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Biomedical subjects

L Pavone

Publications and source records attributed to L Pavone.

At least 109 records · Page 6Linked to original sources
PubMed1982

Minicore myopathy.

A case of minicore diseases (MCD) detected in a 10-year-old boy was reported and the nosological entity of this "myopathy" discussed. Its pathogenesis was unknown. Similar findings have been reported in many different conditions of human and experimental pathology. This suggests the possibility that at least some "core diseases" (central-, mini-, multicore myopathies), might not be diseases but just tissue syndromes. The possible relationship between these myopathies and malignant hyperthermia is stressed.

Child↗
PubMed1982

Increased serum phospholipids in epileptic children treated with phenobarbitone.

Plasma lipid concentration and post-heparin lipolytic activity in twenty-two epileptic children treated either with phenobarbitone or sodium valproate were evaluated. An increase of phospholipid was observed in whole blood as well as in the low-density nd high-density lipoproteins in patients undergoing phenobarbitone treatment. No change was found in subjects treated with sodium valproate. The enzyme activities were slightly, but not statistically significantly, increased in the two groups compared with the control subjects.

Child↗
PubMed1981

Treatment of infantile spasms with sodium dipropylacetic acid.

Eighteen infants with infantile spasms were given sodium dipropylacetate at a dosage of 20mg/kg/day. They were clinically examined before treatment, and again after one to three years of therapy. The short-term clinical response was excellent in four patients, good in eight, poor in four and there was no change in two. At follow-up, two patients were clinically normal, but 10 had severe and six had moderate mental retardation. Seven patients still had residual seizures. Since these results do not differ significantly from those obtained with hormonal treatment, the authors suggest using sodium dipropylacetate (which has less frequent and less severe side-effects than adreno-corticotropic hormone) as the only initial drug, and to use hormonal treatment only in unresponsive patients.

Adrenocorticotropic Hormone↗
PubMed1981

Partial trisomy 12q: report of a case and review.

A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a paternal balanced translocation t(2;12)(q37;q24.1), is described. The cytogenetic and clinical abnormalities of the proband are compared with those of four previously reported cases of partial trisomy 12q, two of which also appear to have pure trisomy of segment 12q24.1 leads to 12 qter.

Abnormalities, Multiple↗
PubMed1980

Accidental glibenclamide ingestion in an infant: clinical and electroencephalographic aspects.

The clinical and EEG features of an infant during and after a severe episode of glibenclamide-induced hypoglycaemia are reported, with a 12-month follow-up. The very few cases reported in the literature, together with the present report, suggest that the neurological sequelae of severe hypoglycaemia resulting from ingestion of this drug are due to more patchy involvement of the central nervous system than would be expected from experimental work on hypoglycaemia.

Cerebral Cortex↗
PubMed1980

Familial centronuclear myopathy.

A girl with typical clinical and histologic features of centronuclear myopathy (CNM) is described. The electromyogram was clearly of myopathic type; the motor conduction velocity was reduced. The analysis of the pedigree, in which three other members were similarly affected, suggests autosomal dominant inheritance with low penetrance.

Blepharoptosis↗
PubMed1980

Infantile spasms syndrome in monozygotic twins.

The infantile spasms syndrome appeared on the same day in a pair of monozygotic twins at age 6 months. Clinical, electroencephalographic, and neuroradiological findings during the development of the disease are reported. One of the twins was treated with ACTH and in his case clinical and electroencephalographic improvement was more rapid than in the other who was treated with clonazepam. While the computer tomography scan initially showed in each twin an area of low density in the right fronto-parietal region, this had disappeared in the tomograms obtained about 8 months later.

Adrenocorticotropic Hormone↗
PubMed1980

Increased erythrocytic spermine in Duchenne muscular dystrophy.

Erythrocytes of patients with Duchenne muscular dystrophy have been found to have elevated levels of spermine, a polyamine with a membrane-stabilizing action. Although a specific, increased spermine concentration is an additional biochemical abnormality documenting the involvement of erythrocyte membrane in Duchenne muscular dystrophy. Normal level of spermine were found in female carriers.

Child↗