D.R. Kuznetsova, Diana A. Gabdullina, Alina F. Makhmudova, Elena V. Bochkina, Elizaveta O. Platonova, Bogdan O. Zhirnov, Elnara E. Akhmetgareeva, Liliya S. Atangulova, Ruslan S. Shein, Kristina I. Rakhimova, Vlastilin V. Pakalnis, Elza R. Ganieva
Computed tomography (CT) of the brain has changed diagnostic neuroradiology significantly over the past 50 years since it was firstly used back in 1971 to visualize suspected frontal lobe tumour. The safety of head CT is determined by the small amount of radiation and the low sensibility of brain tissue to cytotoxic damage due to ionizing radiation compared to other organs. However, some population groups may be at increased risk. Thus, children are more susceptible to radiation cancer than adults and lifelong attributive risk (LAR) can be more than 10 times higher for an infant than for a middle-aged adult. The authors have reviewed published studies that examined the prevalence and mortality of intracranial tumors in children undergoing head CT in comparison to unaffected individuals. Electronic search of publications in the PubMed database from 1966 to date was carried out. We have carried out intersectoral search for documents containing keywords or medical subject headings (MeSH) related to three wide categories: 1) computed tomography, 2) radiation-induced tumors, 3) risk, morbidity or epidemiology. Further search was performed in manual mode. Available epidemiological data generally confirmed correlation between head CT and tumor growth induction. Thus, current epidemiological data accept the opinion that the risk of tumor induction associated with head CT in children is very small (one tumor per 3,000–10,000 studies). The minimal estimated risk of tumor induction due to head CT in children is mostly offset by its diagnostic imaging benefits considering the clinical indications to minimize radiation dose. Understanding and quantitative risk assessment of carcinogenesis associated with CT imaging led to dose reduction in pediatric CT protocols. This trend should continue and should be implemented in all age groups. Although the decision to perform head CT is often undeniable (injury or hemorrhage), careful assessment of studies frequency is required, especially in patients who need disease monitoring. Cumulative effect in such cases may increase the minimal risk of carcinogenesis. Larger and advanced epidemiological studies are required to better understand these risks.
{"title":"Pediatric Brain Tumor Risk Associated with Head Computed Tomography: Systematic Literature Review","authors":"D.R. Kuznetsova, Diana A. Gabdullina, Alina F. Makhmudova, Elena V. Bochkina, Elizaveta O. Platonova, Bogdan O. Zhirnov, Elnara E. Akhmetgareeva, Liliya S. Atangulova, Ruslan S. Shein, Kristina I. Rakhimova, Vlastilin V. Pakalnis, Elza R. Ganieva","doi":"10.15690/vsp.v22i1.2506","DOIUrl":"https://doi.org/10.15690/vsp.v22i1.2506","url":null,"abstract":"Computed tomography (CT) of the brain has changed diagnostic neuroradiology significantly over the past 50 years since it was firstly used back in 1971 to visualize suspected frontal lobe tumour. The safety of head CT is determined by the small amount of radiation and the low sensibility of brain tissue to cytotoxic damage due to ionizing radiation compared to other organs. However, some population groups may be at increased risk. Thus, children are more susceptible to radiation cancer than adults and lifelong attributive risk (LAR) can be more than 10 times higher for an infant than for a middle-aged adult. The authors have reviewed published studies that examined the prevalence and mortality of intracranial tumors in children undergoing head CT in comparison to unaffected individuals. Electronic search of publications in the PubMed database from 1966 to date was carried out. We have carried out intersectoral search for documents containing keywords or medical subject headings (MeSH) related to three wide categories: 1) computed tomography, 2) radiation-induced tumors, 3) risk, morbidity or epidemiology. Further search was performed in manual mode. Available epidemiological data generally confirmed correlation between head CT and tumor growth induction. Thus, current epidemiological data accept the opinion that the risk of tumor induction associated with head CT in children is very small (one tumor per 3,000–10,000 studies). The minimal estimated risk of tumor induction due to head CT in children is mostly offset by its diagnostic imaging benefits considering the clinical indications to minimize radiation dose. Understanding and quantitative risk assessment of carcinogenesis associated with CT imaging led to dose reduction in pediatric CT protocols. This trend should continue and should be implemented in all age groups. Although the decision to perform head CT is often undeniable (injury or hemorrhage), careful assessment of studies frequency is required, especially in patients who need disease monitoring. Cumulative effect in such cases may increase the minimal risk of carcinogenesis. Larger and advanced epidemiological studies are required to better understand these risks.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"138 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75847217","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. V. Safina, Inga A. Plotnikova, V. L. Zelentsova, Olga I. Myshinskaya
Background. The early onset of nephropathies creates certain risk of early chronic kidney disease development with loss of function (especially in children with unfavorable intrauterine period), renal tissue dysplasia, congenital malformations and/or urodynamic disorders.Objective. The aim of the study is to evaluate the role of ontogenesis factors in nephropathies development in tender-age infants with specification of the course features and kidneys morphometric parameters.Methods. Cohort study was conducted. The study group included 69 children aged from 0 to 36 months with changes in the kidneys (compared to age-specific ones) according to ultrasound and/or urinary syndrome (leukocyturia, bacteriuria, proteinuria, etc.). The control group included 35 relatively healthy children of the same age. Comparative analysis of antenatal and postnatal medical history was carried out in both groups, as well as comparison of morphometric indicators of the urinary system organs at neonatal ultrasound screening. Pathological process onset was also considered in the group of children with nephropathies. The study was conducted during 2018–2021.Results. Possible predictors of pathology process in children with early onset of nephropathies are: 1) maternal diseases: urinary system disorders (OR = 4.99), blood pathology, mainly anemia of the 2nd–3rd grade (OR = 6.94), cardiovascular system diseases (OR = 10.26), inflammatory diseases of genital tract (OR = 10.61); 2) pregnancy failures: gestational diabetes mellitus (OR = 7.24), preeclampsia and eclampsia (OR = 4.40); placental pathology (OR = 17.0), and fetoplacental insufficiency (OR = 7.61); 3) feeding features: early conversion to breast-milk substitutes (OR = 2.81). 50.7% of children of this group has shown persistent urodynamic disorders already at first months of life according to ultrasound data, as well as signs of bloated kidneys. It was shown that the inflammatory process manifestation associated with aggravated perinatal history and congenital defects occurs significantly earlier — 2 months, and without any defects — 4 months (p = 0.004).Conclusion. Burdened antenatal and neonatal medical history has negative effect on the morphogenesis of the urinary system organs and creates conditions for early nephropathies development during the first months of life.
{"title":"Analysis of Renal Pathology Predictors in Tender-Age Infants: Cohort Study","authors":"E. V. Safina, Inga A. Plotnikova, V. L. Zelentsova, Olga I. Myshinskaya","doi":"10.15690/vsp.v22i1.2507","DOIUrl":"https://doi.org/10.15690/vsp.v22i1.2507","url":null,"abstract":"Background. The early onset of nephropathies creates certain risk of early chronic kidney disease development with loss of function (especially in children with unfavorable intrauterine period), renal tissue dysplasia, congenital malformations and/or urodynamic disorders.Objective. The aim of the study is to evaluate the role of ontogenesis factors in nephropathies development in tender-age infants with specification of the course features and kidneys morphometric parameters.Methods. Cohort study was conducted. The study group included 69 children aged from 0 to 36 months with changes in the kidneys (compared to age-specific ones) according to ultrasound and/or urinary syndrome (leukocyturia, bacteriuria, proteinuria, etc.). The control group included 35 relatively healthy children of the same age. Comparative analysis of antenatal and postnatal medical history was carried out in both groups, as well as comparison of morphometric indicators of the urinary system organs at neonatal ultrasound screening. Pathological process onset was also considered in the group of children with nephropathies. The study was conducted during 2018–2021.Results. Possible predictors of pathology process in children with early onset of nephropathies are: 1) maternal diseases: urinary system disorders (OR = 4.99), blood pathology, mainly anemia of the 2nd–3rd grade (OR = 6.94), cardiovascular system diseases (OR = 10.26), inflammatory diseases of genital tract (OR = 10.61); 2) pregnancy failures: gestational diabetes mellitus (OR = 7.24), preeclampsia and eclampsia (OR = 4.40); placental pathology (OR = 17.0), and fetoplacental insufficiency (OR = 7.61); 3) feeding features: early conversion to breast-milk substitutes (OR = 2.81). 50.7% of children of this group has shown persistent urodynamic disorders already at first months of life according to ultrasound data, as well as signs of bloated kidneys. It was shown that the inflammatory process manifestation associated with aggravated perinatal history and congenital defects occurs significantly earlier — 2 months, and without any defects — 4 months (p = 0.004).Conclusion. Burdened antenatal and neonatal medical history has negative effect on the morphogenesis of the urinary system organs and creates conditions for early nephropathies development during the first months of life.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"142 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88964942","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}
I. Krestyashin, A. Razumovsky, V. Krestyashin, A. M. Chmykhova, L. S. Zolotareva
Background. Patients with clubfoot can have pain and functional disorders that lead to disability. Familiarity of obstetrician-gynecologists, general practitioners, surgeons with its early diagnosis and timely management may prevent disablement.Objective. The aim of the study is to analyze the opinion from parents of children with clubfoot on medical care via Ponseti method in outpatient center of surgery, traumatology and orthopedics.Methods. Cross-sectional study in the form of sociological survey (questionnaire) was carried out in N.F. Filatov Children’s City Hospital from March to December 2021 among parents of children with the following diagnoses: congenital bilateral clubfoot, congenital right clubfoot, congenital left clubfoot.Results. Respondents rated the quality of provided medical care and its availability, the hospital stay conditions by 10.0 points on the scale from 0 to 10. Territorial accessibility of medical care was estimated by 9.0 (7.0; 10.0) points, 30 out of 99 respondents (30.3%) required improvement in territorial accessibility (7 points out of 10 and below). Only 36.4% (36 out of 99) of children were sent to N.F. Filatov Children’s City Hospital for treatment by doctor of out-patient clinic. Others learned about this variant from the Internet, from acquaintances, etc. 10 out of 15 (15.2%) children with disabilities included in the study had difficulties in learning socially necessary skills. None of 10 children who have been diagnosed antenatally had any difficulties in learning socially necessary skills or disabilities. Mean age of disability was 10.6 ± 7.3 months. Children with disease diagnosed since birth had difficulties in learning socially necessary skills in 7.1% (2 out of 28) cases, and in 13.3% (8 out of 60) cases if diagnosed after birth (p = 0.356). Disability did not affect conditions in which children received treatment (14.6% and 20.0% of children under outpatient and inpatient treatment, respectively, had disabilities; p = 0.646). 26.7% of children with disabilities and only 11.9% of children without disabilities received treatment in hospital before the treatment (p = 0.218). 5.9% of children treated on outpatient basis had difficulties with learning socially necessary skills. Children treated on inpatient basis had difficulties with learning socially necessary skills in 35.7% cases (p = 0.005). The choice of outpatient or inpatient treatment did not depend on the presence of spina bifida (p = 0.276), children age (2.1 (0.7; 3.6) months vs 3.65 (0.6; 4.975) months, respectively; p = 0.309).Conclusion. Treatment can be delayed statistically significantly in case of late diagnosis, which is associated with the observed low awareness of doctors (working by the district principle) about specialized medical care. Ratio of children with disabilities and difficulties in learning socially necessary skills or disabilities is lower among patients with antenatal diagnosis. However, further studies are required for e
{"title":"Results of Cross-Sectional Study of the Opinion from Parents of Children with Clubfoot on Medical Care via Ponseti Method in Outpatient Center of Surgery, Traumatology and Orthopedics","authors":"I. Krestyashin, A. Razumovsky, V. Krestyashin, A. M. Chmykhova, L. S. Zolotareva","doi":"10.15690/vsp.v22i1.2505","DOIUrl":"https://doi.org/10.15690/vsp.v22i1.2505","url":null,"abstract":"Background. Patients with clubfoot can have pain and functional disorders that lead to disability. Familiarity of obstetrician-gynecologists, general practitioners, surgeons with its early diagnosis and timely management may prevent disablement.Objective. The aim of the study is to analyze the opinion from parents of children with clubfoot on medical care via Ponseti method in outpatient center of surgery, traumatology and orthopedics.Methods. Cross-sectional study in the form of sociological survey (questionnaire) was carried out in N.F. Filatov Children’s City Hospital from March to December 2021 among parents of children with the following diagnoses: congenital bilateral clubfoot, congenital right clubfoot, congenital left clubfoot.Results. Respondents rated the quality of provided medical care and its availability, the hospital stay conditions by 10.0 points on the scale from 0 to 10. Territorial accessibility of medical care was estimated by 9.0 (7.0; 10.0) points, 30 out of 99 respondents (30.3%) required improvement in territorial accessibility (7 points out of 10 and below). Only 36.4% (36 out of 99) of children were sent to N.F. Filatov Children’s City Hospital for treatment by doctor of out-patient clinic. Others learned about this variant from the Internet, from acquaintances, etc. 10 out of 15 (15.2%) children with disabilities included in the study had difficulties in learning socially necessary skills. None of 10 children who have been diagnosed antenatally had any difficulties in learning socially necessary skills or disabilities. Mean age of disability was 10.6 ± 7.3 months. Children with disease diagnosed since birth had difficulties in learning socially necessary skills in 7.1% (2 out of 28) cases, and in 13.3% (8 out of 60) cases if diagnosed after birth (p = 0.356). Disability did not affect conditions in which children received treatment (14.6% and 20.0% of children under outpatient and inpatient treatment, respectively, had disabilities; p = 0.646). 26.7% of children with disabilities and only 11.9% of children without disabilities received treatment in hospital before the treatment (p = 0.218). 5.9% of children treated on outpatient basis had difficulties with learning socially necessary skills. Children treated on inpatient basis had difficulties with learning socially necessary skills in 35.7% cases (p = 0.005). The choice of outpatient or inpatient treatment did not depend on the presence of spina bifida (p = 0.276), children age (2.1 (0.7; 3.6) months vs 3.65 (0.6; 4.975) months, respectively; p = 0.309).Conclusion. Treatment can be delayed statistically significantly in case of late diagnosis, which is associated with the observed low awareness of doctors (working by the district principle) about specialized medical care. Ratio of children with disabilities and difficulties in learning socially necessary skills or disabilities is lower among patients with antenatal diagnosis. However, further studies are required for e","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"28 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73687286","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}
G. Karkashadze, Natalia Е. Sergeeva, L. Namazova-Baranova, E. Vishneva, E. Kaytukova, K. Efendieva, T. Gogberashvili, Dmitriy S. Kratko, Safarbegim Kh. Sadilloeva, Marina A. Kurakina, A. I. Rykunova, T. Konstantinidi, Nadezhda A. Ulkina, D. Bushueva, Inessa A. Povalyeva, L. Yatsyk, Tatiana A. Salimgareeva, Yuliya V. Nesterova, P. A. Prudnikov, N. S. Sergienko, M. Soloshenko, N. Shilko, Yuliya E. Kazantzeva
Background. The study of digital activity correlation with cognitive-emotional features, as well as with other parameters of adolescents’ life-activity in non-capital regions of Russian Federation remains relevant.Objective. The aim of the study is to analyze the digital activity structure in adolescents and its correlation with cognitive-emotional features, school performance and social and age factors.Methods. Participants are secondary school students of the 8th–11th grades. Digital activity was examined via online survey among adolescents. We took into account the use of social media, information search, watching videos on the Internet, using of messengers, playing games with electronic devices. Cognitive features (memory, thinking, executive functions, sensory information procession, reading and speech, understanding of emotions, decision-making) and emotional state of adolescents (anxiety) were evaluated by clinical psychologists via various tests. School performance was determined by the recent results of the school quarters/semester finished by the time of the survey. Social and age factors included regular out-of-school physical activity and family structure (complete/ incomplete).Results. We have examined 438 teenagers. 53 (12%) respondents spend more than 5 hours a day with digital devices on weekdays, 133 (30%) — on weekends, 147 (34%) — during the holidays. Structure of digital activity during weekdays (≥ 1 hour) among adolescents was the following: activity in social media prevailed (63.5% of respondents), fewer teenagers searched for information or watched videos on the Internet (47.3 and 42.9%, respectively), about a third (34.9%) played via electronic devices. Structure of digital activity changed over the weekend and during the holidays. We have revealed differences between the information search activity and the volume of short-time memory, understanding the verbal messages, and verbal-logical operations level. Adolescents with different levels of computer gaming activity have shown diversity in sensomotor reaction speed, visuospatial memorization accuracy, number of errors in high-speed reading, reading pace, and understanding text basic meaning.Conclusion. The greater time of digital activity among 8th–11th grades students is associated with negative results of cognitive activity and school performance.
{"title":"Adolescents’ Digital activity and its Correlation with Cognitive-Emotional Features, School Performance, and Social and Age Factors: Cross-Sectional Study","authors":"G. Karkashadze, Natalia Е. Sergeeva, L. Namazova-Baranova, E. Vishneva, E. Kaytukova, K. Efendieva, T. Gogberashvili, Dmitriy S. Kratko, Safarbegim Kh. Sadilloeva, Marina A. Kurakina, A. I. Rykunova, T. Konstantinidi, Nadezhda A. Ulkina, D. Bushueva, Inessa A. Povalyeva, L. Yatsyk, Tatiana A. Salimgareeva, Yuliya V. Nesterova, P. A. Prudnikov, N. S. Sergienko, M. Soloshenko, N. Shilko, Yuliya E. Kazantzeva","doi":"10.15690/vsp.v21i6.2504","DOIUrl":"https://doi.org/10.15690/vsp.v21i6.2504","url":null,"abstract":"Background. The study of digital activity correlation with cognitive-emotional features, as well as with other parameters of adolescents’ life-activity in non-capital regions of Russian Federation remains relevant.Objective. The aim of the study is to analyze the digital activity structure in adolescents and its correlation with cognitive-emotional features, school performance and social and age factors.Methods. Participants are secondary school students of the 8th–11th grades. Digital activity was examined via online survey among adolescents. We took into account the use of social media, information search, watching videos on the Internet, using of messengers, playing games with electronic devices. Cognitive features (memory, thinking, executive functions, sensory information procession, reading and speech, understanding of emotions, decision-making) and emotional state of adolescents (anxiety) were evaluated by clinical psychologists via various tests. School performance was determined by the recent results of the school quarters/semester finished by the time of the survey. Social and age factors included regular out-of-school physical activity and family structure (complete/ incomplete).Results. We have examined 438 teenagers. 53 (12%) respondents spend more than 5 hours a day with digital devices on weekdays, 133 (30%) — on weekends, 147 (34%) — during the holidays. Structure of digital activity during weekdays (≥ 1 hour) among adolescents was the following: activity in social media prevailed (63.5% of respondents), fewer teenagers searched for information or watched videos on the Internet (47.3 and 42.9%, respectively), about a third (34.9%) played via electronic devices. Structure of digital activity changed over the weekend and during the holidays. We have revealed differences between the information search activity and the volume of short-time memory, understanding the verbal messages, and verbal-logical operations level. Adolescents with different levels of computer gaming activity have shown diversity in sensomotor reaction speed, visuospatial memorization accuracy, number of errors in high-speed reading, reading pace, and understanding text basic meaning.Conclusion. The greater time of digital activity among 8th–11th grades students is associated with negative results of cognitive activity and school performance.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"168 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76845974","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}
Pub Date : 2023-01-21DOI: 10.15690/vsp.v21i6s.2498
N. Vashakmadze, N. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, M. S. Karaseva, Kristina V. Pashkova, E. Zakharova, L. Namazova-Baranova
Background. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation. This disease is characterized by multisystem involvement and chronic progressive course.Clinical case description. The clinical case attracted our attention due to the late disease diagnosis in a boy living in a metropolis. The child has classic clinical manifestations of the disease: typical phenotype, spinal deformity, developmental speech and motor delays, hearing loss, hepatomegaly, splenomegaly, umbilical and inguinal hernias. Despite developmental speech delay and frequent recurrent otitis, the patient has not been referred to surdologist examination until the age of 4.5 years. Intriguing fact is the presence of congenital cataract that was the reason for surgery twice.Conclusion. Congenital cataract is one of the early manifestation of this disease. 3 out of 8 patients with alfa-mannosidosis observed in our centre had congenital cataract. We assume that such patients should be referred to genetics for the early exclusion of alpha-mannosidosis. Late diagnosis and progressive course of the disease led to early disability of the patient. Nowadays, as enzyme replacement therapy is available, it is crucial to identify these patients timely in order to improve their quality of life and increase survivability.
{"title":"Alfa-mannosidosis: Frequent Symptoms in Rare Patient","authors":"N. Vashakmadze, N. Zhurkova, Ludmila K. Mikhaylova, Marina A. Babaykina, M. S. Karaseva, Kristina V. Pashkova, E. Zakharova, L. Namazova-Baranova","doi":"10.15690/vsp.v21i6s.2498","DOIUrl":"https://doi.org/10.15690/vsp.v21i6s.2498","url":null,"abstract":"Background. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation. This disease is characterized by multisystem involvement and chronic progressive course.Clinical case description. The clinical case attracted our attention due to the late disease diagnosis in a boy living in a metropolis. The child has classic clinical manifestations of the disease: typical phenotype, spinal deformity, developmental speech and motor delays, hearing loss, hepatomegaly, splenomegaly, umbilical and inguinal hernias. Despite developmental speech delay and frequent recurrent otitis, the patient has not been referred to surdologist examination until the age of 4.5 years. Intriguing fact is the presence of congenital cataract that was the reason for surgery twice.Conclusion. Congenital cataract is one of the early manifestation of this disease. 3 out of 8 patients with alfa-mannosidosis observed in our centre had congenital cataract. We assume that such patients should be referred to genetics for the early exclusion of alpha-mannosidosis. Late diagnosis and progressive course of the disease led to early disability of the patient. Nowadays, as enzyme replacement therapy is available, it is crucial to identify these patients timely in order to improve their quality of life and increase survivability.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"29 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84489259","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}
Pub Date : 2023-01-20DOI: 10.15690/vsp.v21i6s.2497
Anna A. Kokorina, S. Nikitin
Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective SMN1 gene with its functional copy. It leads to normalization of survival motor neuron protein (SMN) production.Objective. The aim of the study is to evaluate efficacy, safety, and causes of different responses to therapy after single administration of onasemnogene abeparvovec in 5 patients with 5q SMA (types I and II) comparing the baseline status with the results of continued monitoring in real clinical practice in Russian Federation.Methods. Interim results of continued follow-up of children with 5q SMA with 2–3 copies of the SMN2 gene are presented: 2 boys and 1 girl with type I who received single dose of onasemnogene abeparvovec at 4 and 7 months of age; and 2 girls with type II who received therapy at 11 and 16 months of age.Results. Short-term controlled fever was observed in 4 out of 5 patients during first 2 weeks after viral vector therapy administration (max in patient 5 — up to 38.5 ° C). All 5 children had transaminases increase, 1 patient — significant transaminases increase during the sensitisation period (> 10 from upper normal level (UNL)), 1 patient — delayed significant transaminases increase (> 20 UNL), 1 patient — transaminases increase (> 3 UNL) after discontinuation of longterm therapy with glucocorticosteroids (according to prescribing information). All patients had shown positive and sustained response to therapy over time at motor status assessment via CHOP INTEND / HFMSE scales. The more significant response was observed in patients with less aggressive baseline 5q SMA type II with 3 copies of the SMN2 gene.Conclusion. Onasemnogene abeparvovec is relatively safe medication for management of children with 5q SMA. Thus, the development of adverse events and their mechanisms should be further studied, as well as long-term follow-up of recipients is required to gather knowledge on this medication effects on human body.
背景。Onasemnogene abeparvovec是第一个基于腺相关病毒载体(AAV9)的基因替代治疗药物。向5q脊髓性肌萎缩症(SMA)患者注射一针，就会导致缺失或有缺陷的SMN1基因被其功能拷贝所取代。它导致存活运动神经元蛋白(SMN)的生成正常化。该研究的目的是评估5例5q SMA (I型和II型)患者单次给予onasemnogene abparvovec治疗后不同反应的疗效、安全性和原因，并将基线状态与俄罗斯联邦实际临床持续监测的结果进行比较。对携带2 - 3份SMN2基因的5q型SMA患儿进行持续随访的中期结果显示:在4个月和7个月大时接受单剂量阿伯帕韦治疗的2名男孩和1名女孩为I型SMA患儿;2名II型女孩分别在11个月和16个月大时接受治疗。5例患者中有4例在给予病毒载体治疗后的前2周内出现短期发热(患者5最高可达38.5°C)。5例患儿均出现转氨酶升高，1例患者在致敏期转氨酶显著升高(>0高于正常水平(UNL))， 1例患者延迟转氨酶显著升高(>0高于正常水平(UNL))， 1例患者延迟转氨酶显著升高(bbb20 UNL)停用糖皮质激素长期治疗后转氨酶升高(bbb30 UNL)(根据处方信息)。在通过CHOP intention / HFMSE量表进行的运动状态评估中，所有患者都对治疗表现出积极和持续的反应。在具有3个SMN2基因拷贝的低侵袭性基线5q SMA II型患者中观察到更显著的应答。Onasemnogene abparvovec是治疗5q SMA儿童的相对安全的药物。因此，需要进一步研究不良事件的发展及其机制，并需要对接受者进行长期随访，以了解该药物对人体的影响。
{"title":"Interim Analysis of Treatment Outcomes of Young Children with 5q Spinal Muscular Atrophy on Gene Replacement Therapy with Onasemnogene Abeparvovec. Clinical Observations","authors":"Anna A. Kokorina, S. Nikitin","doi":"10.15690/vsp.v21i6s.2497","DOIUrl":"https://doi.org/10.15690/vsp.v21i6s.2497","url":null,"abstract":"Background. Onasemnogene abeparvovec is the first gene replacement therapy medication based on the adeno-associated viral vector (AAV9). One injection to a patient with 5q spinal muscular atrophy (SMA) leads to replacement of the missing or defective SMN1 gene with its functional copy. It leads to normalization of survival motor neuron protein (SMN) production.Objective. The aim of the study is to evaluate efficacy, safety, and causes of different responses to therapy after single administration of onasemnogene abeparvovec in 5 patients with 5q SMA (types I and II) comparing the baseline status with the results of continued monitoring in real clinical practice in Russian Federation.Methods. Interim results of continued follow-up of children with 5q SMA with 2–3 copies of the SMN2 gene are presented: 2 boys and 1 girl with type I who received single dose of onasemnogene abeparvovec at 4 and 7 months of age; and 2 girls with type II who received therapy at 11 and 16 months of age.Results. Short-term controlled fever was observed in 4 out of 5 patients during first 2 weeks after viral vector therapy administration (max in patient 5 — up to 38.5 ° C). All 5 children had transaminases increase, 1 patient — significant transaminases increase during the sensitisation period (> 10 from upper normal level (UNL)), 1 patient — delayed significant transaminases increase (> 20 UNL), 1 patient — transaminases increase (> 3 UNL) after discontinuation of longterm therapy with glucocorticosteroids (according to prescribing information). All patients had shown positive and sustained response to therapy over time at motor status assessment via CHOP INTEND / HFMSE scales. The more significant response was observed in patients with less aggressive baseline 5q SMA type II with 3 copies of the SMN2 gene.Conclusion. Onasemnogene abeparvovec is relatively safe medication for management of children with 5q SMA. Thus, the development of adverse events and their mechanisms should be further studied, as well as long-term follow-up of recipients is required to gather knowledge on this medication effects on human body.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"2018 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91326585","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}
Pub Date : 2023-01-20DOI: 10.15690/vsp.v21i6s.2503
N. Zhurkova, Nato V. Vashakmadze, A. Surkov, Olga Ya. Smirnova, N. S. Sergienko, Natallia G. Ovsyanik, L. Selimzyanova
Congenital mitochondrial fatty acid beta-oxidation disorders are a heterogeneous group of metabolic disorders characterized by impaired fatty acid metabolism in mitochondria. It results in central nervous system, skeletal muscle, cardiovascular system, and liver damage, as well as the development of nonketotic hypoglycemia. The age of disease manifestation and its severity range from severe (neonatal) to milder myopathic (adult) forms. The extension of the mass screening program in Russian Federation allows to detect these diseases during the first weeks of life. The availability of effective therapy for mitochondrial fatty acid beta-oxidation disorders, especially during early diagnosis, enables timely stabilization of the patient's condition and prevention of severe complications. Awareness of pediatricians, neonatologists, neurologists, and cardiologists about such diseases is the urgent task of modern pediatrics.
{"title":"Mitochondrial Fatty Acid Beta-Oxidation Disorders in Children: Literature Review","authors":"N. Zhurkova, Nato V. Vashakmadze, A. Surkov, Olga Ya. Smirnova, N. S. Sergienko, Natallia G. Ovsyanik, L. Selimzyanova","doi":"10.15690/vsp.v21i6s.2503","DOIUrl":"https://doi.org/10.15690/vsp.v21i6s.2503","url":null,"abstract":"Congenital mitochondrial fatty acid beta-oxidation disorders are a heterogeneous group of metabolic disorders characterized by impaired fatty acid metabolism in mitochondria. It results in central nervous system, skeletal muscle, cardiovascular system, and liver damage, as well as the development of nonketotic hypoglycemia. The age of disease manifestation and its severity range from severe (neonatal) to milder myopathic (adult) forms. The extension of the mass screening program in Russian Federation allows to detect these diseases during the first weeks of life. The availability of effective therapy for mitochondrial fatty acid beta-oxidation disorders, especially during early diagnosis, enables timely stabilization of the patient's condition and prevention of severe complications. Awareness of pediatricians, neonatologists, neurologists, and cardiologists about such diseases is the urgent task of modern pediatrics.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85314394","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}
Pub Date : 2023-01-20DOI: 10.15690/vsp.v21i6s.2488
N. Buchinskaya, N. Vashakmadze, N. Zhurkova, L. Sorokina, Liudmila К. Mikhaylova, L. Namazova-Baranova, E. Zakharova, V. Larionova, M. Kostik
Background. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities.Objective. The aim of the study is to create simple diagnostic criteria (DScore) that would allow to differentiate MPS from JIA for earlier MPS diagnosis.Methods. The retrospective multicenter study included analysis of clinical (joint, heart, eye involvement, hearing loss, hernias, psychomotor delay, noisy breathing, posture disorders, macrocephaly, hepatomegaly, splenomegaly, and growth delay) and laboratory data (ESR, CRP, hemoglobin, WBC, and platelets) from MPS patients (n = 41) and from rheumatoid factor-negative polyarticular category of JIA patients (n = 255). These variables allowed to differentiate both conditions and were used to create DScore.Results. Patients with MPS had younger onset age, male predominance, height and weight delay, lower inflammation markers (WBC, platelets, and ESR), and usually involved joints, especially cervical spine, upper limbs joints, hip, and small foot joints. The prevalence of eye involvement was similar for both diseases, however, the type of involvement was different. JIA patients had uveitis and its’ complications and MPS patients — corneal opacity and cataract. No differences in CRP levels were revealed in most cases. The major diagnostic criterion of MPS was the presence of more than one extra-articular manifestation associated with polyarticular involvement. DScore has included 5 following criteria: ESR ≤ 11 mm/h (38 points), height ≤ -2.0 SD (20 points), onset age of articular manifestations ≤ 1.1 year (24 points), male gender (15 points), and symmetrical limitation of movements in elbow joints (29 points). The sum > 38 points allowed us to differentiate MPS and JIA with sensitivity of 92.7% and specificity of 91.0%.Conclusion. This DScore can be used for differential diagnosis of mild MPS and JIA alongside with routine diagnostic procedures. DScore allows us to identify a group of patients with joint involvement who require MPS exclusion.
{"title":"How to Distinguish Attenuated Forms of Mucopolysaccharidosis and Articular Forms of Juvenile Arthritis: Development of Diagnostic Algorithm Based on the Data from Multicenter Retrospective Study","authors":"N. Buchinskaya, N. Vashakmadze, N. Zhurkova, L. Sorokina, Liudmila К. Mikhaylova, L. Namazova-Baranova, E. Zakharova, V. Larionova, M. Kostik","doi":"10.15690/vsp.v21i6s.2488","DOIUrl":"https://doi.org/10.15690/vsp.v21i6s.2488","url":null,"abstract":"Background. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities.Objective. The aim of the study is to create simple diagnostic criteria (DScore) that would allow to differentiate MPS from JIA for earlier MPS diagnosis.Methods. The retrospective multicenter study included analysis of clinical (joint, heart, eye involvement, hearing loss, hernias, psychomotor delay, noisy breathing, posture disorders, macrocephaly, hepatomegaly, splenomegaly, and growth delay) and laboratory data (ESR, CRP, hemoglobin, WBC, and platelets) from MPS patients (n = 41) and from rheumatoid factor-negative polyarticular category of JIA patients (n = 255). These variables allowed to differentiate both conditions and were used to create DScore.Results. Patients with MPS had younger onset age, male predominance, height and weight delay, lower inflammation markers (WBC, platelets, and ESR), and usually involved joints, especially cervical spine, upper limbs joints, hip, and small foot joints. The prevalence of eye involvement was similar for both diseases, however, the type of involvement was different. JIA patients had uveitis and its’ complications and MPS patients — corneal opacity and cataract. No differences in CRP levels were revealed in most cases. The major diagnostic criterion of MPS was the presence of more than one extra-articular manifestation associated with polyarticular involvement. DScore has included 5 following criteria: ESR ≤ 11 mm/h (38 points), height ≤ -2.0 SD (20 points), onset age of articular manifestations ≤ 1.1 year (24 points), male gender (15 points), and symmetrical limitation of movements in elbow joints (29 points). The sum > 38 points allowed us to differentiate MPS and JIA with sensitivity of 92.7% and specificity of 91.0%.Conclusion. This DScore can be used for differential diagnosis of mild MPS and JIA alongside with routine diagnostic procedures. DScore allows us to identify a group of patients with joint involvement who require MPS exclusion.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82014911","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}
Irina A. Belyayeva, T. Turti, L. Namazova-Baranova, E. Bombardirova, E. Vishneva, E. Kaytukova, K. Efendieva, R. A. Shukenbaeva, Pavel E. Sadchikov
Background. For now, there is little data on sensitivity features to specific allergen antigens in infants with initial allergy manifestations.Objective. The aim of the study is to determine the features of the primary molecular sensitisation profile in infants with risk of atopic disease according to their postnatal age.Methods. Full-term infants with burdened familial allergic history and/or skin/gastrointestinal allergy symptoms were examined: Group 1 — 50 children, age — 2.0 [1.0–3.0] months; Group 2 — 35 children, age — 9.0 [8.0–11.0] months.Results. The hereditary atopy risk was observed in 74% of cases (37/50) in Group 1 and in 71% of cases (25/35) in Group 2. 38% of children (19/50) in Group 1 were breastfed, in Group 2 — 60% of children (21/35). Supplemental feeding was implemented in 5.5 [5.0–6.0] months. Sensitisation was reported in 10% and 37% of children. Children of Group 1 were sensitised to food allergen antigens: cow's milk/meat (Bos d 6, Bos d 8), egg-white (Gal d 1, Gal d 2, Gal d 3), soybeans (Gly m 6), shrimps (Pen m 4); airborne allergens: house dust mite (Blo t 5, Der h 10), Anisakidae (Ani s 3), cockroach (Bla g 7). Children of Group 2 were sensitised to food allergen antigens: cow's milk (Bos d 6), egg-white (Gal d 1, Gal d 2), soybeans (Gly m 6), peanut (Ara h 1, Ara h 2, Ara h 6), kiwi (Act d 1), corn (Tri a 19); airborne allergens: cat (Fel d 1, Fel d 4), birch pollen (Bet v 1). Polyvalent sensitisation was revealed in 4% and 6% of cases, respectively.Conclusion. Infants have much wider range of allergens to which they are sensitive than it is commonly believed. Beside obligate food allergens, sensitisation can be caused by airborne allergens: house dust mites, epidermal, birch pollen; crossreactive component — tropomyosin.
背景。目前，关于初始过敏表现的婴儿对特定过敏原抗原的敏感性特征的数据很少。该研究的目的是根据出生后年龄确定具有特应性疾病风险的婴儿的主要分子致敏特征。有沉重的家族过敏史和/或皮肤/胃肠道过敏症状的足月婴儿进行检查:1 - 50组儿童，年龄- 2.0[1.0-3.0]个月;组2 ~ 35例，年龄- 9.0[8.0 ~ 11.0]个月。第1组有74%(37/50)的病例存在遗传性特应性风险，第2组有71%(25/35)的病例存在遗传性特应性风险。第1组38%的儿童(19/50)母乳喂养，第2组60%的儿童(21/35)母乳喂养。在5.5[5.0-6.0]月龄时进行补充喂养。据报道，10%和37%的儿童过敏。1组患儿对食物过敏原抗原敏感:牛奶/肉类(bos6、bos8)、蛋白(gald1、gald2、gald3)、大豆(gly6)、虾(peng4);空气致敏原:屋尘螨(Blo t 5、Der h 10)、异螨科(Anisakidae)、蟑螂(Bla g 7)。2组儿童对食物致敏原抗原:牛奶(bod 6)、蛋白(gald 1、gald 2)、大豆(Gly m 6)、花生(Ara h 1、Ara h 2、Ara h 6)、猕猴桃(Act d 1)、玉米(Tri a 19);空气致敏原:猫(Fel d 1, Fel d 4)，桦树花粉(betv 1)。多价致敏分别为4%和6%。婴儿对过敏原的敏感范围比通常认为的要大得多。除了专性食物过敏原外，空气中的过敏原也可能引起致敏:室内尘螨、表皮、桦树花粉;交叉反应成分-原肌球蛋白。
{"title":"Sadchikov Pavel E. Features of Molecular Sensitisation Profile in Infants with Risk of Allergic Diseases","authors":"Irina A. Belyayeva, T. Turti, L. Namazova-Baranova, E. Bombardirova, E. Vishneva, E. Kaytukova, K. Efendieva, R. A. Shukenbaeva, Pavel E. Sadchikov","doi":"10.15690/vsp.v21i6.2496","DOIUrl":"https://doi.org/10.15690/vsp.v21i6.2496","url":null,"abstract":"Background. For now, there is little data on sensitivity features to specific allergen antigens in infants with initial allergy manifestations.Objective. The aim of the study is to determine the features of the primary molecular sensitisation profile in infants with risk of atopic disease according to their postnatal age.Methods. Full-term infants with burdened familial allergic history and/or skin/gastrointestinal allergy symptoms were examined: Group 1 — 50 children, age — 2.0 [1.0–3.0] months; Group 2 — 35 children, age — 9.0 [8.0–11.0] months.Results. The hereditary atopy risk was observed in 74% of cases (37/50) in Group 1 and in 71% of cases (25/35) in Group 2. 38% of children (19/50) in Group 1 were breastfed, in Group 2 — 60% of children (21/35). Supplemental feeding was implemented in 5.5 [5.0–6.0] months. Sensitisation was reported in 10% and 37% of children. Children of Group 1 were sensitised to food allergen antigens: cow's milk/meat (Bos d 6, Bos d 8), egg-white (Gal d 1, Gal d 2, Gal d 3), soybeans (Gly m 6), shrimps (Pen m 4); airborne allergens: house dust mite (Blo t 5, Der h 10), Anisakidae (Ani s 3), cockroach (Bla g 7). Children of Group 2 were sensitised to food allergen antigens: cow's milk (Bos d 6), egg-white (Gal d 1, Gal d 2), soybeans (Gly m 6), peanut (Ara h 1, Ara h 2, Ara h 6), kiwi (Act d 1), corn (Tri a 19); airborne allergens: cat (Fel d 1, Fel d 4), birch pollen (Bet v 1). Polyvalent sensitisation was revealed in 4% and 6% of cases, respectively.Conclusion. Infants have much wider range of allergens to which they are sensitive than it is commonly believed. Beside obligate food allergens, sensitisation can be caused by airborne allergens: house dust mites, epidermal, birch pollen; crossreactive component — tropomyosin.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90656209","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}
Pub Date : 2023-01-02DOI: 10.15690/vsp.v21i6s.2499
N. Vashakmadze, N. Zhurkova, L. K. Mikhaylova, V. Y. Smirnova, G. Revunenkov
Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase. This enzyme deficiency leads to specific glycosaminoglycans (keratan sulfate and chondroitin-6-sulfate) accumulation mainly in the bone and cartilage tissues, as well as in the cardiovascular, respiratory systems, and visual systems. Patients with MPS IVA look healthy at birth, however, they develop typical spine deformities (kyphoscoliosis), pectus carinatum, wrists hypermobility with decreased muscle strength and loss of fine motor skills, valgus deformation of lower limbs during the first years of life. Pathological changes in cardiovascular and respiratory systems, visual and acoustic analyzers can be revealed. Early diagnosis of the disease is crucial for timely initiation of enzyme replacement therapy. Thus, low incidence of the disease and its heterogeneous clinical picture complicates diagnosis. Consequently, patients with MAS IVA often become severely disabled as early as adolescence. Patients with severe form and without treatment die before the age of 30 due to complications of respiratory system diseases, valvular heart apparatus involvement, and cervical myelopathy.
{"title":"Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)","authors":"N. Vashakmadze, N. Zhurkova, L. K. Mikhaylova, V. Y. Smirnova, G. Revunenkov","doi":"10.15690/vsp.v21i6s.2499","DOIUrl":"https://doi.org/10.15690/vsp.v21i6s.2499","url":null,"abstract":"Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase. This enzyme deficiency leads to specific glycosaminoglycans (keratan sulfate and chondroitin-6-sulfate) accumulation mainly in the bone and cartilage tissues, as well as in the cardiovascular, respiratory systems, and visual systems. Patients with MPS IVA look healthy at birth, however, they develop typical spine deformities (kyphoscoliosis), pectus carinatum, wrists hypermobility with decreased muscle strength and loss of fine motor skills, valgus deformation of lower limbs during the first years of life. Pathological changes in cardiovascular and respiratory systems, visual and acoustic analyzers can be revealed. Early diagnosis of the disease is crucial for timely initiation of enzyme replacement therapy. Thus, low incidence of the disease and its heterogeneous clinical picture complicates diagnosis. Consequently, patients with MAS IVA often become severely disabled as early as adolescence. Patients with severe form and without treatment die before the age of 30 due to complications of respiratory system diseases, valvular heart apparatus involvement, and cervical myelopathy.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82879386","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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