Pediatria. Journal named after G.N. Speransky最新文献

{"title":"Calcium release deficiency syndrome, a rare variant of catecholaminergic polymorphic ventricular tachycardia","authors":"I. Kovalev, V. M. Soloviov, V.V. Bereznitskaya, E. Kulbachinskaya, S. A. Termosesov, N.V. Terekhova","doi":"10.24110/0031-403x-2023-102-6-195-201","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-195-201","url":null,"abstract":"Authors present a difficult-to-diagnose clinical case of cotecholaminergic polymorphic ventricular tachycardia (CPVT), a rare hereditary disease, which is characterized by mutations most often in the RYR2 gene with increased function of the ryanodine receptor, which in its turn is the main protein of calcium channels in the sarcoplasmic reticulum of cardiomyocytes. The mechanism of development of the pathology is based on late post-depolarization, which is a trigger for the occurrence of severe ventricular arrhythmias associated with a high risk of sudden cardiac death. Ventricular arrhythmias in children with CPVT can causally be reproduced using an exercise test at a low heart rate threshold. However, there have been reports of sudden cardiac death in individuals who had the loss-of-function RyR2 mutations and who have nevertheless had negative stress test results. The main clinical manifestation is syncope, the genesis of which may remain unknown for a long time. The described clinical case demonstrates the complexity of diagnosis, for which the routine cardiological examination isn’t enough. Specialists therefore have difficulties in making the correct diagnosis and determining the patient management tactics.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"115 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical manifestations and differential diagnosis of a rare form of hereditary connective tissue dysplasia, Cutis laxa syndrome","authors":"A. Semyachkina, E. A. Nikolaeva, A. R. Zabrodina, G. V. Dzhivanshiryan, S. V. Bochenkov","doi":"10.24110/0031-403x-2023-102-6-181-187","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-181-187","url":null,"abstract":"Article is devoted to one of the rare forms of monogenic connective tissue disease, Cutis Laxa with an autosomal recessive type of inheritance (ARCL1C), the Urban-Rifkin-Davis syndrome. The bibliographical data on this disease and the medical records of a 6-year-old male pediatric patient who was observed at the Clinical Genetics Department of the Research and Clinical Institute of Pediatrics named after Academician Yuri Veltischev with the Pirogov Russian National Research Medical University (Moscow, Russia) are presented. In addition to skin lesions, the child had disorders of the cardiovascular, respiratory and urinary systems. The diagnosis was confirmed by the DNA diagnostics results: the two mutations in the compound heterozygous state were found in the LTBP4 gene: the variant rs397515430 p.1342C>T previously described in the scientific sources in exon 11 leading to a stop codon and premature termination of translation - p.Arg475Ter; the second variant, not previously described in the literature, was found in intron 4 - c.452-22A>C. A differential diagnosis with other phenotypically similar diseases was carried out. Further medical supervision of the patient should be carried out with the mandatory involvement of the pulmonologist, the cardiologist and the nephrologist.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"20 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178757","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current possibilities for nutritional interventions in children with cerebral palsy","authors":"N.A. Fedorushkina, Т. Borovik, N. G. Zvonkova, T. Bushueva, S. Yatsyk, I. Sokolov, I. Guseva, V. Skvortsova, L. Kuzenkova, O. Lukoyanova, T. Kazyukova, A. Fisenko","doi":"10.24110/0031-403x-2023-102-6-140-151","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-140-151","url":null,"abstract":"With the purpose of successful rehabilitation, reduction of concomitant diseases, improvement of nutritional status and the quality of life of patients with cerebral palsy (CP) it is necessary to develop therapeutic nutrition technology, which would include methods for nutritional status assessment, choosing of enteral nutrition formulas, methods of their delivery and the duration of nutritional support. The purpose of this research was to substantiate the nutritional support for patients with CP. Materials and methods used: 98 children aged 2 to 16 years and 9 months old (Me 5.7 y/o) with a spastic form of CP that had been admitted for examination, treatment and rehabilitation at the National Medical Research Center for Children’s Health (Moscow, Russia) were examined. Depending on the level of motor activity calculated with GMFCS, the participants were divided into two groups: G1 of 51 (52%) with severe motor impairment (GMFCS IV to V) and G2 of 47 (48%) with mild and moderate motor impairment (GMFCS I to III). Clinical and anamnestic data, information about the severity and the course of the disease, concomitant pathology were analyzed as well as the anthropometric data (Z-scores: weight/age, height/age, BMI/age) using the WHO AnthroPlus application (2009 revision). EDACS survey had also been carried out. Results: Patients with severe motor impairments were significantly more likely to have problems associated with food intake, such as: prolonged feeding (over 30 minutes), predominance of semi-liquid and pureed food in the diet as well as frequent choking, vomiting, wheezing and coughing during the feeding process. All patients in this group needed external assistance in feeding. 75% had respiratory and 72% had gastrointestinal complications. Severe impairments (EDACS IV to V) characterized by significant restrictions on food safety were identified in 24 (23%) children, that met statistically significantly (p<0.001) more often in patients from G1 than from G2 (41% vs. 4%, respectively). Dietary analysis children with CP had showed that the quality and quantity of food consumed were monotonous and deficient. Consumption of pasta, cereals, and baking was 1.5 times higher than recommended whilst vegetables, fruits and healthy dairy products were reduced by 3 and 1.8 times, respectively, on the contrary. The WHO recommendations for children on the mandatory daily intake of 3 to 4 servings of various vegetables and fruits were not followed: in the majority (80%) of cases they’ve only had it once per day, and they even were completely absent in some cases. Nutritional assessment revealed that patients with severe movement disorders, regardless of the gender and nutritional status, had significant deficiencies in energy and protein intake. All studied anthropometric indicators in G1 patients were significantly (p<0.005) lower compared to G2 children. Prevalence of undernutrition was 72% and 32% (p<0.001), respectively. Individual nutritional program ","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"189 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoinflammatory diseases in the pediatric neonatologist’s and physician’s practices: series of clinical cases","authors":"T. Belousova, S. A. Loskutova, A. Zatolokina, T.Yu. Svershchevskaya, E.N. Kolotova","doi":"10.24110/0031-403x-2023-102-6-134-140","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-134-140","url":null,"abstract":"Molecular genetic analysis in the current clinical practice is a kind of must-do standard in the diagnosis of rare (orphan) diseases and syndromes in pediatric patients, which gives the opportunity for making a diagnosis at an early stage, early period of life and followed by the initiation of a targeted pathogenetic therapy, if and when needed, that in its turn is able to improve the prognosis not only for the health, but also for the quality of life and in some cases for the survival of a patient. As for now, this is an overall accessible diagnostic method the use of which is nevertheless often associated with certain difficulties, such as the need for going through the path of a complex differential diagnosis and the awareness and targeted qualification among pediatric practitioners and neonatologists. Authors presents the description of the two clinical cases of a rare autoinflammatory disease, cryopyrin-associated periodic syndrome (CAPS) in children as a demonstration of the way to verify a clinical diagnosis in childhood and the features of diagnosing orphan diseases in a Russian regional hospital. Conclusion: the presented clinical observations demonstrate the capabilities of modern medicine in making a clinical diagnosis of an orphan disease from the group of autoinflammatory diseases, CAPS in particular, starting from the neonatal period of life of a patient.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"528 13","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative evaluation of thyroid-stimulating hormone, cortisol and serotonin production as the neuroendocrine regulation markers of adaptation processes to the peculiarities of the educational process in male schoolchildren of different age groups","authors":"O. Dolgikh, D.G. Dianova, N. Nikonoshina","doi":"10.24110/0031-403x-2023-102-6-152-159","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-152-159","url":null,"abstract":"School education is associated with the development of intellectual, neuropsychic and physical overstrain in schoolchildren, which causes the formation of the complex of adaptive reactions to changed environmental conditions. The purpose of the research was to perform a comparative assessment of the levels of thyroid-stimulating hormone, cortisol and serotonin in male schoolchildren (pupils of the Russian second pillar educational institutions) with different physical activity intensity. Materials and methods used: a single-center one-stage study with control groups was conducted in March-April 2019. The observation groups consisted of 173 boys from the secondary cadet school whose education was characterized by a prolonged and more frequent physical activity; the control groups consisted of boys from the standard secondary general education school. The four observation groups and the four corresponding control groups were formed according to the age, as follows: groups marked “1” were formed from the first-grade students solely; groups “2” - from second to fourth grades students; groups “3” - from sixth to seventh grades students; and groups “4” - from students of the nineth to eleventh grades. The levels of cortisol, serotonin (5-HT) and thyroid-stimulating hormone (TSH) were determined by enzyme immunoassay. Results: the average serum serotonin level in male schoolchildren from the observation groups of 6th to 7th and 9th to 11th grades students was significantly (p=0.002 to 0.003) - up to 1.6 times - higher than the average 5-HT level in children from the corresponding control groups; the average cortisol level in all schoolboys from cadet school was significantly (p=0.023 to 0.050) lower - by up to 1.3 times - than the values obtained in control groups (i.e. standard secondary school students); and the blood TSH levels were significantly (p=0.036 to 0.050) - about 2 times - lower in all observation groups vs. the control groups of pupils. Conclusion: the obtained results allow formulating a hypothesis of schoolboys with higher physical activity levels in transitional (7 years old) and pre-puberty ages (11 to 12 years old) within intensive adaptation processes to schooling activities having imbalance in glucocorticoid and serotonergic regulation.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"640 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KIDNEY DAMAGE IN CHILDREN WITH A NEW CORONAVIRUS INFECTION CAUSED BY SARS-CoV-2: A SYSTEMATIC REVIEW","authors":"E.P. Bataeva, I. K. Bogomolova, A. Dolina, A.G. Oparina","doi":"10.24110/0031-403x-2023-102-6-105-114","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-105-114","url":null,"abstract":"This bibliographical review is based on studies published in the PubMed Central® (PMC) database between Mar. 2020 and Dec. 2022 using the keywords as follows: “SARS-CoV-2,” “COVID-19,” “kidney damage” and “children.” Information on clinical criteria, laboratory symptoms, possible pathogenetic response pathways and expected long-term outcomes of kidney damage associated with SARS-CoV-2 (Severe Acute Respiratory Syndrome Coronavirus) infection in children was analyzed. An attempt was made to trace the features of manifestations of the new coronavirus infection depending on previous renal pathology. The polyetiological nature of renal tissue lesion is evident, which is the result of direct effect of SARS-CoV-2 virus on the renin-angiotensin-aldosterone system (RAAS), ischemia, hypercoagulation, cytokine storm, rhabdomyolysis, pulmonary-renal pathogenic reaction etc. Kidney damage in the pediatric population has been found to be more frequent in the severe COVID-19 in children with multisystem inflammatory syndrome (MIS) in the setting of admission at the intensive care unit (ICU). Manifestations range from minor urinary syndrome to the development of acute kidney injury (AKI). A number of consequences and cases of the course of some diseases after coronavirus infection in children as well as clinical and laboratory features of coronavirus infection in patients with previous renal pathology are described. The findings initiated the need for the long-term follow-up of children with COVID-19 both with and without renal insufficiency.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"26 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transabdominal ultrasound colon diagnostics with the purpose of assessment of the endoscopic activity of ulcerative colitis in children","authors":"A.V. Vinokurova, A. Potapov, M. Lokhmatov, D. V. Khazykova, M.O. Prokhorenkova, A. Fisenko","doi":"10.24110/0031-403x-2023-102-6-66-74","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-66-74","url":null,"abstract":"Transabdominal ultrasound examination of the colon is an informative research method that does not require special training, which is vital in pediatric practice. The purpose of the study was to compare the informativeness of transabdominal ultrasound of the colon vs the colonoscopy using the clinical and laboratory data of pediatric patients with ulcerative colitis (UC). Materials and methods used: a single-center retrospective cohort study was conducted at the Gastroenterology Department of the National Medical Research Center for Children’s Health (Moscow, Russia) in 2021-2023, which included 119 children 7 to 17 years and 11 months old with an established UC diagnosis. All children have undergone clinical and laboratory tests, ultrasound and ileocolonoscopy. The UCEIS scale and the PMI index of clinical activity were used to assess the endoscopic activity. The study of fecal calprotectin was carried out with immunochromatographic method. During transabdominal ultrasound, the thickness of the intestinal wall and blood flow were assessed using the Color Doppler imaging mode. Results: statistically significant increase in the thickness of the intestinal wall against the background of the growth of UCEIS (Rs=0.654; p<0.001), PUCAI (Rs=0.642; p<0.001) and the level of fecal calprotectin (Rs=0.463; p<0.001) was detected. Statistically significant differences in increased blood flow in the intestinal wall of the sigmoid colon were found with the UCEIS, PUCAI index (p<0.001, for both indices) and the level of fecal calprotectin (p=0.014). The area under the ROC curve corresponding to the relationship between the prognosis of the development of ulcerative colitis and the thickness of the sigmoid colon was 0.850±0.054 with 95% CI: 0.745-0.955. The resulting model was statistically significant (p<0.001). The threshold value of the sigmoid colon thickness was 2.05 mm, in case of an increase in this value, a high risk of exacerbation of ulcerative colitis was predicted. The sensitivity and specificity of the method were 84.3% and 72.7%, respectively. When comparing the PUCAI index, the UCEIS index and the level of fecal calprotectin based on the blood flow in the sigmoid colon wall, the statistically significant differences were found (p<0.001, for both indices, and p=0.014 for fecal calprotectin, respectively). Conclusion: transabdominal ultrasound diagnostics showed good correlation with colonoscopy, clinical activity of the disease and the level of fecal calprotectin, as a result of which ultrasound of the colon should be considered as a useful imaging method for assessing inflammatory activity in the colon and follow-up of patients with UC.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"60 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}