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At least 613 records · Page 34Linked to original sources
PubMed1987

Pathology of eosinophilic fasciitis and its relation to polymyositis.

The anatomical substrate of eosinophilic fasciitis (EF) was studied in 15 muscle biopsy specimens of this disease, six of which included the dermis and subcutaneous tissue. As controls, 94 postmortem muscle specimens from patients dying of non-muscular diseases were used. Of these 94 specimens, 22 (23.4%) showed practically no deep fascia and 72 specimens showed a single dense bundle of collagen with no distinction between deep fascia and epimysium. The 15 specimens of EF showed thickening and inflammatory infiltration of varying degrees in the deep fascia, epimysium, perimysium, endomysium and also in muscle. We conclude that the anatomical substrate of EF is not confined to the deep fascia, but involves other structures including mysia and muscle itself. Most reported cases of EF in the literature do not even describe muscle. A comparative study of 15 biopsy specimens of polymyositis and dermatomyositis with those of EF revealed only quantitative differences in the histopathological changes of muscle and mysia, inflammatory infiltrate and eosinophilia. We suggest that the diseases are more closely related than previously recognized.

Adolescent↗
PubMedDate not supplied

[Congenital atonic-sclerotic muscular dystrophy (Ullrich disease)].

A case of congenital atonic-sclerotic muscular dystrophy is described, with a combination of proximal joint rigidity and distal hypotonia and hyperextensibility, besides torticollis and kyphoscoliosis. These severe congenital defects usually prevent walking and are followed by chronic respiratory insufficiency, with a fatal outcome in the long term. An autosomal recessive type of heredity is implied. There is not sensory or intellectual impairment, therefore it can be distinguished from other congenital muscular dystrophies, that usually have CNS abnormalities associated.

Follow-Up Studies↗
PubMed1988

Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers.

Two brothers with motor retardation since the first months of life presented waddling ataxic-gait with lumbar lordosis, joint contractures and generalized muscle weakness. Both presented altered cerebellar tests and scanning speech. Creatine kinase, electromyography (EMG) and muscle biopsy pointed to muscular disease while CT scanning and NMR imaging showed cerebellar vermis agenesis. On this evidence we diagnosed the unusual association of vermian agenesis and congenital muscular dystrophy.

Atrophy↗
PubMed1985

Turns analysis (peak ratio) in EMG using the mean amplitude as a substitute of force measurement.

Several modifications of turns and mean amplitude analysis of the electrical activity of muscles have been suggested to avoid measurement of force. Previously we have shown that these modifications may overlook abnormalities if the analysis is performed at high force. A new modification is suggested: analysing the maximal value of the ratio of turns to mean amplitude (peak ratio), using the mean amplitude as an indication of force. It has been applied to a material in which the force was measured. The peak ratio was increased in 82% of 17 patients with myopathy and decreased in 36% of 14 patients with neurogenic disorders.

Adolescent↗
PubMed1986

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile.

We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.

Atrophy↗
PubMed1986

Activation of mitochondrial ATPase as evidence of loosely coupled oxidative phosphorylation in various skeletal muscle disorders. A histochemical fine-structural study.

Combined histochemical and biochemical studies have shown, that the histochemical activity of mitochondrial Mg2+-activated ATPase closely correlates with the coupling state of oxidative phosphorylation (Meijer and Vloedman 1980). Using this histochemical method 646 unselected skeletal muscle biopsies have been investigated. Activation of the enzyme, i.e. loosely coupled mitochondria were present either focally or diffusely expressed in 28% of the biopsies irrespective of the underlying disorder. Most often it was found in mitochondrial myopathies and in progressive muscular dystrophy type Duchenne; in a lesser degree it was also present in neurogenic atrophy and in various other disorders. Ninety two percent of all cases with loose coupling showed mitochondrial proliferations. On the other hand in 20% of all cases with mitochondrial proliferations including 19 cases of diffuse mitochondrial myopathy and 3 of progressive external ophthalmoplegia no activation of the enzyme was found. The results show that loose coupling is closely but not absolutely associated with mitochondrial proliferation, it is present in mitochondrial myopathies but also in various other muscular disorders with different pathogenesis.

Adenosine Triphosphatases↗
PubMed1976

Neurological aspects of sinoatrial heart block.

The symptoms of 100 patients with chronic cardiac sinoatrial disorder were analysed. The most common presenting features were syncope in 34 cases and dizziness in 22 cases. Over three-quarters of the patients had cerebral ischaemic symptoms at some stage of the disease. Diagnostic difficulties are often encountered and are illustrated by two case histories. Although sinoatrial disorder has been described in association with neuromuscular diseases, only one such example was found in this series. The patient had a limb girdle dystrophy with cardiomyopathy and diffuse disease of the cardiac conducting system. Muscle biopsy samples taken from 11 patients with idiopathic sinoatrial disorder were normal showing no evidence of subclinical muscular disease.

Adolescent↗
PubMedDate not supplied

Linkage analyses in tibial muscular dystrophy.

Tibial muscular dystrophy (TMD) is a recently described muscular disease first discovered in a highly consanguineous family in Finland. The pedigree also included patients whose symptoms resembled another phenotype, classical limb-girdle muscular dystrophy. Extensive linkage analysis was carried out in this complex pedigree using 157 highly polymorphic DNA markers. Because of the presence of two phenotypes, several inheritance models were used in linkage analysis studies to allow for the possibility of intrafamilial heterogeneity. The results summarize information from over 10,000 genotypings and exclude several known loci for muscular dystrophies. The findings suggest that TMD may be caused by a mutation in a previously unknown locus for muscular dystrophy.

Female↗
PubMed1979

The technique and applications of muscle biopsy.

The technique of muscle biopsy is described. The precautions in selection, removal and preservation of the biopsied muscle tissue and the need for cooperation between the clinician, surgeon and pathologist in order to obtain the greatest value from the biopsy are stressed. The practical applications of muscle biopsy are presented. Its importance and usefulness in the diagnosis and management of patients with neuromuscular disorders and its potential in research are discussed.

Biopsy↗
PubMed1980

[Orthopedic and trauma aspects of congenital myopathies (author's transl)].

A review on the orthopedic and trauma aspects of the muscular dystrophies and the non-progressive myopathies is given on the basis of personal experience and the relevant literature. Pathomechanism, incidence, treatment modalities of spinal deformities, joint malformations, contractures and systemic bone abnormalities are reviewed too. Spontaneous tendon ruptures are thought to be the complications of non-progressive myopathies.

Humans↗