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    Academic Journal

    Contributors: We express our gratitude to the head physician of the Morozov Children’s City Clinical Hospital Ph.D. of Medical Sciences Valleriy. V. Gorev, the attending physician Nina A. Krasnoshchekova and specialists who provided assistance and support during the patient’s treatment., Выражаем признательность главному врачу МДГКБ ДЗМ к.м.н. В.В. Гореву, лечащему врачу Н.А. Краснощековой, а также всем специалистам, оказавшим помощь и поддержку в период лечения пациента.

    Source: Pediatric pharmacology; Том 22, № 1 (2025); 31–41 ; Педиатрическая фармакология; Том 22, № 1 (2025); 31–41 ; 2500-3089 ; 1727-5776

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    Relation: https://www.pedpharma.ru/jour/article/view/2576/1672; Kamenický P, Briot K, Munns CF, Linglart A. X-linked hypophosphataemia. Lancet. 2024;404(10455):887–901. doi: https://doi.org/10.1016/S0140-6736(24)01305-9; Куликова К.С. Наследственные формы рахита: пособие для врачей. — М.; 2016. — С. 9–11 Доступно по: https://rickets.ru/sites/rickets/files/downloads/for-specialists--handbook.pdf. Ссылка активна на 03.02.2025.; Мальцев С.В., Сафина А.И., Михайлова Т.В. Гипофосфатемический рахит у детей — клинические и генетические аспекты, подходы к терапии // Практическая медицина. — 2021. — Т. 19. — № 1. — С. 38–49. — doi: https://doi.org/10.32000/2072-1757-2021-1-38-49; Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Evidence-based guideline. Nat Rev Nephrol. 2019;15(7):435–455. doi: https://doi.org/10.1038/s41581-019-0152-5; Romagnoli C, Iantomasi T, Brandi ML. Impact of X-Linked Hypophosphatemia on Muscle Symptoms. Genes (Basel). 2022;13(12):2415. doi: https://doi.org/10.3390/genes13122415; Linglart A, Imel EA, Whyte MP, et al. Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia. J Clin Endocrinol Metab. 2022;107(3):813–824. doi: https://doi.org/10.1210/clinem/dgab729; Laurent MR, Harvengt P, Mortier GR, Böckenhauer D. X-Linked Hypophosphatemia.In: GeneReviews [Internet]. Adam MP, Feldman J, Mirzaa GM, et al., eds. Seattle (WA): University of Washington, Seattle; 2023. Available online: https://pubmed.ncbi.nlm.nih.gov/22319799. Accessed on February 03, 2025.; Dahir K, Roberts MS, Krolczyk S, Simmons JH. X-Linked Hypophosphatemia: A New Era in Management. J Endocr Soc. 2020;4(12):bvaa151. doi: https://doi.org/10.1210/jendso/bvaa151; Imel EA. Burosumab for Pediatric X-Linked Hypophosphatemia. Curr Osteoporos Rep. 2021;19(3):271–277. doi: https://doi.org/10.1007/s11914-021-00669-9; Куликова К.С., Тюльпаков А.Н. Гипофосфатемический рахит: патогенез, диагностика и лечение // Ожирение и метаболизм. — 2018. — Т. 15. — № 2. — С. 46–50. — doi: https://doi.org/10.14341/omet9672; Недостаточность витамина D. Рахит: клинические рекомендации / Союз педиатров России; Российская ассоциация эндокринологов; Ассоциация медицинских генетиков; Национальная ассоциация детских реабилитологов. — 2024. — 64 с.; Детская нефрология: учебник / под ред. П.В. Шумилова, Э.К. Петросян, О.Л. Чугуновой . — М.: МЕДпресс-информ; 2018. — С. 403–407.; Imel EA, Glorieux FH, Whyte MP, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: A randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019;393(10189):2416–2427. doi: https://doi.org/10.1016/S0140-6736(19)30654-3; Mäkitie O, Doria A, Kooh SW, et al. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2003;88(8):3591–3597. doi: https://doi.org/10.1210/jc.2003-030036; Abdullah A, Wuersching SN, Kollmuss M, et al. X-Linked Hypophosphatemia: Does Targeted Therapy Modify Dental Impairment? J Clin Med. 2023;12(24):7546. doi: https://doi.org/10.3390/jcm12247546; Ward LM, Glorieux FH, Whyte MP, et al. Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia. J Clin Endocrinol Metab. 2022;107(8):e3241–e3253. doi: https://doi.org/10.1210/clinem/dgac296; https://www.pedpharma.ru/jour/article/view/2576

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    Academic Journal

    Contributors: Исследование выполнено в рамках фундаментальной научной темы «Разработка междисциплинарной персонализированной модели оказания помощи пациентам с аутовоспалительными дегенеративными заболеваниями (остеоартрит, остеопороз, саркопения, подагра, пирофосфатная артропатия) и мультиморбидностью (ожирение, сердечно-сосудистые заболевания)» , регистрационный номер 1021051403074-2.

    Source: Rheumatology Science and Practice; Vol 62, No 5 (2024); 529-534 ; Научно-практическая ревматология; Vol 62, No 5 (2024); 529-534 ; 1995-4492 ; 1995-4484

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    Relation: https://rsp.mediar-press.net/rsp/article/view/3639/2407; Rosenberg I. Summary comments. Am J Clin Nutr. 1989;50:1231-1233. doi:10.1093/ajcn/50.5.1231; Biomarkers Definitions Working Group. Biomarkers and surrogate endpoints: Preferred definitions and conceptual frame-work. Clin Pharmacol Ther. 2001;69:89-95. doi:10.1067/mcp.2001.113989; Ladang A, Beaudart C, Reginster JY, Al-Daghri N, Bruyère O, Burlet N, et al. Biochemical markers of musculoskeletal health and aging to be assessed in clinical trials of drugs aiming at the treatment of sarcopenia: Consensus paper from an Expert Group Meeting organized by the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) and the Centre Académique de Recherche et d’Expérimentation en Santé (CARES SPRL), under the Auspices of the World Health Organization Collaborating Center for the Epidemiology of Musculoskeletal Conditions and Aging. Calcif Tissue Int. 2023;112:197-217. doi:10.1007/s00223-022-01054-z; Ko DS, Kim YH, Goh TS, Lee JS. Altered physiology of mesenchymal stem cells in the pathogenesis of adolescent idiopathic scoliosis. World J Clin Cases. 2020;8(11):2102-2110. doi:10.12998/wjcc.v8.i11.2102; Baker JF, England BR, George MD, Wysham K, Johnson T, Kunkel G, et al. Elevations in adipocytokines and mortality in rheumatoid arthritis. Rheumatology (Oxford). 2022;61(12):4924-4934. doi:10.1093/rheumatology/keac191; Ngeuleu A, Allali F, Medrare L, Madhi A, Rkain H, Hajjaj-Hassouni N. Sarcopenia in rheumatoid arthritis: Prevalence, influence of disease activity and associated factors. Rheumatol Int. 2017;37(6):1015-1020. doi:10.1007/s00296-017-3665-x; Müller R, Kull M, Põlluste K, Valner A, Lember M, Kallikorm R. Factors associated with low lean mass in early rheumatoid arthritis: A cross-sectional study. Medicina (Kaunas). 2019;55(11):730. doi:10.3390/medicina55110730; Dietzel R, Wiegmann S, Borucki D, Detzer C, Zeiner KN, Schaumburg D, et al. Prevalence of sarcopenia in patients with rheumatoid arthritis using the revised EWGSOP2 and the FNIH definition. RMD Open. 2022;8(2):e002600. doi:10.1136/rmdopen-2022-002600; Navarro-Ibarra MJ, Saucedo-Tamayo MDS, Alemán-Mateo H, Parra-Sánchez H, Othón-Ontiveros P, Hernández J, et al. Association between interleukin 6 and C-reactive protein serum levels and body composition compartments and components in breast cancer survivors. Biol Res Nurs. 2024;26(2):231-239. doi:10.1177/10998004231207022; Wu X, Li X, Xu M, Zhang Z, He L, Li Y. Sarcopenia prevalence and associated factors among older Chinese population: Findings from the China Health and Retirement Longitudinal Study. PLoS One. 2021;16(3):e0247617. doi:10.1371/journal.pone.0247617; Morawin B, Tylutka A, Bielewicz F, Zembron-Lacny A. Diagnostics of inflammaging in relation to sarcopenia. Front Public Health. 2023;11:1162385. doi:10.3389/fpubh.2023.1162385; Сафонова ЮА. Серологические маркеры саркопении у людей в возрасте 65 лет и старше. Клиницист. 2023;17(4): 19-26.; Lee SJ, Lee YS, Zimmers TA, Soleimani A, Matzuk MM, Tsuchida K, et al. Regulation of muscle mass by follistatin and activins. Mol Endocrinol. 2010;24(10):1998-2008. doi:10.1210/me.2010-0127; Bergen HR 3rd, Farr JN, Vanderboom PM, Atkinson EJ, White TA, Singh RJ, et al. Myostatin as a mediator of sarcopenia versus homeostatic regulator of muscle mass: Insights using a new mass spectrometry-based assay. Skelet Muscle. 2015;5:21. doi:10.1186/s13395-015-0047-5; Maïmoun L, Mura T, Attalin V, Dupuy AM, Cristol JP, Avignon A, et al. Modification of muscle-related hormones in women with obesity: Potential impact on bone metabolism. J Clin Med. 2020;9(4):1150. doi:10.3390/jcm9041150; White TA, LeBrasseur NK. Myostatin and sarcopenia: Opportunities and challenges – A mini-review. Gerontology. 2014;60(4):289-293. doi:10.1159/000356740; Nakashima M, Toyono T, Akamine A, Joyner A. Expression of growth/differentiation factor 11, a new member of the BMP/TGFbeta superfamily during mouse embryogenesis. Mech Dev. 1999;80(2):185-189. doi:10.1016/s0925-4773(98)00205-6; Baker JF, Von Feldt JM, Mostoufi-Moab S, Kim W, Taratuta E, Leonard MB. Insulin-like growth factor 1 and adiponectin and associations with muscle deficits, disease characteristics, and treatments in rheumatoid arthritis. J Rheumatol. 2015;42(11):2038-2045. doi:10.3899/jrheum.150280; Jiang JJ, Chen SM, Chen J, Wu L, Ye JT, Zhang Q. Serum IGF-1 levels are associated with sarcopenia in elderly men but not in elderly women. Aging Clin Exp Res. 2022;34(10):2465-2471. doi:10.1007/s40520-022-02180-2; Chen HT, Chung YC, Chen YJ, Ho SY, Wu HJ. Effects of different types of exercise on body composition, muscle strength, and IGF-1 in the elderly with sarcopenic obesity. J Am Geriatr Soc. 2017;65(4):827-832. doi:10.1111/jgs.14722; Tabara Y, Okada Y, Ochi M, Ohyagi Y, Igase M. Associations between adiponectin and leptin levels and skeletal muscle mass and myosteatosis in older adults: The Shimanami Health Promoting Program Study. Geriatr Gerontol Int. 2023;(23):444-449. doi:10.1111/ggi.14582; Memelink RG, Njemini R, de Bos Kuil MJJ, Wopereis S, de Vogel-van den Bosch J, Schoufour JD, et al. The effect of a combined lifestyle intervention with and without protein drink on inflammation in older adults with obesity and type 2 diabetes. Exp Gerontol. 2024;(190):112410. doi:10.1016/j.exger.2024.112410; Teixeira LAC, Dos Santos JM, Parentoni AN, Lima LP, Duarte TC, Brant FP, et al. Adiponectin is a contributing factor of low appendicular lean mass in older community-dwelling women: A cross-sectional study. J Clin Med. 2022;11(23):7175. doi:10.3390/jcm11237175; Baker JF, Katz P, Weber DR, Gould P, George MD, Long J, et al. Adipocytokines and associations with abnormal body composition in rheumatoid arthritis. Arthritis Care Res (Hoboken). 2023;75(3):616-624. doi:10.1002/acr.24790; Si Y, Kazamel M, Benatar M, Wuu J, Kwon Y, Kwan T, et al. FGF23, a novel muscle biomarker detected in the early stages of ALS. Sci Rep. 2021;11(1):12062. doi:10.1038/s41598-021-91496-6; Fukasawa H, Ishigaki S, Kinoshita-Katahashi N, Niwa H, Yasuda H, Kumagai H, et al. Plasma levels of fibroblast growth factor-23 are associated with muscle mass in haemodialysis patients. Nephrology (Carlton). 2014;19(12):784-790. doi:10.1111/nep.12333; Avin KG, Vallejo JA, Chen NX, Wang K, Touchberry CD, Brotto M, et al. Fibroblast growth factor 23 does not directly influence skeletal muscle cell proliferation and differentiation or ex vivo muscle contractility. Am J Physiol Endocrinol Metab. 2018;315(4): E594-E604. doi:10.1152/ajpendo.00343.2017

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    Academic Journal

    Source: Medical Genetics; Том 22, № 6 (2023); 51-61 ; Медицинская генетика; Том 22, № 6 (2023); 51-61 ; 2073-7998

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    Relation: https://www.medgen-journal.ru/jour/article/view/2321/1722; Aschinberg L.C., Solomon L.M., Zeis P.M., Justice P., Rosenthal I.M. Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr. 1977;91(1):56–60.; Avitan-Hersh E., Tatur S., Indelman M. et al. Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23. J Clin Endocrinol Metab. 2014;99 (1):E132-6. doi:10.1210/jc.2013-2813.; Ovejero D., Lim Y.H., Boyce A.M. et al. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. Osteoporos Int. 2016;27(12):3615-3626. doi:10.1007/s00198-016-3702-8.; de Castro L.F., Ovejero D., Boyce A.M. Diagnosis of endocrine disease: mosaic disorders of FGF23 excess: fibrous dysplasia/Mc-Cune-albright syndrome and cutaneous skeletal hypophosphatemia syndrome. Eur. J. Endocrinol. 2020; 182 (5):R83-R99; Huynh C., Gillis A., Fazendin J., Abdullatif H. A case report to assess the safety and efficacy of Burosumab, an investigational antibody to FGF23, in a single pediatric patient with Epidermal Nevus Syndrome and associated hypophosphatemic rickets. Bone Rep. 2022;17:101605. doi:10.1016/j.bonr.2022.101605.; Khadora M., Mughal M.Z. Burosumab treatment in a child with cutaneous skeletal hypophosphatemia syndrome: A case report. Bone Rep. 2021;15:101138. doi:10.1016/j.bonr.2021.101138.; Merz L.M., Buerger F., Ziegelasch N. et al. A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome. Front Endocrinol (Lausanne). 2022;13:866831. doi:10.3389/fendo.2022.866831.; Sugarman J., Maruri A., Hamilton D.J. et al. The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome. Bone. 2023;166: 116598, https://doi.org/10.1016/j.bone.2022.116598.; 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):405-24. doi:10.1038/gim.2015.30.; Рыжкова О. П., Кардымон О. Л., Прохорчук Е. Б., и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика, 2019; 18(2):3-23; Rauen K.A. The RASopathies. Annual review of genomics and human genetics. 2013;14:355–69. doi:10.1146/annurevgenom-091212-153523.; Куликова К.С., Тюльпаков А.Н. Гипофосфатемический рахит: патогенез, диагностика и лечение. Ожирение и метаболизм. 2018;15(2):46-50.; Lim Y.H., Ovejero D., Sugarman J.S., et al. Multilineage Somatic Activating Mutations in HRAS and NRAS Cause Mosaic Cutaneous and Skeletal Lesions, Elevated FGF23 and Hypophosphatemia. Hum Mol Genet. 2014; 23(2):397–407. doi:10.1093/hmg/ddt429; Shimada T., Urakawa I., Yamazaki Y., et al. FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. Biochem. Biophys. Res. Commun. 2004;314:409–414.; Shimada T., Hasegawa H., Yamazaki Y., et al. FGF-23 Is a Potent Regulator of Vitamin D Metabolism and Phosphate Homeostasis. J Bone Miner Res. 2004;19: 429-435. https://doi.org/10.1359/JBMR.0301264; Lim Y.H., Ovejero D., Derrick K.M.; Yale Center for Mendelian Genomics; Collins M.T., Choate K.A. Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy. J Am Acad Dermatol. 2016;75(2):420-7. doi:10.1016/j.jaad.2015.11.012.; Carpenter T.O., Whyte M.P., Imel E.A., Boot A.M., Högler W., Linglart A., et al. Burosumab Therapy in Children With X-Linked Hypophosphatemia. N Engl J Med. 2018; 378(21):1987–98. doi:10.1056/nejmoa1714641.; Carli D., Cardaropoli S., Tessaris D., et al. Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome. Genes Chromosomes Cancer. 2022; 61(12):740-746. doi:10.1002/gcc.23092.; Ершов Н.М., Пшонкин А.В., Мареева Ю.М., и др. Первый опыт применения MEK-ингибиторов при нейрофиброматозе I типа у детей в Российской Федерации в условиях стационара кратковременного лечения национального медицинского исследовательского центра. Российский журнал детской гематологии и онкологии (РЖДГиО). 2021;8(1):85-92. https://doi.org/10.21682/2311-1267-2021-8-1-85-92.; Zutt M., Strutz F., Happle .R, et al. Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. Dermatology. 2003;207(1):72-6. doi:10.1159/000070948.

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    Source: Achievements of Clinical and Experimental Medicine; No. 2 (2018) ; Достижения клинической и экспериментальной медицины; № 2 (2018) ; Здобутки клінічної і експериментальної медицини; № 2 (2018) ; 2415-8836 ; 1811-2471 ; 10.11603/1811-2471.2018.v0.i2

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    Source: Pharmacogenetics and Pharmacogenomics; № 2 (2018); 13-14 ; Фармакогенетика и фармакогеномика; № 2 (2018); 13-14 ; 2686-8849 ; 2588-0527

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    Relation: https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/83/83; Гнатенко Д.А., Копанцев Е.П., Свердлов Е.Д. Роль сигнального пути FGF/FGFR в канцерогенезе поджелудочной железы // Биомедицинская химия. – 2016. – № 6. – С. 629.; Федянин М.Ю., Хмелькова Д.Н., и др. Рецепторы фактора роста фибробластов при злокачественных опухолях // Злокачественные опухоли. – 2015. – № 12. – С. 19–28.; Федянин М.Ю., Хмелькова Д.Н., и др. Перспективы терапевтического воздействия на сигнальный путь FGFR // Успехи молекулярной онкологии. – 2015. – № 1. – С. 27–36.

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    Contributors: Исследование выполнено при поддержке Российского научного фонда (грант № 19-15-00442).

    Source: Cancer Urology; Том 16, № 1 (2020); 17-26 ; Онкоурология; Том 16, № 1 (2020); 17-26 ; 1996-1812 ; 1726-9776 ; 10.17650/1726-9776-2020-16-1

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