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Enrichment of gluten-free cereal bars based on expanded grain with functional ingredients of secondary products processed from black currant berries 以膨化谷物为基础,以黑加仑子浆果加工的二次产品为功能成分,强化无谷蛋白谷物棒
Q3 Medicine Pub Date : 2023-01-01 DOI: 10.20953/1727-5784-2023-2-90-94
S. Urubkov, N. V. Myasishcheva
Objective. To study the influence of functional components of the chemical composition of secondary products processed from black currant berries on the nutritional value of gluten-free cereal bars based on expanded grain and to establish the possibility of satisfying the daily requirements of vitamin C, bioflavonoids, dietary fiber, including pectin, in children when using them. Materials and methods. The objects of the study were expanded grains of millet, rice, buckwheat, amaranth, quinoa, as well as the powder obtained from black currant pomace. When studying the content of substances that determine the nutritional and biological value of black currant pomace powder, standard research methods were used. The nutritional value of gluten-free cereal bars was estimated by the calculation method. Results. The chemical composition of black currant pomace powder was studied. It was found that it contains a large amount of ascorbic acid (139.2 mg/100g) and bioflavonoids: anthocyanins (1381.1 mg/100 g), leuco-anthocyanins (864.9 mg/100 g), and catechins (739.4 mg/100 g). It is characterized by a high ratio of sugars and acids (4), as well as a high content of pectin substances and fiber (11.5 and 10.7%, respectively). The calculation of nutritional value showed that the addition of black currant pomace powder in the recipe of gluten-free cereal bars in an amount of 3.5% or more at the consumption of 100 g of the finished product can cover the daily requirements of children in bioflavonoids and dietary fiber, and an amount from 7.0% of the recipe allows to get a product enriched with vitamin C. Conclusion. The calculations of daily requirements performed in this study indicate the prospects of using black currant pomace powder as an enriching additive in specialized products for children over 3 years of age with gluten intolerance. Key words: gluten-free foods, children, cereal bars, gluten intolerance, expanded grain, black currant powder, biologically active substances
目标。研究黑加仑浆果加工二次产品化学成分的功能成分对以膨化谷物为基础的无麸质谷物棒的营养价值的影响,并确定在使用它们时满足儿童每日所需的维生素C、生物类黄酮、膳食纤维(包括果胶)的可能性。材料和方法。研究对象是小米、大米、荞麦、苋菜、藜麦的膨化粒,以及从黑加仑渣中获得的粉末。在研究黑加仑渣粉中决定其营养和生物学价值的物质含量时,采用了标准的研究方法。采用计算方法对无谷蛋白谷物棒的营养价值进行了估算。结果。对黑加仑渣粉的化学成分进行了研究。结果表明,其含有大量的抗坏血酸(139.2 mg/100g)和生物类黄酮:花青素(1381.1 mg/100g)、白花青素(864.9 mg/100g)和儿茶素(739.4 mg/100g),具有糖酸比高(4)、果胶物质和纤维含量高(分别为11.5%和10.7%)的特点。营养价值计算表明,在无麸质谷物棒配方中,每100 g成品中添加3.5%及以上的黑加仑渣粉,可满足儿童每日对生物黄酮和膳食纤维的需求,配方中添加7.0%的黑加仑渣粉,可获得富含维生素c的产品。本研究中进行的每日需取量计算表明,在针对3岁以上麸质不耐症儿童的专用产品中,使用黑加仑果渣粉作为强化添加剂是有前景的。关键词:无麸质食品,儿童,谷物棒,麸质不耐症,膨化谷物,黑加仑粉,生物活性物质
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引用次数: 0
Assessment of basal metabolic rate in adolescent athletes 青少年运动员基础代谢率的评估
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
目标。评估青少年优秀运动员的基础代谢强度。患者和方法。本研究纳入154名13-18岁的青少年运动员(男42人,女112人),平均年龄15.3±2.5岁。使用呼吸间接量热法和Harris-Benedict方程测量所有参与者的基础代谢率(BMR)。研究设计:单中心、横断面、随机、非对照。结果。79名(51%)参与者BMR增加,50名(33%)参与者BMR正常,25名(16%)参与者BMR下降。BMR增加在男孩中比女孩更常见(分别为83%和39%,p = 0.01),而BMR降低在女孩中比男孩更常见(分别为20%和4%,p = 0.001)。结论。大多数青少年运动员显示出BMR的增加,这反映了机体对高体力消耗的适应。BMR的降低可能表明运动员存在相对能量不足。Harris-Benedict方程明显低估了青少年运动员BMR的价值,当个体能量消耗评估作为生物医学支持的一部分是必要的时,它不能替代呼吸间接量热法。关键词:儿童;高性能运动;基础代谢率
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引用次数: 0
Association of the VDR gene with clinical manifestations, complications, and vitamin D status in children with juvenile idiopathic arthritis VDR基因与幼年特发性关节炎儿童临床表现、并发症和维生素D状况的相关性
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
目标。研究VDR基因基因变异(C . 1206t >C、C . 152t >C、C .1174+283G>A)与儿童特发性关节炎(JIA)临床表现、基因工程生物药物(gebd)需求及维生素D状况的相关性。患者和方法。本研究纳入150例JIA患儿(平均年龄:9.11±2.21岁)和333例健康对照。所有患者均进行血清钙二醇浓度测定。采用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)技术检测了VDR基因(C . 1206t >C、C .1175- 9g >T、C . 152t >C、C .1174+283G>A)的多态性变异。结果。遗传变异C . 1206t >C(A>G) TaqI的次要TT基因型携带者发生全身性JIA的可能性是其携带者的4倍,疾病高活动性和葡萄膜炎的可能性是其携带者的5倍,需要处方gebd的可能性是其携带者的9.9倍。遗传变异C . 152t >C . FokI的次要基因型TT携带者发生全身性JIA的可能性是7.7倍,多关节性JIA的可能性是4.3倍,疾病活动性高的可能性是6.2倍,葡萄膜炎的可能性是5.6倍,严重钙二醇缺乏的可能性是8倍,需要处方gebd的可能性是4倍。携带BsmlI多态性的小AA基因型(c.1174+283G>A)使全身性JIA的风险增加17倍,高疾病活动性和葡萄膜炎的风险增加18倍,需要gebd的风险增加15倍;携带AA和GA基因型的人患钙二醇缺乏症的风险增加5倍,严重钙二醇缺乏症的风险增加9倍。结论。所有研究的VDR基因变异均可证实影响JIA的临床表现、并发症、钙二醇水平和治疗反应的发展。关键词:VDR基因,青少年特发性关节炎,儿童,维生素D,自身免疫性疾病
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引用次数: 0
Clinical case of hereditary pancreatitis in four siblings due to mutations in the PRSS1 gene 由于PRSS1基因突变导致的四兄弟姐妹遗传性胰腺炎的临床病例
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
儿童遗传性胰腺炎仍然是临床遗传学、胃肠病学和外科的一个具有挑战性的问题。遗传原因占所有急性复发性胰腺炎病例的50%以上,占儿童慢性胰腺炎的75%。慢性胰腺炎的发生通常是由CFTR、PRSS1、SPINK1、CTRC和CPA1基因突变引起的。本文报道一例常染色体显性遗传的4个兄弟姐妹的遗传性胰腺炎的临床病例,在分子基因检测中检测到PRSS1基因的致病变异。关键词:遗传性胰腺炎,致病变异,PRSS1基因,儿童,兄弟姐妹
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引用次数: 0
Prognostic factors for outcomes in patients with cystic fibrosis who are observed at the Federal Clinical Center 在联邦临床中心观察到的囊性纤维化患者预后因素
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
目标。根据病程的多变量分析,确定在联邦临床中心观察到的囊性纤维化患者临床结果的显著影响因素。患者和方法。分析了657例囊性纤维化患者的病历。生存率根据基因突变类型和患者性别进行分析。基于来自国家登记的36个参数,开发了预测2年生存结果的动态模型。结果。采用标记法对动态数据进行多变量Cox比例风险模型分析,结果显示,2年生命期死亡率与以下因素之间存在统计学显著相关:FEV1(相对危险度RR): 0.95;95%置信区间(CI): 0.94-0.97);囊性纤维化相关性糖尿病(RR: 2.36;置信区间:1.47—-3.80);洋葱伯克霍尔德菌复合感染(RR: 3.22;置信区间:2.12—-4.91);需氧量(RR: 1.9;置信区间:1.15—-3.12);既往气胸(RR: 2.72;置信区间:1.19—-6.20);维生素治疗(RR: 2.72;置信区间:1.09—-6.81);胰酶摄入量(RR: 0.38);置信区间:0.17—-0.86)。结论。对预后生存因素的认识将有助于优化囊性纤维化患者的治疗和康复方案,这将导致患者预期寿命的增加。关键词:囊性纤维化,儿童,生存率
{"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}
引用次数: 0
Clinical features of 22q11.2 deletion syndrome in early childhood 儿童早期22q11.2缺失综合征的临床特征
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
迪乔治综合征的特点是圆锥状心脏缺陷、免疫缺陷状态和甲状旁腺发育不全。当代医学描述了180多种这种疾病的临床形式,通常归类在“染色体22q11.2缺失综合征”(D 82.1)的标题下。除了上述异常外,22q11.2DS还存在其他畸形和病理情况,不仅使诊断、新生儿护理和进一步治疗复杂化,而且导致手术干预的频率增加。本文报告8例22q11.2DS合并多种先天性疾病的临床病例。观察的患儿有中枢神经、颌面、泌尿生殖系统、肌肉骨骼系统、肛肠区、膈疝和腹股沟疝等畸形。关键词:多发性先天性疾病,22q11.2缺失综合征,DiGeorge综合征,锥形先天性心脏缺陷,唇腭裂,肛肠畸形,甲状旁腺功能低下,言语和精神运动发育迟缓,原发性免疫缺陷
{"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}
引用次数: 0
Knowledge and awareness of celiac disease among Russian healthcare professionals 俄罗斯医疗保健专业人员对乳糜泻的认识和认识
Q3 Medicine Pub Date : 2023-01-01 DOI: 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":"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}
引用次数: 0
Results of a clinical study of a specialized food product for dietary therapeutic nutrition “Bifinilan” for children over seven years of age with phenylketonuria 一项针对7岁以上苯丙酮尿症儿童的特殊食品“比非尼兰”的临床研究结果
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
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引用次数: 0
DGAT1-associated protein-losing enteropathy: the first clinical case report in Russia dgat1相关蛋白丢失性肠病:俄罗斯首例临床病例报告
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
DGAT1相关蛋白缺失性肠病是一种罕见的常染色体隐性遗传病,与先天性腹泻有关,与编码DGAT1酶的DGAT1基因突变有关,DGAT1酶在肠细胞中负责甘油三酯再合成的最后一步。由于DGAT1酶活性不足,脂肪酸和二酰基甘油在肠细胞内积聚,具有细胞毒性作用,导致肠细胞凋亡。结果,萎缩性肠病发展,表现为生命最初几个月的蛋白质丢失性腹泻,缺铁性贫血和维生素D缺乏。目前已知的dgat1相关肠病的治疗方法是低脂饮食和肠外营养。本文介绍了俄罗斯联邦第一例遗传证实的dgat1相关蛋白丢失性肠病的临床病例。关键词:DGAT1,肠病,先天性腹泻,蛋白质失失性腹泻,儿童
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引用次数: 0
Eosinophilic esophagitis: clinical presentation, current aspects of diagnosis and treatment 嗜酸性粒细胞性食管炎的临床表现、诊断和治疗现状
Q3 Medicine Pub Date : 2023-01-01 DOI: 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
嗜酸性粒细胞性食管炎(EoE)是一种免疫介导的疾病,其特征是吞咽困难和食管上皮嗜酸性粒细胞浸润,每高倍视场至少有15个细胞(×400)。目前,在世界范围内,EoE的发病率呈上升趋势。EoE患者包括成人和儿童。EoE的诊断需要形态学确认。EoE的诱因可以是空气过敏原和食物过敏原。EoE常伴有其他特应性疾病。EoE的治疗是基于质子泵抑制剂(PPIs),局部糖皮质激素(GCs)和元素或消除饮食。本文对文献进行了详细的分析,并提出了EoE患者的治疗算法。关键词:特应性疾病,吞咽困难,嗜酸性粒细胞浸润,嗜酸性粒细胞性食管炎
{"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}
引用次数: 0
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Voprosy Detskoi Dietologii
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