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At least 595 records · Page 33Linked to original sources
PubMed1998

Subsarcolemmal expression of utrophin in neuromuscular disorders: an immunohistochemical study of 80 cases.

The immunohistochemical expression of utrophin in 80 muscle biopsies from patients with dystrophinopathies and other neuromuscular disorders is reported. All biopsy specimens were routinely studied by a battery of 12 histoenzymatic techniques, and immunohistochemistry was performed for spectrin, three domains of dystrophin and two domains of utrophin. Abnormal utrophin expression was observed in all dystrophinopathic muscles compared with normal controls or biopsy samples from several other muscular diseases. Inflammatory myopathies presented abnormal overexpression of utrophin and an abnormal dystrophin immunolabeling pattern. This overexpression of utrophin appears to be directly related to the decrease in dystrophin. We conclude that the study of utrophin is important for the histological interpretation and differential diagnosis of dystrophin-related muscular disorders.

Adolescent↗
PubMed1982

Ultrasound imaging in the diagnosis of muscle disease.

A comparative study has been done of the static B-scan ultrasound appearance of the quadriceps muscle of the thigh in 60 new patients attending our muscle clinic and in 60 control children. In the control subjects there was good visualization of bone and fascia, which stood out clearly against the background of echo-free muscle tissue. Striking change was found in children with neuromuscular disease. Muscular dystrophies were associated with an increase in the intensity of echo reflected from the muscle substance, with corresponding loss of bone echo. Spinal muscular atrophies and neuropathies also showed an increase in muscle echo along with atrophy of the muscle and increase in depth of subcutaneous tissue. Various congenital myopathies also showed changes. Infants with hypotonia from nonneuromuscular causes had normal scans. Severity of change on the scan did not relate to functional disability, and some children had good function yet strikingly abnormal scans. Three degree of change on the scan correlated with the degree of disruption of muscle architecture on biopsy. Ultrasound imaging has proved to be a useful, noninvasive screening tool in the investigation of children with neuromuscular disease.

Adolescent↗
PubMed1994

Dual-energy X-ray absorptiometry in neuromuscular diseases.

Body components were measured noninvasively in patients with neuromuscular disease by using dual-energy X-ray absorptiometry (DXA), capable of separately analyzing fat, bone, and muscle content. In all patients with muscle atrophy of myogenic or neurogenic origin, muscle mass was markedly reduced. Although all three components (fat, muscle, and bone) were decreased in neurogenic atrophy patients, fat mass alone was increased significantly in myogenic atrophy patients. The fat/muscle ratio (f/m) was significantly higher in myogenic atrophy patients than in the normal controls and neurogenic atrophy patients. The higher f/m ratio in myogenic atrophy patients seems to reflect a marked fat infiltration into atrophied skeletal muscles of patients with primary muscular disease. Using DXA, it is possible to distinguish clearly between myogenic atrophy from neurogenic atrophy, opening the way to an evaluation of the severity of quantitative and qualitative muscle changes in neuromuscular disease.

Absorptiometry, Photon↗
PubMed2000

Vaginal delivery in a woman with limb-girdle muscular dystrophy. A case report.

BACKGROUND: Limb-girdle muscular dystrophy is a muscular disease determined genetically. Few papers have been published on this disorder in pregnancy. Several authors reported on delivery by cesarean section because of the risk of dystocia. CASE: A woman with limb-girdle muscular dystrophy had two pregnancies with normal vaginal delivery and follow-up. No obstetric complications related to the disease occurred. CONCLUSION: A trial of labor is possible in patients with limb-girdle muscular dystrophy if no obstetric contraindications exist.

Adult↗
PubMed1989

[Auricular flutter preceding by several years the discovery of Steinert's disease. 3 cases].

The large frequency of arrhythmias and conduction disorders in the course of Steinert's myotonic dystrophy is well known; most of the time, the muscle disease is already known when the heart disease is discovered. The authors report three cases of young subjects (2, 31 and 35 years) in whom an atrial flutter without obvious etiology preceded by several years (14, 2.5 and 2 years) the diagnosis of muscular disease. On this occasion, the characteristics of the heart involvement in Steinert's disease are reminded: large frequency of atrial and also ventricular rhythm disorders, distalic conduction disorders. Our cases emphasize the importance of diagnosing Steinert's disease by clinical examination, electromyography and neuro-muscular biopsy in front of a rhythm disorder--especially atrial flutter--or an interventricular conduction disorders occurring, without obvious etiology, in a young subject.

Adult↗
PubMed2002

Peptide YY in gastrointestinal disorders.

The changes in PYY in several gastrointestinal disorders and their possible clinical implications are reviewed. The changes in PYY seem to be an adaptive response to alterations in the patho-physiological condition caused by the disease. This becomes evident in gastrointestinal disorders such as diabetes gastroenteropathy, inflammatory bowel diseases, celiac disease, systemic sclerosis and post-intestinal resection state. On the other hand, changes in PYY in chronic idiopathic slow transit constipation appear to be primary and could be one of the etiologic factors of the disease. PYY does not seem to be involved in colorectal carcinoma. Although gastrointestinal dysmotility in neuro-muscular diseases is evident, PYY is not affected. The changes in PYY in gastrointestinal disorders could be beneficial in clinical practice. Thus, in cases where an increase or decrease in PYY is desirable, a diet that increases or decreases PYY synthesis and release can be followed, or a receptor agonist or antagonist can be utilized.

Anorexia↗
PubMedDate not supplied

Laminin and fibronectin distribution in normal and pathological human muscle.

The availability of antisera against collagen and non-collagen proteins of the extracellular matrix has opened new possibilities of studying fibrous infiltration in muscular diseases. We have examined muscle biopsies from 5 controls and 27 patients with various neuromuscular diseases by immunofluorescence and peroxidase-anti-peroxidase. We investigated the distribution of fibronectin and of laminin, a protein present in basement membranes. In normal muscle both were present around blood vessels, axons, muscle spindles and muscle fibres. In addition fibronectin filled the endomysial and perimysial space, the endoneurium and the space between the intrafusal fibres. In pathological muscle laminin distribution was similar to that in normal muscle, but some atrophic fibres appeared to have a thickened contour and irregular profiles were occasionally observed in the absence of histologically demonstrable muscle fibres. Fibronectin was increased in all the conditions with thickened endomysium and perimysium, without displaying any disease-specific character. Findings are compared with the few published observations on fibronectin and collagen types.

Connective Tissue↗
PubMed1984

[Recent clinical knowledge of cytoplasmic substances in myogenic and neuromuscular diseases, especially in muscular dystrophy, Duchenne type].

Up to now there has been no known causal therapy of numerous myogenic and neuromuscular diseases. Among other disorders the genetic muscular dystrophies--especially the malignant Duchenne type, as well as the spinal and neuromuscular dystrophies--cause considerable problems in therapy. Nevertheless there are possibilities of positively influencing the clinical picture and course of the disease by skillful physical training and symptomatic medication. It is sometimes possible, by means of such therapy, to obtain--within limitations imposed by irreparable lesions-stabilization of the clinical state with prolongation of walking ability and amelioration of other motor functions. Nevertheless, such improvement is only transient, because in all patients the process progresses sooner or later. Significant effects were registered of so-called cytoplasmic substances or "biological response modifiers" (particles of protoplasm consisting of nuclei, mitochondria, microsomes and membranes of fresh organic material from healthy young animals and animal fetuses) in an uncommonly large collective of boys with Duchenne muscular dystrophy, as evaluated by follow-up control of the serum enzyme index and creatinine creatine excretion rate. The role of calcium and the possible effect of proteinase-inhibitors are discussed among other pathogenetic aspects. Reference is also made to potential therapeutic effects of cytoplasmic substances in spinal and neuromuscular atrophies on the basis of initial preliminary clinical experience in this field.

Cytoplasm↗
PubMed1978

[Change in heart function in Duchênne de Boulogne myopathies at the severe progressive stage].

Left ventricular function was studied in 15 patients with rapidly progressive Duchenne de Boulogne muscular dystrophy. Only one patient had a previous history of cardiac failure. All patients had typical electrocardiographical changes. Haemodynamic and angiographic investigation was performed in all patients. Three groups of patients were distinguished according to angiographic criteria : group I comprising 7 normal patients. group II comprising 4 "intermediary" patients, and group III of 4 patients with hypokinetic cardiomyopathy. Segmental ventricular dyskinesis was observed in 6 patients. Mitral incompetence was present in 2 cases and mitral valve prolpse in 1 case. All patients had a normal resting cardiac index. Patients in group II and III had end diastolic left ventricular pressures greater than 15 mmHg. An intravenous angiotensin test was performed in 4 patients from groups I and II. Impaired left ventricular function was demonstrated in patients thought to be normal in the basal state. Finally, myocardial involvement in this group of patients runs a parallel course to the duration and severity of the peripheral muscular disease.

Adolescent↗
PubMed1987

[Oral occlusion pressure in scoliosis and neuromuscular syndromes].

Oral occlusion pressure, a neuro-muscular index of the activity of the respiratory centers, was measured in 2 groups of children: one of 43 "healthy" children, in order to establish a predictive equation according to age (Y = 1.23 + 8.30 X A-1) and another of children presenting with respiratory failure, either due to an impairment of the thoracic cavity (10 dorsal scoliosis) or to an impairment of the respiratory muscles (29 children with muscular dystrophy or spinal muscular atrophy). The occlusion pressure increases with the degree of the ventilation deficiency in children with scoliosis. It remains paradoxically normal in children with neuro-muscular disease, irrespective of the ventilation deficiency. In the latter, the respiratory centers activity being considered as normal, this situation would indicate their muscular incapacity to correctly express this activity. It would show a severe muscular deficiency with a high risk of occurrence of respiratory distress accidents.

Adolescent↗
PubMed1986

Magnetic resonance spectroscopy of the musculoskeletal system.

Magnetic resonance spectroscopy can be used to characterize the bioenergetic state of the musculoskeletal system, and several marker compounds related to the tissue's biochemistry have been found to exist. Potential new techniques involving better spatial localization, spectral editing, and examination of nuclei other than phosphorus are in the developmental stage. Their development over the next few years will determine the extent to which MRS will become a universally used medical tool. However, the results with 31P alone guarantee a continued role in the study of muscular disease, peripheral vascular disease, and hypoxia and ischemia of the neonatal brain.

Adolescent↗
PubMed1976

Application of an exponential curve equation for calculation of serum creatine kinase activity.

A four-point scale for determination of serum creatine kinase activity is suggested and the application of an exponential curve equation is proposed for cases with this enzyme activity exceeding 177 I.U. The introduction of this modification permits the activity of creatine kinase to be determined in high-activity serum without diluting the serum before determination since this is a source of error in certain muscular diseases.

Creatine Kinase↗
PubMed2001

Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment?

Apoptosis was detected in different muscular diseases, including severe dystrophin deficiency, but apoptotic mechanisms are not completely described in adult skeletal muscle. Studying patients affected by Duchenne muscular dystrophy (DMD) and by facio-scapulo-humeral dystrophy (FSHD) we showed an increase of apoptotic myonuclei, bax, and bcl-2-positive myofibers. Positive correlation was detected between apoptotic nuclei and bax expression (p < 0.01). Expression of caspases was analyzed by RNase protection. Caspase transcript was not detected in normal skeletal muscles. DMD muscles expressed caspase 8, 3, 5, 2, 7 and Granzyme B mRNAs. Low levels of caspase 6, 3, and Granzyme B transcripts were detected in FSHD patients. Tissue levels of caspase 3 protein significantly correlated with apoptotic myonuclei (p < 0.05) and with bax expression (p < 0.01). In all DMD cases the activity of caspase 3 was increased, while the FSHD samples were heterogeneous. These data indicate that human skeletal muscle fibers. during the dystrophic process, modulate the expression of caspases and that caspase 3 is involved in myofiber cell death. opening new perspective in the pharmacological treatments of muscular dystrophies, such as the use of caspase inhibitors.

Adolescent↗