bluuebunny/crossref_metadata_2025_split huggingface dataset:
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature
Authors: Kumar Kishore , Bellad Anikha , Prasad Pramada , Girimaji Satish Chandra , Muthusamy Babylakshmi 
Published: June 2020

Abstract
Background
Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecular cause for Alkuraya-Kučinskas syndrome. Most of the reported mutations in KIAA1109 gene result in premature termination of pregnancies or neonatal deaths while a few mutations have been reported in surviving patients with global developmental delay and intellectual disability. To our knowledge, only three surviving patients from two families have been reported with missense variants in KIAA1109. In this study, we describe four surviving patients from two related families (a multiplex family) with global developmental delay and mild to severe intellectual disability with no other systemic manifestations. There were no miscarriages or neonatal deaths reported in these families.

Methods
X-chromosome exome panel sequencing was carried out in one patient and whole exome sequencing was carried out on the remaining three affected individuals and the unaffected father of the index family. Data analysis was carried out followed by variant filtering and segregation analysis. Sanger sequencing was carried out to validate the segregation of mutation in all four affected siblings and unaffected parents from both families.

Results
A novel homozygous missense mutation in a conserved region of KIAA1109 protein was identified. Sanger sequencing confirmed the segregation of mutation in both families in an autosomal recessive fashion.

Conclusion
Our study is the second study reporting a KIAA1109 variant in surviving patients with Alkuraya-Kučinskas syndrome. Our study expands the spectrum of phenotypic features and mutations associated with Alkuraya-Kučinskas syndrome.
Chronic drug treatment among hemodialysis patients: a qualitative study of patients, nursing and medical staff attitudes and approaches
Authors: Gilad Lee , Haviv Yosef S. , Cohen-Glickman Inbal , Chinitz David , Cohen Matan J. 
Published: June 2020

Abstract
Background
Dialysis patients have a high pill burden, increasing their care complexity. A previous study in our institution’s dialysis unit found notable discrepancies between medication prescriptions, purchases and patient reports of medication use: overall adherence to medication was 57%, on average; staff reported patients took 3.1 more medication types than actual purchases; concordance of patient purchases and nurse reports was found in 5.7 out of 23.6 months of patient follow-up. We sought to investigate patients and staff concepts and attitudes regarding medication care and to understand better the previously identified inconsistencies.

Methods
We performed a qualitative research based on the grounded theory approach, using semi-structured, in-depth, interviews with patients and staff from the same dialysis unit studied previously, at the Hadassah Medical Center, Jerusalem, Israel.

Results
Though all respondents described a seemingly synchronized system of care, repeated questioning revealed that staff distrust patient medication reports. Patients, on their part, felt that their monitoring and supervision were bothersome and belittling. Along with patients, nurses and physicians, we identified a “fourth” factor, which influences medication care – the laboratory tests. They serve both as biological parameters of health, but also as parameters of patient adherence to the prescribed medication regimens.

Conclusions
Participant responses did not clearly resonate with previous findings from the quantitative study. The central role of laboratory tests should be carefully considered by the staff when interacting with patients. An interaction process, less adversarial, centering on the patient attitudes to medication care, might establish better communication, better cooperation and better patient outcomes.
Imaging features and prognostic value of 18F-FDG PET/CT detection of soft-tissue metastasis from lung cancer: a retrospective study
Authors: Xu Tingting , Zhang Xinyi , Zhang Shumao , Liu Chunfeng , Fu Wenhui , Zeng Chengrun , Chen Yue 
Published: June 2020

Abstract
Background
Soft-tissue metastasis (STM) is a relatively rare, but not exceptional, manifestation of lung cancer. The purpose of this study was to evaluate the imaging features of STM from lung cancer using fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT), and assess the impact of STM detected at baseline PET/CT on patient survival.

Methods
Out of 4543 patients with lung cancer who underwent 18F-FDG PET/CT in our hospital between January 2013 and September 2018, 85 were diagnosed with STM (78 at baseline PET/CT and 7 at restaging PET/CT) and included in the imaging study. We conducted a comparative survival analysis between patients with stage 4 lung cancer with and without STM at baseline PET/CT (n = 78 in each group) and performed univariate and multivariate analyses to investigate the factors affecting the prognosis of lung cancer.

Results
A total of 219 lesions were identified by 18F-FDG PET/CT: 215 were detected by PET and 139 by CT. Muscle STM were primarily found in the hip and upper limb muscle, whereas subcutaneous STM were mainly distributed in the chest, abdomen, and back. In 68 patients, STM were found incidentally during routine 18F-FDG PET/CT staging. Isolated STM were detected in 6 patients, whose tumor staging and treatment were affected by PET/CT findings. There were no significant differences in the 1-, 3-, and 5-year survival rates between patients with and without STM at baseline PET/CT. Brain and adrenal metastases, but not STM, were associated with poor prognosis of stage 4 lung cancer.

Conclusions
We described the PET/CT imaging characteristics of STM from lung cancer, and confirmed that PET/CT can detect unsuspected STM to change the staging and treatment of some patients. Our analysis indicates that STM is not a useful prognostic indicator for patients with advanced lung cancer, while brain and adrenal metastases portend a poor prognosis.
Cost-effectiveness analysis of proton beam therapy for treatment decision making in paranasal sinus and nasal cavity cancers in China
Authors: Li Guo , Qiu Bo , Huang Yi-Xiang , Doyen Jerome , Bondiau Pierre-Yves , Benezery Karen , Xia Yun-Fei , Qian Chao-Nan 
Published: June 2020

Abstract
Background
Cost-effectiveness is a pivotal consideration for clinical decision making of high-tech cancer treatment in developing countries. Intensity-modulated proton radiation therapy (IMPT, the advanced form of proton beam therapy) has been found to improve the prognosis of the patients with paranasal sinus and nasal cavity cancers compared with intensity-modulated photon-radiation therapy (IMRT). However, the cost-effectiveness of IMPT has not yet been fully evaluated. This study aimed at evaluating the cost-effectiveness of IMPT versus IMRT for treatment decision making of paranasal sinus and nasal cavity cancers in Chinese settings.

Methods
A 3-state Markov model was designed for cost-effectiveness analysis. A base case evaluation was performed on a patient of 47-year-old (median age of patients with paranasal sinus and nasal cavity cancers in China). Model robustness was examined by probabilistic sensitivity analysis, Markov cohort analysis and Tornado diagram. Cost-effective scenarios of IMPT were further identified by one-way sensitivity analyses and stratified analyses were performed for different age levels. The outcome measure of the model was the incremental cost-effectiveness ratio (ICER). A strategy was defined as cost-effective if the ICER was below the societal willingness-to-pay (WTP) threshold of China (30,828 US dollars ($) / quality-adjusted life year (QALY)).

Results
IMPT was identified as being cost-effective for the base case at the WTP of China, providing an extra 1.65 QALYs at an additional cost of $38,928.7 compared with IMRT, and had an ICER of $23,611.2 / QALY. Of note, cost-effective scenarios of IMPT only existed in the following independent conditions: probability of IMPT eradicating cancer ≥0.867; probability of IMRT eradicating cancer ≤0.764; or cost of IMPT ≤ $52,163.9. Stratified analyses for different age levels demonstrated that IMPT was more cost-effective in younger patients than older patients, and was cost-effective only in patients ≤56-year-old.

Conclusions
Despite initially regarded as bearing high treatment cost, IMPT could still be cost-effective for patients with paranasal sinus and nasal cavity cancers in China. The tumor control superiority of IMPT over IMRT and the patient’s age should be the principal considerations for clinical decision of prescribing this new irradiation technique.
Cultural adaptation of the mental health first aid guidelines for depression used in English-speaking countries for China: a Delphi expert consensus study
Authors: Lu Shurong , Li Wenjing , Oldenburg Brian , Wang Yan , Jorm Anthony F. , He Yanling , Reavley Nicola J. 
Published: June 2020

AbstractBackgroundMost people who meet the criteria for a diagnosis of depression in China do not receive treatment.Family and friends can play a role in recognising the signs of depression and encouraging the person to seek treatment. However, many of them may lack the knowledge and skills to offer such help. The aim of this study was to culturally adapt the existing English-language mental health first aid (MHFA) guidelines for helping a person with depression to the Chinese context.MethodsA Delphi expert consensus study was conducted, in which two Chinese expert panels of mental health professionals (with experience in the field of clinical management of depression,n = 37) and consumers and carers (with lived experience,n = 30) rated the importance of actions that could be taken to help a person experiencing depression in mainland China.ResultsData were collected over 3 survey rounds. In the 1st round questionnaire, 175 statements translated into Chinese from the English-language guidelines were presented to the expert panels and 12 new statements were generated from panellists’ comments. Of these 187 statements, 173 were endorsed for inclusion in the adapted guidelines for China.ConclusionsAlthough the adapted guidelines were still quite similar to the guidelines for English-speaking countries, they also incorporated some new actions for the Chinese context, including those relating to different ways of respecting the autonomy of a person with depression and the role of their families. Further research is needed to explore the use of these guidelines by the Chinese public, including how they may be incorporated in Mental Health First Aid training.
Leisure time physical activity and depressive symptoms among adolescents in Sweden
Authors: Ma Li , Hagquist Curt , Kleppang Annette Løvheim 
Published: June 2020

Abstract
Background
Mental health problems have increased noticeably among adolescents. Physical activity has been identified as an important factor in the promotion of mental health. The purpose of this study was to explore how leisure time physical activity was associated with depressive symptoms among adolescents in Sweden.

Methods
Using binary logistic regression we analyzed Swedish data collected as part of the Children of Immigrants: Longitudinal Survey in Four European Countries. The complete sample used for analysis consisted of 3787 adolescents (including 1855 boys and 1932 girls).

Results
Adolescents who participated in physical activity during their leisure time on a daily, weekly, or monthly basis had substantially lower odds of often feeling depressed than those who were physically inactive. This pattern applied to both boys and girls. Relative to boys, girls had significantly higher odds of often feeling depressed.

Conclusions
The findings of this study suggested that participation in physical activity regularly during leisure time was associated with a lower level of depressive symptoms among adolescents in Sweden. Because of the cross-sectional study design conclusions about causality cannot be drawn. Future research based on longitudinal data is needed to further explore the mechanisms behind the association. This study calls for recognition of the value of physical activity in promoting mental health among adolescents.
A scoping review of evaluation frameworks and their applicability to real-world physical activity and dietary change programme evaluation
Authors: Fynn Judith F. , Hardeman Wendy , Milton Karen , Jones Andy P. 
Published: June 2020

Abstract
Background
Physical activity and dietary change programmes play a central role in addressing public health priorities. Programme evaluation contributes to the evidence-base about these programmes; and helps justify and inform policy, programme and funding decisions. A range of evaluation frameworks have been published, but there is uncertainty about their usability and applicability to different programmes and evaluation objectives, and the extent to which they are appropriate for practitioner-led or researcher-led evaluation. This review appraises the frameworks that may be applicable to evaluation of physical activity and/or dietary change programmes, and develops a typology of the frameworks to help guide decision making by practitioners, commissioners and evaluators.

Methods
A scoping review approach was used. This included a systematic search and consultation with evaluation experts to identify evaluation frameworks and to develop a set of evaluation components to appraise them. Data related to each framework’s general characteristics and components were extracted. This was used to construct a typology of the frameworks based on their intended programme type, evaluation objective and format. Each framework was then mapped against the evaluation components to generate an overview of the guidance included within each framework.

Results
The review identified 71 frameworks. These were described variously in terms of purpose, content, or applicability to different programme contexts. The mapping of frameworks highlighted areas of overlap and strengths and limitations in the available guidance. Gaps within the frameworks which may warrant further development included guidance on participatory approaches, non-health and unanticipated outcomes, wider contextual and implementation factors, and sustainability.

Conclusions
Our typology and mapping signpost to frameworks where guidance on specific components can be found, where there is overlap, and where there are gaps in the guidance. Practitioners and evaluators can use these to identify, agree upon and apply appropriate frameworks. Researchers can use them to identify evaluation components where there is already guidance available and where further development may be useful. This should help focus research efforts where it is most needed and promote the uptake and use of evaluation frameworks in practice to improve the quality of evaluation and reporting.
Social and economic development and pregnancy mental health: secondary analyses of data from rural Vietnam
Authors: Stocker Ruby , Nguyen Trang , Tran Thach , Tran Ha , Tran Tuan , Hanieh Sarah , Biggs Beverley-Ann , Fisher Jane 
Published: June 2020

Abstract
Background
This study aimed to establish whether changes in the socioeconomic context were associated with changes in population-level antenatal mental health indicators in Vietnam.

Methods
Social, economic and public policies introduced in Vietnam (1986–2010) were mapped. Secondary analyses of data from two cross-sectional community-based studies conducted in 2006 (n = 134) and 2010 (n = 419), involving women who were ≥ 28 weeks pregnant were completed. Data for these two studies had been collected in structured individual face-to-face interviews, and included indicators of antenatal mental health (mean Edinburgh Postnatal Depression Scale Vietnam-validation (EPDS-V) score), intimate partner relationships (Intimate Bonds Measure Vietnam-validation) and sociodemographic characteristics. Socioeconomic characteristics and mean EPDS-V scores in the two study years were compared and mediation analyses were used to establish whether indicators of social and economic development mediated differences in EPDS-V scores.

Results
Major policy initiatives for poverty reduction, hunger eradication and making domestic violence a crime were implemented between 2006 and 2010. Characteristics and circumstances of pregnant women in Ha Nam improved significantly. Mean EPDS-V score was lower in 2010, indicating better population-level antenatal mental health. Household wealth and intimate partner controlling behaviours mediated the difference in EPDS-V scores between 2006 and 2010.

Conclusions
Changes in the socioeconomic and political context, particularly through policies to improve household wealth and reduce domestic violence, appear to influence women’s lives and population-level antenatal mental health. Cross-sectoral policies that reduce social risk factors may be a powerful mechanism to improve antenatal mental health at a population level.
Incorporating competing risk theory into evaluations of changes in cancer survival: making the most of cause of death and routinely linked sociodemographic data
Authors: Wright Cameron M. , Nowak Anna K. , Halkett Georgia , Moorin Rachael E. 
Published: June 2020

Abstract
Background
Relative survival is the most common method used for measuring survival from population-based registries. However, the relative survival concept of ‘survival as far as the cancer is concerned’ can be biased due to differing non-cancer risk of death in the population with cancer (competing risks). Furthermore, while relative survival can be stratified or standardised, for example by sex or age, adjustment for a broad range of sociodemographic variables potentially influencing survival is not possible. In this paper we propose Fine and Gray competing risks multivariable regression as a method that can assess the probability of death from cancer, incorporating competing risks and adjusting for sociodemographic confounders.

Methods
We used whole of population, person-level routinely linked Western Australian cancer registry and mortality data for individuals diagnosed from 1983 to 2011 for major cancer types combined, female breast, colorectal, prostate, lung and pancreatic cancers, and grade IV glioma. The probability of death from the index cancer (cancer death) was evaluated using Fine and Gray competing risks regression, adjusting for age, sex, Indigenous status, socio-economic status, accessibility to services, time sub-period and (for all cancers combined) cancer type.

Results
When comparing diagnoses in 2008–2011 to 1983–1987, we observed substantial decreases in the rate of cancer death for major cancer types combined (N = 192,641, − 31%), female breast (− 37%), prostate (− 76%) and colorectal cancers (− 37%). In contrast, improvements in pancreatic (− 15%) and lung cancers (− 9%), and grade IV glioma (− 24%) were less and the cumulative probability of cancer death for these cancer types remained high.

Conclusion
Considering the justifiable expectation for confounder adjustment in observational epidemiological studies, standard methods for tracking population-level changes in cancer survival are simplistic. This study demonstrates how competing risks and sociodemographic covariates can be incorporated using readily available software. While cancer has been focused on here, this technique has potential utility in survival analysis for other disease states.
Geographic and socioeconomic disparity in cardiovascular risk factors in Indonesia: analysis of the Basic Health Research 2018
Authors: Adisasmito Wiku , Amir Vilda , Atin Anila , Megraini Amila , Kusuma Dian 
Published: June 2020

Abstract
Background
Cardiovascular diseases (CVDs) accounted for over 17 million deaths and 353 million disability-adjusted life years lost in 2016. The risk factors are also high and increasing with high blood pressure, smoking, and high body mass index contributed to up to 212 million disability-adjusted life years in 2016. To help reduce the burden, it is crucial to understand the geographic and socioeconomic disparities in CVD risk factors.

Methods
Employing both geospatial and quantitative analyses, we analyzed the disparities in the prevalence of smoking, physical inactivity, obesity, hypertension, and diabetes in Indonesia. CVD data was from Riskesdas 2018, and socioeconomic data was from the World Bank.

Results
Our findings show a very high prevalence of CVD risk factors with the prevalence of smoking, physical activity, obesity, hypertension ranged from 28 to 33%. Results also show the geographic disparity in CVD risk factors in all five Indonesian regions. Moreover, results show socioeconomic disparity with the prevalence of obesity, hypertension, and diabetes are higher among urban and the richest and most educated districts while that physical inactivity and smoking is higher among rural and the least educated districts.

Conclusion
The CVD burden is high and increasing in particularly among urban areas and districts with higher income and education levels. While the government needs to continue tackling the persistent burden from maternal mortality and infectious diseases, they need to put more effort into the prevention and control of CVDs and their risk factors.
“You talk about problems until you feel free”: South African adolescent girls’ and young women’s narratives on the value of HIV prevention peer support clubs
Authors: Baron Deborah , Scorgie Fiona , Ramskin Lethabo , Khoza Nomhle , Schutzman Jennifer , Stangl Anne , Harvey Sheila , Delany-Moretlwe Sinead ,   for the EMPOWER study team
Published: June 2020

Abstract
Background
Daily oral pre-exposure prophylaxis (PrEP) can reduce HIV infection in adolescent girls and young women if used consistently during periods of risk. The EMPOWER study evaluated peer-based clubs incorporating an empowerment curriculum offered to adolescent girls and young women (16–24 years) in South Africa and Tanzania for adherence support.

Methods
Using serial in-depth interviews (n = 33), we assessed the benefits and challenges of club attendance among 13 EMPOWER participants in the Johannesburg site who were randomised to clubs. We used a summary matrix of coded data to support a narrative, case-based analysis. Four case studies are presented.

Results
Club participants reported benefits such as increased self-esteem and self-efficacy, reduced isolation, and greater insight into gender-based violence and strategies to address it. Day-to-day PrEP adherence was not the only topic discussed in clubs; participants also appreciated the safe space for sharing problems (such as relationship conflict and PrEP stigma) and found interactive exercises helpful in improving partner communication.

Conclusions
Findings support the use of peer-based clubs using a structured empowerment approach, which may offer valuable PrEP initiation support to adolescent girls and young women in settings with high HIV and gender-based violence prevalence.

Trial registration
Pan African Clinical Trials Registry PACTR202006754762723, 5 April 2020, retrospectively registered.