Vol 13, No 4 (2022)

The epidemiology, clinical biochemical and molecular genetic characteristics of glycosphingolipidoses with impaired metabolism and excessive accumulation in parenchymal organs, bone and brain not only of sphingolipids, but also free cholesterol are presented. First of all, it is sphingomyelin lipidosis, or Niemann–Pick disease, a clinically polymorphic and genetically heterogeneous group of rare monogenic diseases. Types A and B, which differ in onset and severity, are allelic diseases and are caused by the presence of recessive mutations in the lysosomal acid sphingomyelinase (SMPD1) gene. Type A is a classic acute neuronopathy, which starts in 85% of cases before 6 months, death occurs before the age of 3 years. The cause of the disease is mutations with premature termination of translation or severe impairment of the catalytic activity of the enzyme. In type B, missense mutations are more common. This is a chronic visceral form, in which neurological symptoms are usually absent, and patients survive into adolescence. Juvenile and adult forms of chronic neuronopathy type C are genetically heterogeneous. In 95% of cases they are caused by mutations in the NPC1 gene (type C1) and in 5% — in the NPC2 gene (type C2). The products of these genes are transmembrane proteins responsible for the transport of cholesterol and other lipids. Cholesterol ester storage disease, or Wolman disease, is caused by hereditary deficiency of lysosomal acid lipase A. The possibility of early diagnosis of these diseases based on neonatal screening is discussed in order to increase the effectiveness of their prevention and treatment. The importance of experimental models for studying the molecular basis of the pathogenesis of these severe hereditary diseases and developing various therapeutic approaches, such as bone marrow transplantation, enzyme replacement therapy, and substrate-reducing therapy, is emphasized. A clinical example of Niemann–Pick disease type C is presented.

BACKGROUND: Chorioamnionitis, or intra-amniotic infection, is an infection of the membranes and amniotic cavity caused by polymicrobial associations, including Streptococcus agalactiae (SGB), predominantly localised to the lower genital tract of women. The colonization of a infant with GBS occurs as a result of ascending infection from the mother, in the intranatal period during passage through the natural birth canal of the mother. Colonization of the skin and mucous membranes of the infant in the vast majority of cases proceeds without the clinical implementation of the infectious process, only 2-5% of infected newborns develop an infection associated with GBS.

AIM: The aim of the study is to investigate the vaginal and uterine microflora in women with chorioamnionitis and to determine the degree of neonatal colonization.

MATERIALS AND METHODS: A microbiological examination was undertaken in 113 mother–child pairs. Main group (group I): pregnant women with full-term pregnancy (≥37 weeks’ gestation) who were diagnosed with clinical chorioamnionitis and prescribed antibacterial agents, and their newborns (n = 77). Comparison group (group II): 36 pregnant women without clinical chorioamnionitis with a gestational age of ≥37 weeks’ gestation and their newborns with a physiological course of the early neonatal period. Clinical specimens: secretions from the posterior vaginal fornix and the inner surface of the uterine wall at surgical delivery in women in labour with clinical signs of chorioamnionitis (group I) and without clinical manifestations of chorioamnionitis (group II). Material was obtained at the height of body temperature in group I and during the 1^st period of labour in group II. The clinical materials were umbilical cord blood, skin surface of the occipital fold, discharge from the cavity, and discharge from the tracheobronchial tree (in case of respiratory therapy with ventilator therapy).

RESULTS: At bacteriological examination in women of Group I the frequency of microorganism isolation from the vaginal discharge was: Enterococcus faecalis — 31.8%, S. agalactiae (SGB) — 30.3% and Escherichia coli — 24.2%. The proportion of SGB at 10⁶ CFU/ml was 70%. The proportion of E. coli at 10⁶ CFU/ml was 75% and that of Candida albicans 72%. Among microorganisms isolated from the uterine cavity, the proportion of SGB at 10⁶ CFU/ml was 60%, E. coli 100%. Bacteriological testing of the examined children showed that S. agalactiae (SGB), E. faecalis and E. coli were isolated from almost all neonatal loci studied. Comparative studies have shown that the colonisation of newborn infants was most frequently caused by S. agalactiae (SGB), E. faecalis and E. coli. The frequency of maternal transmission of these organisms to the foetus and the newborn is 100% for S. agalactiae (SGB) and 18–50% for E. faecalis and E. coli. In all examined children of the main group and with the presence of S. agalactiae (SGB) in the uterine cavity of their mothers (n = 5), these microorganisms were isolated from different loci (in all cases from the skin surface of the auricular fold and from oral discharge, and in three cases from umbilical cord blood), but clinical manifestations of the infection process did not develop in any child.

CONCLUSIONS: Despite antibiotic therapy for chorioamnionitis in women, the incidence of micro-organism isolation from both the vagina and the uterine cavity remains high. In most cases, newborns from mothers with chorioamnionitis colonised with micro-organisms, including S. agalactiae (SGB), do not develop a clinical picture of an infective process. Further research is needed to develop preventive measures in terms of perinatal and neonatal infections.

BACKGROUND: There is information in the literature about the effect of connective tissue dysplasia (СTD) on the course of many somatic diseases. The role of СTD in the development of chronic pyelonephritis (СhPN) is presented differently to different authors, which is why it became necessary to conduct this study.

AIM: The aim of the work is to evaluate the effect of СTD on the course and manifestations of chronic secondary pyelonephritis in children.

MATERIALS AND METHODS: 142 children from 6 to 17 years old with СhPN were examined. They were divided into 2 groups: the 1st group included 108 children with manifestations of СTD, including 41 people with СTD of the 3^rd degree and 67 people with СTD of the 2^nd degree; group 2 — 34 patients without СTD. The groups were comparable in gender and age. The examination was carried out according to the standards for patients with ChPN. Signs of СTD were evaluated by the method of T.I. Kadurina.

RESULTS: Obstructive and mixed variants of СhPN are typical for children with СTD. In most patients, the disease manifested at 1–2 years of life; at school age the first signs of the disease occurred mainly in children without СTD with dysmetabolic disorders. Relapses of СhPN in children with СTD occurred 1.5 times more often during the year and 2,1 times more often during 5 years of follow-up. Patients with СTD are characterized by a wider range of pathogens, anemia, a high incidence of structural abnormalities and urodynamic disorders, a tendency to form foci of nephrosclerosis. The need for surgical treatment in the presence of СTD increases in patients with СhPN by 4.6 times, including in repeated and radical operations. In children with grade 3 СTD, all these signs are more represented.

CONCLUSIONS: СTD affects the course and manifestations of СhPN in children, creating an unfavorable background. It seems promising to study the role of СTD in the occurrence of anemia in children with СhPN.

The review presents meta-analyses and original studies data of severe outcomes of COVID-19 infection in patients with chronic obstructive pulmonary disease.

The main risk factors for the severe course of COVID-19 in many studies have been identified as follows: age over 65 years, chronic lung diseases, systemic arterial hypertension, cardiovascular diseases, diabetes mellitus, immunosuppression, chronic kidney and liver diseases. It was shown that patients with concomitant respiratory diseases were 4.2 times more likely to have a severe course of COVID-19 (OR 4.21; 95% CI 2.9–6.0), especially in patients with chronic obstructive pulmonary disease (OR 5.8, 95% CI 3.9–8.5). Patients with bronchial asthma also more often received mechanical ventilation (OR 1.58; 95% CI 1.02–2.44; p = 0.04), treatment in intensive care units (OR 1.58; 95% CI 1.09–2.29; p = 0.02), had longer hospital stays (OR 1.30; 95% CI 1.09–1.55; р < 0.003) and higher mortality (OR 1.53; 95 % CI 1.01–2.33; p = 0.04) compared with COVID-19 patients without asthma or other chronic obstructive pulmonary diseases. Another factor contributing to severe outcomes of COVID-19 is tobacco use, which increases the risk of severe disease, hospitalization and poor outcomes.

Patients with chronic obstructive pulmonary diseases, especially smokers, were more likely to have a severe COVID-19 and adverse outcomes of this disease, which must be taken into account when prescribing treatment for coronavirus infection.

Pleuropulmonary blastoma is a very rare primary fetal tumor of the lung and pleura in young children and is associated with a mutation in the DICER1 gene. Based on the histological picture, three types of this tumor are distinguished: cystic (type I), solid cystic (II), solid (type III). Treatment is surgical followed by polychemotherapy. The prognosis is unfavorable.

The authors bring to the attention of colleagues a description of a clinical case of pleuropulmonary blastoma in an 8-year-old child, diagnosed against the background of an acute respiratory viral infection. He fell ill acutely with a rise in temperature and an unproductive cough. The condition was regarded as a course of an acute respiratory viral infection, symptomatic therapy was carried out. After 8 days from the onset of respiratory viral infection, there is a sharp deterioration in the condition in the form of shortness of breath, refusal to eat and drink, and weakness. The child is hospitalized in a Central District Hospital, differential diagnosis with pneumonia is carried out. According to the examination (plain radiograph and CT scan of the chest), a large volumetric formation with even contours is visualized in the right lung. The patient is transferred to a specialized hospital in St. Petersburg. After an MRI of the chest organs with contrast, taking a biopsy material and performing a histological examination, the patient was diagnosed with a tumor of the right lung — pleuropulmonary blastoma type II.

This clinical case of a rare malignant tumor in an 8-year-old child with congenital heart disease and cerebral palsy may demonstrate a severe variant of systemic connective tissue dysplasia and gene mutation.

Congenital heart disease is considered to be one of the most common diseases among congenital defects. Aortic coarctation belongs to the groupof common congenital heart defects. In the overwhelming majority of cases, it is combined with hypoplasia of the aortic arch and requires urgent surgical intervention. The absence of timely diagnosis of pathology and necessary therapy may lead to congestive heart failure, cardiogenic shock and death. Although the results of treatment of congenital heart defects in newborns have improved significantly in recent years, children with low weight are remainedto be difficult category of patients. Prematurity and low birth weight are risk factors for increased mortality and development of recoarctation in infants who have undergone surgical correction. We represent the case of successful correction of aortic coarctation with hypoplasia of the distal aortic arch in a prematured baby with very low birth weight. The diagnosis was made prenatally. The mother was recommended to be monitored at Рerinatal Сenter, Penza, where at the 35^th week, an early delivery was performed because of lack of water and intrauterine fetal development delay. The body weight at birth was 1330 grams. On the same day, the child was admitted to the Federal Center of Cardiovascular Surgery, Penza, where he received the necessary surgical care. The results of dynamic observation of the patient showed the absence of recoarctation and arterial hypertension. Despite the fact that low body weight and prematurity are significant risk factors for complication and an unfavourable outcome, modern medical technologies and accumulated experience have allowed to carry out surgical correction timely and then to do successful postoperative treatment and nursing of the child with coarctation and hypoplasia of the aortic arch.

BACKGROUND: Relatives caring for an epilepsy patient play a significant role in the care system and maintaining the well-being of the chronically ill and often suffer from significant stress.

AIM: The aim of the study was to reveal the relationship of psychological distress, basic beliefs and perceptions of family relationships in relatives taking care of children and adults with epilepsy.

MATERIALS AND METHODS: The study involved 62 relatives caring for patients with epilepsy, 44 relatives of children (mean [±SD] age, 34,64 ± 6,73 years) and 18 relatives of adults (mean [±SD] age, 48,72 ± 10,99 years). The Symptom Checklist-90-Revised (SCL-90-R), the World Assumption Scale and the Family Environment Scale was used as an assessment tools. Also semi-structured interview for assessing socio-demographic and clinical characteristics was applied.

RESULTS: The results of the study revealed significant similarities of the studied groups both in the explication of the psychopathological symptoms and in perception of their own personality, the surrounding world and intra-family interaction. Informal caregivers of such patients demonstrates significant variability and severity of psychopathological symptoms. And their perception of themselves and the surrounding world is characterized by the “façade” tendencies that act as psychological protection that prevents the catastrophizing of the subjective assessment of the situation associated with the chronic disease of a loved one.

CONCLUSIONS: The study demonstrated the need to develop specialized psychotherapeutic interventions aimed at reducing the level of psychological distress in informal caregivers of patients with epilepsy. During the development and carrying out of such interventions, it is important to take into account the subjective assessment of caregiver’s available life situation, as well as his/her personal values and attitudes that largely determine the severity of psychopathological symptoms.