Vol 11, No 5 (2020)

Introduction. Small heart anomalies (SHA) are the morphological basis for functional changes in cardiac activity and can exacerbate the course of organic heart lesions. The most studied SHA include false chords of the left ventricle (FCLV) and mitral valve prolapse. Prevalence, association with external signs of dysembryogenesis, as well as the predictive value of SHA are not sufficiently studied.

Materials and methods. We examined 611 people between the ages of 18 and 23 (average age 20.3 ± 1.6 years), including 257 boys and 354 girls. All of the surveyed performed phenotypic, anthropometric and echocardiographic examinations. To identify the SHA links to heart rhythm disorders, the 205 surveyed performed Holter’s ECG monitoring.

Results. SHA identified in 90% of the individuals surveyed: atrial septum aneurysm (24%), tricuspid valve prolapse (23.4%), asymmetry of the aortic valve (20.6%), additional papillary muscles (39.4%) and FCLV (75,1%). Correlation analysis showed the presence of links between these SHA and bone signs of dysembryogenesis (chest deformities, arachnodactyllia, dolistennomely and high palate), as well as heart rhythm disorders (supraventricular and ventricular extrasystoles, rhythm driver migration and episodes of AV-blockade 1 degree). Patients with marfanoid habitus have a higher average number of SHA (2.1 ± 1.4 vs 0.9 ± 0.7, p < 0.005).

Conclusions. SHA are identified in the vast majority of healthy people. Bone signs of dysembryogenesis are associated with significant SHA and can serve as a marker for the involvement of the heart in the dysplastic process. Patients with SHA have significant cardiac arrhythmias.

The article is devoted to the analysis of mental, including speech, disorders among children in the villages of the Srednekolymsky ulus of the Republic of Sakha (Yakutia). The purpose of the survey was to analyze the diagnosed mental, including speech, disorders among the children of the villages of the Srednekolymsky ulus of the Republic of Sakha (Yakutia). 501 children aged 2 to 18 years were examined. Clinically significant disorders were detected in 187 children (37.4%). The structure of mental disorders is described: the first place is occupied by specific speech and language disorders (F80), the second is mental retardation (F83) and the third is mild cognitive impairment (F06.7). The data on the prevalence of mental disorders in various age groups are presented: most often, mental disorders occur in adolescence (51.0% of all examined children). Less disturbances are diagnosed in the early age group and the first period of childhood – 22.0% of all children examined. In the group of preschool age, speech disorders are in the lead, in the group of primary school age – mental retardation, speech disorders and mild cognitive impairment. In adolescence, a wide range of mental disorders is diagnosed, including adaptive reactions and eating disorders. Sexual differences in the nosological specificity of mental disorders were revealed: mental disorders prevail in boys. Speech disorders, stuttering, and behavioral disorders are significantly more common among boys. Among girls, adaptation disorders, emotionally labile disorders and eating disorders are significantly more common.

The review presents data on two similar granulomatous inflammatory diseases: tuberculosis and sarcoidosis of the lungs, which together cover about 5% of all pulmonary pathology, albeit occur with different incidence (20 : 1). Despite the established aetiology of tuberculosis, the disease has not disappeared and nowadays has even acquired a new urgency: It is getting out of control due to growing poverty, the comorbidity with HIV infection, increasing cases of drug resistance of Mycobacteria, insufficient effectiveness and the growing costs of its treatment. Against the background of the expansion of anthropogenic influences and other environmental impacts on the immune system, the incidence of lung sarcoidosis is also increasing, while patients are initially often misdiagnosed with tuberculosis, with resulting unjustified anti-tuberculosis chemotherapy, leading to chronization of the disease with frequent relapses and, accordingly, to an increase in disability and mortality rates. In recent years, clinical manifestations of sarcoidosis due to a variety of trigger aetiological factors with adjuvant-like action (from Mycobacteria to xenobiotics) – are considered by a number of authors as a variant of autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA). The article emphasizes the similarity of two granulomatous inflammatory diseases and the concept of two variants of the body’s response to similar or even identical aetiological factors within different human reactivity (possibly on a different mosaic/permissive background). In brief the newest data on experimental models of sarcoidosis are reviewed as well as the role of autophagy disorders and opposite macrophageal polarization in tuberculosis versus sarcoidosis. Authors coined the original hypothesis of the possible therapeutic effectiveness of Rapamycin in sarcoidosis and for the first time posed a question of equivocal character of comorbidity between these granulomatoses and COVID-19 infection.

Hemangiomas are the most frequent tumors of childhood age. In the first year of life their prevalence is 10–12%. Among premature children, the prevalence of hemangiomas correlates with the degree of prematurity. Liver hemangiomas are a wide range of benign vascular formations that can acquire both malignant course and capable of spontaneous regression. Small-sized hemangiomas generally do not require specific treatment and proceed asymptomally. Large-sized formations can cause life-threatening conditions such as severe thrombocytopenia with coagulopathy (Kazabah–Merrit syndrome), anaemia, tumor hemorrhage, spontaneous and traumatic tumor breaks, heart failure associated with intra-tumor bypass of blood flow, abdominal compression syndrome, severe hypothyroidism. Diagnosis of this pathology is carried out on the basis of a set of data of medical imaging, laboratory diagnostics and clinical picture. This review presents key points of general classification, the most characteristic diagnostic signs, as well as basic algorithms of treatment of liver hemangiomas in newborns and children of the first year of life. There are also described 2 clinical cases of newborns with giant liver hemangiomas, which were examined and treated in the pathology department of newborns and infants of Perinatal Center of St. Petersburg State Pediatric Medical University with a description of the peculiarities of the course of each of them.

The causes of dysuria can be different, moreover, cases of psychogenic dysuria are not casuistry in general medical practice. Such patients complain of increased urination (pollakiuria), urinary incontinence (enuresis), urinary retention, or loss of urination. As a rule, for the first time, such patients turn to a pediatrician (therapist), then to a urologist who, after a comprehensive examination, excludes any organic violation of the genitourinary system. Psychogenic dysuria can be noted in the structure of general neurosis, be a somatoform disorder, or be a neurotic (usually conversion) monosymptom. Hysterical (conversion) disorders, by definition, are not simulative, but manipulative, representing either a way to draw attention to your person, which is typical for females, or being a kind of unconscious way out of a hopeless – from the patient’s point of view – situation, as it was in this case. For the same reasons, the treatment of patients with hysteria remains one of the most difficult problems, requiring the involvement of a specialized specialist – a psychotherapist or psychiatrist. Integrative psychotherapy (rational, behavioral and suggestive) is quite effective here, however, long-term treatment is usually required to achieve a good effect. Which consists of consultation with confrontational and paradoxical techniques, and the way out of such a confrontation is usually the same behavioral therapy and 5–10 sessions of hypnotherapy. The given clinical example is of scientific and practical interest, since the full effect was achieved after the first consultation and one session of hypnotic suggestive therapy.

Various approaches and models of the concept of “mental health norm” are analysed: medical (biological), psychological, social normative, based on the principles of mechanistic determinism. As opposed to them, A.B. Cholmogorova advocates biopsychosocial models, which are based on a systemic approach. B.S. Bratus’ singles out the “statistical adaptation approach” and the “adoption of negative criteria of the norm” opposing it, as well as the “cultural relativistic and existential” approaches and the “descriptive criteria of mental health” opposing them. Searching for optimal criteria for the norms of mental development the HUMAN BEING is found to be in the centre of consideration as a result of cultural development in all its diversity: as an individual, personality, subject of activity, the integration of the variety of properties of which is expressed in individuality. The development of a human being within culture leads to the formation of a cultural consciousness, the main criteria of which are freedom, independence, creativity, self sufficiency and conscience. They can be considered as criteria for the normal course of a person’s mental development. An attempt to formulate psychological tools to achieve aims of the mental development of a human being has been made. At the level of individual-personality this role belongs to the directedness of the personality, expressing the relation of an individual to the aims of the activity. At the level of the subject of activity to the individual style of activity. The interaction of these key factors of the development of a human being ensures the internal unity of all levels of the organization of a human being, resulting in the concept of the “integrity of human being”, which fully expresses the psychological content of individuality the bearer of cultural consciousness.

The early years of human genetics in Russia were distinguished by a pronounced interest in eugenics, pioneering methodological achievements in human cytogenetics, systematic studies of the contribution of heredity to the development of multifactorial diseases, the physical and mental human characteristics. The vast scientific infrastructure in genetics that had developed by the mid-1930s was demolished in a series of political decisions beginning with the campaigns to eradicate eugenic ideas and ending with the notorious 1948 VASKhNIL session, which entailed a complete ban on the genetics. For almost 25 years, key to the development of this science throughout the world, its progress in Russia was first completely frozen, and then retarded profoundly. The revival of medical genetics went in different ways, by virtue of many prominent specialists in various fields of human genetics, formed before the era of repression. New scientific schools were founded by them and their disciples. Despite the enormous gap in the level of domestic and world genetics, which lagged even after the ban was lifted, a series of important works in the field of radiation mutagenesis, population genetics, cytogenetics, as well as a number of world class achievements in the field of biochemical genetics and the study of metabolic diseases, should be noted. Gradually, as the state recognized the importance of genetics for medicine, an extensive medical genetic service arose in the country’s healthcare system. The conditional point of the final “rehabilitation” of medical genetics can be recognized in the emergence of departments of this discipline in medical schools throughout the country in the late 1980s. Despite the gap, still persisting between the world’s level of medical genetic science and the current state of it in our country, this gap has significantly reduced nowadays.