N. V. Zhurkova, N. Vashakmadze, Andrej N. Surkov, T. Turti, Kristina V. Bogdanova, Y. Kotalevskaya, E. Zakharova, L. S. Namazova-Baranova
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and adequate management due to its rarity, rapid progression, and the development of new pathogenetic therapy methods.Clinical case description. The disease manifested on the second month of the patient’s life with poor weight gain, frequent pneumonia, hepatosplenomegaly, diffuse muscular hypotonia, delayed motor development, and progressive neurological symptoms. Laboratory testing has revealed significant decrease in sphingomyelinase activity in blood. The heterozygous deletion c.996del in exon 2 of the SMPD1 gene has been revealed via direct automatic sequencing; it leads to frameshifting p.F333Sfs*52 (inherited from mother). Moreover, the previously described pathogenic nucleotide variant c.1252C>T (heterozygous) has been revealed in exon 3 of the SMPD1 gene; it leads to translation arrest p.Arg418* (inherited from father). Cherry-red spots were diagnosed at fundospcopy. The diagnosis of Niemann-Pick disease, type А was established according to clinical signs and molecular genetic testing results.Conclusion. The detection of physical and motor development delay, diffuse muscular hypotonia, hepatosplenomegaly, cherry-red spots at ophthalmological examination, lung involvement, recurrent pneumonia, and progressive neurological symptoms in a child during the first months of life indicates that this patient has Niemann-Pick disease, type А. Early molecular genetic testing is crucial for timely choosing the management approach and further genetic counselling of the family.
{"title":"Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient","authors":"N. V. Zhurkova, N. Vashakmadze, Andrej N. Surkov, T. Turti, Kristina V. Bogdanova, Y. Kotalevskaya, E. Zakharova, L. S. Namazova-Baranova","doi":"10.15690/vsp.v23i3.2762","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2762","url":null,"abstract":"Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and adequate management due to its rarity, rapid progression, and the development of new pathogenetic therapy methods.Clinical case description. The disease manifested on the second month of the patient’s life with poor weight gain, frequent pneumonia, hepatosplenomegaly, diffuse muscular hypotonia, delayed motor development, and progressive neurological symptoms. Laboratory testing has revealed significant decrease in sphingomyelinase activity in blood. The heterozygous deletion c.996del in exon 2 of the SMPD1 gene has been revealed via direct automatic sequencing; it leads to frameshifting p.F333Sfs*52 (inherited from mother). Moreover, the previously described pathogenic nucleotide variant c.1252C>T (heterozygous) has been revealed in exon 3 of the SMPD1 gene; it leads to translation arrest p.Arg418* (inherited from father). Cherry-red spots were diagnosed at fundospcopy. The diagnosis of Niemann-Pick disease, type А was established according to clinical signs and molecular genetic testing results.Conclusion. The detection of physical and motor development delay, diffuse muscular hypotonia, hepatosplenomegaly, cherry-red spots at ophthalmological examination, lung involvement, recurrent pneumonia, and progressive neurological symptoms in a child during the first months of life indicates that this patient has Niemann-Pick disease, type А. Early molecular genetic testing is crucial for timely choosing the management approach and further genetic counselling of the family.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"49 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141654248","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, Anastasiya A. Permyakova, M.O. Tsepilova, A. Kaplina, S. Sitkin, Andrej N. Surkov, Stanislav D. Getmanov
Nowadays, an urgent problem of pediatric gastroenterology is the study of inflammatory bowel diseases with very early onset (VEO-IBD), which have unique genetic, clinical, immunological, morphological, and laboratory sings. Early VEO-IBD is usually considered as monogenic disease, especially in combination with congenital immune defects, which leads to difficulties in diagnosis and management this pathology. Despite this, systematization of information about this group of nosological forms of IBD is practically not carried out. This article presents a review of the available information on etiological factors, course variants, and therapeutic options for VEO-IBD.
{"title":"Modern View on Very Early Onset and Early Onset Inflammatory Bowel Diseases in Children","authors":"A. I. Khavkin, Anastasiya A. Permyakova, M.O. Tsepilova, A. Kaplina, S. Sitkin, Andrej N. Surkov, Stanislav D. Getmanov","doi":"10.15690/vsp.v23i3.2768","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2768","url":null,"abstract":"Nowadays, an urgent problem of pediatric gastroenterology is the study of inflammatory bowel diseases with very early onset (VEO-IBD), which have unique genetic, clinical, immunological, morphological, and laboratory sings. Early VEO-IBD is usually considered as monogenic disease, especially in combination with congenital immune defects, which leads to difficulties in diagnosis and management this pathology. Despite this, systematization of information about this group of nosological forms of IBD is practically not carried out. This article presents a review of the available information on etiological factors, course variants, and therapeutic options for VEO-IBD.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"43 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141654855","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}
E. T. Ambarchyan, Anastasia D. Kuzminova, Totuy K. Eldarova, V. V. Ivanchikov, N. V. Zhurkova, N. Vashakmadze
Background. Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2 is a rare hereditary disease from the group of syndromic forms of ichthyosis. It is clinically characterized by triad of non-inflammatory follicular ichthyosis, total or subtotal alopecia at birth or shortly after, and photophobia of different severity. There is no etiotropic therapy for IFAP syndrome, while symptomatic treatment (emollients, keratolytics, retinoids) is aimed on stabilizing the patient’s condition and maintaining the optimal quality of life. About 60 cases of IFAP syndrome have been described worldwide by 2023, and none in Russia.Clinical case description. The girl, 2 years 3 months old, had signs of xeroderma, follicular hyperkeratosis, photophobia with lacrimation, and alopecia. The diagnosis of “ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2, autosomal dominant” was established according to anamnesis, clinical signs, and results of whole-exome sequencing, followed by validation of the identified nucleotide variant chr17:17720597G>A, p.1669C>T (p.Arg557Cys NM_001005291.2) in exon 9 of the SREBF1 gene via direct automatic sequencing in the patient and both parents (not revealed in her parents).Conclusion. Molecular genetic testing is crucial to establish IFAP syndrome as clinical signs of the disease are similar to other dermatoses. However, physicians need to have clinical suspicion when identifying cases of follicular ichthyosis in combination with alopecia and photophobia at or shortly after birth to timely diagnose IFAP syndrome and thus prevent any treatment delays.
{"title":"Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome, Type 2: Clinical Case","authors":"E. T. Ambarchyan, Anastasia D. Kuzminova, Totuy K. Eldarova, V. V. Ivanchikov, N. V. Zhurkova, N. Vashakmadze","doi":"10.15690/vsp.v23i3.2759","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2759","url":null,"abstract":"Background. Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2 is a rare hereditary disease from the group of syndromic forms of ichthyosis. It is clinically characterized by triad of non-inflammatory follicular ichthyosis, total or subtotal alopecia at birth or shortly after, and photophobia of different severity. There is no etiotropic therapy for IFAP syndrome, while symptomatic treatment (emollients, keratolytics, retinoids) is aimed on stabilizing the patient’s condition and maintaining the optimal quality of life. About 60 cases of IFAP syndrome have been described worldwide by 2023, and none in Russia.Clinical case description. The girl, 2 years 3 months old, had signs of xeroderma, follicular hyperkeratosis, photophobia with lacrimation, and alopecia. The diagnosis of “ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), type 2, autosomal dominant” was established according to anamnesis, clinical signs, and results of whole-exome sequencing, followed by validation of the identified nucleotide variant chr17:17720597G>A, p.1669C>T (p.Arg557Cys NM_001005291.2) in exon 9 of the SREBF1 gene via direct automatic sequencing in the patient and both parents (not revealed in her parents).Conclusion. Molecular genetic testing is crucial to establish IFAP syndrome as clinical signs of the disease are similar to other dermatoses. However, physicians need to have clinical suspicion when identifying cases of follicular ichthyosis in combination with alopecia and photophobia at or shortly after birth to timely diagnose IFAP syndrome and thus prevent any treatment delays.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"8 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141654367","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. S. Simakhodsky, L. D. Sevostyanova, Yulia V. Lukashоva, Natalya V. Petrova, O. A. Simakhodsky
Background. There have been negative trends in the birth rate and population growth decline in recent years. Forecasts from demographers are also not so encouraging as the next generation of childbearing age is one from the end of the last century which is characterized by low birth rate. Population mortality exceeded the birth rate during the years of challenging and questionable economic reforms. Moreover, there was a high level of chronic morbidity in child population, and physical development had the trend to retardation. Meanwhile under these circumstances, the President of Russian Federation and the Government adopted regulatory documents (decrees, dedicated programs) that determined the directions of state social policy on improving the situation with children in Russian Federation until 2000.Objective. The aim of the study is to evaluate the dynamics of several medical and social indicators of 2018–2023 characterizing demographic trends direction, with proposals on improving medical care in the maternal and child health care system.Methods. The study has covered reporting form No. 19 of Russian Federal State Statistics Service (Rosstat) for children’s outpatient clinics, form No. 14 for children’s hospitals, form No. 030/у “Check-list of dispensary observation”. The study has used the materials of the Presidential Coordination board meeting from November 15, 2016. Statistical data was obtained from the “Office of the Federal State Statistics Service for St. Petersburg and the Leningrad Region” (Petrostat) and the Center for Analysis and Forecast of Mother and Child Health at Health Committee of St. Petersburg, Medical Information and Analytical Center (“Major results in the field of health care in St. Petersburg”, 2019, 2020, 2021, 2022). Statistical processing was carried out via variational statistics methods (Pearson’s criterion, Fisher’s angular transformation criterion) and data from the automated system of prophylactic medical examination, registration certificate FSR No. 2009/05279, corresponding to the order of the Ministry of Health of Russian Federation No. 514н dated August 10, 2017.Results. The analysis of study results confirms the negative demographic patterns in St. Petersburg like the all-Russian. Increase assisted reproductive technologies was noted alongside with birth rate decrease. There are still high rates of stillbirth and perinatal mortality, as well as increased infant mortality rate. The correlation of depopulation processes with children’s health worsening and increasing disability is emphasized.Conclusion. The problems raised in this paper do not have an straightforward solution and require multimodal approach.
{"title":"Dynamics of Some Medical and Demographic Indicators in St. Petersburg During the Period from 2018 to 2023","authors":"A. S. Simakhodsky, L. D. Sevostyanova, Yulia V. Lukashоva, Natalya V. Petrova, O. A. Simakhodsky","doi":"10.15690/vsp.v23i3.2758","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2758","url":null,"abstract":"Background. There have been negative trends in the birth rate and population growth decline in recent years. Forecasts from demographers are also not so encouraging as the next generation of childbearing age is one from the end of the last century which is characterized by low birth rate. Population mortality exceeded the birth rate during the years of challenging and questionable economic reforms. Moreover, there was a high level of chronic morbidity in child population, and physical development had the trend to retardation. Meanwhile under these circumstances, the President of Russian Federation and the Government adopted regulatory documents (decrees, dedicated programs) that determined the directions of state social policy on improving the situation with children in Russian Federation until 2000.Objective. The aim of the study is to evaluate the dynamics of several medical and social indicators of 2018–2023 characterizing demographic trends direction, with proposals on improving medical care in the maternal and child health care system.Methods. The study has covered reporting form No. 19 of Russian Federal State Statistics Service (Rosstat) for children’s outpatient clinics, form No. 14 for children’s hospitals, form No. 030/у “Check-list of dispensary observation”. The study has used the materials of the Presidential Coordination board meeting from November 15, 2016. Statistical data was obtained from the “Office of the Federal State Statistics Service for St. Petersburg and the Leningrad Region” (Petrostat) and the Center for Analysis and Forecast of Mother and Child Health at Health Committee of St. Petersburg, Medical Information and Analytical Center (“Major results in the field of health care in St. Petersburg”, 2019, 2020, 2021, 2022). Statistical processing was carried out via variational statistics methods (Pearson’s criterion, Fisher’s angular transformation criterion) and data from the automated system of prophylactic medical examination, registration certificate FSR No. 2009/05279, corresponding to the order of the Ministry of Health of Russian Federation No. 514н dated August 10, 2017.Results. The analysis of study results confirms the negative demographic patterns in St. Petersburg like the all-Russian. Increase assisted reproductive technologies was noted alongside with birth rate decrease. There are still high rates of stillbirth and perinatal mortality, as well as increased infant mortality rate. The correlation of depopulation processes with children’s health worsening and increasing disability is emphasized.Conclusion. The problems raised in this paper do not have an straightforward solution and require multimodal approach.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"60 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141654400","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. Klochkova, D. A. Popkov, A. Mamedyarov, U. F. Mamedov
Single-Event Multilevel Surgery (SEMLS) is the standard for surgical correction of secondary orthopedic deformities in cerebral palsy (CP). SEMLS include simultaneous correction of soft tissue contractures, bone deformities, incomplete and complete joint dislocation to improve the gait and functional activity of patients with CP. The surgery volume determines the need for planned and long-term postoperative rehabilitation, however, there are no confirmed guidelines, neither Russian, nor foreign, on the patient’s management during postoperative period. This review provides an analysis of rehabilitation approaches after SEMLS at CP, offers recommendations on preparation and step-by-step postoperative restoration of motor function, and prevention of any associated complications.
{"title":"General Rehabilitation Principles for Patients with Cerebral Palsy After Single-Event Multilevel Surgery (SEMLS)","authors":"O. Klochkova, D. A. Popkov, A. Mamedyarov, U. F. Mamedov","doi":"10.15690/vsp.v23i3.2763","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2763","url":null,"abstract":"Single-Event Multilevel Surgery (SEMLS) is the standard for surgical correction of secondary orthopedic deformities in cerebral palsy (CP). SEMLS include simultaneous correction of soft tissue contractures, bone deformities, incomplete and complete joint dislocation to improve the gait and functional activity of patients with CP. The surgery volume determines the need for planned and long-term postoperative rehabilitation, however, there are no confirmed guidelines, neither Russian, nor foreign, on the patient’s management during postoperative period. This review provides an analysis of rehabilitation approaches after SEMLS at CP, offers recommendations on preparation and step-by-step postoperative restoration of motor function, and prevention of any associated complications.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"14 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141655110","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}
Andrej N. Surkov, L. S. Namazova-Baranova, Anna L. Arakelyan, E. E. Bessonov, N. V. Zhurkova
Glycogen storage disease type Ib (GSD Ib) is a rare and extremely severe disease included in the group of hereditary carbohydrate metabolism disorders. The condition is caused by pathogenic variants in the SLC37A4 gene leading to glucose metabolic disorder in the liver and kidneys, and as a result to severe organomegaly, hypoglycemia, and metabolic decompensation. Moreover, neutropenia and neutrophil dysfunction are noted in patients with GSD Ib. The use of granulocyte colony stimulating factor only increases the number of dysfunctional neutrophils without affecting their functional activity, what determines the inefficacy of such treatment. In recent years, the mechanism of neutropenia in GSD Ib has been clarified, so new therapeutic agents for its relief have been created. This article presents the overview of data on the successful results of renal sodium-glucose cotransporter type 2 inhibitors (gliflozins) usage in patients with GSD Ib.
{"title":"Sodium-Dependent Glucose Transporter Type 2 Inhibitors as a Breakthrough in Neutropenia and Neutrophil Dysfunction Management in Patients with Glycogen Storage Disease Type Ib","authors":"Andrej N. Surkov, L. S. Namazova-Baranova, Anna L. Arakelyan, E. E. Bessonov, N. V. Zhurkova","doi":"10.15690/vsp.v23i3.2761","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2761","url":null,"abstract":"Glycogen storage disease type Ib (GSD Ib) is a rare and extremely severe disease included in the group of hereditary carbohydrate metabolism disorders. The condition is caused by pathogenic variants in the SLC37A4 gene leading to glucose metabolic disorder in the liver and kidneys, and as a result to severe organomegaly, hypoglycemia, and metabolic decompensation. Moreover, neutropenia and neutrophil dysfunction are noted in patients with GSD Ib. The use of granulocyte colony stimulating factor only increases the number of dysfunctional neutrophils without affecting their functional activity, what determines the inefficacy of such treatment. In recent years, the mechanism of neutropenia in GSD Ib has been clarified, so new therapeutic agents for its relief have been created. This article presents the overview of data on the successful results of renal sodium-glucose cotransporter type 2 inhibitors (gliflozins) usage in patients with GSD Ib.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141653661","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}
Anna V. Makarova, Mudhar A.А. Alshaowa, Оlga S. Maslak, А. Y. Mushkin
Background. The effect of spinal deformity surgical correction in children with severe neuromuscular scoliosis (NMS) on lung function remains unexplored.Objective. The aim of the study is to — to survey the dynamics of volume and structure of lungs pneumatization in children after surgical correction of severe neuromuscular deformities of the spine complicated by respiratory disorders.Methods. CT scans of lungs from 5 children with right-sided NMS, grade IV (Cobb angle < 50°) and functional respiratory disorders (lung capacity < 30% of normal value according to spirometry data and/or clinical signs of respiratory failure) were retrospectively studied. Right and left lungs volumes, their ratio (asymmetry index), indicators of distribution of tissue density of each lung (as a percentage of total volume) before (not earlier than 2 months) and after (not later than 3 months) surgical correction of scoliosis were determined via the data processing from CT scans of the thoracic spine.Results. All children had both lung volumes below reference values (healthy peers) before surgery. The right lung volume increased by 11% (6.4–40.6%), the left lung — by 41% (22.5–90%) with the asymmetry index approaching the reference values for the corresponding age after correction of spinal deformity (the value of scoliotic deformity decreased (median) from 94 to 68°). The volume of normal ventilation zones increased from 30 to 50% on the right side, and from 41 to 55% on the left side, primarily due to decrease in the volume of hypoventilation zones, but not atelectasis and emphysema.Conclusion. Surgical correction of spinal deformity in children with NMS, grade IV, complicated with respiratory failure led to normalization of lungs volume and tissue density characteristics already in the early postoperative period.
{"title":"Lung Volume and Pneumatization Changes in Children in Early Post-Surgical Period After Correction of Severe Neuromuscular Scoliosis Complicated with Respiratory Failure: Cohort Study","authors":"Anna V. Makarova, Mudhar A.А. Alshaowa, Оlga S. Maslak, А. Y. Mushkin","doi":"10.15690/vsp.v23i3.2766","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2766","url":null,"abstract":"Background. The effect of spinal deformity surgical correction in children with severe neuromuscular scoliosis (NMS) on lung function remains unexplored.Objective. The aim of the study is to — to survey the dynamics of volume and structure of lungs pneumatization in children after surgical correction of severe neuromuscular deformities of the spine complicated by respiratory disorders.Methods. CT scans of lungs from 5 children with right-sided NMS, grade IV (Cobb angle < 50°) and functional respiratory disorders (lung capacity < 30% of normal value according to spirometry data and/or clinical signs of respiratory failure) were retrospectively studied. Right and left lungs volumes, their ratio (asymmetry index), indicators of distribution of tissue density of each lung (as a percentage of total volume) before (not earlier than 2 months) and after (not later than 3 months) surgical correction of scoliosis were determined via the data processing from CT scans of the thoracic spine.Results. All children had both lung volumes below reference values (healthy peers) before surgery. The right lung volume increased by 11% (6.4–40.6%), the left lung — by 41% (22.5–90%) with the asymmetry index approaching the reference values for the corresponding age after correction of spinal deformity (the value of scoliotic deformity decreased (median) from 94 to 68°). The volume of normal ventilation zones increased from 30 to 50% on the right side, and from 41 to 55% on the left side, primarily due to decrease in the volume of hypoventilation zones, but not atelectasis and emphysema.Conclusion. Surgical correction of spinal deformity in children with NMS, grade IV, complicated with respiratory failure led to normalization of lungs volume and tissue density characteristics already in the early postoperative period.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"2 25","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141652163","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}
Valeriya P. Lelik, Maria D. Dyachkova, S. Dorofeeva
The wide range of methods has been suggested for assessing the speech and language development in children. Therefore, the choice of suitable assessment tool is not always trivial. This article provides the overview of the methods used to examine Russian-speaking children, emphasises the parameters crucial for their comparison and, finally, choice itself. This review can be useful for researchers in the field of children’s speech and language development, specialists using various tools for assessing children’s speech in practice (pediatricians, speech pathologists, defectologists), as well as teachers and parents.
{"title":"Speech and Language Assessment Tools for Preschool and Primary School Children: Literature Review","authors":"Valeriya P. Lelik, Maria D. Dyachkova, S. Dorofeeva","doi":"10.15690/vsp.v23i3.2752","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2752","url":null,"abstract":"The wide range of methods has been suggested for assessing the speech and language development in children. Therefore, the choice of suitable assessment tool is not always trivial. This article provides the overview of the methods used to examine Russian-speaking children, emphasises the parameters crucial for their comparison and, finally, choice itself. This review can be useful for researchers in the field of children’s speech and language development, specialists using various tools for assessing children’s speech in practice (pediatricians, speech pathologists, defectologists), as well as teachers and parents.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"66 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141658100","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}
Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.
{"title":"Progeroid Cockayne Syndrome","authors":"Anastasiya L. Kungurtseva, A. Vitebskaya","doi":"10.15690/vsp.v23i3.2767","DOIUrl":"https://doi.org/10.15690/vsp.v23i3.2767","url":null,"abstract":"Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"114 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141835483","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. Chernevskiy, A. E. Lavrova, E. Konovalova, Elena Yu. Borisova, N. A. Doroshchuk, O. Groznova
Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value of the ATP7B gene, c.2111C>T (p.T704I, chr13:52534294G>A (HG19)), was described in the family where parents are cousins. The eldest daughter out of four children died at the age of 11 due to liver cirrhosis. Wilson’s disease was genetically confirmed in two children (clinically — abdominal form). The younger son was diagnosed heterozygous state of the disease (without any clinical manifestations). The revealed variant of the ATP7B gene was previously identified in 3 more patients with Wilson’s disease, however, in a compound heterozygous state with known pathogenic genetic variant. Conclusion. c.2111C>T (p.T704I) variant of the ATP7B gene can be considered as probably pathogenic. Further research is required to evaluate its functional significance in Wilson’s disease pathogenesis.
{"title":"Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the ATP7B Gene: Clinical Cases","authors":"D. Chernevskiy, A. E. Lavrova, E. Konovalova, Elena Yu. Borisova, N. A. Doroshchuk, O. Groznova","doi":"10.15690/vsp.v23i2.2725","DOIUrl":"https://doi.org/10.15690/vsp.v23i2.2725","url":null,"abstract":"Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value of the ATP7B gene, c.2111C>T (p.T704I, chr13:52534294G>A (HG19)), was described in the family where parents are cousins. The eldest daughter out of four children died at the age of 11 due to liver cirrhosis. Wilson’s disease was genetically confirmed in two children (clinically — abdominal form). The younger son was diagnosed heterozygous state of the disease (without any clinical manifestations). The revealed variant of the ATP7B gene was previously identified in 3 more patients with Wilson’s disease, however, in a compound heterozygous state with known pathogenic genetic variant. Conclusion. c.2111C>T (p.T704I) variant of the ATP7B gene can be considered as probably pathogenic. Further research is required to evaluate its functional significance in Wilson’s disease pathogenesis.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"336 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141011991","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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