[Interaction between active metabolites of vitamin D3 and blood aluminum in chronic uremic patients on dialysis]. / Interazione tra metaboliti attivi della vitamina D3 ed alluminemia nell'uremico cronico in dialisi.

In the present study, the authors show that 1, 25 (OH)2 D3 given to hemodialyzed patients taking Al (OH)3, increased their plasma concentrations of Al. Two mechanism can explain this increase: increased intestinal absorption or decreased tissue storage of Al.

Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy.

Two brothers, 17 and 11 years old, presented with pes cavus, absence of deep tendon reflexes, péripheral vibratory sensory loss, ataxia, tremor, nystagmus, dysarthria and partial myoclonic epilepsy. Electromyography showed severe slowing of motor conduction velocity in the lower extremities and increased distal latencies. A peroneal nerve biopsy showed absence of myelin sheath in most fibres resulting in numerous demyelinated nerve fibres. The father and seven uncles on the paternal side had pes cavus, hammer toes and moderate vibratory peripheral sensory loss. Three of seven siblings had slow motor conduction velocities on EMG. None had EEG abnormalities. Epilepsy started at an early age in both patients with myoclonic jerks of the right arm especially during sleep. EEG recordings were characterized by focal or diffuse epileptiform discharges. In the elder brother a partial motor epileptic status occurred with adversive seizures involving the right side of the body. He died of a broncopneumonia after 3 days of this epileptic status. Histopathological examination showed a severe demyelination of dentato-rubral pathways in the cerebellum and a partial degeneration of Goll and Burdach's tracts in the cervical spinal cord. The nosological classification of this syndrome is discussed and an autosomal dominant inheritance with incomplete penetrance or variable expressivity is suggested.

Myopathological findings in progressive myoclonus epilepsy.

8 patients with progressive myoclonic epilepsy have been studied. Muscle biopsies showed polysaccharide accumulation in branched form, mitochondrial alteration, lipid droplets and lipofucsin bodies. " Muscle Lafora bodies" were present in two cases. A peculiar muscle cytoskeleton appearance has been seen, suggesting an abnormal physico-chemical state of the newly observed filaments that joins Z-bands among them and with the plasma membrane.

Assessment of the value of thymic scan in myasthenia gravis.

Fifty-three patients were investigated by Se methionine scan in order to evaluate the role of the thymus gland in myasthenia gravis. The thymus of 28 of the above patients was examined histologically. Five out of six thymomas were detected with this technique and eight out of twelve hyperplasias were revealed. The above data suggests that Se methionine scan is a useful, innocuous tool for diagnosing neoplasms and abnormal germinal centers in thymus glands.

Progressive supranuclear palsy: report of two cases (author's transl). / Paralisi sopranucleare progressiva considerazioni su due casi

Two cases of progressive supranuclear palsy (PSP) are reported in two men (49 and 75years old) who for one and four years respectively had sudden falling while walking. Rigidity of the neck was an carly feature that prgressed to involve the upper trunk while "subcortical dementia", dysarthria and dysphagia appeared. They had a complete paralysis of vertical eye movements and slow horizontal voluntary eye movements. Oculocephalic reflexes were intact. On caloric stimulation vestibulo-ocular responses were present but only slow saccadic eye movements were observed. With surface electrodes eye movements were studied during the REM phase of sleep. Our patients had both vertical and horizontal eye movements during paradoxal sleep. This findings is in keeping with a supranuclear ophtalmoplegia, and may help in antemorten diagnosis of PSP.