bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
Authors: Xiao Yi-shuang , He Wen-Ji , Jiang Hong-chao , Tan Li , Ma Jing , Zhang Zhen 
Published: June 2023

Abstract
Background
Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision. However, a genetic cause cannot be determined in approximately 60% of cases.

Case presentation
Two non-consanguineous Yi minority ethnic group families who have a 6.4-year-old boy and a 0.5-year-old boy, respectively, were recruited for genetic diagnosis. Here, we used whole-exome sequencing to detect mutations in the genes of the probands of the retinitis pigmentosa families, and Sanger sequencing to confirm the causal mutations identified by whole exome sequencing. In addition, we report two cases with retinitis pigmentosa caused by RDH12 (c.524C > T) and PRPF4 (c.1273G > A) pathogenic mutations.

Conclusions
These results might extend the mutation spectrum of known retinitis pigmentosa genes and give these two Yi minority ethnic group families from Yunnan more precise genetic counseling and more specific prognoses.
Marked hemopneumopericardium in a patient with rectal cancer with distant metastasis: a case report
Authors: Almulhim Sager , Almakhaita Ghada , AL-Osail Emad M. 
Published: June 2023

Abstract
Introduction
Hemopneumopericardium defines a condition of combined pathology of weakened, dense blood content (hemopericardium) and air (pneumopericardium) in the pericardial cavity with an air fluid level. It is a rare disease, with only one such case reported in the literature. In this case report, we assessed a patient rectal cancer in addition to hemopneumopericardium, dyspnea, and chest pain.

Clinical case report
A 47-year-old Arab woman previously diagnosed with rectal cancer metastasized to bones, lymph nodes, and lungs post-Hartmann procedure reported to the emergency department complaining of worsening dyspnea for 2 weeks, more significantly in the supine position. A productive cough with yellowish sputum characterized this; however, there was no pertinent family or psychological history. Examination of the respiratory system revealed dullness on the left side associated with decreased breath sound. The chest radiograph also revealed marked hydro-pneumopericardium. Spiral computed tomography angiography of pulmonary arteries demonstrated pericardial effusion with the air fluid level at pericardial space, implying hydro-pneumopericardium.

Clinical conclusion
A successful pericardiocentesis was performed, in which 180 cc of blood-filled pericardial fluid was drained, suggesting the presence of hemopneumopericardium. Hemopneumopericardium has multiple etiologies, yet critical intervention is restricted in patients with cardiac tamponade. Hence, pericardiocentesis could be a definitive treatment.
Examining outcomes for service users accessing the Breaking Free Online computer-assisted therapy program for substance use disorders via a ‘telehealth’ approach: protocol for a two arm, parallel group randomized controlled trial
Authors: Elison-Davies Sarah , Pittard Lauren , Myton Tracey , Jones Andrew , Ward Jonathan , Davies Glyn 
Published: June 2023

Abstract
Background
Breaking Free Online (BFO), a computer-assisted therapy (CAT) program for substance use disorders (SUD), has been available across UK treatment services for the past decade and has demonstrated efficacy. The Covid-19 pandemic has contributed to digital and ‘telehealth’ approaches to healthcare delivery becoming more common and accepted, and has in parallel, increased numbers of referrals to SUD services because of the impact pandemic-related stress has had on substance using habits in the general population. Digital and telehealth approaches, such as BFO, have the potential to support the treatment system to meet this increased demand for SUD services.

Methods
Parallel-group randomized controlled trial of eight-week BFO as an adjunct to standard treatment for SUD, in comparison to standard treatment only, at a National Health Service (NHS) Mental Health Trust in North-West England. Participants will be service users aged 18 years and over with demonstrable SUD for at least 12-months. Interventional and control groups will be compared on multiple measures from baseline to post-treatment assessment at eight-weeks, and then three and six-months follow-up. Primary outcome will be self-reported substance use, with secondary outcomes being standardized assessments of substance dependence, mental health, biopsychosocial functioning and quality of life.

Discussion
This study will examine whether BFO and telehealth support, when delivered as an adjunct to standard SUD interventions, improves outcomes for services users receiving NHS SUD treatment. Findings from the study will be used to inform both developments to the BFO program and guidance around augmenting the delivery of CAT programs via telehealth.
Trial registration registered with ISRCTN on 25th May 2021—registration number: 13694016. Protocol version: 3.0 05th April 2022. Trial status: This trial is currently open to recruitment—estimated to be completed in May 2023.
Effects of dietary coenzyme Q10 supplementation during gestation on the embryonic survival and reproductive performance of high-parity sows
Authors: Cao Shanchuan , Yan Honglin , Tang Wenjie , Zhang Hongfu , Liu Jingbo 
Published: June 2023

Abstract
Background
Fertility declines in high-parity sows. This study investigated whether parity-dependent declines in embryonic survival and reproductive performance could be restored by dietary coenzyme Q10 (CoQ10) supplementation.

Methods
Two experiments were performed. In Exp. 1, 30 young sows that had completed their 2nd parity and 30 high-parity sows that had completed their 10th parity, were fed either a control diet (CON) or a CON diet supplemented with 1 g/kg CoQ10 (+ CoQ10) from mating until slaughter at day 28 of gestation. In Exp. 2, a total of 314 post-weaning sows with two to nine parities were fed the CON or + CoQ10 diets from mating throughout gestation.

Results
In Exp. 1, both young and high-parity sows had a similar number of corpora lutea, but high-parity sows had lower plasma CoQ10 concentrations, down-regulated genes involved with de novo CoQ10 synthesis in the endometrium tissues, and greater levels of oxidative stress markers in plasma and endometrium tissues. High-parity sows had fewer total embryos and alive embryos, lower embryonic survival, and greater embryo mortality than young sows. Dietary CoQ10 supplementation increased the number of live embryos and the embryonic survival rate to levels similar to those of young sows, as well as lowering the levels of oxidative stress markers. In Exp. 2, sows showed a parity-dependent decline in plasma CoQ10 levels, and sows with more than four parities showed a progressive decline in the number of total births, live births, and piglets born effective. Dietary supplementation with CoQ10 increased the number of total births, live births, and born effective, and decreased the intra-litter covariation coefficients and the percentage of sows requiring farrowing assistance during parturition.

Conclusions
Dietary CoQ10 supplementation can improve the embryonic survival and reproductive performance of gestating sows with high parity, probably by improving the development of uterine function.
Determinants of body image disturbance and disordered eating behaviors among self-identified LGBTQ individuals
Authors: Kalash Nour , Harb Hana , Zeeni Nadine , El Khoury Myriam , Mattar Lama 
Published: June 2023

AbstractIt has been previously established that sexual minorities are more likely to suffer from mental health illnesses due to experiencing unique stressors such as fear, anxiety, stigma, harassment, and prejudice. Results revealed two noteworthy mental health disorders reported by lesbian, gay, bisexual, transgender, and queer (LGBTQ) individuals, disordered eating behaviors and disturbed body image. Yet, a-priori studies revealed inconsistent results with regards to body image concerns and eating disorder symptoms and attitudes among sexual minorities. Therefore, this cross-sectional study aimed at investigating the occurrence of disordered eating behaviors (DEB) and body image disturbance (BID) among sexual minorities in Lebanon. Additionally, the correlation between several determinants of DEB and BID including fear of negative evaluation, generalized anxiety, social support, and harassment levels have been examined. Generally, the present study revealed that LGBTQ population scored higher than cisgender and heterosexual individuals for the mean and global scores of the EDE-Q6.0 and BAS-2. Only generalized anxiety and fear of negative evaluation scales were significantly associated with DEB and BID among different sexual orientation and gender identity individuals. Therefore, it is very important that health professionals working with such vulnerable populations meticulously assess for disordered eating behaviors and body image disturbance for better communication and management.
The association between screen use and central obesity among children and adolescents: a systematic review and meta-analysis
Authors: Ghasemirad Mohammad , Ketabi Leyla , Fayyazishishavan Ehsan , Hojati Ali , Maleki Zahra Hosseinzadeh , Gerami Mohammad Hadi , Moradzadeh Mahdi , Fernandez Jaime Humberto Ortiz , Akhavan-Sigari Reza 
Published: June 2023

AbstractCurrently, there is no summative study evaluating the association between central obesity and screen time. This systematic review and meta-analysis aimed to summarize the results of studies evaluating the association between screen time and central obesity among children and adolescents. To this end, we performed a systematic search in three electronic databases, including Scopus, PubMed, and Embase to retrieve the related studies up to March 2021. Nine studies were eligible to be included in the meta-analysis. There was no association between odds of central obesity and screen time [odds ratio (OR) 1.136; 95% CI 0.965–1.337;P = 0.125]; however, waist circumference (WC) was 1.23 cm higher in those with highest screen time versus those in the lowest screen time category [weighted mean difference (WMD) = 1.23; 95% 95% CI 0.342–2.112;P = 0.007; Fig. 3]. Moreover, the possible sources of heterogeneity in the included studies were continent and sample size. No evidence of publication bias was reported. For the first time, the current systematic review and meta-analysis revealed that those with the highest screen time had higher WC compared with those with the lowest screen time. Although, there was no association between odds of central obesity and screen time. Due to the observational design of the included studies, it is impossible to infer the cause-effect relationship. Therefore, further interventional and longitudinal studies are warranted to better elucidate the causality of these associations.
Population-Based Pharmacodynamic Modeling of Omalizumab in Pediatric Patients with Moderate to Severe Persistent Inadequately Controlled Allergic Asthma
Authors: Zhu Rui , Wang Xiaoning , Anderson Eric , Deng Michelle , Pivirotto Scott , Jin Jin , Kassir Nastya , Owen Ryan 
Published: June 2023

AbstractOmalizumab is the first approved anti-immunoglobulin E (IgE) agent for the treatment of moderate to severe persistent inadequately controlled allergic asthma in adults and adolescents (≥ 12 years old). In 2016, it was approved in pediatric patients (6–11 years old). The objective of this study was to quantitatively characterize the relationship between serum free IgE and pulmonary function (as measured by forced expiratory volume in 1 s [FEV1]) in pediatrics using a population-based pharmacodynamic model. Data collected during the steroid-stable period (first 24 weeks) of an omalizumab trial with pediatric asthma patients (Study IA05) were used to build the pediatric IgE–FEV1 model. The previously developed population IgE–FEV1 model in adults/adolescents was adapted to characterize the FEV1 and IgE relationship in pediatrics with different magnitude and onset of response. The pediatric IgE–FEV1 model adequately characterized the IgE–FEV1 relationship in pediatrics, particularly at the extremes of the observed body weights (i.e., ≤ 30 kg) and IgE values at screening (i.e., > 700 IU/mL). The estimated sigmoidal free IgE–FEV1 curves were similar in shape and maximum effect, but the estimated free IgE concentration leading to 50% maximum effect (IC50) in pediatric patients (39.4, 95% confidence interval [CI] 24.3–63.9 ng/mL) was higher than estimated in adults (19.8, 95% CI 15.1–24.5 ng/mL). The model further confirmed that the current omalizumab dosing rationale based on the mean target free IgE level of 25 ng/ml was appropriate. The pediatric model can be used to predict population FEV1 response for omalizumab when combined with an omalizumab pharmacokinetic–IgE model.
Graphical abstract
Female paramedics' attitudes towards career progression in the ambulance service
Authors: Ulrich Alexandra , Williams Julia , Clarke Vince 
Published: June 2023

Background: Women's historic under-representation in paramedic roles in the London Ambulance Service (LAS) has recently improved, and women and men are equally represented in paramedic roles. However, the gender balance of advanced paramedic practitioners in critical care in the LAS remains unequal, with women constituting only 15.1% of this group. Aims: This study aimed to gather the views of female paramedics to gain some insight into potential reasons for this under-representation. Methods: A feminist pragmatic approach was taken. Qualitative, open-ended surveys were distributed via internal social media and bulletins. These surveys underwent primary thematic analysis to generate lines of enquiry that informed semi-structured interview questions. The questions were then posed to a maximum variation, purposeful sample of six women from the LAS. Interviews were audio-recorded, transcribed and thematically analysed. Findings: Ninety-four women responded to the survey; six were sampled for interviews. The women varied by experience, clinical grade, age, work location and societal factors, including whether they were mothers and the number of children they had. A main overarching theme was ‘social construction of women and career progression within the ambulance service’. This was informed by three interrelated subthemes of ‘caregiving lifestyle’, ‘perceptions of self’ and ‘gender stereotypes’. Conclusion: Women in the ambulance service have unique challenges that mirror those in wider society. Social constructs may impose unconscious bias and pressures that prevent women from advancing. Organisational structures and the cultural norms of the LAS may require adapting to improve the gender balance of the workforce and therefore the service it delivers.
Nurse-led telerehabilitation intervention to improve stroke efficacy: Protocol for a pilot randomized feasibility trial
Authors: Osei Stephanopoulos Kofi Junior , Adomako – Bempah Emmanuella , Yeboah Adelaide Appiah , Owiredu Lawrence Akuamoah , Ohene Lillian Akorfa 
Published: June 2023

Background
The prevalence of stroke continues to rise in low-middle income countries. The continual rise in stroke cases and increasing prevalence on post-acute needs represent a crucial call for increased accessibility and utilization of rehabilitation services.

Aim
The primary objective of the study is to test the feasibility of a nurse-led telerehabilitation intervention in improving self-efficacy among stroke survivors. The findings of the trial are intended for use in a future larger study.

Methods
Participants would be recruited at the University of Ghana Hospital and randomized into an intervention group and a control group. Participants aged ≥ 18 years, diagnosed of stroke at most 12months prior the recruitment and requiring moderate level of assistance would be considered for eligibility. Participants in the intervention group will receive individualized and comprehensive nurse-led rehabilitation therapies in physical, emotional, cognitive and nursing education domains for 6 months, in addition to treatment as usual (TAU). The control group will only receive treatment as usual. Follow-up evaluations will occur immediately, 30 days and 90 days after the intervention.

Discussion
Providing stroke rehabilitation services in low-resource settings presents a significant challenge due to limited infrastructure and a lack of trained healthcare professionals. The current study has the potential of contributing to the growing body of evidence on the impact of telerehabilitation services in mitigating these challenges in low-resource settings.

Trial registration
PACTR202210685104862, Pan African Clinical Trial Registry.
Integral assays of hemostasis in hospitalized patients with COVID-19 on admission and during heparin thromboprophylaxis
Authors: Bulanov Andrey Y. , Bulanova Ekaterina L. , Simarova Irina B. , Bovt Elizaveta A. , Eliseeva Olesya O. , Shakhidzhanov Soslan S. , Panteleev Mikhail A. , Roumiantsev Aleksandr G. , Ataullakhanov Fazoil I. , Karamzin Sergey S. 
Published: June 2023

Background
Blood coagulation abnormalities play a major role in COVID-19 pathophysiology. However, the specific details of hypercoagulation and anticoagulation treatment require investigation. The aim of this study was to investigate the status of the coagulation system by means of integral and local clotting assays in COVID-19 patients on admission to the hospital and in hospitalized COVID-19 patients receiving heparin thromboprophylaxis.

Methods
Thrombodynamics (TD), thromboelastography (TEG), and standard clotting assays were performed in 153 COVID-19 patients observed in a hospital setting. All patients receiving treatment, except extracorporeal membrane oxygenation (ECMO) patients (n = 108), were administered therapeutic doses of low molecular weight heparin (LMWH) depending on body weight. The ECMO patients (n = 15) were administered unfractionated heparin (UFH).

Results
On admission, the patients (n = 30) had extreme hypercoagulation by all integral assays: TD showed hypercoagulation in ~75% of patients, while TEG showed hypercoagulation in ~50% of patients. The patients receiving treatment showed a significant heparin response based on TD; 77% of measurements were in the hypocoagulation range, 15% were normal, and 8% remained in hypercoagulation. TEG showed less of a response to heparin: 24% of measurements were in the hypocoagulation range, 59% were normal and 17% remained in hypercoagulation. While hypocoagulation is likely due to heparin treatment, remaining in significant hypercoagulation may indicate insufficient anticoagulation for some patients, which is in agreement with our clinical findings. There were 3 study patients with registered thrombosis episodes, and all were outside the target range for TD parameters typical for effective thromboprophylaxis (1 patient was in weak hypocoagulation, atypical for the LMWH dose used, and 2 patients remained in the hypercoagulation range despite therapeutic LMWH doses).

Conclusion
Patients with COVID-19 have severe hypercoagulation, which persists in some patients receiving anticoagulation treatment, while significant hypocoagulation is observed in others. The data suggest critical issues of hemostasis balance in these patients and indicate the potential importance of integral assays in its control.
Novel limbal dermoid surgery for visual acuity and cosmesis improvement: A 7-year retrospective review
Authors: Jeong Jinho , Rand Gabriel M. , Lee Ju-Yeun , Kwon Ji-Won 
Published: June 2023

Background
To report a long-term outcome of the novel combined surgical method of complete excision, corneal tattooing, and a sutureless limbal conjunctival autograft for limbal dermoid.

Methods
All patients who were referred to our clinic for limbal dermoid, and underwent a combined surgery of complete excision, corneal tattooing, and a sutureless limbal conjunctival autograft were retrospectively reviewed. The surgery was performed by one surgeon, and all clinical information was obtained during a seven-year follow up period. In all patients, surgical outcomes of cosmesis, best corrected visual acuity (BCVA), spherical equivalent (SE), and corneal/ocular astigmatism were obtained and compared preoperatively and postoperatively.

Results
During seven years, 24 patients (24 eyes) with limbal dermoid were finally enrolled. The mean age was 10.1±8.9 years old. The surgery resulted in an improved appearing ocular surface in all cases without any complications. There was no statistical difference in BCVA, corneal and ocular astigmatism between preoperatively and postoperatively (p = 0.231, 0.156 and 0.475, respectively). The mean SE was 0.12±3.19D preoperatively, and -0.21±3.02 D postoperatively with statistical significance (p = 0.037). Mean follow up period was 54.50 ± 15.62 months.

Conclusions
Based on the results of this study, our innovative surgical method which includes complete excision with corneal tattooing and limbal conjunctival autograft can be a simple and safe procedure that achieves long standing cosmesis with limbal dermoids.
Cost of childhood cancer treatment in Ethiopia
Authors: Mirutse Mizan Kiros , Palm Michael Tekle , Tolla Mieraf Taddesse , Memirie Solomon Tessema , Kefyalew Eden Shiferaw , Hailu Daniel , Norheim Ole F. 
Published: June 2023

Background
Despite the recent interest in expanding pediatric oncology units in Ethiopia, reflected in the National Childhood and Adolescent Cancer Control Plan (NCACCP), little is known about the cost of running a pediatric oncology unit and treating childhood cancers.

Methods
We collected historical cost data and quantity of services provided for the pediatric oncology unit and all other departments in Tikur Anbessa Specialized Hospital (TASH) from 8 July 2018 to 7 July 2019, using a provider perspective and mixed (top-down and bottom-up) costing approaches. Direct costs (human resources, drugs, supplies, medical equipment) of the pediatric oncology unit, costs at other relevant clinical departments, and overhead cost share are summed up to estimate the total annual cost of running the unit. Further, unit costs were estimated at specific childhood cancer levels.

Results
The estimated annual total cost of running a pediatric oncology unit was USD 776,060 (equivalent to USD 577 per treated child). The cost of running a pediatric oncology unit per treated child ranged from USD 469 to USD 1,085, on the scenario-based sensitivity analysis. Drugs and supplies, and human resources accounted for 33% and 27% of the total cost, respectively. Outpatient department and inpatient department shared 37% and 63% of the cost, respectively. For the pediatric oncology unit, the cost per OPD visit, cost per bed day, and cost per episode of hospital admission were USD 36.9, 39.9, and 373.3, respectively. The annual cost per treated child ranged from USD 322 to USD 1,313 for the specific childhood cancers.

Conclusion
Running a pediatric oncology unit in Ethiopia is likely to be affordable. Further analysis of cost effectiveness, equity, and financial risk protection impacts of investing in childhood cancer programs could better inform the prioritization of childhood cancer control interventions in the Ethiopia Essential Health Service Package.