Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Preparation of 3D Decellularized Matrices from Fetal Mouse Skeletal Muscle for Cell Culture.
J Vis Exp
March 2023
Centre for Ecology, Evolution and Environmental Changes and Global Change & Sustainability Institute, Department of Animal Biology, Faculty of Sciences, University of Lisbon.
The extracellular matrix (ECM) plays a crucial role in providing structural support for cells and conveying signals that are important for various cellular processes. Two-dimensional (2D) cell culture models oversimplify the complex interactions between cells and the ECM, as the lack of a complete three-dimensional (3D) support can alter cell behavior, making them inadequate for understanding in vivo processes. Deficiencies in ECM composition and cell-ECM interactions are important contributors to a variety of different diseases.
View Article and Find Full Text PDFCongenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene.
Am J Med Genet A
October 2022
Research Centre for Medical Genetics, Moscow, Russia.
We present a patient with congenital myopathy and an inborn epiphysiolysis of the ulna. Whole-exome sequencing analysis revealed two novel mutations in Activation Signal Cointegrator Complex 1 (ASCC1) gene in a compound heterozygous state-a splicing variant c.395-2A>G and a deletion of the first two coding exons.
View Article and Find Full Text PDFSevere onset of inflammatory myositis in a child: think to paraneoplastic myositis.
Ital J Pediatr
July 2021
University of Trieste, Via dell'Istria 65/1, Trieste, Italy.
Background: Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child.
View Article and Find Full Text PDFSerum lactate at 24 hours is associated with outcome in children requiring extracorporeal membrane oxygenation for pulmonary causes - a retrospective, observational study.
Swiss Med Wkly
October 2020
Division of Congenital Cardiovascular Surgery, University Children's Hospital Zurich, Switzerland / Children's Research Centre, University Children's Hospital Zurich, Switzerland.
Objectives: Extracorporeal membrane oxygenation (ECMO) has become an essential life-saving tool. Being resource-intensive, judicious use and optimising the outcomes of this precious resource is important. This retrospective, explanatory, observational study aimed to quantify associations between factors and outcome after pulmonary ECMO in children.
View Article and Find Full Text PDFEvidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders.
Cell Mol Neurobiol
April 2022
Departamento de Análises Clínicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Mitochondrial fatty acid β-oxidation disorders (FAODs) are a group of about 20 diseases which are caused by specific mutations in genes that codify proteins or enzymes involved in the fatty acid transport and mitochondrial β-oxidation. As a consequence of these inherited metabolic defects, fatty acids can not be used as an appropriate energetic source during special conditions, such as prolonged fasting, exercise or other catabolic states. Therefore, patients usually present hepatopathy, cardiomyopathy, severe skeletal myopathy and neuropathy, besides biochemical features like hypoketotic hypoglycemia, metabolic acidosis, hypotony and hyperammonemia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!