bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis
Authors: Zhang Yan , Zhang Yi , Zhang Victor Wei , Zhang Chunyi , Ding Hongke , Yin Aihua 
Published: October 2019

Abstract

Background
Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare.

Case presentation
We describe a case of neonatal male with genital anomalies, growth delay, skin hyperpigmentation, chronic lung disease with recurrent infection, anemia, and severe deafness. Without any clear etiology after routine workflow, whole exome sequencing was carried on. A pathogenic de novo SAMD9 mutation and compound heterozygous likely-pathogenic variants in SLC19A2 were identified. Some symptoms were improved after the patient was treated with vitamin B1. Unfortunately, the boy died from sepsis and multiple organ failure before 1 year old.

Conclusion
Combining the phenotype and clinical progress of treatment, we report that it is the first case of a patient with both MIRAGE syndrome and TRMA syndrome.
Community based integrated vector management for malaria control: lessons from three years’ experience (2016–2018) in Botor-Tolay district, southwestern Ethiopia
Authors: Asale Abebe , Kussa Dereje , Girma Melaku , Mbogo Charles , Mutero Clifford Maina 
Published: October 2019

Abstract

Background
Integrated vector management (IVM) remains a key strategy in the fight against vector-borne diseases including malaria. However, impacts of the strategy should be regularly monitored based on feedback obtained through research. The objective of this study was to assess the impact of IVM for malaria control in Botor-Tolay district, southwestern Ethiopia after three years (2016–2018) of IVM implementation.

Method
Prior to the implementation of IVM, a survey of socio-demographic, malaria burden, and communities’ perception towards malaria control was conducted in 200 households selected at random from 12 villages using standard questionnaire. Households were revisited after three years of project implementation for impact assessment. Compiled malaria case data was obtained from district health bureau for the three years period of the study while adult mosquito collection was conducted during each year using CDC light traps. Monthly larval mosquito collections were made each year using standard dipping method. Community education and mobilization (CEM) was made through different community-based structures.

Results
The proportion of respondents who sought treatment in health facilities showed a significant increase from 76% in 2015 to 90% in 2018(P < 0.001). An average of 6.3 working and 2.3 school days were lost per year in a household due to parents and children falling sick with malaria. Malaria costs in a household in Botor-Tolay averaged 13.3 and 4.5 USD per episode for medical treatment and transportation respectively. Significantly fewer adult mosquitoes were collected in 2018 (0.37/house/trap-night) as compared to 2015 (0.73/house/trap-night) (P < .001). Malaria cases significantly declined in 2018 (262) when compared to the record in 2015 (1162) (P < 0.001). Despite improved human behavioral changes towards mosquito and malaria control, there were many setbacks too. These include reluctance to seek treatment in a timely manner, low user compliance of LLINs and low net repairing habit.

Conclusion
The coordinated implementation of community-based education, environmental management, larviciding together with main core vector control interventions in Botor-Tolay district in Southwestern Ethiopia have contributed to significant decline in malaria cases reported from health facilities. However, commitment to seeking treatment by people with clinical symptoms of malaria and to repair of damaged mosquito nets remained low.
Socioeconomic gradient in physical activity: findings from the PERSIAN cohort study
Authors: Kazemi Karyani Ali , Karmi Matin Behzad , Soltani Shahin , Rezaei Satar , Soofi Moslem , Salimi Yahya , Moradinazar Mehdi , Hajizadeh Mohammad , Pasdar Yahya , Hamzeh Behrooz , Barzegar Loghman , Haghdoost Ali Akbar , Malekzadeh Reza , Poustchi Hossein , Mohammadi Zahra , Faramarzi Elnaz , Safarpour Ali Reza , Pourfarzi Farhad , Moosazadeh Mahmood , Nejatizadeh Azim , Farjam Mojtaba , Vahabzadeh Davoud , Ahmadi Ali , Ghorat Fereshteh , Ahmadi Jafar , Mansour-Ghanaei Fariborz , Mirjalili Mohammad Reza , Eslami Saeid , Maharlouei Najmeh , Tabatabaei Seyed Mehdi , Sarvandian Sara , Najafi Farid 
Published: October 2019

Abstract
Background
The level of socioeconomic-related inequality in physical activity in Iran is largely unknown. This study investigates socioeconomic-related inequality in poor-physical activity (PPA) among Iranian adults.

Methods
A total of 129,257 adult participants enrolled in the PERSIAN (Prospective Epidemiological Research Studies in IrAN) Cohort were included in this study. Physical activity of adults was measured using metabolic equivalent rates (METs). Physical activity less than 41 METs/hour/day was considered PPA. The Concentration index (C) was used to quantify socioeconomic-related inequality in PPA. Moreover, the C was decomposed to identify the relative contribution of explanatory variables to inequality in PPA.

Results
There were significant regional variations in physical activity level among Iranian adults (29.8–76.5%). The positive value of C (0.098, 95% CI = 0.092 to 0.104) suggested that the higher concentration of PPA among higher socioeconomic status (SES) adults in Iran which was consistently observed in all cohort sites.

Conclusions
The higher prevalence of PPA among Iranian adults, especially, women and older adults, warrant further public health attention. Since PPA is concentrated more among the high-SES population in Iran, strategies for the promotion of physical activity should focus more on economically well-off population.
Robotic stereotactic ablative radiotherapy for renal cell carcinoma in patients with impaired renal function
Authors: Senger C. , Conti A. , Kluge A. , Pasemann D. , Kufeld M. , Acker G. , Lukas M. , Grün A. , Kalinauskaite G. , Budach V. , Waiser J. , Stromberger C. 
Published: October 2019

Abstract

Background
Robotic stereotactic ablative radiotherapy (SABR) is currently under investigation as a noninvasive treatment option for patients with renal cell carcinoma (RCC). For radiation therapy of RCC, tumor motion and the need for high ablative doses while preserving the remaining renal parenchyma is a challenge. We aimed to analyze the safety and efficacy of robotic radiosurgery in RCC in a specific difficult subgroup of patients with impaired renal function.

Methods
We retrospectively identified all patients with RCC, treated with robotic SABR and motion compensation in our institution between 2012 and 2017. Either single fraction SABR of 24 or 25 Gy or 3 fractions of 12 Gy prescribed to the 70% isodose line was applied. Local control, overall survival, radiation side effects were evaluated together with renal function and tumor motion.

Results
We analyzed data of 13 lesions treated in 10 patients with clear cell RCC and a mean age of 70.5 ± 13.6 years (range: 48–87). Prior to SABR, 8 patients underwent previous complete and/or partial nephrectomy, 7 patients presented with chronic kidney disease ≥ stage 3. The median of minimum, mean and maximum planning target volume doses were 23.2, 29.5 and 35.0 Gy for single fraction and 24.4, 42.5 and 51.4 Gy for the three fractions regime. Persistent local control by robotic SABR was achieved in 9 out of 10 patients (92.3% of all lesions) within a median follow-up period of 27 month (range: 15–54). One patient underwent nephrectomy due to progressive disease and sufficient renal function of the contralateral kidney. Renal function remained stable with a mean estimated glomerular filtration rate (eGFR) of 51.3 ± 19.7 ml/min at baseline and 51.6 ± 25.8 ml/min at follow-up. The largest respiratory-induced tumor motion was seen in superior-inferior direction, compensated by the CyberKnife with mean targeting errors of maximal 2.2 mm.

Conclusions
Robotic SABR is technically feasible for the treatment of RCC in preexisting kidney disease with good local tumor control at about 2 years follow-up. Robotic SABR with motion tracking offers a valid treatment option for patients, who are at increased risk for progression to end-stage renal disease due to partial nephrectomy or ablative techniques.
How do community health actors explain their roles? Exploring the roles of community health actors in promoting maternal health services in rural Ethiopia
Authors: Mamo Abebe , Morankar Sudhakar , Asfaw Shifera , Bergen Nicole , Kulkarni Manisha A. , Abebe Lakew , Labonté Ronald , Birhanu Zewdie , Abera Muluemebet 
Published: October 2019

AbstractBackgroundMaternal and child morbidity and mortality remains one of the most important public health challenges in developing countries. In rural settings, the promotion of household and community health practices through health extension workers in collaboration with other community members is among the key strategies to improve maternal and child health. Little has been studied on the actual roles and contributions of various individuals and groups to date, especially in the rural areas of Ethiopia. In this study, we explored the role played by different actors in promoting ANC, childbirth and early PNC services, and mainly designed to inform a community based Information, Education & Communication intervention in rural Ethiopia.MethodsAn exploratory qualitative study was conducted on 24 in-depth interviews with health extension workers, religious leaders, women developmental army leaders, and selected community members; and 12 focus group discussions, six with female and six with male community members. Data was captured using voice recorders and field notes and transcribed verbatim in English, and analyzed using Atlas.ti software. Ethical approval for the fieldwork was obtained from Jimma University and the University of Ottawa.ResultsParticipants described different roles and responsibilities that individuals and groups have in promoting maternal/child health, as well as the perceived roles of family members/husband. Commonly identified roles included promotion of health care services; provision of continuous support during pregnancy, labour and postnatal care; and serving as a link between the community and the health system. Participants also felt unable to fully engage in their identified roles, describing several challenges existing within both the health system and the community.ConclusionsInvolvement of different actors based on their areas of focus could contribute to community members receiving health information from people they trust more, which in turn is likely to increase use of services. Therefore, if our IEC interventions focus on overcoming challenges that limit actors’ abilities to engage effectively in promoting use of MCH services, it will be feasible and effective in rural settings, and these actors can become an epicenter in providing community based intervention in using ANC, childbirth and early PNC services.
Understanding corporate governance of healthcare quality: a comparative case study of eight Australian public hospitals
Authors: Brown Alison 
Published: October 2019

Abstract

Background
Patients are sometimes harmed in the course of receiving hospital care. Existing research has highlighted a positive association between board engagement in healthcare quality activities and healthcare outcomes. However, most research has been undertaken through surveys examining board engagement in a limited number of governance processes. This paper presents evidence of a comprehensive range of processes related to governing healthcare quality undertaken at the corporate governance level. This provides a more detailed picture than previously described of how corporate governance of healthcare quality is enacted by boards and management.

Methods
A comparative case study of eight Australian public hospitals was undertaken. Case studies varying is size and location were selected from two Australian states. Data collection included a review of key governance documentation, semi structured interviews with board members and senior management and an observation of a board quality committee meeting. Thematic analysis was undertaken to identify processes related to key tasks in governing healthcare quality.

Results
Two key tasks in the corporate governance of healthcare quality, evaluating healthcare quality and overseeing quality priorities, were examined. Numerous processes related to these two tasks were found. Case studies, while found to be similar in engagement on previously identified processes, were found to differ in engagement in these additional processes. While generally low levels of engagement in processes of overseeing quality priorities were found, cases differed markedly in their engagement in evaluating healthcare quality processes. Additional processes undertaken at some case studies represent innovative and mature responses to the need for effective corporate governance of healthcare quality. In addition, a group of processes, related to broader governance taskwork, were found to be important in enabling effective corporate governance of healthcare quality.

Conclusion
The work of governing healthcare quality, undertaken at the corporate governance level, is redefined in terms of these more detailed processes. This paper highlights that it is how well these key tasks are undertaken that is important in effective governance. When processes related to key tasks are omitted, the rituals of governance may appear to be satisfied but the responsibility may not be met. Boards and managers need to differentiate between common approaches to governance and practices that enable the fulfilment of governance responsibilities. This study provides practical guidance in outlining processes for effective corporate governance of healthcare quality and highlights areas for further examination.
Cry for health: a quantitative evaluation of a hospital-based advocacy intervention for domestic violence and abuse
Authors: Halliwell Gemma , Dheensa Sandi , Fenu Elisabetta , Jones Sue K. , Asato Jessica , Jacob Suzanne , Feder Gene 
Published: October 2019

Abstract

Background
Domestic violence and abuse (DVA) damages the health of survivors and increases use of healthcare services. We report findings from a multi-site evaluation of hospital-based advocacy services, designed to support survivors attending emergency departments and maternity services.

Methods
Independent Domestic Violence Advisors (IDVA) were co-located in five UK hospitals. Case-level data were collected at T1 (initial referral) and T2 (case closure) from survivors accessing hospital (T1 N = 692; T2 N = 476) and community IDVA services (T1 N = 3544; T2 N = 2780), used as a comparator. Measures included indicators of sociodemographic characteristics, experience of abuse, health service use, health and safety outcomes. Multivariate analyses tested for differences in changes in abuse, health and factors influencing safety outcomes. Health service use data in the 6 months pre-and post- intervention were compared to generate potential cost savings by hospital IDVA services.

Results
Hospital IDVAs worked with survivors less visible to community IDVA services and facilitated intervention at an earlier point. Hospital IDVAs received higher referrals from health services and enabled access to a greater number of health resources. Hospital survivors were more likely to report greater reductions in and cessation of abuse. No differences were observed in health outcomes for hospital survivors. The odds of safety increased two-fold if hospital survivors received over five contacts with an IDVA or accessed six or more resources / programmes over a longer period of time. Six months preceding IDVA intervention, hospital survivors cost on average £2463 each in use of health services; community survivors cost £533 each. The cost savings observed among hospital survivors amounted to a total of £2050 per patient per year. This offset the average cost of providing hospital IDVA services.

Conclusions
Hospital IDVAs can identify survivors not visible to other services and promote safety through intensive support and access to resources. The co-location of IDVAs within the hospital encouraged referrals to other health services and wider community agencies. Further research is required to establish the cost-effectiveness of hospital IDVA services, however our findings suggest these services could be an efficient use of health service resources.
Age-treatment subgroup analyses in Cochrane intervention reviews: a meta-epidemiological study
Authors: Liu Patrick , Ioannidis John P. A. , Ross Joseph S. , Dhruva Sanket S. , Luxkaranayagam Anita T. , Vasiliou Vasilis , Wallach Joshua D. 
Published: October 2019

Abstract

Background
There is growing interest in evaluating differences in healthcare interventions across routinely collected demographic characteristics. However, individual subgroup analyses in randomized controlled trials are often not prespecified, adjusted for multiple testing, or conducted using the appropriate statistical test for interaction, and therefore frequently lack credibility. Meta-analyses can be used to examine the validity of potential subgroup differences by collating evidence across trials. Here, we characterize the conduct and clinical translation of age-treatment subgroup analyses in Cochrane reviews.

Methods
For a random sample of 928 Cochrane intervention reviews of randomized trials, we determined how often subgroup analyses of age are reported, how often these analyses have a P < 0.05 from formal interaction testing, how frequently subgroup differences first observed in an individual trial are later corroborated by other trials in the same meta-analysis, and how often statistically significant results are included in commonly used clinical management resources (BMJ Best Practice, UpToDate, Cochrane Clinical Answers, Google Scholar, and Google search).

Results
Among 928 Cochrane intervention reviews, 189 (20.4%) included plans to conduct age-treatment subgroup analyses. The vast majority (162 of 189, 85.7%) of the planned analyses were not conducted, commonly because of insufficient trial data. There were 22 reviews that conducted their planned age-treatment subgroup analyses, and another 3 reviews appeared to perform unplanned age-treatment subgroup analyses. These 25 (25 of 928, 2.7%) reviews conducted a total of 97 age-treatment subgroup analyses, of which 65 analyses (in 20 reviews) had non-overlapping subgroup levels. Among the 65 age-treatment subgroup analyses, 14 (21.5%) did not report any formal interaction testing. Seven (10.8%) reported P < 0.05 from formal age-treatment interaction testing; however, none of these seven analyses were in reviews that discussed the potential biological rationale or clinical significance of the subgroup findings or had results that were included in common clinical practice resources.

Conclusion
Age-treatment subgroup analyses in Cochrane intervention reviews were frequently planned but rarely conducted, and implications of detected interactions were not discussed in the reviews or mentioned in common clinical resources. When subgroup analyses are performed, authors should report the findings, compare the results to previous studies, and outline any potential impact on clinical care.
Dietary supplementation of menthol-rich bioactive lipid compounds alters circadian eating behaviour of sheep
Authors: Patra Amlan K. , Geiger Sebastian , Braun Hannah-Sophie , Aschenbach Jörg R. 
Published: October 2019

Abstract

Background
Plant bioactive lipid compounds (PBLC), commonly known as essential oils, are increasingly evaluated as feed additives in ruminants due to beneficial effects on animal performance and health; however, there is no study evaluating circadian eating behaviour in ruminants. Altered eating behaviour may be implicated in changes of feed intake in ruminants. Therefore, the present study investigated the influence of menthol-rich PBLC on circadian eating behaviour in 24 growing sheep that were equally divided into three treatments, control (without PBLC), a lower dose (80 mg/d) or a higher dose (160 mg/d) of PBLC. Daily doses of PBLC were supplied with 600 g/d of concentrates fed in three equal portions at 07:00, 11:00 and 15:00 h for 4 weeks, whereas, meadow hay was fed ad libitum.

Results
The eating behaviour recorded by an automatic transponder-operated feeding system revealed that daily eating time and feeder visits increased with increasing doses of PBLC. The circadian distribution of eating time and feeder visits (with 1-h resolution) was influenced by the treatment. Eating time during concentrate-offering hours and between concentrate-offering hours increased or tended to increase linearly with greater concentrations of PBLC. Feeder visits did not change significantly during concentrate-offering hours, but were greater in the PBLC groups compared with the control between concentrate-feeding hours. Average length of the longest meals (5th percentile) decreased due to PBLC feeding. Daily feed intake was greater in the PBLC groups than the control.

Conclusions
Menthol-rich PBLC in the applied dose range stimulate circadian eating behaviour, which cannot only be attributed to their presence during concentrate feeding hours, but persist during post-concentrate feeding hours.
miR-335-5p inhibits TGF-β1-induced epithelial–mesenchymal transition in non-small cell lung cancer via ROCK1
Authors: Du Wenwen , Tang Haicheng , Lei Zhe , Zhu Jianjie , Zeng Yuanyuan , Liu Zeyi , Huang Jian-an 
Published: October 2019

AbstractBackgroundSignificant evidence has shown that the miRNA pathway is an important component in the downstream signaling cascades of TGF-β1 pathway. Our previous study has indicated that miR-335-5p expression was significantly down-regulated and acted as a vital player in the metastasis of non-small cell lung cancer (NSCLC), however the underlying mechanism remained unclear.MethodsThe differential expression level of miR-335-5p and ROCK1 were determined by qRT-PCR and IHC analysis in human tissue samples with or without lymph node metastasis. Transwell assay was conducted to determine cell ability of migration and invasion. SiRNA interference, microRNA transfection and western blot analysis were utilized to clarify the underlying regulatory mechanism.ResultsWe showed that down-regulated expression of miR-335-5p and up-regulated expression of ROCK1 in NSCLC tissues were associated with lymph node metastasis. Over-expresion of miR-335-5p significantly inhibited TGF-β1-mediated NSCLC migration and invasion. Furthermore, luciferase reporter assays proved that miR-335-5p can bind to 3′-UTR of ROCK1 directly. Moreover, we confirmed that siRNA-mediated silencing of ROCK1 significantly diminished TGF-β1-mediated EMT and migratory and invasive capabilities of A549 and SPC-A1 cells.ConclusionThis is the first time to report that miR-335-5p regulates ROCK1 and impairs its functions, thereby playing a key role in TGF-β1-induced EMT and cell migration and invasion in NSCLC.