bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
Authors: Hamdi Yosr , Mighri Najah , Boujemaa Maroua , Mejri Nesrine , Nasr Sonia Ben , Rekaya Mariem Ben , Messaoud Olfa , Bouaziz Hanen , Berrazega Yosra , Rachdi Haifa , Jaidane Olfa , Daoud Nouha , Zribi Aref , Ayari Jihene , Benna Houda El , Labidi Soumaya , Hassouna Jamel Ben , Haddaoui Abderazzek , Rahal Khaled , Benna Farouk , Mrad Ridha , Ahmed Slim Ben , Boussen Hamouda , Boubaker Samir , Abdelhak Sonia 
Published: February 2021

Abstract
Background Breast cancer is the world's most common cancer among women. It is becoming an increasingly urgent problem in low- and middle-income countries (LMICs) where a large fraction of women is diagnosed with advanced-stage disease and have no access to treatment or basic palliative care. About 5-10% of all breast cancers can be attributed to hereditary genetic components and up to 25% of familial cases are due to mutations in BRCA1/2 genes. Since their discovery in 1994 and 1995, as few as 18 mutations have been identified in BRCA genes in the Tunisian population. The aim of this study is to identify additional BRCA mutations, to estimate their contribution to the hereditary breast and ovarian cancers in Tunisia and to investigate the clinicopathological signatures associated with BRCA mutations. Methods A total of 354 patients diagnosed with breast and ovarian cancers, including 5 male breast cancer cases, have been investigated for BRCA1/2 mutations using traditional and/or next generation sequencing technologies. Clinicopathological signatures associated with BRCA mutations have been also investigated. Results 16 distinct mutations were detected: 10 in BRCA1 and 6 in BRCA2, of which 11 are described for the first time in Tunisia including 3 variations that have not been reported previously in public databases namely BRCA1_c.915T>A; BRCA2_c.-227-?_7805+? and BRCA2_c.249delG. Early age at onset, family history of ovarian cancer and high tumor grade were significantly associated with BRCA status. BRCA1 carriers were more likely to be triple negative breast cancer compared to BRCA2 carriers. A relatively high frequency of contralateral breast cancer and ovarian cancer occurrence was observed among BRCA carriers and was more frequent in patients carrying BRCA1 mutations. Conclusion Our study provides new insights into breast and ovarian cancer genetic landscape in the under-represented North African populations. The prevalence assessment of novel and recurrent BRCA1/2 pathogenic mutations will enhance the use of personalized treatment and precise screening strategies by both affected and unaffected North African cancer cases.
Effect of Psoralen on the Intestinal Barrier and Alveolar Bone Loss in Rats With Chronic Periodontitis
Authors: Liu Hua , Xu Yingjie , Cui Qi , Liu Ning , Chu Fuhang , Cong Beibei , Wu Yingtao 
Published: February 2021

Abstract
ObjectivesTo study the effects of psoralen on the intestinal barrier and alveolar bone loss (ABL) in rats with chronic periodontitis.MethodsFifty-two 8-week-old specific pathogen-free (SPF) male Sprague-Dawley (SD) rats were randomly divided into the following four groups: Control group (Control), Psoralen group of healthy rats (Pso), Periodontitis model group (Model), and Psoralen group of periodontitis rats (Peri+Pso). The alveolar bone resorption of maxillary molars was observed via hematoxylin-eosin staining and micro-computed tomography. The expression level of receptor activator of nuclear factor-κB ligand (RANKL) and osteoprotegerin (OPG) in periodontal tissues were evaluated by immunofluorescence staining. The changes in serum tumour necrosis factor (TNF)-α, interleukin (IL)-10, IL-6, intestinal mucosal occludin and claudin-5 were detected using enzyme-linked immunosorbent assay (ELISA). The level of intestinal mucosal NOD2 was detected using immunohistochemical methods. DNA was extracted from the intestinal contents and the 16s rRNA gene was sequenced using an Illumina Miseq platform.ResultsThe expression of NOD2 protein in the intestinal tract of periodontitis rats decreased after intragastric psoralen administration. Psoralen increased the intestinal microbiota diversity of rats. The level of serum pro-inflammatory factor TNF-α decreased and the level of anti-inflammatory factor IL-10 increased. ABL was observed to be significantly decreased in rats treated with psoralen. Psoralen decreased the RANKL/OPG ratio of periodontitis rats.ConclusionsPsoralen may affect the intestinal immune barrier and ecological barrier, mediate immune response, promote the secretion of anti-inflammatory factor IL-10, and reduce the secretion of the pro-inflammatory factor TNF-α, thus reducing ABL in experimental periodontitis in rats.
Comparison of Pre- and Postoperative Histopathology Results in Patients with Endometrial Carcinoma
Authors: Zhang Yinglan , Zhao Yu , Li Yuan 
Published: February 2021

Abstract
Background: Preoperative histopathology is considered the most effective method for evaluation of endometrial carcinoma, and plays a crucial role in deciding the extent of surgical resection. In this study, we analysed clinical data to evaluate the accuracy of preoperative diagnosis by comparing preoperative hysteroscopic biopsy results with postoperative histopathological results. Methods: This was a cross-sectional, retrospective study of patients who underwent hysteroscopic biopsy and subsequent hysterectomy for endometrial carcinoma. Clinical data were collected for 289 patients who were diagnosed with endometrial carcinoma based on hysteroscopy. We compared the histotype and tumour differentiation grade to evaluate the accuracy of diagnosis based on preoperative hysteroscopic biopsy.Results: Compared with the postoperative histotype results, the overall accuracy of the preoperative histotype results was 94.8%, and the kappa value was 0.725 (p < 0.001). The weighted kappa value for agreement between preoperative and postoperative histopathological grade was 0.616, indicating the level of agreement was “substantial” (95% CI 0.538–0.695). The rate of misdiagnosis based on hysteroscopy was significantly higher for grade 3 cancer than for grade 1 cancer, and there was no significant difference for grade 2 cancer compared with the other two grades.Conclusions: Hysteroscopy is a reliable method for preoperative diagnosis of endometrial carcinoma. Preoperative assessment of histotype by hysteroscopy showed high consistency with postoperative results. However, there was a significantly higher rate of misdiagnosis for patients with poorly differentiated tumour, which may lead to overtreatment. For these patients, we recommend analysing frozen sections before determining a final treatment strategy.
Analysis of Influencing Factors of Residual Low Back Pain After PVP
Authors: Qin Fengwei , Zhang Wencai , Wang Shuai , Jiao feng , Feng yonghui , Zhang zhaofei , Xie chunliang , Liu donghua , Zhang sineng , Liang jie 
Published: February 2021

Abstract
Background: PVP (Percutaneous vertebroplasty) has been used to treat patients with OVCFs, however, we found that some patients did not significantly relieve back pain after surgery. The purpose of this paper is to explore the possible risk factors for residual low back pain after PVP and to Method: A retrospective study was conducted on 1120 patients hospitalized for osteoporotic vertebral compression fracture (OVCF) and treated with PVP between from July 2014 to June 2020 at our hospital. Baseline, clinical and surgical data were collected to analyze the factors associated with residual low back pain after PVP.Results: A total of 61 patients complained of residual low back pain, and the prevalence was 5.4%. Among the observed indices included, there were significant differences in preoperative thoracolumbar fascia injury (TFI) and a liquefaction signal on magnetic resonance imaging (MRI) of the affected vertebrae; the number of responsible vertebrae and the distribution of bone cement were different between the two groups (P<0.05). Multivariate analysis revealed that preoperative TFI (OR=5.378, 95% CI: 1.713-16.888, P=0.004), a liquefaction signal on MRI of the affected vertebrae (OR=6.111, 95% CI：1.898-19.673, P=0.002), the number of responsible vertebrae (OR=0.098, 95% CI: 0.039-0.249, P=0.004), and the distribution of bone cement (OR=0.253, 95% CI: 0.079-0.810, P=0.021) were risk factors for residual low back pain after PVP.Conclusion: TFI, a liquefaction signal on MRI of the affected vertebrae, the number of responsible vertebrae and the distribution pattern of bone cement could be risk factors for residual low back pain after PVP.
Are Topical Skin Adhesives An Option For Wound Closure Following Musculoskeletal Oncology Surgery? A STROCSS-Compliant Observational Study
Authors: Chobpenthai Thanapon , Poosiripinyo Thanate , Tuntarattanapong Pakjai , Thanindratarn Pichaya , Trathitephun Warayos 
Published: February 2021

Abstract
Background:2-octyl cyanoacrylate (2OCA) is a high-viscosity medical-grade tissue adhesive used routinely. However, no studies have evaluated its use in musculoskeletal oncology surgery. Methods:We enrolled 99 patients undergoing musculoskeletal oncology surgery. 2OCA was chosen for wound closure, and it was applied by a specific surgeon for all patients. Drying times for the adhesive were recorded, and photographs were obtained intra-operatively. Post-treatment follow-up constituted queries regarding pain level, and recording incisional dehiscence, wound infection, hematoma, and incisional bleeding. Data collection was performed post-operatively at 48 hours, 5–10 days, 14 days, and 30 days. Other adverse events were documented. Results:2OCA was applied to 110 incisions in 99 patients constituting 62 female patients and 37 male patients. The mean age of patients was 50.41 (±16.83) years; mean incision length was 10.24 (±5.7) cm; and the mean pain score using a visual analogue scale (VAS) was 2.37 on post-operative day 7. The mean drying time was 1.81 (±0.59) minutes; 91 (91%) patients reported excellent and superior satisfaction, and the remaining patients reported “good” (6%) and “fair” (2%) satisfaction. The percentage of dehiscence, hematoma, and keloid formation was considerably low. Conclusion:2OCA was safe in musculoskeletal oncology surgical incisions in this study. The incidence of post-operative adverse events was low. However, some patients developed a hematoma. Post-operative pain was low, and patient satisfaction was high. 2OCA can be a practical alternative to traditional suture closure for skin incisions after musculoskeletal surgery.
The Experience of Intolerance of Uncertainty for Parents of Young People With a Restrictive Eating Disorder
Authors: Konstantellou Anna , Sternheim Lot , Hale Lucy , Simic Mima , Eisler Ivan 
Published: February 2021

Abstract
PurposeThis study aimed to explore how parents of young people with a restrictive eating disorder (ED) experience and manage uncertainty. MethodsSeventeen parents of young people with a restrictive ED were recruited from multi-family therapy groups run within a specialised ED clinic. Five focus groups were conducted asking parents about their experience of uncertainty both prior and after the onset of their child’s illness. ResultsData were analysed using interpretative phenomenological analysis which yielded seven superordinate themes. (1) Anorexia nervosa and uncertainty, (2) Positive and negative experiences of uncertainty (3), Helpful and unhelpful ways of coping with uncertainty, (4) Parent’s self-efficacy and uncertainty (5), Needs of parents, (6) Parents’ perceptions of intolerance of uncertainty in their children and (7) Impact of uncertainty on family life. ConclusionParents caring for young people with a restrictive ED exhibit a strong intolerance of uncertainty, particularly in relation to their child’s illness. This ‘negative uncertainty’ was thought to reduce their confidence as parents in how they managed their child’s ED. Targeting high levels of intolerance of uncertainty in parents caring for young people with an ED could be beneficial for supporting parents when faced with their child’s illness, increasing parental self-efficacy, decreasing accommodating behaviours and ultimately contributing to improved treatment outcomes.
Comprehensive Environmental Risk Assessment of Heavy Metals in an Abandoned Dye Factory of China Using SERA Methodology Based on Source Apportionment
Authors: Miao Fangfang , Zhang Yimei , Li Shuai , Duan Yaxiao , Lai Yuxian , Fang Qinglu , Li Zhiying , Lin Qianguo , Li Yu 
Published: February 2021

Abstract
Soil heavy metal contaminated sites with multiple sources of pollution have caused worldwide public concern. However, the lack of correlation of risk assessment or source identification of heavy metal leads to unclear direction of source governance. Although previous studies have involved different risk assessment, few attempts have been made to establish a link between them. In order to design a comprehensive risk assessment system, it is necessary to identify the specific source risks and the correlation and comparison between environmental risk assessment. In this paper, a methodology was established by combining source apportionment of ecological risks and human health risks (SERA) to characterize the sources and source-specific risks of heavy metals in soil. Positive matrix factorization (PMF) model was used to identify and classify potential sources of heavy metals in the study area. According to the results, they will be incorporated into the environmental risk model to evaluate environmental risk of the identified sources of heavy metals. The results showed that concentrations of Cd and Hg were highly above the background values, indicating a moderate enrichment. It was worth noting that the source contributed ecological risk index (SCEI) of Hg, with the value of 51.16 contributed mainly by the pollutant sources of waste treatment, has reached moderate ecological risk. The SCEI of Cd contributed by industrial activities (the wastewater and dyeing process) showed the most predominant source of contribution. The source contributed human health risk index (SCHI) of As contributed most by pollutant sources of agriculture activities. Overall, the modified total health risk posed by soil heavy metals SCHI was 1.11E+00, showing potential risk to the residents. This study provides a new insight for the treatment of mutil-sources of soil heavy metal pollution and also some reference value for the improvement of the risk assessment system.the main finding: Exploring a methodology (SERA) to quantitatively characterize the relationship between pollutants sources and environmental risk assessment based on source contribution.
Surface Quality and Geometric Accuracy Control of Fuel Nozzle Single-Pass Honing
Authors: Yang Changyong , Su Hao , Gao Shaowu , Fu Yucan , Ding Wenfeng , Xu Jiuhua 
Published: February 2021

Abstract
Surface quality and geometric accuracy are important evaluation indexes for machining quality of parts. In order to realize the quality control of nozzle honing, it is necessary to clarify the influence of honing parameters on surface roughness, dimension accuracy and shape accuracy. Cutting force is an important process parameter, which has an important influence on machining quality. The research on the influence of honing parameters on cutting force contributes to explain the honing process and the influence of honing parameters on machining quality. Therefore, the cutting force during honing was analyzed and modeled, and the influence of honing parameters on cutting force was clarified, and then the influence law of honing parameters on surface roughness, bore diameter and shape accuracy was explored. Finally, according to the processing requirements of fuel nozzles, the honing process optimization was carried out and the optimal processing parameters were obtained.
Diagnostic Workup for Endometrioid Borderline Ovarian Tumors (eBOT) Requires Histopathological Evaluation of the Uterus
Authors: Reichenbach Juliane , Schmoeckel Elisa , Mahner Sven , Trillsch Fabian 
Published: February 2021

Abstract
BackgroundFor young borderline ovarian tumor (BOT) patients, preservation of the uterus was incorporated as an accepted option into treatment guidelines. For the endometrioid subtype (eBOT) however, adequate histological evaluation is challenging and might be associated with synchronous endometrial disorders or misinterpreted as spread from uterine primaries. Case presentationWe report the cases of two young patients with eBOT who underwent treatment according to current guidelines. In both cases, unexpected findings of invasive uterine carcinomas were established in final histopathological evaluation.ConclusionsThis constellation highlights the challenging diagnostic workup of BOT and underlines that uterine curettage is indispensable for eBOT to exclude uterine primary tumors when fertility preservation is planned. Accordingly, this procedure needs to be included in recommendations for diagnostic workup and the potential risk should be clearly stated in treatment guidelines.
Evolutionary Responses of A Dominant Plant Along a Successional Gradient in A Salt-Marsh System
Authors: Chen Qingqing 
Published: February 2021

Abstract
The ecological responses of plant populations along the successional gradient have been intensively examined; however, the evolutionary responses remain to be elucidated. Here, I explored genetic changes of key phenotypic traits of a dominant plant along a successional gradient, and whether these changes were induced by abiotic and biotic variables. I measured key abiotic (e.g. clay thickness) and biotic variables (e.g. herbivore density) along the successional gradient in the high and low marsh in a Wadden Sea saltmarsh. Also, I collected samples of Elytrigia atherica, grew them in the greenhouse, and measured key functional traits. I found that clay thickness (a proxy of total nitrogen) increased along the successional gradient both in the high and low marsh; herbivore density from hares (the most important herbivores) decreased along the successional gradient in the high marsh. Also, I found that growth in number of leaves and ramets decreased, while rhizome length increased, along the successional gradient for E. atherica collected from the high marsh. Opposite trends were found for E. atherica collected from the low marsh. Results suggest that, in the high marsh, herbivores may overrule nutrients to drive trait changes. That is, at early successional stages, E. atherica had higher growth in number of leaves and ramets to compensate for high-density grazing. In the low marsh, nutrients were the dominant driver for trait changes. These results suggest that ecologically important abiotic and biotic variables such as nutrients and herbivores may also have a substantial evolutionary impact on plant populations.
COVID-19 Lockdown Disrupts Support Networks Integral to Maintaining Foot Health: A Mixed-methods Study
Authors: Cherry Lindsey , Gates Lucy , Culliford David , Walker-Bone Karen , Portillo Mari-Carmen 
Published: February 2021

Abstract
Background: In response to the COVID-19 pandemic, populations were advised to remain at home to control viral spread. Government-mandated restrictions on free movement affected individuals’ engagement with physical activity, with reported increases leading to biopsychosocial health benefits and conversely increased sedentary behaviour leading to poorer health. Good foot health is key to enabling physical activity and maximal participation in activities of occupation and daily living.Methods: A population-based cross-sectional study was performed, using a web-based platform. Quantitative and qualitative data were captured through responses to open survey questions. Anybody with a foot health condition was eligible to participate in the online survey. Links were sent through professional networks, support groups and charities, using a snowball strategy to maximise participation.Results: 255 respondents completed the survey. Most (n=193, 75.69%) reported an ongoing foot pain or problem that had been present for four weeks or longer, whilst 49 respondents (19.22%) noted a new pain or problem. Pain was the most frequently reported symptom (n=139, 54.51%), whilst change in appearance of the foot was also commonly reported (n=122, 47.84%), often alongside the observable presence of swelling. Musculoskeletal foot symptoms were frequently reported (n=123, 48%), and were significantly associated with reported reduced physical activity (X2=6.61, p=0.010). Following qualitative analysis five themes and 11 subthemes emerged, informed by 49 independent codes. A central theme of lockdown disrupting support networks, both formal (healthcare providers) and informal (friends or family members) emerged. The 5 sub-themes were: 1. foot pain is a constant companion, 2. self-care, 3. ‘cope or crumble’ scenarios, 4. future intent to access healthcare and 5. reduced ability to undertake physical activity.Conclusions: COVID-19 lockdown restrictions disrupted support networks integral to maintaining foot health. Foot pain was common and poor foot health impacted people’s ability to remain physically active during lockdown. Foot problems previously considered relatively ‘minor’ such as support for skin and nail care were exacerbated by the restricted support networks leading to greater negative impact. Lockdown highlighted a lack of support to self-care.
Natural geometric unit system and electron magnetic moment anomaly
Authors: Kowalski Janusz "Jani" 
Published: February 2021

Abstract
Consequences of implementation of the natural geometric unit system (the SG) based on the pre-2019 SI system, in which four fundamental physical constants undergo joint numerical and dimensional normalization to unity c = G = k = h = 1, with only one base geometric unit u equal to √|h · G/c3| m, where the Newtonian gravitational constant G ≈ 6.673 655 205 · 10-11 m3/(kg · s2), are further explored. In addition to the earlier hypothesized simple electron mass to charge ratio formula me = e/(29πα), and formulas for stable quarks rest masses: quark u mu = √(⅔) / (27π √(πα)) u, equivalent of 2.360 MeV/c2 and quark d md = √(⅓)-1 / (27π √(πα)) u, equivalent of 5.007 MeV/c2, a simple formula for electron magnetic moment anomaly is proposed α/2π - (α/2π)2 - 28(α/2π)3 - 212(α/2π)4 - 216(α/2π)5 - 224(α/2π)6 ≈ 0.001 159 652 180. The finding supports the research area of purely geometric modelling of the fundamental physical forces and their unification. It seems plausible, that in the SG, with use of half integer powers of 2, 3, π and α only, all the fundamental properties of stable matter and electromagnetic radiation could be described.