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Biomedical subjects

G Gambina

Publications and source records attributed to G Gambina.

15 recordsLinked to original sources
PubMed2002

The role of somatosensory feedback in dystonia: a psychophysical [correction of psycophysical] evaluation.

Ten patients with idiopathic dystonia and twelve healthy controls were tested with pairs of non-noxious electrical stimuli separated by different time intervals. Stimuli were delivered (i) to the pad of the index finger (same-point condition), (ii) to the pad and to the base of the index finger (same-finger condition) and (iii) to the pad of the index and ring fingers (different-fingers condition). Subjects were asked to report if they perceived single or double stimuli in the first condition and synchronous or asynchronous stimuli in the second and third conditions. STDTs were significantly higher in dystonic than control subjects in all three conditions. Results extend current knowledge on deficits of somesthetic temporal discrimination in dystonia by showing that temporal deficits are not influenced by spatial variables.

Adult↗
PubMed1999

Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease.

Besides apolipoprotein E (APOE) polymorphism, whose association with Alzheimer's disease (AD) has been confirmed in most of the numerous population samples studied, other markers have been investigated. In most cases the association firstly described was not confirmed in subsequent works. Since it is important to examine these associations in as many populations as possible, we investigated APOE, APOC1, APOC2, alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) polymorphisms in a series of elderly patients with late-onset sporadic AD from Northern Italy and in a sex and age-matched control group. We could not confirm the significantly higher frequency of the ACT*A allele among carriers of APOE e*4 allele described elsewhere, although a similar trend was observed. The APOC2 and the PS-1 distributions were similar between patients and controls. However, we observed a significant difference in the genotype and allele frequencies of APOE and APOC1: patients had higher e*4 and C1*2 allele frequencies. This finding confirms the important role for APOE in AD occurrence. In addition, APOC1 seems to be an interesting marker because, though in strict linkage disequilibrium with APOE, it seems to play an independent role in AD risk. In contrast to previously reported data, plasma apoE concentrations were similar in patients and in controls. An interaction between APOE and APOC1 polymorphisms and apoE levels was observed in patients: subjects carrying the APOE E3/E2 or the APOC1 2-2 genotype have higher apoE concentrations than those who do not.

Aged↗
PubMed1998

The spatial distribution of visual attention in hemineglect and extinction patients.

We studied the visual field distribution of speed and accuracy of manual responses to small brief light flashes, in patients with left hemineglect or extinction resulting from right hemisphere vascular lesions and in brain-damaged and healthy control subjects. All patients with right hemisphere lesions showed a greater impairment in both the speed of response and the detection rate in the contralesional than in the ipsilesional hemifield. This interfield difference increased with the eccentricity of stimulus presentation and was especially pronounced in neglect patients who showed a paradoxical increase in speed of response and detection rate at increasingly larger eccentricities in the ipsilesional hemifield. We hypothesize that both the contralesional slowing down and the ipsilesional speeding up of the response depends upon an exaggerated gradient of attention towards the ipsilesional hemifield. To assess whether these abnormalities concern automatic or controlled attentional processes, in a second experiment, we manipulated the predictability of the side of the stimulus presentation by using blocked rather than randomized stimulus presentations. This resulted in a speeding up of responses in both hemifields thus showing that the patients were able to focus attention to the side of stimulus presentation voluntarily. However, there was no modification of the contra-ipsilesional differences which, therefore, are likely to be related to abnormal automatic processes rather than controlled attention.

Aged↗
PubMed1996

Familial cavernous hemangioma with atypical neuroimaging.

Three members of the same family were studied, all of whom had multiple intracerebral cavernous angiomas for which a dominant autosomal inheritance was hypothesised. The proband suffered from headaches, and physical examination revealed evident right hemiparesis. The second case started with a hemorrhagic cerebral stroke and the third was asymptomatic on neurological examination. Nuclear magnetic resonance (NMR), performed in two of the three cases, showed lesions whose number and extent were not radiologically characteristic of cavernous angioma. A cerebral biopsy of the proband enabled the diagnosis to be made. Despite the recent introduction of NMR, the nosological classification of familial forms can be difficult when the radiological lesions are atypical. In such cases, cerebral biopsy is not only a valid diagnostic aid, but is also indispensable for obtaining adequate genetic information.

Brain↗
PubMed1996

Implicit redundant-targets effect in visual extinction.

Patients with left visual extinction as a result of unilateral right hemisphere damage were tested on a redundant-targets effect paradigm (RTE). LED-generated brief flashes were lateralized either to the left or to the right visual hemifield or presented bilaterally. Subjects were asked to press a key as fast as possible following either unilateral or bilateral stimuli and immediately afterwards to report on the number of stimuli presented. As previously found in normal subjects, bilateral stimuli were responded to faster than unilateral ones, and this was evidence of a RTE. The main thrust of this study was that extinction patients showed a RTE not only for correctly perceived bilateral stimuli but also in trials in which they extinguished the stimulus on the field contralateral to the lesion. This result is compatible with a preserved processing of the extinguished input at least up to the stage at which it may interact with the input from the normal side to yield a speeded motor response. Interestingly, the implicit redundancy gain of extinction patients was found to fit a coactivation (i.e. neural) rather than a probabilistic model.

Aged↗
PubMed1984

Reversible cerebral ischemias: a comparative analysis of risk factors in TIAs and in RINDs.

A retrospective study in which 709 patients, 522 with RIND and 187 with TIA, were compared in respect of common risk factors (RFs) for acute cerebrovascular disease. The two forms of the disease differed significantly in respect of smoking, hematocrit, hypercholesteremia, hypertriglyceridemia and hyperuricacidemia. Although these RFs do not seem to be determinants of or discriminants between the two forms of acute cerebrovascular disease, it is nonetheless highly probable that, together with all the other RFs, they have a facilitatory role.

Atrial Fibrillation↗
PubMedDate not supplied

Plasma alpha1-antichymotrypsin in Alzheimer's disease; relationships with APOE genotypes.

Inflammatory processes are thought to be important contributors to the pathogenesis of Alzheimer's disease (AD). alpha1-antichymotrypsin (ACT) is a proteinase inhibitor characteristic of acute-phase inflammation and has been identified in amyloid plaques. We analyzed the plasma ACT levels in a sample of subjects with late-onset AD and correspondent controls. Plasma ACT was higher in AD patients (62.8 +/- 20.2 mg/dl) than in controls (58.8 +/- 18.1 mg/dl), but not significantly (P = 0.13). In the AD patients regression analysis showed a positive linear relationship between ACT levels and duration of the disease (P = 0.037). Increased ACT concentrations (64.6 +/- 21.2 mg/dl) were also found in patients with greater cognitive impairment (MMSE scores < 20), but since this factor depends on the duration of the disease as well, our present data seem to indicate a complex relationship involving elevated ACT levels, disease duration and cognitive impairment. Plasma ACT was found to differ significantly according to APOE genotypes (P = 0.017), the highest levels being associated to E3-E3 homozygotes (66.1 +/- 17.8 mg/dl) and the lowest to E4-E3 subjects (53.1 +/- 18.2 mg/dl). In patients not carrying APOE*4 allele the ACT levels were higher than in controls (P = 0.014), and the relationship between ACT and disease duration was stronger than that observed in the total AD sample (P = 0.003), but it was absent in those carrying APOE*4 (P = 0.67). Taken together our results seem to suggest that inflammation is a relevant factor in AD pathogenesis for subjects with E3-E3 and E3-E2 genotypes but less important for APOE*4 carrying subjects.

Aged↗
PubMedDate not supplied

Screening of two mutations at exon 3 of the apolipoprotein E gene (sites 28 and 42) in a sample of patients with sporadic late-onset Alzheimer's disease.

The search for further variation at the APOE gene in a sample of patients with sporadic late-onset Alzheimer's disease (AD) and related controls revealed two different mutations in the exon 3 of the gene. One, the Leu28-->Pro, always found on an APOE e(*)4 allele, was present in five of the 94 patients and in 1 of the 157 controls. The other, Thr42-->Ala, found on an e(*)3 allele, was observed in only one AD patient, who also carried the Leu28-->Pro, but in none of the controls. In the AD patient group the allele e(*)4(-), corresponding to Leu28-->Pro, showed a frequency of 0.027, compared with only 0.003 in the controls. Compared to E3/3 and E3/2 genotypes, the risk of developing AD associated with the genotypes carrying the e(*)4 allele, the well-established risk allele for AD onset, was observed to be high (OR=3.16; 95% CI=1.62-6.20; P=0.0009), but the risk associated with genotypes carrying the Leu28-->Pro mutation was higher still (OR=10.95; 95% CI=1.25-95.75; P=0.015). The higher risk associated with this mutation was assessed by meta-analysis carried out using the data of three patient groups from a previously published study Kamboh et al. and from our study. The results indicated that, compared with all the other APOE genotypes, those carrying the Leu28-->Pro mutation were at a substantially higher risk of developing AD (OR=4.25; 95% CI=1.21-14.97).

Age of Onset↗
PubMedDate not supplied

Polymorphisms of the apolipoprotein E gene regulatory region and of the LDL receptor gene in late-onset Alzheimer's disease in relation to the plasma lipidic pattern.

Two new polymorphisms in the regulatory region of the apolipoprotein E gene, -491 A/T and -427 T/C, have been reported to be associated with the risk of Alzheimer's disease (AD). Moreover, in vitro studies suggest that the two polymorphisms modulate the levels of apoE protein expression. We examined these two polymorphisms, as well as the MspI polymorphism in the LDL receptor gene, in a series of elderly patients with late-onset sporadic AD and in an age-matched control group but failed to find any kind of association between these genetic features and an increased risk of AD. In the same samples we investigated the relationships between various genotypes and plasma lipid levels. Since the well-known effect of the three-allelic APOE polymorphism on plasma lipid levels could mask the effect of other polymorphisms, the analyses were performed taking into account the APOE genotype. The two regulatory region polymorphisms had significant effects only on the apoE levels. The -427 TT homozygotes had lower, and the -491 AA homozygotes had higher levels of apoE than other genotypes. This result confirmed in vivo the already observed in vitro effects of -491 A/T and -427 T/C polymorphisms on APOE promoter transcription activity.

Age of Onset↗