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

We followed eight patients with Duchenne-type muscular dystrophy for an average of 39 months after initiation of noninvasive intermittent ventilatory assistance using body ventilators. After one to three months of nocturnal use averaging 8 h, mean daytime PaCO2 fell from 63 +/- 2 to 45 +/- 3 mm Hg. At late follow-up, PaCO2 remained stable at 47 +/- 4 mm Hg, but vital capacity fell 33 percent compared with the initial value and the average duration of ventilator use had increased to 18 +/- 2 h daily. Three patients died and five survived; two continued using negative pressure ventilators and three had tracheostomies placed for administration of positive pressure ventilation. We conclude that noninvasive intermittent ventilatory assistance effectively reverses hypoventilation and symptoms in patients with late-stage Duchenne muscular dystrophy, but pulmonary function continues to deteriorate necessitating longer periods of ventilation, and often tracheostomy, within a few years.
 ...
PMID:Long-term follow-up of nocturnal ventilatory assistance in patients with respiratory failure due to Duchenne-type muscular dystrophy. 210 94

The form of dento-orofacial complex and masticatory muscle function of monozygotic twins with Duchenne type muscular dystrophy were investigated. They had no environmental difference. Morphological analysis were performed on the dental casts and cephalograms. EMG recordings were derived from the bipolar surface electrodes on the masseter muscle and the anterior belly of digastric muscle on the left side. Each consisted of the data for three years. Results obtained are as follows: 1) Based on the average data, these patients showed an elongated dental arch in the maxilla and mandible, which might be caused by enlarged tongues. There were little difference in the tooth and dental arch sizes between them. 2) Cephalometric findings indicated that the elder brother showed a clockwise rotation of the mandible with larger gonial angle than the younger brother. Both of them showed a larger gonial angle based on the mean values. 3) Analysis of EMG recordings revealed an elongated silent period induced by teeth tapping and chin tapping, and a variable masticatory rhythm compared with that of normal sample. Moreover an annually increased imbalance between masseter muscle and digastric muscle was evident, which were parallel to the change of the blood creatine kinase value. Differences in the form and function of orofacial complex between them might be caused by their polygene heredity and the large size of DMD gene (XP 21).
 ...
PMID:[Morphological and functional analysis of dento-orofacial complex in monozygotic twins with Duchenne type muscular dystrophy]. 213 98

The plasma concentration of atrial natriuretic peptide was measured in patients with muscular dystrophies to study its relationship with congestive heart failure. In patients with Duchenne muscular dystrophy, the plasma atrial natriuretic peptide concentration was 35.5 +/- 3.3 pg/mL (mean +/- SE), which was higher than that in age-matched normal subjects (9.8 +/- 0.6 pg/mL). It increased with progression of disability and showed significant correlations with the cardiothoracic ratio and the ratio of the preejection period to the left ventricular ejection time. In patients with other types of muscular dystrophy, the plasma atrial natriuretic peptide concentration showed no significant change. Immunohistochemical examination demonstrated many atrial natriuretic peptide-positive cells in atrial muscle of an autopsied patient, indicating preservation of the peptide until the end stage. These findings suggest that measurement of the plasma atrial natriuretic peptide concentration is useful for evaluating heart failure in patients with Duchenne muscular dystrophy.
 ...
PMID:Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy. 214 80

One of female MZ twins presented with muscular dystrophy. Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD). However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy. With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother. The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8. Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE). Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount. Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers. These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin. Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function. Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression. On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.
 ...
PMID:Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. 218 Feb 86

Dystrophin, the protein encoded by the Duchenne muscular dystrophy (DMD) gene, exists in a large oligomeric complex. We show here that four glycoproteins are integral components of the dystrophin complex and that the concentration of one of these is greatly reduced in DMD patients. Thus, the absence of dystrophin may lead to the loss of a dystrophin-associated glycoprotein, and the reduction in this glycoprotein may be one of the first stages of the molecular pathogenesis of muscular dystrophy.
 ...
PMID:Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. 218 35

This report documents the results of an integrated biochemical and immunocytochemical investigation into the expression of dystrophin (the protein product of the Duchenne muscular dystrophy gene) in muscle biopsies from 226 patients. It is the first study in which dystrophin has been analysed on blots and on tissue sections in such a large number of patients using the same (monoclonal) antibody. The 140 patients with Xp21 muscular dystrophy who were included in this study represent a continuous spectrum of disease severity and this range was reflected in the heterogeneity of dystrophin expression which was observed with respect to abundance, size and the pattern of tissue localisation. Approximately 40% of biopsies obtained from patients diagnosed as having Duchenne muscular dystrophy (DMD) contained isolated clearly positive fibres and a further 20% had very weak labelling on a large number of fibres. Biopsies from patients with Becker muscular dystrophy (BMD) showed labelling patterns which varied from weak labelling on the majority of fibres to clear labelling on all fibres. Typically, however, there was inter- and intra-fibre variation in labelling intensity. Approximately 85% of the 52 BMD and 54 DMD patients who had unequivocal labelling on blots demonstrated a protein of abnormal size. The remaining 15% had a protein of normal size but reduced abundance. Overall, the estimated abundance of dystrophin correlated well with clinical assessments of the disease severity expressed in patients. We conclude that dystrophin analysis is an essential and dependable technique for the differential diagnosis of patients with Xp21 muscular dystrophy.
 ...
PMID:Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. 220 76

A new type of X-linked muscular dystrophy is described in a family in which 7 men had boyhood onset of progressive dystrophy involving muscles of the shoulder and back but not the calves or face. The scapula-back muscles are affected, but the calf muscles are normal. All patients are still able to walk. The oldest patient is now 37 years old. The muscular dystrophy has been specified by electromyography, pathologic tissue microscopic examination, electron microscopic study, and elevated CK. This type of muscular dystrophy has not been reported previously.
 ...
PMID:New type of X-linked progressive muscular dystrophy involving shoulder girdle and back. 224 87

We examined serum cardiac myosin light chain I (LCI), serum creatine kinase (CK) levels and left ventricular function in patients with muscular dystrophy and secondary cardiac involvement. LCI levels were determined by a two-site immunoradiometric assay method in 25 patients with muscular dystrophy and 10 normal subjects. This study included 15 patients with Duchenne muscular dystrophy (DMD), 8 patients with Fukuyama type congenital muscular dystrophy (FCMD) and 2 sisters with non-Fukuyama type congenital muscular dystrophy (nFCMD). We measured the value of left ventricular fractional shortening (FS) using echocardiography. All patients with DMD and FCMD showed moderate or severe skeletal muscle weakness. The mean values of LCI were significantly higher in patients with DMD (11.0 +/- 8.3 ng/ml, p less than 0.01) and in patients with FCMD (1.6 +/- 1.4 ng/ml, p less than 0.05) than in normal subjects (0.3 +/- 0.2 ng/ml). In patients with DMD, LCI level correlated closely with CK level (r = 0.81, p less than 0.01) but not with FS (r = 0.35, n.s.). In patients with FCMD, LCI level correlated significantly with CK level (r = 0.75, p less than 0.05) but not with FS (r = 0.44, n.s.). Close correlation between LCI and CK levels was thought to result from the cross reaction between cardiac LCI and myosin light chains of skeletal muscle in the assay method we used. Two siblings with nFCMD showed mild skeletal muscle weakness. A 22-year-old sister with mild left ventricular dysfunction (FS = 0.41) showed high level of CK (4794/U/L) and mild elevation of LCI (7.3 ngml).(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:[Clinical significance of serum cardiac myosin light chain I in patients with muscular dystrophy]. 225 17

This study compared the patterns of communication and use of professional support systems of Irish and American families with sons with Duchenne muscular dystrophy (DMD). Structured interviews were used with the parents of 34 Irish boys and 21 American boys attending the muscular dystrophy services of Central Remedial Clinic, Dublin, and Children's Hospital, Boston. A matched control group was interviewed in each culture to compare use of professional support systems. Difficulties in communicating about DMD with their spouses and with their affected sons were reported by significantly more Irish parents than by their American counterparts. More Irish parents had never spoken about DMD with their affected sons. American DMD families reported significantly more contact with professional support systems than did the Irish families. Factors which may contribute to these cultural differences are discussed.
 ...
PMID:Cultural differences in family communication about Duchenne muscular dystrophy. 226 6

Enzyme histochemistry and acridine orange (AO) fluorescence techniques were used for studying muscle biopsy specimens of progressive muscular dystrophy in 75 cases. Five characteristic pathologic patterns for diagnosis were summarized. The level of serum CPK was be used as a marker for judging necrotic fibers. The result of AO staining showed that the number of regenerating IIc type fibers in DMD increased by 5-20%. This indicates that the numbers of the IIc type fibers are also related to necrotic fibers. The authors consider that the regenerative course is a compensatory repair reaction on necrotic fibers. But clinically, the speed of necrosis development is much higher than that of regeneration. Thus, enhancing the synthesis of proteins and promoting the capacity of regeneration should be considered as a new approach to effective therapy for DMD patients.
 ...
PMID:[Pathohistology of progressive muscular dystrophy and the relationship between necrotic and regenerative fibers]. 227 5


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>