bluuebunny/crossref_metadata_2025_split huggingface dataset:
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
Authors: Leoni Chiara , Romeo Domenico M , Michele Pelliccioni , Mariangela Di Già , Roberta Onesimo , Valentina Giorgio , Elisabetta Flex , Tedesco Marta , Tartaglia Marco , Rigante Donato , Valassina Antonio , Zampino Giuseppe 
Published: January 2021

Abstract
BackgroundCostello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies. Due to their rarity, the characterization of the musculo-skeletal phenotype in both disorders has been poorly characterized.Patients and methodsHerein we reported data on orthopedic findings and functional status of a large sample of CS and CFCS patients. Thirty-four patients (CS=17 and CFCS=17) were recruited. Functional and disability evaluations were performed by assessing the 6-minute walking test (6MWT) and Pediatric Outcomes Data Collection Instrument (PODCI). Genotype/phenotype correlation was also provided.ResultsOrthopedic manifestations are highly prevalent in CS and CFCS and overlap in the two disorders. Overall, patients with CS harboring the recurrent HRAS Gly12Ser substitution show a more severe skeletal phenotype compared to patients carrying the Gly12Ala and Gly13Cys variants. Among CFCS patients, those with the MAP2K1/2 variant show different skeletal characteristics compared to BRAF variants, with a higher prevalence of orthopedic abnormalities. Functional assessment showed that patients with CS and CFCS reached lower values compared to the general population, with CFCS patients displaying the lowest scores.ConclusionsOrthopedic manifestations appear universal features of CS and CFCS and they can evolve across patients’ life. Longitudinal assessment of disability status by using 6MWT and PODCI could be useful to evaluate the functional impact of orthopedic manifestations on patients’ outcome and help planning a tailored treatment of these comorbidities.
One-year results of half-dose versus one-third-dose photodynamic therapy in chronic or recurrent central serous chorioretinopathy
Authors: Jirarattanasopa Pichai , Vanchalerm Banchasakjaroen , Mansing Ratanasukon 
Published: January 2021

Abstract
Background: Central serous chorioretinopathy (CSC) is characterized by an accumulation of subretinal fluid (SRF) in the macula. It is usually treated by laser photocoagulation or photodynamic therapy (PDT) with consisting of different doses and power. This study aimed to compare the efficacy of half-dose PDT and one-third-dose PDT in chronic or recurrent CSC.Methods: A retrospective review of patients with chronic or recurrent CSC who were treated with either a half-dose or one-third-dose PDT, and had follow up 12 months afterwards. Best-corrected visual acuity (BCVA), central retinal thickness (CRT) and resolution of subretinal fluid (SRF) at baseline as well as 1, 3, 6 and 12 months post-PDT were assessed.Results: Forty-six eyes and 20 eyes received half-dose and one-third-dose PDT, respectively. The study showed efficacy of the one-third-dose PDT compared with half-dose PDT in BCVA improvement (0.10±0.04 logMAR for one-third-dose versus 0.17±0.04, for half-dose, P=0.148) and CRT improvement (125.6±24.6 µm for one-third-dose versus 139.1±16.54, for half-dose, P=0.933) at 12 months. The SRF recurrence rate was significantly higher in the one-third-dose PDT group compared with the half-dose PDT group (40.0% versus 15.2%, P=0.027) at 12-months.Conclusion: At 12 months, the one-third-dose PDT was effective in terms of BCVA and CRT improvement, when compared with half-dose PDT. However, this study showed that one-third-dose PDT had a higher recurrence rate of SRF.
The dual amylin and calcitonin receptor agonist KBP-089 and the GLP-1 receptor agonist liraglutide act complimentarily on body weight reduction and metabolic profile
Authors: Larsen Anna Thorsø , Gydesen Sofie , Sonne Nina , Karsdal Morten Asser , Henriksen Kim 
Published: January 2021

Abstract
Background: Weight loss therapy is becoming more and more important, and two classes of molecules, namely amylin receptor and GLP-1 receptor agonists, have shown promise in this regard. Interestingly, these molecules have several overlapping pharmacological effects, such as suppression of gastric emptying, reduction of glucagon secretion and weight loss in common; however, they also have distinct effects on prandial insulin secretion. Hence, a combination of these two mechanisms is of significant interest. Methods: In this study, we investigated the add-on potential of the dual amylin and calcitonin receptor agonist (DACRA) KBP-089 in combination with the GLP-1 receptor agonist liraglutide as obesity treatment in high-fat diet (HFD) fed rats. Results: Increasing doses of KBP-089 and liraglutide alone and in combination were studied with respect to their effects on body weight, food intake and glucose metabolism during a 9-week intervention study conducted in HFD rats. Further, the gastric emptying rate during an oral glucose tolerance was assessed. Treatment with KBP-089 and liraglutide dose-dependently lowered body weight 15% (at 2.5 µg/kg/day) and 7% (at 400 µg/kg/day) in HFD rats, respectively, while the combination resulted in a 21% body weight reduction, which was mirrored by reduction in fat depot sizes. Gastric emptying and glucose metabolism were improved, primarily by KBP-089, although liraglutide led to a reduction in fasting plasma glucagon. Conclusion: DACRAs complement GLP-1 on food intake, body weight, and glucose tolerance indicating the potential for an add-on therapy.
Pattern of Crimean-Congo hemorrhagic fever related high risk behaviors among Iranian butchers and its relation to perceived self-efficacy
Authors: Adham Davoud , Abazari Malek , Moradi-Asl Eslam , Abbasi-Ghahramanloo Abbas 
Published: January 2021

Abstract
Background: Crimean-Congo hemorrhagic fever (CCHF) is highly fatal to humans and an acute viral disease. The CCHF disease has been reported in occupations such as butchers, slaughterhouse butchers and workers. The aim of this study was to investigate the pattern of CCHF related high risk behaviors among butchers and determine the effects of perceived self-efficacy of the participants on their membership in latent classes. Methods: The participants of this cross-sectional study were recruited from all the meat distribution centers in Ardabil Province in 2019-2020. The LCA approach was used to observe the CCFH related high risk behaviors patterns.Results: The statistical significance level was assigned at P-value ˂ 0.05 in all the analyses. Three latent classes were identified; namely, 1) low risk (16.1%), 2) high risk (53.6%), and 3) very high risk (30.2%). After adjusting for other possible confounders higher score of perceived self-efficacy significantly decrease the odds of membership in high risk class (OR=0.74) and very high risk class (OR=0.62) compared to the low risk class. Also, age (OR=1.07) and experience (OR=0.91) associate with very high risk class.Conclusions: This study revealed the co-occurrence of CCHF related high risk behaviors in the majority of workers in the livestock and meat industry. It is necessary to provide butchers and slaughterhouse workers with general education, force them to use protective equipment and investigate the rate of tick bites in risky occupations.
Value of quantitative analysis of left ventricular systolic function in patients on maintenance hemodialysis based on myocardial work technique
Authors: Liu Chang , Feng Yi-Ping , Yan Zi-Ning , Fan Li , Rui Yi-Fei , Cui Ling 
Published: January 2021

Abstract
Background: This study aimed to determine the left ventricular (LV) systolic function in patients on maintenance hemodialysis (MHD) using the myocardial work (MW) technique and investigate the clinical value of the MW technique for the quantitative analysis of left ventricular (LV) systolic function in MHD patients with left ventricular hypertrophy (LVH).Methods: A total of 68 MHD patients and 35 controls were registered in this study. The MHD patients were divided into the non-left ventricular hypertrophy (NLVH) group (n=35) and the LVH group (n=33) according to the LV mass index (LVMI). MW was used to generate the LV global longitudinal strain (GLS), global work index (GWI), global constructive work (GCW), and global wasted work (GWW), global work efficiency (GWE). GLS and the MW parameters (GWI, GCW, GWW, GWE) were compared between groups and the correlations between these parameters and the LV ejection fraction (LVEF) in the LVH group were examined. The receiver operating characteristic (ROC) curve was used to evaluate the efficacy of MW parameters and GLS for the assessment of LV systolic dysfunction in MHD with LVH patients.Results: The LVH group had significantly lower GWE, GWI, GCW, and GLS but higher GWW than the control and NLVH groups. Compared with the control group, the NLVH group had significantly lower GWE and GLS and higher GWW, but no significant differences in GWI, GCW were observed between these two groups. The LVEF was negatively correlated with GWW in MHD patients, but positively correlated with GWI, GWE, and GCW in the LVH group. Receiver operating characteristic curve (ROC) analysis revealed that GWE, GWW, GWI, and GCW had appreciable area under the curve (AUC), sensitivity, and specificity for evaluating LV function in LVH patients on MHD. Conclusion: The MW parameters can quantitatively represent the LV myocardial work in MHD patients. Thus, the technique provides a new method for the quantitative evaluation of LV systolic function in MHD with LVH patients.
The Awareness of Women on Prostate Cancer: A Mixed-Methods Systematic Review Protocol
Authors: Wiafe Ebenezer , Mensah Kofi Boamah , Mensah Adwoa Bemah Boamah , Bangalee Varsha , Oosthuizen Frasia 
Published: January 2021

Abstract
Background: Prostate cancer accounts for about 10% of cancers affecting and claiming the lives of men. Studies have reported that women are better than men in recognition of the early manifestations of various cancers. Besides, women have been recognized to show a profound interest in their partners' health and hence, make observations that men don't know. Several studies have reported on the knowledge gaps of prostate cancer among patients and the general population. It is vital to comprehensively review the available evidence and identify research gaps in our current understanding of knowledge of women on prostate cancer.Methods: A search of bibliographic databases, MEDLINE (EBSCOhost), CINAHL (EBSCOhost), PsycINFO (EBSCOhost), Web of Science, and EMBASE (Ovid) will be undertaken from January 1999 to December 2019. The search will be limited to studies published in the English language. Duplication of studies will be removed using the EndNote citation manager. After deduplication, citations will be screened independently by two authors according to prespecified criteria. Data extraction and quality assessment of the selected studies will be done independently by two authors. Meta-analytic methods will be used where appropriate. The convergent segregated method of synthesis will be adopted in this review. Ethics and dissemination: Primary data collection will not be involved in this study, hence formal ethical clearance will not be needed. The results of the study will be presented through a peer-reviewed journal and conference presentation.Patient and public involvement: Patients or the public will not be engaged in the conduct of this study.Trial registration number: Open Science Framework (OSF) registration DOI: https://doi.org/10.17605/OSF.IO/EYHF2
Abnormal regional homogeneity and its relationship with symptom severity in cervical dystonia: A rest state fMRI study
Authors: Wei Shubao , Lu Chunhui , Chen Xiuqiong , Yang Lu , Wei Jing , Jiang Wenyan , Liu Yang , Li Huihui , Qin Yuhong , Lei Yiwu , Qin Chao , Hu Caiyou , Luo Shuguang 
Published: January 2021

Abstract
Background: Although several brain networks play important roles in cervical dystonia (CD) patients, regional homogeneity (ReHo) changes in CD patients have not been clarified. We investigated to explore ReHo in CD patients at rest and analyzed its correlations with symptom severity as measured by Tsui scale.Methods: A total of 19 CD patients and 21 gender-, age-, and education-matched healthy controls underwent fMRI scans at rest state. Data were analyzed by ReHo method.Results: Patients showed increased ReHo in the right cerebellum crus I and decreased ReHo in the right superior medial prefrontal cortex (MPFC). Moreover, the right precentral gyrus, right insula, and bilateral middle cingulate gyrus also showed increased ReHo values. A significantly positive correlation was observed between ReHo value in the right cerebellum crus I and symptom severity (p < 0.05).Conclusions: Our investigation suggested abnormal ReHo existed in brain regions of the "pain matrix" and salience network (the right insula and bilateral middle cingulate gyrus), the motor network (the right precentral gyrus), the cerebellum and MPFC and further highlighted the significance of these networks in the pathology of CD.
The expression of the acarbose biosynthesis gene cluster in Actinoplanes&nbsp;sp.&nbsp;SE50/110 is dependent on the growth phase
Authors: Droste Julian , Ortseifen Vera , Schaffert Lena , Persicke Marcus , Schneiker-Bekel Susanne , Pühler Alfred , Kalinowski Jörn 
Published: January 2021

Abstract
Background: Actinoplanes sp. SE50/110 is the natural producer of the diabetes mellitus drug acarbose, which is highly produced during the growth phase and ceases during the stationary phase. In previous works, the growth-dependency of acarbose formation was assumed to be caused by a decreasing transcription of the acarbose biosynthesis genes during transition and stationary growth phase. Results: In this study, transcriptomic data using RNA-seq and state-of-the-art proteomic data from seven time points of controlled bioreactor cultivations were used to analyze expression dynamics during growth of Actinoplanes sp. SE50/110. A hierarchical cluster analysis revealed co-regulated genes, which display similar transcription dynamics over the cultivation time. Aside from an expected metabolic switch from primary to secondary metabolism during transition phase, we observed a continuously decreasing transcript abundance of all acarbose biosynthetic genes from the early growth phase until stationary phase, with the strongest decrease for the monocistronically transcribed genes acbA, acbB, acbD and acbE. Our data confirm a similar trend for acb gene transcription and acarbose formation rate. Surprisingly, the proteome dynamics does not follow the respective transcription for all acb genes. This suggests different protein stabilities or post-transcriptional regulation of the Acb proteins, which in turn could indicate bottlenecks in the acarbose biosynthesis. Furthermore, several genes are co-expressed with the acb gene cluster over the course of the cultivation, including eleven transcriptional regulators (e.g. ACSP50_0424), two sigma factors (ACSP50_0644, ACSP50_6006) and further genes, which have not previously been in focus of acarbose research in Actinoplanes sp. SE50/110. Conclusion: In conclusion, we have demonstrated, that a genome wide transcriptome and proteome analysis in a high temporal resolution is well suited to study the acarbose biosynthesis and the transcriptional and post-transcriptional regulation thereof.
Talking but not always understanding: Couple communication about infertility concerns after cancer
Authors: Hawkey Alexandra Jane , Ussher Jane Maria , Perz Janette , Parton Chloe 
Published: January 2021

Abstract
Background Cancer related infertility can have an impact on couple relationships, with evidence that couple communication facilitates coping. However, little is known about the ways in which couples communicate about cancer-related fertility concerns. The aim of this article is to examine couple communication about fertility concerns in the context of cancer, and the perceived quality of such communication from the perspective of cancer survivors and their partners. Methods Eight-hundred and seventy-eight cancer survivors (693 women, 185 men) and 144 partners (82 women, 62 men), across a range of tumour types and age groups, completed a survey which examined cancer related fertility concerns. Seventy-eight survivors (61 women and 17 men), and 26 partners (13 women and 13 men), participated in semi-structured interviews, in order to examine the subjective experience of fertility concerns in-depth. Thematic analysis was used to analyse the interviews and open ended survey questions. Valid percentages for single items from the relationships subscale of the Fertility Preservation Inventory (FPI) related to qualitative themes, identified frequency of responses. Results The major theme was ‘talking but not always understanding”. 89.6% of cancer survivors and partners (95.1%) reported working well together handling fertility questions (FPI), but agreed that communication could be improved (65.9% survivors; 65% partners). Open and honest couple communication was associated with feelings of support, understanding and relationship growth, including perception of partner comfort (79.2% survivors; 81.6% partners). However, 32% survivors and 31.1% partners concealed fertility concerns to avoid upsetting their partner, or reported that their partner doesn’t understand their fertility concerns (survivors 25.5%, partners 14.6%), with 14.1% of cancer survivors and 19.4% partners reporting fear of relationship breakdown because of fertility issues. Fear of rejection when forming new relationships, and concerns about how to talk to future partners, was reported by non-partnered individuals. Conclusion Health-care professionals should include partners of cancer survivors in fertility discussions. Couple interventions developed in general psycho-oncology should be extended to the domain of fertility, in order to facilitate effective couple communication. Communication in future relationships needs to be addressed for single people and adolescents and young adults (AYAs) who have fertility concerns.
Epidemiologic profile of viral hepatitis B and C in North of Iran: Results from PERSIAN Guilan Cohort Study (PGCS)
Authors: Mansour-Ghanaei Fariborz , Joukar Farahnaz , Naghipour Mohammadreza , Hassanipour Soheil , Yeganeh Sara , Sepehrimanesh Masood , Fathalipour Mohammad 
Published: January 2021

Abstract
Objective: Hepatitis B (HB) and C (HC) are two severe infectious diseases with a high global health impact. This study aimed to evaluate the prevalence of HB and HC in the Prospective Epidemiological Research Studies of the Iranian Adults (PERSIAN) Guilan Cohort Study through immunological and molecular methods. Results: The blood samples were obtained from 10520 enrolled participants. Complete biochemical and hematological assessments plus urine analysis were done. The presence of HBsAg, anti-HBs, anti-HBc, and anti-HCV antibodies for all participants, and HBeAg and anti-HBe antibodies for HB positive patients were evaluated. HB genomic DNA and HC genomic RNA were extracted from positive serum samples. The real-time PCR assay was done to quantify HB and HC genomes. HC genotyping was also performed. The HB and HC prevalence was 0.24% (95% CI, 0.16 % to 0.35%) and 0.11% (95% CI, 0.06 % to 0.19%), respectively. Rural participants were significantly more HB positive than urban people (P=0.045), while male individuals were significantly more HC positive than female participants (P=0.013). The obtained showed the prevalence of HB and HC in this area were lower than other geographical locations of Iran, which may be due to different lifestyles or other unknown reasons.
Effectiveness of Low-dose Theophylline for the Management of Biomass-Associated COPD (LODOT-BCOPD): Study Protocol for a Randomized Controlled Trial
Authors: Siddharthan Trishul , Pollard Suzanne L , Jackson Peter , Robertson Nicole M , Wosu Adaeze C , Rahman Nihaal , Padalkar Roma , Sekitoleko Isaac , Namazzi Esther , Alupo Patricia , Hurst John R , Kalyesubula Robert , Dowdy David , Wise Robert , Barnes Peter J , Checkley William , Kirenga Bruce 
Published: January 2021

Abstract
Background: COPD is a leading cause of death globally, with the majority of morbidity and mortality occurring in low- and middle-income country (LMIC) settings. While tobacco-smoke exposure is the most important risk factor for COPD in high-income settings, household air pollution from biomass-smoke combustion is a leading risk factor for COPD in LMICs. Despite the high burden of biomass smoke-related COPD, few studies have evaluated the efficacy of pharmacotherapy in this context. Currently recommended inhaler-based therapy for COPD is neither available nor affordable in most resource-limited settings. Low-dose theophylline is an oral, once-a-day therapy, long used in high-income countries (HIC), which has been proposed for the management of COPD in LMICs in the absence of inhaled steroids and/or bronchodilators. The Low-dose Theophylline for the Management of Biomass-Associated COPD (LODOT-BCOPD) trial investigates the clinical efficacy and cost-effectiveness of low-dose theophylline for the management of biomass-related COPD in a low-income setting. Methods: LODOT-BCOPD is a randomized, double-blind, placebo-controlled trial to test the efficacy of low-dose theophylline in improving respiratory symptoms in 110 participants with moderate to severe COPD in central Uganda. The inclusion criteria are as follows: (1) age 40 to 80 years; (2) full-time resident of the study area; (3) daily biomass exposure, (4) post-bronchodilator FEV1/FVC below the 5th percentile of the Global Lung Initiative mixed ethnic reference population; (5) GOLD Grade B-D COPD. Participants will be randomly assigned to receive once daily, low-dose theophylline (200 mg ER, Unicontin-E) or placebo for 52 weeks. All participants will receive education about self-management of COPD and rescue salbutamol inhalers. We will measure health status using the St. George’s Respiratory Questionnaire (SGRQ) and quality of life using the EuroQol-5D (EQ-5D) at baseline and every six months. In addition, we will assess household air pollution levels, serum inflammatory biomarkers (fibrinogen, hs-CRP) and theophylline levels at baseline, one month and 6 months. The primary outcome is change in SGRQ score at 12 months. Lastly, we will assess the cost-effectiveness of the intervention by calculating quality-adjusted life years (QALYs) from the EQ-5D.Trial Registration: NCT03984188 Registered June 12, 2019Trial acronym: Low-dose Theophylline for the Management of Biomass-Associated COPD (LODOT-BCOPD)