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Biomedical subjects

F Mechler

Publications and source records attributed to F Mechler.

At least 37 records · Page 2Linked to original sources
PubMed1989

Intracellular free calcium concentration in lymphocytes of patients with muscular dystrophies.

Intracellular free calcium concentration [( Ca2+]i) of human peripheral blood lymphocytes was determined by fluorescence spectroscopic measurements with quin2 in patients with different types of muscular dystrophy and in controls. The [Ca2+]i level in lymphocytes showed a significant increase in adult type (facioscapulohumeral and limb-girdle) muscular dystrophies, while it showed a decrease in Duchenne dystrophy as compared to the values of age- and sex-matched controls. The data obtained suggest an alteration in the effectiveness of the calcium pump in lymphocytes and may represent a sign of generalized membrane damage in these hereditary muscle diseases.

Adult↗
PubMed1989

[Chronic Guillain-Barré syndrome (diagnostic and therapeutic possibilities)].

The authors survey the clinical features and therapeutic results of their patients with chronic inflammatory polyneuropathy. There was an antecedent virus infection in the case history of 5 out of 7 patients. In one patient the chronic polyneuritis developed in association with previously verified SLE, in an other one the autopsy has proved giant lymphadenopathy. The symptoms and signs have evolved slowly in 6 patients, one patient relapsed in 4 months after the first acute attack. The initial and main symptom was the hypotonic muscle weakness of lower extremities. All of the patients mentioned paresthesias and on the lower extremities of 4 patients even hypesthesias of distal type might be revealed. The tendon reflexes were always very slow or absent. In the CSF the classical changes, excess of protein content with normal cell count were found. The electroneurography has shown increased distal latencies and reduced motor and sensory nerve conduction velocities. The steroid treatment and in 2 patients the plasmapheresis were successful, however the recovery was always incomplete and residual disabilities persisted. The electrophysiological and CSF findings did not change parallel with the relief of clinical symptoms and signs.

Adult↗
PubMed1989

Lipid peroxidation and superoxide dismutase activity in muscle and erythrocytes in adult muscular dystrophies and neurogenic atrophies.

Lipid peroxidation (LP) and superoxide dismutase (SOD) activity were determined in erythrocytes and skeletal muscle obtained from patients with limb-girdle and facioscapulohumeral muscular dystrophies, neurogenic atrophies and from age-matched control subjects. Neither lipid peroxidation nor SOD activity in erythrocytes of patients differed from control values. SOD activity and LP in muscle specimens were also normal in types of neurogenic atrophy. Lipid peroxidation in the muscle from patients with adult types of muscular dystrophy had a tendency to be increased. The values were widely scattered, the highest being obtained in the older patients with long duration of disease.

Adult↗
PubMed1988

The significance of simultaneous estimation of serum creatine kinase and myoglobin in neuromuscular diseases.

Serum creatine kinase (CK) and myoglobin (Mb) levels were measured in patients with different neuromuscular diseases, carriers of X-linked Duchenne-type muscular dystrophy and normal volunteers. The highest levels were found in Duchenne dystrophy and both values decreased in parallel with age. In patients suffering from limb-girdle dystrophy the increases in CK activity and Mb concentration were also pronounced. However, there were families with normal and others with elevated CK and Mb levels in facioscapulohumeral dystrophy. In neurogenic atrophies both CK and Mb levels generally increased only slightly. Serum Mb and CK levels have similar values as indicators of muscle damage in primary and secondary skeletal muscle disorders. The serum Mb level helps in the detection of carriers but is not more sensitive than CK measurement.

Adolescent↗
PubMed1988

Cysteine and metalloproteinase activities in serum of Duchenne muscular dystrophic genotypes.

Lysosomal cysteine proteinase (cathepsin B, H, and L) and MMP-7ase muscle metalloproteinase activities were measured in serum from Duchenne muscular dystrophic male patients and their mothers as gene-carriers. The activity of cathepsin H significantly increased in the Duchenne muscular dystrophic (DMD)-hemizygotes group and in the group of DMD heterozygotes. Significant positive correlation was found between the activity of serum creatine kinase (which previously has been proven to be a marker of muscular dystrophy) and of cathepsin L in the DMD-hemizygotes group. Furthermore, correlations were found between the activity of creatine kinase and MMP-7ase or between activity of creatine kinase and cathepsin H in the DMD heterozygotes. The changes in activity of proteolytic enzymes in serum of dystrophic patients can be explained by the elevated proteolytic enzyme activity in dystrophic muscle observed previously.

Adult↗
PubMed1987

Intellectual function in muscular dystrophies.

Intellectual function was studied in 28 boys with Duchenne dystrophy, 12 patients with facioscapulohumeral-type and 10 patients with limb-girdle-type muscular dystrophy. A definite relationship between intelligence level and the type of muscle disease was found. The more severe the genetic damage manifested by the rapidity of progression of muscular dystrophy the more definite the affection of the CNS manifesting as mental deficit. The factors influencing the level and structure of intelligence seem to exert their effect before the manifestation of muscle lesions.

Adolescent↗
PubMed1986

Mitochondrial myopathies. A clinico-pathological study of cases with and without extra-ocular muscle involvement.

The clinical and pathological features of 28 patients with mitochondrial myopathy were reviewed. The cases were divided into a group with involvement of the extra-ocular muscles alone or with limb muscle involvement, and a group with a facioscapulohumeral syndrome or generalised weakness without extra-ocular muscle involvement. Cardiac and central nervous system manifestations occurred particularly in the first group which included six patients with multisystemic features and two with the complete Kearns-Sayre syndrome. Diabetes mellitus occurred in the second group only. Quantitative histology on limb muscle biopsies showed a higher proportion of fibres with abnormal mitochondrial aggregates in the second group. No one type of mitochondrial inclusion or other ultrastructural change was specific for either group of cases. The findings illustrate the clinical heterogeneity of cases of mitochondrial myopathy and the lack of specificity of any of the myopathological changes for different subgroups of patients.

Adolescent↗
PubMed1984

Lipid peroxidation and superoxide dismutase activity in muscle and erythrocytes in Duchenne muscular dystrophy.

Lipid peroxidation and superoxide dismutase activity in muscle and erythrocytes obtained from patients with Duchenne muscular dystrophy (DMD) and controls matched for age and sex were determined. The lipid peroxidation was found to be significantly higher in muscle of the DMD patients but not in erythrocytes. The possible significance of the findings have been considered and discussed.

Child↗
PubMed1982

Ion concentrations in serum and cerebrospinal fluid of patients with neuromuscular diseases.

The Na+, K+, Ca2+, Mg2+, Cl-, and Pi concentrations in serum and lumbar CSF of 17 controls and 62 patients with neuromuscular diseases were determined and the values statistically evaluated. Although alterations in ion concentrations specific to different groups were not observed in either of these biological fluids, the significant increase in serum Pi concentration in Duchenne muscular dystrophy seems to be remarkable. It is suggested that the possible alterations in the ion content of the serum and CSF may contribute additional data to the diagnosis of various neuromuscular diseases.

Adult↗
PubMed1982

Electrophysiological findings including single fibre EMG in a family with mitochondrial myopathy.

Nerve conduction studies, conventional and quantitative concentric needle EMG and single fibre ENG were performed on 5 clinically affected and 7 clinically asymptomatic members of a family with a mitochondrial myopathy manifesting as a facioscapulohumeral syndrome. Abnormalities of nerve conduction present in 3 clinically affected cases were attributed to co-existent diabetes mellitus. Quantitative CNEMG showed a reduction of the mean motor unit potential duration and increased incidence of polyphasic potentials in all 5 clinically manifest cases consistent with a primary myopathic disorder. Similar but less marked changes were found in 6 of the clinically asymptomatic individuals revealing the presence of a subclinical myopathy. Abnormalities on SFEMG consisting of increases in fibre density and/or jitter were present in all the clinically affected and in 5 clinically normal cases. These changes indicate local reorganization of the spatial arrangement of muscle fibres of the motor unit and a disturbance of neuromuscular transmission. The CNEMG and SFEMG findings are discussed in relation to the histopathological changes in 4 cases.

Adolescent↗
PubMed1981

Vascular adrenergic receptor responses in skeletal muscle in myotonic dystrophy.

The pharmacological responses of vascular adrenergic receptors to intravenously administered epinephrine, phentolamine, and propranolol were assessed by measuring muscle blood flow (MBF) changes in the tibialis anterior muscle using the xenon 133 clearance technique and were compared in 8 normal subjects and 11 patients with myotonic dystrophy. In cases with advanced involvement of the muscle, the resting MBF was reduced and was not significantly altered by epinephrine before or after alpha- or beta-receptor blockade. In patients in whom the tibialis anterior muscle was normal or only minimally affected clinically, a paradoxical reduction in the epinephrine-induced increase in MBF was found after alpha blockade by phentolamine, and the epinephrine-induced MBF increase was not completely blocked by propranolol as in the normal subjects. These findings point to functional alteration in the properties of vascular adrenergic receptors in muscle in myotonic dystrophy. While this may be another manifestation of a widespread cell membrane defect in the disease, the possibility that the changes are secondary to the myotonic state cannot be excluded.

Adolescent↗
PubMed1981

Carbohydrate metabolites in the blood and CSF of patients with neuromuscular disorders.

The concentrations of glucose, pyruvate and lactate were determined in the blood and lumbar CSF of 63 patients with neuromuscular disorders and 40 controls. The glucose/lactate and lactate/pyruvate ratios were also calculated, in addition to the cytoplasmic NADH/NAD+ (nicotinamide-adenine dinucleotide-H/nicotinamide-adenine dinucleotide) ratio in the brain. Remarkable deviations from control values were found not only in blood but also in the CSF of patients with different neuromuscular diseases, particularly in Duchenne muscular dystrophy and peroneal muscular atrophy, indicative of disturbance of the carbohydrate metabolism in the central nervous system.

Blood Glucose↗
PubMed1981

Investigations on enzyme activity in the serum and CSF of patients with neuromuscular diseases.

The CPK, aldolase, GOT, GPT, and LDH concentrations in the serum and lumbar CSF of 80 patients with neuromuscular diseases and 20 controls were measured. The value obtained in serum was essentially in agreement with the data in the literature. This is the first publications reporting on regular CSF enzyme examinations in different neuromuscular disorders, particularly the results obtained in neurogenic muscular atrophies, which have certain characteristic features. The LDH activity in CSF was decreased in peroneal muscular atrophy, the GPT concentration in CSF was elevated in spinal muscular atrophy, and the mean activity of CSF aldolase was increased in amyotrophic lateral sclerosis. The simultaneous determination of enzymes in serum and CSF can provide valuable information in the research of certain details of pathomechanisms and thus lead to further improvement of diagnosis.

Alanine Transaminase↗
PubMed1981

Mitochondrial myopathy.

Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete penetrance although the possibility of mitochondrial inheritance could not be excluded in view of the almost exclusive transmission through the female line. Eight members of the family with myopathy also had diabetes mellitus, and 2 of these also had cerebellar ataxia. It is suggested that the myopathy, the cerebellar disorder and the diabetes may all be manifestations of the same underlying metabolic defect.

Cerebellar Ataxia↗
PubMed1980

Adrenergic receptor responses of vascular smooth muscle in Becker dystrophy. A muscle blood flow study using the 133Xe clearance method.

The effect of intravenous adrenaline and of alpha and beta blockade on muscle blood flow in the tibialis anterior muscle of 8 normal subjects and 8 patients with the Becker form of X-linked muscular dystrophy has been assessed using the 133Xe clearance method. Whereas beta receptor responses to stimulation by adrenaline and blocking by propranolol did not differ significantly in the Becker patients and normal controls, the degree of alpha receptor blockade produced by phentolamine was significantly less in the Becker patients, suggesting a quantitative or qualitative abnormality of vascular alpha receptors. This pattern of response was not found in patients with spinal muscular atrophy or polymyositis. The possible significance of these findings is considered.

Adult↗