Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Golden Retriever muscular dystrophy is an inherited, degenerative myopathy due to the absence of dystrophin and is used as a model of Duchenne muscular dystrophy of young boys. This report describes the radiographic abnormalities of Golden Retriever muscular dystrophy in 26 dogs. The thoracic abnormalities included diaphragmatic asymmetry (18/26), diaphragmatic undulation (18/26), and gastro-esophageal hiatal hernia (6/26). Pelvic abnormalities included narrowing of the body of the ilia (14/19), ventral deviation and curvature of the tuber ischii (14/19), elongation of the obturator foramen with a decrease in opacity of the surrounding bone (12/19), and lateral flaring of the wings of the ilia (12/19). Abdominal abnormalities consisted of hepatomegaly (14/22) and poor serosal detail (12/22). The unique thoracic abnormalities were a consistent finding in affected Golden Retriever muscular dystrophy dogs. The diagnosis of muscular dystrophy should be included in the differential list if the combination of diaphragm undulation and asymmetry, and gastro-esophageal hiatal hernia are identified. These diaphragmatic abnormalities are related to hypertrophy and hyperplasia of the diaphragm. Additionally, the skeletal changes of pelvic tilt, elongation of the pelvis, widening of the obturator foramina and thinning of the ischiatic tables appear to be specific to Golden Retriever muscular dystrophy in dogs. These pelvic abnormalities are most likely secondary to bone remodeling associated with the progressive skeletal myopathy and subsequent contracture/fibrosis.
 ...
PMID:Radiographic features of Golden Retriever muscular dystrophy. 1715 67

Cardiac involvement in Duchenne muscular dystrophy is asymptomatic until function is severely affected. Little is known about its evolution, and few animal models are available to study potential treatments. We therefore examined cardiac function and pathology in mdx/utrn(-/-) dystrophin/utrophin-deficient mice. Decreased left ventricular fractional shortening and ejection fraction, as well as increased end-diastolic volume, left ventricle dilation, and thinning of the ventricular wall and septum develop by 15weeks. Fibrosis is also detected in the outer region of both ventricle walls and the septum and ultrastructure analysis revealed abnormalities in mitochondrial organization, size, and shape. The functional changes observed are comparable to the evolution of dilated cardiomyopathy in Duchenne muscular dystrophy, indicating that mdx/utrn(-/-) dystrophin/utrophin-deficient mice are a possible phenotypic model for cardiomyopathy in Duchenne muscular dystrophy.
 ...
PMID:Cardiac dysfunction and pathology in the dystrophin and utrophin-deficient mouse during development of dilated cardiomyopathy. 2226 80