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Biomedical subjects

L Amaducci

Publications and source records attributed to L Amaducci.

At least 37 records · Page 2Linked to original sources
PubMed1997

Analysis of apolipoprotein E, alpha1-antichymotrypsin and presenilin-1 genes polymorphisms in dementia caused by normal pressure hydrocephalus in man.

Normal pressure hydrocephalus (NPH) is characterized by dementia, gait disorders and urinary incontinence. Apolipoprotein E (ApoE) epsilon4 allele has been associated with severity of dementia in Alzheimer's disease (AD) and in other forms of dementia. Moreover, homozygosity of the A allele of the alpha1-antichymotrypsin (ACT) gene and of allele 1 of the presenilin-1 (PS-1) gene was associated with an increased risk for late onset AD. We analyzed the distribution of ApoE, ACT and PS-1 genotypes and the corresponding allele frequencies in 13 NPH patients. No differences were found in ACT and PS-1 polymorphism distributions in the patients studied with respect to the control group. An increased ApoE epsilon4 allele frequency was observed in NPH patients with respect to controls, thus suggesting that epsilon4 allele may also be involved in the pathogenesis of the disease.

Adult↗
PubMed1997

Presenilin-1 gene intronic polymorphism in sporadic and familial Alzheimer's disease.

A recent observation has shown a genetic association between an intronic polymorphism in the Presenilin-1 (PS-1) gene and late onset Alzheimer's disease (AD). The homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late onset AD. However, contrasting results have been published. We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes. Significant differences in PS-1 allele frequencies were observed in the Presenilin genes mutated families but not in late onset AD patients and in APP mutated families.

Adult↗
PubMed1997

Evaluation of the cost of home care for terminally ill cancer patients.

The aim of this work was to carry out a cost evaluation of the home care programme for terminally ill cancer patients run by the Istituto Oncologico Romagnolo (I.O.R.) in the areas of Forlì, Cesena, Ravenna and Rimini (Romagna, Italy). To determine effective home care direct costs, we first selected 1 week of care as an observation unit. We then proceeded to assess the medical and nursing care units together with the clinical protocols administered for each patient. The Karnofsky Performance Status (KPS) was also assessed weekly. In this way, we calculated care costs for each patient and for each week as the sum of medical costs, nursing costs, treatment costs and other costs. A consecutive series of 574 patients were involved in the study from 1 April 1994 to 31 March 1995. A total of 5164 patient-weeks of care was provided, with an average cost per week of 177.6 Ecu. This weekly cost increased in the last 100 days of life (week -15 = 179.5 Ecu; week -8 = 188.3 Ecu; week -2 = 221.0 Ecu; P < 0.001). When single components were analysed in relation to total cost (treatment protocols, physician and nursing care) the increased global cost was found to be mainly attributable to the intensification in nursing care (21.8% of costs in week -15 vs 27.3% of costs in week -2). Examination of the relation between the cost of 1 week of care and KPS values clearly shows that healthcare costs increased as KPS decreased (from 152.2 Ecu with KPS > or = 60 to 292.6 Ecu with KPS < or = 20; P < 0.001). Home care costs were also seen to vary with some clinical characteristics and symptoms present when patients entered the study: asthenia, anorexia, nausea/vomiting, bedsores. Given the good results of home care for cancer patients in terms of quality of life, this method of cost accounting for home-care providers can help to monitor the rising cost of assistance and confirm the cost effectiveness of this type of care.

Adolescent↗
PubMed1997

Immunosuppressive activity of 13-cis-retinoic acid in rats: aspects of pharmacokinetics and pharmacodynamics.

Pharmacokinetics and pharmacodynamics of 13-cis-retinoic acid (13-cRA) administered at doses that suppress experimental autoimmune encephalomyelitis (EAE) have been investigated in rats. Serum concentration of the drug measured following oral administration of 37 mg/kg/12 h reached a peak of 1.8 x 10(-5) M in 2 h and linearly declined to 7.8 x 10(-7) M at hour 12. When spleen cells (SC) collected from 13-cRA-administered animals were cultured in vitro, their proliferative response to the T-cell mitogen concanavalin A (ConA) was suppressed and this effect was dependent on in vivo serum concentrations of the drug. In addition, in vitro exposure of antigen-specific T-cell lines to 13-cRA concentrations equivalent to those observed in vivo caused a dose-dependent suppression of the proliferation induced by the antigen as well as by T-cell mitogens. On a molar basis, 13-cRA showed a stronger in vitro immunosuppressive activity than two immunosuppressive agents used in human therapy, cyclosporin A and 6-mercaptopurin.

Animals↗
PubMed1997

Technical limits in transcranial Doppler recording: inadequate acoustic windows.

Transcranial Doppler (TCD) is a technique that evaluates blood flow velocity in intracranial vessels. It uses a 2-MHz probe and a Doppler signal analyzer. Absence of an acoustic window is a considerable problem for clinical utilization of TCD because cerebrovascular patients are frequently elderly. Previous reports suggest a higher prevalence of inadequate temporal acoustic window (TAW) in aged subjects and in females. A consecutive series of 624 subjects (376 males and 248 females, age range 2-86 y) were evaluated by standard TCD examination, to assess the contemporary absence of any signal corresponding to insonated basal arteries, defined as inadequate acoustic window. The rate of inadequate TAW was 8.2%, that of inadequate occipital acoustic window (OAW) was 9.0%. Prevalence of inadequate TAW was higher in females than in males, and OAW was higher in males than in females. Influence of aging on the presence of inadequate acoustic window is confirmed for temporal, but not for the occipital window. Different anatomical characteristics of the 2 regions could explain the different prevalence of TAW and OAW.

Aged↗
PubMed1997

Cell proliferation as a predictor of response to chemotherapy in metastatic breast cancer: a prospective study.

Many biologic prognostic markers are available for patients with breast cancer, and considerable interest has been devoted to confirm preliminary evidence of their role as indicators of treatment response. It remains to be assessed whether such markers are predictors of response only to first-line or also to successive therapies. Proliferative activity, defined by the 3H-thymidine labeling index (TLI), was determined on the primary lesion from 76 patients at time of first diagnosis. At relapse, patients underwent chemotherapy as absolute (48 cases) or relative (28 cases) first-line treatment, and their clinical response was analyzed in relation to the TLI of the primary lesion. The objective clinical response was significantly higher for rapidly (47%; CL, 33-61%) than for slowly proliferating tumors (15%; CL, 1-29%). These findings held true also when adjusted for metastatic site, previous treatment, chemotherapy regimen administered, and hormone receptor status. However, the direct relation between cell proliferation and benefit from chemotherapy held true only when such a treatment was used as an absolute first-line approach. Cell proliferation of primary lesions represents a consistent indicator of response to chemotherapy over time. Previously administered regimens, at least hormone therapy, could alter the proliferation-related chemosensitivity profile of individual tumors.

Adult↗
PubMed1997

Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease.

OBJECTIVES: To assess and compare the prevalence of parkinsonism and Parkinson's disease in five European populations that were surveyed with similar methodology and diagnostic criteria. METHODS: Joint analysis of five community surveys--Gironde (France), eight centres in Italy, Rotterdam (The Netherlands), Girona (Spain), and Pamplona (Spain)--in which subjects were screened in person for parkinsonism. Overall, these surveys comprised 14,636 participants aged 65 years or older. RESULTS: The overall prevalence (per 100 population), age adjusted to the 1991 European standard population, was 2.3 for parkinsonism and 1.6 for Parkinson's disease. The overall prevalence of parkinsonism for the age groups 65 to 69, 70 to 74, 75 to 79, 80 to 84, and 85 to 89 years was respectively, 0.9, 1.5, 3.7, 5.0, and 5.1. The corresponding age specific figures for Parkinson's disease were 0.6, 1.0, 2.7, 3.6, and 3.5. After adjusting for age and sex, the prevalence figures did not differ significantly across studies, except for the French study in which prevalence was lower. Prevalence was similar in men and women. Overall, 24% of the subjects with Parkinson's disease were newly detected through the surveys. CONCLUSIONS: Prevalence of both parkinsonism and Parkinson's disease increased with age, without significant differences between men and women. There was no convincing evidence for differences in prevalence across European countries. A substantial proportion of patients with Parkinson's disease went undetected in the general population.

Age Distribution↗
PubMed1996

c-fos/c-jun expression and AP-1 activation in skin fibroblasts from centenarians.

In vitro replicative senescence is characterized by an irreversible growth arrest due to the inability of the cell to induce some key regulators of cell cycle progression, such as c-fos and AP-1, in response to mitogenic stimuli. In vitro replicative senescence and in vivo aging have been assumed to be two related phenomena, likely controlled by overlapping or interacting genes. As a corollary, fibroblasts from centenarians, which have undergone a long process of senescence in vivo should have very limited proliferative capability. On the contrary, in a previous work we found that fibroblasts from centenarians exhibited the same capacity to respond to different mitogenic stimuli as fibroblasts from young donors. Here we provide evidences that the well preserved proliferative response is likely due to the fact that some pivotal regulators- c-fos, c-jun and AP-1-are still fully inducible, despite a long process of in vivo senescence. Our data therefore suggest that in vivo and in vitro aging are separate phenomena whose possible relationships, if any, have to be ascertained very carefully.

Adolescent↗
PubMed1996

The effect of tetraethylammonium on intracellular calcium concentration in Alzheimer's disease fibroblasts with APP, S182 and E5-1 missense mutations.

It has been proposed that the lack of intracellular calcium concentration ([Ca2+]i) increase induced by the potassium channel blocker tetraethylammonium (TEA) in skin fibroblast cell lines identifies patients with both sporadic and familial Alzheimer's disease (AD). In order to verify this hypothesis, the effect of TEA on [Ca2+]i was studied in single fura-2-loaded skin fibroblast cell lines available in the Tissue Bank of the Italian Research Council. Four out of eight familial AD patients (one patient with S182 mutation, one patient with E5-1 mutation and two patients with 717 Val-->Ile APP mutation) and two out of five sporadic AD patients showed a positive response to TEA, whereas five out of 11 control lines were unresponsive. Our data suggest that the absence of the TEA-induced increase in [Ca2+]i in skin fibroblast cell lines does not identify all AD patients.

Aged↗
PubMed1996

No evidence of linkage between schizophrenia and D2 dopamine receptor gene locus in Italian pedigrees.

Our purpose was to test the dopamine D2 receptor gene (DRD2), the tyrosine hydroxylase (TH) gene and the monoamino oxydase A (MAO-A) gene for linkage to schizophrenia and bipolar disorders. We have analyzed seven Italian families with schizophrenia and four families with bipolar disorders for a total of 68 individuals; 32 individuals were affected. Diagnoses were made using the structured clinical interview Schedule for Affective Disorders and Schizophrenia, Lifetime version (SADS-L). The results of our study provide no evidence of linkage between alleles at D2 dopamine receptor loci and schizophrenia or bipolar disorders. The markers TH gene and MAO-A gene give slightly positive or negative results suggesting the utility of further analysis on more informative families.

Bipolar Disorder↗
PubMed1996

Alzheimer's disease and apolipoprotein E in Italy.

Recent studies have provided evidence of association of apolipoprotein E (ApoE) epsilon 4 allele and late onset familial and sporadic Alzheimer's disease (AD). Epidemiological studies have established allelic variation at the ApoE locus. We have analyzed the ApoE gene polymorphism in a sample of 416 Italian subjects. Our data confirm a significant association between epsilon 4 allele and sporadic AD. The frequency of epsilon 4 allele in early onset familial AD patients was comparable to control values suggesting that epsilon 4 allele does not represent a risk factor for early onset familial AD (EOFAD). Moreover, we found a not-previously reported association between ApoE epsilon 2 allele and sporadic AD and EOFAD. We included in this study two EOFAD families with the APP717 Val-->Ile mutation in the Amyloid Precursor Protein (APP) gene on chromosome 21. In any of the EOFAD families there was a significant effect of the ApoE genotype on the age of onset with the exception of one of the two mutated EOFAD families in which the 2 allele delays the age of onset.

Adult↗
PubMed1996

Apolipoprotein E and alpha1-antichymotrypsin polymorphism in Alzheimer's disease.

A recent observation has shown that a common polymorphism in the alpha1-antichymotrypsin (ACT) gene modifies the apolipoprotein E (ApoE) epsilon4-associated Alzheimer's disease (AD) risk identifying the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes as a potential susceptibility marker for AD. We analyzed the segregation of the ApoE and ACT polymorphism in sporadic and familial AD patients. In none of the sporadic AD patients did we find the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes. The frequency of ApoE epsilon4/epsilon4 homozygosity in the AD sample resulted highest for the ACT/ TT genotype (17.6%). Our data fail to confirm any additional association with AD beyond the ApoE epsilon4 allele with any ACT genotype, suggesting that ACT does not represent an additional risk factor for AD.

Adult↗