insufficiency: case report and review of the literature
Authors: Mei Libin , Huang Lingling , Huang Yanru , Wu Xiaoling , He Huang , He XueMei , Su Zhiying , Li Ping 
Published: June 2020

Abstract
Background:

Premature ovarian insufficiency (POI) is a heterogeneous condition occurring when a woman experiences a loss of ovarian activity before the age of 40. It is one of the most common reproductive endocrine diseases in women of childbearing age. Here, we investigated the clinical manifestations and genetic features of a Chinese patient affected by POI.
Methods

We applied next-generation whole-exome capture sequencing with Sanger direct sequencing to the proband and her clinically unaffected family members.
Results

Two novel compound heterozygous mutations were identified in the PSMC3IP gene. The first is a splicing mutation (c.597 + 1G > T) that was inherited from her father, while the second mutation (c.268G > C p.D90H) was also discovered in her mother and younger sister. The two mutations were co-segregated with the disease phenotype in the family.
Conclusions

To our knowledge, this is the first report of PSMC3IP mutations causing POI in the Chinese population. Our findings further support the key role of the PSMC3IP gene in the etiology of POI. However, additional studies are required to explore the underlying molecular mechanisms involved.
Characterization of the upper respiratory tract microbiome of turkeys
Authors: Kursa Olimpia , Tomczyk Grzegorz , Sawicka-Durkalec Anna , Giza Aleksandra , Słomiany-Szwarc Magdalena 
Published: June 2020

Abstract
Background: The respiratory tracts of turkeys are the main route of infection therefore plays important roles in the overall health and performance of the birds. Understanding the poultry microbiome has the potential to offer better diagnosis and rational management of many poultry diseases. Characterization of microbial communities in the upper respiratory tract of turkeys could help better understand the role of pathogenic bacteria and other commensal or symbiotic microorganisms in the infection. The aim of this study was microbiome characterization of upper respiratory tracks of commercial turkeys using next-generation sequencing technologies. Results: The microbiome from samples collected from commercial turkey flocks was determined using 16S rRNA metagenomic approach. Taxonomic analysis of the microbiome was done by of the V3 and V4 regions of 16S rRNA gene (MiSeq, Illumina) amplification. The phylogenetic analysis identified the 10 bacterial phyla in turkey, the most abundant were phyla Firmicutes and Proteobacteria, accounting for >99% of all the sequences. The turkey sequences represent 144 established bacterial genera. Differences between bacterial abundances were found at the family and genus level. Several defining markers of microbiome succession were identified, including the presence of Ornithobacterium and Mycoplasma. Conclusions: Understanding the turkey’s respiratory microbiome is very important. Unique informations about microbiome representing members of the four major phyla of the respiratory tract in turkeys was assembled. These results obtained in this study supply information about turkey microbiome and can be useful in controlling, diagnosing and treating commercial turkey flocks. Our study significantly broaden the knowledge of the upper respiratory tract microbiome of turkeys.
Cecal microbiota affects chicken growth performance by regulating fat metabolism
Authors: Zhang Xiaolong , Hu Yafang , Ansari Abdur Rahman , Chen Yan , Cheng Ranran , Cui Lei , Nafady Abdallah A. , Elokil Abdelmotaleb A. , Abdel-Kafy El-Sayed M. , LIU HUAZHEN 
Published: June 2020

Abstract
Background

A growing body of evidences suggest critical role of the chicken gut microbiota in growth performance and fat metabolism. However, the underlying mechanism by which the gut microbiota affects chicken growth performance by regulating fat metabolism remains unclear. The purpose of current study was to compare cecal microbial communities between high and low body weight chickens and verify the correlation between fat metabolism and gut microbiota.
Results

Seven-week-old male and female chickens with significantly different body weight were used in the present study. 16S rRNA gene sequencing was used to reveal the cecal microbial community. Fat metabolism levels were compared between high and low body weight chickens. Spearman correlation analysis was used to analyze the relationship between the cecal microbiota and fat metabolism. Transferring fecal microbiota from adult chickens with high body weight into one-day-old chickens was examined by oral administration to verify gut microbiota effects on chicken growth through regulation of fat metabolism. There were significant differences in body weight, chest and leg muscle indexes as well as in cross-sectional area of muscle cells, suggesting different growth performance between high and low body weight chickens. By comparing the relative abundance of gut microbes in the cecal content in high and low body weight chickens, we found that Microbacterium and Sphingomonas were more abundant in high body weight chickens and Slackia was more abundant in low body weight chickens. The fat metabolism level was markedly different in serum, liver, abdominal adipose, chest and leg muscles between high and low body weight chickens. Spearman correlation analysis showed a positive correlation between fat metabolism and the relative abundance of Microbacterium and Sphingomonas and a negative correlation between fat metabolism and the abundance of Slackia. Hence, transferring fecal microbiota, instead of saline, from adult chickens with high body weight into one-day-old chickens improved growth performance and fat metabolism in liver.
Conclusions

These results suggested that cecal microbiota could affect chicken growth performance by regulating fat metabolism.
Oxidative stress-induced parkin misfolding, aggregation, and toxicity
Authors: Duennwald Martin , Shaw Gary S. , Esmaeili Mohammad A. , Rylett Jane R. , Schmid Susanne , McCarton Alexander S. , Rai Asit , Oliveira Cleusa de , Gregorio Sonja E. di , Roebotham Taylor V. 
Published: June 2020

Abstract
Background: Excess oxidative stress and protein misfolding are major hallmarks of neurodegenerative disease, including Parkinson’s disease (PD). Mutations in the genes encoding the ubiquitin ligase parkin cause autosomal recessive juvenile forms of Parkinsonism by the loss of parkin function in mitochondrial homeostasis and cellular protein quality control, generally. Dysfunction of parkin might also contribute to sporadic forms of PD, yet the underlying mechanisms remain mostly unexplored.
Methods: We obtained key results from studies in human PD brains, a mouse model, yeast, cultured neuronal cells, and in vitro biochemistry. Human postmortem Medial Temporal Gyrus tissue was fixed for immunohistochemistry. We performed biochemical analyses of protein lysates from human brain, mouse brain, yeast and cells to assess parkin modification by oxidative stress under normal growth conditions and more so under oxidative stress.
Results: Our results reveal that oxidative stress damages parkin by inducing the formation of aberrant intra- and inter-molecular disulfide bonds, leading to parkin misfolding and inclusion formation, which is toxic to cells. We furthermore find that parkin is most severely oxidized in its active conformation.
Conclusion: Collectively, our study identifies a mechanism by which protein oxidation can contribute to neurodegeneration in PD by combining loss of function with toxic gain of function mechanisms.
Comparation Of Different Scales To Assess Preoperative Anxiety In Children And Adolescent Undergoing Major Outpatient Surgery
Authors: Vieco-García Alberto , Picado Amanda Lopez , Joyanes Belén , Francisco-González Laura , Fuentes Manuel , Soto Carmen , Gonzalez-Perrino Carlos , Pedro Borja San , Aleo Esther 
Published: June 2020

Abstract
Background: Anxiety in children triggered by a scheduled surgical intervention is a major issue due to its frequency, and the short, medium and long term consequences. Aim: To compare different scales to assess preoperative anxiety in children at various points in the build-up to a MAS procedure, and to correlate each with the scale used to assess compliance with anaesthesia induction. Methods: An observational study was carried out on a cohort of children between 2-16 years old that were to undergo major outpatient surgery and whose anxiety was assessed on arrival to the hospital (M0), during transfer to the surgical unit (M1) and in the operating room during anaesthetic induction (M2). Anxiety in the parents (measured on the State-Trait Anxiety Inventory - STAI) and in the children (measured with the Spence Anxiety Scale - Paediatric (SCAS-P), the State-Trait Anxiety Inventory Children (STAIC) and preoperative anxiety measurement scale - m-YPAS) was assessed, and the Induction Compliance Checklist (ICC) was passed. Results: The study cohort included 129 patients aged between 2 and 16 years (75.2% male, median age 6.3 years). Anxiety scores in m-YPAS rose as the children got closer to the surgery, being greater at the entrance to the surgical unit (M0 = 25.8 ± 8.4; M1 = 32.8 ± 19.0; M2 = 34.0 ± 21.5). The m-YPAS scale is closely correlated with the ICC scale at the preoperative M1 (0.567) and M2 stages (0.803). Conclusions: Standard anxiety assessment scales are not able to predict the quality of anaesthetic induction. By contrast, the m-YPAS scale demonstrates that there is an increase in anxiety as the paediatric patient nears the surgical procedure and that it can predict a poor anaesthetic induction.
Lean Nonalcoholic Fatty Liver Disease and Risk of Incident Diabetes in a Euglycemic Population Receiving Health Checkups: A Cohort Study
Authors: Wei Limin , Cheng Xin , Luo Yulong , Yang Rongxuan , Lei Zitong , Jiang Hongli , Chen Lei 
Published: June 2020

Abstract
Background: Although recent evidence suggests that nonalcoholic fatty liver disease (NAFLD) is associated with insulin resistance and an increased risk of diabetes, the association between lean NAFLD and incident diabetes is unclear. This study aimed to investigate whether lean NAFLD and overweight/obese NAFLD have similar or dissimilar effects on the risk of new-onset diabetes.Methods: A longitudinal study was performed in 14,482 euglycemic adults who participated in a health check-up program. Fatty liver was diagnosed by abdominal ultrasonography. The outcome of interest was incident diabetes.Cox proportional hazards regression models were applied to calculate HRs with 95% CIs for future diabetes risk.Results: During the median 6.0 years of follow-up, 356 cases of diabetes occurred. Despite a low probability of hepatic fibrosis indicated by the BAAT score, lean NAFLD was positively associated with an increased risk of diabetes. Moreover, after adjusting for sociodemographic and potential confounders, the fullyadjusted HRs (95% CIs) for incident diabetes between lean NAFLD and overweight/obese NAFLD to the reference (lean without NAFLD) were 2.58 (95% CI 1.68 to 3.97) and 2.52 (95% CI 1.79 to 3.55), respectively. In post hoc analysis, the HR (95% CI) for diabetes comparing lean NAFLD to obese/overweight NAFLD was 1.02 (95% CI 0.68 to 1.54, p = 0.909). The results were robust to challenges in multiple subgroup analyses and appeared to be more pronounced for female participants (p for interaction = 0.005).Conclusions: In this cohort study, lean patients with NAFLD had a risk of incident type 2 diabetes similar to that of overweight/obese ones with NAFLD. These findings suggest that lean NAFLD is not a benign condition. Further investigations are needed to gain a better understanding of the pathogenesis and natural history of NAFLD in lean subjects.
Lymphopenia Predicts Early Mortality in Cancer Patients with Sepsis, A Retrospective Study of Medical Records
Authors: Li Jiayu , Liu Yu-xi , Zhang Meng-lin , Huang Wen-juan , Peng Ya-hui , Yu Kaijiang , Wang Rui-tao 
Published: June 2020

Abstract
Background: Postoperative sepsis in cancer patients becomes a major problem at present, but the efficiently prognostic biomarkers are limited. The present study was sought to evaluate the prognostic relevance of absolute lymphocyte counts (ALCs) in cancer patients with postoperative sepsis, which might help patients to get early treatment and improve their prognosis.Methods: Retrospective study was conducted under 368 cancer patients with postoperative sepsis who were admitted in ICU of two Chinese tertiary care hospitals from January 1, 2016 to December 31, 2017. ALCs were daily collected during the first week after being enrolled in the study. The primary outcomes of the study included 28-day and 90-day mortalities, while the secondary outcomes were hospital and ICU length of stay.Results: The absolute lymphocyte counts on day 3 were reduced in the survivors comparing with those in non-survivors. Statistically, the significantly decreased 28-day and 90-day survival rates were detected in the patients with severe and moderate lymphopenia, compared to those with no lymphopenia. These present results were consistently found and evidently confirmed in the two different hospitals.Conclusions: In accordance with the day-4 lymphopenia prediction of sepsis diagnosis, this present study revealed that lymphopenia on the day 3 after the diagnosis of sepsis was able to predict the early mortality in postoperative cancer patients. Earlier monitoring and management of lymphopenia may be needed for cancer patients with postoperative sepsis.
Human gut microbiota evaluation and comparation after the separate or combined antibiotics exposure using the simulator of human intestinal microbial ecosystem (SHIME)
Authors: Liu Lei , Das Ranjit , Suo Pengcheng , Lin Huai , Qi Hongmei , Wang Siyi , Zuo Xiaojun 
Published: June 2020

Abstract
Background A cocktail of drugs is an emerging toxic contaminant that has potential public health risk worldwide, which also would cause human intestinal microbial disorder and develop multiple human diseases. However, to date, the combination effects of antibiotics cocktail on human intestinal microbiota dysbiosis and related health risk are not fully understood. Therefore, for the first time, this study evaluated and compared the in vitro ability of amoxicillin (AMX) and polymyxin E (POL) used separately or combined on antibiotic resistance genes (ARGs) as well as human disease-related pathways in the simulated human gut. Results This study indicated that the combination exposure of POL with AMX reduced the occurrence of drug resistance in the gut microbiota caused by single antibiotic treatment. However, in comparison with the separate use of AMX and POL, the combined treatment exhibited a significantly higher ability to increase the human disease-related pathways. The combination effects on genetic level might attribute to microbiota shift, as co-occurrence patterns suggested that Bifidobacterium attributed to ARGs increasing in the POL treatment group and Enterobacter played a crucial role in human disease-related pathways enrichment after combination treatment. Conclusion These results may open up new perspectives for assessing the direct effects of combination antibiotics on the intestinal microbiota. These suggested side-effects should be considered for a combination of antibiotics prescription.
Studies on saline water intrusion in the coastal stretch of Kadalundi river basin, Malappuram district, Kerala using visual MODFLOW – A case study.
Authors: S Sajeena , P.S Swathy , M. Abdul Hakkim V. 
Published: June 2020

Abstract
The study on simulation of sea water intrusion into the coastal aquifers using Visual MODFLOW was conducted on coastal stretch of Tanur, Tirurangadi and Parappanagadi blocks of the Kadalundi river basin and this area comprises of about 130 km2 drainage area. The base map of the study area was imported into the model in BMP format and divided into 40 columns and 40 rows (1600 cells). Water level and water quality data of observation wells maintainedby Ground Water Department, Govt. of Kerala was used as input to the model. Secondary data on hydrogeological parameters and aquifer properties were also used as the input parameters of the model. In this study, Visual MODFLOW 2.8.1 integrated with MT3D software was used for groundwater modelling and contaminant transport modelling. It was observed that there is a chance of saline water intrusion in the coastal stretch of study area. There are chances of saline water intrusion to a lateral distance of 0.5 km to 1.9 km from the coast which extents 3.2 to 4.5km along the coast from northern boundary of Kadalundi river basin. Coconut retting, lime shelling and sand mining activities in the river basin were a potential source of pollution and contaminant transport. Development of small industries, construction of buildings and agricultural activities in the coastal stretch of river basin necessitated increased rate of pumping of ground water. This increased pumping of ground water leads to the entry of salt water into the fresh water aquifer formations. Global warming and sea level rise are also threatening problems in the current climate change scenario which is also a reason for saline water intrusion in to the coastal fresh water aquifers. Groundwater replenishment through natural and artificial recharge and sustainable development activities in the area are the main countermeasures to overcome this problem.
Effects of home quarantine for COVID-19 community control in Shenzhen, China, 2020
Authors: Xu Zi-Qian , Wang Jing-Zhong , Wang Hai-Rui , He Jian-Fan , Wang Bing , Yang Yong-Cun , Xian Hui-Xia , Zhang Ya-De , Feng Si-Yang , Li Min-Min , Song Li-Xia , Zou Xuan , Lu Jian-Hua 
Published: June 2020

Abstract
Background: Shenzhen implement classification management to prevent and control coronavirus disease 2019 (COVID-19) outbreak. Individuals with epidemic histories (came from Hubei and any other affected regions), but without symptoms were instructed to take home quarantine for 14 days and nucleic acid testing (NAT) for SARS-CoV-2. We described the infection status of the home-quarantined individuals, and effects of community control strategies in the three incubations after Wuhan closure in Shenzhen.Methods: This was a descriptive research, the sample size was 2,004 individuals based on multistage sampling during the pre-investigation. And the formal investigation expanded the sample size to 57,012 individuals based on pre-investigation. A single throat swab was collected from each individual for nucleic acid testing (NAT) by reverse transcription-polymerase chain reaction (RT-PCR). NAT was performed by a third-party institution. We collected information related to demographics, disease history, travel history, and personal protective measures before home quarantine, and monitored close-contact histories using the We Chat questionnaire.Results: The total infection rate of home-quarantined individuals was 0.12‰ (95% CI: 0.05‰–0.24‰) out of the total sample size of 59,016. The detection period for seven confirmed cases was primarily concentrated between February 8 and 18, 2020, which was during the second incubation period after Wuhan's closure. The home quarantined individuals with epidemic histories (came from Hubei and any other affected regions) were considered the high risk population during the first two incubations after Wuhan’s closure. No positive cases were detected from February 25 to March 5(the third incubation after Wuhan’s closure). The number of newly-confirmed cases per day was 0 for eight consecutive days from February 22 to 29 in Shenzhen.Conclusions: The community control strategies for home-quarantined individuals with epidemic histories (came from Hubei and any other affected regions), but without symptoms to take the NAT in the first two incubations is effective to control COVID-19. But it is not advocating for home-quarantined person to take the NAT since the third incubation.
Oxidative destruction of phenol on Fe/SiO2 catalysts
Authors: Arefieva O. D. , Vasilyeva M. S. , Kuryavy V. G. , Ustinov A. Yu , Zemnukhova L. A. , Gushchina D. D. 
Published: June 2020

Abstract
In the present study, the sol-gel technique helped to obtain Fe-containing samples with a base of amorphous silicon dioxide from rice husks RH-Fe and RH-Fe-300. These materials are characterized by IR spectroscopy, X-ray phase and X-ray spectral analysis. It was shown that the samples contain silicate structures Si-O-Si(Fe) and are in an amorphous state. Structure of the surface layers of RH-Fe-300 catalyst particles was established for the first time using X-ray photoelectron spectroscopy (XPS) and energy-dispersive spectra (EDX) methods. It was shown that the surface layers of the synthesized particles are oxygen depleted due to oxygen vacancies and silanol groups, therefore defects can form in its structure. Photocatalytic activity of the samples in the phenol oxidation reaction under ultraviolet and solar irradiation in the presence of hydrogen peroxide was studied. It was shown that the degree of phenol decomposition in the presence of RH-Fe for 24 hours under solar irradiation was 92%, in the presence of RH-Fe – 17%. Under two-stage irradiation (ultraviolet and solar), the percentage of phenol decomposition using both catalysts after a day amounted to more than 80%. It was established that RH-Fe-300 catalyst increases oxidation of phenolic compounds in alkaline rice husk hydrolysates under solar irradiation in the presence of hydrogen peroxide.
Formation and characteristics of filamentous granular sludge
Authors: Cheng Wenjing , Zhang Liguo , Xu Wenjie , Sun Yichen , Wan Junfeng , Li Haisong , Wang Yan 
Published: June 2020

Abstract
Aerobic granular sludge process as a promising biotechnology has been one of the research hotspots in the area of wastewater treatment during the last two decades. In our study, after around 60 days' operation, filamentous granular sludge (FGS) was formed under low aeration (SAV = 0.085 cm/s) and multi-feeding conditions. The characteristics of FGS and the performance of the FGS system for organic matter and nutrients removal were investigated. The results showed that COD and TOC removal efficiencies were relatively stable, while COD removal efficiency increased from 82% to 94% in the presence of sulfamethoxazole (SMZ) at low concentration (1 mg/L). At the same time, the TP removal efficiency could be improved and maintained at around 75%, while TN removal efficiency was flocculated at around 50%. The analysis of microbial diversity showed that Thiothrix and Trichococcus as typical filamentous species were detected and dominant in the FGS system. The abundance of Thiothrix increased from 15% to 34%, while Trichococcus decreased from 23% to 3% in the presence of SMZ.