Search results for "musculo"
showing 10 items of 1726 documents
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…
Association between ribs shape and pulmonary function in patients with Osteogenesis Imperfecta
2019
Graphical abstract
Therapeutic Potential of AntagomiR-23b for Treating Myotonic Dystrophy
2020
Myotonic dystrophy type 1 (DM1) is a chronically debilitating, rare genetic disease that originates from an expansion of a noncoding CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. The expansion becomes pathogenic when DMPK transcripts contain 50 or more repetitions due to the sequestration of the muscleblind-like (MBNL) family of proteins. Depletion of MBNLs causes alterations in splicing patterns in transcripts that contribute to clinical symptoms such as myotonia and muscle weakness and wasting. We previously found that microRNA (miR)-23b directly regulates MBNL1 in DM1 myoblasts and mice and that antisense technology (“antagomiRs”) blocking this microRNA (miRNA) boost…
Autoantibodies in Spondyloarthritis, Focusing on Anti-CD74 Antibodies
2019
Spondyloarthritis (SpA) is an inflammatory rheumatic disease with diverse clinical presentation. The diagnosis of SpA remains a big challenge in daily clinical practice because of the limitation in specific biomarkers of SpA, more biomarkers are still needed for SpA diagnosis and disease activity monitoring. In the past, SpA was considered predominantly as auto-inflammatory disease vs. autoimmune disease. However, in recent years several researches demonstrated a broad autoantibody response in SpA patients. Study also indicated that mice lack of ZAP70 in T cell develop SpA featured inflammation. These studies indicated the autoimmune features of SpA and gave rise to the potential use of aut…
A Strongyloides stercoralis infection presenting as arthritis of sternoclavicular joint
2016
Strongyloides stercoralis (S. stercoralis) is a parasite, endemic in tropical, subtropical, and also not rarely in temperate regions, that infects up to 100 million people worldwide [1]. Patients m...
Gene variants of osteoprotegerin, estrogen-, calcitonin- and vitamin D-receptor genes and serum markers of bone metabolism in patients with Gaucher d…
2018
Anca Zimmermann,1 Radu A Popp,2 Heidi Rossmann,3 Simona Bucerzan,4 Ioana Nascu,4 Daniel Leucuta,5 Matthias M Weber,1 Paula Grigorescu-Sido41Department of Endocrinology and Metabolic Diseases, 1st Clinic and Polyclinic of Internal Medicine, University of Mainz, Mainz, Germany; 2Department of Medical Genetics, University of Medicine and Pharmacy, Cluj-Napoca, Romania; 3Institute for Clinical Chemistry and Laboratory Medicine, University of Mainz, Mainz, Germany; 4Center of Genetic Diseases, 1st Pediatric Clinic, University of Medicine and Pharmacy, Cluj-Napoca, Romania; 5Department of Medical Informatics and Biostatistics, University of Medicine and Pharmacy, Cluj-Napoca, RomaniaPurpose: Oste…
The Vitamin D Receptor Regulates Glycerolipid and Phospholipid Metabolism in Human Hepatocytes.
2020
The vitamin D receptor (VDR) must be relevant to liver lipid metabolism because VDR deficient mice are protected from hepatosteatosis. Therefore, our objective was to define the role of VDR on the overall lipid metabolism in human hepatocytes. We developed an adenoviral vector for human VDR and performed transcriptomic and metabolomic analyses of cultured human hepatocytes upon VDR activation by vitamin D (VitD). Twenty percent of the VDR responsive genes were related to lipid metabolism, including MOGAT1, LPGAT1, AGPAT2, and DGAT1 (glycerolipid metabolism)
Biplanar ultrasound investigation of in vivo Achilles tendon displacement non-uniformity
2019
The Achilles tendon is a common tendon for the medial and lateral gastrocnemius and soleus muscles. Non‐uniform Achilles tendon regional displacements have been observed in vivo which may result from non‐uniform muscle loading and intratendinous shearing. However, prior observations are limited to the sagittal plane. This study investigated Achilles tendon tissue displacement patterns during isometric plantarflexor contractions in the coronal and sagittal planes. Fourteen subjects (5 female, 9 male, 26 ± 3 year) performed maximal isometric plantarflexor contractions with the knee in full extension and flexed to 110°. An ultrasound transducer positioned over the free Achilles tendon collecte…
Glucosamine sulphate: an umbrella review of health outcomes
2020
Background and Aims:Glucosamine sulphate (GS) can be used as background therapy in people affected by knee osteoarthritis (OA). Knowledge regarding the efficacy and safety of GS is of importance since its use worldwide is increasing. Therefore, the present study aimed to map and grade the diverse health outcomes associated with GS using an umbrella review approach.Methods:Medline, Cinahl and Embase databases were searched until 1 April 2020. An umbrella review of systematic reviews and meta-analyses of randomized controlled trials (RCTs) was carried out. The evidence from the RCTs was graded using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) tool.Results:Fro…
Ultrasonographic Measurements of the Achilles Tendon in Elderly Athletes and Sedentary Men
1994
Ultrasonography was performed on the Achilles tendon of the dominant limb of 18 male elderly athletes and 11 sedentary men, aged 70 to 80 years. The tendons were examined with a real-time linear array scanner using a 7.5 MHz transducer. Both longitudinal and transverse images were taken. The mean width of the Achilles tendon was significantly larger in the athletes than in the control subjects. The tendon thickness and cross-sectional area did not differ significantly between the groups, but the figures may indicate a tendency for larger cross-sectional area in the athletes. The results suggest tendon hypertrophy following long-term training.