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

{"title":"Familial case of a rare disease, thiamine-biotin dependent basal ganglia disease","authors":"T. Bushueva, L. Kuzenkova, K. Savostyanov, A. Fisenko, A. V. Anikin, A. Pushkov, M. Basargina, T. Borovik, L. A. Osipova, V. S. Kakaulina, T. Kazyukova","doi":"10.24110/0031-403x-2024-103-1-189-195","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-189-195","url":null,"abstract":"Thiamn-biotin dependent basal ganglia disease is a rare inherited disorder. The earliest possible diagnosis plays a crucial role in prevention of death or brain damage due to the severity of the disease. Neonatal screening is not adequate because of the extreme rarity of this disease. The demonstrated familial record showcases the need for selective screening in cases of a burdened familial anamneses in patients with undifferentiated encephalitic crises, including undifferentiated mitochondrial encephalopathies, and confirms the importance of the earliest possible start of metabolic therapy with thiamine and biotin in order to reaching the satisfactory compliance from the family. The severe importance of regular dispensary observation and testing coupled with the timely correction of treatment in such patients is shown as well.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"5 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957847","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":"Central nervous system damage in newborns due to hypo- and hyperglycemias. A bibliographical review","authors":"Y. Samoilova, M. Matveeva, D. Galyukova, T. Sivolobova, V. Zhelev, D. Kudlay","doi":"10.24110/0031-403x-2024-103-1-153-157","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-153-157","url":null,"abstract":"Carbohydrate metabolism plays an enormous role in the vital functions of a child’s body. Glucose is the main energy source for the development of the central nervous system starting from the intrauterine development period. This bibliographical review is devoted to such pathological conditions of newborns as hypo- and hyperglycemias and namely to the mechanisms of the influence of the named metabolic disorders on the central nervous system, the topography of the brain damages and clinical consequences. The analysis revealed that dysglycaemia is more common in children with an aggravated ante- and perinatal history, is combined with damage of brain structures and leads, even in subclinical form, to short- and long-term consequences of neuropsychiatric development, and therefore requires predictive and timely verification and correction taking into account individual characteristics.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"11 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957521","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":"Resolution by the Expert Council on the use of the Valoctocogene Roxaparvovec drug in patients with Hemophilia A in Russia","authors":"A. G. Rumyantsev, T. A. Andreeva, P. A. Zharkov, N. I. Zozulya, A. Mamaev, P. Svirin, A.P. Momot","doi":"10.24110/0031-403x-2024-103-1-196-197","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-196-197","url":null,"abstract":"Resolution by the Expert Council on the use of the Valoctocogene Roxaparvovec drug in patients with Hemophilia A in Russia.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"10 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957728","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":"Russia’s first experience in robot-assisted surgery in pediatric urology","authors":"Y. Kozlov, S. Poloyan, E. V. Sapukhin, A.S. Strashinskiy, M. V. Makarochkina, A. A. Marchuk, A.P. Rozhanskiy, A. A. Byrgazov, S.A. Muravyov, A. N. Narkevich","doi":"10.24110/0031-403x-2024-103-1-138-145","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-138-145","url":null,"abstract":"Robot-assisted surgery in pediatric urology is developing most intensively among other surgical disciplines in the direction from simple to complex reconstructive interventions. The purpose of the Article is to summarize the current state of the problem of robotic surgery in pediatric urology and evaluate its future possibilities. The scientific study was carried out at the Irkutsk Oblast Regional Children's Clinical Hospital (Irkutsk, Russia) in Dec. 2022-May 2023. 19 robot-assisted procedures were performed over the entire period. Robotic surgeries were performed using the new Versius robotic platform by Cambridge Medical Robotics (UK). All surgical procedures were performed according to the same principles as well as the pattern Authors have previously adopted from the very beginning of their own experience with the Versius system. In all cases, three robotic ports were used: a single 12 mm trocar for optics (openly inserted at the level of the umbilicus) and two 5 mm trocars for robotic manipulators. Additionally, a 5-mm laparoport was installed for the assistant to work during the robotic operation. The study recorded patients' perioperative parameters related to demographics, surgical details and both early- and long-term outcomes. Results: 19 patients were included in the study (11 (58 [34; 80]%) boys/8 (42 [20; 66]%) girls) with the age the surgery was performed in 10.4±4.2 years old (median - 10.0 [7.0; 14.5] y/o) and the weight at the surgery 41.0±16.2 kg (median - 41.0 [27.0; 54.3] kg). Robot-assisted operations in pediatric urology were represented by the following procedures: pyeloplasty in 6 (32 [13; 57]%); removal of a kidney cyst in 5 (26 [9; 51]%); nephrectomy in 4 (21 [6; 46]%); Hellström-Chapman in 1 (5 [0; 26]%) and resection of the bladder diverticulum in 1 (5 [0; 26]%) patient. The mean duration of surgical intervention was 142.2±49.7 min (median - 140.0 [110.0; 160.0] min). Interventions were not accompanied by intraoperative complications. No significant complications were noted in both early and late postoperative periods. Conclusion: initial experience with robotic-assisted surgery confirmed that robotics can be safely and effectively used in children with urological pathology.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"5 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957837","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":"Modern approaches to solving old problems of neonatology: lessons from history","authors":"N. N. Volodin","doi":"10.24110/0031-403x-2024-103-1-10-15","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-10-15","url":null,"abstract":"Neonatology in Russia had demonstrated significant success over the past three decades that in its turn has led to an unprecedented decrease in infant mortality rates primarily due to a decrease in early-neonatal and neonatal mortalities. These achievements were mostly caused by the implementation of the “Healthcare” national project with a large number of perinatal centers being deployed overall Russia, introduction of a multi-level system for providing care to pregnant women from high-risk groups, with high-quality diagnostic and therapeutic equipment installed therein coupled with life-saving drugs availability. Which is more important is that Russian domestic manufacturers have significantly succeeded during the mentioned period in the production of high-tech medical equipment and consumables as well as drugs that are in use in neonatology with some of them having none of its kind abroad.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"2 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957851","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":"Assessment of the level of neurotrophic factors VEGF, BDNF, β-NGF in newborns with transient tachypnea in comparison with healthy children","authors":"E. Shestak, O. P. Kovtun, V. Bazarnyi, L. Polushina, A. Maximova","doi":"10.24110/0031-403x-2024-103-1-49-57","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-49-57","url":null,"abstract":"Cerebral damage in a newborn can occur as due to various reasons that include respiratory disorders in transient tachypnea of newborns (TTN). Hypoxic-ischemic brain damage is characterized not only by the clinical picture and morphological changes during neuroimaging, but also by biochemical changes in the body. The purpose of the research was to evaluate the level of neurotrophic factors in patients with TTN. Materials and methods used: a single-center cohort prospective clinical study was conducted; patients in the study and control groups were recruited using a continuous method. The levels of three factors were analyzed: vascular endothelial growth factor (VEGF), brain-derived neurotrophic factor (BDNF) and nerve growth factor beta (β-NGF). For the study, Authors have used a Multiscan Go enzyme immunoassay device (photometer) by Thermo Scientific (USA) and commercial test systems: Chemikine BDNF ELISA Kit by Chemicon (USA), RayBio Human β-NGF ELISA Kit by RayBio® (USA) and Invitrogen Human beta-VEGF-A ELISA Kit by Invitrogen™ (Austria). The research duration was over 6 months in 2021. Blood sampling for the 1st study of neurotrophic factors was carried out 6-12 hours after birth in 85 patients with TTN and 20 healthy newborns in the control group. The 2nd study was conducted in 23 patients with TTN on days 5-10 of life who have been admitted at the neonatal pathology department. Results: in patients with TTN, as well as with TTN in combination with cerebral ischemia at birth, the level of β-NGF was statistically significantly lower compared to healthy newborns (3152 (27; 4680) and 4056 (2484; 5286) pg/ml versus 5230 (4373-5815) pg/ml, p˂0.001 and p=0.028, respectively). However, after 5-10 days of life, the levels of β-NGF in healthy and sick newborns had no statistically significant differences. The presence of TTN at birth was statistically significantly associated with the development of cerebral ischemia in newborns (p=0.004). The ROC analysis made it possible to determine the cut-off point for the β-NGF level to detect TTN (cut-off=12.2 pg/ml), with ROC-AUC=0.79±0.054 (95% CI 0.686-0.898, p˂0.001). Conclusion: despite rapid regression of respiratory impairment in patients with TTN, there is still a significant impact on CNS function as evidenced by decreased levels of nerve growth factor beta (β-NGF). The restoration of β-NGF levels in patients with TTN with cerebral ischemia and without this diagnosis to the levels of healthy newborns may indicate that, despite the significant effect of respiratory failure on the depression of nerve growth factor, the normalization of the activity of neurotrophic processes is ongoing.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"21 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140438897","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":"Advanced neonatal screening for hereditary diseases in Russia: first results and future prospects","authors":"S.V. Voronin, E. Zakharova, G.V. Baydakova, A. Marakhonov, O. Shchagina, O. Ryzhkova, N. Shilova, A. G. Rumyantsev, A. Shcherbina, A. Mukhina, G. Novichkova, E. L. Sheshko, V.V. Saharova, E.A. Lyakhova, I.Yu. Efimova, S. I. Kutsev","doi":"10.24110/0031-403x-2024-103-1-16-29","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-16-29","url":null,"abstract":"Under the implementation of the “Advanced neonatal screening” Federal Program and the Ministry of Healthcare of Russia Order No. 274n “On approval of the Procedure for providing medical care to patients with congenital and/or hereditary diseases” that started jointly on Jan. 01, 2023 overall Russia, the examination of all newborns for the 29 nosologies of exchange disorders by tandem mass spectrometry as well as spinal muscular atrophy and primary immunodeficiencies by polymerase chain reaction had begun. Circa 1 million and 230 thousand newborns were examined in 85 Russia regions during 2023 with the level of births coverage exceeding 98%. As a result, a risk group that amounted to 1.86% of all examined was formed with confirming diagnostics performed for 8712 neonatal patients at risk, of which 676 have had their deceases confirmed including 379 hereditary metabolic diseases, 117 spinal muscular atrophies and 180 primary immunodeficiencies. Effective treatment and dispensary follow-up methods have been developed so far for all the screened nosologies. Thus, the introduction of the neonatal screening made it possible to initiate therapy for most of the identified patients at preclinical stages reducing the overall infant mortality and improving the quality of life for such patients and their caretakers.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"7 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957831","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 case of deadly poisoning with flammable fluid used to accelerate the ignition of charcoal in a barbecue grill in a two years old boy","authors":"T.A. Terekhina, A. V. Dmitriev, R. A. Gudkov, V.V. Smirnova, A.R. Borycheva, A.D. Gurina, A. Zaplatnikov","doi":"10.24110/0031-403x-2024-103-1-184-189","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-184-189","url":null,"abstract":"Clinical case observation of a deadly poisoning with flammable fluid used to accelerate the ignition of charcoal in a barbecue grill in a two years old boy and a brief bibliographical overview dedicated to it are presented in the Article. Unfortunate poisonings by hydrocarbons that are products of oil refining are common Worldwide, mainly among the children under 5 years old. Flammable fluid used to accelerate the ignition of charcoal in a barbecue grill, which is a mixture of extreme hydrocarbons, is not an uncommon cause of children poisoning in Russia though. A two years old boy was hospitalized in the ICU of regional children’s hospital just some 2 hours after ingesting the flammable fluid; cough was noted; there was no vomiting. 3 hours after the admission, the body temperature increased, the clinical picture of respiratory failure and depression syndrome had developed. During the intensive care, which included non-invasive respiratory support, infusion and antibacterial therapy, there was an improvement in the patient’s condition noted, which after 7 hours was replaced by a sharp increase in respiratory failure, which in its turn had required intubation and ventilation. The condition was not stable the following several days, hemodynamic disorders, DIC syndrome were noted. 3 weeks after initial admission a pneumothorax clinical picture had developed with extensive both-sided pneumatocele detected in RCT. The fatal outcome occurred on the 28th day when increasing symptoms of multiple organ failure was recorded. The presented case demonstrates the extreme severity of lung damage with massive destruction coupled with bacterial pneumonia.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"11 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957590","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":"Manifestations of clinical polymorphism of myotonic dystrophy type 1: the two familial cases","authors":"E. K. Erokhina, E. A. Melnik, K. Shamtieva, K.V. Vlodavets, D.O. Kazakov, S. Artemyeva, Yu. O. Papina, S. Kurbatov","doi":"10.24110/0031-403x-2024-103-1-174-179","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-174-179","url":null,"abstract":"Myotonic dystrophy type 1 (DM1) is one of the most common hereditary forms of MD both among adult patients and in pediatric practice. Due to clinical heterogeneity as well as polymorphism of symptoms in different forms of DM1 there is a problem of insufficient detection of this disease. An earlier onset and a more severe course usually suggest maternal inheritance of the disease, as is clearly shown in the first clinical case described in the Article. However, the other described case demonstrates the phenomenon of anticipation that can be traced during the transmission of DM1 on the paternal side, which is not typical for DM1. The two presented clinical cases, in addition to muscle symptoms, demonstrate many manifestations from various organs and systems, including heart rhythm disturbances, respiratory failure, breathing disorders during sleep, cognitive and emotional disorders, early cataracts, diabetes mellitus, gastrointestinal tract dysfunction, orthopedic complications. Focal white matter lesions and cortical atrophy identified by neuroimaging using magnetic resonance imaging in patients from the presented cases were not associated with the presence of neuropsychological disorders. The multisystem nature of manifestations confirms the need for increasing awareness of healthcare specialists about this disease as well as the monitoring of patients with DM1 by a multidisciplinary team of experts.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"10 31","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957626","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":"Message from the Rector of the Pirogov Russian National Research Medical University, Academician S.A. Lukyanov","authors":"S. A. Lukyanov","doi":"10.24110/0031-403x-2024-103-1-8-9","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-8-9","url":null,"abstract":"Message from the Rector of the Pirogov Russian National Research Medical University, Academician S.A. Lukyanov.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"10 26","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957630","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}