Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Mikhail M, Kostik"'
Autor:
Rinat K. Raupov, Evgeny N. Suspitsin, Elvira M. Kalashnikova, Lubov S. Sorokina, Tatiana E. Burtseva, Vera M. Argunova, Rimma S. Mulkidzhan, Anastasia V. Tumakova, Mikhail M. Kostik
Publikováno v:
Biomedicines, Vol 12, Iss 6, p 1244 (2024)
Introduction: Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early manifestation and more severe SLE courses in children suggest a stronger genetic
Externí odkaz:
https://doaj.org/article/4e8d648124e74cdba2465be24f105635
Autor:
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
Publikováno v:
Педиатрическая фармакология, Vol 20, Iss 4, Pp 318-336 (2023)
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article pres
Externí odkaz:
https://doaj.org/article/dd29ce8f7c954e10bb999e43b7ae4d52
Autor:
Irina P. Nikishina, Svetlana V. Arsenyeva, Valeria G. Matkava, Alia N. Arefieva, Mariya I. Kaleda, Alexandr V. Smirnov, Leonid M. Blank, Mikhail M. Kostik
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-9 (2023)
Abstract Fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disorder that is caused by a mutation in the ACVR1 gene and provokes severe heterotopic ossification. Since flares of the disease are associated with inflammation, it is as
Externí odkaz:
https://doaj.org/article/1e0a9b62261c49ddaab79a5e77ed0630
Publikováno v:
Вопросы современной педиатрии, Vol 22, Iss 3, Pp 271-276 (2023)
Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.Clinical case description. Male patie
Externí odkaz:
https://doaj.org/article/d05468928b1f4de0b1adb3fb2a1a7019
Autor:
Natalia V. Buchinskaya, Eugenia A. Isupova, Anastasia O. Vechkasova, Damir A. Malekov, Dmitry O. Ivanov, Mikhail M. Kostik
Publikováno v:
Frontiers in Medicine, Vol 10 (2024)
SummaryA 12-year-old girl with mucopolysaccharidosis (MPS) type I (Gurler-Scheie syndrome, Q70X/del C683 of the IDUA gene in the compound heterozygous state) regularly received enzyme replacement therapy (laronidase) since the preclinical stage (6 mo
Externí odkaz:
https://doaj.org/article/696382f46e0e4064bfc3f8a97d525b2f
Autor:
Veronika V. Petukhova, Alexander Yu. Mushkin, Mikhail M. Kostik, Tatyana I. Vinogradova, Aleksandr S. Kaftyrev, Valery A. Evseev, Alexander M. Kulkov
Publikováno v:
Гений oртопедии, Vol 29, Iss 1, Pp 78-84 (2023)
Introduction The complex treatment of osteoarticular tuberculosis is based on combination of anti-tuberculosis therapy, complete (radical) removal of involved bone and restoration of the supporting and motor function of the affected musculoskeletal
Externí odkaz:
https://doaj.org/article/ce4fb425ab5545c7b51fc0f7c5a1f50e
Autor:
Natalia V. Buchinskaya, Nato D. Vashakmadze, Natalia V. Zhurkova, Lubov S. Sorokina, Liudmila К. Mikhaylova, Leyla S. Namazova-Baranova, Ekaterina Yu. Zakharova, Valentina I. Larionova, Mikhail M. Kostik
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 6S, Pp 548-557 (2023)
Background. Differential diagnosis of attenuated forms of mucopolysaccharidosis (MPS) and juvenile idiopathic arthritis (JIA) can be challenging due to their similarities.Objective. The aim of the study is to create simple diagnostic criteria (DScore
Externí odkaz:
https://doaj.org/article/269cb7923dad48b29271235e4536c872
Autor:
Ilia S. Avrusin, Natalia N. Abramova, Konstantin E. Belozerov, Liudmila V. Bregel, Olesya S. Efremova, Alla A. Vilnits, Julia E. Konstantinova, Eugenia A. Isupova, Tatiana L. Kornishina, Vera V. Masalova, Olga V. Kalashnikova, Vyacheslav G. Chasnyk, Yuriy S. Aleksandrovich, Dmitri O. Ivanov, Mikhail M. Kostik
Publikováno v:
Biomedicines, Vol 12, Iss 2, p 294 (2024)
Hemophagocytic syndrome is a key point in the pathogenesis of severe forms of multisystem inflammatory syndrome associated with COVID-19 in children (MIS-C). The factors associated with hemophagocytosis in patients with MIS-C were assessed in the pre
Externí odkaz:
https://doaj.org/article/95b5c7373c024244981213d17d7a8866
Autor:
Daria I. Kozlova, Arseny V. Rybakov, Karina A. Yureva, Vitaly V. Khizha, Lybov S. Sorokina, Mikhail M. Kostik, Alexandr B. Guslev
Publikováno v:
Biomedicines, Vol 12, Iss 1, p 135 (2024)
Juvenile idiopathic arthritis (JIA) is a systemic autoimmune disease that affects the joints, leading to disability. Cytokines and signaling molecules expressed by the immune system cells play a key role in JIA pathogenesis. Understanding how their c
Externí odkaz:
https://doaj.org/article/91d66c5dd6744834a1d79161169491b8
Publikováno v:
Вопросы современной педиатрии, Vol 21, Iss 3, Pp 253-264 (2022)
Progeria, or Hutchinson-Gilford Syndrome is a rare disease from the group of laminopathies characterized by premature aging with skin, bones and cardiovascular system lesions. Pathogenesis is based on pathogenic variants in the LMNA gene leading to a
Externí odkaz:
https://doaj.org/article/bbbbd5cb01be418299376173919843a8