Biomedical subjects

A Berardinelli

Publications and source records attributed to A Berardinelli.

21 records · Page 2Linked to original sources

PubMed1992

[Ehlers-Danlos syndrome. Description of 2 clinical cases].

The paper describes the clinical symptoms and biochemical tests carried out in two girls suffering from Ehlers-Danlos syndrome. The most typical clinical feature, which is common to both cases, was the presence of skin alterations at the extensor surface level of elbows and, above all, knees. These alterations appeared to be delimited areas with irregular margins where the skin was thin, dry, hyperpigmented, wrinkled, with scanty or absent subcutaneous tissue. Biochemical tests carried out on cutaneous fibroblast cultures excluded the presence type I collagen alterations and an altered secretion of type I or III procollagen secretion. The Authors discuss the attribution of cases presented within the context of the various forms of Ehlers-Danlos syndrome in relation to clinical findings and the results of the biochemical tests.

Adolescent↗

PubMedDate not supplied

Pelizaeus-Merzbacher disease: electrophysiological study of two sibs with the classic form and of their relatives.

We examined two sibs with the classic form of Pelizaeus-Merzbacher disease (PMD) and their relatives. Electromyographic-electroneurographic studies and magnetic stimulation of motor pathways were performed. In both patients we found an absence of compound motor action potential (cMAP) after stimulation of the motor cortex and a normal conduction time by stimulating the cervical roots. Despite reported sparing of the peripheral nervous system in PMD, our conduction study of the tibial nerve revealed a slightly decreased motor nerve conduction velocity in one patient. In both patients the EMG study showed neurogenic findings. The elder sister showed a prolonged central motor conduction time. This study demonstrates abnormalities of motor corticospinal pathways also in PMD relatives suggesting that magnetic stimulation could be useful in detecting "subclinical" abnormalities in this dysmyelinating condition. Furthermore, in accordance with previous studies, we suggest that a slight involvement of the peripheral nervous system could be observed in PMD.

Brain↗

PubMedDate not supplied

Clinical and neurophysiological study in diabetic children and adolescents.

We investigated 82 unselected insulin dependent diabetes mellitus children and adolescents by clinical and electrophysiological evaluation to assess the frequency of diabetic neuropathy and to relate the results to age and height of patients, duration of illness and degree of metabolic control. Clinical abnormalities were found in about 1/3 of patients: these signs of diabetic neuropathy were related to the age and the duration of diabetes but not to the degree of metabolic control. Neurophysiological study showed alterations, especially of sensory nerve conduction. These results were seen to be related to height and age of patients and duration of illness but not to the degree of metabolic control, probably due to the young age of the patients. Our study confirms that diabetic neuropathy is a heterogeneous disorder that may be caused by the interaction of host susceptibility and vascular, metabolic and perhaps environmental components also in diabetic children.

Adolescent↗