Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome

The review describes the clinical, biochemical and molecular genetic characteristics of autosomal recessive mucopolysaccharidosis type III, or Sanfilippo syndrome. This is a genetically heterogeneous group of rare, but similar in nature, diseases caused by a deficiency of one of the four lysosomal enzymes involved in the degradation of heparan sulfate. All types of mucopolysaccharidosis III are characterized by severe degeneration of the central nervous system in combination with mild somatic manifestations, which is explained by the accumulation of high concentrations of heparan sulfate in the lysosomes of various cells, including the central nervous system. The primary biochemical defect in the most common type of mucopolysaccharidosis IIIA, occurring with a frequency of 1 : 105 and presented in 60% of all cases of the disease, is heparan-N-sulfatase, or sulfamidase deficiency. Mucopolysaccharidosis IIIB type occurs twice less often and accounts for about 30% of all cases of Sanfilippo syndrome. It is caused by the presence of inactivating mutations in the lysosomal -N-acetylglucosaminidase gene. Mucopolysaccharidosis IIIC and IIID are 4% and 6%, and occur at frequencies of 0.7 and 1.0 : 106. Mucopolysaccharidosis IIIC is caused by inactivating mutations in the gene of membrane-bound lysosomal acetyl-CoA:-glucosaminid-N-acetyltransferase, or N-acetyltransferase. Mucopolysaccharidosis IIID is based on the deficiency of lysosomal N-acetylglucosamine-6-sulfatase. The role of experimental models in the study of the biochemical basis of the pathogenesis of Sanfilippo syndrome and the development of various therapeutic approaches are discussed. The possibility of neonatal screening, early diagnosis, prevention and pathogenetic therapy of these severe lysosomal diseases are considered. As an example, a clinical case of diagnosis and treatment of a child with type IIIB mucopolysaccharidosis is presented.

Strain diversity and antibiotic-sensitivity of staphylococcus spp. Isolates from patients of multiprofile pediatric hospital in St. Petersburg, Russia

Background. Staphylocci are the leading pus-forming Gram-positive bacteria in the childrens hospitals. The prevalence of the antibiotic resistant strains among them limits therapeutic effects of infections in children. Aim. The research is aimed at characterizing the species of staphylococcus, which are isolated from the different clinical specimens of the patients at the clinics of Saint Petersburg State Pediatric Medical University in 2019, and analysis of their susceptibility to antimicrobial agents. Materials and metods. According to the clinical recommendations of 2018, susceptibility to antimicrobial drugs (AMD) was revealed in 860 strains of staphylococci determined by the disc diffusion method, which were identified by the automated analyser Vitek-2 compact. Results. Six species of staphylococci were represented at the hospital departments, among which Staphylococcus epidermidis prevailed in the departments of the neonate pathology department and intensive care units (63.0% and 46.2% respectively), Staphylococcus aureus is commonly found at the departments of surgery and the departments of the therapeutic profiles (61.7% and 46.2% respectively). More than a half of the staphylococci strains (63.0%) were resistant to at least one of the antimicrobial drugs. Vancomycin and line solid showed the highest activity to these staphylococci. High specific weight of multidrug resistant (MDR) bacteria (37.8%) and extensively drug resistant (XDR) strains of the phenotype (33.0%) was revealed. The level of antibiotic resistant strains was the highest in Staphylococcus haemolyticus (98.1%) and S. epidermidis (82.0%), while the specific weight of the resistant ones, MDR and XDR strains was extremely low among S. aureus (16.2%, 1.5% and 0.4 respectively), as well as in methicillin-resistant isolates (0.8%). Conclusions. A great variety of antibiotic resistance was revealed among the staphylococci. The prevalence of these strains in the pediatric hospitals requires constant local monitoring of the antibiotic resistant staphylococci.

The role of lectures in the modern educational space

This article presents the authors personal views on the role, the place and the forms of lecture teaching of the morphological disciplines at the medical universities. Historical analysis shows that lecture has traditionally been the leading form of a university education. At the same time, the increasing requirements for the quality and efficiency of the modern educational process, the intensive intercalation of computer technologies in education and medicine raise the question of the preferred methods of conducting this type of classes. In addition, the difficult epidemiological situation, that is observed today around the world, has made its own adjustments to this discussion. The article provides a comparative overview of the various forms of presentation of lecture material (face-to-face lectures, online lectures in synchronous and asynchronous versions), and details the advantages and the disadvantages of each of them. Evaluating the positive and the negative aspects of the remote lectures, we can say that this format is not perfect for studying at a medical university. Moreover, it is not suitable for giving lectures on human anatomy because their demonstrativeness suffers. A lecture is a parade of a department, noticed the academician of the USSR Academy of Medical Sciences V.N. Shevkunenko. It can give an ability for a creativity, a lifeline in the process of a powerful flow of information to a student, select the most useful and necessary things, promote the development of а professional competence, help to find guidelines, life values and meanings. All this can be fully implemented only with live communication in а lecture audience, which is the secret of the longevity of a lecture.

Estimation of the proportionality of the physical development of children of the Khanty-Mansiysk autonomous district – Yugra with non-differentiated connective tissue displasion

Background. Assessment of the physical development of children in individual regions of the Russian Federation does not lose its relevance and requires constant updating, in this regard, it is important to study it in children adapting to the climatic and geographical conditions of the North, as well as the effect of undifferentiated connective tissue dysplasia on it. Aim. Aim of the study is to study the gender and age characteristics of the proportionality of physical development in children with undifferentiated connective tissue dysplasia living in the Khanty-Mansiysk Autonomous Okrug Yugra. Materials and methods. The analysis of physical development of 528 children of the second childhood and adolescence, living in the Khanty-Mansi Autonomous Okrug Yugra, was carried out. The study group consisted of 342 children (248 boys and 94 girls) with a diagnostically significant number of undifferentiated connective tissue dysplasia symptoms (from 6 to 18 stigmas). The comparison group included 186 children (111 boys and 75 girls) who did not score a significant threshold of phene signs (from 0 to 5 stigmas). Physical development was assessed according to the Quetelet II weight-height index, chest-weight indices: Pignet, Vervek, and Brugsch, as well as proportionality indices: sternum, shoulder width, pelvic width, torso shape, arm and leg length indices, cranial and facial indices, interorbital-circular index. Results. Children without undifferentiated connective tissue dysplasia during the second childhood have a tendency to malnutrition, and are characterized by a weak physique with a tendency to narrow chest. In adolescence, the tendency towards weakness of the physique persists, while height-weight ratios deviate towards normotrophy. Children with undifferentiated connective tissue dysplasia during the second childhood and adolescence have a rectangular or trapezoidal body with an average length, as well as long upper and lower limbs relative to the length of the body. Conclusion. The impact of the socio-ecological factors of the North neutralizes the differences in the rates of physical development in healthy children and persons with disorders caused by congenital disorders of organogenesis of the undifferentiated connective tissue dysplasia type.

Rates of overweight and obesity in children and adolescents in St. Petersburg: assessment of the risks of developing metabolic syndrome

Background. It is known that the earlier a persons body weight exceeds the normal range, the metabolic disorders associated with obesity will form at an earlier age. The progressive increase in the prevalence of obesity and metabolic syndrome in different countries is primarily associated with the so-called human risk factors, which include: physical inactivity, excessive consumption of food rich in fats and carbohydrates, stress, smoking. In this regard, it is extremely important to regularly monitor the body weight of children and adolescents in order to early identify a tendency to increase body weight for the making recommendations for maintaining weight within the normal range. Aim. To evaluate the frequency of obesity and overweight in children, adolescents and adults from among the residents of St. Petersburg, to conduct a comparative assessment of the data obtained. Materials and methods. The work was attended by students of St. Petersburg schools (children and adolescents) and patients (adults) who are being treated in St. Petersburg State Medical Institution Elizavetinskaya Hospital. The sample was random: when collecting data from children and adolescents, data from one of the classes in each parallel from 4th to 11th grade were taken into account, when collecting data from adults 2 people from each ward of the gastroenterology department of the St. Petersburg State Medical Institution Elizavetinskaya Hospital. Data collection was carried out in the period: AugustDecember 2020. Statistical processing was performed out using the computer software package SPSS 8.0. Estimation of anthropometric parameters (age, body weight, height) and calculation of body mass index (BMI) were performed in 74 children (age 912 years), 137 adolescents (age 1318 years) and 55 adults (mean age 49.12 17.03). Results. An increase in body weight was detected in 6.8% of children (5.4% overweight and 1.4% obese of the 1st degree), 14.6 % of adolescents (11.7% overweight and 2.9% obese of the 1st degree) and 62% of adults (36% overweight, 13% obese of the 1st degree, 7% obese of the 2nd degree, 6% obese of the 3rd degree). During the correlation analysis, it was observed that the proportion of overweight people in the observed age categories increased with age (p 0.05). Conclusions. Overweight and obesity begin to be detected already in children, in a fairly large percentage of cases already occur in adolescents and are observed in more than half of the adults surveyed in St. Petersburg. Therefore, it is necessary to carry out activities among parents of preschoolers and schoolchildren, as well as, if possible, the children themselves, to form motivation to maintain a healthy lifestyle in order to prevent the early development of overweight.

Transpiloric feeding in gastroesophageal reflux in neonatology

Optimizing nutritional support is essential for critically ill children, and premature infants are particularly vulnerable to the effects of prolonged fasting. There is a lot of evidence in the scientific literature for the benefits of enteral nutrition. It is known that premature babies need an individual approach to nutrition due to the prevalence of catabolic processes, while treatment in the intensive care unit requires a surplus of calories. Timely introduction of enteral nutrition helps to reduce morbidity and mortality in this population. Gastroesophageal reflux is common in preterm infants. When there is a decrease in tolerance to enteral feeding, doctors usually prefer parenteral nutrition. However, its use can be associated with metabolic, infectious and iatrogenic complications. A step-by-step therapeutic approach is recommended in the treatment of GER in preterm infants. Conservative treatment should be considered as first-line therapy in children without clinical complications. Feeding through a gastric tube is not always well tolerated by seriously ill people patients. As for the treatment of complicated GER, extensive studies show that the use of transpiloric feeding is comparable in effectiveness to fundoplication. Transpiloric feeding tube can be justified as a strategy for treating GER that is refractory to conservative therapy.

Homeostasis and adaptation: pathophysiological aspects of somato-vegetative interaction in ontogenesis

The review presents information on the somatovegetative interaction of blood circulation and respiration from the point of view of the views of Professor Yu.P. Pushkarev. Data are presented that speak of the complexity and complexity of the problem of homeostasis and adaptation, the unresolved many issues that are important for understanding the stability of the internal environment of the body and establishing the limits of the norm. It has been shown that within the neurohumoral system of the body, the interaction of various components of functional systems is constantly carried out, ensuring the conjugation of respiration and blood circulation with the formation of intersystem links. Some aspects of the formation of functions in animals and humans in postnatal ontogenesis are considered. It is emphasized that homeostasis is an internal balance of indicators in the body, but its values are constantly changing due to the center-peripheral integration of functions. It was emphasized that the process of achieving a beneficial adaptive result is characterized by the asymmetry of physiological indicators, and the intersystem interaction ensures the balancing of homeostasis constants in terms of adaptation to environmental conditions. It has been shown that over-threshold environmental influences and homeostasis parameters shift in the body, compensatory-adaptive reactions occur, aimed at maintaining a certain level of stationary state, eliminating or limiting the effect of the harmful factor and optimizing the interaction of the organism and the environment due to the formation of intersystem links. Analyzed the pathophysiological mechanisms of changes in function in certain diseases and stress effects. It is shown that the further study of the somatovegetative interaction in the context of the ideas of Yu.P. Pushkarev will allow revealing the true mechanisms of synchronization of functions in the organism of animals and humans in order to understand its existence as an independent self-regulating system.

Kawasaki-multisystem inflammatory syndrome in children in the delayed period of coronavirus infection (covid-19): modern state of the problem and possible new approaches to treatment (plasmapheresis)

COVID-19 infection usually occurs in children in a mild form, but some of them in a delayed period (one or several weeks after acute infection with COVID-19) may develop a severe inflammatory disease with clinical manifestations similar to toxic shock syndrome (Kawasaki disease), classified as multisystem inflammatory syndrome in children (MISC). It is possible that the syndrome has only a temporary connection with the COVID-19 infection. In the future, new associations of such clinical manifestations with other infectious (or non-infectious) diseases may appear. But currently, all children in the described cohorts with MISC have an association with COVID-19 infection. It is believed that the syndrome is initiated by an excessive adaptive immune response with the formation of autoantibodies. Treatment is based on anti-inflammatory, including steroid therapy, the possible use of intravenous immunoglobulin, aspirin, interleukin 1 and 6 receptor antagonists. The article analyzes current views on Kawasaki-multisystem inflammatory syndrome in children in the delayed period of COVID-19 coronavirus infection in the aspects of diagnosis, pathogenesis, clinical manifestations (with a discussion of foreign and Russian studies) and approaches to therapy and possible prevention, including the possibility of using plasmapheresis in complex therapy.

Hyperekplexiа. Clinical observation

The differential diagnosis of paroxysmal conditions, as well as disorders of muscle tone (hypertension) in the neonatal period and in young children is quite complicated. Various states of the nervous system in newborns are transient and permanent, optimal and suboptimal, normal and pathological. Among them, we can mention non-epileptic paroxysmal states of early childhood. In some cases, non-epileptic paroxysmal states of early childhood is accompanied by motor disorders, manifested by an excessive increase in limb tone in newborns. This pathological condition of muscle tone in the English-language literature is referred to by the term stiffness baby (the syndrome of a rigid or fettered baby). Neonatal pathological muscle hypertonicity, unlike physiological hypertonicity of muscles of a newborn, is a rather rare condition. The article presents literature data and a description of the clinical observation of a patient with hyperekplexia. Hyperekplexia is a rare paroxysmal movement disorder in young children. The main clinical variants of the disease, methods of diagnosis and correction, the main mutations associated with this condition are considered. The article describes the own clinical observation of an early-age patient with hyperekplexia, its clinical picture, features of paroxysmal states and therapy, neuroimaging data, electroencephalographic phenomena recorded in the patient and genetic testing that confirmed the diagnosis of non-epileptic paroxysmal disorders. The child has a mutation in the ATAD1 gene associated with type 4 Hyperekplexia (618011).

Method for assessing the sublingual immunotherapy with house dust mite allergens effectiveness in children with bronchial asthma and allergic rhinitis

Background. For practical health care, tools for assessing the effect of allergen-specific immunotherapy have not been developed. Aim. Approbation of the system for evaluating the effectiveness of sublingual immunotherapy with house dust mite allergens in patients with bronchial asthma with allergic rhinitis. Materials and methods. 28 cases of sublingual immunotherapy treatment in patients aged 5 to 13 years, (8,6 [6,7; 11,6]) with control in pairs-copies matched by age, sex, and asthma severity were analyzed. Thus, the study included 56 patients. Patients in the control group did not receive sublingual immunotherapy. For 1 year before the start of treatment, and for the first year of treatment, the complex of clinical signs of bronchial asthma and allergic rhinitis, the need for basic and emergency therapy was assessed. The scores were calculated for symptoms, for drugs, and a total Score of symptoms and drugs. Results. During 1 year of therapy, patients showed dynamics of the total Score from 23,32 1,21 points to 16,21 1,77 in the main group, and from 23,99 1,2 points to 20.92 2.09 in control group (p = 0.028). The greatest difference was found within medication domain. Conclusion. The developed system for assessing the symptoms and the need for medications makes it possible to show the difference between groups of patients, in favor of the sublingual immunotherapy group. For 1 year of sublingual immunotherapy therapy, a difference in the total Score dynamics and the domain of drugs was revealed between the groups. The proposed assessment system is recommended for further investigation.