scholarly journals Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Renata S. Scalco ◽  
◽  
Alejandro Lucia ◽  
Alfredo Santalla ◽  
Andrea Martinuzzi ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Normal Serum ◽  
Coronary Artery Diseases ◽  
Preventive Screening ◽  
Mcardle Disease ◽  
Background Population ◽  
The Us ◽  
Phenotypic Features ◽  
Insight Into ◽  
European Registry

Abstract Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.

When is the ‘optimal’ time for school transition? An insight into provision in the US

2021 ◽  
pp. 1-29
Author(s):  
Charlotte Louise Bagnall ◽  
Claire Louise Fox ◽  
Yvonne Skipper
Keyword(s):  
School Transition ◽  
Optimal Time ◽  
The Us ◽  
Insight Into

scholarly journals Gene Expression and Carcass Traits Are Different between Different Quality Grade Groups in Red-Faced Hereford Steers

Animals ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1910
Author(s):  
Bailey Engle ◽  
Molly Masters ◽  
Jane Ann Boles ◽  
Jennifer Thomson
Keyword(s):  
Gene Expression ◽  
Transcriptome Profiling ◽  
Fat Deposition ◽  
Lower Shear ◽  
The Us ◽  
Quality Grade ◽  
Longissimus Lumborum ◽  
Muscle Biochemistry ◽  
Marbling Deposition ◽  
Insight Into

Fat deposition is important to carcass value and some palatability characteristics. Carcasses with higher USDA quality grades produce more value for producers and processors in the US system and are more likely to have greater eating satisfaction. Using genomics to identify genes impacting marbling deposition provides insight into muscle biochemistry that may lead to ways to better predict fat deposition, especially marbling and thus quality grade. Hereford steers (16) were managed the same from birth through harvest after 270 days on feed. Samples were obtained for tenderness and transcriptome profiling. As expected, steaks from Choice carcasses had a lower shear force value than steaks from Select carcasses; however, steaks from Standard carcasses were not different from steaks from Choice carcasses. A significant number of differentially expressed (DE) genes was observed in the longissimus lumborum between Choice and Standard carcass RNA pools (1257 genes, p < 0.05), but not many DE genes were observed between Choice and Select RNA pools. Exploratory analysis of global muscle tissue transcriptome from Standard and Choice carcasses provided insight into muscle biochemistry, specifically the upregulation of extracellular matrix development and focal adhesion pathways and the downregulation of RNA processing and metabolism in Choice versus Standard. Additional research is needed to explore the function and timing of gene expression changes.

scholarly journals Neutralizing antibodies against SARS-CoV-2: current understanding, challenge and perspective

2020 ◽  
Vol 3 (4) ◽  
pp. 285-299
Author(s):  
Yang Huang ◽  
Hui Sun ◽  
Hai Yu ◽  
Shaowei Li ◽  
Qingbing Zheng ◽  
...  
Keyword(s):  
Neutralizing Antibodies ◽  
Therapeutic Potential ◽  
Therapeutic Interventions ◽  
Viral Escape ◽  
Global Burden ◽  
Health Crisis ◽  
The Us ◽  
Preclinical And Clinical Studies ◽  
Insight Into ◽  
Rapid Emergence

Abstract The rapid emergence of Coronavirus disease-2019 (COVID-19) caused by severe acute respiratory syndrome 2 coronavirus (SARS-CoV-2) as a pandemic that presents an urgent human health crisis. Many SARS-CoV-2 neutralizing antibodies (NAbs) were developed with efficient therapeutic potential. NAbs-based therapeutics against SARS-CoV-2 are being expedited to preclinical and clinical studies with two antibody drugs, LY3819253 (LY-CoV555) and REGN-COV2 (REGN10933 and REGN10987), approved by the US Food and Drug Administration for emergency use authorization for treating COVID-19. In this review, we provide a systemic overview of SARS-CoV-2 specific or cross-reactive NAbs and discuss their structures, functions and neutralization mechanisms. We provide insight into how these NAbs specific recognize the spike protein of SARS-CoV-2 or cross-react to other CoVs. We also summarize the challenges of NAbs therapeutics such as antibody-dependent enhancement and viral escape mutations. Such evidence is urgently needed to the development of antibody therapeutic interventions that are likely required to reduce the global burden of COVID-19.

Are the currently used reference intervals for creatine kinase (CK) reflecting the general population? The Tromsø Study

2012 ◽  
Vol 50 (5) ◽  
Author(s):  
Hallvard Lilleng ◽  
Stein Harald Johnsen ◽  
Tom Wilsgaard ◽  
Svein Ivar Bekkelund
Keyword(s):  
Creatine Kinase ◽  
General Population ◽  
Reference Interval ◽  
Reference Intervals ◽  
Control Analysis ◽  
Age Group ◽  
Background Population ◽  
Norwegian Population ◽  
Reference Limits ◽  
Laboratory Reference

AbstractLaboratory reference intervals are not necessarily reflecting the range in the background population. This study compared creatine kinase (CK) reference intervals calculated from a large sample from a Norwegian population with those elaborated by the Nordic Reference Interval Project (NORIP). It also assessed the pattern of CK-normalization after standardized control analyses.New upper reference limits (URL) CK values were calculated after exclusion of individuals with risk of hyperCKemia and including individuals with incidentally detected hyperCKemia after they had completed a standardized control analysis. After exclusion of 5924 individuals with possible causes of hyperCKemia, CK samples were analyzed in 6904 individuals participating in the 6th survey of The Tromsø Study. URL was defined as the 97.5 percentile.New URL in women was 207 U/L. In men <50 years it was 395 U/L and in men ≥50 years 340 U/L. In individuals with elevated CK, normalization grade after control analysis was inversely correlated to the CK level (p<0.04).URL CK values in women and in men <50 years of age were in accordance with URL CK values given by the NORIP. In men ≥50 years, a higher URL was found and the findings suggest an upward adjustment of URL in this age group.

A comparative study of RFID adoption patterns in retail

2021 ◽  
pp. 1-20
Author(s):  
Narges Kasiri ◽  
G. Scott Erickson ◽  
Gerd Wolfram
Keyword(s):  
Comparative Study ◽  
Radio Frequency ◽  
Radio Frequency Identification ◽  
Structural Model ◽  
Slow Pace ◽  
The Us ◽  
Frequency Identification ◽  
Insight Into ◽  
Current Stage ◽  
Over Time

Radio frequency identification (RFID) has been viewed as a promising technology for quite some time. Initially developed a couple of decades ago, the technology has been accompanied by predictions of imminent widespread adoption since its beginnings. A majority of retailers and other users are now using or planning to use the technology. This paper employs a combination of the technology-organization-environment (TOE) model and the 3-S (substitution, scale, structural) model to analyze the long journey of RFID adoption in retail. Top retail executives in the US and Europe were interviewed to investigate RFID adoption patterns based on differences in technological, organizational, and environmental circumstances. As the retail industry is moving into a post-adoption era, these results demonstrate the current stage of retail RFID adoption, identify factors playing important roles over time as motivators or impediments, and provide some insight into the slow pace of adoption.

Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease

2018 ◽  
Vol 120 (2) ◽  
pp. 303-311 ◽  
Author(s):  
Paulo José Lorenzoni ◽  
Lineu Cesar Werneck ◽  
Cláudia Suemi Kamoi Kay ◽  
Raquel Cristina Arndt ◽  
Carlos E. S. Silvado ◽  
...  
Keyword(s):  
Single Centre ◽  
Mcardle Disease ◽  
Single Centre Experience ◽  
Phenotypic Features

Infantile polymyositis with normal serum creatine kinase level

1997 ◽  
Vol 19 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Sarenur Tütüncüogˇlu ◽  
Hasan Tekgül ◽  
Eren Demirtas¸ ◽  
Seval Uysal
Keyword(s):  
Creatine Kinase ◽  
Creatine Kinase Level ◽  
Normal Serum ◽  
Serum Creatine Kinase ◽  
Serum Creatine Kinase Level

scholarly journals Extensive Horizontal Gene Transfer in Cheese-Associated Bacteria

2016 ◽  
Author(s):  
Kevin S. Bonham ◽  
Benjamin E. Wolfe ◽  
Rachel J. Dutton
Keyword(s):  
Gene Transfer ◽  
Horizontal Gene Transfer ◽  
Molecular Mechanisms ◽  
Protein Coding ◽  
Associated Bacteria ◽  
The Us ◽  
Selective Forces ◽  
Genomic Regions ◽  
Microbiome Assembly ◽  
Insight Into

AbstractAcquisition of genes through horizontal gene transfer (HGT) allows microbes to rapidly gain new capabilities and adapt to new or changing environments. Identifying widespread HGT regions within multispecies microbiomes can pinpoint the molecular mechanisms that play key roles in microbiome assembly. We sought to identify horizontally transferred genes within a model microbiome, the cheese rind. Comparing 31 newly-sequenced and 134 previously sequenced bacterial isolates from cheese rinds, we identified over 200 putative horizontally transferred genomic regions containing 4,733 protein coding genes. The largest of these regions are enriched for genes involved in siderophore acquisition, and are widely distributed in cheese rinds in both Europe and the US. These results suggest that horizontal gene transfer (HGT) is prevalent in cheese rind microbiomes, and the identification of genes that are frequently transferred in a particular environment may provide insight into the selective forces shaping microbial communities.

Application of molecular techniques to studies in Rhizobium ecology: a review

2001 ◽  
Vol 41 (3) ◽  
pp. 299 ◽  
Author(s):  
J. E. Thies ◽  
E. M. Holmes ◽  
A. Vachot
Keyword(s):  
Root Nodule ◽  
Molecular Techniques ◽  
Nodule Bacteria ◽  
Bacterial Genomes ◽  
Root Nodule Bacteria ◽  
Bacterial Signaling ◽  
Field Environment ◽  
Background Population ◽  
Insight Into ◽  
Made In

The symbiosis between legumes and their specific root-nodule bacteria, rhizobia, has been employed to improve agricultural productivity for most of the 20th century. During this time, great advances have been made in our knowledge of both plant and bacterial genomes, the biochemistry of the symbiosis, plant and bacterial signaling and the measurement of nitrogen fixation. However, knowledge of the ecology of the bacterial symbiont has lagged behind, largely due to a lack of practical techniques that can be used to monitor and assess the performance of these bacteria in the field. Most techniques developed in the last few decades have relied on somehow ‘marking’ individual strains to allow us to follow their fate in the field environment. Such techniques, while providing knowledge of the success or failure of specific strains in a range of environments, have not allowed insight into the nature of the pre-existing rhizobial populations in these sites, nor the interaction between marked strains and the background population. The advent of molecular techniques has revolutionised the study of Rhizobium ecology by allowing us to follow the flux of a variety of ecotypes within a particular site and to examine how introduced rhizobia interact with a genetically diverse background. In addition, molecular techniques have increased our understanding of how individual strains and populations of root-nodule bacteria respond to changes in the environment and how genetic diversity evolves in field sites over time. This review focuses on recently developed molecular techniques that hold promise for continuing to develop our understanding of Rhizobium ecology and how these can be used to address a range of applied problems to yield new insights into rhizobial life in soil and as legume symbionts.

The image of the library through the eyes of immigrant and migrant readers

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Keren Dali
Keyword(s):  
Design Methodology ◽  
Immigrant Communities ◽  
Content Type ◽  
Migrant Communities ◽  
Spanish Speaking ◽  
Cultural Image ◽  
Functional Image ◽  
Library Users ◽  
The Us ◽  
Insight Into

PurposeDrawing on the survey of Spanish-speaking immigrant and migrant readers in Canada and the US, this study pursues three goals: (1) examine the image of the library held by these readers and trace the change of this image after the international migration; (2) use the study findings to revise and update the currently existing typologies of the image of the library; and (3) understand ethical and effective research practices in the studies of immigrant/migrant communities whereby researchers are external to communities in question.Design/methodology/approachThe data about immigrant/migrant readers were collected through a self-administered survey questionnaire that was available both in print and electronically, both in Spanish and English. The data analysis was guided by hermeneutic phenomenology, as explicated in the article. Theoretical examination of the image of the library relied on the earlier typology developed by V. Stelmakh.FindingsThe study elucidates perceptions of libraries and librarians in both North America and countries of origin held by Spanish-speaking immigrant/migrant readers, and highlights changes that occur in the image of the library as readers move across geographic borders. Building on the empirical data, the article develops a new typology of the image of the library. It also offers insight into ethical and effective ways of engaging with immigrant communities that should be upheld by researchers from outside the communities in question.Originality/valueIt is the first known study that systematically traces the changes in the image of the library which occur alongside geographic and sociocultural migrations. It is also the first known study that focuses specifically on readers rather than library users in general. The new typology consists of four different elements – the cultural image; the functional image; the humanistic image; and the ideological image of the library – and is accompanied by detailed definitions of each.

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