scholarly journals Personalized Medicine in the Treatment of Atrial Fibrillation: Myth or Reality?

2019 ◽  
Vol 15 (1) ◽  
pp. 90-94
Author(s):  
V. I. Podzolkov ◽  
A. I. Tarzimanova
Keyword(s):  
Risk Factors ◽  
Atrial Fibrillation ◽  
Molecular Genetic ◽  
Modern Medicine ◽  
Therapeutic Drug ◽  
Genetic Studies ◽  
Genomic Studies ◽  
Familial Atrial Fibrillation ◽  
Life Threatening ◽  
Genetic Mechanisms

Due to the spectacular progress made in human genomic studies, molecular biology and genetics have become an essential part of modern medicine making it possible to early detect the risk factors and select the personalized treatment. The genetic studies have been widely used in the diagnosis and treatment of arrhythmias. Significant advances in the study of electrophysiological and genetic mechanisms of life-threatening arrhythmias have been achieved through studies of familial conditions with high risk of sudden cardiac death. However, the area of special interest for a practitioner is the identification of mutations associated with atrial fibrillation (AF). The novel methods enable us to study histological, structural, cellular and molecular causes of this arrhythmia. The two main directions of molecular genetic studies of AF are the identification of genetic mutations causing familial atrial fibrillation and the study of different genes polymorphism predisposing to arrhythmia in general population. Gene polymorphism screening helps both identify AF risk factors and predict its evolution from paroxysmal to chronic type. Emerging genetic studies provided explanation for the variable efficacy of antiarrhythmic drugs. It can be assumed that the clinical use of genetic methods will allow accurate and personalized selection of antiarrhythmics. Currently, therapeutic drug monitoring is widely recommended for a number of medications including cytostatics, aminoglycosides, anticonvulsants, and, by some researchers, antiarrhythmic and anticoagulant drugs. Medicine from the very beginning was intended to be personalized, but until recently it was a little more than a myth. The discovery of the human genome makes it possible to choose the most effective treatment with minimal adverse drug reactions for a particular patient.

Neurobiology of Attention Deficit/Hyperactivity Disorder

2013 ◽  
pp. 1034-1047 ◽  
Author(s):  
Stephen V. Faraone ◽  
Joseph Biederman
Keyword(s):  
Risk Factors ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Molecular Genetic ◽  
Mechanisms Of Action ◽  
Genetic Studies ◽  
Hyperactivity Disorder ◽  
High Heritability ◽  
Adhd Medications ◽  
Very High

Attention deficit hyperactivity disorder (ADHD) is a prevalent, early onset and persistent, disorder of inattention, hyperactivity and impulsivity. The mechanisms of action of ADHD medications, neuroimaging studies and studies of monoamine systems and animal models suggest that dysregulation of catecholaminergic neurotransmission in cerebellar-corticostriatal circuits plays a key role in the pathophysiology of ADHD. The efficacy of ADHD medications likely arises from their differing profile of effects on a) dopaminergic and noradrenergic systems and b) the localization of these effects in prefrontal cortex and striatum ADHD has a very high heritability and although molecular genetic studies have found no causal common DNA variants yet, they have found strong evidence that rare duplications and deletions are risk factors for ADHD. Environmental risk factors, especially those that impact early neurodevelopment (i.e., exposure to cigarette smoking and alcohol during pregnancy), also influence susceptibility to ADHD.

Molecular Genetic Studies in Atrial Fibrillation

Cardiology ◽  
2003 ◽  
Vol 100 (3) ◽  
pp. 109-113 ◽  
Author(s):  
Ling-Ping Lai ◽  
Jiunn-Lee Lin ◽  
Shoei K. Stephen Huang
Keyword(s):  
Atrial Fibrillation ◽  
Molecular Genetic ◽  
Genetic Studies

scholarly journals Drug-Induced Atrial Fibrillation / Atrial Flutter

2022 ◽  
Vol 17 (6) ◽  
pp. 1-18
Author(s):  
O. D Ostroumova ◽  
M. S. Chernyaeva ◽  
A. I. Kochetkov ◽  
A. E. Vorobieva ◽  
D. I. Bakhteeva ◽  
...  
Keyword(s):  
Risk Factors ◽  
Atrial Fibrillation ◽  
Differential Diagnosis ◽  
Holter Monitoring ◽  
Clinical Situation ◽  
Drug Induced ◽  
Self Monitoring ◽  
Conduction Disturbances ◽  
Treatment And Prevention ◽  
Life Threatening

Drug-induced atrial fibrillation / flutter (DIAF) is a serious and potentially life-threatening complication of pharmacotherapy. Purpose of the work: systematization and analysis of scientific literature data on drugs, the use of which can cause the development of DIAF, as well as on epidemiology, pathophysiological mechanisms, risk factors, clinical picture, diagnosis and differential diagnosis, treatment and prevention of DIAF. Analysis of the literature has shown that many groups of drugs can cause the development of DIAF, with a greater frequency while taking anticancer drugs, drugs for the treatment of the cardiovascular, bronchopulmonary and central nervous systems. The mechanisms and main risk factors for the development of DIAF have not been finally established and are known only for certain drugs, therefore, this section requires further study. The main symptoms of DIAF are due to the severity of tachycardia and their influence on the parameters of central hemodynamics. For diagnosis, it is necessary to conduct an electrocardiogram (ECG) and Holter monitoring of an ECG and echocardiography. Differential diagnosis should be made with AF, which may be caused by other causes, as well as other rhythm and conduction disturbances. Successful treatment of DIAF is based on the principle of rapid recognition and immediate discontinuation of drugs (if possible), the use of which potentially caused the development of adverse drug reactions (ADR). The choice of management strategy: heart rate control or rhythm control, as well as the method of achievement (medication or non-medication), depends on the specific clinical situation. For the prevention of DIAF, it is necessary to instruct patients about possible symptoms and recommend self-monitoring of the pulse. It is important for practitioners to be wary of the risk of DIAF due to the variety of drugs that can potentially cause this ADR.

scholarly journals Nature and nurture in neuropsychiatric genetics: where do we stand?

2010 ◽  
Vol 12 (1) ◽  
pp. 7-23 ◽  
Keyword(s):  
Risk Factors ◽  
Genetic Epidemiology ◽  
Genetic Variants ◽  
Recent Progress ◽  
Molecular Genetic ◽  
Great Promise ◽  
Human Populations ◽  
Genetic Studies ◽  
Key Concepts ◽  
Nature And Nurture

Both genetic and nongenetic risk factors, as well as interactions and correlations between them, are thought to contribute to the etiology of psychiatric and behavioral phenotypes. Genetic epidemiology consistently supports the involvement of genes in liability. Molecular genetic studies have been less successful in identifying liability genes, but recent progress suggests that a number of specific genes contributing to risk have been identified. Collectively, the results are complex and inconsistent, with a single common DNA variant in any gene influencing risk across human populations. Few specific genetic variants influencing risk have been unambiguously identified, Contemporary approaches, however hold great promise to further elucidate liability genes and variants, as well as their potential inter-relationships with each other and with the environment. We will review the fields of genetic epidemiology and molecular genetics, providing examples from the literature to illustrate the key concepts emerging from this work.

When Genetics Gets under Your Skin

1996 ◽  
Vol 1 (2) ◽  
pp. 97-100 ◽  
Author(s):  
Sherri J. Bale
Keyword(s):  
Risk Factors ◽  
Skin Diseases ◽  
Association Studies ◽  
Molecular Genetic ◽  
Underlying Mechanism ◽  
Statistical Techniques ◽  
Disease Genes ◽  
Genetic Studies ◽  
Genetic Techniques ◽  
Skin Biology

Background: Only recently has the advent of the use of modern statistical and molecular genetic techniques begun to increase our understanding of the study of dermatology and skin biology. Objective: This paper will briefly outline several statistical techniques that are used in genetic studies of skin disease by reviewing these techniques, the types of questions that can be answered using them, and issues that should be considered in evaluating and interpreting papers that use them. Methods: A discussion of association studies, segregation analyses, and linkage analyses with respect to skin diseases is presented. Results: Association studies can be used to identify both genetic and environmental risk factors for disease. Segregation analyses are used to identify the underlying mechanism for disease aggregation in families. Linkage analysis is used to map disease genes to chromosomes. Conclusion: Dermatologists should be familiar with the types of genetic questions that can be answered with each technique, and should remain aware of the limitations in interpretation.

scholarly journals Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome

2019 ◽  
Vol 20 (17) ◽  
pp. 4298 ◽  
Author(s):  
Vo Van Giau ◽  
Eva Bagyinszky ◽  
Young Chul Youn ◽  
Seong Soo A. An ◽  
Sang Yun Kim
Keyword(s):  
Small Vessel Disease ◽  
Molecular Genetic ◽  
Small Vessel ◽  
Monogenic Disease ◽  
Genetic Studies ◽  
Common Genetic Variants ◽  
Genetic Mechanisms ◽  
High Degree ◽  
Genetic Molecular Analysis ◽  
Cerebral Small Vessel Diseases

Cerebral small vessel diseases (SVD) have been causally correlated with ischemic strokes, leading to cognitive decline and vascular dementia. Neuroimaging and molecular genetic tests could improve diagnostic accuracy in patients with potential SVD. Several types of monogenic, hereditary cerebral SVD have been identified: cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL), hereditary diffuse leukoencephalopathy with spheroids (HDLS), COL4A1/2-related disorders, and Fabry disease. These disorders can be distinguished based on their genetics, pathological and imaging findings, clinical manifestation, and diagnosis. Genetic studies of sporadic cerebral SVD have demonstrated a high degree of heritability, particularly among patients with young-onset stroke. Common genetic variants in monogenic disease may contribute to pathological progress in several cerebral SVD subtypes, revealing distinct genetic mechanisms in different subtype of SVD. Hence, genetic molecular analysis should be used as the final gold standard of diagnosis. The purpose of this review was to summarize the recent discoveries made surrounding the genetics of cerebral SVD and their clinical significance, to provide new insights into the pathogenesis of cerebral SVD, and to highlight the possible convergence of disease mechanisms in monogenic and sporadic cerebral SVD.

scholarly journals Insights into attention-deficit/hyperactivity disorder from recent genetic studies

2021 ◽  
pp. 1-13
Author(s):  
Isabell Brikell ◽  
Christie Burton ◽  
Nina Roth Mota ◽  
Joanna Martin
Keyword(s):  
Risk Factors ◽  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Large Scale ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Studies ◽  
Hyperactivity Disorder ◽  
Genetic Risks

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder (NDD). In this narrative review, we summarize recent advances in quantitative and molecular genetic research from the past 5–10 years. Combined with large-scale international collaboration, these advances have resulted in fast-paced progress in understanding the etiology of ADHD and how genetic risk factors map on to clinical heterogeneity. Studies are converging on a number of key insights. First, ADHD is a highly polygenic NDD with a complex genetic architecture encompassing risk variants across the spectrum of allelic frequencies, which are implicated in neurobiological processes. Second, genetic studies strongly suggest that ADHD diagnosis shares a large proportion of genetic risks with continuously distributed traits of ADHD in the population, with shared genetic risks also seen across development and sex. Third, ADHD genetic risks are shared with those implicated in many other neurodevelopmental, psychiatric and somatic phenotypes. As sample sizes and the diversity of genetic studies continue to increase through international collaborative efforts, we anticipate further success with gene discovery, characterization of how the ADHD phenotype relates to other human traits and growing potential to use genomic risk factors for understanding clinical trajectories and for precision medicine approaches.

scholarly journals Morphological and laboratory genetic studies of muscular dystrophies

2021 ◽  
Vol 9 (3) ◽  
pp. 481-491
Author(s):  
T.M. Cherdantseva ◽  
◽  
O.V. Bakovetskaya ◽  
A.A. Nikiforov ◽  
M.S. Nekrasovа ◽  
...  
Keyword(s):  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Modern Medicine ◽  
Muscular Dystrophies ◽  
Electronic Library ◽  
Biopsy Material ◽  
Genetic Studies ◽  
The Past ◽  
Comprehensive Examination

Muscular dystrophies are one of the most pressing problems of modern medicine. In the electronic library system e-Library on the topic “Muscular Dystrophies” 13,263 papers have been published, over the past 5 years — 4,221, and in PubMed, at the request of “Muscular Dystrophy”, more than 37 thousand publications have been found, over the past 5 years there are about 6,851. The interest in this problem is understandable, since the prevalence of progressive muscular dystrophies is 200 cases per 1 000,000 population, which permits to classify them as the most common forms of hereditary pathology. The article provides an overview of information on morphological and laboratory genetic. CONCLUSION: The literature review showed that despite predomination of molecular-genetic methods of examinations nowadays, morphological and immunohistological evaluation of the damaged muscles did not lose its actuality. This is because it is not always possible to perform genetic analysis in the patient due to technical complexity of the procedure, use of costly equipment, many genetic mutations. Therefore, in some forms of muscular dystrophies (for example, in dysferlinopathies) of primary importance is morphological and immunohistological analysis of biopsy material. Nevertheless, this method should not be considered as most precise due to similarity of the morphology of different kinds of muscular dystrophies. Thus, correct diagnosis always requires systemic approach including comprehensive examination of the patient with use of maximally available methods. This is necessary for genetic consultations of patient, determination of peculiarities of therapy and for inclusion of patients in clinical trials.

Molecular genetic studies as an auxiliary method for determining risk factors in the clinical examination of the adult population

2018 ◽  
pp. 75-77
Author(s):  
E.Yu. Sizykh ◽  
N.A. Solovyova ◽  
M.A. Varlamova ◽  
A.T. Dyakonova ◽  
Kh.A. Kurtanov ◽  
...  
Keyword(s):  
Risk Factors ◽  
Clinical Examination ◽  
Adult Population ◽  
Molecular Genetic ◽  
Genetic Studies

scholarly journals Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

2005 ◽  
Vol 7 (14) ◽  
pp. 1-20 ◽  
Author(s):  
Douglas C. Bittel ◽  
Merlin G. Butler
Keyword(s):  
Clinical Presentation ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Molecular Genetic ◽  
Clinical Genetics ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Future Directions ◽  
Life Threatening ◽  
Genetic Mechanisms

Prader–Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of expression of paternally inherited genes known to be imprinted and located in the chromosome 15q11-q13 region. PWS is considered the most common syndromal cause of life-threatening obesity and is estimated at 1 in 10 000 to 20 000 individuals. A de novo paternally derived chromosome 15q11-q13 deletion is the cause of PWS in about 70% of cases, and maternal disomy 15 accounts for about 25% of cases. The remaining cases of PWS result either from genomic imprinting defects (microdeletions or epimutations) of the imprinting centre in the 15q11-q13 region or from chromosome 15 translocations. Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research.

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