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Biomedical subjects

G Rubboli

Publications and source records attributed to G Rubboli.

42 records · Page 3Linked to original sources
PubMed1988

Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin.

As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.

Amyloidosis↗
PubMedDate not supplied

Transient global amnesia as a postictal state from recurrent partial seizures.

A 60-year-old patient had a 3-year history of recurrent memory disturbances. The video electroencephalographic (EEG) recording of one attack showed that the amnesic state, which clinically resembled transient global amnesia, was characterized by a normal EEG tracing followed by electroclinical complex partial seizures. We suggest that "epileptic" transient global amnesia is postictal in nature.

Alpha Rhythm↗
PubMedDate not supplied

Negative myoclonus.

Negative myoclonus (NM) is a motor phenomenon characterized by involuntary jerky movements due to a brief, sudden interruption of muscular activity. This motor disturbance can be observed in a variety of clinical conditions, that can range from physiological NM, occurring when falling asleep or after prolonged exercise, to asterixis, a form of NM observed in patients with toxic-metabolic encephalopathies or with focal brain lesions, or, as a paroxysmal phenomenon, labelled as epileptic negative myoclonus, in epileptic patients. Neurophysiological investigations are essential to diagnose NM and to distinguish it from other motor disorders, such as tremor or positive myoclonus. Furthermore, neurophysiological findings can provide useful information supporting a subcortical or cortical origin of NM. In cortical NM, recent data suggest a role of cortical active inhibitory areas in the generation of this motor phenomenon.

Electroencephalography↗