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Biomedical subjects

C Angelini

Publications and source records attributed to C Angelini.

At least 181 records · Page 10Linked to original sources
PubMed1989

Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy.

Abnormalities of skeletal muscle have been described in patients with dilated and hypertrophic cardiomyopathy. Eleven patients with dilated and eight with hypertrophic cardiomyopathy without overt symptomatic skeletal myopathy underwent extensive neuromuscular studies. Quantitative electromyography showed abnormal reduction of motor unit potential duration, indicative of myogenic myopathy, in four patients (36%) with dilated and in three (37%) with hypertrophic cardiomyopathy. Values were 21% to 40% (mean 28%) lower than those in age-matched normal control subjects. The presence of normal nerve conduction velocities and of normal motor unit fiber density in all patients indicated lack of neurogenic abnormalities. Skeletal muscle biopsy was performed in five patients with dilated and in four with hypertrophic cardiomyopathy. In all nine patients light and electron microscopy showed central hyporeactive cores, selective atrophy and mitochondrial abnormalities of type 1 fibers but not of type 2 fibers. The degree of impairment of left ventricular function in patients with electromyographic abnormalities was similar to that of those without (percent fractional shortening at two-dimensional echocardiography 21 +/- 9 versus 25 +/- 10, ejection fraction at angiography 39 +/- 13% versus 42 +/- 13% and left ventricular end-diastolic pressure 21 +/- 6 versus 21 +/- 8 mm Hg) as well as symptom duration (9 +/- 4 versus 12 +/- 8 months). Thus, subclinical electromyographic alterations indicative of myogenic myopathy are frequent in patients with dilated and hypertrophic cardiomyopathy and are unrelated to the degree of impairment of left ventricular function. The concomitant histologic alterations, characterized by selective type 1 atrophy, are similar to those observed in congenital and idiopathic myopathies, but different from those described in secondary heart failure.

Adult↗
PubMed1989

Myosin heavy chain composition of muscle fibers in spinal muscular atrophy.

Muscle biopsies from 20 cases of spinal muscular atrophy (SMA), mostly diagnosed as Werdnig-Hoffmann (W-H) disease, were examined for myosin heavy chain (HC) composition. The fetal, fast, and slow heavy chains were characterized in the isolated muscle myosin, and in myosin of single, chemically skinned fibers, by electrophoresis in SDS-6% polyacrylamide gels and by immunoblot techniques, using specific antibodies directed to each main type of myosin HC. The fiber distribution of myosin HC isozymes was further investigated on muscle cryostat sections by an indirect immunofluorescent technique. Fetal myosin HC was found to be expressed in a subpopulation of severely atrophic fibers, alone or together with the slow form of myosin HC. Triangulated fibers of intermediate size contained fetal and fast myosin or fast myosin alone. The hypertrophic fibers were characterized by the predominant expression of slow myosin HC; but in some of these fibers, also low amounts of HC fetal were found to be expressed. These findings are discussed in relation to developmental transitions of myosin heavy chains in human muscle.

Child, Preschool↗
PubMed1989

Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency.

The complex glycerol kinase deficiency (GKD) syndrome is an X-linked recessive genetic disorder. The syndrome often includes a myopathy that is similar histologically to Duchenne muscular dystrophy (DMD). The glycerol kinase (GK) locus is in the Xp21 region in the midportion of the short arm of the X chromosome and is in close proximity to the DMD locus. We have investigated GK activity and subcellular distribution of muscle GK in DMD patients and in a patient with the complex GKD syndrome presenting with myopathy. We found no abnormality of muscle GK specific activity or subcellular distribution in DMD. In the patient with the complex GKD syndrome the specific activity and kinetics of muscle GK were normal, but the subcellular distribution of muscle GK was altered. Liver GK had less than 10% of normal activity and showed markedly altered kinetics. These findings indicate that there is no abnormality of muscle GK activity in DMD muscle. Furthermore, the normal GK activity in an individual with the complex GKD syndrome suggests that muscle and liver GK are genetically distinct. These findings support the concept that the complex GKD syndrome results from small deletions that affect closely linked but separate loci for DMD, GK and adrenal hypoplasia.

Adolescent↗
PubMed1989

Intellectual impairment and cognitive evoked potentials in myotonic dystrophy.

Twenty-seven patients with myotonic dystrophy (MD) and 20 control subjects were tested using neuropsychological and electrophysiological measures. MD patients reported significantly lower scores on the Wechsler Adult Intelligence Scale and the Mini-Mental State Examination. P3 amplitude of auditory event-related potentials was significantly reduced in 14 patients. P3 latency was normal. In 13 patients, P3 was not elicited. Our results clearly show the presence of a significant impairment of cognitive functioning, as assessed by psychometric measures, in more than 50% of MD patients. Discriminant function correctly classified 92% of patients, using event-related potentials and neuropsychological variables.

Adult↗
PubMed1989

The role of life events in the myasthenia gravis outcome: a one-year longitudinal study.

We examined 51 patients suffering from myasthenia gravis (MG) and studied the relevance of stressful life events in relation to the course of the disease. Life events were assessed by means of the Paykel's Interview for Recent Life Events. The stage severity of MG was assessed by means of the Osserman and Genkins scale, twice per patient, at one year intervals. Simultaneously, life events were assessed for the 12 months preceding each of the 2 assessments of MG. Over the 2 MG evaluations 16 patients improved, 6 worsened and in 29 no change took place. Using life events data collected at the first interview, and applying a prospective design, no difference was found between patients who improved and those who remained unchanged or worsened. Life events reported at the second interview, as having occurred during the inter-assessment year, and collected according to a retrospective design, were significantly fewer in improvers than in non-improvers.

Adolescent↗
PubMed1989

Improved diagnosis of Becker muscular dystrophy by dystrophin testing.

We assessed the quantity (relative cellular abundance) and quality (approximate molecular weight) of dystrophin in muscle biopsies from 97 patients with a diagnosis of possible Becker muscular dystrophy. Fifty-four (all male) had dystrophin abnormalities and were deemed to have true Becker muscular dystrophy. The other 43 patients (14 female, 29 male) had no detectable dystrophin abnormalities. Of the dystrophin-verified Becker dystrophy patients, 35% (19/54) had a family history consistent with X-linked recessive inheritance. On the other hand, none of the 43 patients with apparently normal dystrophin had a clear X-linked family history, suggesting that few of these 43 actually had a form of Becker dystrophy. The data suggest that of all patients with a clinical picture consistent with Becker dystrophy but no family history, about 60% will be true Becker patients. The correlation of both the biochemical and clinical data suggests that Duchenne/Becker dystrophy can be divided into 4 clinically useful categories: Duchenne dystrophy (wheelchair at about age 11 years; dystrophin quantity less than 3% of normal); severe Becker dystrophy (wheelchair age 13 to 20 years; dystrophin 3% to 10%); and moderate/mild Becker dystrophy (wheelchair greater than 20 years; dystrophin quantity greater than or equal to 20%). Given the observed clinical variability of Becker dystrophy, it appears that dystrophin analysis is required for accurately distinguishing between Becker dystrophy and clinically similar autosomal recessive myopathies.

Adolescent↗
PubMed1989

[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation].

Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary carnitine deficiency presents itself as muscle carnitine deficiency, systemic carnitine deficiency or a cardiomyopathic subtype. Another abnormality of fatty acid transport is due to inner carnitine palmitoyl transferase deficiency, usually associated with a myoglobinuric phenotype. Long chain, medium and short chain acyl-CoA-dehydrogenase defects are usually associated to Reye's syndrome, encephalopathy, organic aciduria and secondary carnitine deficiency.

Acyltransferases↗
PubMed1988

The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients.

We evaluated the progression of conduction system and myocardial disease in 17 asymptomatic myotonic dystrophy patients by clinical evaluation, electrocardiography, vector cardiography, and echocardiography. An exercise test was done in 10 patients. After 8 years, a follow-up study of 12 of the 17 original patients was done with a similar protocol. During this period, 2 patients died: one of sudden death while the other had acute left ventricular failure. In our first control study, we found EKG abnormalities in 15 of our patients, consisting mostly of conduction defects or pseudonecrotic patterns. In our second control, all patients had conduction system disease and, in addition, 3 of them had premature ventricular beats. One patient developed dilated cardiomyopathy. In 6 patients, structural involvement of the right ventricle was found. We conclude that even in asymptomatic myotonic dystrophy patients a conduction system deficit is present and progresses, and cardiac death may occur in about 12% of these patients.

Adult↗
PubMed1988

Psychiatric disturbances associated with myasthenia gravis.

Seventy-four myasthenic patients (54 F, 20 M; mean age 49.6 years) were evaluated using the diagnostic criteria of the DSM-III in order to investigate the prevalence of psychiatric disturbances in this order. Fifty-one had had thymectomies, of whom 28 females had hyperplasia, two females and five males had involution of the thymus, and 10 females and six males had thymomata. Psychiatric disturbances were observed in 38 subjects (51%), in particular, adjustment disorders with depressed mood and mixed emotional features (19%) (22% including adjustment disorder with anxious mood), affective disorders (13.5%) and personality disorders (18%).

Adolescent↗
PubMed1988

Increases in walking distance in patients with peripheral vascular disease treated with L-carnitine: a double-blind, cross-over study.

A double-blind, cross-over study was designed to evaluate the effects of L-carnitine in patients with peripheral vascular disease. After drug washout, 20 patients were randomly assigned to receive placebo or L-carnitine (2 g bid, orally) for a period of 3 weeks and were then crossed over to the other treatment for an additional 3 weeks. The effect on walking distance at the end of each treatment period was measured by treadmill test. Absolute walking distance rose from 174 +/- 63 m with placebo to 306 +/- 122 m (p less than .01) with carnitine. Biopsy of the ischemic muscle, carried out before and after 15 days of L-carnitine administration in four additional patients, showed that treatment significantly increased total carnitine levels. An additional goal of this study was to ascertain the effects of L-carnitine on the metabolic changes induced by exercise in the affected limb. In six patients under control conditions, arterial and popliteal venous lactate and pyruvate concentrations were determined at rest, when the maximal walking distance was reached, and 5 min after the walking test. Twenty-four hours later, L-carnitine was administered intravenously (3 g as a bolus followed by an infusion of 2 mg/kg/min for 30 min) and metabolic assessments were repeated. Five minutes after the walking test, popliteal venous lactate concentration increased by 107 +/- 16% before treatment and by only 54 +/- 32% (p less than .01) after carnitine. Furthermore, carnitine induced a more rapid recovery to the resting value of the lactate/pyruvate ratio.(ABSTRACT TRUNCATED AT 250 WORDS)

Carnitine↗
PubMed1987

Genetic epidemiology of myotonic dystrophy.

Prevalence rate of myotonic dystrophy (DM) was estimated in a large sample of the Italian population. Segregation analysis of the affected families suggests that subjects showing minor clinical signs, even in the absence of myotonic features, should be considered as bearers of the DM trait. An apparent excess of normal sibs among the offspring of DM subjects may be due to the late onset of the disease and possibly to a partial loss of affected individuals from the sample before diagnosis. Prevalence rate of DM in this study is estimated between 69 to 90 per million inhabitants; accordingly, DM might be the most frequent inherited neuromuscular disorder in human populations.

Adult↗
PubMed1987

Population data on benign and severe forms of X-linked muscular dystrophy.

Epidemiological data on Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) from a large sample of the Italian population are reported. For BMD the incidence rate was found to be 5.5 X 10(-5) live-born males (lbm) and the prevalence rate, 13.1 X 10(-6); the mutation rate was estimated to be about 6.0 X 10(-6). For DMD the incidence and prevalence rates were found to be respectively 26 X 10(-5) lbm and 31.6 X 10(-6). The DMD mutation rate obtained by the Haldane formula was 86.6 X 10(-6) and by the semi-direct method, 65.6 X 10(-6). The results are discussed in the light of possible allelism of BMD and DMD.

Adult↗
PubMed1987

Glucose and ketone body turnover in carnitine-palmitoyl-transferase deficiency.

Most of the patients with carnitine-palmitoyl-transferase deficiency (CPT) show reduced levels of blood ketone bodies in the postabsorptive state. In the present study, we have evaluated ketone body and glucose kinetics in patients with CPT deficiency. Intermediate metabolites of carbohydrate and lipid metabolism have also been studied. Ketone body (KB) turnover was measured by means of sequential intravenous bolus injections of 3-14C acetoacetate and 3-14C D(-) 3-hydroxybutyrate in four patients with liver, platelet, and muscle deficiency of CPT system and in eight normal overnight fasting subjects. 6-3H glucose was also injected, along with 3-14C ketone bodies to measure glucose turnover rate. Three out of four CPT deficiency patients had normal KB turnover, despite a marked reduction in liver CPT activity. Only one subject, with severe defect of CPT activity in liver, showed a significantly reduced, but still present rate of de novo synthesis of acetoacetate and 3-hydroxybutyrate (40 and 51 mumol/m-2/min-1 respectively) in comparison with control subjects (103 +/- 14 and 157 +/- 22 mumol/m-2/min-1). Blood concentrations of dicarboxylic adipic and suberic acids were significantly higher in CPT deficiency patients (0.035 +/- 0.007 and 0.021 +/- 0.005, mmol/L respectively) than in control subjects (0.008 +/- 0.008 and 0.006 +/- 0.003 respectively). Basal glucose turnover was increased in CPT deficiency patients (505 +/- 13 mumol/m-2/min-1) in comparison with normal subjects (433 +/- 18 mumol/m-2/min-1; P less than .01) as well as clearance rates (127 +/- 3 mL/m-2/min-1 and 91 +/- 11 mL/m-2/min-1, respectively; P less than .05).(ABSTRACT TRUNCATED AT 250 WORDS)

3-Hydroxybutyric Acid↗
PubMed1987

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency.

Several clinical entities are associated with disorders of fatty acid oxidation or transfer across the inner mitochondrial membrane. Over 40 cases of the primary carnitine deficiency syndrome have been reported to date and various subtypes have been characterized. This represents a large clinical spectrum. The deficiency of carnitine in muscle is at the basis of a syndrome characterized by muscle weakness and lipid storage myopathy. The systemic form of carnitine deficiency is more generalized and includes recurrent episodes of hepatic encephalopathy as well as lipid storage in muscle, liver and heart. In one subtype, hypoglycemia upon fasting and cardiomyopathy are found. There are also several causes of secondary carnitine deficiency states which are either acquired or associated with inborn errors of metabolism (organic acidurias, defects of acyl-CoA dehydrogenases). Clinically, Carnitine palmitoyltransferase (CPT) deficiency is a rather homogeneous syndrome presenting with recurrent episodes of myoglobinuria provoked by fasting or prolonged exercise. The only exception is an infantile variety associated with severe hypoglycemia and hepatic CPT deficiency. Using malonyl-CoA, a specific inhibitor of CPT-I, we had suggestions in five adult patients with myoglobinuria that CPT-II is lacking in muscle, liver and platelets while CPT-I is above the control level. The enzyme abnormality seems partial and limited to CPT-II or to its binding to the inner mitochondrial membrane.

Acyltransferases↗