bluuebunny/crossref_metadata_2025_split huggingface dataset:
Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
Authors: Valencia-Peña Claudia , Jiménez-Sanchez Paula , Saldarriaga Wilmar , Payán-Gómez César 
Published: August 2020

AbstractBackground22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar prevalence of DiGeorge syndrome (1 in each 4000 new-borns), in which the same chromosomal region that is duplicated in Dup22q11.2 is deleted.Case presentationWe report a patient with intellectual disability, psychomotor development delay, hearing loss with disyllable pronunciation only, hyperactivity, self-harm, hetero-aggressive behaviour, facial dysmorphism, left facial paralysis, post-axial polydactyly, and for the first time in patients with Dup22q11.2, optic nerve coloboma and dysplasia in optic nerve. Array comparative genomic hybridization showed a 22q11.23 duplication of 1.306 million base pairs.ConclusionsNew ocular findings in Dup22q11.2 syndrome, such as coloboma and dysplasia in the optic nerve, are reported here, contributing to the phenotypic characterization of a rarely diagnosed genetic syndrome. A complete characterization of the phenotype is necessary to increase the rate of clinical suspicion and then the genetic diagnostic. In addition, through bioinformatics analysis of the genes mapped to the 22q11.2 region, it is proposed that deregulation of the SPECC1L gene could be implicated in the development of ocular coloboma.
Intrasession repeatability of pupil size measurements under different light levels provided by a multidiagnostic device in healthy eyes
Authors: Piñero David P. , de Fez Dolores , Cabezos Inmaculada , López-Navarro Alberto , Caballero María T. , Camps Vicente J. 
Published: August 2020

Abstract
Background
The measurement of the pupillary function is an indispensable test in some eye examinations, being necessary the evaluation of the precision of instruments performing such measures. The aim of this study was to evaluate the intrasession repeatability of pupil size measurements provided by a multidiagnostic platform in a large sample of healthy eyes.

Methods
This prospective study enrolled 100 healthy eyes of 100 patients, with ages ranging from 23 to 65 years old. Repeated pupil size measures under photopic (P, 220 lx), mesopic (M, 160 lx), low mesopic (L, 70 lx), and scotopic conditions (S, 1 lx) were obtained with the VX120 system (Visionix-Luneau Technologies, Chartres, France) after a complete eye exam. Likewise, pupil size was also measured once in the fellow eye in a total of 75 eyes. The level of intrasession variability as well as differences between fellow eyes were evaluated.

Results
Most of differences between repeated measures did not exceed 0.5 mm (82% of S and 100% of P below this value). No significant differences between these repeated measures were found for S (p = 0.099) and L (p = 0.751). However, statistically significant differences were found between repeated measures for M (p = 0.002) and P (p = 0.003). The analysis of clinical relevance of differences between pairs (Passing-Bablok) only confirmed the clinical relevance of differences between the first and second repeated measurement of M. Concerning the comparative analysis between fellow eyes, no statistically significant differences in pupil size were found between right and left eyes in any light condition evaluated (p ≥ 0.227).

Conclusions
The VX120 system can provide consistent measurements of pupil size under scotopic, low mesopic and photopic conditions, with a relative limitation under mesopic conditions.
Risky driving behaviour in Abu Dhabi, United Arab Emirates: a cross-sectional, survey-based study
Authors: AlKetbi Latifa Mohammad Baynouna , Grivna Michal , Al Dhaheri Saeed 
Published: August 2020

Abstract
Background
Traffic collision fatality rates per mile travelled have declined in Abu Dhabi similar to many developed countries. Nevertheless, the rate is still significantly higher than the average of countries with similar GDP and socio-demographic indicators. The literature on the subject in the UAE is limited especially in the area of studying drivers behaviour. This study aims to find determinants of risky driving behaviours that precipitate having a road traffic collision (RTC) in the United Arab Emirates (UAE).

Methods
A cross-sectional, survey-based study was employed. Participants were 327 active drivers who were attending Abu Dhabi Ambulatory Health Care Services clinics. They were provided with a questionnaire consisting of demography, lifestyle history, medical history, driving history, and an RTC history. They were also given a driving behaviour questionnaire, a distracted driving survey, depression screening and anxiety screening.

Results
Novice drivers (less than 25 years old) were 42% of the sample and 79% were less than 35 years. Those who reported a history of an RTC constituted 39.8% of the sample; nearly half (47.1%) did not wear a seatbelt during the collision. High scores in the driving behaviour questionnaire and high distraction scores were evident in the sample. Most distraction-prone individuals were young (90.5% were less than 36 years old). High scores in the driving behaviour questionnaire were also associated with high distraction scores (p < 0.001). Respondents with high depression risk were more likely to be involved in the RTC. With each one-point increase in the driver’s distraction score, the likelihood of a car crash being reported increased by 4.9%.

Conclusion
Drivers in the UAE engage in risky behaviours and they are highly distracted. Some behaviours that contribute to severe and even fatal injuries in RTCs include failing to wear a seatbelt and being distracted. Younger people were more likely distracted, while older drivers were more likely to have higher depression scores. Depression is suggested as a determinant factor in risky driving. These findings are informative to other countries of similar socioeconomic status to the UAE and to researchers in this field in general.
What are the potential advantages and disadvantages of merging health insurance funds? A qualitative policy analysis from Iran
Authors: Bazyar Mohammad , Yazdi-Feyzabadi Vahid , Rahimi Nouroddin , Rashidian Arash 
Published: August 2020

Abstract
Background
In countries with health insurance systems, the number and size of insurance funds along with the amount of risk distribution among them are a major concern. One possible solution to overcome problems resulting from fragmentation is to combine risk pools to create a single pool. This study aimed to investigate the potential advantages and disadvantages of merging health insurance funds in Iran.

Methods
In this qualitative study, a purposeful sampling with maximum variation was used to obtain representativeness and rich data. To this end, sixty-seven face-to-face interviews were conducted. Moreover, a documentary review was used as a supplementary source of data collection. Content analysis using the ‘framework method’ was used to analyze the data. Four trustworthiness criteria, including credibility, transferability, dependability, and confirmability, were used to assure the quality of results.

Results
The potential consequences were grouped into seven categories, including stewardship, financing, population, benefit package, structure, operational procedures, and interaction with providers. According to the interviewees, controlling total health care expenditures; improving strategic purchasing; removing duplication in population coverage; centralizing the profile of providers in a single database; controlling the volume of provided health care services; making hospitals interact with single insurance with a single set of instructions for contracting, claiming review, and reimbursement; and reducing administrative costs were among the main benefits of merging health insurance funds. The interviewees enumerated the following drawbacks as well: the social security organization’s unwillingness to collect insurance premiums from private workers actively as before; increased dissatisfaction among population groups enjoying a generous basic benefits package; risk of financial fraud and corruption due to gathering all premiums in a single bank; and risk of putting more financial pressure on providers in case of delay in reimbursement with a single-payer system.

Conclusion
Merging health insurance schemes in Iran is influenced by a wide range of potential merits and drawbacks. Thus, to facilitate the process and lessen opponents’ objection, policy makers should act as brokers by taking into account contextual factors and adopting tailored policies to respectively maximize and minimize the potential benefits and drawbacks of consolidation in Iran.
Perceived utility and feasibility of pathogen genomics for public health practice: a survey among public health professionals working in the field of infectious diseases, Belgium, 2019
Authors: Van Goethem N. , Struelens M. J. , De Keersmaecker S. C. J. , Roosens N. H. C. , Robert A. , Quoilin S. , Van Oyen H. , Devleesschauwer B. 
Published: August 2020

Abstract
Background
Pathogen genomics is increasingly being translated from the research setting into the activities of public health professionals operating at different levels. This survey aims to appraise the literacy level and gather the opinions of public health experts and allied professionals working in the field of infectious diseases in Belgium concerning the implementation of next-generation sequencing (NGS) in public health practice.

Methods
In May 2019, Belgian public health and healthcare professionals were invited to complete an online survey containing eight main topics including background questions, general attitude towards pathogen genomics for public health practice and main concerns, genomic literacy, current and planned NGS activities, place of NGS in diagnostic microbiology pathways, data sharing obstacles, end-user requirements, and key drivers for the implementation of NGS. Descriptive statistics were used to report on the frequency distribution of multiple choice responses whereas thematic analysis was used to analyze free text responses. A multivariable logistic regression model was constructed to identify important predictors for a positive attitude towards the implementation of pathogen genomics in public health practice.

Results
146 out of the 753 invited public health professionals completed the survey. 63% of respondents indicated that public health agencies should be using genomics to understand and control infectious diseases. Having a high level of expertise in the field of pathogen genomics was the strongest predictor of a positive attitude (OR = 4.04, 95% CI = 1.11 – 17.23). A significantly higher proportion of data providers indicated to have followed training in the field of pathogen genomics compared to data end-users (p < 0.001). Overall, 79% of participants expressed interest in receiving further training. Main concerns were related to the cost of sequencing technologies, data sharing, data integration, interdisciplinary working, and bioinformatics expertise.

Conclusions
Belgian health professionals expressed favorable views about implementation of pathogen genomics in their work activities related to infectious disease surveillance and control. They expressed the need for suitable training initiatives to strengthen their competences in the field. Their perception of the utility and feasibility of pathogen genomics for public health purposes will be a key driver for its further implementation.
Chest roentgenography is complementary to interferon-gamma release assay in latent tuberculosis infection screening of rheumatic patients
Authors: Wang Ping-Huai , Lin Chou-Han , Chang Ting-Hui , Wu Chien-Sheng 
Published: August 2020

Abstract
Background
A study of latent tuberculosis infection (LTBI) burden by chest roentgenography (CXR) with reference to interferon-gamma release assay (IGRA) is still lacking in rheumatic patients of an intermediate tuberculosis burden area.

Methods
We retrospectively reviewed clinical data of patients with rheumatoid arthritis (RA), ankylosing spondylitis (AS), or psoriatic arthritis (PsA) receiving LTBI screening for biologics from Jan 2013 to April 2014.

Results
A total of 238 rheumatic patients who underwent LTBI screening were included in this study, of whom 46 (19.3%) had positive IGRA tests, 178 (74.8%) had negative results, and 14 (5.9%) had indeterminate results. Radiological findings suggesting healed tuberculosis (CXR-old-TB) were found in 18.1% of all patients, 23.9% in the IGRA -positive patients vs 16.9% in the IGRA-negative patients (OR 1.55 95% CI: 0.71–3.39, p = 0.27). Forty (40/46, 87.0%) IGRA-positive patients received isoniazid prophylaxis and 77.5% of them finished treatment. Six patients developed adverse effects of isoniazid treatment, resulting in an overall number needed to harm (NNH) of 6.7 (40/6). IGRA-non-positive patients with old TB-suggestive CXR comprised 13.4% (32/238) of all our rheumatic patients, and one of them developed pulmonary tuberculosis within one year after screening.

Conclusions
LTBI disease burden in rheumatic patients is substantial according to the estimation of CXR and IGRA screening. Correlation between CXR and IGRA is not significant in rheumatic patients, which implies their complementary roles. IGRA-non-positive patients with old TB-suggestive CXR comprise a significant portion in rheumatic patients and merit cautious follow-up by rheumatologists, tuberculosis specialists, and pulmonologists.
Repository corticotropin injection attenuates collagen-induced arthritic joint structural damage and has enhanced effects in combination with etanercept
Authors: Decker Dima A. , Higgins Paul , Hayes Kyle , Bollinger Chris , Becker Patrice , Wright Dale 
Published: August 2020

Abstract
Background
Melanocortin receptor (MCR) agonists have anti-inflammatory and immunomodulatory properties mediated by receptors expressed on cells relevant to arthritis. Repository corticotropin injection (RCI; Acthar® Gel), an MCR agonist preparation, is approved as adjunctive therapy for rheumatoid arthritis (RA), but its mechanism of action in RA is unclear. This study explored the efficacy of RCI as monotherapy or adjunctive therapy with etanercept (ETN) in an established animal model of collagen-induced arthritis (CIA).

Methods
After induction of CIA, rats (n = 10 per group) were randomized to receive subcutaneous RCI (40, 160, or 400 U/kg twice daily) alone or in combination with ETN (10 mg/kg 3 times daily), ETN alone, or vehicle (on days 13 through 19). Inflammation was assessed via changes in paw edema. Bone damage was determined by microfocal computed tomography histopathology, and immunohistochemistry. Statistical analyses were performed using a 2-way analysis of variance (ANOVA) followed by the Newman-Keuls, Dunn’s, or Dunnett’s multiple comparisons test or a 1-way ANOVA followed by the Dunnett’s or Holm-Sidak multiple comparisons test.

Results
RCI administration resulted in dose-dependent decreases in ankle edema and histopathologic measures of inflammation, pannus formation, cartilage damage, bone resorption, and periosteal bone formation. RCI and ETN showed combined benefits on all parameters measured. Radiographic evidence of bone damage was significantly reduced in rats that received RCI alone or in combination with ETN. This reduction in bone density loss correlated with decreases in the number of CD68-positive macrophages and cathepsin K–positive osteoclasts within the lesions.

Conclusions
As monotherapy or adjunctive therapy with ETN, RCI attenuated CIA-induced joint structural damage in rats. These data support the clinical efficacy of RCI as adjunctive therapy for patients with RA.
Comprehensive study of altered proteomic landscape in proximal renal tubular epithelial cells in response to calcium oxalate monohydrate crystals
Authors: Wang Zhu , Li Ming-xing , Xu Chang-zhi , Zhang Ying , Deng Qiong , Sun Rui , Hu Qi-yi , Zhang Sheng-ping , Zhang Jian-wen , Liang Hui 
Published: August 2020

Abstract
Background
Calcium oxalate monohydrate (COM), the major crystalline composition of most kidney stones, induces inflammatory infiltration and injures in renal tubular cells. However, the mechanism of COM-induced toxic effects in renal tubular cells remain ambiguous. The present study aimed to investigate the potential changes in proteomic landscape of proximal renal tubular cells in response to the stimulation of COM crystals.

Methods
Clinical kidney stone samples were collected and characterized by a stone component analyzer. Three COM-enriched samples were applied to treat human proximal tubular epithelial cells HK-2. The proteomic landscape of COM-crystal treated HK-2 cells was screened by TMT-labeled quantitative proteomics analysis. The differentially expressed proteins (DEPs) were identified by pair-wise analysis. Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis of DEPs were performed. Protein interaction networks were identified by STRING database.

Results
The data of TMT-labeled quantitative proteomic analysis showed that a total of 1141 proteins were differentially expressed in HK-2 cells, of which 699 were up-regulated and 442 were down-regulated. Functional characterization by KEGG, along with GO enrichments, suggests that the DEPs are mainly involved in cellular components and cellular processes, including regulation of actin cytoskeleton, tight junction and focal adhesion. 3 high-degree hub nodes, CFL1, ACTN and MYH9 were identified by STRING analysis.

Conclusion
These results suggested that calcium oxalate crystal has a significant effect on protein expression profile in human proximal renal tubular epithelial cells.
Seed germination prediction of Salvia limbata under ecological stresses in protected areas: an artificial intelligence modeling approach
Authors: Saffariha Maryam , Jahani Ali , Potter Daniel 
Published: August 2020

Abstract
Background
Salvia is a large, diverse, and polymorphous genus of the family Lamiaceae, comprising about 900 ornamentals, medicinal species with almost cosmopolitan distribution in the world. The success of Salvia limbata seed germination depends on a numerous ecological factors and stresses. We aimed to analyze Salvia limbata seed germination under four ecological stresses of salinity, drought, temperature and pH, with application of artificial intelligence modeling techniques such as MLR (Multiple Linear Regression), and MLP (Multi-Layer Perceptron). The S.limbata seeds germination was tested in different combinations of abiotic conditions. Five different temperatures of 10, 15, 20, 25 and 30 °C, seven drought treatments of 0, −2, −4, −6, −8, −10 and −12 bars, eight treatments of salinity containing 0, 50, 100.150, 200, 250, 300 and 350 mM of NaCl, and six pH treatments of 4, 5, 6, 7, 8 and 9 were tested. Indeed 228 combinations were tested to determine the percentage of germination for model development.

Results
Comparing to the MLR, the MLP model represents the significant value of R2 in training (0.95), validation (0.92) and test data sets (0.93). According to the results of sensitivity analysis, the values of drought, salinity, pH and temperature are respectively known as the most significant variables influencing S. limbata seed germination. Areas with high moisture content and low salinity in the soil have a high potential to seed germination of S. limbata. Also, the temperature of 18.3 °C and pH of 7.7 are proposed for achieving the maximum number of germinated S. limbata seeds.

Conclusions
Multilayer perceptron model helps managers to determine the success of S.limbata seed planting in agricultural or natural ecosystems. The designed graphical user interface is an environmental decision support system tool for agriculture or rangeland managers to predict the success of S.limbata seed germination (percentage) in different ecological constraints of lands.
Medical student perceptions of curricular influences on their wellbeing: a qualitative study
Authors: Byrnes Christine , Ganapathy Vaishnavi Anu , Lam Melinda , Mogensen Lise , Hu Wendy 
Published: August 2020

Abstract
Background
Medical student mental health and wellbeing is highly topical and the subject of much research. While theoretically informed definitions of wellbeing abound, how do medical students themselves understand and perceive wellbeing? What aspects of the curriculum do they regard as affecting their wellbeing and mental health? This study explored these questions, and aimed to identify factors associated with student acceptability of wellbeing programs and interventions.

Methods
All students at an Australian undergraduate medical school (n = 619) were invited to complete a qualitative online questionnaire between 2017 and 2018 following the introduction of several wellbeing initiatives, including “Wellbeing Days” (WBD). WBD allow students to take single absence days for self-care. Open-ended questions were asked about perceptions and experience of mental health and wellbeing, and views on interventions to improve wellbeing such as WBD. Thematic analysis was conducted across all responses. Three authors developed preliminary themes, which were then refined and confirmed by all researchers. Thematic saturation was achieved within data from the 68 respondents, which included participants from all cohorts.

Results
Participants described wellbeing as positively experienced work/life balance, impacted by four factors; contact hours, peer relationships, staff relationships, and trust in how wellbeing initiatives were used. Long contact hours were deemed incompatible with self-care activities, maintaining employment, and seeking professional medical/psychological help. Peers could promote wellbeing by offering social and academic support, but also undermine wellbeing by being competitors. Degree of trust, engagement and communication with staff influenced acceptability of interventions. Participants viewed initiatives such as WBD favourably, but distrust of peers, and of staff, led to perceptions that WBD could be prone to misuse, or used for surveillance rather than support.

Conclusion
Our findings suggest that wellbeing days which allow self-care, reduction in contact hours, and peer support may promote student wellbeing, but the acceptability of any interventions is influenced by relationships between staff and students, and in particular, trust in these relationships. We suggest strategies to strengthen trust and further research to investigate the relationship between trust and perceptions of wellbeing in self and peers.