scholarly journals Visualizing the phenotype diversity: a case study of Alexander disease

2021 ◽  
Vol 19 (3) ◽  
pp. e28
Author(s):  
Eisuke Dohi ◽  
Ali Haider Bangash

Since only a small number of patients have a rare disease, it is difficult to identify all of the features of these diseases. This is especially true for patients presenting with the rarest diseases. It can also be difficult for the patient, their families, and even clinicians to know which one of a number of disease phenotypes the patient is exhibiting. This, again, is especially true for patients uncommonly presenting with rare diseases. To address this issue, during Biomedical Linked Annotation Hackathon 7 (BLAH7), we tried to extract Alexander disease patient data in Portable Document Format. We then visualized the phenotypic diversity of those Alexander disease patients with uncommon presentations. This led to us identifying several issues that we need to overcome in our future work.

2014 ◽  
Vol 9 (2) ◽  
pp. 123-138 ◽  
Author(s):  
Tim N. L. Evans ◽  
Ray H. Moore

In recent years the Portable Document Format (PDF) has become a ubiquitous format in the exchange of documents; in 2005 the PDF/A profile was defined in order to meet long term accessibility needs, and has accordingly come to be regarded as a long-term archiving strategy for PDF files. In the field of archaeology, a growing number of PDF files – containing the detailed results of fieldwork and research – are beginning to be deposited with digital archives such as the Archaeology Data Service (ADS). In the ADS’ experience, the use of PDF/A has had benefits as well as drawbacks: the majority of PDF reports are now in a standard format better suited to longer-term access, however migrating to PDF/A and managing and ensuring reuse of these files is intensive, and fraught with potential pitfalls. Of these, perhaps the most serious has been an unreliability in PDF/A conformance by the wide range of tools and software now available. There are also practical and more theoretical implications for reuse which, as our discipline of archaeology alongside so many others rapidly becomes digitized, presents us with a large corpus of ‘data’ that is human readable, but may not be amenable to machine-based technologies such as NLP. It may be argued that these factors effectively undermine some of the perceived cost benefit of moving from paper to digital, as well as the longer-term sustainability of PDF/A within digital archives.


2021 ◽  
Vol 13 (6) ◽  
pp. 3553
Author(s):  
Philippe Nimmegeers ◽  
Alexej Parchomenko ◽  
Paul De Meulenaere ◽  
Dagmar R. D’hooge ◽  
Paul H. M. Van Steenberge ◽  
...  

Multilevel statistical entropy analysis (SEA) is a method that has been recently proposed to evaluate circular economy strategies on the material, component and product levels to identify critical stages of resource and functionality losses. However, the comparison of technological alternatives may be difficult, and equal entropies do not necessarily correspond with equal recyclability. A coupling with energy consumption aspects is strongly recommended but largely lacking. The aim of this paper is to improve the multilevel SEA method to reliably assess the recyclability of plastics. Therefore, the multilevel SEA method is first applied to a conceptual case study of a fictitious bag filled with plastics, and the possibilities and limitations of the method are highlighted. Subsequently, it is proposed to extend the method with the computation of the relative decomposition energies of components and products. Finally, two recyclability metrics are proposed. A plastic waste collection bag filled with plastic bottles is used as a case study to illustrate the potential of the developed extended multilevel SEA method. The proposed extension allows us to estimate the recyclability of plastics. In future work, this method will be refined and other potential extensions will be studied together with applications to real-life plastic products and plastic waste streams.


2021 ◽  
pp. 43-47
Author(s):  
Veenit Kumar Prasad ◽  
Bapilal Bala ◽  
Biswadev Basumazumder ◽  
Achintya Narayan Ray

INTRODUCTION: Alcoholic liver disease is one of the major causes of premature deaths worldwide. Alcohol induced liver injury is the most prevalent cause of liver disease and effects 10% to 20% of population worldwide. Alcoholic liver disease comprises a wide spectrum of pathological changes ranging from steatosis, alcoholicsteato-hepatitis, Cirrhosis and nally hepatocellular carcinoma. Our aims in this study are to detect this change by non invasive method by liver broscan and its clinical implications. MATERIALS AND METHODS: Total 200 patients were taken for observational study, conducted at Coochbehar Government Medical college and hospital both outpatient department and indoor patients from May 2019 to January 2020. Liver stiffness was assessed by ultrasound based method of transient elastography using Fibroscan machine. Gradation of liver stiffness was expressed in kilopascals (KPa). RESULTS: Maximum number of patients of alcoholic liver disease were between 40 - 49 years of age (42.5%). Male patients is 87.5% and female patients 12.5%. distribution of Rural population is 36 % and Urban population is 64%. Majority of population85 patients (42.5%) had fatty liver and 40 patients (20%) have hepatomegaly, 41 patients (20.5%) had Coarse echotexture of liver parenchyma and 54 patients (27%) had Splenomegaly, 62 patients (31%) had Nodular liver and 62 patients. It is observed that 11 patients (5.5%) had Fibroscan score ≤7.5 and 47 patients (23.5%) had broscan score 7.6 -9.9 and 40 patients (20%) had broscan score 10-12.4, 36 patients (18 %) had broscan score 12.5 – 14.6 and 66 patients (33%) have broscan score ≥ 14.7. CONCLUSIONS: Transient Elastography (TE) is a newer non invasive assessment technique to detect the progression of brosis or brosis in alcoholic liver disease patient. Major advantage is it is noninvasive (costeffective) so that we can early detect progression of this cirrhosis and can give efforts to halt the disease progression.


2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Julia Caffrey-Hill ◽  
Nathan Clark ◽  
Brent Davis ◽  
William Helman

The Portable Document Format (PDF) is one of the most common document file types in academia, both in the library and the classroom. Unfortunately, PDF poses unique barriers to accessibility, particularly for the visually impaired. Ensuring that all people can read PDF content can be complex and expensive. There are alternative formats that can be made accessible with a lower level of effort, providing a better experience for both the end reader and the document author. This article serves as a call to arms for higher education to migrate away from PDF and to urge the tech community to develop new file formats that lend themselves to enhanced accessibility on a limited budget.


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