scholarly journals Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1885
Author(s):  
Francesca Cristofoli ◽  
Elisa Sorrentino ◽  
Giulia Guerri ◽  
Roberta Miotto ◽  
Roberta Romanelli ◽  
...  
Keyword(s):  
Medical Genetics ◽  
Patient Specific ◽  
Specific Information ◽  
Variant Selection ◽  
Variant Classification ◽  
Variant Interpretation ◽  
Bioinformatics Pipeline ◽  
Different Levels ◽  
Diagnostic Setting

Variant interpretation is challenging as it involves combining different levels of evidence in order to evaluate the role of a specific variant in the context of a patient’s disease. Many in-depth refinements followed the original 2015 American College of Medical Genetics (ACMG) guidelines to overcome subjective interpretation of criteria and classification inconsistencies. Here, we developed an ACMG-based classifier that retrieves information for variant interpretation from the VarSome Stable-API environment and allows molecular geneticists involved in clinical reporting to introduce the necessary changes to criterion strength and to add or exclude criteria assigned automatically, ultimately leading to the final variant classification. We also developed a modified ACMG checklist to assist molecular geneticists in adjusting criterion strength and in adding literature-retrieved or patient-specific information, when available. The proposed classifier is an example of integration of automation and human expertise in variant curation, while maintaining the laboratory analytical workflow and the established bioinformatics pipeline.

scholarly journals Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Hannah Gelman ◽  
◽  
Jennifer N. Dines ◽  
Jonathan Berg ◽  
Alice H. Berger ◽  
...  
Keyword(s):  
Functional Data ◽  
Clinical Utility ◽  
Medical Genetics ◽  
Variant Interpretation ◽  
Variants Of Uncertain Significance ◽  
Uncertain Significance ◽  
Genetics And Genomics ◽  
New Guidelines

AbstractVariants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby increasing the clinical utility of genomic testing. Existing standards from the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) and new guidelines from the Clinical Genome Resource (ClinGen) establish the role of functional data in variant interpretation, but do not address the specific challenges or advantages of using functional data derived from multiplexed assays. Here, we build on these existing guidelines to provide recommendations to experimentalists for the production and reporting of multiplexed functional data and to clinicians for the evaluation and use of such data. By following these recommendations, experimentalists can produce transparent, complete, and well-validated datasets that are primed for clinical uptake. Our recommendations to clinicians and diagnostic labs on how to evaluate the quality of multiplexed functional datasets, and how different datasets could be incorporated into the ACMG/AMP variant-interpretation framework, will hopefully clarify whether and how such data should be used. The recommendations that we provide are designed to enhance the quality and utility of multiplexed functional data, and to promote their judicious use.

Is there empirical evidence for the dynamic nature of communication systems?: The role of synchronization and inferential communication

2002 ◽  
Vol 25 (5) ◽  
pp. 625-626
Author(s):  
Karl Grammer
Keyword(s):  
Empirical Evidence ◽  
Communication Systems ◽  
Specific Information ◽  
Dynamic Nature ◽  
Internal States ◽  
Different Levels

Communication is a multichannel, multiunit process that works on different levels. It is sequential with specific information carriers on a cognitive accessible level, and dynamic for the regulation of relationships at the same time. One function of communication is the broadcasting of internal states that can be assessed by inferential communication.

scholarly journals Differential Microwave Imaging for Brain Stroke Followup

2014 ◽  
Vol 2014 ◽  
pp. 1-11 ◽  
Author(s):  
R. Scapaticci ◽  
O. M. Bucci ◽  
I. Catapano ◽  
L. Crocco
Keyword(s):  
Low Cost ◽  
Synthetic Data ◽  
Measurement Procedure ◽  
Microwave Imaging ◽  
Patient Specific ◽  
Specific Information ◽  
Anthropomorphic Phantoms ◽  
Brain Stroke

This paper deals with the possibility of adopting microwave imaging to continuously monitor a patient after the onset of a brain stroke, with the aim to follow the evolution of the disease, promptly counteract its uncontrolled growth, and possibly support decisions in the clinical treatment. In such a framework, the assessed techniques for brain stroke diagnosis are indeed not suitable to pursue this goal. Conversely, microwave imaging can provide a diagnostic tool able to follow up the disease’s evolution, while relying on a relatively low cost and portable apparatus. The proposed imaging procedure is based on a differential approach which requires the processing of scattered field data measured at different time instants. By means of a numerical analysis dealing with synthetic data generated for realistic anthropomorphic phantoms, we address some crucial issues for the method’s effectiveness. In particular, we discuss the role of patient-specific information and the effect of inaccuracies in the measurement procedure, such as an incorrect positioning of the probes between two different examinations. The observed results show that the proposed technique is indeed feasible, even when a simple, nonspecific model of the head is exploited and is robust against the above mentioned inaccuracies.

Tailoring Communications for Primary Care Settings

1998 ◽  
Vol 37 (02) ◽  
pp. 171-178 ◽  
Author(s):  
B. Glassman ◽  
B. K. Rimer
Keyword(s):  
Primary Care ◽  
Health Professionals ◽  
Contact Time ◽  
Behavioral Changes ◽  
Patient Specific ◽  
Specific Information ◽  
Medical Settings ◽  
Primary Care Settings ◽  
Professional Contact ◽  
Tailored Communications

AbstractIn more and more medical settings, physicians have less and less time to be effective communicators. To be effective, they need accurate, current information about their patients. Tailored health communications can facilitate positive patient-provider communications and foster behavioral changes conducive to health. Tailored communications (TCs) are produced for an individual based on information about that person. The focus of this report is on tailored print communications (TPCs). TPCs also enhance the process of evaluation, because they require a database and the collection of patient-specific information. We present a Tailoring Model for Primary Care that describes the steps involved in creating TPCs. We also provide examples from three ongoing studies in which TPCs are being used in order to illustrate the kinds of variables used for tailoring the products that are developed and how evaluation is conducted. TPCs offer opportunities to expand the reach of health professionals and to give personalized, individualized massages in an era of shrinking professional contact time.

Value-driven issues throughout the development of sociological theory

2020 ◽  
pp. 147-160
Author(s):  
Gulbarshyn Chepurko ◽  
Valerii Pylypenko
Keyword(s):  
Social Interactions ◽  
Social System ◽  
Sociological Theory ◽  
Social Scientists ◽  
Social Sphere ◽  
Technological Advances ◽  
The Social ◽  
The Individual ◽  
Different Levels

The paper examines and compares how the major sociological theories treat axiological issues. Value-driven topics are analysed in view of their relevance to society in times of crisis, when both societal life and the very structure of society undergo dramatic change. Nowadays, social scientists around the world are also witnessing such a change due to the emergence of alternative schools of sociological thought (non-classical, interpretive, postmodern, etc.) and, subsequently, the necessity to revise the paradigms that have been existed in sociology so far. Since the above-mentioned approaches are often used to address value-related issues, building a solid theoretical framework for these studies takes on considerable significance. Furthermore, the paradigm revision has been prompted by technological advances changing all areas of people’s lives, especially social interactions. The global human community, integral in nature, is being formed, and production of human values now matters more than production of things; hence the “expansion” of value-focused perspectives in contemporary sociology. The authors give special attention to collectivities which are higher-order units of the social system. These units are described as well-organised action systems where each individual performs his/her specific role. Just as the role of an individual is distinct from that of the collectivity (because the individual and the collectivity are different as units), so too a distinction is drawn between the value and the norm — because they represent different levels of social relationships. Values are the main connecting element between the society’s cultural system and the social sphere while norms, for the most part, belong to the social system. Values serve primarily to maintain the pattern according to which the society is functioning at a given time; norms are essential to social integration. Apart from being the means of regulating social processes and relationships, norms embody the “principles” that can be applied beyond a particular social system. The authors underline that it is important for Ukrainian sociology to keep abreast of the latest developments in the field of axiology and make good use of those ideas because this is a prerequisite for its successful integration into the global sociological community.

Communication in medical genetics and patient autonomy

2020 ◽  
pp. 17-18
Author(s):  
С.В. Шевченко ◽  
С.В. Лаврентьева
Keyword(s):  
Patient Autonomy ◽  
Medical Genetics ◽  
Legal Problems

В свете коммуникативных особенностей медико-генетической консультации рассматривается два типа этико-правовых проблем, касающихся автономии пациента. Показана роль первичной консультации в их решении. In this paper we considered two types of ethical and legal problems regarding patient autonomy in perspective of the communicative features of the medical genetics. Also, this paper shows the role of the primary consultation in solution of this problems.

РЕГІОНАЛЬНИЙ МИТЕЦЬ В ІНОКУЛЬТУРНОМУ СЕРЕДОВИЩІ: ПРОБЛЕМА ФУНКЦІОНУВАННЯ

2020 ◽  
pp. 152-158
Author(s):  
Admink Admink ◽  
Сергій Виткалов ◽  
Валентина Вігула
Keyword(s):  
Local Government ◽  
Cultural Practices ◽  
Local Population ◽  
Government Reform ◽  
Different Levels

Розглядається організаційно-культурна діяльність одного з помітних у регіональному просторі Західного Полісся фотомитця – Олександра Купчинського, а саме виставковий її вектор, втілений в презентації артефактів світового фотомистецтва; видавничий, розглянутий у  контексті  друку  різноманітних  фотоальбомів  із  творів експонентів, організація творчих зустрічей художньої інтелігенції міста з питань обговорення актуальних питань культурного розвитку, заснування фотоклубу тощо. Доводиться, що втрата зв’язку з Батьківщиною, у якій би формі це не відбувалося, не дозволяє митцю творчо самореалізуватися повною мірою. The importance and problematic range of local government reform in the regions of the country and ways of its solution in the field of culture are analyzed. The most effective steps are proposed for management structures at different levels to change attitudes of both the management and the local population regarding different cultural practices. Emphasis is placed on the role of sectoral methodological services in the implementation of this reform. The experience of other countries in activating the local population in this process is emphasized. An attempt has been made to offer effective, in the authors' opinion, solutions to the reform. Emphasis is placed on the educational factor.

The Synod of Pistoia and Vatican II

2019 ◽  
Author(s):  
Shaun Blanchard
Keyword(s):  
Eighteenth Century ◽  
Vatican Ii ◽  
High Water ◽  
Church Reform ◽  
Second Vatican Council ◽  
Vatican Council ◽  
Bible Reading ◽  
Different Levels ◽  
Continuity And Discontinuity

This book sheds further light on the nature of church reform and the roots of the Second Vatican Council (1962–65) through a study of eighteenth-century Catholic reformers who anticipated the Council. The most striking of these examples is the Synod of Pistoia (1786), the high-water mark of late Jansenism. Most of the reforms of the Synod were harshly condemned by Pope Pius VI in the bull Auctorem fidei (1794), and late Jansenism was totally discredited in the ultramontane nineteenth-century Church. Nevertheless, much of the Pistoian agenda—such as an exaltation of the role of bishops, an emphasis on infallibility as a gift to the entire Church, religious liberty, a simpler and more comprehensible liturgy that incorporates the vernacular, and the encouragement of lay Bible reading and Christocentric devotions—was officially promulgated at Vatican II. The career of Bishop Scipione de’ Ricci (1741–1810) and the famous Synod he convened are investigated in detail. The international reception (and rejection) of the Synod sheds light on why these reforms failed, and the criteria of Yves Congar are used to judge the Pistoian Synod as “true or false reform.” This book proves that the Synod was a “ghost” present at Vatican II. The council fathers struggled with, and ultimately enacted, many of the same ideas. This study complexifies the story of the roots of the Council and Pope Benedict XVI’s “hermeneutic of reform,” which seeks to interpret Vatican II as in “continuity and discontinuity on different levels” with past teaching and practice.

scholarly journals Assessment of patient specific information in the wild on fundus photography and optical coherence tomography

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Marion R. Munk ◽  
Thomas Kurmann ◽  
Pablo Márquez-Neila ◽  
Martin S. Zinkernagel ◽  
Sebastian Wolf ◽  
...  
Keyword(s):  
Deep Learning ◽  
Cross Sections ◽  
Underlying Disease ◽  
Geographic Atrophy ◽  
Clinical Population ◽  
Fundus Photography ◽  
Peak Performance ◽  
Patient Specific ◽  
Specific Information ◽  
Fundus Images

AbstractIn this paper we analyse the performance of machine learning methods in predicting patient information such as age or sex solely from retinal imaging modalities in a heterogeneous clinical population. Our dataset consists of N = 135,667 fundus images and N = 85,536 volumetric OCT scans. Deep learning models were trained to predict the patient’s age and sex from fundus images, OCT cross sections and OCT volumes. For sex prediction, a ROC AUC of 0.80 was achieved for fundus images, 0.84 for OCT cross sections and 0.90 for OCT volumes. Age prediction mean absolute errors of 6.328 years for fundus, 5.625 years for OCT cross sections and 4.541 for OCT volumes were observed. We assess the performance of OCT scans containing different biomarkers and note a peak performance of AUC = 0.88 for OCT cross sections and 0.95 for volumes when there is no pathology on scans. Performance drops in case of drusen, fibrovascular pigment epitheliuum detachment and geographic atrophy present. We conclude that deep learning based methods are capable of classifying the patient’s sex and age from color fundus photography and OCT for a broad spectrum of patients irrespective of underlying disease or image quality. Non-random sex prediction using fundus images seems only possible if the eye fovea and optic disc are visible.

scholarly journals The Hierarchy of Walking Needs and the COVID-19 Pandemic

2021 ◽  
Vol 18 (14) ◽  
pp. 7461
Author(s):  
Mohammad Paydar ◽  
Asal Kamani Fard
Keyword(s):  
Mental Health ◽  
Urban Design ◽  
Public Spaces ◽  
Empirical Literature ◽  
The World ◽  
The Face ◽  
Current Context ◽  
Mode Of Transport ◽  
Different Levels

More than 150 cities around the world have expanded emergency cycling and walking infrastructure to increase their resilience in the face of the COVID 19 pandemic. This tendency toward walking has led it to becoming the predominant daily mode of transport that also contributes to significant changes in the relationships between the hierarchy of walking needs and walking behaviour. These changes need to be addressed in order to increase the resilience of walking environments in the face of such a pandemic. This study was designed as a theoretical and empirical literature review seeking to improve the walking behaviour in relation to the hierarchy of walking needs within the current context of COVID-19. Accordingly, the interrelationship between the main aspects relating to walking-in the context of the pandemic- and the different levels in the hierarchy of walking needs were discussed. Results are presented in five sections of “density, crowding and stress during walking”, “sense of comfort/discomfort and stress in regard to crowded spaces during walking experiences”, “crowded spaces as insecure public spaces and the contribution of the type of urban configuration”, “role of motivational/restorative factors during walking trips to reduce the overload of stress and improve mental health”, and “urban design interventions on arrangement of visual sequences during walking”.

Sign in / Sign up

Export Citation Format

Share Document