9 results match your criteria: "Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University[Affiliation]"
[Natural history of spinal muscular atrophy type I].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
JSC BIOCAD, St. Petersburg, Russia.
Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by the progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 in 10.000 live births.
View Article and Find Full Text PDF[Risdiplam for the treatment of spinal muscular atrophy].
Zh Nevrol Psikhiatr Im S S Korsakova
March 2024
Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia.
Spinal muscular atrophy (SMA) is a devastating disease that is the leading genetic cause of death in infants and young children. It includes a broad spectrum of phenotypes that are classified into clinical groups based on the age of onset and maximum motor function achieved. The most common form of SMA is due to a defect in the survival motor neuron 1 gene () localized to 5q11.
View Article and Find Full Text PDFShort-term and medium-term clinical outcomes of multisystem inflammatory syndrome in children: a prospective observational cohort study.
Ital J Pediatr
January 2024
Department of Paediatrics and Paediatric Infectious Diseases, Institute of Child's Health, Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia.
Background: Even though the incidence of Multisystem Inflammatory Syndrome in children (MIS-C) is decreasing cases are still reported across the world. Studying the consequences of MIS-C enhances our understanding of the disease's prognosis. The objective of this study was to assess short- and medium-term clinical outcomes of MIS-C.
View Article and Find Full Text PDFSafety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
Lancet Neurol
December 2022
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Background: Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal muscular atrophy. The FIREFISH study is investigating the safety and efficacy of risdiplam in treated infants with type 1 spinal muscular atrophy versus historical controls. The primary endpoint of part 2 of the FIREFISH study showed that infants with type 1 spinal muscular atrophy attained the ability to sit without support for at least 5 s after 12 months of treatment.
View Article and Find Full Text PDFNatural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Orphanet J Rare Dis
July 2022
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Article Synopsis
- ANCHOVY was a global study examining the natural progression of Type 1 spinal muscular atrophy (SMA) to contextualize findings from the FIREFISH study on risdiplam treatment.
- The research involved analyzing data from 60 patients with SMA symptoms starting between 28 days and 3 months of age, focusing on outcomes like time to death, need for ventilation, and achievement of motor milestones.
- Results showed that patients faced severe challenges, with median ages of around 7.3 months for death or ventilation, and none were able to achieve significant motor skills, highlighting the stark differences compared to those treated with risdiplam in prior studies.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Neurol Genet
February 2021
Medical Genetics Unit (R.S., R.R., F.F., C.T., A.M., M.N., F.G., A.F.), Department of Medical Sciences, University of Ferrara, Italy; Neurologie (Y.S.), CHU de Benbadis, Constantine, Algérie; 2nd Department of Paediatrics Clinic (L.S., A.H.), Semmelweis University; Institute of Genomic Medicine and Rare Disorders (B.F., M.J.M.), Semmelweis University, Budapest, Hungary; Department of Medical Genetics (L.A.), Medical University, Varna, Bulgaria; Department of Pediatrics (I. Litvinenko), Medical University Sofia; Department of Child Neurology (I. Litvinenko), University Pediatric Hospital "Prof. Ivan Mitev", Sofia; Department Pediatrics (I.I.), St. George University Hospital, Medical University Plovdiv, Bulgaria; Pediatric Neurology Department (Y.V.), Pediatric Neurologist County Clinical Emergency Hospital of Constanta; G. Curteanu Municipal Clinical Hospital Oradea (O.A.I.); Department of Neuroscience (M.V., M. Militaru), Iuliu Hatieganu University of Medicine and Pharmacy, Cluj Napoca; Pediatric Neurology Department (C.B., N.B.), "Alexandru Obregia" Clinical Psychiatry Hospital, Bucharest; "Grigore T Popa" University of Medicine and Pharmacy (B.L., C.R., M.P.); "Sfanta Maria" Children's Hospital (B.L., C.R., M.P.); Pediatric Clinical Hospital Sibiu (G.V.); "Dr. Victor Gomoiu" Children's Hospital (D.E., D. Vasile, M.S.); "Carol Davila" University of Medicine and Pharmacy (M.S., N.B.), Bucharest, Romania; Russian Children Neuromuscular Center (D. Vlodavets), Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia; Department of Neuroscience Neurology and Pediatric Neurology "Iuliu Hatieganu" University of Medicine and Pharmacy (M. Mager), Faculty of Medicine; Pediatric Neurology Department (M. Mager), Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; Department of Basic and Clinical Sciences (T.K.), University of Nicosia, Cyprus; Department of Pediatrics (S.D.), General Hospital Zadar, Zadar, Croatia; Department of Paediatrics (I. Lehman, J.S.F.); University Hospital Centre Zagreb, ; Faculty of Medicine University of Osijek (J.S.F.), Croatia; University Hospital of Neurology and Psychiatry Sveti Naum (V.B.); Clinic of Neurology (V.G.), University Hospital Sofiamed; Sofia University "St. Kliment Ohridski" (V.G.)Bulgaria; Institute of Biomedical Sciences (B.B.), Faculty of Medicine, Vilnius University, Lithuania; Ali Ait Idir Hospital (S.D.B., S.M.-M.), Algiers, Algeria; University of Algiers I. Algeria (S.D.B., S.M.-M.); Center of Genomic Medicine (A.C.E.), University of Medicine and Pharmacy Victor Babes Timisoara; Regional Center of Medical Genetics Timis (A.C.E.), Clinical Emergency Hospital for Children Louis Turcanu Timisoara, Romania; Department of Neurology (A.L., A.P., A.K.-P.), Medical University of Warsaw, Poland; Institute of Neurology (A.S.), Psychiatry and Narkology National Academy of Medical Science of Ukraine; Neurologie (D.B.K., O.D.), CHU Tidjani Damerdji, Tlemcen, Algerie; and BGI-Shenzhen (M.F., Z.L.), Shenzhen, China.
Objective: Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin () gene mutations, either for disease prevention or personalized therapies. To evaluate the ethnic-related genetic assortments of mutations, which may impact on DMD genetic diagnosis pipelines, we studied 328 patients with DMD and BMD from non-European countries.
Methods: We performed a full DMD mutation detection in 328 patients from 10 Eastern European countries (Poland, Hungary, Lithuania, Romania, Serbia, Croatia, Bosnia, Bulgaria, Ukraine, and Russia) and 2 non-European countries (Cyprus and Algeria).
A national survey of Russian physicians' knowledge of diagnosis and management of food-induced anaphylaxis.
BMJ Open
July 2017
Department of Paediatrics, Imperial College London, London, UK.
Objectives: Food allergy is an increasing burden worldwide and is a common problem within paediatric populations, affecting 5%-8% of children. Anaphylaxis caused by food proteins is a potentially life-threatening condition and all healthcare practitioners should be aware of its recognition and management. Russia is the largest country in Europe but it is still unknown whether physicians are prepared to diagnose and manage food-induced anaphylaxis effectively.
View Article and Find Full Text PDFImmune Components in Human Milk Are Associated with Early Infant Immunological Health Outcomes: A Prospective Three-Country Analysis.
Nutrients
May 2017
Department of Paediatrics, Imperial College London, London W2 1NY, UK.
The role of breastfeeding in improving allergy outcomes in early childhood is still unclear. Evidence suggests that immune mediators in human milk (HM) play a critical role in infant immune maturation as well as protection against atopy/allergy development. We investigated relationships between levels of immune mediators in colostrum and mature milk and infant outcomes in the first year of life.
View Article and Find Full Text PDFColostrum and Mature Human Milk of Women from London, Moscow, and Verona: Determinants of Immune Composition.
Nutrients
November 2016
Department of Paediatrics, Imperial College London, London W2 1NY, UK.
Cytokines and growth factors in colostrum and mature milk may play an important role in infant immune maturation, and may vary significantly between populations. We aimed to examine associations between environmental and maternal factors, and human milk (HM) cytokine and growth factor levels. We recruited 398 pregnant/lactating women in the United Kingdom, Russia, and Italy.
View Article and Find Full Text PDF