Клинический случай синдрома Кернса–Сейра: диагностика, тактика лечения

The article outlines the current knowledge of the etiology, pathogenesis, clinical features and diagnostic criteria of one of the forms of mitochondrial encephalomyopathy – the Kearns–Sayre syndrome. The observation of a patient with an incomplete case of the Kearns–Sayre syndrome is presented. The complexity of diagnosis and the range of differential diagnostic search as well as approaches to treatment with the use of neurotrophic factors are widely discussed in the research.В статье изложены современные представления об этиологии, патогенезе, клинических особенностях и диагностических критериях одной из форм митохондриальной патологии – синдроме Кернса–Сейра. Представлено наблюдение пациента с неполным вариантом синдрома Кернса–Сейра. Обсуждаются сложности диагностики и круг дифференциально-диагностического поиска, подходы к лечению с применением нейротрофических факторов

PPARγ gene expression analysis in psoriasis treatment

Introduction. PPARγ is the most studied PPAR subtype and is expressed predominantly in adipose tissue, heart, colon, kidney, spleen, intestine, skeletal muscle, liver, macrophages, and skin. In the skin, PPARγ controls the genetic regulation of gene network expression involved in cell proliferation, differentiation, and inflammatory responses. PPARγ (Peroxisome proliferator-activated receptor gamma) has only recently come to be considered a key player in the development and pathogenesis of psoriasis and psoriatic inflammatory conditions.Aim of the study. To study PPARγ gene expression in the affected skin of psoriasis patients in comparison with visually unaffected skin. To study changes in PPARγ gene expression level in psoriasis affected skin in comparison with unaffected skin in patients before and after treatment with low-level laser radiation with a wavelength of 1.27 μm.Materials and methods. Twelve patients with psoriasis participated in the study. Biopsies from unaffected skin areas were taken at a distance of about 3 cm from the affected skin. Analysis was performed by real-time PCR.Results and Discussion. We quantitatively measured PPARγ gene expression using RT-PCR in the affected skin of patients with psoriasis in comparison with visually unaffected skin in the same patients before and after treatment with low-level laser radiation with a wavelength of 1.27 μm (the short-wave part of the infrared range). The study experimentally showed a 1.3 ± 0.27-fold decrease in PPARγ gene expression in the affected skin of psoriasis patients on average. Significant increase in over-expression of PPARγ gene up to 2,13 ± 0,47 times was observed after treatment of patients with low-level laser radiation.Conclusions. PPARγ gene expression may be an indicator of the efficacy of psoriasis treatment at the molecular level, as well as become a new therapeutic target

Clinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment

The article outlines the current knowledge of the etiology, pathogenesis, clinical features and diagnostic criteria of one of the forms of mitochondrial encephalomyopathy – the Kearns–Sayre syndrome. The observation of a patient with an incomplete case of the Kearns–Sayre syndrome is presented. The complexity of diagnosis and the range of differential diagnostic search as well as approaches to treatment with the use of neurotrophic factors are widely discussed in the research

The Role of Transcription Factor PPAR-γ in the Pathogenesis of Psoriasis, Skin Cells, and Immune Cells

The peroxisome proliferator-activated receptor PPAR-γ is one of three PPAR nuclear receptors that act as ligand-activated transcription factors. In immune cells, the skin, and other organs, PPAR-γ regulates lipid, glucose, and amino acid metabolism. The receptor translates nutritional, pharmacological, and metabolic stimuli into the changes in gene expression. The activation of PPAR-γ promotes cell differentiation, reduces the proliferation rate, and modulates the immune response. In the skin, PPARs also contribute to the functioning of the skin barrier. Since we know that the route from identification to the registration of drugs is long and expensive, PPAR-γ agonists already approved for other diseases may also represent a high interest for psoriasis. In this review, we discuss the role of PPAR-γ in the activation, differentiation, and proliferation of skin and immune cells affected by psoriasis and in contributing to the pathogenesis of the disease. We also evaluate whether the agonists of PPAR-γ may become one of the therapeutic options to suppress the inflammatory response in lesional psoriatic skin and decrease the influence of comorbidities associated with psoriasis

Polymorphic variants of the cholecystokinergic system genes: associations with panic disorders

Panic disorder is a widespread socially significant disease, which genetic nature is extremely poorly known. The gene of this neuropeptide (CCK) and its receptors (CCKAR, CCK2R) have being actively studied since the discovery of panicogenic properties of cholecystokinin. The purpose of this work was to estimate the degree of incidence of seven single nucleotide substitutions in the CCK, CCKAR and CCKBR genes in the population of patients diagnosed with panic disorder and a control population consisting of unexamined residents of the Moscow region. A significant increase in the degree of incidence of the T allele of the single nucleotide substitution 109C/T (rs1805000) in the CCKBR gene was identified in the patient population as compared with the controls, prompting suggestions that this substitution is involved in the aetiology of panic disorder. It also demonstrated the association of the combination of alleles -36T CCK, -128T CCKAR (rs11571842 and rs1800908, respectively) with the development of a panic disorder