bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Epidemiology of Moebius Syndrome
Authors: carta arturo , favilla stefania , Mora Paolo , Calzetti Giacomo , Casalini Maria Cristina , Ferrari Pier Francesco , Bianchi Berrnardo , simonelli maria beatrice , farci roberta , gandolfi Stefano 
Published: February 2020

Abstract
Background: The epidemiology of Moebius Syndrome is actually unknown. In the present study we have investigated the epidemiology of MBS in a well defined population over a precise geographical area. Materials and Methods: Our University Hospital is the only national referral centre for the diagnosis and treatment of MBS. Participants to this cross sectional study are patients affected by MBS which have been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for our purposes were made available by AISMO database updated to April 2018. Subjects were assigned to the geographical macro-areas which are the ones conventionally used for surveys and epidemiological investigations by the Italian National Institute of Statistics. Rates and prevalence of the MBS cases were calculated referring to the last survey of the Italian population of 2018. Every study parameter was then calculated by reference to the whole country and to macro-area partition. Gender rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective gender population. Chi-square (c 2 ) analysis was adopted to investigate possible differences among geographical regions and/or gender. A p value <0.05 was considered statistically significant. Results: 164 out of 212 MBS patients satisfied our inclusion criteria. All cases were Caucasian and sporadic. The median age at diagnosis was 3.6 years (range: 0-55); this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) for patients evaluated after 2007. The birth prevalence calculated was 0.06 cases per 10,000 live births with an overall prevalence of 0.27/100000 without any gender or geographical predisposition. Conclusions: The rate of MBS prevalence herein observed, rounded for possible underestimation, is 0.3/100000 people without any geographical difference in the distribution of the cases. According to our data, MBS must be considered a rare disease but not so rare as previously postulated by researchers on their personal basis.
Pelvic asymmetry as a risk factor for nonspecific chronic low back pain
Authors: Yu Qiuhua , Huang Huanjie , Zhang Zhou , Hu Xiaoqian , Li Wenfeng , Li Le , Chen Min , Liang Zhenwen , Lo Wai Leung Ambrose , Wang Chuhuai 
Published: February 2020

Abstract
Background Empirical evidence that identifies the pelvic asymmetry in which movement plane that contribute to non-specific chronic low back pain (NCLBP) is currently lacking. Objective To establish the reliability of the Global Postural System (GPS) in assessing pelvic asymmetry and identify the association between pelvic asymmetry parameters and the occurrence of NCLBP in young adults. Design A cross-sectional, regression study. Methods People who aged between 18 and 30 and were diagnosed with NCLBP were recruited. Healthy individuals who were matched for age, gender, and education level were recruited as controls and for the reliability analysis. Reliability was assessed by the ICC (3, k), standard error and minimal detectable difference. Bivariate correlation analysis and logistic regression analysis were used to determine the risk factors. Results Twenty-eight healthy participants and 28 people with NCLBP were recruited. Moderate to excellent ICCs were observed for the inter-rater and intra-rater reliability of most postural parameters. The bivariate correlation analysis indicated that age, body mass index and pelvic asymmetry parameters were related to the occurrence of NCLBP. Pelvic angle asymmetry (odd ratio=1.17), and asymmetry of the distance between the posterior superior iliac spine and the floor (odd ratio=1.21) were significant risk factors of NCLBP. Limitation This study did not explore the causal relationship between pelvic asymmetry in the sagittal plane/pelvic asymmetry in the transverse plane and the occurrence of NCLBP. The interpretation of the results may not be generalized beyond the sample population. Conclusions The GPS is a reliable method to assess pelvic asymmetry in a clinical setting. The pelvic asymmetry parameters obtained from the GPS are likely to assist in the early identification of the potential occurrence of NCLBP.
The mutational burden and oligogenic inheritance in Klippel-Feil Syndrome
Authors: Li Ziquan , Zhao Sen , Cai Siyi , Zhang Yuanqiang , Wang Lianlei , Niu Yuchen , Li Xiaoxin , Hu Jianhua , Chen Jingdan , Wang Shengru , Wang Huizi , Liu Gang , Tian Ye , Wu Zhihong , Zhang Jianguo , Wang Yipeng , Wu Nan 
Published: February 2020

Abstract
Background: Klippel-Feil syndrome (KFS) represents a rare anomaly characterized by congenital fusion of cervical vertebrae. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. Methods: We consecutively recruited a Chinese cohort of 37 patients with KFS. The clinical manifestations and radiological assessments were analyzed and whole-exome sequencing (WES) was performed. Additionally, rare variants in KFS cases and controls were compared using genetic burden analysis. Results: We primarily examined rare variants in five reported genes (GDF6, MEOX1, GDF3, MYO18B and RIPPLY2) associated with KFS and detected three variants of uncertain significance in MYO18B. Based on rare variant burden analysis of 96 candidate genes related to vertebral segmentation defects, we identified BAZ1B as having the highest probability of association with KFS, followed by FREM2, SUFU, VANGL1 and KMT2D. In addition, seven patients were proposed to show potential oligogenic inheritance involving more than one candidate gene, the frequency of which was significantly higher than that in the in-house controls. Conclusions: Our study presents an exome-sequenced cohort and identifies five novel genes potentially associated with KFS, extending the spectrum of known mutations contributing to this syndrome. Furthermore, the genetic burden analysis provides further evidence for potential oligogenic inheritance of KFS.
Anti-tumor effects of LncRNA-CR594175 silenceing on hepatocellular carcinoma cell line HepG2 in vivo and in vitro
Authors: Liu Quan , Yu Xuxu , Yang Minjie , Li Xiangke , Zhai Xuejia , Lian Yujin , Chen Zhong , Fan Qingxia , Song Lijie , Li Wencai 
Published: February 2020

Abstract
Background Hepatocellular carcinoma (HCC) is one of the cancers of highest incidence and mortality worldwide. Methods High-throughput screening was applied to find the most varied expressed LncRNA in primary hepatocellular carcinoma and explore the interaction network of it. Results We found that lncRNA-CR594175 was the lncRNA of most varied expression, which was lower in adjacent noncancerous tissues than in primary HCC, and was lower in primary HCC than in its metastases. Knockdown of CR594175 inhibited the proliferation and invasion of HCC cells HepG2. The mechanism study revealed that CR594175, as a RNA sponge, broke the negative regulation of CTNNB1 (Catenin, beta-1) by hsa-miR142-3p, and once CR594175 was silenced, the highly expressed hsa-miR142-3p regained its regulation on CTNNB1 and inhibited the proliferation and invasion through Wnt signaling pathway. Conclusions Our present study demonstrates for the first time that CR594175 silencing suppressed proliferation and invasion of HCC cells HepG2 in vivo and in vitro by restoring the negative regulation of CTNNB1 by hsa-miR142-3p, laying a solid theoretic base for using lncRNA-CR594175 as genetic therapy target for HCC and offering a reasonable explanation for inactivation of miRNA in difference tumors or tumor of different stages.
Diversity of plant assemblages dampens the variability of the growing season phenology of wetland ecosystems
Authors: Rheault Guillaume , Lévesque Esther , Proulx Raphaël 
Published: February 2020

Abstract
Background: The functioning of ecosystems is highly variable through space and time. Climatic and edaphic factors are forcing ecological communities to converge, whereas the diversity of plant assemblages dampens these effects by allowing communities’ dynamics to diverge. This study evaluated whether the growing season phenology of plant communities within wetland ecosystems is determined by the climatic/edaphic factors of contrasted regions, by the species richness of plant communities, or by the diversity of plant assemblages. From 2013 to 2016, we monitored the phenology and floristic composition of 118 plant communities across five wetland ecosystems distributed along a gradient of edaphic and climatic conditions in the Province of Quebec, Canada. Results: Growing season phenology of wetlands was driven by differences among plant assemblage within ecosystems, and not by the species richness of each individual community (<1% of the explained variation). Variation in the growing season length of wetlands reflected a balance between the effects of climatic and edaphic factors on green-up dates and the dampening effects of plant assemblage diversity on green-down dates. Conclusions: The latter dampening effect may be particularly important in the context of increasing anthropogenic activities, which are predicted to impair the ability of wetlands to adapt to fluctuating environmental conditions. Our findings suggest that stakeholders should not necessarily consider local monospecific plant communities of lower conservation value to the global functioning of wetland ecosystems.
Validation of Androgen Receptor loss as a risk factor for the development of brain metastases from ovarian cancers
Authors: Mittica Gloria , Goia Margherita , Gambino Angela , Scotto Giulia , Fonte Mattia , Senetta Rebecca , Aglietta Massimo , Borella Fulvio , Sapino Anna , Katsaros Dionyssios , Maggiorotto Furio , Ghisoni Eleonora , Giannone Gaia , Tuninetti Valentina , Genta Sofia , Eusebi Chiara , Momi Marina , Cassoni Paola , Valabrega Giorgio 
Published: February 2020

Abstract
Background Central nervous system (CNS) spreading from epithelial ovarian carcinoma (EOC) is an uncommon but increasing phenomenon. We previously reported in a small series of 11 patients a correlation between Androgen Receptor (AR) loss and localization to CNS. Aims of this study were: to confirm predictive role of AR loss in an independent validation cohort; to evaluate if AR status impacts on EOC survival. Results We collected other 29 cases and 19 controls as validation cohort. In this independent cohort at univariate analysis, cases exhibited lower expression of AR, considered both as continuous ( p <0.001) and as discrete variable (10% cut-off: p <0.003; Immunoreactive score: p <0.001). AR negative EOC showed an odds ratio (OR) = 8.33 for CNS dissemination compared with AR positive EOC. Kaplan-Meier curves of the whole dataset showed that AR<10% significantly correlates with worse outcomes (p=0.005 for PFS and p=0.002 for brain PFS (bPFS) respectively). Comparison of AR expression between primary tissue and paired brain metastases in the whole dataset did not show any statistically significant difference. Conclusions AR’s deficiency confirms its predictive role for CNS involvement from EOC in an independent cohort of cases and controls. Early assessment of AR status could improve clinical management and patients’ prognosis.
Aberrant activation of the Hedgehog signaling pathway in granulosa cells from patients with polycystic ovary syndrome
Authors: Li You , Xiong Guohui , Tan Jun , Wang Shudi , Zhang Ziyu , Wu Qiongfang , Wan Lei , Huang Ouping 
Published: February 2020

Abstract
The molecular mechanism that triggers polycystic ovary syndrome (PCOS) is mysterious. Abnormal development of ovarian granulosa cells(GCs) is one of the causes of PCOS. Herein, we carried out RNA-seq to detect the different gene expression levels in ovarian GCs between 3 patients with PCOS and 4 normal controls, and found that Hedgehog signaling pathway(Hh) members, Ihh and Ptch2 were abnormally highly expressed in the PCOS group. To further verify the above results, GCs from 22 patients with PCOS and 21 controls with normal ovulation were collected to perform the RT-PCR analysis. The qPCR results also indicated that the expression levels of other Hh signaling pathway downstream members, Ptch1, Gli1, and Gli2 in the PCOS group were significantly higher than those in the control group. These results suggest that abnormally activated Hh signaling pathway, especially Ihh signal, may have a profound influence on PCOS.
Long non-coding RNA MALAT1 regulated ATAD2 to facilitate retinoblastoma progression by sponging miR-655-3p
Authors: Zhao Yuxin , Wang Zhaoxia , Gao Meili , Wang Xuehong , Feng Hui , Cui Yuanyuan , Tian Xia 
Published: February 2020

Abstract
Background: Long non-coding RNA (lncRNA) metastasis associated lung adenocarcinoma transcript 1 (MALAT1) was reported as an oncogene in many tumors including retinoblastoma (RB). This research mainly focused on the functions and mechanism of MALAT1 in RB.Methods: The levels of MALAT1, microRNA-655-3p (miR-655-3p), and ATPase family AAA domain containing 2 (ATAD2) in RB tissues and cells were measured by quantitative real-time polymerase chain reaction (qRT-PCR). The cell viability and apoptotic rate were monitored via cell counting kit 8 (CCK8) assay and flow cytometry, respectively. The protein levels of p21, CyclinD1, B-cell lymphoma-2 (Bcl-2), cleaved-casp-3, E-cadherin, Ncadherin, Vimentin, and ATAD2 were detected by Western blot assay. Transwell assay was performed to estimate the abilities of migration and invasion. The interactions between miR-655-3p and MALAT1 or ATAD2 were predicted by starBase. Dual-luciferase reporter assay was constructed to verify these interactions. The mice model experiments were established to validate the effects of MALAT1 in vivo.Results: MALAT1and ATAD2 were significantly increased while the level of miR-655-3p was remarkably decreased in RB tissues and cells. MALAT1 knockdown inhibited cell proliferation, metastasis, and epithelial-mesenchymal transition (EMT) but promoted apoptosis via miR-655-3p in vitro, and blocked xenograft tumor growth in vivo. MALAT1 was validated to sponge miR-655-3p and ATAD2 was verified as a candidate of miR-655-3p. MiR-655-3p overexpression inhibited cell proliferation but promoted apoptosis by targeting ATAD2. MALAT1 silencing affected cell behaviors by regulating ATAD2. MALAT1 depletion down-regulated ATAD2 expression via miR-655-3p in RB cells.Conclusion: MALAT1 positively regulated ATAD2 to accelerate cell proliferation but retard apoptosis by sponging miR-655-3p in RB cells.
Exploring the neural, behavioural, and clinical effects of transcranial direct current stimulation in patients with a Prolonged Disorder of Consciousness; protocol for a double-blind randomised crossover feasibility study
Authors: Fernández-Espejo Davinia , Aloi Davide , Rocchetta Antonio Incisa della , Hoad Damon , Greenwood Richard , Playford E Diane , Cruse Damian 
Published: February 2020

Abstract
Background: Therapeutic options for patients with prolonged disorders of consciousness (PDOC) are very limited, and patients often show little to no progress over time. It is widely recognized that some PDOC patients retain a higher level of cognition that may be apparent on the basis of their external responses, and simply are unable to produce purposeful motor behaviours. This dissociation has been linked to specific impairments in the motor network that lead to a reduction in thalamo-cortical coupling. Here, we will assess whether transcranial direct current stimulation (tDCS) can modulate thalamo-cortical coupling and improve patients’ responsiveness. We will focus on characterising the mechanisms of action of tDCS and the bases for potential individual differences in responsiveness to the stimulation across participants.Methods: This is a multi-centre double-blind randomised crossover feasibility study. It is divided into two streams: (a) MRI stream: 5 PDOC patients will complete 5 anodal, cathodal, and sham stimulation sessions (paired with passive mobilisation of the thumb) in separate weeks. We will measure brain activity and connectivity with functional magnetic resonance imaging and electroencephalography (EEG). We will look at brain structures to assess differences associated with responsiveness. (b) Bedside stream: 10 patients will complete one session of anodal or cathodal stimulation and one session of sham. We will measure brain activity and connectivity with EEG and we will conduct follow up assessments at 3 and 6 months. In both streams we will also look at changes in the clinical profile of patients with the Coma Recovery Scale Revised and in command following behaviour with electromyography and motion tracking. We will assess feasibility on measures of eligibility, recruitment, retention, and completion of tests.Discussion: This feasibility study is the first step towards developing personalised tDCS interventions to restore external responsiveness in PDOC patients. Our results will inform the design of a future trial fully powered for characterising neural, behavioural, and clinical effects of tDCS in PDOC as well as the mechanisms underlying individual differences in responsiveness.
FLYING HOURS OF AUSTRALIAN COMMERCIAL PILOTS AND RISK OF CUTANEOUS MELANOMA
Authors: Dusingize Jean Claude , Olsen Catherine M. , Miura Kyoko , Hosegood Ian , Tinker Rick , Karipidis Ken , Green Adèle C. 
Published: February 2020

ABSTRACT

Aim
To compare occupational flying hours (a surrogate for occupational exposure to radiation) of commercial pilots subsequently diagnosed with melanoma, with those without melanoma.

Methods
Nested case-control study of de-identified male commercial pilots in Australia 2011-2016, ascertained through the Civil Aviation Safety Authority (CASA). Cases were pilots diagnosed with melanoma 2011-2016; controls were randomly-selected pilots age-matched 1:2 with invasive cases. Total flying hours and hours flown in the last 6 months in 2011, date of birth and state of residence were also obtained. We estimated the association between total flying hours (in tertile groups), and melanoma by odds ratios adjusted for age and state (ORsadj; 95% confidence intervals (CIs)).

Results
During 2011-2016, 51 pilots developed invasive melanoma and 63, in situ (mean ages 47 and 49 years, respectively). Their median cumulative flying hours in 2011 were 6,108 and 6,900 respectively, compared with 7,500 for 102 control pilots (mean age 48.6). Risk of invasive melanoma did not increase per 1000 total hours flown (ORadj=1.00) nor did risk increase in pilots with highest vs lowest total flying hours (ORadj=1.18, 95% CI 0.44-3.15). Total flying hours were inversely associated with invasive melanoma development in pilots aged < 50 (ORadj=0.37, not significant), and not associated with melanoma on exposed sites. Recent flying hours were not associated with melanoma. Results were unchanged with inclusion of in situ cases.

Conclusion
Risk of melanoma in Australian commercial pilots is unrelated to cumulative or recent occupational exposure to radiation as indicated by total and recent flying hours.
Thermodynamic evaluation of a combined-cycle power plant with MSF and MED desalination
Authors: Khoshgoftar Manesh M. H. , Kabiri S. , Yazdi M. , Petrakopoulou F. 
Published: February 2020

Abstract
Rising water scarcity and abundant brine water resources, especially in desert locations, call for the wider adaptation of desalination techniques. Furthermore, the interdependency of water and energy has gained more attention in recent years and it is expected to play an important role in the near future. The present study deals with both topics in that it presents the coupling of a power plant with desalination units for the simultaneous generation of energy and water in Iran. The power plant used in the analysis is the Qom combined-cycle power plant. The plant is integrated, first, with a multi-stage flash (MSF) unit and, then, with a multi-effect desalination (MED) unit, and it is evaluated using energy and exergy analyses. We find that the generated power of the integrated systems is decreased by 9.7% and 8.5% with the MED and the MSF units, respectively. Lastly, the freshwater production in the plant using MED is significantly higher than in the plant with MSF (1,000 versus 1,521 kg/s).
Exergoeconomic modeling and evaluation of a combined-cycle plant with MSF and MED desalination
Authors: Manesh M. H. Khoshgoftar , Kabiri S. , Yazdi M. , Petrakopoulou F. 
Published: February 2020

AbstractIn the coming years, numerous regions are expected to suffer from water scarcity. One of the technologies of great interest in facing this challenge has been the generation of freshwater through water desalination, a process that reduces the amount of salt and minerals to a standard level, making the water suitable for drinking or agricultural/industrial use. The efficiency of each desalination process depends on the concentration of salts in the raw water and the end-use of the produced water. The present study presents the exergetic and exergoeconomic analyses of the coupling of a power plant with desalination units for the simultaneous generation of energy and water in Iran. The plant is integrated, first, with a multi-stage flash (MSF) unit and, then, with a multi-effect desalination (MED) unit. We find that the cost of exergy destruction of the MED and MSF integrated plants is lower when compared to the standalone power plant by about 0.1% and 9.2%, respectively. Lastly, the freshwater production in the plant using MED is significantly higher than that in the plant with MSF (1,000 versus 1,521 kg/s).
A Review of Aberrant DNA Methylation and Epigenetic Agents Targeting DNA Methyltransferases in Endometriosis
Authors: Ding Leilei , Yang Li , Ren Chenchen , Zhang Huawen , Lu Jie , Wang Senyan , Wu Zimeng , Yang Yanan 
Published: February 2020

Background:
Endometriosis (EMS) is a gynecological disease defined by the translocation
and growth of endometrial tissue in other tissues or organs outside the uterus. Its clinical manifestations
are dysmenorrhea, irregular menstruation, and even infertility. Although EMS is a benign
disease, it has the characteristics of malignant tumor and the potential of malignant transformation.
Recent studies have found that EMS may involve epigenetic changes and that various epigenetic aberrations,
especially aberrant DNA methylation may play an essential role in the pathogenesis of EMS.
Previous studies have elucidated the epigenetic regulators of EMS and reported variations in epigenetic
patterns
of genes known to be associated with abnormal hormonal, immune, and inflammatory
states of EMS. With the development of high-throughput sequencing and other biomolecular technologies,
we have a better understanding of genome-wide methylation in EMS.

Objective:
This article will discuss the potentiality of targeting DNA methylation as the therapeutic
approach for EMS.

Results:
This article reviews the role of DNA methylation in the pathophysiology of EMS and provides
insight into a novel therapeutic approach for EMS by targeting DNA methylation modifiers. We
also review the current progress in using DNA methylation inhibitors in EMS therapy and the potential
promise and challenges ahead.

Conclusion:
Aberrant DNA methylation plays an essential role in the pathogenesis of EMS and epigenetic
agents targeting DNA methyltransferases are expected to be the theoretical basis for the new
treatment of EMS.