![Open Access](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_open.png)
![Restricted Access](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_unlock.png)
![Restricted Access](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_lock.png)
Vol 14, No 3 (2023)
- Year: 2023
- Articles: 14
- URL: https://journals.eco-vector.com/pediatr/issue/view/7999
Editorial
Molecular genetic diagnosis and treatment of congenital hyperinsulinism: results of observation of patients with variants in the genes ABCC8 and KCNJ11
Abstract
Congenital hyperinsulinism is a rare hereditary disease characterized by inadequate hypersecretion of insulin by pancreatic β-cells, clinically manifested by persistent hypoglycemia, which poses a great threat to patient survival and a high risk of developing severe neurological complications.
The article presents the results of clinical, hormonal and molecular genetic examination and treatment of 10 patients with congenital hyperinsulinism caused by mutations in the genes of ATP-dependent potassium channels (KCNJ11, ABCC8), hospitalized in Saint Petersburg State Pediatric Medical University clinic in 2010–2023. In all the studied patients, the disease manifested from the 1st to the 3rd day of life, and the median age of diagnosis of congenital hyperinsulinism in the study group was 1 month (min 14 days; max 3 years 9 months). In 8 out of 10 patients, a severe course of hypoglycemic syndrome was noted at the onset of the disease. According to the molecular genetic investigation results, 8 different mutations were identified: in the KCNJ11 (2/8) and ABCC8 (6/8) genes. Identical variants were found in two pairs of related patients. In children with mutations in the ABCC8 gene (n = 8), 2 variants with unknown clinical significance were identified, which were not previously described in allelic databases and scientific literature. According to the analysis of anamnestic and clinical and laboratory data, 80.0% of children, including patients with new, previously not described in the scientific literature, variants in the ABCC8 gene have a severe progressive course of congenital hyperinsulinism, requiring the appointment of insulinostatic therapy.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Original studies
The role of the infectious factor in the genesis of perinatal losses in pregnant women who have birth in maternity hospitals in St. Petersburg and Leningrad Region in 2009–2018
Abstract
BACKGROUND: One of the tasks of modern medicine is to reduce the level of perinatal losses, for which it is necessary to know their main causes.
AIM: To determine the course of an infectious disease in the genesis of perinatal losses.
MATERIALS AND METHODS: In order to determine the role of infection in the genesis of perinatal losses, a retrospective study was conducted with two groups: the main group — 307 women with perinatal fetal death, the control group — 357 women without perinatal losses. An analysis was also made of the data of the statistical form No. 32 (annual) “Information on medical care for pregnant women, women in childbirth and puerperas”, presented by the Medical Information and Analytical Centers of St. Petersburg and the Leningrad Region for 2006–2018 and annual reports of the Leningrad Regional Pathological Anatomical Bureau for 2006–2016.
RESULTS: In 2006–2018, the leading causes of perinatal death were intrauterine hypoxia and asphyxia during childbirth (ICD 10: P20, P21), that is, not diseases, but symptomatic conditions. Such features of reporting documentation complicate the analysis of the causes of perinatal losses and the implementation of a set of preventive measures, including at the state level. Also, according to the official report, it is impossible to assess the contribution of a specific virus and a specific localization of the lesion to the genesis of perinatal losses. In the main group, hematogenous viral and ascending bacterial infection of the placenta was detected 4 times more often. With a combination of bacterial and viral infection of the placenta, the risk of a fatal outcome increases. Infectious pathogens most frequently encountered in perinatal losses have been established.
CONCLUSIONS: The cause of more than half of the cases of perinatal losses in women who gave birth in maternity hospitals in St. Petersburg and Leningrad Region in 2009–2018 is an infectious pathology: viral, bacterial and viral-bacterial, and not intrauterine hypoxia/asphyxia during childbirth, as stated by the official statistics. In this regard, the main direction in the prevention of perinatal losses is the timely detection and treatment of infectious pathology.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Expression of TSPO and HIF-1α genes as predictors of the organism’s resistance to hyperthermia
Abstract
BACKGROUND: One of the key transcriptional regulators that determine the body’s resistance to hypoxia is the hypoxia-inducible factor HIF-1α, the study of the role of which in the body’s resistance to extreme influences can justify new directions in medical technologies for its increase. The body’s resistance to hypoxia largely determines the resistance to other critically significant influences (hyperthermia, hypothermia, hyperbaria, ionizing radiation, chemicals, etc.). However, it was not possible to find a quantitative assessment of this effect in the literature studied by us, which served as the basis for this study.
AIM: To assess the role of the level of expression of the hypoxia-inducible factor HIF-1α in various tissues of laboratory animals in increasing the resistance of animals to the effects of extreme hyperthermia.
MATERIALS AND METHODS: The study was carried out on outbred white laboratory rats obtained from the Rappolovo nursery weighing 180–220 g. For the study, preliminary laboratory animals were tested for an individual level of resistance to hyperthermia (40 animals), which made it possible to form experimental groups from highly resistant and low resistant to extreme animal influences. The definition of resistance to hyperthermia was carried out by the rate of increase in rectal temperature in animals during 20-minute air hyperthermia (40°C). 4 groups of laboratory animals were formed (2 each with high and low resistance), half of which were exposed to a pronounced adverse effect of hyperthermia. Biological material was taken from all animals (whole blood, plasma, tissues of the heart, liver, kidneys, brain), in which the expression of the HIF-1α and TSPO genes (housekeeping gene) was determined by the Real-Time-PCR method. Statistical processing of the obtained data was carried out using the ANOVA analysis of variance.
RESULTS: It has been established that the level of resistance of animals to hyperthermia is largely determined by their genetic characteristics. Even under thermocomfort conditions, the expression of the TSPO “housekeeping” gene in animals with a high level of resistance to hyperthermia differed with a high degree of reliability from low-resistant animals (in the kidneys, liver, and brain, on average, by 40–60%; in the heart, by 25%). The expression values of this gene, determined in whole blood or plasma, make it possible to differentiate groups of animals according to the level of resistance to hyperthermia. A similar relationship between animals with high and low resistance is also observed in tissues obtained immediately after thermal exposure.
CONCLUSIONS: The main organ that provides a high level of resistance to both hypoxia and hyperthermia associated with the basic (under thermal comfort conditions) expression of HIF-1α is the brain. The expression of the hypoxia-inducible factor in it is more than 300 times higher than the expression of the “housekeeping” genes. The second most important organ is the liver, in which HIF-1α expression activity is more than 15 times higher than the expression of “housekeeping” genes. Under conditions of hyperthermia, low-resistant animals show a compensatory-adaptive reaction associated with the activation of hypoxic defense mechanisms in blood cells, kidneys, and liver, in the absence of such a reaction in the tissues of the heart and brain. Animals highly resistant to hyperthermia were characterized by a significant (30 times) increase in the relative activity of HIF-1α expression mechanisms in blood cells, 2.5 times in liver cells, and a decrease in expression by 25% in the kidneys and almost 2 times in brain tissues. A high level of basal expression of the transcription factor HIF-1α under everyday (thermocomfortable) conditions may be a predictor of a high level of resistance to hyperthermia in a given animal. Probably, to increase the body’s resistance to extreme impacts, it is advisable to use medical technologies that increase the level of HIF-1α expression in everyday (thermocomfortable) conditions in key tissues — the brain, liver, and myocardium.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
The influence of Epstein–Barr-associated infection upon pituitary-thyroid system in children at different periods of the disease
Abstract
BACKGROUND: The interest in infectious mononucleosis caused by the Epstein–Barr virus (EBV) is currently apparent. Epstein–Barr virus reaches tropism for reticular and lymphoid tissues, does not eliminate from the body and causes an immunopathological process in which the endocrine system develops. Thyroxine (T4), triiodothyronine (T3), and thyroid-stimulating hormone determinations are the most widely used diagnostic tests to assess thyroid function.
AIM: To study changes in T3, T4, thyroid-stimulating hormone in children of older sex and age at the height and convalescence of infectious mononucleosis, the period of Epstein–Barr virus.
MATERIALS AND METHODS: Under the supervision of the child were 94 aged from 1 to 17 years, among them from 1 to 5 years – 22%, from 5 to 10 years — 39%, from 10 to 15 years — 27%, from 15 to 17 years — 12% , diagnosed with Epstein–Barr virus – mononucleosis, moderate severity. The diagnosis was made on the basis of clinical, anamnestic and laboratory data. The studies leading to the diagnosis were carried out in the laboratory of the Saint Petersburg State Pediatric Medical University. In addition to routine settings (clinical minimum), detection of M- and G- antibodies to Epstein–Barr virus, detection of the genome in the blood by PCR, determination of the levels of T3, T4, thyroid-stimulating hormone by enzyme-linked immunosorbent assay in blood serum.
RESULTS: Regular changes in T3 concentrations were registered in both girls and boys of all three age groups: the concentration of T3, T4 in the period of the peak of the disease was reduced compared to the period of convalescence. Significant changes in thyroid-stimulating hormone were registered in girls and boys of all three age groups: the concentration of thyroid-stimulating hormone during the peak of the disease slightly decreased compared to the period of convalescence in boys and increased compared to the period of convalescence in girls.
CONCLUSIONS: The changes in the levels of T3, T4, thyroid-stimulating hormone in children during the peak of infectious mononucleosis depends on the severity of the disease, the presence and nature of complications.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Newborn asphyxia: features of the course of pregnancy and delivery and the structure of the placenta
Abstract
BACKGROUND: The main cause of early neonatal death is neonatal asphyxia. Asphyxia transferred during childbirth can lead to damage of the brain, respiratory disorders, hemodynamic disorders, and impaired renal function.
AIM: The aim of the study is to determine the factors predisposing to the birth of a child in a state of asphyxia.
MATERIALS AND METHODS: A retrospective study was conducted, which included the analysis of medical records of 11,662 women who gave birth at the Perinatal Center of the Saint Petersburg State Pediatric Medical University (level IIIB obstetric institution), whose pregnancy ended in urgent delivery. The main group included patients who gave birth to full-term babies in a state of moderate and severe asphyxia (n = 70), the control group included patients who gave birth to children without asphyxia (n = 11,592).
RESULTS: Factors predisposing to the birth of a full-term baby in a state of moderate and severe asphyxia were identified, which can be used to develop a system for predicting the birth of a child in a state of asphyxia and a set of preventive measures.
CONCLUSIONS: More frequent ascending infection of stage II and III makes it necessary to timely identify and treat a bacterial infection in all full-term pregnant women. A prognostic model for the birth of a full-term baby in a state of asphyxia has been constructed. Women at risk should undergo an additional examination at 37 weeks of pregnancy: sowing from the cervical canal for flora and sensitivity to antibacterial drugs to identify pathogenic and opportunistic microflora, childbirth should be carried out under mandatory constant monitoring control.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
The influence of the integration and rehabilitation program on the peculiarities of the formation of the vegetative balance of younger schoolchildren affected by military operations
Abstract
BACKGROUND: There is little information concerning the health parameters of children who are in the conditions of military hostilities.
AIM: The aim of the study is to develop and study the impact of a comprehensive integration and rehabilitation program on heart rate variability in primary school children who have experienced the stress of military operations.
MATERIALS AND METHODS: 128 children of primary school age who found themselves in the zone of active hostilities were under observation. The comparison group consisted of 68 children who lived in territories where military operations were not carried out. The assessment of vegetative functions was carried out according to the indicators of the analysis of temporal and spectral indicators of heart rate variability using the hardware and software complex Poly-Spectrum-12.
RESULTS: The power of the “very” low-frequency component (VLF, ms2) of the spectrum in group I of children was also increased by 23.79% in comparison with the comparison group. The respiratory component (HF, ms2) of the general spectrum also had a statistical difference (25.27%) with the indicators of the comparison group at the time of the first study (p < 0.05) in the younger schoolchildren evacuated to Rostov-on-Don. Upon repeated examination, it was found that the indicators of mode and variation range increased in all subgroups, except for a subgroup of children who were in the combat zone and were not included in the comprehensive integration and rehabilitation program.
CONCLUSIONS: According to the results of spectral and temporal analysis of the heart rate, the vagosympathetic balance in younger schoolchildren who experienced the impact of the military operation in the Donbass Region reflects the activation of the sympathetic department of the autonomic nervous system. The developed comprehensive integration and rehabilitation program has shown its greatest effectiveness in children evacuated to Rostov-on-Don.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Prospective observation study of the effect of dupilumab on the body weight of children with atopic dermatitis
Abstract
BACKGROUND: Dupilumab is a drug from the group of biological therapy approved for use in children from 6 years of age in Russian Federation. Due to the recent introduction into clinical practice, appear new reports about various clinical effects that may be associated with the use of the drug, but are not listed in the instructions. Thus, cases of the possible effect of dupilumab on weight gain in adult patients with atopic dermatitis have been reported. We recorded a weight change greater than the average weight gain in children treated with dupilumab.
AIM: The aim of the study was to evaluate the change in the weight of patients with moderate to severe atopic dermatitis treated with dupilumab for a year.
MATERIALS AND METHODS: From January to December 2022 28 children with moderate and severe atopic dermatitis were under observation. All patients were treated with dupilumab in accordance with clinical guidelines for the treatment of atopic dermatitis. Before and at the end of the study, patients were assessed for the severity of the disease, height, body weight, the body mass index, as well as a survey about the quality of sleep and compliance with a hypoallergenic diet. Patients were divided into 2 age groups: 6–10 years old and 11–13 years old. The results of measurements were evaluated separately in each age group and were correlated with centile tables.
RESULTS: The study included 28 patients aged 6 to 13 years [18 girls (64.3%) and 10 boys (35.7%), mean age 10.25 years] with moderate (n = 11; 39.3%) and severe (n = 17; 60.7%) course of atopic dermatitis (mean SCORAD 57.3 ± 4.6). At the end of the observation period, weight gain in the first age group was 5.8 kg; in the second group — 3.06 kg; while the body mass index increased in the first age group by 1.65; in the second group — by 0.23. According to the results of the survey at the initiation stage 19 (67.86%) participants in the observational program noted the presence of sleep disorders, 17 (60.71%) patients followed a hypoallergenic diet. At the end of the observation period 15/19 (78.94%) patients noted an improvement in the quality of sleep, 12/17 (70.59%) patients indicated an increase in the diet.
CONCLUSIONS: The first data on a probable association between the treatment of atopic dermatitis with dupilumab and weight gain in the pediatric population are presented. The exact mechanism of the drug effect on weight gain is not clear, but the positive effect is to expand the diet, normalize sleep and improve the psychological background, which leads to an increase in body weight in relation to its initial shortage.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Etiological factors and pathophysiological mechanisms of the reparative process in various types of cephalohematoms and methods of their treatment
Abstract
BACKGROUND: The evolutionarily formed biomechanism of childbirth in humans causes a high incidence of head injuries during the reproductive process. One of the indicators of cranial injury is cephalohematoma. Despite the presence of a number of protective and adaptive mechanisms on the part of the fetus, the frequency of subperiosteal hemorrhages remains high and does not tend to decrease. Modern knowledge about the etiology of cephalohematomas does not always fit into the framework of classical ideas about the causes of hemorrhage under the periosteum. The lack of a unified understanding of the pathomechanisms occurring in a long-term subperiosteal hemorrhage leads to a mismatch of tactical actions during their treatment and the development of complications.
AIM: To assess the role of etiological factors in the formation of subperiosteal hemorrhage in newborns and to determine the main direction of the pathophysiological process during repair with various types of cephalohematomas and methods of treatment.
MATERIALS AND METHODS: A study of 243 newborns with the presence of cephalohematomas of various localization for the period from 2018–2022 was carried out, an analysis of the etiological prerequisites, features of the reparative process with various volumes of hemorrhages and methods of treatment using descriptive statistics methods was carried out.
RESULTS: The predominance of children with the presence of cephalohematomas with a history of the absence of hydraulic protection of the head due to early rupture of amniotic fluid was revealed in relation to other mechanical factors of intranatal damage. The greatest number of subperiosteal hemorrhages was noted in newborns from multiparous mothers. The main non-traumatic factor contributing to the formation of cephalohematomas was the factor of infectious effect on the fetus. The predominance of osteomalacic processes with medium and large volumes of cephalohematomas in relation to small-sized cephalohematomas, which had a tendency to early ossification, was noted. The effectiveness of therapeutic aspiration was noted in all cases of observation of newborns from the surgical subgroup.
CONCLUSIONS: One of the most significant etiological factors for the occurrence of cephalohematomas in the observation group was the factor of intranatal mechanical trauma to the soft tissues of the head, due to the lack of hydraulic protection. The numerical predominance of newborns with subperiosteal hemorrhages from multiparous mothers contradicts the basic physiological canons of the biomechanism of labor and may be due to the high incidence of the infectious factor. The direction of the pathophysiological process in the course of repair in case of periosteal detachment may depend not only on microenvironmental factors, but also be determined by the amount of hemorrhage. The use of puncture treatment for cephalohematomas can significantly reduce the number of complications associated with long-term persistence of subperiosteal hemorrhage.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Effect of reindeer pituitary peptide extract on cognitive functions in rats with changes light regime
Abstract
BACKGROUND: Disruption of circadian rhythms can cause significant damage to sensory processing, learning, and memory. At the same time, the structure of the endogenous biological clock contributes to the adaptation of the organism to changes in the conditions for the existence of a biosystem in the external environment. The possibility of synchronization of the endogenous rhythms of the organism with disturbed light periodicity is an urgent problem of modern society, where different rhythms of labor, motor, cognitive activity are used.
AIM: To study the effect of peptides from the pituitary gland of the Reindeer on the parameters of cognitive functions in rats with a long-term change in the light regime on models with altered cellular oscillation due to oxidative stress caused by poisoning of animals with sodium thiopental in a half-lethal dose.
MATERIALS AND METHODS: The study was conducted on 56 white Wistar male rats after acute poisoning with sodium thiopental at a dose of 85 mg/kg under conditions of light desynchronosis. In the passive avoidance conditioned reflex test, the cognitive functions of animals were assessed after a two-week pharmacological correction with a cellular extract of the pituitary gland of the Reindeer at a dose of 100 mg/kg.
RESULTS: The peptide extract of the pituitary gland of the Reindeer contributes to the change in the higher integrative functions of the central nervous system in case of disturbed periodicity of the light signal. The results obtained indicate the chronobiotic activity of the peptide extract of the pituitary gland of the Reindeer at a dose of 100 μg/kg when administered intranasally.
CONCLUSIONS: The light regime change for 1 month under conditions of altered cellular oscillation led to impaired of the higher integrative functions of the central nervous system in rats, which was accompanied by an increase in the rate of reflex extinction and a disturbance of the processes of memory consolidation; under conditions of constant light, these disorders are more pronounced. The result of the pharmacological correction of these changes with the reindeer pituitary peptide extract was an improvement in the processes of memory consolidation and information reproduction (an increase in the number of trained animals with a change in the light regime).
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Reviews
Molecular genetic traits and risk factors for neuroblastoma
Abstract
Neuroblastoma is the most common extracranial solid tumor in childhood, accounting for 8–15% of all malignant neoplasms in children. The uniqueness of the neuroblastoma etiology and pathogenesis creates significant difficulties for doctors due to the unpredictability of the course of the disease: the tumor can regress and lead to death in a short time, showing significant immunity to ongoing therapy. Early diagnosis of a tumor is necessary to understand the risk factors, the etiology, the mechanisms of neuroblastoma occurrence and further development. To date, a number of different risk factors have been identified, related both to genetic aspects and to aspects related to the course of pregnancy, birth and lifestyle of the child’s parents. The list of these risk factors is still incomplete and research to identify new factors continues to this day. Morphological and molecular genetic diagnostics play an important role in this. Undifferentiated and low-differentiated variants of neuroblastoma are often associated with MYCN amplification and other chromosomal aberrations determined by molecular genetic research. Chromosomal instability plays an important role in the process of early tumor development, which probably causes the possibility of acquiring certain genetic changes, which also determines the prognosis and further therapeutic options. In this article, we have identified the most significant risk factors by comparing the results of various studies.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Vaping lung damage (review)
Abstract
The review presents data from meta-analyses and original studies on the study of the vapers disease — electronic cigarette or vaping product use-associated lung injury (EVALI) — a new nosological form in patients with acute and subacute respiratory diseases caused by the consumption of electronic nicotine delivery vehicles, or vaping. The number of users are growing in around the world, especially among young people. According to a 2022 meta-analysis, the global prevalence of vaping use was 23%, including 16% in women and 22% in men. Prevalence of electronic nicotine delivery systems among cigarette smokers reached 43%, while on different continents, except for Asia, during the life it was approximately the same: in America — 24%, Europe — 26%, Asia — 16%, Oceania — 25%. Vaping rates among children aged 15 to 17 are almost four times (21.3%) higher than those aged 12–14 (5.4%). Two-thirds (66.1%) of children aged 12 to 17 using electronic nicotine delivery devices were also smokers, while they started with vapes. Nicotine cartridges used by 89.3% of teen vapers aged 15 to 19 years. Vaping lung diseases have been reported since invention e-cigarettes, but the number of cases increased sharply at the end of September 2019, and by February In 2020, the number of hospitalized patients in the United States reached 2807, with 68 confirmed deaths. Most of the cases are male adolescents and men aged 13–34 years. The review discusses the etiology, clinical picture, imaging findings, pathological EVALI features. When examining patients with EVALI, computed tomography revealed images characteristic of acute lung injury and pneumonia, as well as those resembling non-fibrous hypersensitivity pneumonitis, acute eosinophilic pneumonia. The article discusses the main differences between these diseases and the computed tomography picture of COVID-19. Before EVALI, vaping was associated with a wide range of pulmonary manifestations, including lipoid pneumonia, acute respiratory distress syndrome and diffuse alveolar hemorrhage. Although the overall prevalence of EVALI has declined sharply compared to with a peak in September 2019, other chemicals may appear that cause various pulmonary diseases associated with vaping. EVALI is a new nosological form in patients with acute and subacute respiratory diseases caused by lung damage due to the use of electronic means delivery of nicotine. The appearance of radiographic images in EVALI is diverse: from bilateral opacities in the lungs to reveal centrilobular nodules resembling non-fibrous hypersensitivity pneumonitis. When interpreting acute lung injury in young people, the possibility of EVALI should be considered.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Clinical observation
Clinical observation of genetically confirmed Kabuki syndrome type 1, with an undetermined type of inheritance, in a 7-year-old child
Abstract
Kabuki syndrome is a rare hereditary disease that has a specific clinical picture: facial features, growth retardation, muscular hypotonia, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental retardation, and postnatal growth deficiency. Kabuki syndrome (Kabuki mask syndrome / Kabuki makeup syndrome) got its name for the specific features of the appearance of patients who have a facial expression similar to a special makeup that highlights the eyes and eyebrows of the characters of the Japanese Kabuki theater. The main reasons for the development of Kabuki syndrome in 75% are mutations in the KMT2D gene (KS type 1) and in 5% are mutations in the KDM6A gene (Kabuki syndrome type 2), the etiology of about 20% of cases remains unknown. Most mutations in type 1 Kabuki syndrome are formed de novo, and cases of autosomal dominant inheritance have also been described. Type 2 Kabuki syndrome has sex-linked (X-linked) inheritance. Because Kabuki syndrome is a low-prevalence, multisystem disease, patients require a variety of diagnostic and screening tests with multidisciplinary evaluation of outcomes at different stages of their lives. Early diagnosis of the disease is crucial for timely treatment and rehabilitation measures and improving the prognosis and quality of life of the child. The interest of the presented clinical observation of Kabuki syndrome lies in the importance of early recognition of clinical manifestations, timely surgical treatment, hearing rehabilitation and improving the prognosis of the patient’s life. The article describes a clinical observation, genetically confirmed type 1 Kabuki syndrome, in a child born in 2015 (type of inheritance not established). The interest of the presented clinical observation of Kabuki syndrome, manifested by characteristic facial features, skeletal anomalies, postnatal growth retardation, dermatoglyphic anomalies, intellectual retardation, lies in the need for a multidisciplinary approach to the diagnosis and treatment of the patient.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Infectious “masks” of connective tissue diseases (clinical cases)
Abstract
For many centuries, infectious diseases have remained an important medical and social problem of humanity. To date high rates of morbidity remain among both the adult and child population. The similarity of clinical symptoms in the onset of some infections with diseases of different nature, including connective tissue diseases, often presents difficulties for verifying the diagnosis. Different clinical manifestations of connective tissue diseases dictate the need for an extended examination of patients to clarify the nature of the disease, to determine the role of the infectious agent, if it is detected: whether it is the cause of the existing symptoms or a trigger in the development of an autoimmune disease. The article presents 2 clinical observations of the “infectious” debut of connective tissue diseases. Two girls, 13 years old and 5 years old, were hospitalized at the Pediatric Research and Clinical Center for Infectious Diseases with suspected acute infectious pathology. The dominant complaint was fever. In the first case cough and pain syndrome of various localization were also noted and in the second case exanthema was observed. After examination it was impossible to verify the etiological pathogen. Сonnective tissue diseases were suspected, namely, in the first clinical case systemic lupus erythematosus was suspected, in the second — juvenile dermatomyositis, which were confirmed by the detection of specific autoantibodies. Clinical cases demonstrate the difficulty of establishing connective tissue diseases diagnosis due to similarity these diseases clinical picture with the onset of infectious pathology. Taking into account the dependence of the course and outcomes of connective tissue diseases on the start of specific therapy, it is necessary to increase the alertness of infectious disease doctors and pediatricians for the timely detection of this cohort of patients.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)
Features of intestinal microbiota in chronic pyelonephritis in a patient with Mayer–Rokitansky–Kustner–Hauser syndrome
Abstract
Mayer–Rokitansky–Küstner–Hauser syndrome is a congenital anomaly in the development of the female reproductive system, the essence of which is a violation of the intrauterine development of the Müllerian ducts, causing complete aplasia of the vagina and uterus. Deviation is a total or partial absence uterus, two upper thirds of the vagina, most often in combination with various anomalies of organs and systems, such as excretory, cardiovascular. Currently, the causes of this pathology are not fully understood studied. According to the World Health Organization, the percentage of hereditary factors intrauterine development disorders is approximately 10 to 25%. It is known that patients with this pathology often suffer from diseases of the urinary system (pyelonephritis). Chronic pyelonephritis is a common pathology in any age group due to excessive growth of the bacterial flora. The main causative agent, most often, are representatives of the intestinal microbiota (Escherichia coli, Enterococcus, Staphylococcus). Determination of the genus and species composition of the intestinal microbiota can serve as one of the diagnostic signs that contribute to the timely correction of the main therapy. Presented clinical case demonstrates a change in the biodiversity of the intestinal microbiota in a patient with Mayer–Rokitansky–Küstner–Hauser syndrome, which entails timely correction of drug therapy regimens in relation to chronic pyelonephritis and achieving remission. Thus, the study of changes in the composition of the intestinal microflora can become a new criterion in the diagnosis and treatment of this disease at an early stage.
![pages](/img/style/pages.png)
![views](/img/style/views.png)
![](/img/style/loadingSmall.gif)