scholarly journals Genetic researches in standards of delivery of health care

2018 ◽  
Vol 20 (1) ◽  
pp. 190-194
Author(s):  
V Yu Kravtsov ◽  
A I Solovev ◽  
I A Ivanov
Keyword(s):  
Health Care ◽  
Clinical Practice ◽  
Medical Care ◽  
Molecular Genetic ◽  
Hereditary Diseases ◽  
Medical Services ◽  
Genetic Diagnostics ◽  
Parasitic Diseases ◽  
Causative Agents ◽  
Molecular Genetic Diagnostics

The analysis of legal base of genetic researches in clinical practice is carried out. Modern standards of medical care are analyzed. The list of the diseases and pathological states demanding performance of genetic researches is made. The list of the medical services connected with genetic researches is also made. It is shown, that genetic researches make 10% of the nomenclature of medical services. From them about 60% medical services provide diagnosis of somatic pathology, the others are directed to identification of nucleinic acids of causative agents of infectious and parasitic diseases. Genetic researches are carried out mainly at a stage of specialized and primary medical care. Genetic researches are included in20% of standards of medical care. Genetic researches are conducted concerning 15 classes of diseases. More often genetic researches are conducted for diagnosis of the latent infections, enzimopatiya, hereditary diseases of a metabolism, and also cancer. There are some problems of cytogenetic and molecular genetic diagnostics in hospitals. Genetic researches are complex and expensive. Interpretation of the received results is difficult. It is necessary to develop standards of genetic researches. It is necessary to improve legal base of genetic researches.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

METHODS OF MOLECULAR GENETIC DIAGNOSTICS IN THE SYSTEM OF EPIDEMIOLOGICAL SURVEILLANCE IN THE HOSPITAL

2018 ◽  
Vol 13 (4) ◽  
pp. 96-99
Author(s):  
O.A. ORLOVA ◽  
M.N. ZAMYATIN ◽  
N.A. UMZUNOVA ◽  
N.N. LASHENKOVA ◽  
V.G. AKIMKIN ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Epidemiological Surveillance ◽  
Genetic Diagnostics ◽  
Molecular Genetic Diagnostics

scholarly journals Economic theory meets clinical practice: moral hazard

2019 ◽  
Vol 4 ◽  
Author(s):  
Olga Vasylyeva
Keyword(s):  
Health Care ◽  
Economic Theory ◽  
Clinical Practice ◽  
Moral Hazard ◽  
Real Life ◽  
Medical Services ◽  
Health Care Economics ◽  
Services Utilization ◽  
Field Of Vision ◽  
Concept Of Health

Economic theory must be tested by reality to prove that the goal is achievable and reproducible. However, health care economics do not always theorize based on modern-day medical practice, which results in detachment of some economic recommendations from real-life medicine. The theory of “moral hazard” assumes that patients will utilize more medical services if they transfer the risk of cost to insurances. In this article, we will revisit the understanding of appropriate avoidance of medical services and incorporate no-show rate, avoidance of care, and nonadherence into the concept of health services utilization. The primary goal of this interdisciplinary commentary is to bridge economic theory with clinical practice. It is written from the perspective of a clinical practitioner, who applies realities of everyday medicine to economic reasoning. The author hopes that this abstract will extend the field of vision of health care economics.   

scholarly journals Introduction to Molecular Genetic Diagnostics / UVOD U MOLEKULARNU GENETIČU DIJAGNOSTIKU

2014 ◽  
Vol 33 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Ivana Novaković ◽  
Nela Maksimović ◽  
Aleksandra Pavlović ◽  
Milena Žarković ◽  
Branislav Rovčanin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Single Gene ◽  
Molecular Genetic ◽  
Drug Efficacy ◽  
Genetic Diagnostics ◽  
Molecular Genetic Testing ◽  
Main Method ◽  
Molecular Genetic Diagnostics ◽  
Modern Medical Practice

Summary Molecular genetic testing is part of modern medical practice. DNA tests are an essential part of diagnostics and genetic counseling in single gene diseases, while their application in polygenic disorders is still limited. Pharmacogenetics studies DNA variants associated with variations in drug efficacy and toxicity, and tests in this field are being developed rapidly. The main method for molecular genetic testing is the polymerase chain reaction, with a number of modifications. New methods, such as next generation sequencing and DNA microarray, should allow simultaneous analysis of a number of genes, even whole genome sequencing. Ethical concerns in molecular genetic testing are very important, along with legislation. After molecular genetic testing, interpretation of results and genetic counseling should be done by professionals. With the example of thrombophilia, we discuss questions about genetic testing, its possibilities and promises.

Health Literacy: A Brief Primer for the Otolaryngologist

2016 ◽  
Vol 156 (3) ◽  
pp. 395-396 ◽  
Author(s):  
Uchechukwu C. Megwalu
Keyword(s):  
Health Care ◽  
Decision Making ◽  
Clinical Practice ◽  
Health Literacy ◽  
Medical Care ◽  
Vital Sign ◽  
Shared Decision ◽  
Health Care Environment ◽  
Care Environment ◽  
Newest Vital Sign

Health literacy has been shown to affect outcomes in a number of medical conditions. Despite the complexity of care that is often required among otolaryngology patients, the literature on health literacy in this field is sparse. Otolaryngologists need to be aware of issues related to health literacy due to the changing health care environment. The increased complexity of medical care, the greater involvement of patients in shared decision making, and the higher administrative burden on patients have increased their health literacy requirements. Assessing health literacy in clinical practice may help identify patients who might require additional help in navigating the health care system. The Brief Health Literacy Screen and the Newest Vital Sign are 2 measures that are easy to apply in clinical practice.

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