bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel mutation of BEST1 gene in Best disease
Authors: Campa Claudio , Parmeggiani Francesco , Spena Rossella , Ognibene Davide , Passerini Ilaria , Gualandi Francesca 
Published: April 2020

Purpose To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy. Methods A patient with bilateral multiple retinal yellowish lesions at the posterior pole underwent fluorescein angiography, fundus autofluorescence, optical coherence tomography, electrooculogram and blood sample for genetic testing. Results A diagnosis of a Best vitelliform macular dystrophy was made. Heterozygous mutation c.76G > A (p.Gly26Ser) in exon 2 of the BEST1 gene was found. Conclusion These findings contribute to expand the mutation spectrum of BEST1 gene.
The impacts of accountable care organizations on patient experience, health outcomes and costs: a rapid review
Authors: Wilson Michael , Guta Adrian , Waddell Kerry , Lavis John , Reid Robert , Evans Cara 
Published: April 2020

Objectives Accountable care organizations were implemented as a system-level approach to address quality differences and curb increasing healthcare costs in the United States of America, and have garnered the interest of policy makers in other countries to support better management of patients. The objectives of this paper are to: (1) identify the impacts of accountable care organizations on improving the quadruple aim goals of improving patient experience of care, enhancing population health outcomes, reducing the per capita cost of health care and ensuring positive provider experiences and (2) determine how and why such impacts have been achieved through accountable care organizations. Methods We used a rapid review approach, searching Health Systems Evidence (for systematic reviews) and PubMed (for reviews and studies). Results were reviewed for inclusion independently by two researchers. Data were extracted by one reviewer and checked for consistency by another. Results We identified one recent systematic review and 59 primary studies that addressed the first objective ( n = 54), the second objective ( n = 4) or both objectives ( n = 1). The reviewed studies suggest that accountable care organizations reduce costs without reducing quality. Key findings related to objective 1 include: (1) there are positive trends across the quadruple–aim outcomes for accountable care organizations as compared to Medicare fee-for-service or group physician fee-for-service models; (2) accountable care organizations produced modest cost savings, which are largely attributable to savings in outpatient expenses among the most medically complex patients and reductions in the delivery of low-value services; (3) accountable care organization models met the majority of quality measures and perform better than their fee-for-service counterparts and (4) there is relatively little evidence about the impact of accountable care organizations on provider experience. Qualitative studies related to objective 2 highlighted mechanisms that were important for enabling accountable care organizations, including supplemental staff to enhance coordination and accountable care organization-wide electronic health records. Conclusions General trends and increased adoption of models similar to accountable care organizations outside of the USA suggest that these models outperform traditional fee-for-service models across the quadruple aim goals, although with mixed evidence about health outcomes.
Circular RNA circ-CDYL sponges miR-1180 to elevate yes-associated protein in multiple myeloma
Authors: Chen Fang , Wang Xiaohui , Fu Shuang , Wang Shaokun , Fu Yu , Zhang Jihong , Liu Zhuogang 
Published: April 2020

The covalently closed circular RNA has recently been proposed as a pivotal player in tumorigenesis. In the current study, we found that circ-CDYL was notably elevated in multiple myeloma tissue and plasma samples and had good diagnostic and prognostic efficacy. Functional assays showed that circ-CDYL enhanced the viability and DNA synthesis of multiple myeloma cells and inhibited apoptosis. Mechanically, cytoplasmic circ-CDYL was co-localized with miR-1180, and circ-CDYL absorbed miR-1180 to upregulate yes-associated protein (YAP), thereby facilitating multiple myeloma progression. Importantly, we further confirmed the existence of this circ-CDYL/miR-1180/YAP regulatory axis in vivo by using the xenograft tumor model. Taken together, our data demonstrate that circ-CDYL is novel promoter of multiple myeloma, and targeting circ-CDYL and its associated network implicates the therapeutic possibility for multiple myeloma patients. Impact statement Multiple myeloma (MM) is an extremely complex and heterogeneous disease, and its pathogenesis is poorly understood. Here, we described an important MM-related circular RNA (circRNA), circ-CDYL. It was remarkably increased in both MM cells and plasma. Depletion of circ-CDYL evidently stunted MM growth. Circ-CDYL could absorb miR-1180 and alleviated the repression of miR-1180 on YAP, leading to increased YAP expression, ultimately triggering MM uncontrolled growth. Therefore, our findings advance the understanding of MM pathogenesis, and also raise the possibility of considering circ-CDYL as a potential therapeutic intervention for MM.
Why CBA and NIMBY Syndrome Are Important Challenges to China’s BRI?
Authors: Euston Quah , Nursultan Iuldashov 
Published: April 2020

The purpose of this article is to make a preliminary assessment of the Belt and Road Initiative (BRI) in the context of environmental impacts and arising not-in-my-backyard (NIMBY) opposition in host countries. We discuss the use of cost-benefit analysis (CBA) in developing countries (most members of BRI) and application of the available conflict-resolution mechanisms to deal with siting issues. We review these instruments and suggest a way forward for BRI NIMBY projects.JEL Codes: O53, R58
Nanopore basecalling from a perspective of instance segmentation
Authors: Zhang Yao-zhong , Akdemir Arda , Tremmel Georg , Imoto Seiya , Miyano Satoru , Shibuya Tetsuo , Yamaguchi Rui 
Published: April 2020

Abstract
Background
Nanopore sequencing is a rapidly developing third-generation sequencing technology, which can generate long nucleotide reads of molecules within a portable device in real-time. Through detecting the change of ion currency signals during a DNA/RNA fragment’s pass through a nanopore, genotypes are determined. Currently, the accuracy of nanopore basecalling has a higher error rate than the basecalling of short-read sequencing. Through utilizing deep neural networks, the-state-of-the art nanopore basecallers achieve basecalling accuracy in a range from 85% to 95%.

Result
In this work, we proposed a novel basecalling approach from a perspective of instance segmentation. Different from previous approaches of doing typical sequence labeling, we formulated the basecalling problem as a multi-label segmentation task. Meanwhile, we proposed a refined U-net model which we call UR-net that can model sequential dependencies for a one-dimensional segmentation task. The experiment results show that the proposed basecaller URnano achieves competitive results on the in-species data, compared to the recently proposed CTC-featured basecallers.

Conclusion
Our results show that formulating the basecalling problem as a one-dimensional segmentation task is a promising approach, which does basecalling and segmentation jointly.
Molecular marker assisted gene stacking for disease resistance and quality genes in the dwarf mutant of an elite common wheat cultivar Xiaoyan22
Authors: Zheng Weijun , Li Song , Liu ZiHui , Zhou Qi , Feng Yanru , Chai Shoucheng 
Published: April 2020

Abstract
Background
Development of wheat cultivars with multiple disease resistance and high quality are major objectives in modern wheat breeding programs. Gene stacking is an efficient approach to achieve this target. In this study, we pyramided yellow rust resistance gene (Yr26), powdery mildew resistance gene (ML91260) and high-molecular-weight glutenin subunits Dx5 + Dy10 into the dwarf mutant of an elite wheat cultivar, Xiaoyan22.

Results
Six pyramided wheat lines were obtained by molecular marker-assisted selection (MAS) and field evaluation of disease resistance. The desirable agronomic traits of pyramided lines, their identity with the original cultivar Xiaoyan22 except for plant height, tiller number and disease resistance, was achieved in this study. Meanwhile, the yield of pyramided lines is higher than Xiaoyan22 in the field test. In addition, analysis of flour quality indicated that the dough stability time of pyramided lines was longer than that of Xiaoyan22.

Conclusions
Six pyramided wheat lines with two disease resistance and high quality were achieved in this study. It is feasible to improve multiple agronomic traits simultaneously by rational application of MAS.
Genomic analysis of a riboflavin-overproducing Ashbya gossypii mutant isolated by disparity mutagenesis
Authors: Kato Tatsuya , Azegami Junya , Yokomori Ami , Dohra Hideo , El Enshasy Hesham A. , Park Enoch Y. 
Published: April 2020

Abstract
Background
Ashbya gossypii naturally overproduces riboflavin and has been utilized for industrial riboflavin production. To improve riboflavin production, various approaches have been developed. In this study, to investigate the change in metabolism of a riboflavin-overproducing mutant, namely, the W122032 strain (MT strain) that was isolated by disparity mutagenesis, genomic analysis was carried out.

Results
In the genomic analysis, 33 homozygous and 1377 heterozygous mutations in the coding sequences of the genome of MT strain were detected. Among these heterozygous mutations, the proportion of mutated reads in each gene was different, ranging from 21 to 75%. These results suggest that the MT strain may contain multiple nuclei containing different mutations. We tried to isolate haploid spores from the MT strain to prove its ploidy, but this strain did not sporulate under the conditions tested. Heterozygous mutations detected in genes which are important for sporulation likely contribute to the sporulation deficiency of the MT strain. Homozygous and heterozygous mutations were found in genes encoding enzymes involved in amino acid metabolism, the TCA cycle, purine and pyrimidine nucleotide metabolism and the DNA mismatch repair system. One homozygous mutation in AgILV2 gene encoding acetohydroxyacid synthase, which is also a flavoprotein in mitochondria, was found. Gene ontology (GO) enrichment analysis showed heterozygous mutations in all 22 DNA helicase genes and genes involved in oxidation-reduction process.

Conclusion
This study suggests that oxidative stress and the aging of cells were involved in the riboflavin over-production in A. gossypii riboflavin over-producing mutant and provides new insights into riboflavin production in A. gossypii and the usefulness of disparity mutagenesis for the creation of new types of mutants for metabolic engineering.
Comparison of pulmonary vein reconnection patterns after multielectrode phased radiofrequency- and cryoballoon ablation of atrial fibrillation
Authors: Wieczorek Marcus , Sassani Kiarash , Hoeltgen Reinhard 
Published: April 2020

AbstractBackgroundPulmonary vein isolation (PVI) using phased radiofrequency (RF) energy has been shown to be effective in the treatment of atrial fibrillation (AF).MethodsWe characterize and compare pulmonary vein (PV) reconnection at repeat ablation in patients with AF after initially successful PVI using phased RF technology (PVAC) or 2nd generation cryoballoon (CB). Eighty five patients undergoing redo PVI using multielectrode PVAC phased RF catheter and 66 patients after CB PVI were enrolled 9.7 ± 3.4 months after the initial ablation procedure.ResultsThe percentage of patients with PV reconnection(s) was comparably high between both groups (93% PVAC and 92% CB). However, 75% of all PVs and left common trunks (CTs) isolated with PVAC were reconnected, compared with 52% reconnections after CB PVI (p < 0.001). A mean of 2.79 ± 1.2 PVs and CTs/patient were reconnected after PVAC PVI compared with 1.97 ± 0.8 in CB patients,p < 0.0001. No patients in the CB group had 4 reconnected PVs, while this pattern of reconnection was observed in 33% in the PVAC group (p < 0.0001). The percentage of patients in the PVAC group with ≥3 reconnected PVs was significantly higher compared with CB patients (56 patients (66%) vs. 17 patients (26%),p < 0.0001), while the percentage of patients with no PV reconnection was comparably low in PVAC and CB patients (7 and 8%, respectively). CTs were most frequently reconnected after PVAC PVI (94%) and left superior PVs after CB ablation (67%), respectively.ConclusionsThe number of patients with recurrent AF and PV reconnection(s) at redo PVI was comparably high between both groups. However, the extent and distribution of PV reconnections was different in many aspects, indicating more stable atrial lesions after CB PVI compared with PVAC technology.
Prevalence of loneliness and association with depressive and anxiety symptoms among retirees in Northcentral Nigeria: a cross-sectional study
Authors: Igbokwe Chima C. , Ejeh Veronica J. , Agbaje Olaoluwa S. , Umoke Prince Ifeanachor Christian , Iweama Cylia N. , Ozoemena Eyuche L. 
Published: April 2020

Abstract
Background
Retirees face numerous challenges, including disassociation from persons in their social networks in Nigeria. Perceived social isolation or loneliness could impair the quality of life in old age, and lead to mental disorders. However, it is uncertain whether perceived loneliness has an independent association with depressive and anxiety symptoms and comorbid conditions in Nigerian retirees. Therefore, we aimed at examining the association between perceived loneliness, depressive and anxiety symptoms, including comorbid conditions among retirees in Northcentral Nigeria.

Methods
This community-based cross-sectional study enrolled retirees aged 60 years and above in different pension zones from February 2019 to August 2019. A two-stage sampling procedure was used to select the study participants. Data on perceived loneliness, depressive, and anxiety symptoms were collected using the 8-item University of California, Los Angeles Loneliness Scale (ULS-8), and the DASS 21-depression and anxiety subscales, respectively. We collected information on the demographic characteristics using a well-validated structured questionnaire. Descriptive statistics, binary and multivariable logistic regression were used to examine the independent associations between loneliness, depression, anxiety, and anxious depression. P-values below 0.05 were considered statistically significant.

Results
The mean age of participants was 71.3 (± 6.01) years, and 54.4% were men. The prevalence of loneliness, depression, anxiety, and anxious depression was 21.8, 52.0, 27.7, and 20.5%, respectively. Retirees with depression or anxiety symptoms perceived that they were lonelier than those without depression or anxiety. The multivariable logistic regression model showed that female gender (AOR 1.49; 95% CI (1.09, 2.00), having secondary education (AOR 2.24, 95% CI (1.40, 3.57) and having higher education (AOR 3.82, 95%CI (2.37, 6.16) were significantly associated with depression. Also, lonely retirees are 1.19 times (AOR 1.19; 95% CI (0.84, 1.69) more likely to be depressed compared to retirees that are not lonely, and the anxious depressed retirees are 314.58 times (AOR 314.58; 95% CI (508.05, 1941.70) more likely to be depressed than those without anxious depression.

Conclusion
The prevalence of loneliness, depression, anxiety, and anxious depression were relatively high among the older retirees. Female gender and advanced age were significantly associated with perceived loneliness, depression and anxiety.
Impaired circadian heart rate variability in Parkinson’s disease: a time-domain analysis in ambulatory setting
Authors: Arnao V. , Cinturino A. , Mastrilli S. , Buttà C. , Maida C. , Tuttolomondo A. , Aridon P. , D’Amelio M. 
Published: April 2020

Abstract
Background
Heart rate variability (HRV) decreases in Parkinson’s disease (PD) and it can be considered a marker for cardiovascular dysautonomia. The purpose of this pilot study is to evaluate long-term time-domain analysis of HRV of PD patients and compare the results with those of matched healthy individuals.

Methods
Idiopathic PD patients without comorbidity impairing HRV, and age-matched healthy individuals were recruited in a pilot study. A long-term time domain analysis of HRV using 24-h ambulatory ECG was performed.

Results
Overall, 18 PD patients fulfilling inclusion criteria completed the evaluation (mean age was 55.6 ± 8.8, disease duration: 5.0 ± 4.7). Mean SCOPA-AUT score was 10.1 ± 7.3. Patients were on Hoehn & Yahr stage 1–2 and mean Levodopa Equivalent Dose (LED) was 311 ± 239.9. Mean of the 5-min standard deviation (SD) of R-R intervals distribution (SDNN) for all 5 min segments of the entire recording (ISDNN) was significantly lower in patients compared to controls. ISDNN was significantly different between Parkinson’s disease patients and healthy controls.

Conclusions
In our population characterized by mild to moderate disease severity, time-domain assessment of HRV seemed to be a potential tool to characterize cardiovascular dysautonomia. Decrease of ISDNN in PD may reflect an autonomic derangement extending all day and night long.
Self-reported depression and social support are associated with egocentric network characteristics of HIV-infected women of color
Authors: Messer Lynne C. , Quinlivan E. Byrd , Adimora Adaora , Roytburd Katya 
Published: April 2020

AbstractBackgroundWe explore the social network characteristics associated with depressive symptoms and social support among HIV-infected women of color (WOC).MethodsNetwork data were collected from 87 HIV-infected WOC at an academic Infectious Disease clinic in the United States (US) south. With validated instruments, interviewers also asked about depressive symptoms, social support, and treatment-specific social support. Linear regression models resulted in beta coefficients and 95% confidence intervals for the relationships among network characteristics, depression, and support provision.ResultsFinancial support provision was associated with lower reported depressive symptoms while emotional support provision was associated with increased reported social support. Talking less than daily to the first person named in her network, the primary alter, was associated with a nearly 3-point decrease in reported social support for respondents. Having people in their social network who knew their HIV status was also important.ConclusionsWe found that both functional and structural social network characteristics contributed to perceptions of support by HIV-infected WOC.
When investigating depression and anxiety in undergraduate medical students timing of assessment is an important factor - a multicentre cross-sectional study
Authors: Thiemann Pia , Brimicombe James , Benson John , Quince Thelma 
Published: April 2020

Abstract
Background
Symptoms of depression and anxiety experienced by undergraduate medical students have become a prominent concern. Evidence about students’ depression and anxiety including prevalence, trajectory during medical education, gender differences and comparisons with age-matched peers is conflicting. However few studies of medical students’ mental health specify the precise time of assessment. Proximity to examinations may be relevant. Precise identification of the time of data collection might help explain contradictory findings and facilitate provision of more timely support.

Methods
This study addressed whether:
Proximity of final examinations affected students’ depression and anxiety symptomsMales and females differed in this respect.
We analysed data provided by 446 final year students from 6 UK medical schools. These students were a subset of data provided by 14 UK medical schools which participated in an online survey comparing first and final year students and in which final year response rates exceeded 30%. We used the Hospital Anxiety and Depression Scale to assess symptoms of depression and anxiety and the norms to indicate potentially clinically relevant cases. We grouped students into those for whom final exams were imminent i.e. within 2 months of completing the survey (n = 164) and those for whom exams were more distant or had been taken (n = 282). We used parametric and non-parametric tests to compare both groups and gender differences in respect of depression and anxiety sum scores and cases rates.

Results
For both depression and anxiety male and female students facing imminent final exams recorded greater prevalence and significantly higher mean scores. The effect size of differences for anxiety were large. No substantial gender differences were found for depression. Regardless of the timing of final exams female students recorded both significantly higher mean scores and clinically relevant rates for anxiety.

Conclusions
Proximity to final exams negatively affected the mental health of both male and female final year students. The study suggests that there may be times in the undergraduate medical curriculum when additional or targeted support is needed. It also highlights the need for research to provide a greater specificity of context when investigating medical students’ mental health.
Efficacy of quality improvement and patient safety workshops for students: a pilot study
Authors: Shah Kevin P. , Goyal Shreya , Ramachandran Vignesh , Kohn Jaden R. , Go Jonathan A. , Wiley Zachary , Moturu Anoosha , Namireddy Meera K. , Kumar Anjali , Jacobs Ryan C. , Stampfl Matthew , Shah Jesal R. , Fu Justin , Lin Weijie V. , Ho Brandon , Wey Grace , Lin Sophie Y. , Caruso Andrew C. , Gay Lindsey Jordan , Stewart Diana E. , Andrabi Sara 
Published: April 2020

Abstract
Background
While the Association of American Medical Colleges encourages medical schools to incorporate quality improvement and patient safety (QI/PS) into their curriculum, medical students continue to have limited QI/PS exposure. To prepare medical students for careers that involve QI/PS, the Institute for Healthcare Improvement chapter at an allopathic medical school and school of allied health professions initiated self-directed learning by offering student-led workshops to equip learners with skills to improve the quality and safety of healthcare processes.

Methods
In this prospective cohort study, workshops were hosted for medical students between 2015 and 2018 on five QI/PS topics: Process Mapping, Root-Cause Analysis (RCA), Plan-Do-Study-Act (PDSA) Cycles, Evidence Based Medicine (EBM), and Patient Handoffs. Each workshop included a hands-on component to engage learners in practical applications of QI/PS skills in their careers. Change in knowledge, attitudes, and behaviors was assessed via pre- and post-surveys using 5-point Likert scales, and analyzed using either the McNemar test or non-parametric Wilcoxon signed-rank test. Surveys also gathered qualitative feedback regarding strengths, future areas for improvement, and reasons for attending the workshops.

Results
Data was collected from 88.5% of learners (n = 185/209); 19.5% of learners reported prior formal instruction in these topics. Statistically significant improvements in learners’ confidence were observed for each workshop. Additionally, after attending workshops, learners felt comfortable teaching the learned QI/PS skill to colleagues (mean pre/post difference 1.96, p < 0.0001, n = 139) and were more likely to pursue QI/PS projects in their careers (mean pre/post difference 0.45, p < 0.0001, n = 139). Lastly, learners demonstrated a statistically significant increase in knowledge in four out of five skills workshop topics.

Conclusion
Few medical students have formal instruction in QI/PS tools. This pilot study highlights advantages of incorporating an innovative, student-directed modified ‘flipped classroom’ methodology, with a focus on active experiential learning and minimal didactic instruction.