Sentences with phrase «myopathy patient»

Utilising the RDRF, we have deployed national and international patient - driven and clinical registries including: the Myotubular and Centronuclear Myopathy Patient Registry, the Global Angelman Syndrome Registry, the Familial Hypercholesterolaemia Australasia Network Registry, and the Australian and New Zealand Neuromuscular Disorders Registries (Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, and Myotonic Dystrophy Registries).

Not exact matches

Simao Cruz and colleagues report the clinical findings and the results of MRI, muscle biopsy, collagen VI expression in cultured skin fibroblasts and genetic tests of a series of patients with Bethlem myopathy.

The RyR1 is of fundamental importance for the development of muscle force and a decrease in its content may be causally linked to the profound muscle weakness seen in patients with some forms of congenital myopathies linked to recessive RYR1 mutations.

Using myoblasts from DNM2 - mutated patients and using myoblasts and muscles from a knock - in mouse model of DNM2 - related myopathy, we analyzed structure of costameres by biochemical and immunocytochemical approaches, as well as their ultrastructure.

This facility is in charge of producing cell cultures from patient samples for both diagnosis (prenatal diagnosis; Ulrich and Betlem myopathies; seronegative myasthenia) and biobanking purposes.

In addition, HER2 is expressed in many normal tissues, giving systemic HER2 - targeted antibody therapy the potential to cause toxicity in a subset of patients, including cardiac myopathy, congestive heart failure, and pulmonary toxicity [14], [15].

For the simvastatin example, roughly one to two percent of patients who take the ubiquitous drug develop myopathy, a painful muscle injury that can lead to kidney complications and death in its most severe forms.

Our aim was to determine the presence of celiac disease and antibodies associated with celiac disease in patients with inflammatory myopathies and to investigate their relationship.

2007 Jan; 35 (1): 49 - 54, Celiac disease and antibodies associated with celiac disease in patients with inflammatory myopathy.

Serum antigliadin, anti-tissue transglutaminase, and antiendomysial antibodies were determined in 51 patients with inflammatory myopathies.

Positive status to HLA - DQ2 allele, which is known to be more frequent in patients with inflammatory myopathies, could explain the high prevalence of antigliadin antibodies in this population.

Thus, celiac disease is more prevalent in patients with inflammatory myopathies than in the general population.

The diagnostic value of HLA - DQ2 or - DQ8 haplotypes to detect celiac disease in patients with inflammatory myopathy is limited.

Some research estimates that as many as 80 percent of thyroid patients have some degree of myopathy, a weakening of the muscles that sometimes leads to pain, tenderness, cramps, and spasms.

Polyarthritis is often considered the Great Imitator as patients suffering from this problem can appear very similar to patients with intervertebral disc disease, myopathies, meningitis, and even myasthenia gravis.