Myology research highlights
RSS feedNo beneficial effect of resveratrol in fatty acid oxidation disorders
Resveratrol has been studied in a randomized, placebo-controlled, cross-over clinical trial. Organized jointly by French, Danish and Dutch, the study aimed to measure possible positive effects in several fatty acid oxidation disorders, some of which have muscle expression (carnitine palmitoyltransferase type II or CPTII deficiency): eight patients participated in the study, which took place over … [Read more]
Positive anti-FHL1 antibodies in certain inflammatory myopathies
Australian and Swedish researchers have studied the immunological profile of patients with normal inflammatory myopathies (274) or scleroderma (174) and compared them with those of 100 control participants. The presence of autoantibodies directed against FHL1, a protein with four and a half LIM domains, already implicated in an X-linked hereditary myopathy, was more specifically sought. … [Read more]
A compilation of data on primary carnitine deficiencies
A review of the literature carried out by Dutch authors sheds light on the symptoms and signs, often disparate, associated with this metabolic disease discovered in 1973 and which, in certain countries, is the subject of screening. newborn: 757 patient observations were retained from 166 published articles; 20% had only a biochemical diagnosis which may … [Read more]
Update on hematological abnormalities in neuromuscular genetic pathologies
American researchers examined the presence and type of blood abnormalities existing in certain hereditary myopathies. These abnormalities may be of interest for the positive diagnosis, used as biomarkers, but also for the differential diagnosis. Anaemias, abnormalities of all kinds of white blood cells and thrombocytopenias are most often encountered. Many mitochondrial pathologies with muscular expression … [Read more]
Glucocorticoids more helpful for breathing than for the heart past loss of walking ability in DMD
American clinicians have been trying to find out if long-term corticosteroid therapy in DMD could be of any use in the non-ambulatory stage of the disease. Using data from 398 patients with DMD recruited through the MD STARnet network, they observed that: deterioration in left ventricular function was unaffected; respiratory function seemed to improve, with … [Read more]
Variety of practices in the cardiac management of patients with DMD
American cardio-paediatricians gathered within the ACTION network (Advanced Cardiac Therapies Improving Outcomes Network) were questioned about their management practices concerning DMD: 31 specialists from 23 separate institutions agreed to participate in the survey; while access to cardiac MRI and Holter monitoring is uniformly possible across the United States, their frequency and indications vary significantly from … [Read more]
High-throughput genomic sequencing (NGS) proves reliable for detecting deletions of the SMN1 gene
Chinese researchers associated with the Beijing Genomics Institute (BGI) compared three molecular biology techniques to detect the number of copies of the SMN1 gene in order to confirm the genetic diagnosis of spinal muscular atrophy (SMA): 478 DNA samples were studied simultaneously in quantitative PCR (qPCR), NGS and MLPA, the latter technique serving as a … [Read more]
Plasma biomarkers in myositis ossificans
Myositis ossificans or fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disease associating progressive ankylosis and malformative bone abnormalities. American researchers have identified several biomarkers of the disease from the study of the plasma of 40 patients carrying the most frequently encountered mutation (R206H) and 40 control subjects: adiponectin and tenascin levels were highly correlated … [Read more]
A meta-analysis confirms the increase of 10 years in life expectancy in DMD
A team of British and Swedish researchers calculated the life expectancy of persons with Duchenne muscular dystrophy (DMD) from individual survival data extracted from survival curves published up to July 2020. The systematic bibliographic search identified 14 publications that gathered data from 2283 patients with DMD, including 1409 deceased, from North and South America, Europe … [Read more]
Intranuclear inclusions in oculo-pharyngo-distal myopathy (OPDM)
Oculopharyngodistal myopathy (OPDM) is an ultra-rare autosomal dominant neuromuscular disease in which abnormal CGG-like nucleotide repeats have been identified in three genes (NOTCH2NLC, GIPC1, LRP12). Japanese researchers have studied the presence of p62-labeled nuclear inclusions in skin samples: these inclusions are similar to those described in intranuclear inclusion disease (NIID), which doesn’t include myopathy; in … [Read more]
