bluuebunny/crossref_metadata_2025_split huggingface dataset:
Using a transcriptome sequencing approach to explore candidate resistance genes against stemphylium blight in the wild lentil species Lens ervoides
Authors: Cao Zhe , Li Li , Kapoor Karan , Banniza Sabine 
Published: September 2019

AbstractBackgroundStemphylium blight (SB), caused byStemphylium botryosum, is a devastating disease in lentil production. Although it is known that accessions ofLens ervoidespossess superior SB resistance at much higher frequency than the cultivated lentil species, very little is known about the molecular basis regulating SB resistance inL. ervoides. Therefore, a comprehensive molecular study of SB resistance inL. ervoideswas needed to exploit this wild resource available at genebanks for use by plant breeders in resistance breeding.ResultsMicroscopic and qPCR quantification of fungal growth revealed that 48, 96, and 144 h post-inoculation (hpi) were interesting time points for disease development inL. ervoidesrecombinant inbred lines (RILs) LR-66-637 (resistant to SB) and LR-66-577 (susceptible to SB). Results of transcriptome sequencing at 0, 48, 96 and 144 hpi showed that 8810 genes were disease-responsive genes after challenge byS. botryosum. Among them, 7526 genes displayed a similar expression trend in both RILs, and some of them were likely involved in non-host resistance. The remaining 1284 genes were differentially expressed genes (DEGs) between RILs. Of those, 712 DEGs upregulated in LR-66-637 were mostly enriched in ‘carbohydrate metabolic process’, ‘cell wall organization or biogenesis’, and ‘polysaccharide metabolic process’. In contrast, there were another 572 DEGs that were upregulated in LR-66-577, and some of them were enriched in ‘oxidation-reduction process’, ‘asparagine metabolic process’ and ‘asparagine biosynthetic process’. After comparing DEGs to genes identified in previously described quantitative trait loci (QTLs) for resistance to SB, nine genes were common and three of them showed differential gene expression between a resistant and a susceptible bulk consisting of five RILs each. Results showed that two genes encoding calcium-transporting ATPase and glutamate receptor3.2 were candidate resistance genes, whereas one gene with unknown function was a candidate susceptibility gene.ConclusionThis study provides new insights into the mechanisms of resistance and susceptibility inL. ervoidesRILs responding toS. botryosuminfection. Furthermore, we identified candidate resistance or susceptibility genes which warrant further gene function analyses, and which could be valuable for resistance breeding, if their role in resistance or susceptibility can be confirmed.
Graphical comparisons of relative disease burden across multiple risk factors
Authors: Ferguson John , O’Leary Neil , Maturo Fabrizio , Yusuf Salim , O’Donnell Martin 
Published: September 2019

Abstract

Background
Population attributable fractions (PAF) measure the proportion of disease prevalence that would be avoided in a hypothetical population, similar to the population of interest, but where a particular risk factor is eliminated. They are extensively used in epidemiology to quantify and compare disease burden due to various risk factors, and directly influence public policy regarding possible health interventions. In contrast to individual specific metrics such as relative risks and odds ratios, attributable fractions depend jointly on both risk factor prevalence and relative risk. The relative contributions of these two components is important, and usually needs to be presented in summary tables that are presented together with the attributable fraction calculation. However, representing PAF in an accessible graphical format, that captures both prevalence and relative risk, may assist interpretation.

Methods
Taylor-series approximations to PAF in terms of risk factor prevalence and log-odds ratio are derived that facilitate simultaneous representation of PAF, risk factor prevalence and risk-factor/disease log-odds ratios on a single co-ordinate axis. Methods are developed for binary, multi-category and continuous exposure variables.

Results
The methods are demonstrated using INTERSTROKE, a large international case control dataset focused on risk factors for stroke.

Conclusions
The described methods could be used as a complement to tables summarizing prevalence, odds ratios and PAF, and may convey the same information in a more intuitive and visually appealing manner. The suggested nomogram can also be used to visually estimate the effects of health interventions which only partially reduce risk factor prevalence. Finally, in the binary risk factor case, the approximations can also be used to quickly convert logistic regression coefficients for a risk factor into approximate PAFs.
Tinkering at the margins: evaluating the pace and direction of primary care reform in Ontario, Canada
Authors: Aggarwal Monica , Williams A. Paul 
Published: September 2019

AbstractBackgroundPrimary care reform has been on the political agenda in Canada and many industrialized countries for several decades; it is widely seen as the foundation for broader health system transformation. Federal investments in primary care, including major cash transfers to provinces and territories as part of a 10-year health care funding agreement in 2004, triggered waves of primary care reform across Canada. Nevertheless, Commonwealth Fund surveys show, Canada continues to lag behind other industrialized nations with respect to timely access to care, electronic medical record use and audit and feedback for quality improvement in primary care. This paper evaluates the pace and direction of primary care reform as well as the extent of resulting change in the organization and delivery of primary care in Ontario, Canada’s most populous province.MethodsQualitative and quantitative methods were used for this study. A literature review was conducted to analyze the core dimensions of primary care reform, the history of reform in Ontario, and the extent to which different dimensions are integrated into Ontario’s models. Quantitative data on the number of family physicians/general practitioners and patients enrolled in these models was examined over a 10-year period to determine the degree of change that has taken place in the organization and delivery of primary care in Ontario.ResultsThere are 11 core reform dimensions that individually and collectively shift from conventional primary care toward the more expansive vision of primary health care. Assessment of Ontario’s models against these core dimensions demonstrate that there has been little substantive change in the organization and delivery of primary care over 10 years in Ontario.ConclusionsPrimary care reform is a multi-dimensional construct with different reform models bundling core dimensions in different ways. This understanding is important to move beyond the rhetoric of “reform” and to critically assess the pace and direction of change in primary care in Ontario and in other jurisdictions. The conceptual framework developed in this paper can assist decision-makers, academics and health care providers in all jurisdictions in evaluating the pace of change in the primary care sector, as well as other sectors.
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Authors: Ngiwsara Lukana , Wattanasirichaigoon Duangrurdee , Tim-Aroon Thipwimol , Rojnueangnit Kitiwan , Noojaroen Saisuda , Khongkraparn Arthaporn , Sawangareetrakul Phannee , Ketudat-Cairns James R. , Charoenwattanasatien Ratana , Champattanachai Voraratt , Kuptanon Chulaluck , Pangkanon Suthipong , Svasti Jisnuson 
Published: September 2019

AbstractBackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in humanGAAgene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand.MethodsTwelve patients with infantile-onset Pompe disease (IOPD) including 10 Thai and two other Asian ethnicities were enrolled. To examine the molecular characteristics of Pompe patients,GAAgene was analyzed by PCR amplification and direct Sanger-sequencing of 20 exons coding region. The novel mutations were transiently transfected in COS-7 cells for functional verification. The severity of the mutation was rated by study of the GAA enzyme activity detected in transfected cells and culture media, as well as the quantity and quality of the proper sized GAA protein demonstrated by western blot analysis. The GAA three dimensional structures were visualized by PyMol software tool.ResultsAll patients had hypertrophic cardiomyopathy, generalized muscle weakness, and undetectable or < 1% of GAA normal activity. Three patients received enzyme replacement therapy with variable outcome depending on the age of the start of enzyme replacement therapy (ERT). Seventeen pathogenic mutations including four novel variants: c.876C > G (p.Tyr292X), c.1226insG (p.Asp409GlyfsX95), c.1538G > A (p.Asp513Gly), c.1895 T > G (p.Leu632Arg), and a previously reported rare allele of unknown significance: c.781G > A (p.Ala261Thr) were identified. The rating system ranked p.Tyr292X, p. Asp513Gly and p. Leu632Arg as class “B” and p. Ala261Thr as class “D” or “E”. These novel mutations were located in the N-terminal beta-sheet domain and the catalytic domain.ConclusionsThe present study provides useful information on the mutations ofGAAgene in the underrepresented population of Asia which are more diverse than previously described and showing the hotspots in exons 14 and 5, accounting for 62% of mutant alleles. Almost all mutations identified are in class A/B. These data can benefit rapid molecular diagnosis of IOPD and severity rating of the mutations can serve as a partial substitute for cross reactive immunological material (CRIM) study.
Maximal standard uptake values of 18F-fluoro-2-deoxy-D-glucose positron emission tomography compared with Epstein-Barr virus DNA as prognostic indicators in de novo metastatic nasopharyngeal carcinoma patients
Authors: Sun Xue-Song , Liang Yu-Jing , Liu Sai-Lan , Chen Qiu-Yan , Guo Shan-Shan , Wen Yue-Feng , Liu Li-Ting , Xie Hao-Jun , Tang Qing-Nan , Li Xiao-Yun , Yan Jin-Jie , Tang Lin-Quan , Mai Hai-Qiang 
Published: September 2019

Abstract

Background
This study aimed to evaluate the prognostic value of maximal standard uptake values (SUVmax) of 18F-fluoro-2-deoxy-D-glucose positron emission tomography (PET) comparing with Epstein-Barr virus (EBV) DNA levels in de novo metastatic nasopharyngeal carcinoma (NPC) patients.

Methods
From December 2006 to December 2016, 253 de novo metastatic NPC patients assessed by PET/ computed tomography were involved in current study. SUVmax-T, SUVmax-N, and SUVmax-M referred to the SUVmax at the primary tumor, cervical lymph nodes, and metastatic lesions respectively. Overall survival (OS) was the primary endpoint.

Result
Patients who died during the follow-up had significantly higher SUVmax-N, SUVmax-M, and EBV DNA level than those in the patients who were alive. SUVmax-N and SUVmax-M were positively correlated with EBV DNA level. The cut-off values of SUVmax-T, SUVmax-N, SUVmax-M, and EBV DNA were 17.0, 12.7, and 6.9, and 13,800 copies/mL respectively, which were determined by receiver operating characteristic (ROC) curve analysis. Patients with elevated SUVmax-N, SUVmax-M, and EBV DNA levels had a lower 3-year OS rate. In multivariate analysis, the independent prognostic factors of OS included EBV DNA, metastatic site, and locoregional radiotherapy application, while SUVmax was not an independent prognostic factor.

Conclusion
In de novo metastatic NPC patients, higher SUVmax-N and SUVmax-M were associated with worse prognosis. However, the predictive ability of SUVmax-N and SUVmax-M was poorer than that of EBV DNA.
Risk evaluation of splenic hilar or splenic artery lymph node metastasis and survival analysis for patients with proximal gastric cancer after curative gastrectomy: a retrospective study
Authors: Ding Peng , Gao Ziming , Zheng Chen , Chen Junqing , Li Kai , Gao Shan 
Published: September 2019

Abstract

Background
As splenectomy and spleen-preserving lymphadenectomy are performed only in some proximal gastric cancer patients, it is difficult to identify patients who have undergone radical gastrectomy with or without splenic hilar (No.10) or splenic artery (No.11) lymph node metastases. We aimed to determine the risk factors for No.10 and No.11 lymph node metastases and evaluate the survival significance of No.10 and No.11 lymph node dissection in advanced proximal gastric cancer patients.

Methods
A total of 873 advanced proximal gastric cancer patients who underwent curative gastrectomy with or without splenectomy or pancreaticosplenectomy were analyzed retrospectively. The clinicopathological characteristics of 152 patients who underwent splenectomy or pancreaticosplenectomy were analyzed to determine the risk factors for No.10 and No.11 lymph node metastases. The survival difference between patients with No.10 and No.11 lymph node dissections and those who did not undergo these dissections were compared.

Results
Patients with No.10 and No.11 lymph node metastases had very poor prognoses. Tumor invasion of the greater curvature and No.2 and No.4 lymph node metastases were independent risk factors for No.10 and No.11 lymph node metastases. No survival differences were evident between patients with No.10 and No.11 lymph node metastases who underwent No.10 and No.11 lymph node dissections and those who did not undergo these dissections but were at high risks of No.10 and No.11 lymph node metastases.

Conclusions
Splenic hilar or splenic artery lymph node dissection was not associated with increased survival, in proximal gastric cancer patients without direct cancer invasion of the spleen and pancreas, regardless of whether splenectomy, pancreaticosplenectomy, or spleen-preserving lymphadenectomy was performed.
Differential expression of N-linked oligosaccharides in methotrexate-resistant primary central nervous system lymphoma cells
Authors: Takashima Yasuo , Yoshimura Takeshi , Kano Yuichiro , Hayano Azusa , Hondoh Hiroaki , Ikenaka Kazuhiro , Yamanaka Ryuya 
Published: September 2019

AbstractBackgroundOligosaccharides of glycoprotein, particularly negatively-charged sialylatedN-glycans, on the surface of lymphomas play important roles in cell–cell interactions and bind immunoglobulin-like lectins, causing inflammatory responses and bioregulation. However, their characterizations have largely been unknown in central nervous system (CNS) lymphoma.MethodsHere, we investigated expression patterns ofN-linked oligosaccharides of glycoproteins in cells derived from CNS lymphomas and clinical specimens.ResultsWe first generated methotrexate (MTX)-resistant cells derived from HKBML and TK as CNS lymphoma, and RAJI as non-CNS lymphoma and determinedN-linked oligosaccharide structures in these cells and other non-CNS lymphoma-derived cells including A4/FUK, OYB, and HBL1. Major components of the total oligosaccharides were high-mannose typeN-glycans, whose level increased in MTX-resistant HKBML and TK but decreased in MTX-resistant RAJI. We also detected sialylated biantennary galactosylatedN-glycans with α1,6-fucosylation, A2G2F, and A2G2FB from HKBML, TK, and RAJI. Sialylated A4G4F was specifically isolated from RAJI. However, the ratios of these sialylatedN-glycans slightly decreased against MTX-resistant compared to non-resistant cells. Interestingly, almost all complex-type oligosaccharides were α2,6-sialylated.DiscussionThis is the first study for the expression profile ofN-oligosaccharides on MTX-resistant primary CNS lymphoma-derived cells HKBML and TK, and tumor tissues resected from patients with CNS lymphoma,ConclusionThese results propose a possibility that the differential expression of high-mannose types and sialylated A2G2F, A2G2FB, and A4G4F on the surface of CNS lymphomas may provide a hint for targets for diagnoses and treatments of the oligosaccharide type-specific lymphomas.
Ocular characteristics in a variant microcephalic primordial dwarfism type II
Authors: Chen Wan-Ju , Huang Fu-Chin , Shih Min-Hsiu 
Published: September 2019

Abstract

Background
Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) is a rare disease that is assumed to be caused by a pericentrin (PCNT) gene mutation. Clinical manifestations have been reported in pediatrics and neurology; however, only a few ocular findings have been documented.

Case presentation
We present three unrelated cases of MOPD II with similar facial features and short stature. Unlike the cases described in the literature, all subjects had normal birth weight and height but their growth was retarded thereafter. In addition to delayed milestones, they have a broad forehead, maxillary protrusion, long peaked nose, high nasal bridge, low-set large ears, extreme reromicrogenia, and normal-sized teeth. These three patients had similar ocular manifestations with the short axial length associated with high hyperopia more than + 9 diopters (D) and macular scarring. The oldest subject was a 20 year-old male without neurological symptoms. One female subject had developed alopecia during the previous 2 years. The other female subject had moyamoya disease, but a genetic study revealed a normal PCNT gene.

Conclusion
This is the first report of MOPD II focusing on ocular findings, suggesting that macular dystrophy and high hyperopia are the common ocular characteristics of MOPD II. Prompt referral to an ophthalmologist is essential. Although refractive amblyopia can be treated with optical correction, visual prognosis may be poor due to maculopathy.
Foundational knowledge regarding childhood obesity: a cross-sectional study of medical students
Authors: Guseman Emily Hill , Beverly Elizabeth A. , Whipps Jonathon , Mort Sophia 
Published: September 2019

Abstract

Background
Documentation and diagnosis of childhood obesity in primary care is poor and providers are often unfamiliar with guidelines. This lack of knowledge may be attributed to insufficient training in medical school and residency; however, no studies have evaluated medical students’ knowledge of recommendations.

Methods
We distributed a modified version of the Physician Survey of Practice on Diet, Physical Activity, and Weight Control to medical students at a single university. Descriptive analyses assessed knowledge and attitudes of childhood obesity and diabetes.

Results
Of the 213 participating students, 74% indicated being unfamiliar with obesity screening recommendations. Few correctly identified BMI percentile cut-points for child overweight (21.2%), obesity (23.7%), and normal weight (29.4%). They reported screening glucose 4.5 years earlier in patients with risk factors compared to those without (p < 0.001).

Conclusions
Although students recognized the need for earlier diabetes screening in children with risk factors, we determined that overall, student knowledge of obesity-related preventative care was inadequate.
Costs and benefits of bevacizumab vial sharing for the treatment of retinal diseases
Authors: Sodré Sávio Lima , Barbosa Italo Antunes França , Pacheco Israel Emiliano , Ferreira Felipe de Queiroz Tavares , David Milton Agrizzi , Nascimento Mauricio Abujamra , Arieta Carlos Eduardo Leite , Vasconcellos Jose Paulo Cabral de 
Published: September 2019

Abstract

Background
Antiangiogenic therapy has proved to be an important therapeutic tool for many retinal vascular diseases; however, its availability is limited in developing countries. This study sought to describe the bevacizumab vial sharing process and to evaluate the impact of this repackaging system on the costs incurred in a Brazilian public hospital.

Method
This retrospective study compared the number and costs of intravitreal antiangiogenic injections approved via court order in the first year of the study (2015) to the number and costs of the bevacizumab injections provided through the use of vial sharing in the second year of the study (2016).
Vial sharing consists of the traditional process used to repackage bevacizumab; in this case, however, the drug samples used were the residual volume from the preparation of bevacizumab for oncology patients. The hospital adhered to the guidelines established by the Brazilian Health Surveillance Agency (ANVISA).

Results
In the first year of the study and using medication obtained through court orders, 550 intravitreal injections were performed in the ophthalmology ambulatory care center. Based on local pricing tables, the total cost of the medication was BRL$1,036,056.25 (USD$267,546.58), and the average cost of each application was BRL$1883.74 (USD$486.45).
In the second year of the study, 1081 intravitreal applications were performed at the same hospital using doses obtained through bevacizumab vial sharing. The total cost was BRL$21,942.49 (USD$5663.30) and the per-unit cost was BRL$20.30, or USD$5.23 (a savings of 97.88%).

Conclusion
This study found that bevacizumab vial sharing led to a significant reduction in public health care costs associated with antiangiogenic treatment and increased the availability of the drug to public health care patients. These results can be extrapolated to other types of drugs and health care systems.
Holding the keys to health? A scoping study of the population health impacts of automated vehicles
Authors: Dean Jennifer , Wray Alexander J. , Braun Lucas , Casello Jeffrey M. , McCallum Lindsay , Gower Stephanie 
Published: September 2019

AbstractBackgroundAutomated Vehicles (AVs) are central to the new mobility paradigm that promises to transform transportation systems and cities across the globe. To date, much of the research on AVs has focused on technological advancements with little emphasis on how this emerging technology will impact population-level health. This scoping study examines the potential health impacts of AVs based on the existing literature.MethodsUsing Arksey and O’Malley’s scoping protocol, we searched academic and ‘grey’ literature to anticipate the effects of AVs on human health.ResultsOur search captured 43 information sources that discussed a least one of the five thematic areas related to health. The bulk of the evidence is related to road safety (n = 37), followed by a relatively equal distribution between social equity (n = 24), environment (n = 22), lifestyle (n = 20), and built environment (n = 18) themes. There is general agreement that AVs will improve road safety overall, thus reducing injuries and fatalities from human errors in operating motorized vehicles. However, the relationships with air quality, physical activity, and stress, among other health factors may be more complex. The broader health implications of AVs will be dependent on how the technology is adopted in various transportation systems. Regulatory action will be a significant determinant of how AVs could affect health, as well as how AVs influence social and environmental determinants of health.ConclusionTo support researchers and practitioners considering the health implications of AVs, we provide a conceptual map of the direct and indirect linkages between AV use and health outcomes. It is important that stakeholders, including public health agencies work to ensure that population health outcomes and equitable distribution of health impacts are priority considerations as regulators develop their response to AVs. We recommend that public health and transportation officials actively monitor trends in AV introduction and adoption, regulators focus on protecting human health and safety in AV implementation, and researchers work to expand the body of evidence surrounding AVs and population health.