bluuebunny/crossref_metadata_2025_split huggingface dataset:
Work participation in adults with rare genetic diseases - a scoping review
Authors: Velvin Gry , Dammann Brede , Haagensen Trond , Johansen Heidi , Strømme Hilde , Geirdal Amy Østertun , Bathen Trine 
Published: May 2023

Abstract
Background
Work participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite that work participation is a social determinant of health and seems necessary for understanding health behaviours and quality of life, it is an under-researched and under-recognized aspect in many rare diseases. The objectives of this study was to map and describe existing research on work participation, identify research gaps, and point to research agendas in a selection of rare genetic diseases.

Methods
A scoping review was performed by searching relevant literature in bibliographic databases and other sources. Studies addressing work participation in people with rare genetic diseases published in peer reviewed journals were assessed using EndNote and Rayyan. Data were mapped and extracted based on the research questions concerning the characteristics of the research.

Results
Of 19,867 search results, 571 articles were read in full text, and 141 satisfied the eligibility criteria covering 33 different rare genetic diseases; 7 were reviews and 134 primary research articles. In 21% of the articles the primary aim was to investigate work participation. The extent of studies varied between the different diseases. Two diseases had more than 20 articles, but most had only one or two articles. Cross-sectional quantitative studies were predominant, with few utilizing prospective or qualitative design. Nearly all articles (96%) reported information about work participation rate, and 45% also included information about factors associated with work participation and work disability. Due to differences in methodologies, cultures and respondents, comparison between and within diseases are difficult. Nevertheless, studies indicated that many people with different rare genetic diseases experience challenges related to work, closely associated to the symptoms of the disease.

Conclusion
While studies indicate high prevalence of work disability in many patients with rare diseases, the research is scarce and fragmented. More research is warranted. Information about the unique challenges of living with different rare diseases is crucial for health and welfare systems to better facilitate work participation. In addition, the changing nature of work in the digital age, may also open up new possibilities for people with rare genetic diseases and should be explored.
Using the precaution adoption process model and the health belief model to understand radon testing and mitigation: a pre-post quasi-experimental study
Authors: Maier Allison , Hayes Erin , Munday Lisa 
Published: May 2023

Abstract
Background
Despite being the leading cause of lung cancer for non-smokers, few Canadians take action to test for and mitigate radon. This study’s aim was twofold: (1) to investigate predictors of radon testing and mitigation using the Precaution Adoption Process Model (PAPM) and Health Belief Model (HBM); and (2) to assess the impact on beliefs of receiving radon results above health guidelines.

Methods
A convenience sample within Southeastern Ontario households was recruited to test their homes for radon (N = 1,566) for a pre-post quasi-experimental study. Prior to testing, participants were surveyed on risk factors and HBM constructs. All participants whose homes tested above the World Health Organization’s radon guideline (N = 527) were surveyed after receiving their results and followed for up to 2 years after. Participants were classified into PAPM stages and regression analyses were conducted to determine predictors between different stages (from deciding to test onwards). Paired bivariate analyses compared responses before and after receiving results.

Results
Perceived benefits from mitigating was associated with progressing through all stages in the study’s scope. Perceived susceptibility to and severity of illness and perceptions of cost and time to mitigate were associated with progression through some PAPM stages. Homes with smokers or individuals under 18 were associated with not progressing through some stages. Home radon level was associated with mitigation. Attitudes towards many HBM constructs significantly decreased after receiving a high radon result.

Conclusions
Public health interventions should target specific radon beliefs and stages to ensure households test and mitigate for radon.
Laparoscopic parenchyma-sparing resections for solid pseudopapillary tumors located in the head of pancreas
Authors: Zou Zhengdong , Feng Lu , Peng Bing , Liu Jianhua , Cai Yunqiang 
Published: May 2023

Abstract
Background
Solid pseudopapillary tumor (SPT) of the pancreas is a rare low-grade malignant tumor. Here, we aimed to determine the safety and feasibility of laparoscopic parenchyma-sparing pancreatectomy for SPT located in the pancreatic head.

Methods
From July 2014 to February 2022, 62 patients with SPT located in the pancreatic head were operated laparoscopically in two institutions. These patients were divided into two groups according to the operative strategy: laparoscopic parenchyma-sparing pancreatectomy (27 patients, group 1) and laparoscopic pancreaticoduodenectomy (35 patients, group 2). The clinical data were retrospectively collected and analyzed in terms of demographic characteristics, perioperative variables, and long-term follow-up outcomes.

Results
The demographic characteristics of the patients in the two groups were comparable. Compared to the patients in group 2, those in group 1 required less operative time (263.4 ± 37.2 min vs. 332.7 ± 55.6 min, p < 0.001) and experienced less blood loss (105.1 ± 36.5mL vs. 188.3 ± 150.7 mL, p < 0.001). None of the patients in group 1 had tumor recurrence or metastasis. However, 1 (2.5%) patient in group 2 showed liver metastasis.

Conclusion
Laparoscopic parenchyma-sparing pancreatectomy is a safe and feasible approach for SPT located in the pancreatic head, with favorable long-term functional and oncological results.
Concerns about stone free rate and procedure events of percutaneous nephrolithotripsy (PCNL) for 2–4 cm kidney stones by standard-PCNL vs mini-PCNL- comparative randomised study
Authors: Wishahi Mohamed , El Feel Ahmed , Elkhouly Amr , Fahmy Abdullah , Roshdy Mamdouh , Elbaz Ahmed G , Kamel Ahmed I , Badawy Mohamed , Elesaily Khaled , Eldahshan Samir , Ali Ayman , Meheina Ahmed , Abdelwahed Mohamed 
Published: May 2023

Abstract
Background
To compare the efficacy and safety of standard percutaneous nephrolithotomy (PCNL) with mini- PCNL for kidney stones 2–4 cm.

Methods
Eighty patients were enrolled in a comparative study, they were randomly divided into mini-PCNL group (n = 40) and standard-PCNL (n = 40). Demographic characteristics, perioperative events, complications, stone free rate (SFR) were reported.

Results
Both groups showed no significant difference in clinical data about age, stone location, back pressure changes, and body mass index. The mean operative time was (95 ± 17.9 min) in mini-PCNL, and (72.1 ± 14.9 min). Stone free rate were 80% and 85% in mini-PCNL and standard-PCNL respectively. Intra-operative complications, post-operative need for analgesia, hospital stay were significantly higher in standard-PCNL compared to mini-PCNL (85% vs. 80%). The study followed CONSORT 2010 guidelines for reporting parallel group randomization.

Conclusion
Mini-PCNL is an effective and safe treatment of kidney stones 2–4 cm, it has the advantage over standard-PCNL being has less intra-operative events, less post-operative analgesia, shorter hospital stay, while operative time and stone free rate are comparable when considering multiplicity, hardness, and site of stones.
Yields and product comparison between Escherichia coli BL21 and W3110 in industrially relevant conditions: anti-c-Met scFv as a case study
Authors: Arauzo-Aguilera Klaudia , Buscajoni Luisa , Koch Karin , Thompson Gary , Robinson Colin , Berkemeyer Matthias 
Published: May 2023

Abstract
Introduction
In the biopharmaceutical industry, Escherichia coli is one of the preferred expression hosts for large-scale production of therapeutic proteins. Although increasing the product yield is important, product quality is a major factor in this industry because greatest productivity does not always correspond with the highest quality of the produced protein. While some post-translational modifications, such as disulphide bonds, are required to achieve the biologically active conformation, others may have a negative impact on the product’s activity, effectiveness, and/or safety. Therefore, they are classified as product associated impurities, and they represent a crucial quality parameter for regulatory authorities.

Results
In this study, fermentation conditions of two widely employed industrial E. coli strains, BL21 and W3110 are compared for recombinant protein production of a single-chain variable fragment (scFv) in an industrial setting. We found that the BL21 strain produces more soluble scFv than the W3110 strain, even though W3110 produces more recombinant protein in total. A quality assessment on the scFv recovered from the supernatant was then performed. Unexpectedly, even when our scFv is correctly disulphide bonded and cleaved from its signal peptide in both strains, the protein shows charge heterogeneity with up to seven distinguishable variants on cation exchange chromatography. Biophysical characterization confirmed the presence of altered conformations of the two main charged variants.

Conclusions
The findings indicated that BL21 is more productive for this specific scFv than W3110. When assessing product quality, a distinctive profile of the protein was found which was independent of the E. coli strain. This suggests that alterations are present in the recovered product although the exact nature of them could not be determined. This similarity between the two strains’ generated products also serves as a sign of their interchangeability. This study encourages the development of innovative, fast, and inexpensive techniques for the detection of heterogeneity while also provoking a debate about whether intact mass spectrometry-based analysis of the protein of interest is sufficient to detect heterogeneity in a product.
The efficacy and effectiveness of COVID-19 vaccines around the world: a mini-review and meta-analysis
Authors: Soheili Marzieh , Khateri Sorour , Moradpour Farhad , Mohammadzedeh Pardis , Zareie Mostafa , Mortazavi Seyede Maryam Mahdavi , Manifar Sima , Kohan Hamed Gilzad , Moradi Yousef 
Published: May 2023

Abstract
Objectives
This meta-analysis evaluated the Efficacy and Effectiveness of several COVID-19 vaccines, including AstraZeneca, Pfizer, Moderna, Bharat, and Johnson & Johnson, to better estimate their immunogenicity, benefits, or side effects.

Methods
Studies reporting the Efficacy and Effectiveness of COVID-19 vaccines from November 2020 to April 2022 were included. The pooled Effectiveness/Efficacy with a 95% confidence interval (95% CI) with Metaprop order was calculated. The results were presented in forest plots. Predefined subgroup analyses and sensitivity analyses were also performed.

Results
A total of twenty articles were included in this meta-analysis. After the first dose of the vaccine, the total effectiveness of all COVID-19 vaccines in our study was 71% (95% CI 0.65, 0.78). The total effectiveness of vaccines after the second dose was 91% (95% CI 0.88, 0.94)). The total efficacy of vaccines after the first and second doses was 81% (95% CI 0.70, 0.91) and 71% (95% CI 0.62, 0.79), respectively. The effectiveness of the Moderna vaccine after the first and second dose was the highest among other studied vaccines ((74% (95% CI, 0.65, 0.83) and 93% (95% CI, 0.89, 0.97), respectively). The highest first dose overall effectiveness of the studied vaccines was against the Gamma variant (74% (95% CI, 0.73, 0.75)), and the highest effectiveness after the second dose was observed against the Beta variant (96% (95% CI, 0.96, 0.96)). The Efficacy for AstraZeneca and Pfizer vaccines after the first dose was 78% (95% CI, 0.62, 0.95) and 84% (95% CI, 0.77, 0.92), respectively. The second dose Efficacy for AstraZeneca, Pfizer, and Bharat was 67% (95% CI, 0.54, 0.80), 93% (95% CI, 0.85, 1.00), and 71% (95% CI, 0.61, 0.82), respectively. The overall efficacy of first and second dose vaccination against the Alfa variant was 84% (95% CI, 0.84, 0.84) and 77% (95% CI, 0.57, 0.97), respectively, the highest among other variants.

Conclusion
mRNA-based vaccines against COVID-19 showed the highest total efficacy and effectiveness than other vaccines. In general, administering the second dose produced a more reliable response and higher effectiveness than a single dose.
Dysbiosis of gut microbiota inhibits NMNAT2 to promote neurobehavioral deficits and oxidative stress response in the 6-OHDA-lesioned rat model of Parkinson’s disease
Authors: Yu Jianjun , Meng Jianhong , Qin Zhengwei , Yu Yuan , Liang Yingxin , Wang Yanjun , Min Dongmei 
Published: May 2023

Abstract
Background
New data are accumulating on gut microbial dysbiosis in Parkinson’s disease (PD), while the specific mechanism remains uncharacterized. This study aims to investigate the potential role and pathophysiological mechanism of dysbiosis of gut microbiota in 6-hydroxydopamine (6-OHDA)-induced PD rat models.

Methods
The shotgun metagenome sequencing data of fecal samples from PD patients and healthy individuals were obtained from the Sequence Read Archive (SRA) database. The diversity, abundance, and functional composition of gut microbiota were further analyzed in these data. After the exploration of the functional pathway-related genes, KEGG and GEO databases were used to obtain PD-related microarray datasets for differential expression analysis. Finally, in vivo experiments were performed to confirm the roles of fecal microbiota transplantation (FMT) and upregulated NMNAT2 in neurobehavioral symptoms and oxidative stress response in 6-OHDA-lesioned rats.

Results
Significant differences were found in the diversity, abundance, and functional composition of gut microbiota between PD patients and healthy individuals. Dysbiosis of gut microbiota could regulate NAD+ anabolic pathway to affect the occurrence and development of PD. As a NAD+ anabolic pathway-related gene, NMNAT2 was poorly expressed in the brain tissues of PD patients. More importantly, FMT or overexpression of NMNAT2 alleviated neurobehavioral deficits and reduced oxidative stress in 6-OHDA-lesioned rats.

Conclusions
Taken together, we demonstrated that dysbiosis of gut microbiota suppressed NMNAT2 expression, thus exacerbating neurobehavioral deficits and oxidative stress response in 6-OHDA-lesioned rats, which could be rescued by FMT or NMNAT2 restoration.
Ultrastructural study confirms the formation of single and heterotypic syncytial cells in bronchoalveolar fluids of COVID-19 patients
Authors: Chaudhary Shikha , Yadav Ravi P. , Kumar Shailendra , Yadav Subhash Chandra 
Published: May 2023

AbstractBackgroundSARS-CoV-2 was reported to induce cell fusions to form multinuclear syncytia that might facilitate viral replication, dissemination, immune evasion, and inflammatory responses. In this study, we have reported the types of cells involved in syncytia formation at different stages of COVID-19 disease through electron microscopy.MethodsBronchoalveolar fluids from the mild (n = 8, SpO2 > 95%, no hypoxia, within 2–8 days of infection), moderate (n = 8, SpO2 90% to ≤ 93% on room air, respiratory rate ≥ 24/min, breathlessness, within 9–16 days of infection), and severe (n = 8, SpO2 < 90%, respiratory rate > 30/min, external oxygen support, after 17th days of infection) COVID-19 patients were examined by PAP (cell type identification), immunofluorescence (for the level of viral infection), scanning (SEM), and transmission (TEM) electron microscopy to identify the syncytia.ResultsImmunofluorescence studies (S protein-specific antibodies) from each syncytium indicate a very high infection level. We could not find any syncytial cells in mildly infected patients. However, identical (neutrophils or type 2 pneumocytes) and heterotypic (neutrophils-monocytes) plasma membrane initial fusion (indicating initiation of fusion) was observed under TEM in moderately infected patients. Fully matured large-size (20–100 μm) syncytial cells were found in severe acute respiratory distress syndrome (ARDS-like) patients of neutrophils, monocytes, and macrophage origin under SEM.ConclusionsThis ultrastructural study on the syncytial cells from COVID-19 patients sheds light on the disease’s stages and types of cells involved in the syncytia formations. Syncytia formation was first induced in type II pneumocytes by homotypic fusion and later with haematopoetic cells (monocyte and neutrophils) by heterotypic fusion in the moderate stage (9–16 days) of the disease. Matured syncytia were reported in the late phase of the disease and formed large giant cells of 20 to 100 μm.
Language considerations for children of parents with substance use disorders
Authors: Appleseth Hannah S. , Moyers Susette A. , Crockett-Barbera Erica K. , Hartwell Micah , Arndt Stephan , Croff Julie M. 
Published: May 2023

AbstractParents with substance use disorders are highly stigmatized by multiple systems (e.g., healthcare, education, legal, social). As a result, they are more likely to experience discrimination and health inequities [1, 2]. Children of parents with substance use disorders often do not fare any better, as they frequently experience stigma and poorer outcomes by association [3, 4]. Calls to action for person-centered language for alcohol and other drug problems have led to improved terminology [5–8]. Despite a long history of stigmatizing, offensive labels such as “children of alcoholics” and “crack babies,” children have been left out of person-centered language initiatives. Children of parents with substance use disorders can feel invisible, shameful, isolated, and forgotten—particularly in treatment settings when programming is centered on the parent [9, 10]. Person-centered language is shown to improve treatment outcomes and reduce stigma [11, 12]. Therefore, we need to adhere to consistent, non-stigmatizing terminology when referencing children of parents with substance use disorders. Most importantly, we must center the voices and preferences of those with lived experience to enact meaningful change and effective resource allocation.
Platelet-rich plasma injection for the treatment of ankle osteoarthritis: a systematic review and meta-analysis
Authors: Laohajaroensombat Sukij , Prusmetikul Suwimol , Rattanasiri Sasivimol , Thakkinstian Ammarin , Woratanarat Patarawan 
Published: May 2023

Abstract
Background
Platelet-rich plasma (PRP) injection for ankle osteoarthritis (OA) treatment showed contradictory results. This review was aimed to pool individual studies which assessed the efficacy of PRP for ankle OA treatment.

Methods
This study was conducted following the preferred report items of systematic review and meta-analysis guideline. PubMed and Scopus were searched up to January 2023. Meta-analysis, or individual randomised controlled trial (RCT), or observational studies were included if they involved ankle OA with aged ≥ 18 years, compared before–after receiving PRP, or PRP with other treatments, and reported visual analog scale (VAS) or functional outcomes. Selection of eligible studies and data extraction were independently performed by two authors. Heterogeneity test using Cochrane Q test and the I2-statistic were assessed. Standardised (SMD) or unstandardised mean difference (USMD) and 95% confidence interval (CI) were estimated and pooled across studies.

Results
Three studies from meta-analysis and two individual studies were included, which consisted of one RCT and four before–after studies with 184 ankle OAs and 132 PRP. The average age was 50.8–59.3 years, and 25–60% of PRP injected cases were male. The number of primary ankle OA was accounted to 0–100%. When compared to before treatment, PRP significantly reduced VAS and functional score at 12 weeks with pooled USMD of − 2.80, 95% CI − 3.91, − 2.68; p < 0.001 (Q = 82.91, p < 0.001; I2 96.38%), and pooled SMD of 1.73, 95% CI 1.37, 2.09; p < 0.001 (Q = 4.87, p = 0.18; I2 38.44%), respectively.

Conclusion
PRP may beneficially improve pain and functional scores for ankle OA in a short-term period. Its magnitude of improvement seems to be similar to placebo effects from the previous RCT. A large-scale RCT with proper whole blood and PRP preparation processes is required to prove treatment effects.
Trial registration PROSPERO number CRD42022297503.
Reliability and validity of a mobile application for femoral anteversion measurement in adult patients
Authors: Lee Joon Woo , Oh Minjoon , Choi Mi Na , Lee Seung Yeol 
Published: May 2023

Abstract
Background
Femoral torsion is primarily measured by computed tomography (CT), which has cost and radiation exposure concerns. Recently, femoral anteversion measurement by a simple radiograph-based mobile application was developed for patients with cerebral palsy. This study aimed to validate the use of a mobile application that can reconstruct a three-dimensional model of the femur from conventional radiographs for adults.

Methods
Medical records of 76 patients undergoing conventional femur anteroposterior/lateral radiography and femur CT were reviewed. To measure femoral anteversion on the reconstructed 3-dimensional images from both the mobile application and CT, we drew a line which connects the posterior margins of each femoral condyle and another line which passes through the center of the femoral head and the midpoint of the femoral neck. After the reliability test, a single examiner measured femoral anteversion on the mobile application and CT. Pearson’s correlation analysis was used to assess the correlation between anteversion on the mobile application and CT.

Results
Femoral anteversion measured on both CT and the mobile application showed excellent reliability (intraclass correlation coefficients: 0.808–0.910). The correlation coefficient between femoral anteversion measured using CT and the mobile application was 0.933 (p < 0.001). The correlation of femoral anteversion between CT and the mobile application was relatively higher in the absence of metallic implants (correlation coefficient: 0.963, p < 0.001) than in the presence of metallic implants (correlation coefficient: 0.878, p < 0.001).

Conclusions
Using two simple radiographs, the mobile application showed excellent validity and reliability for femoral anteversion measurement in adults as compared to CT. With the high accessibility and cost-effectiveness of this mobile application, femoral torsion measurement might be easily performed with simple radiography in clinical settings in the near future.