bluuebunny/crossref_metadata_2025_split huggingface dataset:
Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family
Authors: Moazzeni Hamidreza , Javadi Mohammad Ali , Asgari Danial , Khani Marzieh , Emami Mohammad , Moghadam Abolfazl , Panahi-Bazaz Mahmoud-Reza , Hosseini Tehrani Mehdi , Karimian Farid , Hosseini Bagher , Nekuie Moghadam Tayebeh , Hassanpour Hossein , Akbari Mohammad Taghi , Elahi Elahe 
Published: August 2019

Background/aimsSLC4A11 is the only known causative gene of congenital hereditary endothelial dystrophy (CHED). Mutation screenings have shown that most but not all patients with CHED harbour mutations in SLC4A11, suggesting that other CHED-causing genes may exist. We aimed to screen SLC4A11 in Iranian patients to learn the mutation spectrum of this gene among Iranians and to gain further knowledge on potential contribution of other genes to CHED aetiology.MethodsSLC4A11 was screened in 21 Iranian patients with CHED by sequencing. Previously unreported variations were checked in at least 200 controls, and segregation analysis within families and bioinformatics predictions on effects of variations were performed. Exome sequencing was done for the single patient without an SLC4A11 mutation and for her parents.ResultsNine previously reported and 10 unreported SLC4A11 mutations were observed among 20 patients; a mutation was not found in one patient. A mutation in MPDZ was identified as the only candidate cause of CHED in this patient. Her mother who carried the same mutation was diagnosed with Fuchs endothelial corneal dystrophy (FECD).ConclusionSLC4A11 mutations are the usual cause of CHED in Iranians. The 10 novel mutations observed contribute significantly to the approximately 85 mutations reported since discovery of the role of the gene in CHED pathogenesis more than 10 years ago. MPDZ mutations may be a cause of CHED and even FECD in a minority of patients. Proposed functions of MPDZ with respect to tight junctions and maintenance of the corneal endothelial barrier are in accordance with a role in corneal endothelial pathobiology.
Foveal microvasculature, refractive errors, optical biometry and their correlations in school-aged children with retinopathy of prematurity after intravitreal antivascular endothelial growth factors or laser photocoagulation
Authors: Chen Yen-Chih , Chen San-Ni 
Published: August 2019

AimsTo compare the differences and to assess the correlations regarding to foveal microvasculature, refractive errors and optical biometry in children with history of type 1 retinopathy of prematurity (ROP) treated with either laser photocoagulation or intravitreal injection of antivascular endothelial growth factors (anti-VEGF).MethodsThis is a retrospective and comparative case series. Measurements of fovea microvasculature included the retinal thickness and subfoveal choroid thickness, the size of fovea avascular zone (FAZ), the fovea, parafovea and perifoveal vessel density (VD). Measurements of refractive errors and optical biometry included spherical equivalent, astigmatism, cornea curvature, anterior chamber depth (ACD), lens thickness and axial length (AXL).ResultsA total 47 eyes in 25 children were studied (22 laser-treated eyes from 12 children and 25 anti-VEGF treated eyes from 13 children). Laser-treated eyes had significantly smaller FAZ (p=0.004), higher fovea VD, lower parafoveal VD (p=0.02 and 0.01 in superficial capillary plexus; p=0.05 and 0.01 in deep capillary plexus), thicker inner retinal thickness (p=0.002). Laser-treated eyes had significantly higher degree of myopia (p=0.01). Regarding to optical biometry, laser-treated eyes had significant steeper cornea curvature, shallower ACD and thicker lens (p=0.01, 0.01 and 0.02, respectively) but no differences in AXL was noted (p=0.58). Significant correlations presented between inner retina thickness and FAZ to anterior segment variables.ConclusionIn school-aged children with history of type 1 ROP, despite similar visual acuity outcome, those who underwent anti-VEGF injection had favourable developmental outcomes compared with laser photocoagulation. Significant correlations exist between fovea microvasculature and optical biometric components.
Modulation of cortical and subcortical brain areas at low and high exercise intensities
Authors: Fontes Eduardo Bodnariuc , Bortolotti Henrique , Grandjean da Costa Kell , Machado de Campos Brunno , Castanho Gabriela K , Hohl Rodrigo , Noakes Timothy , Min Li Li 
Published: August 2019

IntroductionThe brain plays a key role in the perceptual regulation of exercise, yet neuroimaging techniques have only demonstrated superficial brain areas responses during exercise, and little is known about the modulation of the deeper brain areas at different intensities.Objectives/methodsUsing a specially designed functional MRI (fMRI) cycling ergometer, we have determined the sequence in which the cortical and subcortical brain regions are modulated at low and high ratings perceived exertion (RPE) during an incremental exercise protocol.ResultsAdditional to the activation of the classical motor control regions (motor, somatosensory, premotor and supplementary motor cortices and cerebellum), we found the activation of the regions associated with autonomic regulation (ie, insular cortex) (ie, positive blood-oxygen-level-dependent (BOLD) signal) during exercise. Also, we showed reduced activation (negative BOLD signal) of cognitive-related areas (prefrontal cortex), an effect that increased during exercise at a higher perceived intensity (RPE 13–17 on Borg Scale). The motor cortex remained active throughout the exercise protocol whereas the cerebellum was activated only at low intensity (RPE 6–12), not at high intensity (RPE 13–17).ConclusionsThese findings describe the sequence in which different brain areas become activated or deactivated during exercise of increasing intensity, including subcortical areas measured with fMRI analysis.
Quality, safety and performance management in primary health care: from scoping review to research priority setting and implementation plan in the Eastern Mediterranean Region
Authors: Fadlallah Racha , Bou-Karroum Lama , El-Jardali Fadi , Hishi Lama , Al-Akkawi Alaa , Tsolakian Ibrahim George , Hemadi Nour , Hamadeh Randa S. , AbuAlRub Raeda , Hamadeh Randah R. , Arfa Chokri 
Published: August 2019

IntroductionStrong primary health care (PHC) leads to better health outcomes, improves health equity and accelerates progress towards universal health coverage (UHC). The Astana Declaration on PHC emphasised the importance of quality care to achieve UHC. A comprehensive understanding of the quality paradigm of PHC is critical, yet it remains elusive in countries of the Eastern Mediterranean Region (EMR). This study used a multistep approach to generate a policy-relevant research agenda for strengthening quality, safety and performance management in PHC in the EMR.MethodsA multistep approach was adopted, encompassing the following steps: scoping review and generation of evidence and gap maps, validation and ranking exercises, and development of an approach for research implementation. We followed Joanna Briggs Institute guidelines for conducting scoping reviews and a method review of the literature to build the evidence and gap maps. For the validation and ranking exercises, we purposively sampled 55 high-level policy-makers and stakeholders from selected EMR countries. We used explicit multicriteria for ranking the research questions emerging from the gap maps. The approach for research implementation was adapted from the literature and subsequently tailored to address the top ranked research question.ResultsThe evidence and gap maps revealed limited production of research evidence in the area of quality, safety and performance management in PHC by country and by topic. The priority setting exercises generated a ranked list of 34 policy-relevant research questions addressing quality, safety and performance management in PHC in the EMR. The proposed research implementation plan involves collaborative knowledge generation with policy-makers along with knowledge translation and impact assessment.ConclusionStudy findings can help inform and direct future plans to generate, disseminate and use research evidence to enhance quality, safety and performance management in PHC in EMR and beyond. Study methodology can help bridge the gap between research and policy-making.
What factors hinder ethnic minority women in rural China from getting antenatal care? A retrospective data analysis
Authors: Liu Bo , Shi Duorui , Wang Wei , Nan Lei , Yin Bibo , Wei Chongyi , Emu Aga , Zhou Haiqun , Wazha Wuha , Zhu Jianming , Wang Shumei , Ma Wei 
Published: August 2019

BackgroundMother-to-child transmission (MTCT) is one of the main transmission routes of HIV, and the probability of MTCT can be dramatically reduced with comprehensive interventions. In southwest and western regions in China, the level of development in rural areas is relatively backwards and retains some original features, which also increases the difficulty of controlling infectious diseases. The Liangshan Prefecture started the prevention of MTCT programme in 2009. However, the implementation of the programme is not ideal, and the coverage of HIV testing is still low. Many Yi (local major ethnicity) women did not take antenatal care (ANC) and just gave birth to their babies at home for a variety of reasons.MethodsWomen with pregnancy history in the last 5 years were recruited from two townships based on cluster sampling. Face-to-face interviews were conducted to collect data. Descriptive analysis was performed to describe demographic characteristics, history of pregnancy and ANC uptake, knowledge of and attitudes towards ANC. Multivariable analysis was used to identify factors associated with uptake of ANC.ResultsAmong 538 women who completed the questionnaires, 77.9% knew that ANC was necessary during and after pregnancy. However, only 24.2% actually accessed ANC. Almost all women (94.6%) expressed their willingness to receive ANC for pregnancy but barriers towards actual uptake of ANC existed including shyness, lack of independence and unavoidable cost. Multivariate analysis showed that no experience of living outside of Zhaojue for more than 6 months, higher number of births, not knowing the necessity of ANC during pregnancy and not knowing the government’s promotion policies for ANC were associated with lack of ANC uptake.ConclusionAlthough ethnic minority women in rural Liangshan expressed strong intention to use ANC, actual uptake of ANC was low. Knowledge of ANC and HIV prevention for MTCT should be improved among this population, and efforts should be made to help them overcome barriers to accessing ANC.
Study protocol: NITric oxide during cardiopulmonary bypass to improve Recovery in Infants with Congenital heart defects (NITRIC trial): a randomised controlled trial
Authors: Schlapbach Luregn J , Horton Stephen Brian , Long Debbie Amanda , Beca John , Erickson Simon , Festa Marino , d’Udekem Yves , Alphonso Nelson , Winlaw David , Johnson Kerry , Delzoppo Carmel , van Loon Kim , Gannon B , Fooken Jonas , Blumenthal Antje , Young Paul , Jones Mark , Butt Warwick , Schibler Andreas 
Published: August 2019

IntroductionCongenital heart disease (CHD) is a major cause of infant mortality. Many infants with CHD require corrective surgery with most operations requiring cardiopulmonary bypass (CPB). CPB triggers a systemic inflammatory response which is associated with low cardiac output syndrome (LCOS), postoperative morbidity and mortality. Delivery of nitric oxide (NO) into CPB circuits can provide myocardial protection and reduce bypass-induced inflammation, leading to less LCOS and improved recovery. We hypothesised that using NO during CPB increases ventilator-free days (VFD) (the number of days patients spend alive and free from invasive mechanical ventilation up until day 28) compared with standard care. Here, we describe the NITRIC trial protocol.Methods and analysisThe NITRIC trial is a randomised, double-blind, controlled, parallel-group, two-sided superiority trial to be conducted in six paediatric cardiac surgical centres. One thousand three-hundred and twenty infants <2 years of age undergoing cardiac surgery with CPB will be randomly assigned to NO at 20 ppm administered into the CPB oxygenator for the duration of CPB or standard care (no NO) in a 1:1 ratio with stratification by age (<6 and ≥6 weeks), single ventricle physiology (Y/N) and study centre. The primary outcome will be VFD to day 28. Secondary outcomes include a composite of LCOS, need for extracorporeal membrane oxygenation or death within 28 days of surgery; length of stay in intensive care and in hospital; and, healthcare costs. Analyses will be conducted on an intention-to-treat basis. Preplanned secondary analyses will investigate the impact of NO on host inflammatory profiles postsurgery.Ethics and disseminationThe study has ethical approval (HREC/17/QRCH/43, dated 26 April 2017), is registered in the Australian New Zealand Clinical Trials Registry (ACTRN12617000821392) and commenced recruitment in July 2017. The primary manuscript will be submitted for publication in a peer-reviewed journal.Trial registration numberACTRN12617000821392
Effects of ketamine treatment on suicidal ideation: a qualitative study of patients’ accounts following treatment for depression in a UK ketamine clinic
Authors: Lascelles Karen , Marzano Lisa , Brand Fiona , Trueman Hayley , McShane Rupert , Hawton Keith 
Published: August 2019

ObjectiveIt is recognised that ketamine treatment can reduce suicidal ideation (SI) in people with depression, at least in the short term. However, information is lacking on patients’ perspectives on such effects. Studying these can contribute to greater understanding of the mechanisms underlying impact of ketamine treatment on SI. The aim of this study was to investigate patients’ reports of the impact of treatment on their SI, the duration of effects and possible mechanisms.Design and settingThis qualitative study consisted of semi-structured interviews with patients who had received ketamine treatment for depression. Interview data were analysed thematically.ParticipantsFourteen patients (8 females, 6 males, aged 24–64 years) who had received treatment with ketamine for treatment-resistant depression, and had SI at the initiation of treatment. Two participants also had a diagnosis of bipolar type 1 and two of emotionally unstable personality disorder. Eight had a history of self-harm.ResultsSI reduced following ketamine treatment in 12 out of 14 participants for periods of a few hours following a single treatment to up to three years with ongoing treatment. Reduction of SI was variable in terms of extent and duration, and re-emergence of suicidal thoughts often occurred when treatment ceased. Participants’ accounts indicated that reduced SI was associated with improved mood and reduced anxiety, as were clarity of thought, focus and concentration, and ability to function. Participants reported experiencing some or all of these effects in various orders of occurrence.ConclusionGenerally, ketamine treatment was experienced as effective in reducing SI, although duration of effects varied considerably. Patients’ perspectives indicated similarities in the mechanisms of reduction in SI, but some differences in their manifestation, particularly in relation to chronology. Experiences of this cohort suggest that reduced anxiety and improvement in ability to think and function were important mechanisms alongside, or in some cases independently of, improvement in mood. Further studies of patients’ experiences are required to gain enhanced understanding of the variability of effects of ketamine on SI and functionality.
Impact of Compression Therapy on Cellulitis (ICTOC) in adults with chronic oedema: a randomised controlled trial protocol
Authors: Webb Elizabeth , Neeman Teresa , Gaida Jamie , Bowden Francis J , Mumford Virginia , Bissett Bernie 
Published: August 2019

IntroductionCellulitis represents a significant burden to patients’ quality of life (QOL) and cost to the healthcare system, especially due to its recurrent nature. Chronic oedema is a strong risk factor for both an initial episode of cellulitis and cellulitis recurrence. Expert consensus advises compression therapy to prevent cellulitis recurrence in individuals with chronic oedema, however, there is little supporting evidence. This research aims to determine if the management of chronic oedema using compression therapy effectively delays the recurrence of lower limb cellulitis.Methods and analysisA randomised controlled trial with cross-over will be used to assess the impact of compression therapy on clinical outcomes (time to next episode of cellulitis, rate of cellulitis-related hospital presentations, QOL and leg volume). Using concealed allocation, 162 participants will be randomised into the intervention (compression) or control (no compression) group. Randomisation will be stratified by prophylactic antibiotic use. Participants will be followed up at 6 monthly intervals for up to 3 years or until 45 episodes of cellulitis occur across the cohort. Following an episode of recurrent cellulitis, control group participants will cross-over to the intervention group. Survival analysis will be undertaken to assess the primary outcome measure of time to cellulitis recurrence. The hypotheses are that compression therapy to control lower limb chronic oedema will delay recurrent lower limb cellulitis, reduce the rate of associated hospitalisations, minimise affected limb volume and improve the QOL of this population.Ethics and disseminationEthics approval has been obtained from the ethics committees of all relevant institutions. Results will be disseminated through relevant peer-reviewed journal articles and conference presentations.Trial registration numberACTRN12617000412336; Pre-results. The ICTOC trial is currently in progress. Participant recruitment started in May 2017 and is expected to continue until December 2019.
Risk factors for contrast-induced acute kidney injury (CI-AKI): protocol for systematic review and meta-analysis
Authors: Liu Yong , Liang Xingcheng , Xin Shaojun , Liu Jin , Sun Guoli , Chen Shiqun , Cen Xiaolin , Dai Xiaohua , He Yibo , Song Feier , Liang Yan , Hu Yuying , Zhou Yingling , Chen Zhujun , Tan Ning , Chen Jiyan 
Published: August 2019

IntroductionIdentifying the patients who are at risk for contrast-induced acute kidney injury (CI-AKI), which is defined as an increase in serum creatinine after exposure to contrast media, is a critical step in targeted prevention strategies. The absolute and relative importance of individual risk factors have not been systematically evaluated, let alone the new, controversial and modifiable risk factors of CI-AKI.Methods and analysisOn 1 July 2019, a search was performed on MEDLINE, Embase and the Cochrane Database of Systematic Reviews. We will perform a systematic review and meta-analysis to assess the important risk factors for developing CI-AKI, including those new, modifiable factors, which are considered controversial. The secondary endpoint will be all-cause mortality. Two authors will then independently screen studies that meet the criteria for inclusion, consulting with a third author to resolve any dispute. The quality of the included studies will be assessed according to the Newcastle-Ottawa scale.Ethics and disseminationEthics approval in this systematic review and meta-analysis protocol is not needed. We will disseminate the findings of this systematic review and meta-analysis via publications in peer-reviewed journals.PROSPERO registration numberCRD42019121534
Cost-effectiveness of a high-intensity versus a low-intensity smoking cessation intervention in a dental setting: long-term follow-up
Authors: Feldman Inna , Helgason Asgeir Runar , Johansson Pia , Tegelberg Åke , Nohlert Eva 
Published: August 2019

ObjectivesThe aim of this study was to conduct a cost-effectiveness analysis (CEA) of a high-intensity and a low-intensity smoking cessation treatment programme (HIT and LIT) using long-term follow-up effectiveness data and to validate the cost-effectiveness results based on short-term follow-up.Design and outcome measuresIntervention effectiveness was estimated in a randomised controlled trial as numbers of abstinent participants after 1 and 5–8 years of follow-up. The economic evaluation was performed from a societal perspective using a Markov model by estimating future disease-related costs (in Euro (€) 2018) and health effects (in quality-adjusted life-years (QALYs)). Programmes were explicitly compared in an incremental analysis, and the results were presented as an incremental cost-effectiveness ratio.SettingThe study was conducted in dental clinics in Sweden.Participants294 smokers aged 19–71 years were included in the study.InterventionsBehaviour therapy, coaching and pharmacological advice (HIT) was compared with one counselling session introducing a conventional self-help programme (LIT).ResultsThe more costly HIT led to higher number of 6-month continuous abstinent participants after 1 year and higher number of sustained abstinent participants after 5–8 years, which translates into larger societal costs avoided and health gains than LIT. The incremental cost/QALY of HIT compared with LIT amounted to €918 and €3786 using short-term and long-term effectiveness, respectively, which is considered very cost-effective in Sweden.ConclusionCEA favours the more costly HIT if decision makers are willing to spend at least €4000/QALY for tobacco cessation treatment.
Reliability of a wearable wireless patch for continuous remote monitoring of vital signs in patients recovering from major surgery: a clinical validation study from the TRaCINg trial
Authors: Downey Candice , Ng Shu , Jayne David , Wong David 
Published: August 2019

ObjectiveTo validate whether a wearable remote vital signs monitor could accurately measure heart rate (HR), respiratory rate (RR) and temperature in a postsurgical patient population at high risk of complications.DesignManually recorded vital signs data were paired with vital signs data derived from the remote monitor set in patients participating in the Trial of Remote versus Continuous INtermittent monitoring (TRaCINg) study: a trial of continuous remote vital signs monitoring.SettingSt James’s University Hospital, UK.Participants51 patients who had undergone major elective general surgery.InterventionsThe intervention was the SensiumVitals monitoring system. This is a wireless patch worn on the patient’s chest that measures HR, RR and temperature continuously. The reference standard was nurse-measured manually recorded vital signs.Primary and secondary outcome measuresThe primary outcomes were the 95% limits of agreement between manually recorded and wearable patch vital sign recordings of HR, RR and temperature. The secondary outcomes were the percentage completeness of vital sign patch data for each vital sign.Results1135 nurse observations were available for analysis. There was no clinically meaningful bias in HR (1.85 bpm), but precision was poor (95% limits of agreement −23.92 to 20.22 bpm). Agreement was poor for RR (bias 2.93 breaths per minute, 95% limits of agreement −8.19 to 14.05 breaths per minute) and temperature (bias 0.82°C, 95% limits of agreement −1.13°C to 2.78°C). Vital sign patch data completeness was 72.8% for temperature, 59.2% for HR and 34.1% for RR. Distributions of RR in manually recorded measurements were clinically implausible.ConclusionsThe continuous monitoring system did not reliably provide HR consistent with nurse measurements. The accuracy of RR and temperature was outside of acceptable limits. Limitations of the system could potentially be overcome through better signal processing. While acknowledging the time pressures placed on nursing staff, inaccuracies in the manually recorded data present an opportunity to increase awareness about the importance of manual observations, particularly with regard to methods of manual HR and RR measurements.