O. Bugun, G. P. Bogonosova, T. A. Astakhova, T. Bairova, N.N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Y. S. Livadarova, Nanalya I. Sysoeva
Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders. Determination of specific metabolites in biological fluids and molecular genetic testing are crucial to diagnose this disease. Timely diagnosis mainly determines the treatment efficacy and, therefore, the prognosis of MMA development. Clinical case description. Two siblings with MMA caused by methylmalonyl-CoA mutase deficiency (OMIM #251000) have shown duplication chr6-49459106-T-TA: NM_000255.4c.360dupT (p.Lys121fs) in homozygous state in exon 2 of the MMUT gene. The disease was diagnosed in the first child with underlying metabolic crisis that finally led to irreversible changes in organs and systems and lethal outcome. The diagnosis in the second child was established antenatally, thus, therapy was initiated from the first day of life. Favorable clinical course of the disease was observed during 5 months of follow-up. Conclusion. Timely MMA diagnosis (antenatal or during neonatal screening) is crucial for effective management and relatively favorable life prognosis for infants.
{"title":"Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases","authors":"O. Bugun, G. P. Bogonosova, T. A. Astakhova, T. Bairova, N.N. Martynovich, Darya M. Barycova, Tatyana Y. Belkova, Y. S. Livadarova, Nanalya I. Sysoeva","doi":"10.15690/vsp.v23i2.2724","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2724","url":null,"abstract":"Background. Methylmalonic aciduria (MMA) is a rare disease from the group of hereditary metabolic diseases. The MMA clinical picture is polymorphic and meanwhile similar to other metabolic disorders. Determination of specific metabolites in biological fluids and molecular genetic testing are crucial to diagnose this disease. Timely diagnosis mainly determines the treatment efficacy and, therefore, the prognosis of MMA development. Clinical case description. Two siblings with MMA caused by methylmalonyl-CoA mutase deficiency (OMIM #251000) have shown duplication chr6-49459106-T-TA: NM_000255.4c.360dupT (p.Lys121fs) in homozygous state in exon 2 of the MMUT gene. The disease was diagnosed in the first child with underlying metabolic crisis that finally led to irreversible changes in organs and systems and lethal outcome. The diagnosis in the second child was established antenatally, thus, therapy was initiated from the first day of life. Favorable clinical course of the disease was observed during 5 months of follow-up. Conclusion. Timely MMA diagnosis (antenatal or during neonatal screening) is crucial for effective management and relatively favorable life prognosis for infants.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"274 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141012938","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}
R. A. Mukozheva, T. Kulichenko, Liudmila Yu. Semavina, Vera I. Bosikova, Alexandra V. Uarova
Background. It was revealed in 2020 that immunization of children in decreed times in several subjects of Russian Federation was below the standard level. Therefore, monitoring of timely vaccination in children of these regions was relevant. Objective. The aim of the study is to evaluate changes in the timeliness of vaccination in children of two subjects of Russian Federation with low immunization rates according to 2020 data. Methods. Immunization of children born in 2015–2017 and 2020–2022 were studied according to the form of federal statistical monitoring (FFSM) No. 6 and vaccination record cards (form No. 063/y) obtained from children's polyclinics of the Republic of Bashkortostan (two in 2020 and three in 2023) and the Republic of Sakha (Yakutia) (two in 2020 and four in 2023). The vaccination timeliness among children against infections from the national immunization schedule (NIS) list was determined. The timeliness of vaccination was evaluated by the proportion of children who received the required number of vaccine doses against each of the infection from the NIS list by the decreed age among all persons of the decreed age. Results. Data from 998 records was analyzed. The increase in timely vaccination against all vaccine-controlled infections in children was revealed. The proportion of children vaccinated according to the NIS has increased by 1.5–4 times. Timely vaccination of 95% children in the decreed age (by FFSM No. 6) was achieved in the Republic of Sakha (Yakutia) against tuberculosis, hepatitis B, measles, rubella, and mumps, and in the Republic of Bashkortostan against measles, rubella, and mumps. The increase in the multivalent vaccines’ usage and simultaneous administration of several vaccines has been discovered. Conclusion. Monitoring the level of documented immunization and timely vaccination in children allows effectively control routine immunization quality. Implementation of multivalent vaccines and simultaneous administration of several vaccines in routine immunization provides radical change in the vaccination rate in pediatric population.
{"title":"Dynamics of Timely Vaccination Among Tender-Age Infants in two Subjects of Russian Federation with the Lowest Immunization Coverage in 2020: Serial Cross-Sectional Study","authors":"R. A. Mukozheva, T. Kulichenko, Liudmila Yu. Semavina, Vera I. Bosikova, Alexandra V. Uarova","doi":"10.15690/vsp.v23i2.2748","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2748","url":null,"abstract":"Background. It was revealed in 2020 that immunization of children in decreed times in several subjects of Russian Federation was below the standard level. Therefore, monitoring of timely vaccination in children of these regions was relevant. Objective. The aim of the study is to evaluate changes in the timeliness of vaccination in children of two subjects of Russian Federation with low immunization rates according to 2020 data. Methods. Immunization of children born in 2015–2017 and 2020–2022 were studied according to the form of federal statistical monitoring (FFSM) No. 6 and vaccination record cards (form No. 063/y) obtained from children's polyclinics of the Republic of Bashkortostan (two in 2020 and three in 2023) and the Republic of Sakha (Yakutia) (two in 2020 and four in 2023). The vaccination timeliness among children against infections from the national immunization schedule (NIS) list was determined. The timeliness of vaccination was evaluated by the proportion of children who received the required number of vaccine doses against each of the infection from the NIS list by the decreed age among all persons of the decreed age. Results. Data from 998 records was analyzed. The increase in timely vaccination against all vaccine-controlled infections in children was revealed. The proportion of children vaccinated according to the NIS has increased by 1.5–4 times. Timely vaccination of 95% children in the decreed age (by FFSM No. 6) was achieved in the Republic of Sakha (Yakutia) against tuberculosis, hepatitis B, measles, rubella, and mumps, and in the Republic of Bashkortostan against measles, rubella, and mumps. The increase in the multivalent vaccines’ usage and simultaneous administration of several vaccines has been discovered. Conclusion. Monitoring the level of documented immunization and timely vaccination in children allows effectively control routine immunization quality. Implementation of multivalent vaccines and simultaneous administration of several vaccines in routine immunization provides radical change in the vaccination rate in pediatric population.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"309 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141012202","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}
D. Ivanov, K. Moiseeva, K. Mezhidov, Vadim K. Yuriev, Kseniya G. Shevtsova, A. Alekseeva, Vyacheslav M. Bolotskikh
Background. Despite the clear trend towards infant mortality decrease in our country, there are significant differences in values in some federal districts and regions of Russian Federation. Thus, the assessment of infant mortality rates and health indicators is crucial topic of scientific analysis. Objective. The aim of the study is to investigate selected child health indicators and infant mortality rates in the Chechen Republic. Methods. We have conducted the retrospective cross-sectional study of infant mortality rates, prematurity incidence, infant and newborn morbidity, and mortality of children born sick or got sick. The study was based on the data from official statistics and from the extraction of statistical reporting forms No. 12 and No. 32. Results. The Chechen Republic belongs to the regions with high infant mortality rate, however, it has decreased by 11.6% from 6.9 to 6.1‰ in 2018–2022. The major diseases causing lethal outcomes in infants in this region, and in Russia as a whole, were certain conditions that occur in the perinatal period, and congenital disorders. Meanwhile, mortality from respiratory diseases and some infectious and parasitic diseases exceeded the national average. Prematurity incidence in the republic was 1.5 times lower than the national average, newborns morbidity was 1.7 times lower, infants morbidity was 4.0 times lower. Trend analysis has revealed that prematurity incidence and newborns morbidity have slightly changed over 5 years (+2.2% and –1.0%), while infants morbidity had significant trend (–40.2%). All morbidity rates of children who died at the age under 1 year were significantly lower than the national average for all classes of diseases that are the most common for infants mortality. The mortality rates among children born sick or got sick were on average 5.4 times higher than similar indicators in Russia. The highest mortality rate was observed among children who died from perinatal conditions, congenital disorders, external causes, and some infectious and parasitic diseases. The level of the maternal and child health service performance was 0.44 on average over the 5-year interval, that corresponds to the average level of efficacy. Conclusion. This study has allowed to reveal that there is an urge to improve the organization of medical care for infants in the Chechen Republic.
{"title":"Infant Mortality in the Chechen Republic: Comparative Analysis and Major Trends","authors":"D. Ivanov, K. Moiseeva, K. Mezhidov, Vadim K. Yuriev, Kseniya G. Shevtsova, A. Alekseeva, Vyacheslav M. Bolotskikh","doi":"10.15690/vsp.v23i2.2741","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2741","url":null,"abstract":"Background. Despite the clear trend towards infant mortality decrease in our country, there are significant differences in values in some federal districts and regions of Russian Federation. Thus, the assessment of infant mortality rates and health indicators is crucial topic of scientific analysis. Objective. The aim of the study is to investigate selected child health indicators and infant mortality rates in the Chechen Republic. Methods. We have conducted the retrospective cross-sectional study of infant mortality rates, prematurity incidence, infant and newborn morbidity, and mortality of children born sick or got sick. The study was based on the data from official statistics and from the extraction of statistical reporting forms No. 12 and No. 32. Results. The Chechen Republic belongs to the regions with high infant mortality rate, however, it has decreased by 11.6% from 6.9 to 6.1‰ in 2018–2022. The major diseases causing lethal outcomes in infants in this region, and in Russia as a whole, were certain conditions that occur in the perinatal period, and congenital disorders. Meanwhile, mortality from respiratory diseases and some infectious and parasitic diseases exceeded the national average. Prematurity incidence in the republic was 1.5 times lower than the national average, newborns morbidity was 1.7 times lower, infants morbidity was 4.0 times lower. Trend analysis has revealed that prematurity incidence and newborns morbidity have slightly changed over 5 years (+2.2% and –1.0%), while infants morbidity had significant trend (–40.2%). All morbidity rates of children who died at the age under 1 year were significantly lower than the national average for all classes of diseases that are the most common for infants mortality. The mortality rates among children born sick or got sick were on average 5.4 times higher than similar indicators in Russia. The highest mortality rate was observed among children who died from perinatal conditions, congenital disorders, external causes, and some infectious and parasitic diseases. The level of the maternal and child health service performance was 0.44 on average over the 5-year interval, that corresponds to the average level of efficacy. Conclusion. This study has allowed to reveal that there is an urge to improve the organization of medical care for infants in the Chechen Republic.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"256 1‐4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141012967","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}
Background. Psoriasis and vitiligo are chronic, relatively common dermatological diseases. Meanwhile, their combination in children is rare. The combination of psoriasis and vitiligo in a child with Sotos syndrome has not been previously described. Clinical case description. The boy, 10 years old, was hospitalized with complaints (according to his mother) of rashes on the scalp, body, and limbs, with mild itching that was not related to the time of day. The pathological skin process was widespread. The patient was hyperactive, restless, emotionally labile, irritable. Complaints of rashes was mentioned firstly at the age of 7. Sotos syndrome was established at the age of 8 (variant c.6559C>T (p.Arg2187Ter) in 23 exon of the NSD1 gene (5q35.3), autosomal dominant type of inheritance (pathological allele de novo)). Psoriasis vulgaris was diagnosed with secondary vitiligo (localized form) at the age of 8.5 years. Symptomatic antipruritic and external pathogenetic therapy was performed in the hospital. Phototherapy was not prescribed due to the relative contradiction (small retrocerebral cyst) and the peculiarities of major disease (hyperactivity, restlessness) that complicated to place the child in the phototherapy booth. Positive dynamics was noted during the treatment (14 days): no itching, decrease of peeling severity, flattening and blanching of psoriatic rash elements to spots of post-inflammatory hypopigmentation. The lesion (focus of depigmentation) on the right knee joint skin remained unchanged. The patient was discharged to outpatient care. The prognosis for Sotos syndrome and skin lesions is favorable. Conclusion. The first medical observation of the child with Sotos syndrome burdened with psoriasis and vitiligo is presented. The pathogenetic correlation of these diseases is not clearly defined. Management of such cases requires the joint collaboration of dermatologists, geneticists and pediatricians.
{"title":"Combination of Psoriasis and Vitiligo in a Child with Sotos Syndrome: Clinical Case","authors":"E. Efanova, Daria G. Taskaeva","doi":"10.15690/vsp.v23i2.2742","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2742","url":null,"abstract":"Background. Psoriasis and vitiligo are chronic, relatively common dermatological diseases. Meanwhile, their combination in children is rare. The combination of psoriasis and vitiligo in a child with Sotos syndrome has not been previously described. Clinical case description. The boy, 10 years old, was hospitalized with complaints (according to his mother) of rashes on the scalp, body, and limbs, with mild itching that was not related to the time of day. The pathological skin process was widespread. The patient was hyperactive, restless, emotionally labile, irritable. Complaints of rashes was mentioned firstly at the age of 7. Sotos syndrome was established at the age of 8 (variant c.6559C>T (p.Arg2187Ter) in 23 exon of the NSD1 gene (5q35.3), autosomal dominant type of inheritance (pathological allele de novo)). Psoriasis vulgaris was diagnosed with secondary vitiligo (localized form) at the age of 8.5 years. Symptomatic antipruritic and external pathogenetic therapy was performed in the hospital. Phototherapy was not prescribed due to the relative contradiction (small retrocerebral cyst) and the peculiarities of major disease (hyperactivity, restlessness) that complicated to place the child in the phototherapy booth. Positive dynamics was noted during the treatment (14 days): no itching, decrease of peeling severity, flattening and blanching of psoriatic rash elements to spots of post-inflammatory hypopigmentation. The lesion (focus of depigmentation) on the right knee joint skin remained unchanged. The patient was discharged to outpatient care. The prognosis for Sotos syndrome and skin lesions is favorable. Conclusion. The first medical observation of the child with Sotos syndrome burdened with psoriasis and vitiligo is presented. The pathogenetic correlation of these diseases is not clearly defined. Management of such cases requires the joint collaboration of dermatologists, geneticists and pediatricians.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141011338","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}
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary electrical heart disease characterized by the development of polymorphic (including bidirectional) ventricular tachycardia in response to adrenergic stimulation. The leading clinical sign of CPVT is syncope provoked by physical or emotional stress, or adrenergic drugs administration. This disease is characterized by high mortality if not treated. The main treatment approach for CPVT is drug therapy with beta-blockers. Recently, however, there are more and more works stating that beta-blockers have lack of efficacy. Combination therapy with the antiarrhythmic drug of the IC class is one of the approaches before implementing the interventional treatment methods in several patients. Interventional methods include cardioverter defibrillator implantation and left side sympathectomy. This paper presents the modern view on the efficacy, safety, and indications for every management method for patients with CPVT.
儿茶酚胺能多形性室速（CPVT）是一种原发性心电疾病，其特征是在肾上腺素能刺激下出现多形性（包括双向性）室速。CPVT 的主要临床表现是因身体或情绪紧张或服用肾上腺素能药物而引起的晕厥。这种疾病如果得不到治疗，死亡率很高。CPVT 的主要治疗方法是使用β-受体阻滞剂进行药物治疗。然而，最近越来越多的研究表明，β-受体阻滞剂缺乏疗效。与 IC 类抗心律失常药物联合治疗是对一些患者实施介入治疗方法之前的方法之一。介入治疗方法包括心律转复除颤器植入术和左侧交感神经切除术。本文就 CPVT 患者每种治疗方法的有效性、安全性和适应症提出了现代观点。
{"title":"Management of Catecholaminergic Polymorphic Ventricular Tachycardia","authors":"E. Kulbachinskaya, V.V. Bereznitskaya","doi":"10.15690/vsp.v23i2.2740","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2740","url":null,"abstract":"Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary electrical heart disease characterized by the development of polymorphic (including bidirectional) ventricular tachycardia in response to adrenergic stimulation. The leading clinical sign of CPVT is syncope provoked by physical or emotional stress, or adrenergic drugs administration. This disease is characterized by high mortality if not treated. The main treatment approach for CPVT is drug therapy with beta-blockers. Recently, however, there are more and more works stating that beta-blockers have lack of efficacy. Combination therapy with the antiarrhythmic drug of the IC class is one of the approaches before implementing the interventional treatment methods in several patients. Interventional methods include cardioverter defibrillator implantation and left side sympathectomy. This paper presents the modern view on the efficacy, safety, and indications for every management method for patients with CPVT.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"325 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141012013","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}
A. I. Khavkin, A. V. Nalyotov, D. I. Masyuta, R. Makhmutov
The pathogenesis of inflammatory bowel diseases still remains unclear nowadays. Genetic disposition, impaired immune regulation, disturbance in intestinal microbiota composition, exposure to environmental factors are associated with the development of inflammation in intestinal mucosa and increased epithelial penetrance that define disease's development and progression. There is a theory in scientific literature that vitamin D deficiency (among other environmental factors) increases the risk of inflammatory bowel disease. However, the role of vitamin D in the development of gastrointestinal tract diseases remains poorly studied. This article presents current data on the vitamin D effect on the intestinal mucosa barrier function, on the immune system and on the intestinal microbiota in the context of inflammatory bowel diseases pathogenesis.
如今，炎症性肠病的发病机制仍不清楚。遗传倾向、免疫调节功能受损、肠道微生物群组成紊乱、暴露于环境因素等因素与肠道粘膜炎症的发生和上皮穿透性增加有关，这些因素决定了疾病的发生和发展。科学文献中有一种理论认为，缺乏维生素 D（以及其他环境因素）会增加患炎症性肠病的风险。然而，关于维生素 D 在胃肠道疾病发病中的作用的研究仍然很少。本文介绍了目前有关维生素 D 在炎症性肠病发病机制中对肠道粘膜屏障功能、免疫系统和肠道微生物群的影响的数据。
{"title":"Role of Vitamin D in the Pathogenesis of Inflammatory Bowel Diseases: Literature Review","authors":"A. I. Khavkin, A. V. Nalyotov, D. I. Masyuta, R. Makhmutov","doi":"10.15690/vsp.v23i2.2722","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2722","url":null,"abstract":"The pathogenesis of inflammatory bowel diseases still remains unclear nowadays. Genetic disposition, impaired immune regulation, disturbance in intestinal microbiota composition, exposure to environmental factors are associated with the development of inflammation in intestinal mucosa and increased epithelial penetrance that define disease's development and progression. There is a theory in scientific literature that vitamin D deficiency (among other environmental factors) increases the risk of inflammatory bowel disease. However, the role of vitamin D in the development of gastrointestinal tract diseases remains poorly studied. This article presents current data on the vitamin D effect on the intestinal mucosa barrier function, on the immune system and on the intestinal microbiota in the context of inflammatory bowel diseases pathogenesis.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"226 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141012671","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}
Background. The long-term effects of large intestine microbiota or its disorders on human health remain largely unexplored. Particularly the issue of an association between the intestinal microbiota in newborns and infants with their further neurodevelopment remains unclear. Objective. The aim of the study is to systematically summarize studies' results on the association of large intestine microbiota (its normal composition and in case of any disorders) in newborns and infants and their neurodevelopment until the age of 1 year. Methods. The search of publications was performed in the following databases: Medline, Web of Science (WoS), Scientific electronic library (eLIBRARY.RU), and CyberLeninka. The publication period was dated from January 2001 to May 2022 (until December 2021 for WoS). The review included studies that examined the an association of large intestine microbiota in newborns and infants with their neurodevelopment until the age of 1 year, the presence of nervous system pathology, behavioral and/or emotional disorders. Languages of analyzed publications were Russian and English. Results. The review includes data from 9 studies. Data on the association of the intestine microbiota (its composition and/or the number of microorganisms) with neurodevelopment at the early age is summarized. Conclusion. Large intestine microbiota of infants is regarded as new non-invasive biomarker of their neurodevelopment. Differences in the design of published original studies included in the systematic literature review do not allow us to assess the role of individual microbiota components in infant’s neurodevelopment.
{"title":"Association between Intestinal Microbiota in Infants and their Neurodevelopment: Systematic Literature Review on Scoping Review Methodology","authors":"O. G. Malygina, A. A. Usynina, Anna A. Makarova","doi":"10.15690/vsp.v23i1.2706","DOIUrl":"https://doi.org/10.15690/vsp.v23i1.2706","url":null,"abstract":"Background. The long-term effects of large intestine microbiota or its disorders on human health remain largely unexplored. Particularly the issue of an association between the intestinal microbiota in newborns and infants with their further neurodevelopment remains unclear. Objective. The aim of the study is to systematically summarize studies' results on the association of large intestine microbiota (its normal composition and in case of any disorders) in newborns and infants and their neurodevelopment until the age of 1 year. Methods. The search of publications was performed in the following databases: Medline, Web of Science (WoS), Scientific electronic library (eLIBRARY.RU), and CyberLeninka. The publication period was dated from January 2001 to May 2022 (until December 2021 for WoS). The review included studies that examined the an association of large intestine microbiota in newborns and infants with their neurodevelopment until the age of 1 year, the presence of nervous system pathology, behavioral and/or emotional disorders. Languages of analyzed publications were Russian and English. Results. The review includes data from 9 studies. Data on the association of the intestine microbiota (its composition and/or the number of microorganisms) with neurodevelopment at the early age is summarized. Conclusion. Large intestine microbiota of infants is regarded as new non-invasive biomarker of their neurodevelopment. Differences in the design of published original studies included in the systematic literature review do not allow us to assess the role of individual microbiota components in infant’s neurodevelopment.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"51 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140433245","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}
The article discusses classifications of medicines for gene and cell therapy. Data on medicinal products registered in Russia, as well as in the European Union countries, Great Britain, USA, and Japan is presented. The limitations on using such medicinal products were considered, including their high utilitarian cost and high risk of adverse events. The potential for increasing clinical efficacy and economic feasibility of advanced therapies (pediatrics included) has been analyzed.
{"title":"Advanced-Therapy Medicinal Products: Challenges for Implementation in Pediatric Clinical Practice","authors":"Y. Gomon, A. Kolbin","doi":"10.15690/vsp.v23i1.2654","DOIUrl":"https://doi.org/10.15690/vsp.v23i1.2654","url":null,"abstract":"The article discusses classifications of medicines for gene and cell therapy. Data on medicinal products registered in Russia, as well as in the European Union countries, Great Britain, USA, and Japan is presented. The limitations on using such medicinal products were considered, including their high utilitarian cost and high risk of adverse events. The potential for increasing clinical efficacy and economic feasibility of advanced therapies (pediatrics included) has been analyzed.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"9 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140432347","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}
N. Pimenova, E. Kashirskaya, Diana F. Sergienko, Dmitry A. Molev, Olga A. Tyurina, Anastasia V. Alekseeva, Sergey V. Chukarev
Background. Meconium ileus is one of the manifestations of cystic fibrosis. It is characterized by intestinal obstruction with viscous meconium leading to perforation and peritonitis. The issues of early diagnosis of cystic fibrosis, management of newborns with meconium ileus and negative neonatal screening for immunoreactive trypsinogen (IRT), as well as IRT decrease causes and mechanisms in patients with meconium ileus require further study. Clinical case description. Routine ultrasound examination at the 33rd week of gestation has shown signs of colon obstruction and meconium peritonitis in the intrauterine child. Surgical treatment of peritonitis was performed urgently on the 1st day after birth. The child was on mechanical ventilation from the 1st day of life. The child has shown signs of intrahepatic cholestasis with direct hyperbilirubinemia (up to 100 μmol/L) and signs of hemorrhagic syndrome (bleeding from injection sites) on the 8th day of life. Negative IRT blood test was received (21.6 ng/mL, normal value < 70 ng/mL) on the 10th day. The fecal elastase concentration was 45 μg/g (normal value > 200 μg/g) (on the same day). Sweat tests were performed on the 21st and 23rd days of life. They have shown high levels of sweat chlorides (112 mmol/L in both samples, normal value — 30–59 mmol/L). The diagnosis of «cystic fibrosis» was established, thus, dornase alfa (dosage — 2.5 mg/day) was added to the therapy. Conclusion. Meconium ileus is one of the specific intestinal manifestations of cystic fibrosis and it commonly can be complicated with intestinal perforation in the intrauterine child with further peritonitis. Children with meconium ileus require sweat tests regardless the neonatal screening results.
{"title":"Meconium Peritonitis in the Newborn with Cystic Fibrosis and Negative Neonatal Screening for Immunoreactive Trypsinogen: Clinical Case","authors":"N. Pimenova, E. Kashirskaya, Diana F. Sergienko, Dmitry A. Molev, Olga A. Tyurina, Anastasia V. Alekseeva, Sergey V. Chukarev","doi":"10.15690/vsp.v23i1.2653","DOIUrl":"https://doi.org/10.15690/vsp.v23i1.2653","url":null,"abstract":"Background. Meconium ileus is one of the manifestations of cystic fibrosis. It is characterized by intestinal obstruction with viscous meconium leading to perforation and peritonitis. The issues of early diagnosis of cystic fibrosis, management of newborns with meconium ileus and negative neonatal screening for immunoreactive trypsinogen (IRT), as well as IRT decrease causes and mechanisms in patients with meconium ileus require further study. Clinical case description. Routine ultrasound examination at the 33rd week of gestation has shown signs of colon obstruction and meconium peritonitis in the intrauterine child. Surgical treatment of peritonitis was performed urgently on the 1st day after birth. The child was on mechanical ventilation from the 1st day of life. The child has shown signs of intrahepatic cholestasis with direct hyperbilirubinemia (up to 100 μmol/L) and signs of hemorrhagic syndrome (bleeding from injection sites) on the 8th day of life. Negative IRT blood test was received (21.6 ng/mL, normal value < 70 ng/mL) on the 10th day. The fecal elastase concentration was 45 μg/g (normal value > 200 μg/g) (on the same day). Sweat tests were performed on the 21st and 23rd days of life. They have shown high levels of sweat chlorides (112 mmol/L in both samples, normal value — 30–59 mmol/L). The diagnosis of «cystic fibrosis» was established, thus, dornase alfa (dosage — 2.5 mg/day) was added to the therapy. Conclusion. Meconium ileus is one of the specific intestinal manifestations of cystic fibrosis and it commonly can be complicated with intestinal perforation in the intrauterine child with further peritonitis. Children with meconium ileus require sweat tests regardless the neonatal screening results.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140433065","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}
O. Smirnova, N. Vashakmadze, M. S. Karaseva, N. V. Zhurkova, A. Y. Rachkova, L. S. Namazova-Baranova
Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopathy. Biochemical tests, molecular genetic testing, and family screening play crucial role in the diagnosis of the disease. Specific pathogenetic treatment of FD includes enzyme replacement therapy (ERT) with recombinant medications of the lysosomal enzyme -galactosidase A. ERT initiation before the development of severe organs and systems’ damage contributes to its higher efficacy. This article covers various aspects of pathogenesis, clinical picture features in childhood, modern methods of diagnosis and management of FD according to literature data.
法布里病（FD）或安德森-法布里病（Andersen-Fabry disease）是一种罕见的遗传性溶酶体疾病（鞘磷脂贮积病），以进行性多系统受累为特征。儿童的主要症状是神经性疼痛/痛觉过敏、血管角化瘤、脱水或缺水、涡状角膜病变。生化检测、分子基因检测和家族筛查在疾病诊断中起着至关重要的作用。FD 的特定发病机制治疗包括使用溶酶体酶-半乳糖苷酶 A 的重组药物进行酶替代治疗（ERT）。本文根据文献资料介绍了 FD 的发病机制、儿童期临床表现特征、现代诊断和管理方法等各个方面。
{"title":"Modern Approach to Fabry Disease Diagnosis and Management in Children","authors":"O. Smirnova, N. Vashakmadze, M. S. Karaseva, N. V. Zhurkova, A. Y. Rachkova, L. S. Namazova-Baranova","doi":"10.15690/vsp.v23i1.2652","DOIUrl":"https://doi.org/10.15690/vsp.v23i1.2652","url":null,"abstract":"Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopathy. Biochemical tests, molecular genetic testing, and family screening play crucial role in the diagnosis of the disease. Specific pathogenetic treatment of FD includes enzyme replacement therapy (ERT) with recombinant medications of the lysosomal enzyme -galactosidase A. ERT initiation before the development of severe organs and systems’ damage contributes to its higher efficacy. This article covers various aspects of pathogenesis, clinical picture features in childhood, modern methods of diagnosis and management of FD according to literature data.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"5 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140432648","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}
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