scholarly journals A Gene-Based Classification of Primary Adrenocortical Hyperplasias

2020 ◽  
Vol 52 (03) ◽  
pp. 133-141 ◽  
Author(s):  
Fady Hannah-Shmouni ◽  
Constantine A. Stratakis
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Classification System ◽  
Diagnostic Algorithm ◽  
Genetic Defects ◽  
New Era ◽  
Personalized Care ◽  
Traditional Classification ◽  
New Gene

AbstractPrimary or adrenocorticotropin-independent adrenocortical tumors and hyperplasias represent a heterogeneous group of adrenocortical neoplasms that arise from various genetic defects, either in isolation or familial. The traditional classification as adenomas, hyperplasias, and carcinomas is non-specific. The recent identification of various germline and somatic genes in the development of primary adrenocortical hyperplasias has provided important new insights into the molecular pathogenesis of adrenal diseases. In this new era of personalized care and genetics, a gene-based classification that is more specific is required to assist in the understanding of their disease processes, hormonal functionality and signaling pathways. Additionally, a gene-based classification carries implications for treatment, genetic counseling and screening of asymptomatic family members. In this review, we discuss the genetics of benign adrenocorticotropin-independent adrenocortical hyperplasias, and propose a new gene-based classification system and diagnostic algorithm that may aid the clinician in prioritizing genetic testing, screening and counseling of affected, at risk individuals and their relatives.

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

A Novel Acromion Radiological Classification and Its Clinical Application Study: Comparing Rockwood Tilt View with Arthroscopic Findings in 101 Shoulders

2020 ◽  
Vol 10 (5) ◽  
pp. 1184-1189
Author(s):  
Yingchun Zhu ◽  
Xuewen Jia ◽  
Zhanping Jin ◽  
Yunfeng Mi ◽  
Zheyang Wang ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Classification System ◽  
Supraspinatus Tendon ◽  
New Classification ◽  
Tendon Tear ◽  
Cuff Tear ◽  
Observer Reliability ◽  
Traditional Classification

Background: It is estimated that more than 25% of general population more than 60 years old experience rotator cuff tear, acromial impingement syndrome is one of the most common causes. Morphology of acromion is an important extrinsic factor in the development of rotator cuff tear. The traditional classification of the acromion by Bigliani et al. based on supraspinatus outlet view has been widely used, but due to the high requirements for patients to obtain true supraspinatus outlet view and the poor inter-observer reliability, it brings lots of limitations to the clinical use of this classification. In our clinical work, we have noticed that the formation of acromial anterolateral spur on Rockwood tilt view has some relationship to a rotator cuff tear. Objectives: To develop a new classification of acromion based on the subacromial impingement theory and the Rockwood tilt view. And explore the application value of the new classification in the diagnosis and treatment of rotator cuff tear. Methods: From January 2017 to December 2017, 101 cases of shoulder arthroscopic surgeries for impingement syndrome or rotator cuff tear were retrospectively analyzed. We developed a new classification of the acromion based on the Rockwood tilt view as type I flat acromion, type II bump acromion and type III impingement acromion. The status of the supraspinatus tendon was also recorded as no tear, partial-thickness tear, and full-thickness tear. We tested the inter-observer and intra-observer reliability of the new classification system (Kappa value) and analyzed the correlation between the acromion morphology and the rupture of the supraspinatus tendon. Results: In all 101 cases, the most common type was the impingement acromion with 46 patients (45.5%), followed by bump acromion in 37 patients (36.6%), and the flat acromion in 18 patients (17.8%). The inter-observer reliability of the new classification system was significantly better than that of the traditional classification (0.826 vs. 0.281). The incidence of supraspinatus tendon tear in the patients with impingement acromion was significantly higher than that of the other two types of acromion (ϰ2 = 50.316,P < 0.05). Conclusion: The Rockwood tilt view can well demonstrate the exact architecture of the anterolateral acromion spur. The new classification based on Rockwood tilt view has high reliability and good reproducibility. The type III impingement acromion correlates highly with the supraspinatus tendon tear. Level of evidence: Level II.

Medico-Social Examination: the Modern Aspects of Legal Regulation

10.12737/5942 ◽  
2014 ◽  
Vol 8 (1) ◽  
pp. 1-6
Author(s):  
Разиньков ◽  
D. Razinkov ◽  
Михайлов ◽  
I. Mikhaylov ◽  
Михайлова ◽  
...  
Keyword(s):  
Legal Regulation ◽  
The State ◽  
Government Support ◽  
Sociological Research ◽  
Constitutional Rights ◽  
Disabled People ◽  
Government Programs ◽  
Social Sphere ◽  
Traditional Classification

In article the legislative base, which is the foundation of functioning of the state system of medical-social examination, is considered and analyzed. The questions of legal regulation of the state activity in the sphere of social policy concerning disabled people are discussed. The methods of sociological research and logical analysis of literature and official normatively-legal papers, being the basis of activity of the system of medico-social examination and sphere of giving to the invalids the equal with other citizens possibilities in realization of constitutional rights and freedoms, public welfare and establishment, are applied to the invalids as the measures of government support. In conclusions the emphasis is placed on need of carrying out radical restructurings for system of medico-social examination. It is offered to modify the existing classification of indexes of health and indexes, related to the health taking into account the socio-economic, climatic and other features; to strength the control of execution of government programs in the medico-social sphere; to modify the traditional classification of groups of disability; to change a way of features accounting of disabled people with various functional violations proceeding from a complex assessment of dysfunction of the neuro-physiological and psycho-physiological statuses; to use the innovative technologies of diagnostics, treatment, rehabilitation in correction of the functional violations with taking in mind not only the nosologic group of disease, but by an individual approach.

scholarly journals UV Spectral Classification of B Stars

1985 ◽  
Vol 111 ◽  
pp. 411-413
Author(s):  
Janet Rountree ◽  
George Sonneborn ◽  
Robert J. Panek
Keyword(s):  
Classification System ◽  
Classification Criteria ◽  
High Dispersion ◽  
Spectral Classification ◽  
Early Type ◽  
B Stars ◽  
Dimensional Classification ◽  
Early Type Stars ◽  
Comprehensive Classification

Previous studies of ultraviolet spectral classification have been insufficient to establish a comprehensive classification system for ultraviolet spectra of early-type stars because of inadequate spectral resolution. We have initiated a new study of ultraviolet spectral classification of B stars using high-dispersion IUE archival data. High-dispersion SWP spectra of MK standards and other B stars are retrieved from the IUE archives and numerically degraded to a uniform resolution of 0.25 or 0.50 Å. The spectra (in the form of plots or photowrites) are then visually examined with the aim of setting up a two-dimensional classification matrix. We follow the method used to create the MK classification system for visual spectra. The purpose of this work is to examine the applicability of the MK system (and in particular, the set of standard stars) in the ultraviolet, and to establish classification criteria in this spectral region.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

scholarly journals Effectiveness of the Interventions Utilized in Genetic Counseling

2014 ◽  
Vol 2014 ◽  
pp. 1-19 ◽  
Author(s):  
Jeeyae Choi ◽  
Hyeoneui Kim
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Information Technologies ◽  
Decision Aids ◽  
Healthcare Providers ◽  
Experimental Studies ◽  
Well Being ◽  
Diagnostic Tools ◽  
Effective Decision ◽  
Single Intervention

Background. Advances in genetic science and biotechnology accumulated huge knowledge of genes and various genetic tests and diagnostic tools for healthcare providers including nurses. Genetic counseling became important to assist patients making decisions about obtaining genetic testing or preventive measures. Method. This review was conducted to describe the counseling topics, various interventions adopted in genetic counseling, and their effectiveness. Experimental studies (N=39) published between 1999 and 2012 were synthesized. Results. The most frequently covered topic was benefits and limitations of genetic testing on breast cancer ovarian and colorectal cancers. Most of researchers focused on evaluating cognitive aspect and psychological well-being. Conclusion. No single intervention was consistently reported to be effective. Decision aids enhanced with information technologies have potential to improve the outcomes of genetic counseling by providing tailored information and facilitating active engagement of patients in information uptake. Clinical Implication. When nurses are familiar with topics and interventions of genetic counseling, they are well positioned to provide genetic/genomic information to the patient and families.

System for Cross-Classification of Small Group Studies

1968 ◽  
Vol 23 (3_suppl) ◽  
pp. 1295-1304
Author(s):  
Richard Heslin ◽  
Dexter Dunphy
Keyword(s):  
Small Group ◽  
Classification System ◽  
Sufficient Information ◽  
Coding System ◽  
Similar System ◽  
Cross Classification

The article describes a method for placing information into a classification system that maximizes the flexibility in retrieval at a later time. It uses (1) a stack of edge-punched cards containing information of interest that has been punched according to (2) a coding system developed by the users. The authors have developed a classification system for the small-group field which is depicted and described in detail. It allows for coding a study on about 50 dimensions to (1) locate an article, (2) give an over-all description of the article, and (3) indicate the variables measured or discussed. Examples of uses and discussion of special features are provided to give the reader sufficient information to establish and use the system or a similar system for his own purposes.

Etiologic Classification of TIA and Minor Stroke by A-S-C-O and Causative Classification System as Compared to TOAST Reduces the Proportion of Patients Categorized as Cause Undetermined

2014 ◽  
Vol 38 (2) ◽  
pp. 121-126 ◽  
Author(s):  
Jamsheed A. Desai ◽  
Ahmad R. Abuzinadah ◽  
Oje Imoukhuede ◽  
Manya L. Bernbaum ◽  
Jayesh Modi ◽  
...  
Keyword(s):  
Classification System ◽  
Minor Stroke

Introduction of a new AAC symbol classification system: the multidimensional quaternary symbol continuum (MQSC)

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Eliada Pampoulou ◽  
Donald R. Fuller
Keyword(s):  
Peer Review ◽  
Classification System ◽  
Augmentative And Alternative Communication ◽  
Social Issues ◽  
Content Type ◽  
Design Attributes ◽  
Wide Range ◽  
Current Classification ◽  
Symbol Classification

PurposeWhen the augmentative and alternative communication (ACC) model (Lloyd et al., 1990) was proposed, these components of symbols were not considered, nor were they contemplated when superordinate (Lloyd and Fuller, 1986) and subordinate levels (Fuller et al., 1992) of AAC symbol taxonomy were developed. The purpose of this paper is to revisit the ACC model and propose a new symbol classification system called multidimensional quaternary symbol continuum (MQSC)Design/methodology/approachThe field of AAC is evolving at a rapid rate in terms of its clinical, social, research and theoretical underpinnings. Advances in assessment and intervention methods, technology and social issues are all responsible to some degree for the significant changes that have occurred in the field of AAC over the last 30 years. For example, the number of aided symbol collections has increased almost exponentially over the past couple of decades. The proliferation of such a large variety of symbol collections represents a wide range of design attributes, physical attributes and linguistic characteristics for aided symbols and design attributes and linguistic characteristics for unaided symbols.FindingsTherefore, it may be time to revisit the AAC model and more specifically, one of its transmission processes referred to as the means to represent.Originality/valueThe focus of this theoretical paper then, is on the current classification of symbols, issues with respect to the current classification of symbols in terms of ambiguity of terminology and the evolution of symbols, and a proposal for a new means of classifying the means to represent.Peer reviewThe peer review history for this article is available at: https://publons.com/publon10.1108/JET-04-2021-0024

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