Pub Date : 2023-01-01DOI: 10.20953/1727-5784-2023-3-12-16
S. Stolyarova, P. Okorokov, I. V. Zyabkin, E. V. Babaeva, E. P. Isaeva
Objective. To assess the intensity of basal metabolism in adolescent elite athletes. Patients and methods. This study included 154 adolescent athletes (42 boys, 112 girls) aged 13–18 years (mean age: 15.3 ± 2.5 years). Basal metabolic rate (BMR) was measured in all participants using respiratory indirect calorimetry and the Harris–Benedict equation. Study design: single-center, cross-sectional, randomized, uncontrolled. Results. An increase in BMR was revealed in 79 (51%) participants, normal BMR – in 50 (33%) participants, and a decrease in BMR – in 25 (16%) participants. Increased BMR was statistically significantly more common in boys compared to girls (83% and 39% respectively, p = 0,01), whereas decreased BMR was more characteristic of girls compared to boys (20% and 4%, respectively, p = 0.001). Conclusion. Most adolescent athletes show an increase in BMR, which reflects an adaptation of the organism to high physical exertion. A decrease in BMR may indicate the presence of relative energy deficiency in athletes. The Harris–Benedict equation significantly underestimates the value of BMR in adolescent athletes and is not an alternative to respiratory indirect calorimetry when individual assessment of energy expenditure is necessary as part of biomedical support. Key words: children, high-performance sport, basal metabolic rate, indirect calorimetry
{"title":"Assessment of basal metabolic rate in adolescent athletes","authors":"S. Stolyarova, P. Okorokov, I. V. Zyabkin, E. V. Babaeva, E. P. Isaeva","doi":"10.20953/1727-5784-2023-3-12-16","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-3-12-16","url":null,"abstract":"Objective. To assess the intensity of basal metabolism in adolescent elite athletes. Patients and methods. This study included 154 adolescent athletes (42 boys, 112 girls) aged 13–18 years (mean age: 15.3 ± 2.5 years). Basal metabolic rate (BMR) was measured in all participants using respiratory indirect calorimetry and the Harris–Benedict equation. Study design: single-center, cross-sectional, randomized, uncontrolled. Results. An increase in BMR was revealed in 79 (51%) participants, normal BMR – in 50 (33%) participants, and a decrease in BMR – in 25 (16%) participants. Increased BMR was statistically significantly more common in boys compared to girls (83% and 39% respectively, p = 0,01), whereas decreased BMR was more characteristic of girls compared to boys (20% and 4%, respectively, p = 0.001). Conclusion. Most adolescent athletes show an increase in BMR, which reflects an adaptation of the organism to high physical exertion. A decrease in BMR may indicate the presence of relative energy deficiency in athletes. The Harris–Benedict equation significantly underestimates the value of BMR in adolescent athletes and is not an alternative to respiratory indirect calorimetry when individual assessment of energy expenditure is necessary as part of biomedical support. Key words: children, high-performance sport, basal metabolic rate, indirect calorimetry","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718637","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-3-42-52
E. Loshkova, E. Kondratyeva, L. Klimov, N. S. Podchernyaeva, N. Ilyenkova, S. Chebysheva, E. Shitkovskaya, S. Dolbnya, V. A. Kuryaninova, E. Zhekayte, M. I. Tikhaya, Yuliia V. Kotova, Y. Melyanovskaya, M. I. Erokhina, A. Khavkin
Objective. To conduct an association search between genetic variants (c.1206T>C, c.152T>C, c.1174+283G>A) of the VDR gene and clinical manifestations of juvenile idiopathic arthritis (JIA), need for genetically engineered biological drugs (GEBDs) and vitamin D status in children. Patients and methods. This study included 150 children (mean age: 9.11 ± 2.21 years) with JIA and 333 healthy controls. The determination of serum calcidiol concentrations was performed in all patients. Polymorphic variants of the VDR gene (c.1206T>C, c.1175-9G>T, c.152T>C, c.1174+283G>A) were tested by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technique. Results. Carriers of the minor TT genotype of the genetic variant c.1206T>C(A>G) TaqI are 4 time more likely to develop systemic JIA, 5 time more likely to have high disease activity and uveitis, as well as 9.9 times more often require prescription of GEBDs. Carriers of the minor genotype TT of the genetic variant c.152T>C FokI are 7.7 times more likely to develop systemic JIA and 4.3 times – polyarticular JIA, 6.2 times more likely to have high disease activity and 5.6 times – uveitis, 8 times more often have a severe calcidiol deficiency and 4 times more often require prescription of GEBDs. Carrying the minor AA genotype of the BsmlI polymorphism (c.1174+283G>A) increases the risk of systemic-onset JIA by 17 times, high disease activity and uveitis – by 18 times, and need for GEBDs – by 15 times; carrying the AA and GA genotypes increases the risk of calcidiol deficiency by 5 times and severe calcidiol deficiency by 9 times. Conclusion. All studied genetic variants of the VDR gene verifiably affect the development of clinical manifestations, complications, calcidiol levels and response to therapy in JIA. Key words: VDR gene, juvenile idiopathic arthritis, children, vitamin D, autoimmune disease
{"title":"Association of the VDR gene with clinical manifestations, complications, and vitamin D status in children with juvenile idiopathic arthritis","authors":"E. Loshkova, E. Kondratyeva, L. Klimov, N. S. Podchernyaeva, N. Ilyenkova, S. Chebysheva, E. Shitkovskaya, S. Dolbnya, V. A. Kuryaninova, E. Zhekayte, M. I. Tikhaya, Yuliia V. Kotova, Y. Melyanovskaya, M. I. Erokhina, A. Khavkin","doi":"10.20953/1727-5784-2023-3-42-52","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-3-42-52","url":null,"abstract":"Objective. To conduct an association search between genetic variants (c.1206T>C, c.152T>C, c.1174+283G>A) of the VDR gene and clinical manifestations of juvenile idiopathic arthritis (JIA), need for genetically engineered biological drugs (GEBDs) and vitamin D status in children. Patients and methods. This study included 150 children (mean age: 9.11 ± 2.21 years) with JIA and 333 healthy controls. The determination of serum calcidiol concentrations was performed in all patients. Polymorphic variants of the VDR gene (c.1206T>C, c.1175-9G>T, c.152T>C, c.1174+283G>A) were tested by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) technique. Results. Carriers of the minor TT genotype of the genetic variant c.1206T>C(A>G) TaqI are 4 time more likely to develop systemic JIA, 5 time more likely to have high disease activity and uveitis, as well as 9.9 times more often require prescription of GEBDs. Carriers of the minor genotype TT of the genetic variant c.152T>C FokI are 7.7 times more likely to develop systemic JIA and 4.3 times – polyarticular JIA, 6.2 times more likely to have high disease activity and 5.6 times – uveitis, 8 times more often have a severe calcidiol deficiency and 4 times more often require prescription of GEBDs. Carrying the minor AA genotype of the BsmlI polymorphism (c.1174+283G>A) increases the risk of systemic-onset JIA by 17 times, high disease activity and uveitis – by 18 times, and need for GEBDs – by 15 times; carrying the AA and GA genotypes increases the risk of calcidiol deficiency by 5 times and severe calcidiol deficiency by 9 times. Conclusion. All studied genetic variants of the VDR gene verifiably affect the development of clinical manifestations, complications, calcidiol levels and response to therapy in JIA. Key words: VDR gene, juvenile idiopathic arthritis, children, vitamin D, autoimmune disease","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718292","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-3-72-81
M. G. Ipatova, V. V. Kholostova, S.M. Chekh, E. Sergeeva, P. Shumilov, A. Razumovskiy
Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings
{"title":"Clinical case of hereditary pancreatitis in four siblings due to mutations in the PRSS1 gene","authors":"M. G. Ipatova, V. V. Kholostova, S.M. Chekh, E. Sergeeva, P. Shumilov, A. Razumovskiy","doi":"10.20953/1727-5784-2023-3-72-81","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-3-72-81","url":null,"abstract":"Hereditary pancreatitis in children remains a challenging problem in clinical genetics, gastroenterology, and surgery. Genetic causes account for more than 50% of all cases of acute recurrent pancreatitis and 75% of chronic pancreatitis in children. The development of chronic pancreatitis is commonly caused by mutations in the CFTR, PRSS1, SPINK1, CTRC, and CPA1 genes. This article presents a clinical case of hereditary pancreatitis with an autosomal dominant inheritance in 4 siblings, in whom a pathogenic variant in the PRSS1 gene was detected during molecular genetic testing. Key words: hereditary pancreatitis, pathogenic variant, PRSS1 gene, children, siblings","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718895","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-2-5-12
O. Zonenko, P. Suter, P. Shumilov, S. Krasovsky
Objective. To identify the factors significantly affecting clinical outcomes in patients with cystic fibrosis who are observed at the Federal Clinical Center based on a multivariate analysis of the disease course. Patients and methods. A total of 657 medical records of patients with cystic fibrosis were examined. The survival rate was analyzed depending on the type of genetic mutation and sex of patients. The dynamic model for predicting 2-year survival outcomes based on 36 parameters from the National Registry was developed. Results. The multivariate Cox proportional hazard model applied to dynamic data by a landmarking method revealed a statistically significant association between mortality over a 2-year lifetime with the values of the following factors: FEV1 (relative risk (RR): 0.95; 95% confidence interval (CI): 0.94–0.97); cystic fibrosis-related diabetes (RR: 2.36; CI: 1.47–3.80); Burkholderia cepacia complex infection (RR: 3.22; CI: 2.12–4.91); need for oxygen therapy (RR: 1.9; CI: 1.15–3.12); previous pneumothorax (RR: 2.72; CI: 1.19-6.20); vitamin therapy (RR: 2.72; CI: 1.09–6.81); pancreatic enzyme intake (RR: 0.38; CI: 0.17–0.86). Conclusion. The awareness of prognostic survival factors will allow to optimize treatment and rehabilitation programs for patients with cystic fibrosis, which will lead to an increase in patients’ life expectancy. Key words: cystic fibrosis, children, survival rate
{"title":"Prognostic factors for outcomes in patients with cystic fibrosis who are observed at the Federal Clinical Center","authors":"O. Zonenko, P. Suter, P. Shumilov, S. Krasovsky","doi":"10.20953/1727-5784-2023-2-5-12","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-2-5-12","url":null,"abstract":"Objective. To identify the factors significantly affecting clinical outcomes in patients with cystic fibrosis who are observed at the Federal Clinical Center based on a multivariate analysis of the disease course. Patients and methods. A total of 657 medical records of patients with cystic fibrosis were examined. The survival rate was analyzed depending on the type of genetic mutation and sex of patients. The dynamic model for predicting 2-year survival outcomes based on 36 parameters from the National Registry was developed. Results. The multivariate Cox proportional hazard model applied to dynamic data by a landmarking method revealed a statistically significant association between mortality over a 2-year lifetime with the values of the following factors: FEV1 (relative risk (RR): 0.95; 95% confidence interval (CI): 0.94–0.97); cystic fibrosis-related diabetes (RR: 2.36; CI: 1.47–3.80); Burkholderia cepacia complex infection (RR: 3.22; CI: 2.12–4.91); need for oxygen therapy (RR: 1.9; CI: 1.15–3.12); previous pneumothorax (RR: 2.72; CI: 1.19-6.20); vitamin therapy (RR: 2.72; CI: 1.09–6.81); pancreatic enzyme intake (RR: 0.38; CI: 0.17–0.86). Conclusion. The awareness of prognostic survival factors will allow to optimize treatment and rehabilitation programs for patients with cystic fibrosis, which will lead to an increase in patients’ life expectancy. Key words: cystic fibrosis, children, survival rate","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718137","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-2-77-89
V. Antonyan, A. Shakirova, A.A. Vyalykh, P. Shumilov, H. Sarkisyan, I. Moreno, Yulia Petrova, A. Poghosyan
DiGeorge syndrome is characterized by conotruncal heart defects, an immunodeficiency state, and underdeveloped parathyroid glands. Contemporary medicine describes more than 180 clinical forms of this disease, which are usually classified under the heading “chromosome 22q11.2 deletion syndrome” (D 82.1). Along with the above abnormalities, there are other malformations and pathological conditions in 22q11.2DS that not only complicate diagnosis, neonatal nursing, and further management, but also lead to an increased frequency of surgical interventions. This article presents 8 clinical cases of 22q11.2DS with multiple congenital disorders. The children under observation had malformations of the central nervous, maxillofacial, genitourinary, musculoskeletal systems, anorectal region, as well as diaphragmatic and inguinal hernias. Key words: multiple congenital disorders, 22q11.2 deletion syndrome, DiGeorge syndrome, conotruncal congenital heart defects, cleft lip and palate, anorectal malformations, hypoparathyroidism, delayed speech and psychomotor development, primary immunodeficiency
{"title":"Clinical features of 22q11.2 deletion syndrome in early childhood","authors":"V. Antonyan, A. Shakirova, A.A. Vyalykh, P. Shumilov, H. Sarkisyan, I. Moreno, Yulia Petrova, A. Poghosyan","doi":"10.20953/1727-5784-2023-2-77-89","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-2-77-89","url":null,"abstract":"DiGeorge syndrome is characterized by conotruncal heart defects, an immunodeficiency state, and underdeveloped parathyroid glands. Contemporary medicine describes more than 180 clinical forms of this disease, which are usually classified under the heading “chromosome 22q11.2 deletion syndrome” (D 82.1). Along with the above abnormalities, there are other malformations and pathological conditions in 22q11.2DS that not only complicate diagnosis, neonatal nursing, and further management, but also lead to an increased frequency of surgical interventions. This article presents 8 clinical cases of 22q11.2DS with multiple congenital disorders. The children under observation had malformations of the central nervous, maxillofacial, genitourinary, musculoskeletal systems, anorectal region, as well as diaphragmatic and inguinal hernias. Key words: multiple congenital disorders, 22q11.2 deletion syndrome, DiGeorge syndrome, conotruncal congenital heart defects, cleft lip and palate, anorectal malformations, hypoparathyroidism, delayed speech and psychomotor development, primary immunodeficiency","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718587","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-2-95-96
V. Novikova, N. Shapovalova, A. Kamalova, I. Bavykina, A. A. Zvyagin, D. S. Fugol, I. E. Romanovskaya, A. Khavkin
{"title":"Knowledge and awareness of celiac disease among Russian healthcare professionals","authors":"V. Novikova, N. Shapovalova, A. Kamalova, I. Bavykina, A. A. Zvyagin, D. S. Fugol, I. E. Romanovskaya, A. Khavkin","doi":"10.20953/1727-5784-2023-2-95-96","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-2-95-96","url":null,"abstract":"","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718604","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-3-22-27
T. P. Zhukova, S. Ratnikova, N. A. Irinina, E.S. Zaytseva, N.B. Sedova
Objective. To evaluate the efficacy, safety, and tolerability of a specialized food product for dietary therapeutic nutrition “Bifinilan” in children over 7 years of age with phenylketonuria. Patients and methods. An open-label prospective study was conducted in outpatient clinical settings. It included 17 children with phenylketonuria aged between 8 and 15 years (12 girls and 5 boys), who received a specialized product “Bifinilan” for 30 ± 2 days. Clinical and anamnestic characteristics, blood phenylalanine levels determined by the fluorescent method were assessed at the beginning and at the end of the study. Results. During the study, blood phenylalanine levels decreased significantly and were within the reference range (median before the study was 9.11 mg/dL, at the end of the study – 6.17 mg/dL, p < 0.05). At the same time, in children with initially elevated phenylalanine level, it decreased to an acceptable range, and in children with a normal phenylalanine level, it remained within the same range. Patients, their parents, and physicians were completely satisfied with the use of the product, which was well tolerated and the transition to which was not followed by an adaptation period. Conclusion. The efficacy, safety, and good tolerability of a specialized food product for dietary therapeutic nutrition “Bifinilan” in children over 7 years of age with phenylketonuria was demonstrated. Key words: children, specialized food product for dietary therapeutic nutrition, phenylalanine, phenylketonuria
目标。评价一种专门用于膳食治疗营养的食品“比非尼兰”对7岁以上苯丙酮尿症儿童的疗效、安全性和耐受性。患者和方法。在门诊临床环境中进行了一项开放标签前瞻性研究。17例8 ~ 15岁的苯丙酮尿症患儿(女孩12例，男孩5例)，接受专用产品“比非尼兰”治疗30±2天。在研究开始和结束时评估临床和记忆特征、荧光法测定的血液苯丙氨酸水平。结果。在研究期间，血液中苯丙氨酸水平显著下降，并在参考范围内(研究前中位数为9.11 mg/dL，研究结束时中位数为6.17 mg/dL, p < 0.05)。同时，在苯丙氨酸水平最初升高的儿童中，苯丙氨酸水平下降到可接受的范围内，在苯丙氨酸水平正常的儿童中，苯丙氨酸水平保持在相同的范围内。患者、他们的父母和医生对该产品的使用完全满意，该产品耐受性良好，过渡到该产品后没有适应期。结论。一种专门用于膳食治疗营养的食品“比非尼兰”对7岁以上苯丙酮尿症儿童的有效性、安全性和良好的耐受性得到了证实。关键词:儿童，食疗营养专用食品，苯丙氨酸，苯丙酮尿症
{"title":"Results of a clinical study of a specialized food product for dietary therapeutic nutrition “Bifinilan” for children over seven years of age with phenylketonuria","authors":"T. P. Zhukova, S. Ratnikova, N. A. Irinina, E.S. Zaytseva, N.B. Sedova","doi":"10.20953/1727-5784-2023-3-22-27","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-3-22-27","url":null,"abstract":"Objective. To evaluate the efficacy, safety, and tolerability of a specialized food product for dietary therapeutic nutrition “Bifinilan” in children over 7 years of age with phenylketonuria. Patients and methods. An open-label prospective study was conducted in outpatient clinical settings. It included 17 children with phenylketonuria aged between 8 and 15 years (12 girls and 5 boys), who received a specialized product “Bifinilan” for 30 ± 2 days. Clinical and anamnestic characteristics, blood phenylalanine levels determined by the fluorescent method were assessed at the beginning and at the end of the study. Results. During the study, blood phenylalanine levels decreased significantly and were within the reference range (median before the study was 9.11 mg/dL, at the end of the study – 6.17 mg/dL, p < 0.05). At the same time, in children with initially elevated phenylalanine level, it decreased to an acceptable range, and in children with a normal phenylalanine level, it remained within the same range. Patients, their parents, and physicians were completely satisfied with the use of the product, which was well tolerated and the transition to which was not followed by an adaptation period. Conclusion. The efficacy, safety, and good tolerability of a specialized food product for dietary therapeutic nutrition “Bifinilan” in children over 7 years of age with phenylketonuria was demonstrated. Key words: children, specialized food product for dietary therapeutic nutrition, phenylalanine, phenylketonuria","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718746","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-1-83-92
E. Kostomarova, I. V. Zhuravleva, O.V. Pravoslavnaya, P. Shumilov, T.G. Demyanova, A. Chubarova, E. Tumanova, Y. Dmitrieva, A. Yudina, E. I. Epifanova, N. S. Korchagina
DGAT1-associated protein-losing enteropathy is a rare autosomal recessive disorder related to congenital diarrhea and associated with a mutation in the DGAT1 gene that encodes the enzyme DGAT1, which is responsible for the final step of triglyceride resynthesis in enterocytes. With insufficient activity of DGAT1 enzyme, fatty acids and diacylglycerols accumulate in the enterocyte, having a cytotoxic effect and causing enterocyte apoptosis. As a result, atrophic enteropathy develops, which is manifested as protein-losing diarrhea from the first months of life, iron deficiency anemia, and vitamin D deficiency. The currently known treatment methods for DGAT1-associated enteropathy are a low-fat diet and parenteral nutrition. This article presents the first genetically confirmed clinical case of DGAT1-associated protein-losing enteropathy in the Russian Federation. Key words: DGAT1, enteropathy, congenital diarrhea, protein-losing diarrhea, children
{"title":"DGAT1-associated protein-losing enteropathy: the first clinical case report in Russia","authors":"E. Kostomarova, I. V. Zhuravleva, O.V. Pravoslavnaya, P. Shumilov, T.G. Demyanova, A. Chubarova, E. Tumanova, Y. Dmitrieva, A. Yudina, E. I. Epifanova, N. S. Korchagina","doi":"10.20953/1727-5784-2023-1-83-92","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-1-83-92","url":null,"abstract":"DGAT1-associated protein-losing enteropathy is a rare autosomal recessive disorder related to congenital diarrhea and associated with a mutation in the DGAT1 gene that encodes the enzyme DGAT1, which is responsible for the final step of triglyceride resynthesis in enterocytes. With insufficient activity of DGAT1 enzyme, fatty acids and diacylglycerols accumulate in the enterocyte, having a cytotoxic effect and causing enterocyte apoptosis. As a result, atrophic enteropathy develops, which is manifested as protein-losing diarrhea from the first months of life, iron deficiency anemia, and vitamin D deficiency. The currently known treatment methods for DGAT1-associated enteropathy are a low-fat diet and parenteral nutrition. This article presents the first genetically confirmed clinical case of DGAT1-associated protein-losing enteropathy in the Russian Federation. Key words: DGAT1, enteropathy, congenital diarrhea, protein-losing diarrhea, children","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718060","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-1-52-65
A. Paraskevova, A. Trukhmanov, T. Lapina, S. S. Pirogov, A. Tertychny, O. Storonova, A. A. Makushina, V. Ivashkin
Eosinophilic esophagitis (EoE) is an immune-mediated disease characterized by complaints of dysphagia and eosinophilic infiltration of the esophageal epithelium with at least 15 cells per high power field (×400). Currently, there has been an increase in the incidence of EoE worldwide. Patients with EoE include both adults and children. The diagnosis of EoE requires morphological confirmation. Triggers for EoE can be aeroallergens and food allergens. EoE is often accompanied by other atopic diseases. The treatment of EoE is based on proton pump inhibitors (PPIs), topical glucocorticosteroids (GCs), and elemental or elimination diets. This review presents a detailed analysis of literature and proposes the therapeutic algorithm for patients with EoE. Key words: atopic diseases, dysphagia, eosinophilic infiltration, eosinophilic esophagitis
{"title":"Eosinophilic esophagitis: clinical presentation, current aspects of diagnosis and treatment","authors":"A. Paraskevova, A. Trukhmanov, T. Lapina, S. S. Pirogov, A. Tertychny, O. Storonova, A. A. Makushina, V. Ivashkin","doi":"10.20953/1727-5784-2023-1-52-65","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-1-52-65","url":null,"abstract":"Eosinophilic esophagitis (EoE) is an immune-mediated disease characterized by complaints of dysphagia and eosinophilic infiltration of the esophageal epithelium with at least 15 cells per high power field (×400). Currently, there has been an increase in the incidence of EoE worldwide. Patients with EoE include both adults and children. The diagnosis of EoE requires morphological confirmation. Triggers for EoE can be aeroallergens and food allergens. EoE is often accompanied by other atopic diseases. The treatment of EoE is based on proton pump inhibitors (PPIs), topical glucocorticosteroids (GCs), and elemental or elimination diets. This review presents a detailed analysis of literature and proposes the therapeutic algorithm for patients with EoE. Key words: atopic diseases, dysphagia, eosinophilic infiltration, eosinophilic esophagitis","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67717401","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 : 2023-01-01DOI: 10.20953/1727-5784-2023-1-76-82
V.S. Cherkasov, V. I. Popov, T. Nastausheva, O. Zhdanova
Objective. To assess infant and young child feeding practices from a local pediatrician’s perspective. Patients and methods. The empirical research based on a questionnaire survey of 50 local pediatric specialists in Voronezh children’s clinics was conducted. The questionnaire contained questions related to the issues of nutrition for children aged 0–3 years. Results. The analysis of survey results showed that the promotion of breastfeeding begins mostly during the prenatal period (60%). The questions related to artificial feeding arise among mothers from the birth of a child to 3 months of age (up to 50%); thereafter, their frequency decreases significantly (to 12%). Pediatricians do not always have enough time to talk to parents about principles for introducing complementary foods. Parents’ engagement in their child’s nutrition decreases after 1 year of age. Conclusion. Most respondents believe that the developed computer program will help to organize an adequate dietary plan for infants and young children. It will reduce the amount of time that specialists spend on pediatric nutrition counseling and draw parents’ attention to the issues of early childhood nutrition. Key words: infant and young child nutrition, breastfeeding, complementary feeding, rickets prevention, nutrition calculation software
{"title":"Role of primary health care in infant and young child nutrition","authors":"V.S. Cherkasov, V. I. Popov, T. Nastausheva, O. Zhdanova","doi":"10.20953/1727-5784-2023-1-76-82","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-1-76-82","url":null,"abstract":"Objective. To assess infant and young child feeding practices from a local pediatrician’s perspective. Patients and methods. The empirical research based on a questionnaire survey of 50 local pediatric specialists in Voronezh children’s clinics was conducted. The questionnaire contained questions related to the issues of nutrition for children aged 0–3 years. Results. The analysis of survey results showed that the promotion of breastfeeding begins mostly during the prenatal period (60%). The questions related to artificial feeding arise among mothers from the birth of a child to 3 months of age (up to 50%); thereafter, their frequency decreases significantly (to 12%). Pediatricians do not always have enough time to talk to parents about principles for introducing complementary foods. Parents’ engagement in their child’s nutrition decreases after 1 year of age. Conclusion. Most respondents believe that the developed computer program will help to organize an adequate dietary plan for infants and young children. It will reduce the amount of time that specialists spend on pediatric nutrition counseling and draw parents’ attention to the issues of early childhood nutrition. Key words: infant and young child nutrition, breastfeeding, complementary feeding, rickets prevention, nutrition calculation software","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67717954","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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