المؤلفون: V. V. Оmelyanovskiy, S. I. Kutsev, P. A. Mukhortova, A. G. Kharitonova, A. A. Slabikova, N. V. Ignatyeva, A. A. Kingshott, T. S. Teptsova, V. O. Bogdanova, В. В. Омельяновский, С. И. Куцев, П. А. Мухортова, А. Г. Харитонова, А. А. Слабикова, Н. В. Игнатьева, А. А. Кингшотт, Т. С. Тепцова, В. О. Богданова

المساهمون: The search and analytical work were carried out using the personal funds of the authors’ team., Поисково-аналитическая работа проведена на личные средства авторского коллектива.

المصدر: Kachestvennaya Klinicheskaya Praktika = Good Clinical Practice; № 4 (2024); 82-96 ; Качественная клиническая практика; № 4 (2024); 82-96 ; 2618-8473 ; 2588-0519

وصف الملف: application/pdf

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الاتاحة: https://www.clinvest.ru/jour/article/view/765
https://doi.org/10.37489/2588-0519-2024-4-82-96

المؤلفون: S. N. Avdeev, E. I. Kondratyeva, R. S. Kozlov, L. S. Namazova-Baranova, E. Kh. Anaev, Yu. L. Mizernitskiy, A. V. Lyamin, S. K. Zyryanov, Т. E. Gembitskaya, E. A. Tarabrin, L. R. Selimzyanova, S. I. Kutsev, С. Н. Авдеев, Е. И. Кондратьева, Р. С. Козлов, Л. С. Намазова-Баранова, Э. Х. Анаев, Ю. Л. Мизерницкий, А. В. Лямин, С. К. Зырянов, Т. Е. Гембицкая, Е. А. Тарабрин, Л. Р. Селимзянова, С. И. Куцев

المساهمون: The article was prepared with the financial support of Solopharm, Статья подготовлена при финансовой поддержке компании Solopharm

المصدر: PULMONOLOGIYA; Том 34, № 2 (2024); 158-174 ; Пульмонология; Том 34, № 2 (2024); 158-174 ; 2541-9617 ; 0869-0189

مصطلحات موضوعية: муколитическая и антибактериальная терапия, computed tomography, microbiology, mucolytic and antibacterial therapy, компьютерная томография, микробиология

وصف الملف: application/pdf

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الاتاحة: https://journal.pulmonology.ru/pulm/article/view/4474
https://doi.org/10.18093/0869-0189-2024-34-2-158-174

المؤلفون: E. L. Dadali, T. V. Markova, E. A. Melnik, S. S. Nikitin, I. V. Sharkova, O. V. Khalanskaya, L. A. Bessonov, E. A. Shestopalova, O. P. Ryzhkova, S. I. Trofimova, O. E. Agranovich, S. I. Kutsev, Е. Л. Дадали, Т. В. Маркова, Е. А. Мельник, С. С. Никитин, И. В. Шаркова, О. В. Халанская, Л. А. Бессонова, Е. А. Шестопалова, О. П. Рыжкова, С. И. Трофимова, О. Е. Агранович, С. И. Куцев

المصدر: Neuromuscular Diseases; Том 14, № 2 (2024); 25‑37 ; Нервно-мышечные болезни; Том 14, № 2 (2024); 25‑37 ; 2413-0443 ; 2222-8721

مصطلحات موضوعية: дистальный артрогрипоз 5‑го типа, механочувствительный ионный канал, ген PIEZO2

وصف الملف: application/pdf

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الاتاحة: https://nmb.abvpress.ru/jour/article/view/600
https://doi.org/10.17650/2222-8721-2024-14-2-25-37

المؤلفون: S. V. Kostyuk, E. M. Malinovskaya, E. S. Ershova, L. V. Kameneva, E. A. Savinova, S. E. Kostyuk, T. A. Salimova, A. V. Zhilenkov, O. A. Kraevaya, P. A. Troshin, V. L. Izhevskaya, S. I. Kutsev, N. N. Veiko, С. В. Костюк, Е. М. Малиновская, Е. С. Ершова, Л. В. Каменева, Е. А. Савинова, С. Э. Костюк, Т. А. Салимова, А. В. Жиленков, О. А. Краевая, П. А. Трошин, В. Л. Ижевская, С. И. Куцев, Н. Н. Вейко

المساهمون: The study was supported by a government assignment from the Ministry of Science and Higher Education, Исследование выполнено при финансовой поддержке Министерства науки и высшего образования РФ в рамках государственного задания

المصدر: Medical Genetics; Том 23, № 1 (2024); 3-18 ; Медицинская генетика; Том 23, № 1 (2024); 3-18 ; 2073-7998

مصطلحات موضوعية: генотоксичность, reactive oxygen species, antioxidant properties, antiviral activity, genotoxicity, активные формы кислорода, антиоксидантные свойства, противовирусная активность

وصف الملف: application/pdf

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الاتاحة: https://www.medgen-journal.ru/jour/article/view/2406
https://doi.org/10.25557/2073-7998.2024.01.3-18

المؤلفون: D. V. Osipova, T. V. Markova, V. M. Kenis, E. V. Melchenko, T. S. Nagornova, I. P. Nikishina, E. Yu. Zakharova, E. L. Dadali, S. I. Kutsev, Д. В. Осипова, Т. В. Маркова, В. М. Кенис, Е. В. Мельченко, Т. С. Нагорнова, И. П. Никишина, Е. Ю. Захарова, Е. Л. Дадали, С. И. Куцев

المصدر: Rheumatology Science and Practice; Vol 61, No 5 (2023); 608-617 ; Научно-практическая ревматология; Vol 61, No 5 (2023); 608-617 ; 1995-4492 ; 1995-4484

مصطلحات موضوعية: COL9A2, juvenile arthritis, skeletal dysplasia, COMP, SLC26A2, ювенильный артрит, скелетная дисплазия

وصف الملف: application/pdf

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Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30; Halász K, Kassner A, Mörgelin M, Heinegård D. COMP acts as a catalyst in collagen fibrillogenesis. J Biol Chem. 2007;282(43):31166-31173. doi:10.1074/jbc.M705735200; Tan K, Duquette M, Joachimiak A, Lawler J. The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding. FASEB J. 2009;23(8):2490-2501. doi:10.1096/fj.08-128090; Chen TL, Posey KL, Hecht JT, Vertel BM. COMP mutations: Domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes. J Cell Biochem. 2008;103(3):778-787. doi:10.1002/jcb.21445; Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, et al. 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Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A. 2010;152A(4):863-869. doi:10.1002/ajmg.a.33240; Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, ReeveDaly MP, Daly M, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994;78(6):1073-1087. doi:10.1016/0092-8674(94)90281-x; Härkönen H, Loid P, Mäkitie O. SLC26A2-associated diastrophic dysplasia and rMED-clinical features in affected finnish children and review of the literature. Genes (Basel). 2021;12(5):714. doi:10.3390/genes12050714; Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 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الاتاحة: https://rsp.mediar-press.net/rsp/article/view/3445
https://doi.org/10.47360/1995-4484-2023-608-617

المؤلفون: S. N. Avdeev, E. I. Kondratyeva, L. S. Namazova-Baranova, S. I. Kutsev, С. Н. Авдеев, Е. И. Кондратьева, Л. С. Намазова-Баранова, С. И. Куцев

المساهمون: The study did not have direct financial support, Спонсорская поддержка исследования отсутствовала

المصدر: PULMONOLOGIYA; Том 33, № 2 (2023); 151-169 ; Пульмонология; Том 33, № 2 (2023); 151-169 ; 2541-9617 ; 0869-0189

مصطلحات موضوعية: пневмоторакс, molecular diagnostics, genes, exome, sequencing, bronchiectasis, accumulation diseases, fibrosis, pneumothorax, молекулярная диагностика, гены, экзом, секвенирование, бронхоэктазы, болезни накопления, фиброз

وصف الملف: application/pdf

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Доступно на: https://www.mediasphera.ru/issues/laboratornaya-sluzhba/2014/1/032305-2198201415; Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015; 17 (5): 405-424. DOI:10.1038/gim.2015.30.; Воинова В.Ю., Николаева Е.А., Щербакова Н.В., Яблонская М.И. Высокопроизводительное секвенирование ДНК для идентификации генетически детерминированных заболеваний в педиатрической практике. Российский вестник перинатологии и педиатрии. 2019; 64 (1): 103-109. https://doi.org/10.21508/1027-4065-2019-64-1-103-109; https://journal.pulmonology.ru/pulm/article/view/4223

الاتاحة: https://journal.pulmonology.ru/pulm/article/view/4223
https://doi.org/10.18093/0869-0189-2023-33-2-151-169

المؤلفون: E. I. Kondratyeva, A. Yu. Voronkova, N. Yu. Kashirskaya, S. A. Krasovsky, M. A. Starinova, E. L. Amelina, S. N. Avdeev, S. I. Kutsev, Е. И. Кондратьева, А. Ю. Воронкова, Н. Ю. Каширская, С. А. Красовский, М. А. Старинова, Е. Л. Амелина, С. Н. Авдеев, С. И. Куцев

المساهمون: The authors did not declare any conflicts of interests, Статья подготовлена при финансовой поддержке компании Solopharm

المصدر: PULMONOLOGIYA; Том 33, № 2 (2023); 171-181 ; Пульмонология; Том 33, № 2 (2023); 171-181 ; 2541-9617 ; 0869-0189

مصطلحات موضوعية: таргетная терапия, registry, pathogenic variants of the CFTR gene, spirometry, targeted therapy, регистр, патогенные варианты гена CFTR, спирометрия

وصف الملف: application/pdf

Relation: https://journal.pulmonology.ru/pulm/article/view/4209/3508; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4209/1750; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4209/1751; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4209/1788; Кондратьева Е.И., Красовский С.А., Старинова МА. и др., ред. Регистр пациентов с муковисцидозом в Российской Федерации. 2020 год. М.: Медпрактика-М; 2022. Доступно на: https://api.med-gen.ru/site/assets/files/51107/site_registre_2020.pdf [Дата обращения: 05.12.22].; European Cystic Fibrosis Society. ECFS patient registry. Updated: February 13, 2019. Available at: https://www.ecfs.eu/projects/ecfs-patient-registry/project [Accessed: December 12, 2022].; Salvatore D., Buzzetti R., Mastella G. An overview of international literature from cystic fibrosis registries. Part 5: Update 2012-2015 on lung disease. Pediatr. Pulmonol. 2016; 51 (11): 1251-1263. DOI:10.1002/ppul.23473.; Vongthilath R., Richaud Thiriez B., Dehillotte C. et al. Clinical and microbiological characteristics of cystic fibrosis adults never colonized by pseudomonas aeruginosa: analysis of the french CF registry. PLoS One. 2019; 14 (1): e0210201. DOI:10.1371/journal.pone.0210201.; McKone E.F., Ariti C., Jackson A. et al. Survival estimates in European cystic fibrosis patients and the impact of socioeconomic factors: a retrospective registry cohort study. Eur. Respir. J. 2021; 58 (3): 2002288. DOI:10.1183/13993003.02288-2020.; European Cystic Fibrosis Society. ECFS patient registry annual data report. 2020. Available at: https://www.ecfs.eu/sites/default/files/ECFSPR_Report_2020_v1.0%20%2807Jun2022%29_website.pdf [Accessed: December 10, 2022].; Красовский С.А., Амелина Е.Л., Черняк А.В. и др. Роль регистра московского региона в ведении больных муковисцидозом. Пульмонология. 2013; (2): 27-32. DOI:10.18093/0869-0189-2013-0-2-27-32.; Ашерова И.К., Капранов Н.И. Регистр как средство улучшения качества медицинской помощи больным муковисцидозом. Педиатрическая фармакология. 2012; 9 (3): 96-100. DOI:10.15690/pf.v9i3.330.; Кондратьева Е.И., Воронкова А.Ю., Бобровничий В.И. и др. Клинико-генетическая и микробиологическая характеристика больных муковисцидозом, проживающих в Московском регионе и Республике Беларусь. Пульмонология. 2018; 28 (3): 296-306. DOI:10.18093/0869-0189-2018-28-3-296-306.; Красовский С.А., Черняк А.В., Воронков А.Ю. и др. (ред.). Регистр больных муковисцидозом в Российской Федерации. 2016. М.: Медпрактика-М; 2018. Доступно на: https://mukoviscidoz.org/doc/registr/Registre_2016%20ctp.pdf [Дата об -ращения: 05.12.22].; Кистозный фиброз (муковисцидоз). Клинические рекомендации. 2021. Доступно на: https://mukoviscidoz.org/doc/%D0%9A%D0%A0372.pdf [Дата обращения: 10.12.22].; Castellani C., Duff A.J.A., Bell S.C. et al. ECFS best practice guidelines: the 2018 revision. J. Cyst. Fibres. 2018; 17 (2): 153-178. DOI:10.1016/j.jcf.2018.02.006.; European Cystic Fibrosis Society. Patient Registry. 2021. Available at: https://www.cff.org/medical-professionals/patient-registry [Accessed: December 10, 2022].; Michon A.L., Jumas-Bilak E., Chiron R. et al. Advances toward the elucidation of hypertonic saline effects on Pseudomonas aeruginosa from cystic fibrosis patients. PLoS One. 2014; 9 (2): e90164. DOI:10.1371/journal.pone.0090164.; Thorarinsdottir H.R., Kander T., Holmberg A. et al. Biofilm formation on three different endotracheal tubes: a prospective clinical trial. Crit. Care. 2020; 24 (1): 382. DOI:10.1186/s13054-020-03092-1.; Mitra S., Schiller D., Anderson C. et al. Hypertonic saline attenuates the cytokine-induced pro-inflammatory signature in primary human lung epithelia. PLoS One. 2017; 12 (12): e0189536. DOI:10.1371/journal.pone.0189536.; Buonpensiero P., De Gregorio F., Sepe A. et al. Hyaluronic acid improves “pleasantness” and tolerability of nebulized hypertonic saline in a cohort of patients with cystic fibrosis. Adv. Ther. 2010; 27 (11): 870-878. DOI:10.1007/s12325-010-0076-8.; Семивеличенко Е.Д., Ивкин Д.Ю., Оковитый С.В., Карев В.Е. Эффективность медицинского изделия на основе гипертонического раствора натрия хлорида (7 %) и натрия гиалуроната (0,1 %) на модели экспериментального фиброза легких. Фарматека. 2022; 29 (10): 31-36. DOI:10.18565/pharmateca.2022.10.31-36.; https://journal.pulmonology.ru/pulm/article/view/4209

الاتاحة: https://journal.pulmonology.ru/pulm/article/view/4209
https://doi.org/10.18093/0869-0189-2023-33-2-171-181

المؤلفون: E. I. Kondratyeva, N. D. Odinaeva, E. K. Zhekaite, E. V. Pasnova, I. R. Fatkhullina, T. Yu. Maksimycheva, V. D. Sherman, S. I. Kutsev, Е. И. Кондратьева, Н. Д. Одинаева, Е. К. Жекайте, Е. В. Паснова, И. Р. Фатхуллина, Т. Ю. Максимычева, В. Д. Шерман, С. И. Куцев

المساهمون: The work was carried out under the state task of the Ministry of Science and Higher Education of the Russian Federation for the Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation, on the topic: “Comprehensive analysis of geno-phenotypic correlations in cystic fibrosis and primary ciliary dyskinesia” No.122032300396-1, Работа выполнена в рамках государственного задания Министерства науки и высшего образования Российской Федерации для Федерального государственного бюджетного научного учреждения «Медико-генетический научный центр имени академика Н.П.Бочкова» Министерства науки и высшего образования Российской Федерации по теме «Комплексный анализ генофенотипических корреляций при муковисцидозе и первичной цилиарной дискинезии» № 122032300396-1

المصدر: PULMONOLOGIYA; Том 33, № 2 (2023); 189-197 ; Пульмонология; Том 33, № 2 (2023); 189-197 ; 2541-9617 ; 0869-0189

مصطلحات موضوعية: функция внешнего дыхания, CFTR, modulators of the transmembrane regulator of cystic fibrosis, targeted therapy, sweat test, respiratory function, модуляторы трансмембранного регулятора муковисцидоза, таргетная терапия, потовый тест

وصف الملف: application/pdf

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الاتاحة: https://journal.pulmonology.ru/pulm/article/view/4213
https://doi.org/10.18093/0869-0189-2023-33-2-189-197

المؤلفون: Inga V. Anisimova, Svetlana B. Artemyeva, Elena D. Belousova, Nato D. Vashakmadze, Dmitriy V. Vlodavets, Tatiana A. Gremyakova, Olga S. Groznova, Valentina I. Guzeva, Elena V. Gusakova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Sergey I. Kutsev, Svetlana V. Mikhaylova, Lyudmila P. Nazarenko, Sergey S. Nikitin, Artem Yu. Novikov, Tatiana V. Podkletnova, Elena V. Polevichenko, Alexander V. Polyakov, Gennady G. Prokopyev, Dmitry I. Rudenko, Svetlana A. Repina, Evgeniia V. Romanenko, Sergey O. Ryabykh, Gul’zhan E. Sakbaeva, Elena Yu. Sapego, Liliia R. Selimzyanova, Andrey A. Stepanov, Dmitry M. Subbotin, Vasiliy M. Suslov, Elena V. Tozliyan, Dmirty A. Feklistov, Nadezhda I. Shakhovskaya, Ekaterina V. Shreder, И. В. Анисимова, С. Б. Артемьева, Е. Д. Белоусова, Н. Д. Вашакмадзе, Д. В. Влодавец, Т. А. Гремякова, О. С. Грознова, В. И. Гузева, Е. В. Гусакова, Л. М. Кузенкова, А. Л. Куренков, С. И. Куцев, С. В. Михайлова, Л. П. Назаренко, С. С. Никитин, А. Ю. Новиков, Т. В. Подклетнова, Е. В. Полевиченко, А. В. Поляков, Г. Г. Прокопьев, Д. И. Руденко, С. А. Репина, Е. В. Романенко, С. О. Рябых, Г. Е. Сакбаева, Е. Ю. Сапего, Л. Р. Селимзянова, А. А. Степанов, Д. М. Субботин, В. М. Суслов, Е. В. Тозлиян, Д. А. Феклистов, Н. И. Шаховская, Е. В. Шредер

المساهمون: Not specified, Отсутствует

المصدر: Pediatric pharmacology; Том 20, № 5 (2023); 427-453 ; Педиатрическая фармакология; Том 20, № 5 (2023); 427-453 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, hereditary diseases, cardiomyopathies, pathogenetic therapy, rehabilitation, children, наследственные заболевания, кардиомиопатии, патогенетическая терапия, реабилитация

وصف الملف: application/pdf

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Eur J Paediatr Neurol. 2006;10(4):186–191. doi: https://doi.org/10.1016/j.ejpn.2006.07.002; Aydin Yağcioğlu G, Alemdaroğlu Gürbüz İ, Karaduman A, et al. Kinesiology Taping in Duchenne Muscular Dystrophy: Acute Effects on Performance, Gait Characteristics, and Balance. Dev Neurorehabil. 2021;24(3):199–204. doi: https://doi.org/10.1080/17518423.2020.1839805; Abresch RT, Carter GT, Han JJ, McDonald CM. Exercise in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):653–673. doi: https://doi.org/10.1016/j.pmr.2012.06.001; Alemdaroğlu I, Karaduman A, Yilmaz ÖT, Topaloğlu H. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation. Muscle Nerve. 2015;51(5):697–705. doi: https://doi.org/10.1002/mus.24451; Hind D, Parkin J, Whitworth V, et al. Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation. Health Technol Assess. 2017;21(27):1–120. doi: https://doi.org/10.3310/hta21270; Bulut N, Karaduman A, Alemdaroğlu-Gürbüz İ, et al. The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study. Clin Rehabil. 2022;36(8):1062–1071. doi: https://doi.org/10.1177/02692155221095491; Jansen M, van Alfen N, Geurts AC, de Groot IJ. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial “no use is disuse”. Neurorehabil Neural Repair. 2013;27(9):816–827. doi: https://doi.org/10.1177/1545968313496326; Darmahkasih AJ, Rybalsky I, Tian C, et al. Neurodevelopmental, Behavioral, and Emotional Symptoms Common in Duchenne Muscular Dystrophy. Muscle Nerve. 2020;61(4):466–474. doi: https://doi.org/10.1002/mus.26803; Araujo APQC, Nardes F, Fortes CPDD, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care. Arq Neuropsiquiatr. 2018;76(7):481–489. doi: https://doi.org/10.1590/0004-282X20180062; Chen H. A Mini-Review on The Rehabilitation of Duchenne Muscular Dystrophy. EPMR. 2021;3(2):000560. doi: https://doi.org/10.31031/EPMR.2021.03.000560; Richardson M, Frank AO. Electric powered wheelchairs for those with muscular dystrophy: problems of posture, pain and deformity. Disabil Rehabil Assist Technol. 2009;4(3):181–188. doi: https://doi.org/10.1080/17483100802543114; Pedlow K, McDonough S, Lennon S, et al. Assisted standing for Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2019;10(10):CD011550. doi: https://doi.org/10.1002/14651858.CD011550.pub2; Saito T, Ohfuji S, Matsumura T, et al. Safety of a Pandemic Influenza Vaccine and the Immune Response in Patients with Duchenne Muscular Dystrophy. Intern Med. 2015;54(10):1199–1205. doi: https://doi.org/10.2169/internalmedicine.54.1186; Vaccination recommendations. In: Parent Project Muscular Dystrophy: Official website. Available online: https://www.parentpro-jectmd.org/site/PageServer?pagename=Care_area_vaccinations. Accessed on August 18, 2023.; Mochizuki H, Okahashi S, Ugawa Y, et al. Heart rate variability and hypercapnia in Duchenne muscular dystrophy. Intern Med. 2008;47(21):1893–1897. doi: https://doi.org/10.2169/internalmedicine.47.1118; Takasugi T, Ishihara T, Kawamura J, et al. Blood gas changes in Duchenne type muscular dystrophy. Nihon Kyobu Shikkan Gakkai Zasshi. 1995;33(1):17–22.; West NA, Yang ML, Weitzenkamp DA, et al. Patterns of growth in ambulatory males with Duchenne muscular dystrophy. J Pediatr. 2013;163(6):1759–1763.e1. doi: https://doi.org/10.1016/j.jpeds.2013.08.004; Lohman TG, Roche AF, Martorell R. Anthropometric standardization reference manual. Champaign, IL: Human Kinetic Books; 1988.; van Bockel EA, Lind JS, Zijlstra JG, et al. Cardiac assessment of patients with late stage Duchenne muscular dystrophy. Neth Heart J. 2009;17(6):232–237. doi: https://doi.org/10.1007/BF03086253; Martins E, Silva-Cardoso J, Silveira F, et al. Left ventricular function in adults with muscular dystrophies: genotype-phenotype correlations. Rev Port Cardiol. 2005;24(1):23–35.; Cummings EA, Ma J, Fernandez CV, et al. Incident Vertebral Fractures in Children With Leukemia During the Four Years Following Diagnosis. J Clin Endocrinol Metab. 2015;100(9):3408–3417. doi: https://doi.org/10.1210/JC.2015-2176; Christiansen BA, Bouxsein ML. Biomechanics of vertebral fractures and the vertebral fracture cascade. 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الاتاحة: https://www.pedpharma.ru/jour/article/view/2348
https://doi.org/10.15690/pf.v20i5.2615

المؤلفون: Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova, А. А. Баранов, Т. Т. Батышева, О. В. Быкова, Н. Д. Вашакмадзе, Е. В. Вислобокова, А. В. Витебская, Е. А. Вишнева, В. Ю. Воинова, Н. В. Журкова, Е. Ю. Захарова, Л. П. Кисельникова, М. М. Костик, С. И. Куцев, Т. В. Маргиева, Л. С. Намазова-Баранова, С. В. Михайлова, С. В. Моисеев, Т. С. Нагорнова, Л. Р. Селимзянова, А. Н. Семячкина, О. Я. Смирнова, М. В. Федосеенко, С. В. Пищальникова

المساهمون: Not specified., Отсутствует.

المصدر: Pediatric pharmacology; Том 20, № 4 (2023); 318-336 ; Педиатрическая фармакология; Том 20, № 4 (2023); 318-336 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, alkaline phosphatase, nephrocalcinosis, treatment, children, щелочная фосфатаза, нефрокальциноз, лечение

وصف الملف: application/pdf

Relation: https://www.pedpharma.ru/jour/article/view/2343/1521; Whyte MP. Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233-246. doi: https://doi.org/10.1038/nrendo.2016.14; Millan JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398-416. doi: https://doi.org/10.1007/s00223-015-0079-1; Mornet E, Yvard A, Taillandier A, et al. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439-445. doi: https://doi.org/10.1111/j.1469-1809.2011.00642.x; Гуркина Е.Ю., Воинова В.Ю., Кузенкова Л.М. и др. Гипофосфатазия. Обзор клинических случаев, опубликованных в РФ // РМЖ. — 2021. — № 2. — С. 42-48.; Tsang T, Raghuwanshi MP. Hypophosphatasia Misdiagnosed as Osteoporosis in a Young Girl. J Endocr Soc. 2021;5(Suppl 1):A201-A202. doi: https://doi.org/10.1210/jendso/bvab048.409; Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015;75:229-239. doi: https://doi.org/10.1016/j.bone.2015.02.022; Bishop N, Munns CF, Ozono K. Transformative therapy in hypophosphatasia. Arch Dis Child. 2016;101(6):514-515. doi: https://doi.org/10.1136/archdischild-2015-309579; Anderson HC, Harmey D, Camacho NP, et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. Am J Pathol. 2005;166(6):1711-1720. doi: https://doi.org/10.1016/S0002-9440(10)62481-9; Braunstein NA. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia. Bone Rep. 2016;4:1-4. doi: https://doi.org/10.1016/j.bonr.2015.10.005; Whyte M. Hypophosphatasia. In: Genetics of bone biology and skeletal disease. Thakker RV, Whyte MP, Eisman J, Igarashi T, eds. London: Academic Press; 2013. pp. 337-360.; Whyte MP, Coburn SP, Ryan LM, et al. Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. Bone. 2018;110:96-106. doi: https://doi.org/10.1016/j.bone.2018.01.022; Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018;13(1):116. doi: https://doi.org/10.1186/s13023-018-0866-7; Simon S, Resch H, Klaushofer K, et al. Hypophosphatasia: From Diagnosis to Treatment. Curr Rheumatol Rep. 2018;20(11):69. doi: https://doi.org/10.1007/s11926-018-0778-5; Khan AA, Josse R, Kannu P, et al. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019;30(9):1713-1722. doi: https://doi.org/10.1007/s00198-019-04921-y; Mornet E. Hypophosphatasia. Metabolism. 2018;82:142-155. doi: https://doi.org/10.1016/j.metabol.2017.08.013; Briot K, Roux C. Adult hypophosphatasia. Arch Pediatr. 2017;24(5S2):5S71-5S73. doi: https://doi.org/10.1016/S0929-693X(18)30018-6; Kishnani PS, Rush ET, Arundel P, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017;122(1-2):4-17. doi: https://doi.org/10.1016/j.ymgme.2017.07.010; Michigami T, Ohata Y, Fujiwara M, et al. Clinical Practice Guidelines for Hypophosphatasia. Clin Pediatr Endocrinol. 2020;29(1):9-24. doi: https://doi.org/10.1297/cpe.29.9; Estey MP, Cohen AH, Colantonio DA, et al. CLSI-based transference of the CALIPER database of pediatric reference intervals from Abbott to Beckman, Ortho, Roche and Siemens Clinical Chemistry Assays: direct validation using reference samples from the CALIPER cohort. Clin Biochem. 2013;46(13-14):1197-1219. doi: https://doi.org/10.1016/j.clinbiochem.2013.04.001; Ройтман А.П., Мамедов И.С., Сухоруков В.С. Референтные интервалы активности щелочной фосфатазы у детей в сыворотке крови. Лабораторная диагностика гипофосфатазии // Лабораторная служба. — 2015. — Т. 4. — № 1. — С. 35-41. — doi: https://doi.org/10.17116/labs20154135-41; Whyte MP, Leung E, Wilcox W, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. In: Poster presented at the 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting. Vancouver, B.C., Canada, May 5, 2014. Abstract 752416.; Villa-Suarez JM, Garci'a-Fontana C, Andujar-Vera F, et al. Hypophosphatasia: A Unique Disorder of Bone Mineralization. Int J Mol Sci. 2021;22(9):4303. doi: https://doi.org/10.3390/ijms22094303; Christine Hofmann C, Girschick H, Mornet E, et al. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet. 2914;22(10):1160-1164. doi: https://doi.org/10.1038/ejhg.2014.10; Mornet E. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. 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Arch Pediatr. 2017;24(5S2):5S89-5S92. doi: https://doi.org/10.1016/S0929-693X(18)30022-8; Vogt M, Girschick H, Schweitzer T, et al. Pediatric hypophos-phatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis. 2020;15(1):212. doi: https://doi.org/10.1186/s13023-020-01500-x; Collmann H, Mornet E, Gattenlohner S, et al. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009;25(2):217-223. doi: https://doi.org/10.1007/s00381-008-0708-3; Graham BL, Steenbruggen I, Miller MR, et al. Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical Statement. Am J Respir Crit Care Med. 2019;200(8):e70-e88. doi: https://doi.org/10.1164/rccm.201908-1590ST; Beydon N, Davis SD, Lombardi E, et al. An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. Am J Respir Crit Care Med. 2007;175(12):1304-1345. doi: https://doi.org/10.1164/rccm.200605-642ST; Kamran A, Jennings RW. Tracheomalacia and Tracheobronchomalacia in Pediatrics: An Overview of Evaluation, Medical Management, and Surgical Treatment. Front Pediatr. 2019;7:512. doi: https://doi.org/10.3389/fped.2019.00512; Nunes ME. Hypophosphatasia. In: GeneReviews® [Internet]. Adam MP, Everman DB, Mirzaa GM, et al., eds. Seattle (WA): University of Washington, Seattle; 1993-2022.; Whyte MP, Rockman-Greenberg C, Ozono K, et al. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2016;101(1):334-342. doi: https://doi.org/10.1210/jc.2015-3462; Vislobokova E, Kiselnikova L, Voinova V, Sholokhova N. Dental findings in patients with hypophosphatasia. Scientific Abstracts of the 14th Congress of the European Academy of Paediatric Dentistry (EAPD) Palazzo dei Congressi, Lake Lugano, Switzerland 20th to 23rd June 2018. Eur Arch Paediatr Dent. 2019;20:152. doi: https://doi.org/10.1007/s40368-018-0390-4; Whyte MP, Greenberg CR, Salman NJ, et al. Enzymereplacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913. doi: https://doi.org/10.1056/NEJMoa1106173; Kitaoka T, Tajima T, Nagasaki K, et al. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. Clin Endocrinol (Oxf). 2017;87(1):10-19. doi: https://doi.org/10.1111/cen.13343; Yamamoto H, Sasamoto Y, Miyamoto Y, et al. A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. Pediatr Neurol. 2004;30(3):216-218. doi: https://doi.org/10.1016/j.pediatrneurol.2003.08.003; de Roo MGA, Abeling NGGM, Majoie CB, et al. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. Mol Genet Metab. 2014;111(3):404-407. doi: https://doi.org/10.1016/j.ymgme.2013.09.014; Belachew D, Kazmerski T, Libman I, et al. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. JIMD Rep. 2013;11:17-24. doi: https://doi.org/10.1007/8904_2013_217; Taketani T. Neurological Symptoms of Hypophosphatasia. Subcell Biochem. 2015;76:309-322. doi: https://doi.org/10.1007/978-94-017-7197-9_14; Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002;17(3):222-224. doi: https://doi.org/10.1177/088307380201700314; Girschick HJ, Schneider P, Haubitz I, et al. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis. 2006;1:24. doi: https://doi.org/10.1186/1750-1172-1-24; Bianchi ML, Bishop NJ, Guanabens N, et al. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int. 2020 31(8):1445-1460. doi: https://doi.org/10.1007/s00198-020-05345-9; Correa Marquez RR, Behari G. Hypophosphatasia (HPP) Treatment & Management. In: Medscape. Updated: Jun 05, 2023. Available online: https://emedicine.medscape.com/article/945375-treatment#d6. Accessed on July 15, 2023.; Miyashita S, Ochiai S, Sakamoto С, et al. VP13.10: Prenatal ultrasound findings in a survived case of perinatal lethal hypophosphatasia with enzyme replacement therapy started early in life. Ultrasound Obstet Gynecol. 2020;56(S1):104-104. doi: https://doi.org/10.1002/uog.22519; Yang Y, Liu Z, Wei L, et al. Prosthodontic Rehabilitation of a Patient with Hypophosphatasia Using Dental Implants: A Case Report with Seven Years Follow-Up. J Prosthodont. 2021;30(9):742-746. doi: https://doi.org/10.1111/jopr.13419; Tournis S, Yavropoulou MP, Polyzos SA, Doulgeraki A. Hypophosphatasia. J Clin Med. 2021;10(23):5676. doi: https://doi.org/10.3390/jcm10235676; Linglart A, Biosse-Duplan M. Hypophosphatasia. Curr Osteoporos Rep. 2016;14(3):95-105. doi: https://doi.org/10.1007/s11914-016-0309-0; Simon S, Resch H. Treatment of hypophosphatasia. Wien Med Wochenschr. 2020;170(5-6):112-115. doi: https://doi.org/10.1007/s10354-020-00736-3; Коняхина Г.П., Захарова Н.А. Лечебная физкультура для детей с ограниченными возможностями здоровья: учебно-методическое пособие. — Челябинск; 2019. — 81 с.; Медико-психологическая помощь детям с нарушением психического развития в системе комплексной реабилитации: методические рекомендации. — М.: ДЗМ; 2018. — № 83. — 28 с.; Leung EC, Mhanni AA, Reed M, et al. Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. JIMD Rep. 2013;11:73-78. doi: https://doi.org/10.1007/8904_2013_224; https://www.pedpharma.ru/jour/article/view/2343

الاتاحة: https://www.pedpharma.ru/jour/article/view/2343
https://doi.org/10.15690/pf.v20i4.2601

المؤلفون: Inga V. Anisimova, Marina B. Albegova, Madlena E. Bagaeva, Galina V. Baidakova, Aleksandr A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Anna V. Degtiareva, Marat V. Ezhov, Maria S. Zharkova, Nataliia V. Zhurkova, Ekaterina Yu. Zaharova, Vladimir T. Ivashkin, Elena A. Kamenets, Sergey I. Kutzev, Alla E. Lavrova, Irina A. Matinian, Svetlana V. Mikhailova, Leyla S. Namazova-Baranova, Irina E. Pashkova, Elena E. Petriaykina, Tatiana M. Pervunina, Nataliia L. Pechatnikova, Nelia S. Pogosian, Svetlana A. Repina, Lilia R. Selimzianova, Tamara A. Skvortsova, Tatiana V. Strokova, Dmitriy M. Subbotin, Andrey N. Surkov, Elena L. Tumanova, Ekaterina G. Tzimbalova, И. В. Анисимова, М. Б. Албегова, М. Э. Багаева, Г. В. Байдакова, А. А. Баранов, Н. Д. Вашакмадзе, Е. А. Вишнева, О. С. Гундобина, А. В. Дегтярева, М. В. Ежов, М. С. Жаркова, Н. В. Журкова, Е. Ю. Захарова, В. Т. Ивашкин, Е. А. Каменец, С. И. Куцев, А. Е. Лаврова, И. А. Матинян, С. В. Михайлова, Л. С. Намазова-Баранова, И. Е. Пашкова, Е. Е. Петряйкина, Т. М. Первунина, Н. Л. Печатникова, Н. С. Погосян, С. А. Репина, Л. Р. Селимзянова, Т. А. Скворцова, Т. В. Строкова, Д. М. Субботин, А. Н. Сурков, Е. Л. Туманова, Е. Г. Цимбалова

المساهمون: Not specified., Отсутствует.

المصدر: Pediatric pharmacology; Том 20, № 4 (2023); 337-354 ; Педиатрическая фармакология; Том 20, № 4 (2023); 337-354 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, Wolman disease, cholesterol ester storage disease, diagnostics, management, enzyme replacement therapy, children, болезнь Вольмана, болезнь накопления эфиров холестерина, диагностика, лечение, ферментозаместительная терапия

وصف الملف: application/pdf

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2342
https://doi.org/10.15690/pf.v20i4.2602

المؤلفون: G. B. Sagoyan, N. V. Zhukov, V. V. Strelnikov, R. A. Khagurov, A. M. Suleymanova, Yu. M. Mareeva, R. V. Garbuzov, E. N. Imyanitov, Yu. V. Dinikina, S. I. Kutsev, E. K. Donyush, K. I. Kirgizov, N. A. Semenova, Yu. A. Polyaev, I. S. Kletskaya, A. A. Maschan, S. R. Varfolomeeva, Г. Б. Сагоян, Н. В. Жуков, В. В. Стрельников, Р. А. Хагуров, А. М. Сулейманова, Ю. М. Мареева, Р. В. Гарбузов, Е. Н. Имянитов, Ю. В. Диникина, С. И. Куцев, Е. К. Донюш, К. И. Киргизов, Н. А. Семенова, Ю. А. Поляев, И. С. Клецкая, А. А. Масчан, С. Р. Варфоломеева

المصدر: Russian Journal of Pediatric Hematology and Oncology; Том 10, № 2 (2023); 117-130 ; Российский журнал детской гематологии и онкологии (РЖДГиО); Том 10, № 2 (2023); 117-130 ; 2413-5496 ; 2311-1267

مصطلحات موضوعية: сиролимус, PIK3CA mutation, overgrowth spectrum, CLOVES, CLAPO, Klippel–Trenaunay syndrome, macrodactyly, lipomatosis, vascular malformations, epidermal nevus, alpelisib, sirolimus, мутация PIK3CA, спектр синдромов избыточного роста, синдром Клиппеля– Треноне, макродактилия, липоматоз, сосудистые мальформации, эпидермальный невус, алпелисиб

وصف الملف: application/pdf

Relation: https://journal.nodgo.org/jour/article/view/944/831; https://journal.nodgo.org/jour/article/view/944/832; Сагоян Г.Б., Клецкая И.С., Имянитов Е.Н., Мареева Ю.М., Жуков Н.В., Хагуров Р.А., Сулейманова А.М. Спектр синдромов избыточного роста, связанных с мутацией PIK3CA. Обзор литературы. Российскийжурнал детской гематологии и онкологии. 2022;9(1):29–44. doi:10.21682/2311-1267-2022-9-1-29-44.; Canaud G., Hammill A.M., Adams D., Vikkula M., Keppler-Noreuil K.M. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. Orphanet J Rare Dis. 2021;16(1):306. doi:10.1186/s13023-021-01929-8.; Nunnery S.E., Mayer I.A. Targeting the PI3K/AKT/mTOR Pathway in Hormone-Positive Breast Cancer Drugs. 2020;80:1685–97. doi:10.1007/s40265-020-01394-w.; Madsen R.R., Vanhaesebroeck B., Semple R.K. Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends Mol Med. 2018;24(10):856–70. doi:10.1016/j.molmed.2018.08.003.; Douzgou S., Rawson M., Baselga E., Danielpour M., Faivre L., Kashanian A., Keppler-Noreuil K.M., Kuentz P., Mancini G.M.S., Maniere M.C., Martinez-Glez V., Parker V.E., Semple R.K., Srivastava S., Vabres P., De Wit M.Y., Graham J.M. Jr, Clayton-Smith J., Mirzaa G.M., Biesecker L.G. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement. Clin Genet. 2022;101(1):32–47. doi:10.1111/cge.14027.; Mirzaa G., Graham J.M. Jr, Keppler-Noreuil K.M. PIK3CA-Related Overgrowth Spectrum. In: Adam M.P., Everman D.B., Mirzaa G.M., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.; Keppler-Noreuil K.M., Rios J.J., Parker V.E., Semple R.K., Lindhurst M.J., Sapp J.C., Alomari A., Ezaki M., Dobyns W., Biesecker L.G. PIK3CArelated overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, diff erential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287–95. doi:10.1002/ajmg.a.36836.; Canaud G., López Gutiérrez J.C., Irvine A., Ankrah N., Ridolfi A., Adams D.M. LBA23 EPIK-P1: Retrospective chart review study of patients (pts) with PIK3CA-related Overgrowth Spectrum (PROS) who have received alpelisib (ALP) as part of a compassionate use programme. Dev Ther. 2021;32(Suppl 5):S1297. doi:10.1016/j.annonc.2021.08.2097.; Garreta Fontelles G., Pardo Pastor J., Grande Moreillo C. Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum. Br J Clin Pharmacol. 2022;88(8):3891–5. doi:10.1111/bcp.15270.; Morin G., Degrugillier-Chopinet C., Vincent M., Fraissenon A., Aubert H., Chapelle C., Hoguin C., Dubos F., Catteau B., Petit F., Mezel A., Domanski O., Herbreteau G., Alesandrini M., Boddaert N., Boutry N., Broissand C., Kevin Han T., Branle F., Sarnacki S., Blanc1 T., Guibaud L., Canaud G. Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib. J Exp Med. 2022;219(3):e20212148. doi:10.1084/jem.20212148.; Madsen R.R., Semple R.K. PIK3CA-related overgrowth: silver bullets from the cancer arsenal? Trends Mol Med. 2022;28(4):255–7. doi:10.1016/j.molmed.2022.02.009.; Parker V.E.R., Keppler-Noreuil K.M., Faivre L., Luu M., Oden N.L., De Silva L., Sapp J.C., Andrews K., Bardou M., Chen K.Y., Darling T.N., Gautier E., Goldspiel B.R., Hadj-Rabia S., Harris J., Kounidas G., Kumar P., Lindhurst M.J., Loff roy R., Martin L., Phan A., Rother K.I., Widemann B.C., Wolters P.L., Coubes C., Pinson L., Willems M., Vincent-Delorme C.; PROMISE Working Group; Vabres P., Semple R.K., Biesecker L.G. Safety and efficacy of low-dose sirolimus in the PIK3CArelated overgrowth spectrum. Genet Med. 2019;21(5):1189–98. doi:10.1038/s41436-018-0297-9.; https://journal.nodgo.org/jour/article/view/944

الاتاحة: https://journal.nodgo.org/jour/article/view/944
https://doi.org/10.21682/2311-1267-2023-10-2-117-123

المؤلفون: I. A. Komarov, A. R. Malakhova, T. P. Vasilyeva, E. Yu. Shukan, O. Yu. Aleksandrova, R. A. Zinchenko, A. V. Polyakov, S. S. Nikitin, E. Yu. Sapego, S. I. Kutsev, И. А. Комаров, А. Р. Малахова, Т. П. Васильева, Е. Ю. Шукан, О. Ю. Александрова, Р. А. Зинченко, А. В. Поляков, С. С. Никитин, Е. Ю. Сапего, С. И. Куцев

المساهمون: The research was conducted within the framework of the state assignment of the Ministry of Education and Science of Russia., Исследование выполнено в рамках государственного задания Минобрнауки России.

المصدر: Neuromuscular Diseases; Том 13, № 3 (2023); 25-32 ; Нервно-мышечные болезни; Том 13, № 3 (2023); 25-32 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-3

مصطلحات موضوعية: бюджет, newborn screening, cost analysis, rare diseases, orphan drugs, drug coverage, health care, funding, budget, скрининг новорожденных, анализ затрат, редкие болезни, орфанные лекарственные препараты, лекарственное обеспечение, здравоохранение, финансирование

وصف الملف: application/pdf

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الاتاحة: https://nmb.abvpress.ru/jour/article/view/556
https://doi.org/10.17650/2222-8721-2023-13-3-25-32

المؤلفون: V. V. Kadyshev, E. K. Ginter, S. I. Kutsev, M. O. Kirillova, R. A. Zinchenko, В. В. Кадышев, Е. К. Гинтер, С. И. Куцев, М. О. Кириллова, Р. А. Зинченко

المساهمون: The work was supported by the state task of the Ministry of Science and Higher Education for Research Centre for Medical Genetics., Государственное задание Министерства науки и высшего образования для ФГБНУ МГНЦ.

المصدر: Medical Genetics; Том 22, № 6 (2023); 12-23 ; Медицинская генетика; Том 22, № 6 (2023); 12-23 ; 2073-7998

مصطلحات موضوعية: проведенное исследование указывает на наличие вариабельности груза НПОЗ между популяциями и этническими группами европейской части РФ, ophthalmology, ophthalmogenetics, the burden of hereditary ophthalmopathology, syndromic ophthalmopathology, isolated ophthalmopathology, epidemiology

وصف الملف: application/pdf

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الاتاحة: https://www.medgen-journal.ru/jour/article/view/2317
https://doi.org/10.25557/2073-7998.2023.06.12-23

المؤلفون: B. D. Chaltsev, A. V. Torgashina, A. M. Lila, T. V. Markova, S. I. Kutsev, O. P. Ryzhkova, A. A. Orlova, A. V. Kokhno, T. I. Solovyova, V. N. Dvirnyk, A. M. Kovrigina, T. N. Obukhova, E. N. Parovichnikova, E. L. Nasonov, Б. Д. Чальцев, А. В. Торгашина, А. М. Лила, Т. В. Маркова, С. И. Куцев, О. П. Рыжкова, А. А. Орлова, А. В. Кохно, Т. И. Соловьева, В. Н. Двирнык, А. М. Ковригина, Т. Н. Обухова, Е. Н. Паровичникова, Е. Л. Насонов

المصدر: Modern Rheumatology Journal; Том 17, № 6 (2023); 92-101 ; Современная ревматология; Том 17, № 6 (2023); 92-101 ; 2310-158X ; 1996-7012

مصطلحات موضوعية: миелодиспластический синдром, macrocytic anemia, vasculitis, relapsing polychondritis, neutrophilic dermatosis, vacuolization of bone marrow cells, myelodysplastic syndrome, макроцитарная анемия, васкулит, рецидивирующий полихондрит, нейтрофильный дерматоз, вакуолизация клеток костного мозга

وصف الملف: application/pdf

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الاتاحة: https://mrj.ima-press.net/mrj/article/view/1509
https://doi.org/10.14412/1996-7012-2023-6-92-101

المؤلفون: E. I. Kondratyeva, S. N. Avdeev, Yu. L. Mizernitskiy, A. V. Polyakov, M. Yu. Chernukha, O. V. Kondratenko, L. S. Namazova-Baranova, E. A. Vishneva, L. R. Selimzyanova, O. I. Simonova, T. E. Gembitskaya, E. E. Bragina, S. A. Rachina, A. B. Malakhov, D. P. Polyakov, N. D. Odinaeva, S. I. Kutsev, Е. И. Кондратьева, С. Н. Авдеев, Ю. Л. Мизерницкий, А. В. Поляков, М. Ю. Чернуха, О. В. Кондратенко, Л. С. Намазова-Баранова, Е. А. Вишнева, Л. Р. Селимзянова, О. И. Симонова, Т. Е. Гембицкая, Е. Е. Брагина, С. А. Рачина, А. Б. Малахов, Д. П. Поляков, Н. Д. Одинаева, С. И. Куцев

المصدر: PULMONOLOGIYA; Том 32, № 4 (2022); 517-538 ; Пульмонология; Том 32, № 4 (2022); 517-538 ; 2541-9617 ; 0869-0189

مصطلحات موضوعية: муколитическая и антибактериальная терапия, ciliopathy, molecular diagnostics, epithelial cilia, electron microscopy, microbiology, mucolytic and antibacterial therapy, цилиопатия, молекулярная диагностика, реснички эпителия, электронная микроскопия, микробиология

وصف الملف: application/pdf

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الاتاحة: https://journal.pulmonology.ru/pulm/article/view/4131
https://doi.org/10.18093/0869-0189-2022-32-4-517-538

المؤلفون: Khadizha M. Emirova, Tatiana Yu. Abaseeva, Alexander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Galina A. Generalova, Ekaterina Yu. Zakharova, Tatiana A. Kaluzhnaya, Sergey I. Kutsev, Leyla S. Namazova-Baranova, Tamara P. Makarova, Tea V. Margieva, Sofya A. Mstislavskaya, Aleksandr L. Muzurov, Tatiana E. Pankratenko, Marina M. Shilova, Marina V. Fedoseenko, Х. М. Эмирова, Т. Ю. Абасеева, А. А. Баранов, Н. Д. Вашакмадзе, Е. А. Вишнева, Г. А. Генералова, Е. Ю. Захарова, Т. А. Калюжная, С. И. Куцев, Л. С. Намазова-Баранова, Т. П. Макарова, Т. В. Маргиева, С. А. Мстиславская, А. Л. Музуров, Т. Е. Панкратенко, М. М. Шилова, М. В. Федосеенко

المصدر: Pediatric pharmacology; Том 19, № 2 (2022); 127-152 ; Педиатрическая фармакология; Том 19, № 2 (2022); 127-152 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, atypical hemolytic uremic syndrome, chronic kidney disease, children, атипичный гемолитико-уремический синдром, хроническая болезнь почек

وصف الملف: application/pdf

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2147
https://doi.org/10.15690/pf.v19i2.2400

المؤلفون: Galina V. Baidakova, Alexander A. Baranov, Irina V. Vakhlova, Nato D. Vashakmadze, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Sergey I. Kutsev, Valentina I. Larionova, Tina V. Lobzhanidze, Ludmila K. Mikhailova, Svetlana V. Mikhailova, Sergey V. Moiseev, Leyla S. Namazova-Baranova, Sergey S. Nikitin, Natalya L. Pechatnikova, Olga A. Polyakova, Alla N. Semyachkina, Olga V. Udalova, Г. В. Байдакова, А. А. Баранов, И. В. Вахлова, Н. Д. Вашакмадзе, Е. Ю. Воскобоева, Е. Ю. Захарова, Л. М. Кузенкова, С. И. Куцев, В. И. Ларионова, Т. В. Лобжанидзе, Л. К. Михайлова, С. В. Михайлова, С. В. Моисеев, Л. С. Намазова-Баранова, С. С. Никитин, Н. Л. Печатникова, О. А. Полякова, А. Н. Семячкина, О. В. Удалова

المصدر: Pediatric pharmacology; Том 19, № 4 (2022); 342-353 ; Педиатрическая фармакология; Том 19, № 4 (2022); 342-353 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, diagnosis, treatment, prognosis, children, диагностика, лечение, прогноз

وصف الملف: application/pdf

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2192
https://doi.org/10.15690/pf.v19i4.2443

المؤلفون: Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Sergey N. Avdeev, Elena V. Polevichenko, Andrey S. Belevskiy, Elena I. Kondratyeva, Olga I. Simonova, Nataliya Yu. Kashirskaya, Victoria D. Sherman, Anna Yu. Voronkova, Evgeniya L. Amelina, Tatyana E. Gembitskaya, Stanislav A. Krasovskiy, Alexey G. Chermenskiy, Tatyana A. Stepanenko, Liliia R. Selimzyanova, Elena A. Vishneva, Yulia V. Gorinova, Elena A. Roslavtseva, Irina K. Asherova, Natalya A. Ilyenkova, Sergey K. Zyryanov, Niso D. Odinayeva, Tatyana Yu. Maksimycheva, Alexander V. Orlov, Sergey Yu. Semykin, Marina Yu. Chernukha, Igor A. Shaginyan, Lusine R. Avetisyan, Galina L. Shumkova, Natalya A. Krylova, Ivan A. Dronov, Maria N. Kostyleva, Ludmila A. Zhelenina, Nikolay N. Klimko, Yuliya V. Borzova, Natalya V. Vasilyeva, Tatyana S. Bogomolova, Anna A. Speranskaya, Irina A. Baranova, Evgeny G. Furman, Vera V. Shadrina, Nikolay F. Shchapov, Nika V. Petrova, Ivan V. Pashkov, Olga M. Tsirulnikova, Dmitriy P. Polyakov, Valeriy M. Svistushkin, Eduard V. Sin'kov, Vyacheslav B. Chernykh, Svetlana A. Repina, Dmitriy A. Blagovidov, Mikhail P. Kostinov, Olga V. Kondratenko, Artem V. Lyamin, Svetlana V. Polikarpova, Alexander V. Polyakov, Tagui A. Adyan, Dmitry V. Goldshtein, Tatiana B. Bukharova, Anna S. Efremova, Elena S. Ovsyankina, Ludmila V. Panova, Irina V. Cherkashina, А. А. Баранов, Л. С. Намазова-Баранова, С. И. Куцев, С. Н. Авдеев, Е. В. Полевиченко, А. С. Белевский, Е. И. Кондратьева, О. И. Симонова, Н. Ю. Каширская, В. Д. Шерман, А. Ю. Воронкова, Е. Л. Амелина, Т. Е. Гембицкая, С. А. Красовский, А. Г. Черменский, Т. А. Степаненко, Л. Р. Селимзянова, Е. А. Вишнева, Ю. В. Горинова, Е. А. Рославцева, И. К. Ашерова, Н. А. Ильенкова, С. К. Зырянов, Н. Д. Одинаева, Т. Ю. Максимычева, А. В. Орлов, С. Ю. Семыкин, М. Ю. Чернуха, И. А. Шагинян, Л. Р. Аветисян, Г. Л. Шумкова, Н. А. Крылова, И. А. Дронов, М. Н. Костылева, Л. А. Желенина, Н. Н. Климко, Ю. В. Борзова, Н. В. Васильева, Т. С. Богомолова, А. А. Сперанская, И. А. Баранова, Е. Г. Фурман, В. В. Шадрина, Н. Ф. Щапов, Н. В. Петрова, И. В. Пашков, О. М. Цирульникова, Д. П. Поляков, В. М. Свистушкин, Э. В. Синьков, В. Б. Черных, С. А. Репина, Д. А. Благовидов, М. П. Костинов, О. В. Кондратенко, А. В. Лямин, С. В. Поликарпова, А. В. Поляков, Т. А. Адян, Д. В. Гольдштейн, Т. Б. Бухарова, А. С. Ефремова, Е. С. Овсянкина, Л. В. Панова, И. В. Черкашина

المصدر: Pediatric pharmacology; Том 19, № 2 (2022); 153-195 ; Педиатрическая фармакология; Том 19, № 2 (2022); 153-195 ; 2500-3089 ; 1727-5776

مصطلحات موضوعية: дети, diagnosis, treatment, kinesitherapy, enzyme replacement therapy, children, диагностика, лечение, кинезитерапия, ферментозаместительная терапия

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الاتاحة: https://www.pedpharma.ru/jour/article/view/2169
https://doi.org/10.15690/pf.v19i2.2417

المؤلفون: N. V. Petrova, I. S. Tebieva, Z. K. Getoeva, N. V. Balinova, A. V. Marakhonov, T. A. Vasilyeva, E. K. Ginter, S. I. Kutsev, R. A. Zinchenko, Н. В. Петрова, И. С. Тебиева, З. К. Гетоева, Н. В. Балинова, А. В. Марахонов, Т. А. Васильева, Е. К. Гинтер, С. И. Куцев, Р. А. Зинченко

المصدر: Medical Genetics; Том 21, № 2 (2022); 44-50 ; Медицинская генетика; Том 21, № 2 (2022); 44-50 ; 2073-7998

مصطلحات موضوعية: Северная Осетия-Алания, nonsyndromic sensorineural hearing loss, GJB2 gene, mutations, ethnic and age characteristics, North Ossetia, несиндромальная нейросенсорная тугоухость, ген GJB2, мутации, этнические и возрастные особенности

وصف الملف: application/pdf

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الاتاحة: https://www.medgen-journal.ru/jour/article/view/2045
https://doi.org/10.25557/2073-7998.2022.02.44-50