N.A. Irinina

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S.V. Voronin

Research Centre for Medical Genetics

Irina Yu. Efimova

Research Centre for Medical Genetics

Grigoriy I. Yakubovskiy

Andrey V. Marakhonov

Research Centre for Medical Genetics

Liya R. Nurgalieva

Research Centre for Medical Genetics

Sergey I. Kutsev

Research Centre for Medical Genetics

Anna Mukhinа

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

T. Belyaeva

Semey Medical University

Yulia V. Gabisova

Russian Children's Clinical Hospital

ТП

Т. П. Жукова

Ivanovo Research Institute of Motherhood and Childhood named after VN Gorodkov

Cooperative Institutions

Ministry of Health of the Russian Federation

Research Centre for Medical Genetics

Russian Academy of Sciences

Academy of Medical Sciences

Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Sechenov University

Pirogov Russian National Research Medical University

Yaroslavl State Medical Academy

Municipal Autonomous Healthcare Institution

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Results of a clinical study of a specialized food product for dietary therapeutic nutrition “Bifinilan” for children over seven years of age with phenylketonuria

Voprosy detskoj dietologii (2023)

Т. П. Жукова S. Yu. Ratnikova N.A. Irinina E.S. Zaytseva Н.Б. Седова

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

Tolerability

10.20953/1727-5784-2023-3-22-27

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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns

Journal of Clinical Immunology (2024)

Andrey V. Marakhonov Irina Yu. Efimova Anna Mukhinа Р. А. Зинченко Natalia Balinova

Medical microbiology

10.1007/s10875-024-01691-z

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Decreased TREC and KREC levels in newborns with trisomy 21

Frontiers in Pediatrics (2024)

Andrey V. Marakhonov Anna Mukhinа Е. В. Власова Irina Yu. Efimova Natalia Balinova

Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent association with T and/or B cell lymphopenia. The pilot NBS screening program recently conducted in Russia was aimed to identify both severe T and B cell deficiencies by measuring TREC and KREC. This study aims to evaluate the incidence of DS in newborns who participated in the pilot program, assess their TREC and KREC values, and determine the proportion of DS newborns potentially identifiable through T/B lymphopenia NBS. We conducted a retrospective analysis of the data obtained during the pilot NBS program, involving 202,908 newborns from eight regions of Russia. The study identified 157 patients with trisomy 21 among the screened cohort, resulting in a DS birth prevalence of 1:1,284. Median TREC and KREC values did not significantly differ between full-term and pre-term subgroups of DS patients. TREC values in DS newborns were decreased and comparable to those of the extremely preterm newborns. DS newborns also demonstrated significant differences in KREC values as compared to the general cohort regardless of gestational age. Our data suggests abnormalities of T- and B-cell lineages development and requires further investigation. This article highlights the need for increased awareness of the intrinsic immunological defects associated with DS. The findings underscore the importance of continued follow-up and comprehensive support by healthcare teams for individuals with DS.

Trisomy

10.3389/fped.2024.1468635

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Pharmacoeconomic analysis of use of specialized health food line «MDMIL PKU» in children from birth compared with diet therapy, started in later periods

Pharmacoeconomics theory and practice (2016)

Yu.V. Rybchenko A.Yu. Kulikov R.I. Yagudinа А. М. Никонов А. Н. Давыдова

Abstact: Phenylketonuria is a hereditary disease associated with a metabolic disorder of amino acids in the organism, the prevalence of which in the Russian Federation is 1:10000.Currently, the main treatment of phenylketonuria is diet therapy with specialized health food (a mixture of amino acids without phenylalanine).This research presents the results of a comparison of diet therapy with medicinal mixtures of MDmil PKU line taken from the first month of life of a child compared to food of other producers, taken in later periods.Efficiency analysis is based on data provided by the major regional genetics specialists from 24 regions of the Russian Federation on treatment of 1088 children suffering from phenylketonuria.Cost analysis of treatment of patients with PKU until their majority reveals least expensive diet therapy initiated from the first month of life with specialized health food of MDmil PKU line compared with diet, started in later periods with specialized products of different manufacturers.During the "cost-effectiveness" analysis and the "cost-utility"analysis indicators of CER and CUR are identified showing that when used from the first month of life diet therapy with MDmil PKU line compared with diet, started in later periods with various manufacturers, it is easy to determine treatment of the first group of children as dominant.Budget impact analysis shows that diet therapy with specialized health food of MDmil PKU line in treatment of phenylketonuria can achieve cost savings of 34% to 38% depending on periods of commencement of the diet.

10.30809/phe.1.2016.1

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