Vaccination with polysaccharide pneumococcal vaccine "Pneumo 23" (Sanofi Pasteur, France) was performed in 31 children with type 1 diabetes mellitus (DM1) as well as in 19 children with respiratory tract diseases (asthma, chronic pneumonia), which formed comparison group. Fourty-three unvaccinated children with DM1 were included in the control group. Dynamics of IgG levels to mixture of pneumococcal polysaccharides (PS) included in the vaccine as well as to PS of serotypes 3, 6B, 9N, 23F, and to cell wall polysaccharides of Streptococcus pneumoniae were assessed. Using ELISA method, significant increase of IgG levels to mixture of PS and to PS of pneumococcal serotype 3 was detected. Although intensity of immune response to vaccination in children with respiratory diseases was significantly higher compared to children with DM1 (mean geometric titer of antibodies, proportion of patients with high antibody titers, and with 4-fold seroconversion). Development of methods to strengthen immune response in children with DM1 vaccinated against pneumococcal infection is required.
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Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.
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Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Chronic kidney disease (CKD) and the genetic disorder myotonic dystrophy type 1 (DM1) each are associated with progressive muscle wasting, whole-body insulin resistance, and impaired systemic metabolism. However, CKD is undocumented in DM1 and the molecular pathogenesis driving DM1 is unknown to involve the kidney. Here we use urinary extracellular vesicles (EVs), RNA sequencing, droplet digital PCR, and predictive modeling to identify downregulation of metabolism transcripts Phosphoenolpyruvate carboxykinase-1, 4-Hydroxyphenylpyruvate dioxygenase, Dihydropyrimidinase, Glutathione S-transferase alpha-1, Aminoacylase-1, and Electron transfer flavoprotein B in DM1.
View Article and Find Full Text PDFInternational collaboration to improve knowledge on myotonic dystrophy type 2.
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November 2024
Centre for Brain Research Neurogenetics Clinic, University of Auckland, Auckland, New Zealand.
Background: The TREAT-NMD Global Registry Network is a global collaboration of neuromuscular disease registries, including myotonic dystrophy type 2 (DM2), which aims to facilitate collaborative research and clinical trials.
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Comparison of Two Questionnaires for Sleep-Related Symptoms in Pediatric and Adult Patients With Myotonic Dystrophy Type 1.
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Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA.
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View Article and Find Full Text PDFConcordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.
J Mol Diagn
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Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children's Hospital, Seattle, Washington; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, Washington; Department of Genome Sciences, University of Washington, Seattle, Washington; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, Washington. Electronic address:
Article Synopsis
- Current clinical testing for imprinting disorders is complicated and usually involves several tests to get a clear diagnosis.
- We explored the use of whole-genome long-read sequencing (LRS) as a single test to analyze different genetic variations and methylation patterns in individuals with Prader-Willi or Angelman syndrome.
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