卷 12, 编号 2 (2021)

Background. Inflammatory cytokines and growth factors are involved in various mechanisms of coronary artery disease. Clinical studies have shown the correlation between the increase in the level of proinflammatory cytokines and the severity of coronary artery disease, while the data on the role of proinflammatory interleukin IL-8 and anti-inflammatory interleukin IL-4 are contradictory.

The aim of the study is to assess the levels of proinflammatory cytokines (IL-8, TNF-α) and anti-inflammatory interleukin (IL-4) in patients with various forms of coronary artery disease who underwent coronary artery stenting.

Materials and methods. By the method of enzyme-linked immunosorbent assay, the levels of cytokines were determined in 30 patients with acute coronary syndrome who underwent primary stenting of the coronary arteries and in 24 patients with chronic coronary syndrome who had previously had myocardial infarction with stenting of an infarction-associated artery, who were admitted to the clinic for staged stenting of the coronary arteries.

Results. In patients with chronic coronary syndrome the levels of IL-4 a do not exceed the reference values, in patients with acute coronary syndrome the levels of IL-4 there was an increase 3,70 ± 0,24 and 240,85 ± 49,25 pg/ml, р ≤ 0,001. In patients with chronic coronary syndrome the levels of IL-8 a do not exceed the reference values, in patients with acute coronary syndrome the levels of IL-8 there was an increase 7,34 ± 1,29 and 110,33 ± 27,67 pg/ml, р ≤ 0,001.

Conclusion. Most likely the increase in the level of IL-4 has a compensatory character and, along with a slight increase in TNF-α, can be considered as a positive factor stabilizing the course of the disease. There may be some relationship between of the increase in the level of interleukins in patients with acute coronary syndrome on the degree of stenosis of the coronary arteries (90–95%) and impaired myocardial contractility was established.

The aim of the study was a comparative characteristic of the size of internal organs according to ultrasonography data in subjects with various deviations in stature, determined using international standardized norms.

Materials and methods. The stature was measured in 93 adolescents, aged 13 to 17 years. Based on the measurements, the Z-score of body length was calculated according to the WHO Growth Reference, 2007 and three groups were formed for comparing the sizes of internal organs: “average”, “above average”, “below average”. Ultrasonography data of the internal organs dimensions and thyroid gland was performed using a Toshiba Aplio 500 ultrasound scanner.

Results. There were statistically significantly lower values of the liver span and the longitudinal size of the gallbladder in the examined subjects from the “below average” group compared to the rest of the subjects. The length of the spleen and the total volume of the thyroid gland were statistically significantly different in subjects from all three groups, with the highest values in volunteers from the “above average” group. A weak direct correlation was shown between the Z-score of body length and liver span, the length of the cauda of the pancreas, and the width of the spleen. An average direct statistical relationship was found between the Z-score of stature and the length of the spleen, as well as the total volume of the thyroid gland.

Conclusion. To a greater extent, body length is associated with the size of the parenchymal organs with a pronounced connective tissue frame - the liver and spleen, as well as the thyroid gland due to the relationship of its volume with hormones that regulate growth and development. Clinical substantiation of the relationship between the structure of the body and internal organs opens up the possibility of creating anatomical standards that allow ultrasound morphometric assessment of internal organs, taking into account the individual characteristics of the patient’s body size.

研究现实性。目前，围产期医学领域的发展旨在提高新生儿，特别是早产儿的医疗质量。早产儿最容易出现出血性疾病，这往往会加重他们的病情，并决定高发病率和死亡率。现代血液学分析仪已经能够评估包括血小板参数在内的大量血液参数，然而，仍有少数研究致力于早产儿血小板参数的研究。本研究的目的是研究极低体重和超低体重早产儿血小板的形态功能特征。

材料与方法。这项研究包括78名在妊娠25–34周出生的体重低于1500克的新生儿。在生命的第3–5天，使用西门子Advia 2120i血液分析仪进行临床血检，测定血小板参数：PLT，×103 cells/ml；PCT，%；PDW，%；Large Plt，×103 cells/ml；MPC，g/dl；MRM，pg。

结果。在体重极低的新生儿中，血液中血小板的数量和粒度减少，血小板的平均干质量增加。胎儿宫内发育迟缓的新生儿血小板计数减少，血小板压积降低。孕周为25–27周的早产儿血小板血循环量减少，孕周为32–34周的新生儿血小板血循环粒度增加。在对新生儿呼吸窘迫综合征缺乏产前预防的情况下，血小板压积（血小板数量，包括血液中的大型血小板）会下降。在严重窒息状态下出生的早产儿中，血小板粒度显著降低。在呼吸治疗期间使用高浓度的O2在氧空气混合气会导致血液中血小板数量的减少。

结论。决定早产儿血小板形态功能状态的因素已经确定：产前对新生儿呼吸窘迫综合征的全程预防，孕龄，出生时窒息的严重程度，以及呼吸治疗期间使用的氧空气混合气中的O2浓度。体重极低的新生儿血液中的血小板数量减少，血小板颗粒低，血小板平均干质量增加。患有宫内发育迟缓的新生儿血液中的血小板和血小板压积降低。揭示的血小板形态功能特征将使能够明确早产儿止血时血小板连接改变的性质，以便及时预防潜在疾病期间的并发症。

Endocrine diseases such as obesity, diabetes mellitus, Cushing’s syndrome, hypothyroidism and hyperthyroidism, acromegaly and hyperandrogenism in children and adolescents are often manifested by changes in the skin. Moreover, skin symptoms can be a marker of systemic, in this case, endocrine and metabolic diseases. Obesity and diabetes are chronic diseases that affect people all over the world, and their incidence is increasing in both children and adults. Clinically, they affect a number of organs, including the skin. The cutaneous manifestations caused or aggravated by obesity and diabetes are varied and usually bear some relation to the time that has elapsed since the onset of the disease. They include acrochordons, acanthosis nigricans, striae, xerosis, keratosis pilaris, plantar hyperkeratosis, fungal and bacterial skin infections, granuloma annulare, necrobiosis lipoidica. In obese patients, psoriasis and atopic dermatitis are more common than in the control group. With the pathology of the thyroid gland, diseases such as alopecia, pretibial myxedema, urticaria, and some others develop. Hyperandrogenism (polycystic ovary syndrome) is accompanied by skin lesions such as acne vulgaris, hirsutism, androgenic alopecia, acanthosis nigricans. This literature review focuses on the main skin syndromes accompanying endocrine pathology in children and adolescents. Information about such clinical associations can make it easier for pediatricians and endocrinologists to diagnose and treat endocrine diseases in a timely manner and, thereby, prevent long-term adverse consequences.

The classification and epidemiology of hereditary metabolic disorders are presented. That is a large group consisting from more them 800 monogenic diseases, each of which caused by inherited deficiency of certain metabolic fate. Many of these disorders are extremely rare, but their total incidence in the population is close to 1:1000–5000. Lysosomal storage diseases (LSD) resulting from inherited deficiency in lysosomal functions occupy a special place among hereditary metabolic disorders. The defects of catabolism cause the accumulation of undigested or partially digested macromolecules in lysosomes (that is, ‘storage’), which can result in cellular damage. About 60 diseases take part in this group with total incidence of about 1:7000–8000. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most of them have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. The etiology and pathogenetic aspects of their main clinical entities: mucopolysaccharidosis, glycolipidosis, mucolipidosis, glycoproteinosis, etc, are presented. Mucopolysaccharidoses caused by malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans are more frequent among LSD. Sphingolipidoses caused by defects of lipid catabolism are second for frequency group of LSD. The state-of-art in field of newborn screening. clinical, biochemical and molecular diagnostics of these grave diseases are discussed. The main directions of modern lysosomal storage diseases therapy are characterized: transplantation of hematopoietic stem cells; enzyme replacement therapy; therapy with limitation of substrate synthesis (substrate-reducing therapy); pharmacological chaperone therapy. Perspective directions for LSD therapy are gene therapy and genome editing which are at advanced preclinical stages.

主静脉发育不良（DMV）是由描述这种病理的作者所知道的，即Klippel-Trenaunay综合征。在作者的经典描述中，Klippel-Trenaunay综合征的临床表现以三联征为特征：血管斑，非典型静脉曲张，软组织和骨骼肥大，患肢体积和长度增加。需要强调的是，这些症状的严重程度主要取决于病变的类型（胚胎或胎儿）和病变的严重程度。Klippel-Trenaunay综合征几乎总是散发性的，这意味着它在没有家族疾病史的人中发展。研究表明，这种情况是基因突变的结果，不是遗传的。这些被称为体细胞突变的基因变化，在出生前的早期发育阶段，在一个细胞中随机发生。Klippel-Trenaunay综合征可由PIK3CA基因突变引起。本文报道临床观察— 一周岁儿童的病程，主静脉发育不良，症状极为严重。在目前的临床观察中，在以慢性疾病为主的背景下，有必要注意该患者的治疗难点。这些病人的治疗应在多学科医院进行，包括血管外科专家、整形外科医生和重症监护医生。以所述病例为例，说明了诊断策略和手术治疗。对大静脉发育不良患儿进行及时的病理手术和保守治疗，可以提高患儿的生活质量和社会适应能力。