CHROMOSOME-STUDIES IN MALES AFFECTED BY DUCHENNE OR BECKER MUSCULAR-DYSTROPHY

We studied cytogenetically 48 male patients with Duchenne or Becker muscular dystrophy. All of them showed normal X chromosomes. Fragility of Xp21 was investigated in 1400 G-banded chromosomes of 28 patients and only one break was observed at this band (0.07%). This low frequency of breakage excludes Xp21 as a fragile site in these patients.

EPA protects against muscle damage in the mdx mouse model of Duchenne muscular dystrophy by promoting a shift from the M1 to M2 macrophage phenotype

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Importância dos mastócitos na patogênese da distrofia muscular de Duchenne em cães Golden Retriever

Pós-graduação em Medicina Veterinária - FCAV

Muscular Dystrophy in Dogs: Does the Crossing of Breeds Influence Disease Phenotype?

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Effect of Citrus aurantium l. essential oil on muscle regeneration in mdx mice

Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder characterized by the progressive loss of muscular strength. Mdx mutant mice show a marked deficiency in dystrophin, which was related to muscle membrane stability. The aim of this study was to verify the possible protective anti-inflammatory effect of citrus oil on mdx muscle fibers. Thus, adult male and female mdx mice (014/06-CEEA) were divided into control and citrus-treated. After 60 days of treatment, one ml of blood was collected for creatine kinase (CK) test. Diaphragm, sternomastoideus, anterior tibial and gastrocnemius muscles were removed and processed according to histological routine methods. The observed alterations indicate a direct effect of citrus. Recent studies have improved the diagnosis of muscular diseases but with no definitions of efficient treatments. Intervention with several therapies is important to many patients presenting muscular dystrophy, which enables them to live longer and be more active, while there is no development of gene therapies.

Efeitos da ciclosporina a sobre a função renal de cães da raça Golden Retriever normais ou afetados pela distrofia muscular

The muscular dystrophy of Golden Retriever is a degenerative miopaty caused by the absence of dystrophy and it is genetically homologue of the Duchenne muscular dystrophy in humans, so, these dogs are considerably experimental models for studies on cellular therapy. Their successful depends of the adequate immunosuppression. Cyclosporin A is indicated for that and the monitoring of blood concentration and adverse effects are essential to viabilise the therapy. It was studied GRMD dogs, and normal dogs from the same breed, submitted for therapy with CsA, associated, on GRMD, of cell transplantation. It was evaluated the possible effects of the drug on renal functions. It has been considerate the clinic manifestations, urinalisis, testis of glomerular function and blood concentrations of urea, cretinine, sodium and potassium. In our results we found a discrete increase of blood urea on booth groups; increased levels of urine's cylinders and protein and also increase of urinary density on GRMD group. CsA therapy could make acute lesions on renal tubules, especially on GRMD. These dogs also have different reactions than normal dogs on relation of ions homeostasis and renal function. However, earlier diagnosis and adequate treatment could prevent the development of renal diseases.

Análise das dosagens e concentrações séricas da ciclosporina A em cães da raça Golden Retriever normais ou afetados pela distrofia muscular

The muscular dystrophy of Golden Retriever (GRMD) is a degenerative miopaty caused by the absence of dystrophy and it is genetically homologue of the Duchenne muscular dystrophy in humans, so, these dogs are considerably experimental models for studies on cellular therapy. Their successful depends of the adequate immunosuppression. Cyclosporin A (CsA) is indicated for that and the monitoring of the blood concentration and adverse effects are essential to viabilise the therapy. It was studied GRMD dogs, and normal dogs from the same breed, submitted for therapy with CsA, associated, on GRMD, of cell transplantation. It was evaluated blood concentration of the drug, between two or tree days using the method of FPIA. In our results we found that the CsA blood concentrations oscillated too much on six than eight of our animals. We concluded that the doses varieties individually and the correct dosage as to important as the evaluation of the blood concentration of the drug and became viable for cell therapy.

Involvement of organic systems in golden retriever X-linked muscular dystrophy

Duchenne muscular dystrophy is a lethal genetic disease characterized by progressive muscle degeneration that usually had been used the Golden Retriever as a model for studying the disease (GRMD - Golden Retriever Muscular Dystrophy). A total of 16 male dystrophic Golden Retrievers dogs between 5 to 51 months of age were examined in the present study. The animals were classified as dystrophic according to two simultaneous complementary criteria: genotypic analysis and serum creatine kinase levels. The macroscopic abnormalities of the different organs and tissues and histopathological features were described using hematoxylin-eosin. The lesions in the skeletal muscles associated with the digestive problems resulted in cachexia with different intensities in all the dystrophic dogs. Cardiac muscle involvement was found in 87,5% of the GRMD dogs resulting, however, in cardiac failure in only 18,8% of the animals. The musculature of the diaphragm was hypertrophic in all affected animals resulting in progressive respiratory muscle weakness and at later stages in respiratory failure (81,25%). The liver abnormalities found in dystrophic dogs were originated mainly from heart disease and developed progressively. Hyperemia of mucosa and granular material indicated changes in the functioning and emptying of bladder. The germinative lineage cells presented moderate to severe degeneration probably due to degeneration of the scrotum and cremaster muscle which prevented the proper thermo-regulation of the testicle. Our results highlight the fact that there is significant impairment of the cardiac, respiratory and skeletal muscle systems in GRMD dogs since the age of five months. In addition, significant alterations of the gastrointestinal tract, urinary and reproductive systems are indicating the presence of degenerative lesions in the smooth musculature.

Evaluation of intracellular calcium in golden retriever muscular dystrophy

The present study had the objective of evaluating calcium accumulations in muscle fibers and their correlation with the canine muscular dystrophy. After the deaths of the animals (13 dystrophic and 3 non-dystrophic), samples of the skeletal muscles were collected. The material was stained with hematoxylin-eosin, Gomori's modified trichrome and alizarin red S technique (pH 4.3). The histopathological changes were analyzed and the proportions of calcium-positive (CPF) and negative muscle fibers were evaluated. Histopathological changes such as muscle fiber diameter changes, necrosis, hyalinization, presence of inflammatory infiltrate and fatty atrophy were identified in all the dystrophic muscles. Statistically significant differences in numbers of CPF between dystrophic muscles and non-dystrophics were observed for the masseter (6%), brachial biceps (5%) and triceps, sartorius and femoral biceps (4%) muscles. The identifying calcium is of interest as a parameter for helping in diagnostic screening.

Função renal e homeostase de água, sódio e potássio em cães da raça Golden Retriever normais, portadores e afetados pela distrofia muscular

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Lesões do músculo gastrocnêmio e da junção músculo tendínea em cães afetados pela distrofia muscular progressiva

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Profiles of steroid hormones in canine X-Linked muscular dystrophy via stable isotope dilution LC-MS/MS

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)