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At least 685 records · Page 38Linked to original sources
PubMed2006

Signaling pathways in skeletal muscle remodeling.

Skeletal muscle is comprised of heterogeneous muscle fibers that differ in their physiological and metabolic parameters. It is this diversity that enables different muscle groups to provide a variety of functional properties. In response to environmental demands, skeletal muscle remodels by activating signaling pathways to reprogram gene expression to sustain muscle performance. Studies have been performed using exercise, electrical stimulation, transgenic animal models, disease states, and microgravity to show genetic alterations and transitions of muscle fibers in response to functional demands. Various components of calcium-dependent signaling pathways and multiple transcription factors, coactivators and corepressors have been shown to be involved in skeletal muscle remodeling. Understanding the mechanisms involved in modulating skeletal muscle phenotypes can potentiate the development of new therapeutic measures to ameliorate muscular diseases.

Anabolic Agents↗
PubMed1989

[Specific cardiomyopathy caused by high dose cyclophosphamide immediately after bone marrow transplantation].

An 11-year-old girl with CML in chronic phase was treated with allogeneic bone marrow transplantation (BMT). She had had no episode of heart disease, and her chest roentgenogram and electrocardiogram were within normal ranges. She had no anthracycline, but 120 mg/kg (2.01 g/m2/d x 2 days) of cyclophosphamide (CY) for conditioning of BMT. She suffered from an acute heart failure on 14 days after BMT and died 2 days later. Autopsy revealed "specific heart muscular disease" with apparent degeneration and necrosis of heart muscle cells. More than 30 fatal cases of CY cardiotoxicity after BMT have been reported, and most patients developed acute heart failure within 10 days after CY dosing. Goldberg et al. reviewed 14 cases of CY cardiotoxicity, and considered more than 1.55 g/m2/day to be the critical doses for the onset of fatal cardiomyopathy. This case was considered to be first case in Japan. CY cardiomyopathy is an early fatal complication of BMT when CY used for conditioning. The dosing schedule may be considered.

Bone Marrow Transplantation↗
PubMed1978

Malignant hyperthermia.

Malignant hyperthermia is now recognized as a distinct entity in anesthetic practice and can be considered as a pharmacogenetic disease of obscure etiology occuring in man and pigs with a dominant inheritance. A close association with myopathy has been noted. Commonly used muscle relaxants or anesthetic drugs can act as triggering agents in genetically susceptible patients, who develop a real hypermetabolic state, characterized by a rapid rise in body temperature, muscular rigidity, tachycardia and tachypnoea, cyanosis and severe respiratory and metabolic acidosis, the lethality being about 60%. Other clinical, biochemical and histopathological features of this condition are described. The prevention and early diagnosis of this syndrome is very important. Therefore, it is necessary in the preanesthetic evaluation, to obtain information from the patient, with regard to previous anesthetic experiences, and to have a more exact anamnesis in patients with muscular diseases or with other members of the family under suspicion. Some screening methods are described. The prognosis of malignant hyperthermia depends on an early diagnosis. Although the incidence is, fortunately, small, this condition is sufficiently significant and acute in nature to require that anesthesiologist be aware of its clinical pathophysiology and prepared to recognize and treat it promptly. Therefore body temperature should be controlled continuously in all anesthetized patients, particularly in the younger age group and especially in those in which symptoms of muscle rigor have been observed particularly after application of succinylcholine and halothane. A regime of treatment is suggested, based on current concepts of the pathogenesis. It consists in establishing effective and rapid cooling, reversal of tissue hypoxia and correction of respiratory and metabolic acidosis and hyperkalemia. Specific therapy with dantrolene sodium may prove to be an answer to this serious problem.

Anesthetics↗
PubMed1999

Myotonic dystrophy: a report of two cases from one family.

The authors report two cases of a brother and sister who suffered myotonic dystrophy and had a family history of the disease. Muscular dystrophy--more severe in the boy and mild in the girl--was the clinical manifestation. EMG findings corresponded to a primary muscle disorder, coinciding with myotonic activity in case 1. The genealogical study of four generations of this family revealed a descent pattern of inheritance. Anticipation--a characteristic phenomenon of the disease expressed in the occurrence of the disorder at earlier ages and in more severe forms in the successive generations--was also observed.

Child↗
PubMed2002

[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].

Hauptmann-Thannhauser muscular dystrophy is characterized by the clinical triad of early-onset contractures of elbow, Achilles tendons, and cervical spine, slowly progressive humeroperoneal muscle wasting and weakness, and life-threatening cardiac involvement with conduction blocks manifesting in the third decade. Hauptmann-Thannhauser muscular dystrophy is due to mutations in the LMNA gene affecting the nuclear envelope proteins lamin A and C. We present a 16-year-old German boy with typical muscular involvement and contractures and typical course of Hauptmann-Thannhauser muscular dystrophy due to the novel missense mutation R401C. The data of this family suggest a lower penetrance of muscular and especially cardiac symptoms than expected. Autosomal-dominant Hauptmann-Thannhauser muscular dystrophy and X-chromosomal Emery-Dreifuss muscular dystrophy are not clearly distinguishable by phenotypic criteria. Other muscular diseases associated with contractures and congenital or childhood onset are reviewed.

Adolescent↗
PubMed2003

Hyperproliferation of synapses on spinal motor neurons of Duchenne muscular dystrophy and myotonic dystrophy patients.

Synapses on the motor neurons of patients with Duchenne muscular dystrophy (DMD) and myotonic dystrophy (MD) were studied immunohistochemically using antibodies against synaptobrevin and synaptophysin. Some motor neurons showed hyperproliferation of synapses on the soma and the proximal dendrites. Hyperproliferated synapses were non-cholinergic, because they were not identified with antibodies against vesicular acetylcholine transporter. Regeneration of motor nerve terminals in patients with muscular diseases may affect reorganization of the subsets of central synapses.

Aged↗
PubMed2006

The application of NMR-based metabonomics in neurological disorders.

Advances in postgenomic technologies have radically changed the information output from complex biological systems, generating vast amounts of high complexity data that can be interpreted by means of chemometric and bioinformatic methods to achieve disease diagnosis and prognosis. High-resolution nuclear magnetic resonance (NMR) spectroscopy of biofluids such as plasma, cerebrospinal fluid (CSF), and urine can generate robust, interpretable metabolic fingerprints that contain latent information relating to physiological or pathological status. This technology has been successfully applied to both preclinical and clinical studies of neurodegenerative diseases such as Huntington's disease, muscular dystrophy, and cerebellar ataxia. An extension of this technology, (1)H magic-angle-spinning (HRMAS) NMR spectroscopy, can be used to generate metabolic information on small intact tissue samples, providing a metabolic link between metabolic profiling of biofluids and histology. In this review we provide a summary of high-resolution NMR studies in neurodegenerative disease and explore the potential of metabonomics in evaluating disease progression with respect to therapeutic intervention.

Animals↗
PubMed1993

Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II.

A case is described of late-onset glycogenosis type II presenting with an isolated rise in serum transaminase levels. Histological, histochemical, ultrastructural and biochemical examinations performed on muscle biopsy showed the typical laboratory features of late-onset glycogenosis type II, which was diagnosed more than four years before the first appearance of disease-related signs and symptoms. A heterozygote status for the same defect was also demonstrated by enzyme assays in both parents, thus confirming the autosomal recessive mode of inheritance of the disorder. Even though an elevation in transaminases and other serum enzymes of possible muscle origin has been previously described as a diagnostic clue in some unsuspected muscular diseases in childhood, as far as we know no other patient with a sporadic form of glycogenosis type II has been identified when still completely asymptomatic. The possibility of silent primary metabolic diseases and myopathies should be carefully considered when evaluating children with persistently elevated serum transaminases, even in the absence of suggestive anamnestic, familial and physical findings, in order to obtain an early diagnosis and to provide an appropriate genetic counselling.

Age of Onset↗
PubMed2004

Nuclear factor-kappaB: its role in health and disease.

Nuclear factor-kappaB (NF-kappaB) is a major transcription factor that plays an essential role in several aspects of human health including the development of innate and adaptive immunity. The dysregulation of NF-kappaB is associated with many disease states such as AIDS, atherosclerosis, asthma, arthritis, cancer, diabetes, inflammatory bowel disease, muscular dystrophy, stroke, and viral infections. Recent evidence also suggests that the dysfunction of NF-kappaB is a major mediator of some human genetic disorders. Appropriate regulation and control of NF-kappaB activity, which can be achieved by gene modification or pharmacological strategies, would provide a potential approach for the management of NF-kappaB related human diseases. This review summarizes the current knowledge of the physiological and pathophysiological functions of NF-kappaB and its possible role as a target of therapeutic intervention

Animals↗
PubMed2004

Hereditary muscular dystrophy in MDX mice as a homologous model for introduction of cell technologies in the treatment of progressive muscular dystrophies in humans.

Life-time monitoring of the main clinical and laboratory manifestations of hereditary muscular dystrophy in mdx mice confirmed the presence of mutation in exon 23 of dystrophin gene and the absence of this protein in skeletal muscles of mutant animals. Muscular dystrophy in mice was similar to human progressive muscle disorder, which allows the use of this model for the development of cell technologies for the treatment of hereditary muscular diseases in humans.

Animals↗
PubMed2002

[Ion channel abnormalities ("channelopathies") in neurologic diseases].

THE ROLE OF IONIC CHANNEL DYSFUNCTION: During various neurological diseases has been evoked for many years on electro-physiological data. Molecular biology has led to great progress in neurology, and can be considered "functional" since it is surpasses the classical anatomo-clinical methods. IONIC CHANNEL DYSFUNCTION: Can be determined genetically, resulting from the mutation of a gene code of a channel sub-unit. CHANNELOPATHIES ARE RESPONSIBLE: For muscular diseases (myotonia, familial periodic paralysis, malignant hyperthermia and congenital myasthenia), but also for central nervous system disorders such as familial hemiplegic migraine, hereditary paroxystic ataxia and certain forms of Mendel's law hereditary epilepsy. ACQUIRED IONIC CHANNEL DYSFUNCTION: Resulting from auto-immune aggression is implied in diseases such as Lambert-Eaton's myasthenic syndrome and Isaac's neuromyotonia syndrome. It probably plays a part in the clinical, and particularly the sensitive expression (paresthesia and pain) of some peripheral neuropathies and certain central nervous system affections, such as multiple sclerosis.

Humans↗
PubMed1953

Hyperinsulinism and neuromuscular disorders; a consideration of the association of pancreatic adenoma with wasting states.

Five cases, one reported herein, have been described in which progressive generalized muscle wasting, muscle fasciculations, increased myotatic irritability, and progressive motor disability were in evidence. In all of these cases, a pancreatic islet cell adenoma was present. In four of them arrest of the symptoms of muscular disease followed upon surgical removal of the islet cell adenoma. In the other case the tumor was not observed until postmortem examination, and in that case there was also histologic evidence of widespread and severe degeneration in the anterior horn cells of the spinal cord. The observations give rise to conjecture upon the possibility that endocrine dysfunction plays a part in the genesis of progressive muscular atrophy.

Adenoma↗