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Russian Journal for Personalized Medicine

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Vol 4, No 4 (2024)
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CARDIOLOGY

288-294 126
Abstract

   Over the past 40 years, the understanding of arrhythmogenic cardiomyopathy (ACM) has changed significantly. Thus, with the advent of new knowledge, different terms have been used to name this heart disease: arrhythmogenic right ventricular dysplasia (ARVD), arrhyth­mogenic right ventricular cardiomyopathy (ARVC), and arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/ARVD). In 1995, this heart disease was included in the World Health Organization classification of cardiomyopathies under the name ARVC. With the discovery of the left ventricular variant, the term ACM was introduced. The review presents generalized historical aspects in the development of knowledge about this pathology: from the first mention of the disease to the present.

295-312 137
Abstract

   Cardiovascular diseases are the most common cause of death both in Russia and throughout the world. Acute coronary syndrome (ACS) develops during the coronary heart disease and represents a serious medical and social problem. The effectiveness and safety of pharmaco­therapy for ACS can be influenced by the individual genetic characteristics of the patient, primarily single nucleotide polymorphisms (SNPs) of the primary DNA structure. The literature review contains information about the epidemiology of ACS, the nomenclature of SNPs, and the molecular basis of the influence of SNPs on physiological and pathological processes in the human body. The main groups of drugs used for ACS and the main functional groups of protein­coding genes, SNPs of which can modulate an individual’s response to pharmacother­apy, are listed in the review. SNPs of non­coding RNA genes have been characterized as promising objects of study. The review shows concept of multilevel regulation of the interaction between drug and human organism and the role of SNPs in that concept. Detection of SNPs is an important component of studying the pharmacokinetics and pharmacodynamics of drugs, since information about the patient’s genetic status is the basis for a personalized approach to pharmacotherapy.

PAEDIATRICS

313-318 193
Abstract

   TK2­-associated mitochondrial myopathy is a clinically heterogeneous autosomal recessive disease characterized by a predominantly myopathic phenotype with variable age of onset. There are 3 main clinical forms depending on the age of onset: infantile, childhood (juvenile) and late onset (adult). The article presents a description of a clinical case of a patient with an infantile form of the disease with a significant positive effect of pathogenetic therapy with nucleosides.

319-328 84
Abstract

   Chronic inflammatory demyelinating polyneuropathy, which occurs in childhood, is usually treatable with the use of standard immunosuppressive drugs. Patients with refractory course may have disabling complications and need biological therapy. The article provides information about the disease and a description of a case refractory to standard therapy with a good response to biological therapy with rituximab.

НЕЙРОХИРУРГИЯ

329-339 102
Abstract

   Superselective chemoembolization (SC) is currently a promising method for the treatment of the head and neck cancer. We describe a clinical case of successful combined (SC+ general chemotherapy) treatment of malignant nasopharyngeal neoplasm in a 40­year­old patient with bilateral spread ofT4N2­3M0, resulting in hearing loss on both sides, significant difficulty in nasal breathing and complicated by nasal bleeding. Quality of life of the patient improved significantly.

DIAGNOSTIC RADIOLOGY

340-347 106
Abstract

   This article is a comprehensive review of the evolution of magnetic resonance imaging (MRI) techniques for fetal imaging from the beginning of the 21st century to 2023. The focus is on new techniques, protocols, and technologies, including the use of 1.5 Tesla and 3 Tesla MRI. Teratogenic effects, ultrafast sequences, application of T1­ and T2­weighted imaging sequenc­es, and advanced techniques such as diffusion­weighted imaging (DWI), SWI technology with guided wave overlay in parallel imaging (CAIPI) are reviewed. Fetal magnetic resonance imaging is becoming a key modality in obstetric diagnosis, signifi­cantly overcoming the limitations of ultrasound. The evolution of MRI techniques reflects a constant endeavour to improve image quality, reduce risks and expand diagnostic capabilities.

348-354 144
Abstract

   Tetrad of Fallot is one of the ten most common congenital heart defects that cause significant circulatory problems and lead to severe clinical manifestations. It is characterized by a combination of four anatomical defects: obstruction of the outflow tract of the right ventricle or pulmonary artery stenosis, ventricular septal defect, aortic dextraposition and right ventricular hypertrophy. This disease causes important social and economic consequences for the health care system, as it requires complex surgical intervention and a long period of rehabilitation. Timely diagnosis and an integrated approach to treatment, which includes surgical correction and postoperative rehabilitation, can improve the prognosis for patients, increase life expectancy and its quality. Modern complex methods of cardiological imaging, such as echocardiography, computed tomography and magnetic resonance imaging, help diagnose tetrad Fallot, accurately assess the degree of defect, hemodynamics and plan the most effective treatment.

355-360 176
Abstract

   Modern methods of radiation imaging play an important role in the diagnosis and treatment of temporomandibular joint (TMJ) pathologies. This article examines the main imaging tech­niques, including radiography, computed tomography (CT), magnetic resonance imaging (MRI), ultrasound (ultrasound) and cone beam computed tomography (CBCT). Radiography, including panoramic and transcranial images, remains the main method of primary assessment of TMJ bone structures, due to its accessibility and low cost. Computed tomography with subsequent reconstruction provides detailed three­dimensional images of bones, which is es­pecially useful when planning surgical interventions, but have a high radiation dose. Magnetic resonance imaging is considered the “gold standard” for imaging TMJ soft tissues, such as the articular disc and ligaments, without the use of ionizing radiation. Ultrasound, being an affordable and non­invasive method, allows you to evaluate soft tissues in real time, but its diagnostic value depends on the experience of the operator. Cone beam computed tomography (CBCT) Combines the advantages of CT and radiography, providing high­resolution images with low radiation dose, making it ideal for evaluating bone structures. Current research is also aimed at integrating hybrid imaging techniques such as PET­CT and PET­MRI, and using artificial intelligence to automatically interpret images. The correct choice of imaging method depends on the specific clinical situation and the objectives of the study. Modern radiation imaging technologies significantly improve the accuracy of diagnosis and the effectiveness of treatment of TMJ pathologies, providing better medical care to patients.

INFECTIOUS DISEASES

361-369 94
Abstract

   Experiences in Cryptococcus neoformans meningitis laboratory diagnosis in HIV infected patient are presented.

HEMATOLOGY AND BLOOD TRANSFUSION

370-376 99
Abstract

   The article is devoted to the description of clinical cases with suspected presence of macroforms of the analytes under study in the blood serum of patients who met in a centralized clinical diagnostic laboratory. The issues of clinical importance and the possibility of laboratory diagnostics in their detection are discussed.



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ISSN 2782-3806 (Print)
ISSN 2782-3814 (Online)