Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Report of an International Symposion (Febr. 15, 1975, Munich). Human growth hormone (HGH) acts on proliferation of cartilage, the basal process of growth, by the way of somatomedine and changes in protein metabolism. Growth can be enhanced in hypopituitary dwardism and with higher dosage in other forms of failure to thrive. HGH also seems to have a beneficial effect in patients with muscular dystrophy as shown in a preliminary report but not in thrombocytopenia. First observations on patients with osteogenesis imperfecta and on patients with non healing fractures of the long bones (pseudarthroses) have shown significant improvement. Of importance are the reports on stopping severe gastric hemorrhage in patients with stress ulcera.
Fortschr Med 1975 Sep 11
PMID:[Proceedings: The clinical effects of human growth hormone. Report on an international symposium of the German Kabi Corp. on February 15, 1975 in Munich]. 121 33

Two cases of childhood muscular dystrophy are described. One of them had clinical features suggestive of Emery-Dreifuss muscular dystrophy and the other with some features of Prader-Willi syndrome, besides proximal muscle weakness. Muscle biopsy from both cases revealed a clear abnormality of dystrophin, and were diagnosed as having Duchenne muscular dystrophy (DMD) by immunofluorescence examination; that is, absent dystrophin at the membrane of the muscle fibers. The clinical spectrum of DMD-related myopathies and the importance of dystrophin testing in childhood muscular dystrophies is discussed.
J Assoc Physicians India 1992 Sep
PMID:Dystrophin test in differential diagnosis of childhood muscular dystrophies. 130 19

Duchenne's muscular dystrophy (DMD), which affects 1/3500 live male births, involves a progressive degeneration of skeletal and cardiac muscle, leading to early death. The protein dystrophin is lacking in DMD and present, but defective, in the allelic, less severe, Becker muscular dystrophy and is also missing in the mdx mouse. Experiments on the mdx mouse have suggested two possible therapies for these myopathies. Implantation of normal muscle precursor cells (mpc) into mdx skeletal muscle leads to the conversion of dystrophin-negative fibres to -positive, with consequent improvement in muscle histology. Direct injection of dystrophin cDNA into skeletal or cardiac muscle also gives rise to dystrophin-positive fibres. Although both appear promising, there are a number of questions to be answered and refinements to be made before either technique could be considered possible as treatments for myopathies in man.
Bioessays 1992 Sep
PMID:Cell transplantation and gene therapy in muscular dystrophy. 136 21

X-linked recessive Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, a membrane cytoskeletal protein. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoprotein. The dystrophin-glycoprotein complex has been proposed to span the sarcolemma to provide a link between the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin. In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated protein. We have investigated the possibility that a deficiency of a dystrophin-associated protein could be the cause of severe childhood autosomal recessive muscular dystrophy (SCARMD) with a DMD-like phenotype. Here we report the specific deficiency of the 50K dystrophin-associated glycoprotein (M(r) 50,000) in sarcolemma of SCARMD patients. Therefore, the loss of this glycoprotein is a common denominator of the pathological process leading to muscle cell necrosis in two forms of muscular dystrophy, DMD and SCARMD.
Nature 1992 Sep 24
PMID:Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. 140 35

A 33-day feeding experiment was conducted with 3-day-old broiler chicks to assess the efficacy of various flavonoid and simple phenolic antioxidants in preventing nutritional muscular dystrophy (NMD) resulting from vitamin E deficiency. None of the flavonoids or simple phenolics at a dietary concentration of 1,000 ppm completely prevented NMD but quercetin reduced (P less than .05) its incidence and quercetin, morin, and ferulic acid reduced (P less than .05) the severity of the disorder. The low-selenium, low-vitamin E diet also promoted the development of a mild exudative diathesis (ED) in many of the birds, which was inhibited (P less than .05) by the rutin and silymarin treatments, but exacerbated (P less than .05) by quercetin, morin, and ferulic acid. Changes in concentrations of vitamin E in plasma, liver, or muscle, caused by the various treatments (other than vitamin E), were not related to protection against NMD or ED.
Poult Sci 1992 Sep
PMID:Research note: efficacy of various flavonoids and simple phenolics in prevention of nutritional myopathy in the chick. 140 42

A 35-year-old man with severe progressive dilating cardiomyopathy and no clinical signs of muscle disease underwent muscular investigations because of markedly increased serum creatine kinase. Muscle biopsy demonstrated Becker type muscular dystrophy with dystrophin of low molecular weight. Genetic analysis showed a deletion spanning from exon 45 to exon 46 in the Xp21 region. Xp21 Becker type muscular dystrophy must be considered in the differential diagnosis of dilating cardiomyopathy.
J Neurol Sci 1992 Sep
PMID:Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy. 143 89

Twenty-five patients with oropharyngeal dysphagia due to a variety of disorders (4 with muscular dystrophy, 4 with myasthenia gravis and 13 with inflammatory myopathies) were studied clinically by esophageal manometry and isotopic clearance. Clinically patients had moderate dysphagia and 45% other symptoms such as nasal regurgitation, bronchial aspiration, etc. The most important manometric abnormality was the feeble contractions of the pharyngeal musculature, more pronounced in patients with severe dysphagia (grade II). Isotopic clearance of the oropharynx showed slowing of the pharyngeal emptying curve and an increased residual activity in this area. Isotopic oropharyngeal clearance is a useful, comfortable and noninvasive test for determining the clinical improvement which accompanies the manometric recovery of the pharyngeal muscular contraction.
Rev Esp Enferm Dig 1991 Sep
PMID:[Oropharyngeal dysphagia due to a primary change in the pharyngeal musculature. A manometric and isotopic study]. 166 Nov 17

The localization of the protein dystrophin was studied using the immunofluorescence method, in muscle biopsies from 74 patients affected by different types of muscular dystrophy and 4 normal controls. In 15 patients with limb-girdle muscular dystrophy (LGMD) the pattern was indistinguishable from normal. Among 42 Duchenne patients (DMD), 3 were totally negative and 39 showed a variable proportion (4-30%) of partially labelled fibers. With one exception 17 Becker dystrophy patients (BMD), showed a positive sarcolemmal reaction. A diffuse reaction inside the fibers, which was not observed in normal controls, was seen in the majority of DMD and also in some of the BMD patients. Based on these observations it is suggested that in DMD, a small quantity of protein is still present or there is a cross-reaction with other proteins which share some homology with dystrophin. The present results suggest that it is possible to make a differential diagnosis between DMD and BMD through dystrophin immunohistochemistry. However, to distinguish between patients with BMD and LGMD phenotypes, or DMD and outliers, complementary immunoblot studies and quantitative determination of dystrophin are necessary.
J Neurol Sci 1990 Sep
PMID:Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study. 170 Aug 8

To evaluate the relationship of 24 hour total heart beats (THB) or ventricular arrhythmias and cardiopulmonary function, 29 patients with Duchenne's muscular dystrophy (DMD) were studied using Holter electrocardiographic and echocardiographic recordings. The THB were 144,428 +/- 12,237 beats per 24 hours in the child group (8 to 15 years, n = 12) and 136,355 +/- 19,991 beats per 24 hours in the adult group (16 to 25 years, n = 17). The THB in the adult group significantly correlated well with % VC (r = -0.74), PaCO2 (r = 0.67), PaO2 (r = -0.59) and the respiration rate (r = 0.71), but not in the child group. In both groups, the echocardiographic parameters of the left ventricular size and function (left ventricular dimension, ejection fraction and D/S ratio) did not significantly correlate with the THB. Premature ventricular contractions (PVCs) were observed in 14 of the 29 patients (48.3%), and high risk PVCs (Lown's grade 3-4b) were observed in 11 of these 14 patients (78.6%). Echocardiographic parameters of the left ventricular function in the high risk PVC group were significantly deteriorated as compared with the low risk PVC group (Lown's grade 0-2) (p less than 0.02-p less than 0.001). We conclude that the THB in the adult group was mainly related to depressed pulmonary function, and the severity of the PVCs in both the adult and child groups was mainly related to the degree of left ventricular dysfunction.
Jpn Heart J 1990 Sep
PMID:The relationship between 24 hour total heart beats or ventricular arrhythmias and cardiopulmonary function in patients with Duchenne's muscular dystrophy. 170 44

Rigid spine syndrome (RSS) is clinically characterized by progressive limitation of flexion of the spine and contractures of other joints. We herein report a 27-year-old man with RSS, who underwent tracheotomy because of severe restrictive respiratory failure. He had limitation of neck flexion and proximal muscle weakness from early childhood and was diagnosed as having muscular dystrophy at 16 years old. He was suffered from dyspnea and his first tracheotomy was performed at 24 years old. Two years later, the second tracheotomy was done because his respiratory failure was aggravated. He had limitation of spine flexion, scoliosis, but no limited range of elbow and wrist joints movement except mild contracture of ankle joints. Serum CK level was elevated to 590 IU/L. Repeated ECG examinations showed negative T wave but no conduction block. In his family, his parents and brother had neither similar clinical symptoms nor heart block. Chest X-ray study showed elevated diaphragm and enlarged heart shadow (CTR = 65%). Percent VC and FEV1 in sitting position were 14.6% and 100%, respectively. Arterial blood gas analysis showed PaO2 of 34.2 mmHg and PaCO2 of 77.2 mmHg. The density of paraspinal muscle in CT scan was severely decreased. Needle EMG showed myogenic change. Muscle biopsy from left biceps brachii showed myopathic change with mild type 2 fiber grouping. After the second tracheotomy, he was on a respiratory during sleep but mostly off in the daytime. His clinical features are different from Emery-Dreifuss muscular dystrophy because he had no heart conduction block and no family history, but progressive respiratory failure.(ABSTRACT TRUNCATED AT 250 WORDS)
Rinsho Shinkeigaku 1991 Sep
PMID:[A case of rigid spine syndrome associated with severe respiratory failure]. 176 65


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