bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of Turcot’s syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report
Authors: Akabane Shintaro , Hinoi Takao , Akagi Kiwamu , Yamamoto Hideki , Sada Haruki , Shimizu Yosuke , Shimizu Wataru , Sudo Takeshi , Onoe Takashi , Ishiyama Kohei , Suzuki Takahisa , Tazawa Hirofumi , Hadano Naoto , Misumi Toshihiro , Kojima Masato , Kubota Haruna , Taniyama Daiki , Kuraoka Kazuya , Tashiro Hirotaka 
Published: July 2020

Abstract
Background
Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding region. Immunohistochemical staining (IHC) of DNA mismatch repair (MMR) proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has been recognized as an useful technique for screening of LS. Previous study has shown that the assessment of IHC, however, requires specific caution due to variable staining patterns even without germline mutations in MMR genes.

Case presentation
A 48-year-old man, who had been treated for anaplastic astrocytoma, was referred to our department for the precise examination of progressing anemia. Whole-body examination revealed two advanced carcinomas in descending colon and stomach. A hypo-vascular mass lesion was detected in liver as well. Pathological diagnosis (on surgical specimens) was poorly differentiated adenocarcinoma in descending colon, moderately differentiated tubular adenocarcinoma in stomach, and liver metastasis, which is possibly from colon. It was suspected that this case would be Turcot’s syndrome-type-1 due to its specific family history having two cases of colon cancer within the second relatives. Pathogenic frameshift mutations in codon 618 of MLH1 gene was identified. Immunohistochemical analyses (IHC) demonstrated complete loss of MLH1 immuno-expression as well as of PMS2 except for those in brain tumor. Although frameshift mutation was not found in MSH6 gene, histological expression of MSH6 was patchy in primary colon carcinoma and was completely lost in the metastatic site in liver. MSH6 expression in gastric carcinoma, a coincidental cancer in this case, was intact. An abnormal (C)8 region was identified by the cloned PCR of colon and liver tumors but not from gastric cancer. Frameshift mutation in a (C)8 tract in exon 5 of the MSH6 gene was also detected in liver metastasis.

Conclusion
This case supports a plausible mechanism, proposed by a previous literature, for the reduced expression of MSH6 in a somatic mutation manner, which might preferentially happen in colon cancer rather than in stomach carcinoma in MLH1/PMS2-deficient type of Turcot’s syndrome type 1.
Impact of breath-hold level on positional error aligned by stent/Lipiodol in Hepatobiliary radiotherapy with breath-hold respiratory control
Authors: Huang Tzu-Jie , Tien Yun , Wu Jian-Kuen , Huang Wen-Tao , Cheng Jason Chia-Hsien 
Published: July 2020

Abstract
Background
Respiratory motion management with breath hold for patients with hepatobiliary cancers remain a challenge in the precise positioning for radiotherapy. We compared different image-guided alignment markers for estimating positional errors, and investigated the factors associated with positional errors under breath-hold control.

Methods
Spirometric motion management system (SDX) for breath holds was used in 44 patients with hepatobiliary tumor. Among them, 28 patients had a stent or embolized materials (lipiodol) as alignment markers. Cone-beam computed tomography (CBCT) and kV-orthogonal images were compared for accuracy between different alignment references. Breath-hold level (BHL) was practiced, and BHL variation (ΔBHL) was defined as the standard deviation in differences between actual BHLs and baseline BHL. Mean BHL, ΔBHL, and body-related factors were analyzed for the association with positional errors.

Results
Using the reference CBCT, the correlations of positional errors were significantly higher in those with stent/lipiodol than when the vertebral bone was used for alignment in three dimensions. Patients with mean BHL > 1.4 L were significantly taller (167.6 cm vs. 161.6 cm, p = 0.03) and heavier (67.1 kg vs. 57.4 kg, p = 0.02), and had different positional error in the craniocaudal direction (− 0.26 cm [caudally] vs. + 0.09 cm [cranially], p = 0.01) than those with mean BHL < 1.4 L. Positional errors were similar for patients with ΔBHL< 0.03 L and > 0.03 L.

Conclusion
Under rigorous breath-hold respiratory control, BHL correlated with body weight and height. With more accurate alignment reference by stent/lipiodol, actual BHL but not breath-hold variation was associated with craniocaudal positional errors.
Cognitive effort-avoidance in patients with schizophrenia can reflect Amotivation: an event-related potential study
Authors: Lin Y. X. , Zhang Li Jun , Ying Liang , Zhou Qiang 
Published: July 2020

Abstract
Background
Amotivation is regarded as a core negative symptom in patients with schizophrenia. There are currently no objective methods for assessing and measuring amotivation in the scientific literature, only a trend towards assessing motivation using effort-orientated, decision-making tasks. However, it remains inconclusive as to whether cognitive effort-avoidance in patients with schizophrenia can reflect their amotivation. Therefore, this study aimed to find out whether cognitive effort-avoidance in patients with schizophrenia can reflect their amotivation.

Methods
In total, 28 patients with schizophrenia and 27 healthy controls were selected as participants. The demand selection task (DST) was adapted according to the feedback-based Guilty Knowledge Test (GKT) delayed response paradigm, which was combined with the mean amplitude of contingent negative variation (CNV), considered as the criterion of motivation.

Results
Our results showed that: (1) patients with schizophrenia showed a lower CNV amplitude for the target stimuli compared to the probe stimuli, whereas the control group showed the opposite trend (P < 0.05); (2) among patients with schizophrenia, the high cognitive effort-avoidance group showed a smaller CNV amplitude for the target stimuli compared to the probe stimuli, whereas the low cognitive effort avoidance group showed a higher CNV amplitude for the target stimuli compared to the probe stimuli; the opposite trend was observed in the control group (P < 0.05).

Conclusion
These findings support the claim that CNV amplitude can be used as a criterion for detecting amotivation in patients with schizophrenia. Within the context of the DST, the high and low cognitive effort-avoidance of patients with schizophrenia can reflect their state of amotivation; patients with high cognitive effort-avoidance showed severe amotivation.
The effect of occupational stress on depression and insomnia: a cross-sectional study among employees in a Ghanaian telecommunication company
Authors: Kploanyi Emma Edinam , Dwomoh Duah , Dzodzomenyo Mawuli 
Published: July 2020

Abstract
Background
Depression and insomnia are major psychiatric conditions predicted by occupational stress. However, the influence of occupational stress on these two conditions is under-explored in telecommunication companies, especially in Africa. This research was conducted to assess occupational stress in a Ghanaian telecommunication company and its effect on depression and insomnia.

Methods
An analytical cross-sectional study was conducted among employees at a telecommunication company in Accra. Structured self-administered questionnaires were used in collecting data from 235 respondents using simple random sampling. The Chi-square test of independence and Wilcoxon Rank-Sum test were employed to assess the significance of associations with subsequent sensitivity analysis using Multiple logistic, Poisson and Probit regression models. Occupational stress was matched on four variables: age of the workers, marital status, responsibility for dependents and work experience, to improve on the estimation of its impact on symptomatic depression and insomnia using the coarsened exact matching procedure.

Results
More males (52.8%) than females participated in this study. The age range for study participants was 20–49 years with a mean of 30.8 ± 6.9 years. The prevalence of excessive occupational stress reported by the employees was 32.8% (95% CI = 26.7–38.8). More than half of respondents (51%) reported depressive symptoms in the past week and only a few (6%) reported being diagnosed with insomnia in the past year. Age, responsibility for dependents and work experience were the only background characteristics that were significantly associated with excessive occupational stress. After controlling for background characteristics, the estimated risk of reporting symptoms of depression among employees who reported excessive stress from work was only 5% higher [ARR; 95% CI = 1.05 (0.94–1.17)] whereas it was 2.58 times the risk of reporting insomnia [ARR; 95% CI = 2.58(0.83–8.00)] compared to those who did not report excessive stress from their jobs. The relative risk reduced to 2.46[ARR; 95% CI = 2.46(0.77–7.87)] and 1.03[ARR; 95% CI = 1.03(0.91–1.17)] for insomnia and depression respectively after employing Poisson regression with CEM.

Conclusion
The study found a higher risk of insomnia among employees who reported excessive occupational stress compared to those who did not. However, this study did not find a statistically significant relationship between depression and occupational stress.
Adult spinal deformity and its relationship with height loss: a 34-year longitudinal cohort study
Authors: Shimizu Mutsuya , Kobayashi Tetsuya , Chiba Hisashi , Senoo Issei , Ito Hiroshi , Matsukura Keisuke , Saito Senri 
Published: July 2020

Abstract
Background
Age-related height loss is a normal physical change that occurs in all individuals over 50 years of age. Although many epidemiological studies on height loss have been conducted worldwide, none have been long-term longitudinal epidemiological studies spanning over 30 years. This study was designed to investigate changes in adult spinal deformity and examine the relationship between adult spinal deformity and height loss.

Methods
Fifty-three local healthy subjects (32 men, 21 women) from Furano, Hokkaido, Japan, volunteered for this longitudinal cohort study. Their heights were measured in 1983 and again in 2017. Spino-pelvic parameters were compared between measurements obtained in 1983 and 2017. Individuals with height loss were then divided into two groups, those with degenerative spondylosis and those with degenerative lumbar scoliosis, and different characteristics were compared between the two groups.

Results
The mean age of the subjects was 44.4 (31–55) years at baseline and 78.6 (65–89) years at the final follow-up. The mean height was 157.4 cm at baseline and 153.6 cm at the final follow-up, with a mean height loss of 3.8 cm over 34.2 years. All parameters except for thoracic kyphosis were significantly different between measurements taken in 1983 and 2017 (p < 0.05). Height loss in both sexes was related to changes in pelvic parameters including pelvic incidence-lumbar lordosis (R = 0.460 p = 0.008 in men, R = 0.553 p = 0.012 in women), pelvic tilt (R = 0.374 p = 0.035 in men, R = 0.540 p = 0.014 in women), and sagittal vertical axis (R = 0.535 p = 0.002 in men, R = 0.527 p = 0.017 in women). Greater height loss was more commonly seen in women (p = 0.001) and in patients with degenerative lumbar scoliosis (p = 0.02).

Conclusions
This longitudinal study revealed that height loss is more commonly observed in women and is associated with adult spinal deformity and degenerative lumbar scoliosis. Height loss is a normal physical change with aging, but excessive height loss is due to spinal kyphosis and scoliosis leading to spinal malalignment. Our findings suggest that height loss might be an early physical symptom for spinal malalignment.
A 3D-printed, personalized, biomechanics-specific beta-tricalcium phosphate bioceramic rod system: personalized treatment strategy for patients with femoral shaft non-union based on finite element analysis
Authors: Lu Jian , Wang Qi-Yang , Sheng Jia-Gen , Guo Shang-Chun , Tao Shi-Cong 
Published: July 2020

Abstract
Background
Although double-plate fixation (DP), i.e., fixation with a combination of a main lateral plate (LP) and a support medial plate (MP), is a relatively mature method for treating femoral shaft non-union with bone defect causes complications. The purpose of this study was to evaluate LP fixation with a 3D-printed, personalized, biomechanics-specific β-TCP bioceramic rod system (LP + 3DpbsBRS) as an alternative with less collateral damage.

Methods
Structure-specific finite element modelling was used to simulate femoral shaft non-union with bone defects and treatment with an LP only as the blank control. Then, the peak von Mises stress (VMS), the VMS distribution, and the plate displacement were determined to compare the effectiveness of LP + CBG (cancellous bone grafting), DP + CBG, and LP + 3DpbsBRS under 850 N of axial force.

Results
Our results indicated that the peak VMS was 260.2 MPa (LP + 3DpbsBRS), 249.6 MPa (MP in DP + CBG), 249.3 MPa (LP in DP + CBG), and 502.4 MPa (LP + CBG). The bending angle of the plate was 1.2° versus 1.0° versus 1.1° versus 2.3° (LP + 3DpbsBRS versus MP in DP + CBG versus LP in DP + CBG versus LP + CBG).

Conclusion
The 3DpbsBRS in the LP + 3DpbsBRS group could replace the MP in the DP + CBG group by providing similar medial mechanical support. Furthermore, avoiding the use of an MP provides better protection of the soft tissue and vasculature.
Perceptions and practices of spiritual care among hospice physicians and nurses in a Taiwanese tertiary hospital: a qualitative study
Authors: Tao Zoe , Wu Poshu , Luo Amber , Ho Tzu-Lin , Chen Ching-Yu , Cheng Shao-Yi 
Published: July 2020

Abstract
Background
Spiritual care is frequently cited as a key component of hospice care in Taiwanese healthcare and beyond. The aim of this research is to gauge physicians and nurses’ self-reported perspectives and clinical practices on the roles of their professions in addressing spiritual care in an inpatient palliative care unit in a tertiary hospital with Buddhist origins.

Methods
We performed semi-structured interviews with physicians and nurses working in hospice care over a year on their self-reported experiences in inpatient spiritual care. We utilized a directed approach to qualitative content analysis to identify themes emerging from interviews.

Results
Most participants identified as neither spiritual nor religious. Themes in defining spiritual care, spiritual distress, and spiritual care challenges included understanding patient values and beliefs, fear of the afterlife and repercussions of poor family relationships, difficulties in communication, the patient’s medical state, and a perceived lack of preparedness and time to deliver spiritual care.

Conclusions
Our study suggests that Taiwanese physicians and nurses overall find spiritual care difficult to define in practice and base perceptions and practices of spiritual care largely on patient’s emotional and physical needs. Spiritual care is also burdened logistically by difficulties in navigating family and cultural dynamics, such as speaking openly about death. More research on spiritual care in Taiwan is needed to define the appropriate training, practice, and associated challenges in provision of spiritual care.
Evaluating assessment tools of the quality of clinical ethics consultations: a systematic scoping review from 1992 to 2019
Authors: Yoon Nicholas Yue Shuen , Ong Yun Ting , Yap Hong Wei , Tay Kuang Teck , Lim Elijah Gin , Cheong Clarissa Wei Shuen , Lim Wei Qiang , Chin Annelissa Mien Chew , Toh Ying Pin , Chiam Min , Mason Stephen , Krishna Lalit Kumar Radha 
Published: July 2020

AbstractBackgroundAmidst expanding roles in education and policy making, questions have been raised about the ability of Clinical Ethics Committees (CEC) s to carry out effective ethics consultations (CECons). However recent reviews of CECs suggest that there is no uniformity to CECons and no effective means of assessing the quality of CECons. To address this gap a systematic scoping review of prevailing tools used to assess CECons was performed to foreground and guide the design of a tool to evaluate the quality of CECons.MethodsGuided by Levac et al’s (2010) methodological framework for conducting scoping reviews, the research team performed independent literature reviews of accounts of assessments of CECons published in six databases. The included articles were independently analyzed using content and thematic analysis to enhance the validity of the findings.ResultsNine thousand sixty-six abstracts were identified, 617 full-text articles were reviewed, 104 articles were analyzed and four themes were identified – the purpose of the CECons evaluation, the various domains assessed, the methods of assessment used and the long-term impact of these evaluations.ConclusionThis review found prevailing assessments of CECons to be piecemeal due to variable goals, contextual factors and practical limitations. The diversity in domains assessed and tools used foregrounds the lack of minimum standards upheld to ensure baseline efficacy.To advance a contextually appropriate, culturally sensitive, program specific assessment tool to assess CECons, clear structural and competency guidelines must be established in the curation of CECons programs, to evaluate their true efficacy and maintain clinical, legal and ethical standards.
Financing of physical rehabilitation services in Iran: a stakeholder and social network analysis
Authors: Shahabi Saeed , Ahmadi Teymourlouy Ahmad , Shabaninejad Hosein , Kamali Mohammad , Lankarani Kamran Bagheri 
Published: July 2020

Abstract
Background
Inadequate financing is one of the major barriers in securing equitable access to high-quality physical rehabilitation services, without imposing financial hardship. Despite this, no sufficient attention has been paid to physical rehabilitation services and no specific financial resources have been allocated to such services in many countries including Iran. Owing to the fact that effective decision- and policy-making requires identifying possible stakeholders and actors and their characteristics, in the current study a stakeholder analysis and also a social network analysis (SNA) was conducted to identify the potential stakeholders and also their characteristics involved in physical rehabilitation financing (PRF)-related policies in Iran.

Methods
The present study was performed in two phases. Firstly, semi-structured interviews and relevant document review were conducted to identify the stakeholders. Then, the position, power, interest, and influence of each stakeholder were determined using a web-based questionnaire. Secondly, SNA approach was utilized to map and visualize the interactions among stakeholders.

Results
The findings showed that there are different stakeholders in PRF-related decision- and policy-making processes in Iran. In addition, the position, power, interest, and influence level of the identified stakeholders were varied. Moreover, although some stakeholders, like the Ministry of Health and the parliament have the highest level of power and position, they lack sufficient interest to participate in PRF-policies. Furthermore, SNA demonstrated that social network density was low, which indicates the lack of proper collaboration and interaction among the stakeholders.

Conclusion
As many powerful and influential stakeholders had low interest levels to warrant participate in the FPR-related decision- and policy-making processes in Iran, employing careful and effective strategies, that is ongoing negotiations, receiving advocacy, and making senior managers and policy-makers aware can be helpful.
Genomic profiling of colorectal cancer with isolated lung metastasis
Authors: Zhang Nan , Di Jiabo , Wang Zaozao , Gao Pin , Jiang Beihai , Su Xiangqian 
Published: July 2020

Abstract
Background
Metastasis is a major cause of failed colorectal cancer (CRC) treatment. While lung metastasis (LM) is observed in 10–15% of patients with CRC, the genetic mechanisms that cause CRC to metastasize to the lung remain unclear.

Methods
In this study, we employed whole exome sequencing (WES) of primary CRC tumors and matched isolated LM lesions to compare their genomic profiles. Comprehensive genomic analyses of five freshly frozen primary tumor lesions, five paired LM lesions, and matched non-cancerous tissues was achieved by WES.

Results
An integrated analysis of somatic mutations, somatic copy number alterations, and clonal structures revealed that genomic alterations were present in primary and metastatic CRCs with various levels of discordance, indicating substantial levels of intertumor heterogeneity. Moreover, our results suggest that the founder clone of the primary tumor was responsible for the formation of the metastatic lesion. Additionally, only a few metastasis-specific mutations were identified, suggesting that LM-promoting mutations might be pre-existing in primary tumors.

Conclusions
Primary and metastatic CRC show intertumor heterogeneity; however, both lesions were founded by the same clone. These results indicate that malignant clones contributing to disease progression should be identified during the genetic prognosis of cancer metastasis.
Opportunities for gender transformative approaches in a community-based drowning reduction program in Bangladesh
Authors: Gupta M. , Rahman A. , Dutta N. C. , Nambiar D. , Ivers R. , Jagnoor J. 
Published: July 2020

Abstract
Background
Community-based programs in rural low-and middle-income country settings are well-placed to conduct gender transformative activities that aid program sustainability and catalyse wider social change, such as reducing gender inequities that in turn improve health outcomes. The Anchal program is a drowning prevention intervention for children aged 1–5 years old in rural Bangladesh. It provides community crèche-based supervision delivered by local trained paid-female volunteers. We aimed to identify the influence of the Anchal program on gender norms and behaviours in the community context, and the effects these had on program delivery and men and women’s outcomes.

Methods
Qualitative in-depth interviews, focus group discussions and observations were conducted with program beneficiaries and providers. Gender outcomes were analysed using FHI 360’s Gender Integration Framework.

Results
The Anchal program was found to be a gender accommodating program as it catered for communities’ gender-based roles and constraints but did not actively seek to change underlying beliefs, perceptions and norms that led to these. The program in some cases enhanced the independence and status of female community staff. This changed perceptions of communities towards acceptable levels of physical mobility and community involvement for women. Conversely, gender affected program delivery by reducing the ability of female supervisory staff to engage with male community leaders. The double burden of wage and household labour carried by local female staff also limited performance and progression. Gender-based constraints on staff performance, attrition and community engagement affected efficiency of program delivery and sustainability.

Conclusions
The Anchal program both adapted to and shaped community gender norms and roles. The program has well-established relationships in the community and can be leveraged to implement gender transformative activities to improve gender-based equity. Health programs can broaden their impacts and target social determinants of health like gender equity to increase program sustainability and promote equitable health outcomes.