A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
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Adolescent↗
Biomedical subjects
G Pizzamiglio
Publications and source records attributed to G Pizzamiglio.
Auditory sustained attention is a marker of unilateral spatial neglect.
The relationships between performance on a non-spatially-lateralized measure of sustained attention and spatial bias on tests sensitive to unilateral neglect were considered in a group of 44 patients with right hemisphere lesions following stroke. As predicted from earlier studies showing a strong association between unilateral spatial neglect and sustained attention, performance on a brief and monotonous tone-counting measure formed a significant predictor of spatial bias across a variety of measures of unilateral visual neglect. This study provides further evidence for a very close link between two attentional systems hitherto regarded as being quite separate, namely a spatial attention system implicated in unilateral neglect and a sustained attention system. A close connection between these two systems was predicted by Posner, who argued that the right hemisphere-dominant sustained attention system provides a strong modulatory influence on the functioning of the lateralized posterior attention system.
Acoustic Stimulation↗
Visual evoked potentials in NIDDM: a longitudinal study.
In order to assess the possible progression of neurological abnormalities over time and the value of visual evoked potential alterations in predicting stability and severity of diabetes-related optic pathway disease, a longitudinal study in non-insulin-dependent diabetic patients was performed. Neurological examination, visual evoked potentials with pattern reversal, motor and sensory nerve conduction velocities and metabolic control were studied in 18 non-insulin-dependent diabetic patients and in 35 normal control subjects at baseline and again after 4.6 +/- 0.8 years (range 4-6). At the first recording the peak P100 wave latencies were significantly delayed in the diabetic patients compared with the control subjects; signs of peripheral neuropathy were detected in five patients, clinical in three and in two there was only neurophysiological alteration without clinical signs. The second recording revealed no significant alterations of P100 latencies in patients compared with baseline, but the number with clinical signs and/or neurophysiological alterations with no clinical signs of peripheral neurological disease was increased to seven. In conclusion, we observed that visual evoked potential alterations were stable over time whereas peripheral neurological disease progressed and correlated positively with metabolic control.
Case-Control Studies↗
Phenotype/genotype correlation and cystic fibrosis related diabetes mellitus (Italian Multicenter Study).
BACKGROUND: A genotype/phenotype correlation between early onset cystic fibrosis related diabetes (CFRD) and the N1303K mutation of the CF gene was previously identified in a small series of 28 CFRD patients, out of 313 CF patients. PATIENTS AND METHODS: In order to confirm the observation, data of 141 CFRD patients out of 1,229 CF patients attending 14 Italian CF centers were collected. All patients were older than 10 years and had been genotyped. RESULTS: DeltaF508 was the most frequent mutation (147/282 alleles: 52%) and N1303K the second most frequent mutation (18/282 alleles: 6.3%) in CFRD patients, without significant difference as compared with CF patients without DM (52% vs 48.6% and 6.3% vs 5.1%, respectively). W1282X was the third most frequent mutation in CFRD patients, more frequent than in CF patients without DM (5.3% vs 2%; p<0.001). CONCLUSIONS: Unlike the previous study, we did not find a higher frequency of the N1303K mutation in CFRD patients; moreover, data from this large CF series showed a significant correlation between the W1282X mutation and CFRD.
Adolescent↗