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

{"title":"Dynamic observation of nine pediatric patients with Barth syndrome","authors":"N. Sdvigova, O. Zharova, L. A. Gandaeva, E. Basargina, O. B. Kondakova, I. Silnova, E. Vasichkina, A. Kostareva, A. Fisenko, A. Pushkov, K. Savostyanov","doi":"10.24110/0031-403x-2024-103-1-158-166","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-1-158-166","url":null,"abstract":"Barth syndrome (BS) is an orphan disease whose variability of clinical manifestations does not always allow its timely diagnosis, which in its turn reduces the quality of medical care and worsens the prognosis for outcomes. Currently there are some scientific publications in Russia on isolated cases of the disease and none of a kind dedicated to the long-term observation of patients with assessment of the clinical picture. The purpose of this research was to analyze the dynamics of clinical manifestations in children with BS. Materials and methods used: a cohort study included observation of 9 boys with BS in 2015-2022. Results: all patients with genetically confirmed BS were diagnosed with cardiomyopathy with non-compact myocardium, while a dilated remodeling phenotype was noted in 78% of cases. In 67% of children, against the background of complex drug therapy, a decrease in the size of the left ventricle with an increase in ejection fraction was recorded. Neutropenia was detected in 89% of patients, requiring the use of granulocyte colony-stimulating factor in two cases. Frequent detection of prolongation of the QT interval (78%) and ECG patterns simulating the phenomenon of pre-excitation against the background of intraventricular conduction disturbances, acceleration of AV conduction, secondary disturbances of repolarization processes (44%) without fixation of ventricular arrhythmias were noted. The severity of the condition was determined by a combination of severe heart failure, conduction disturbances and clinically significant neutropenia. Fatal outcomes were recorded in 2 children (22%) at the age of 8 months old and 3.5 years old against the background of progressive heart failure and sudden death, respectively. Conclusion: a comprehensive multidisciplinary approach and early diagnosis of BS have an impact on the outcome of the disease.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"11 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139957594","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":"Functional magnetic resonance imaging in the development of therapeutic approaches for obesity in pediatric practice","authors":"Y. Samoilova, M. Matveeva, D. Podchinenova, D. Kudlay, T. Vachadze, O. A. Loginova","doi":"10.24110/0031-403x-2023-102-6-128-133","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-128-133","url":null,"abstract":"There are over 1.9 billion with overweight and over 650 million obese people Worldwide (according to the latest WHO data). And every eighth school-age boy and every twentieth girl were reported obese in Russia (according to the Russian Federal Service for Supervision of Consumer Rights Protection and Human Well-Being 2021 data). The steady increase in obesity leads to the numerous consequences affecting children and their parents, including mental, physical and social health problems, which in its turn also affect the economic component of healthcare system and therefore require searching for the new preventive and therapeutic measurements. A number of studies have shown that multiple brain regions are recruited during food cueing tasks. Modern neuroimaging methods can significantly change the existing paradigms for the prevention and treatment of obesity. This bibliographical review is devoted to one of the modern neuroimaging methods, functional magnetic resonance imaging [PubMed 2008 to 2022] in children with overweight and obesity.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"245 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177500","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":"Neoplasms in children with Costello Syndrome: experience of the Russian Children's Clinical Hospital with the Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia (Moscow, Russia)","authors":"I. N. Skapenkov, A.Yu. Tveritneva, K.V. Shargina, Yu.S. Bogoroditskiy, M.S. Pulyayevskaya, N.A. Nedochukov","doi":"10.24110/0031-403x-2023-102-6-165-170","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-165-170","url":null,"abstract":"Costello Syndrome is an extremely rare genetic disorder caused by a mutation in the HRAS gene that encodes for a highly active protein that in its turn affects the cell growth and division. Patients have a unique phenotype and multiple developmental abnormalities that suggest the anomaly from the first days of life. The important feature of the disease is a predisposition to the development of neoplasms, both benign and malignant. This fact must obligatory be taken into consideration by physicians who are treating children with Costello Syndrome. Authors present the three clinical cases of children with Costello Syndrome coupled with neoplasms who underwent treatment at the Department of Surgical Treatment Methods of Oncology with the Russian Children's Clinical Hospital with the Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia (Moscow, Russia). The Authors’ experience in treating these patients, including a risk-adapted approach to therapy and early removal of detected formations, can be considered successful as yet. The descriptions of these clinical cases are of scientific and practical interest not only for pediatric oncologists but also for pediatricians, neurologists, cardiologists and other specialists due to the rarity of Costello Syndrome as they contribute to the formation of oncological vigilance.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"428 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177926","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":"Hereditary hypomagnesemias in children: pathogenesis, clinical picture and treatment approaches","authors":"S.V. Mikhailova, E.Yu. Zakharova, Y. Yurasova, E. E. Petryaykina","doi":"10.24110/0031-403x-2023-102-6-36-48","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-36-48","url":null,"abstract":"Hypomagnesaemias are the diseases characterized by the reduced level of magnesium in the body. The first mention of them appeared in the early XX century when cases in children were initially described as conditions accompanied by painful twitching in the muscles, weakness and heart rhythm disturbances, the reasons for which remained unknown for a long time. The scientific research in recent decades has only made it possible to decipher the diseases’ pathogenesis mechanisms. Primary hypomagnesaemias are hereditary monogenic diseases in which, as a result of a violation of magnesium metabolism in the body, its concentration decreases and the main clinical manifestations of the disease develop. The clinical picture of hypomagnesemia in children can be diverse and nonspecific. Early symptoms are manifested in the form of short-term involuntary painful contractions of muscles or muscle groups, weakness, cardiac arrhythmia and fatigue. As the disease progresses, more rather serious symptoms such as stunted growth, psychomotor development and epileptic seizures may occur. The severity of clinical manifestations of hereditary hypomagnesaemias correlates with the degree and duration of magnesium deficiency: from general weakness and crumpy syndrome to the development of depression of consciousness and in some cases of an unfavorable outcome. The main methods for confirmatory diagnosis of genetically determined hypomagnesaemias are molecular genetic methods. Authors represent bibliographical review and recent updates on known primary hypomagnesaemias in terms of mechanisms of pathogenesis and clinical presentation as well as their own familial case description of hypomagnesaemia in children.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"16 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178323","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":"Rare hereditary congenital heart defects and skeletal malformations syndrome: Russia’s first description of a clinical case","authors":"N. Demikova, Y. Kotalevskaya","doi":"10.24110/0031-403x-2023-102-6-191-195","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-191-195","url":null,"abstract":"Russia’s first description of the congenital heart defects and skeletal malformations syndrome (CHDSKM, https://www.omim.org/entry/617602) is presented. The disease is inherited in an autosomal dominant type and is caused by missense variants in the ABL1 gene in most cases, which is a proto-oncogene, which in its turn is encoding the cytoplasmic and nuclear protein tyrosine kinase. The data on the clinical manifestations of the syndrome is under accumulation as yet with only 19 clinical cases described in scientific sources that are forming a spectrum of frequently encountered symptoms. The description of the case facilitates to the accumulation of clinical diversity of symptoms of the disease contributing to its spectrum expansion and confirming the multisystemic nature of the disease’s clinical manifestations.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"403 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177580","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":"Diabetes mellitus and the cognitive functions in childhood and adolescence","authors":"Y. Samoilova, M. Matveeva, V. Yun, M. Koshmeleva, D. Kudlay, D. Galyukova, D.A. Kachanov, E. Trifonova, T. Sivolobova, V. Mutalimi","doi":"10.24110/0031-403x-2023-102-6-123-128","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-123-128","url":null,"abstract":"Type 1 diabetes mellitus (DM1) is widespread among children and adolescents in Russia. In addition to the pretty well-studied microvascular complications of the disease, scientific sources also describe the brain damage that is manifested by cognitive impairment. Despite the problem being studied actively by researchers Worldwide, they have reported mixed and sometimes contractionary results. Thus, as of now there are disputes about the etiology, pathogenesis, clinical manifestations and factors affecting the development of the abovementioned complications. Changes in the brain are registered at all age periods with special attention being fairly paid in childhood and adolescence because such disorders of carbohydrate metabolism during active growth can lead not only to functional, but also to structural changes in the brain. This is manifested by memory impairment and decreased attention concentration, which in its turn negatively affects the academic performance of schoolchildren and therefore reduces the quality of life of patients. Further study of this problem would help developing an algorithm for early diagnosis of cognitive impairment among children and adolescents with DM1 in order to increase compliance among patients, reduce the risk of microvascular complications and possible disability in older age. A promising direction in the diagnosis of cognitive disorders are neuroimaging methods, which, as opposed to neuropsychological tests, are helping to identify morphofunctional changes in the brain. This bibliographical review describes the etiology of cognitive disorders in children and adolescents with DM1, the main variants of cognitive dysfunction, the effect of the disease on schooling performance and neuroimaging disorders of the brain.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"475 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177648","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":"ANTI-FACTOR H ANTIBODY ASSOCIATED ATYPICAL HEMOLYTIC-UREMIC SYNDROME IN CHILDREN: CLINICAL PROFILE, DIAGNOSIS AND TREATMENT","authors":"S. Baiko","doi":"10.24110/0031-403x-2023-102-6-88-104","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-88-104","url":null,"abstract":"Atypical hemolytic uremic syndrome (aHUS) refers to one of the forms of thrombotic microangiopathy occurring with preferred damage to the kidneys. About 10% of all cases of aHUS in children are aHUS associated with antibodies to complement factor H (CFH-Ab-aHUS). In 90% of cases CFH-Ab-aHUS is represented by DEAP-HUS (Deficiency of Complement Factor H Related (CFHR) plasma proteins and Autoantibody Positive Hemolytic Uremic Syndrome) with a predominant deficiency of CFHR1, most often due to a homozygous deletion of CFHR3/CFHR1. CFH-Ab-aHUS is characterized by the age of onset of the disease of 4 to 12 years old; the presence of a prodrome, more often associated with gastrointestinal disorders such as vomiting and abdominal pain, less often diarrhea; relapsing course with a high risk in the first 6 months from the onset of the disease, a high proportion of adverse outcomes: death of the patient or development of end stage chronic kidney disease (CKD). Determination of the CFH-Ab titer should be performed in all children with HUS, and in case of their increase, regularly monitored during treatment. Treatment begins with eculizumab or its biosimilar until a CFH-Ab titer is obtained and, if CFH-Ab-aHUS is confirmed, it is necessary to switch to intensive plasma exchanges in combination with immunosuppressive therapy. If there are contraindications to immunosuppressive therapy or if there is no effect from it, if plasma exchanges are impossible or ineffective, if significant mutations in complement regulator genes are detected, it is necessary to continue or return to complement blocking therapy. After achieving remission of the disease, long-term monitoring of patients is required to control residual effects on the kidneys (hematuria, proteinuria, CKD) and the cardiovascular system (arterial hypertension, left ventricular myocardial hypertrophy). In patients who have reached the end stage of CKD, it is mandatory to determine the anti-CFH titer and conduct a molecular genetic research in order to determine the risks of the disease returning to the kidney graft and the need for prophylactic therapy with eculizumab or its biosimilar before and after the surgical intervention.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"589 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177678","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 Pearson syndrome in a 6-month-old child","authors":"T. Konyukhova, V.A. Gladkova","doi":"10.24110/0031-403x-2023-102-6-176-181","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-176-181","url":null,"abstract":"Pearson syndrome (PS) is a rare mitochondrial disorder that typically manifests as transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction and lactic acidosis. Typical features of the bone marrow in PS are reduced cellularity, vacuolation of hematopoietic precursors and ringed sideroblasts. PS clinical manifestations may differ in neonatal age and develop as damage to various organs and systems. The PS incidence is unknown as yet with only about 100 patients described in scientific sources since the initial report. The Article presents a modern bibliographical review on PS and a description of a clinical case in a 6-month-old child that had manifested since birth as transfusion-dependent anemia, leukopenia and thrombocytopenia. Conclusion: examination of bone marrow puncture allows rapid assuming of a PS diagnosis in a patient.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"179 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178457","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":"Guidelines for Practitioners: Duchenne Muscular Dystrophy (DMD). Becker Muscular Dystrophy (BMD). Early diagnosis. Therapy with the use of drugs that are currently not registered properly in Russia/by the Ministry of Healthcare of Russia","authors":"T. A. Gremyakova, I. V. Anisimova, S. Artemyeva, E. Baybarina, A. A. Baranov, E. D. Belousova, L. B. Brzhezinskaya, S.A. Butry, O.A. Varnakhina, N. D. Vashakmadze, I.Yu. Vdovenko, N.N. Vladimirova, D. V. Vlodavets, V. Gnetetskaya, T. A. Dvornikova, O. Groznova, V. Guzeva, E. Gusakova, E. Dadali, O. Gremyakova, N. V. Zhurkova, E.Yu. Zakharova, E. Zinina, V. Izhevskaya, N.G. Karpacheva, L. Kuzenkova, S. I. Kutsev, A. E. Lavrova, E.A. Liseicheva, S. V. Mikhaylova, L. P. Nazarenko, L. S. Namazova-Baranova, S. S. Nikitin, S.S. Paunova, N.L. Pechatnikоva, T. Podkletnova, E. Polevichenko, A. V. Polyakov, A. Ragozin, E.V. Romanenko, D. I. Rudenko, E.M. Tsvetkova, G. E. Sakbaeva, E. Sapego, N.S. Smirnova, O. Smirnova, A. A. Stepanov, V. M. Suslov, E. Tozliyan, A. G. Rumyantsev, N. I. Shakhovskaya, E. Shreder","doi":"10.24110/0031-403x-2023-102-6-217-256","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-217-256","url":null,"abstract":"Supplement to the 2023 Issue 6 (Volume 102) of the Journal PEDIATRIA named after G.N. Speransky. Guidelines for Practitioners: Duchenne Muscular Dystrophy (DMD). Becker Muscular Dystrophy (BMD). Early diagnosis. Therapy with the use of drugs that are currently not registered properly in Russia/by the Ministry of Healthcare of Russia. DOI: 10.24110/0031-403X-2023-102-6-217-256. https://doi.org/10.24110/0031-403X-2023-102-6-217-256","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"861 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178179","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 options for surgical correction of congenital choanal atresia in children in the first year of life","authors":"A. Asmanov, O.A. Breeva","doi":"10.24110/0031-403x-2023-102-6-209-211","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-209-211","url":null,"abstract":"For citation: A.I. Asmanov, O.A. Breeva. Modern options for surgical correction of congenital choanal atresia in children in the first year of life. Pediatria n.a. G.N. Speransky. 2023; 102 (6): 209-211. DOI: 10.24110/0031-403X-2023-102-6-209-211.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"277 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177490","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}