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Biomedical subjects

R Biancotti

Publications and source records attributed to R Biancotti.

7 recordsLinked to original sources

Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.

We report on a male patient aged 38, affected by a syndrome whose characteristic features include onset in early childhood, slow progression, diffuse muscle weakness, mental retardation and cardiomyopathy. Muscle biopsy showed myopathic changes compatible with muscular dystrophy. However, immunostaining for dystrophin as well as 50 and 43 kDa dystrophin-associated glycoproteins (DAGs) was normal. Genetic analysis suggested that direct involvement of the dystrophin gene was highly unlikely. No other family members were affected. Although the clinical picture is reminiscent of Duchenne/Becker muscular dystrophy, the immunologically and genetically documented lack of dystrophin involvement suggests that this particular syndrome is as yet undescribed.

Adult↗

Acute bilateral epidural hematoma.

A case of acute bilateral epidural hematoma with different onsets is presented. The pathogenesis of the two hematomas is discussed. The importance and the limits of computed tomography scanning in these cases are stressed.

Acute Disease↗

[Treatment of trigeminal neuralgia using controlled differential selective thermorhizotomy].

Personal experience in 35 cases of controlled, partial, selective thermorhizotomy of the trigeminus is referred to in a discussion of its indisputable advantages (abolition of pain, preservation of tactile sensibility, simple method) by comparison with other techniques, and its theoretical basis: selective lesion of the "delta" A and C fibres by exploiting the vulnerability gradient of the nerve fibres to heat.

Adult↗

[Clinical aspects of the prognosis of skull and brain injuries. A study of 108 cases].

An assessment is made of the extent to which age and the degree an seriousness of the initial neurological picture influenced prognosis in a series of 108 subjects with brain injuries treated in the Siena Hospital Intensive Care Unit between 1974 and 1977. Neurological disease was classified according to Posner and Plum. Mortality was 46.2%. In most cases, age tended to exacerbate the neurological syndrome from the outset. It also facilitated the appearance of respiratory sepsis, which aggravated the brian picture in its turn. Age differences, however, seemed to be of lesser prognostic value when the neurological syndrome was very serious from the beginning.

Adolescent↗

[Dexamethasone-21-phosphate in the treatment of cerebral edema. Evaluation of the effects on diuresis, natremia and natriuria].

An evaluation was made of variations in blood and urinary sodium following the administration of 24 mg/day desamethasone-21-phosphate for at least 9 days, starting from admission, as cerebral antioedemigenic therapy in 30 patients with nerve traumas. The changes observed were within normal limits. This absence of interference with the hydro-electrolyte balance is a strong point in favour of the use of the drug in the treatment of cerebral oedema. The exact mechanism of action of this type of glycocorticoid, however, is still unknown.

Adolescent↗