Voprosy Detskoi Dietologii最新文献

{"title":"Clinical case of acute food-protein induced enterocolitis syndrome (FPIES) as a manifestation of multiple food allergies","authors":"E. A. Filippova, N. Esakova, E. Varlamov, A. Pampura","doi":"10.20953/1727-5784-2023-1-94-100","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-1-94-100","url":null,"abstract":"Food protein-induced enterocolitis syndrome (FPIES) is a non-IgE-mediated food allergy manifested by delayed onset of gastrointestinal symptoms (1–4 hours after allergen consumption), which can lead to severe life-threatening conditions. The absence of specific laboratory markers of FPIES allowing to determine the trigger and confirm the diagnosis, unclear clinical features often masked by acute intestinal infections and other gastrointestinal diseases create significant difficulties in identifying patients with FPIES, choosing the right tactics for their management, and prescribing an adequate elimination diet. This article presents a clinical case of a patient who had multiple episodes of severe clinical manifestations of FPIES since the age of 6 months, requiring emergency hospitalization. The diagnosis of FPIES was first suspected at the age of 1.5 years; subsequently, the diagnosis was clinically confirmed, and a plan for further management of the child was developed. Key words: food protein-induced enterocolitis syndrome (FPIES), children, diagnosis, food allergy, trigger, oral food challenge test, cow’s milk protein allergy, meat allergy","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67718172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malnutrition in children with cystic fibrosis and its correction with a specialized formula","authors":"T. Bushueva, T. Borovik, E. Roslavtseva, O. Simonova, I. Sokolov, I. Guseva, N. V. Lyabina, A. Sokolova, A. Fisenko","doi":"10.20953/1727-5784-2023-1-5-13","DOIUrl":"https://doi.org/10.20953/1727-5784-2023-1-5-13","url":null,"abstract":"Objective. To determine the safety, tolerability, and clinical efficacy of the specialized dietary product “Clinutren Junior” in children with cystic fibrosis at the age of 1 to 10 years. Patients and methods. This study included 20 patients with cystic fibrosis (CF) aged 1 to 10 years who underwent treatment and rehabilitation at the Pulmonology Department of the National Medical Research Center for Children’s Health. According to the Shwachman index (SI), a severe course of CF (SI = 34.24 ± 1.97) was observed in 4 (20%) patients, a moderate course of CF (SI = 49.53 ± 1.76) in 12 (60%) patients, and a mild course of CF (SI = 61.5 ± 2.05) in 4 (20%) patients. All patients had malnutrition of varying severity. During dynamic observation, the children’s general health condition, nutritional status, including anthropometric and biochemical parameters, biological and nutritional value of the diet were evaluated. Results. Beneficial organoleptic properties of the formula and its good tolerability were noted. The analysis of the actual nutrition showed that the study product increased the protein quota and energy value of the age-differentiated standard sparing diet by 23-24%. Against the background of using the specialized formula, there was a tendency to improve the physical development of children, as evidenced by the complete elimination of mild malnutrition in 3 (3.8%) patients and a decrease in the number of patients with severe malnutrition. Conclusion. Inclusion of the specialized dietary product “Clinutren Junior” in the therapeutic diet for CF patients enhances and maintains their nutritional status at a satisfactory level, which in general provides a positive prognosis of the disease and improves the quality of life of patients and their families. Key words: cystic fibrosis, children, malnutrition, specialized food products","PeriodicalId":53444,"journal":{"name":"Voprosy Detskoi Dietologii","volume":"93 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67717310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"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":"1 1","pages":""},"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}

{"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":"1 1","pages":""},"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}

{"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":"1 1","pages":""},"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}

{"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":"1 1","pages":""},"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}

{"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":"1 1","pages":""},"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}

{"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":"1 1","pages":""},"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}

{"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":"43 1","pages":""},"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}

{"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":"36 1","pages":""},"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}