Sentences with phrase «myopathy of»

Hereditary Myopathy of Labrador Retrievers affects Labrador Retrievers in North America, Europe and Australia; in this type, muscle loss has been noted in affected dogs as young as 6 months old

Biopsy results from the affected puppy were sent to the University of California, San Diego - Comparative Neuromuscular Laboratory where an inflammatory and necrotizing myopathy of undetermined origin was concluded and a GWAS study (genome - wide association study) was recommended on their report of March 7, 2016.

Fessel W J. Myopathy of hypothyroidism.

A 3 - year - old Great Dane, born with inherited myopathy of Great Danes, the canine equivalent of centronuclear myopathy in humans.

Not exact matches

The major categories of these devastating wasting diseases include: muscular dystrophy, congenital myopathy and metabolic myopathy.

These are the muscular dystrophies (among which are Duchenne and Becker); motor neuron diseases (including ALS and SMA); the peripheral nerve disorders (CMT and Friedreich's ataxia); inflammatory myopathies; disorders of the neuromuscular junction; metabolic diseases of muscle as well as other myopathies.

Known side effects include an increase in the risk of diabetes (50 - 100 new cases per 10,000 people), haemorrhagic strokes (5 - 10 per 10,000) and myopathy (5 per 10,000).

This dose would now be considered a low dose, but the authors note that randomised trials of higher doses have not found that statins cause an increase in muscle related symptoms, other than the very small increase in myopathy.

Researchers who previously showed that a gene therapy treatment could save the lives of dogs with a deadly disease called myotubular myopathy — a type of muscular dystrophy that affects the skeletal muscles — have found that the therapy is long - lasting.

Myotubular myopathy is estimated to affect 1 in 50,000 male births, and boys born with the condition often die in the first year of life.

Often, those smaller animals express the genetic abnormality very differently from humans, says clinical scientist and pediatric neurologist James Dowling at the University of Michigan, Ann Arbor, who studies the myopathies and their genetic causes in both children and zebrafish.

In addition to the Great Danes, researchers, including Laporte, have found Labrador retrievers that bear two other gene mutations that cause different forms of recessive centronuclear myopathy, one linked to chromosome 2 and the other to the X chromosome.

The researchers showed that a progressive mitochondrial myopathy, PEO - disease, and infantile spinocerebellar ataxia, both caused by mitochondrial dysfunction, lead to shaken folate - metabolism, irrespective of nutrient intake.

Peripheral nervous system complications of sepsis include two conditions, critical illness polyneuropathy and critical illness myopathy, which cause muscle weakness and inability to wean from a ventilator.

The discovery of the gene for Native American myopathy, however, may help develop drugs to treat the myopathy, as well as other related muscle diseases.

UW Medicine researchers David Mack, Melissa Goddard, Jessica Snyder, Matthew Elverman, and Valerie Kelly co-authored the report, «Systemic AAV8 - mediated gene therapy drives whole - body correction of myotubular myopathy in dogs.»

Scientists then looked at the human version of the gene, and found that the gene was mutated in people suffering from Native American myopathy.

«This could therefore have an impact on the treatment of muscular diseases, including myopathies and muscular dystrophies.»

The discovery could have an important impact on the treatment of muscular diseases such as myopathies and muscular dystrophies.

More broadly, he said, «These findings are part of an emerging theme that there is a whole spectrum of diseases that includes ALS, and some forms of dementia and myopathy, that are caused by disturbance in the behavior of these structures that perturbs cellular organization.»

We suggest these observations will have therapeutic implications for skeletal myopathies and systemic diseases such as diabetes and obesity and for the aged population, in which reduced endurance impacts mortality and activities of daily living (57); as well as societal implications in terms of altering athletic performance.

In his graduate research, Linsley discovered the gene Stac3 is a component of the excitation - contraction machinery in skeletal muscle and the mechanism by which mutations in that gene cause Native American Myopathy, a rare but devastating congenital disease.

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.

These findings are generally consistent with those from recent systematic reviews, some of which also included trials of statins for secondary prevention.47,51 - 53 Similar to other meta - analyses of primary and secondary prevention trials, 54,55 this review found no association between use of statins and increased risk of muscle - related harms, although some observational studies and randomized rechallenge trials found statins associated with increased risk of myopathy or joint - related symptoms.56 - 58 The large HOPE - 3 trial found statins associated with increased risk of cataract surgery, an unanticipated finding.14 No other trial of statins for primary prevention evaluated risk of cataracts or cataract surgery.

His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak - Higashi disease, GNE myopathy, and Hermansky - Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis.

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.

The Division of Pulmonary Medicine deals with the breath of life in all its aspects: control of breathing; sleep disorders; obstruction to airflow in the common diseases of upper and lower airways such as croup, bronchiolitis, asthma, cystic fibrosis, and bronchopulmonary dysplasia; restriction to lung function from disorders affecting the chest wall, the musculature, the nervous system, or lung tissue itself; congenital anomalies; accidents such as inhalation of foreign bodies, hydrocarbons, or toxic gases; secondary effects of non-pulmonary system disorders such as gastrointestinal reflux, myopathy, or cardiac dysfunction; disease of the upper respiratory tract including rhinitis and sinusitis; and so on.

Muscle inactivation of mTOR causes metabolic defects and dystrophin downregulation leading to a severe myopathy

When disrupted, they directly contribute to the development of several distinct myopathies.

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.

The screening proposed here is expected to lead to novel strategies for the treatment of centronuclear myopathies by reducing muscle weakness caused by central nuclei in diseased muscles.

AFM (2015 - 2016): Régulation of protein aggregation trough NBR1 and P62 phosphorygation: implication for protein aggregate myopathies

His research interests are focused on the molecular genetics of the inherited myopathies and neuromuscular junction disorders and the study of animal models of these disorders as a means to understand their pathophysiology as well as to develop means to monitor disease progression and therapeutic interventions.

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.

Defects in these genes are associated with several forms of myopathies (41), including limb - girdle muscular dystrophy 2F, which causes limb musculature wasting and locomotory troubles in juvenile individuals.

Without adequate supplies of sialic acid, progressive muscle degeneration (or myopathy) sets in.

Sialic acid synthesis is tightly regulated; defects in this pathway cause a variety of disorders, including hereditary inclusion body myopathy (HIBM), sialuria, infantile sialic acid storage disease (ISSD), and Salla disease.

The SMN gene was discovered by Prof. Judith Melki and Prof. Arnold Munnich at the Inserm laboratory located at Necker Hospital in Paris, with the consistent funding support of Inserm and the Association Française Contre les Myopathies (AFM).

Impaired excitation - contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

Results from this model show evidence of myopathy and muscle weakness in the absence of neuron loss, which further indicate the intrinsic role of SMN in the muscle.

University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according...

Created in 2005 through a collaboration between Inserm — National Institute of Health and Medical Research — and AFM - Telethon — French Association against Myopathies — I - Stem is the largest French laboratory for research and development dedicated to human pluripotent stem cells, of embryonic origin or obtained by reprogramming gene.

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.

I've seen them make a world of difference for overall energy and many have also been used rather successfully in mitochondrial - dysfunction - based fatiguing illness and muscle disorders (myopathies).

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.

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.

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

I just have a quick question, my current Doc wants me to go on pravastatin but with one autoimmune disease I don't want any chance of another (there's a rare autoimmune myopathy linked to statin drugs).

It is known that long - term treatment of rats with the drug causes myopathy and decreased skeletal muscle protein concentration (20,21).