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Biomedical subjects

F Cornelio

Publications and source records attributed to F Cornelio.

At least 73 records · Page 4Linked to original sources
PubMed1990

Increased incidence of certain TCR and HLA genes associated with myasthenia gravis in Italians.

In order to study the immunogenetics of myasthenia gravis (MG), we analysed the TCR and HLA-class II genes from Italian and Californian myasthenic patients. We investigated polymorphisms of the TCR using the full length cDNA probes pGA5 and the pT10 for the alpha and beta chains, respectively. The 6.3 kb and 2.0 kb polymorphic markers, revealed by the PssI enzyme and the alpha chain probe, were shown to be significantly associated with MG. Italian MG patients were HLA typed, and allele frequencies showed a significant association of DR3 and DQw2 with MG. The relative risk calculated for DR3 was 7.4. T-cell proliferative responses to peptides of the AchR alpha chain were also studied and no associations with TCR RFLP analysis or HLA-class II typing were observed.

Amino Acid Sequence↗
PubMed1989

Calcitonin gene-related peptide immunoreactivity at the human neuromuscular junction.

We have studied the presence of calcitonin gene-related peptide (CGRP) immunoreactivity at the human motor end-plate in intercostal muscles from 6 normal subjects. Only a small proportion of end-plates were positively stained in the muscle. Different metabolic states at single motor end-plates or variable rates of CGRP synthesis in separate motoneurones could account for the uneven distribution of CGRP immunoreactivity at the human neuromuscular junction, or else, extremely low amounts of the peptide are below the threshold of sensitivity of the immunofluorescence method used in the present study.

Calcitonin Gene-Related Peptide↗
PubMed1989

[Muscle weakness and intolerance to exercise in mitochondrial myopathies].

Muscle weakness and intolerance to exercise are two of the main features commonly shown by patients affected by mitochondrial myopathies. In order to obtain an objective and quantitative evaluation of muscle weakness and endurance, we studied an evaluation protocol devoted to the assessment of 1) muscle strength by the isokinetic ergometer and 2) the metabolic aspects of exercise by means of Maximal Oxygen Consumption and endurance by a Steady State Submaximal exercise evaluation. The protocol has been applied to the study of patients affected by mitochondrial diseases and proved to be a reliable method to quantitate the defect in the oxidation pathways, either before or during the therapeutic follow-up.

Humans↗
PubMed1988

Chloroquine myopathy and myasthenia-like syndrome.

A young woman on chronic corticosteroid treatment for systemic lupus erythematosus developed a myasthenia-like syndrome 7 weeks after starting chloroquine therapy. Discontinuation of chloroquine allowed symptomatic and immunological remission within 6 months. Ocular symptoms reappeared following a second short course of chloroquine. A motor-point biopsy revealed a vacuolar myopathy with membranous bodies in intramuscular nerves. We discuss the possible role of chloroquine in the pathogenesis of a myasthenia-like syndrome.

Adult↗
PubMed1988

Azathioprine as a single drug or in combination with steroids in the treatment of myasthenia gravis.

Azathioprine (Aza) has been used alone or in combination with steroids for two groups of myasthenic patients. Positive responses were noted in 75% of patients on Aza alone and in 70% receiving the combined regimen. The clinical course of the two groups differed in terms of respiratory crisis and need for plasma exchange. With an appropriate Aza administration schedule side-effects were not a limiting factor to its use. Aza treatment induced a reduction in anti-AchR-antibody level that was correlated with clinical improvement and greatly decreased the need for steroids.

Adult↗
PubMed1988

Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.

We report a new case of MERRF (myoclonus epilepsy with ragged red fibers) syndrome with basal nuclei calcification on the brain CT scan, without hormonal abnormalities, with high CSF protein and hyperlactacidemia, juvenile onset and death at 18 years. Biochemical study of mitochondrial muscle enzymes showed decreased NADH-cytochrome-C-reductase and Succinate-cytochrome C-reductase activity, suggesting a Complex III defect of the respiratory chain. Similar reported cases are reviewed.

Adolescent↗
PubMed1988

Growth hormone evaluation in Duchenne muscular dystrophy.

Growth hormone (GH) release with pharmacological tests and sleep test, somatomedin C and auxological features were studied in 10 patients affected by Duchenne Muscular Dystrophy. GH release in these patients seems to be lower than normal; moreover some of them are of short stature without an evident relationship with GH deficit. The possible significance of the data obtained is discussed, particularly in relation to the clinical course of the disease, and to current therapeutic trials with a GH release inhibitor (mazindol).

Arginine↗
PubMed1988

Anti AChR antibody: relevance to diagnosis and clinical aspects of myasthenia gravis.

227 sera from myasthenic patients were tested for the presence of anti-AChR antibodies (anti-AChR Abs) by mean of a fetal calf receptor (Fc-AChR); 73.5% of cases proved positive with this method. Significant correlations were found between presence of anti-Fc-AChr Abs and various clinical aspects such as: clinical stage and duration of disease; moreover significantly higher than the median titers were found among younger patients (i.e. age less than 40 yrs).

Adult↗
PubMed1987

Needle biopsy for muscle diagnosis and research: an Italian experience.

We report our experience of needle biopsy over the past two and a half, viz. 395 cases. We find that the technique meets the needs of diagnosis and research very satisfactorily. We describe its advantages over open biopsy and recommend it in preference to the latter, provided that the necessary technical skill for processing the sample is available.

Adolescent↗
PubMed1987

Promotion of ambulation of patients with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses.

Seven children with spinal muscular atrophy aged between 20 months and four years, none of whom had ever walked, were fitted with knee-ankle-foot orthoses. All the children could sit unsupported and therefore were at point 9 on the Vignos functional scale. Two children achieved autonomous walking, three assisted walking and the remaining two could stand without aid. During the follow-up period there was no progression of weakness and neither scoliosis nor contractures developed.

Braces↗
PubMed1987

Single donor plasma in therapeutic plasma exchange for myasthenia gravis.

Thirty-seven myasthenic patients were treated with therapeutic plasma exchange (TPE) on different performance schedules using either random or single donor plasma. The two schedules had the same effects in terms of efficacy but single donor replacement gave significantly less side effects in the short and long term. A two exchange procedure on alternate days associated with immunosuppression seems to be an optimal schedule for the treatment of myasthenic patients. A single donor two-exchange on alternate days procedure appears to be safe, useful and can be repeated in patients who need frequent TPE.

Adolescent↗
PubMed1986

Fetal myosin immunoreactivity in human dystrophic muscle.

We report immunofluorescence observations on normal and dystrophic human muscle using an antibody (anti-bF) raised against bovine fetal myosin and specific for fetal myosin heavy chains. In rat skeletal muscle, anti-bF was previously found to react selectively with myosin isoforms expressed during fetal and early postnatal development and in regenerating muscles. Anti-bF stained most fibers in human fetal and neonatal muscle, whereas only nuclear chain fibers of muscle spindles were labeled in normal adult muscle. In muscle biopsies from patients with Duchenne's muscular dystrophy, numerous extrafusal fibers were stained: some were small regenerating fibers, others were larger fibers presumably resulting from previous regenerative events. Fetal myosin immunoreactivity in Duchenne's dystrophy appears to reflect the reexpression of fetal-specific myosin isoforms and provides a new valuable tool for identifying regenerating fibers and following their destiny in dystrophic muscle.

Adolescent↗
PubMed1986

Myoadenylate deaminase deficiency in twins with recessive olivopontocerebellar atrophy.

Two adult non-identical twins with autosomal recessive olivopontocerebellar degeneration (OPCA) had markedly deficient adenylate deaminase in skeletal muscle homogenates. Ischemic exercise failed to increase the blood ammonia, while lactate increased normally. Glutamate dehydrogenase and NADP-dependent malic enzyme activities in muscle mitochondria of both patients were normal. The significance of adenylate deaminase deficiency in these twins with OPCA is discussed.

AMP Deaminase↗
PubMed1986

[Acute myopathy and hyperthyroidism].

A 40 year-old woman with a rapidly progressive proximal muscle deficit of all four limbs had an acute myopathy secondary to hyperthyroidism. Biopsy of the quadriceps femoris revealed signs of non specific muscle impairment with type II fiber atrophy. Treatment with methimazole and correction of the thyroid condition led to rapid disappearance of the disorders. Eighteen months later the clinical status was normal and a second quadriceps femoris biopsy showed that the muscle had normalized.

Acute Disease↗
PubMed1985

Potassium depletion myopathy: a clinical and morphological study of six cases.

Acute myopathy in conditions associated with endogenous or drug-induced potassium loss has been reported. We describe six patients with potassium depletion myopathy (P-DM). The clinical picture included flaccid muscle weakness without sensory loss, myalgia, polyuria, and polydipsia. All the cases had markedly increased serum creatine kinase (CK) levels. The most consistent pathological characteristics were phagocytosis of degenerating muscle fibers plus fiber regeneration. Atrophy of type 2 fibers was observed. Vacuoles and vesicular elements originating from T-tubules were also encountered. The clinical manifestations and morphological changes had reversed after potassium repletion. Both constriction of vascular smooth muscle and cellular energy failure may be pathogenetic factors in P-DM.

Adult↗