PubMed Health⌕ Search

Biomedical subjects

M Ruggeri

Publications and source records attributed to M Ruggeri.

At least 37 records · Page 2Linked to original sources
PubMed2000

The A20210 allele in the prothrombin gene enhances the risk of venous thrombosis in carriers of inherited protein S deficiency.

Sixteen families with inherited protein S deficiency and venous thromboembolism (VT) were screened for the presence of factor V (FV) Leiden mutation and for the G20210A allele in the prothrombin gene. While FV Leiden was not detected in any of the families, protein S deficiency and prothrombin mutation were present in five families. To assess the risk of VT in carriers of the combined defects, a total of 92 members of the 16 families, including propositi, were examined. Thirty subjects were normal, 40 showed protein S deficiency, 10 the prothrombin mutation and 12 showed both abnormalities. When index cases were excluded, thrombosis history were present in 40.7% of protein S-deficient patients, 75% of patients with combined abnormality, one out of the 10 (10%) with prothrombin mutation and only one (3.3%) of the normal subjects. Relatives with combined defects showed the highest incidence rate of VT in comparison with normal relatives (rate ratio = 32.4), those with protein S deficiency an intermediate degree (rate ratio = 15.7), and G20210A relatives the lowest (rate ratio = 3.4). Relatives with combined defects had an increased risk of VT in comparison with relatives with protein S deficiency (incidence rate ratio 2.1; 95% confidence interval, 0.7-5.41; P = 0.1). In conclusion, the presence of the prothrombin mutation seems to increase the risk of VT carriers of protein S deficiency, although additional families are required to fully estimate the magnitude of risk.

Adult↗
PubMed2000

Definition and prevalence of severe and persistent mental illness.

BACKGROUND: There is little consistency in how severe mental illness (SMI) is defined in practice, and no operational definitions. AIMS: To test two operationalized definitions, based on the National Institute of Mental Health (1987) definition: the first uses three criteria (diagnosis of psychosis; duration of service contact > or = 2 years; GAF score < or = 50), the second only the last two. METHOD: Annual prevalence rates of SMI in two European catchment areas for each criterion and the criteria combined were calculated. RESULTS: The first definition produced rates of 2.55 and 1.34/1000 in London and Verona, respectively; the second permitted an additional 0.98/1000 non-psychotic disorders to be included in Verona. CONCLUSIONS: The three-dimensional definition selects a small group of patients with SMI who have psychotic disorders. The two-dimensional approach allows estimates of SMI prevalence rates which include all forms of mental disorder.

Adult↗
PubMed2000

Development, internal consistency and reliability of the Verona Service Satisfaction Scale--European Version. EPSILON Study 7. European Psychiatric Services: Inputs Linked to Outcome Domains and Needs.

BACKGROUND: Satisfaction with mental health services is an important quality and outcome variable. The Verona Service Satisfaction Scale (VSSS) is a well-established method for measuring service satisfaction. AIM: To report the development and reliability study of the European Version of the VSSS (VSSS-EU). METHOD: A sample of people with schizophrenia on the case-load of local mental health services in the five European participating countries was assessed. The VSSS-EU was administered at one site in each country at two points in time. Internal consistency and test-retest reliability were assessed and compared between the five sites. RESULTS: The alpha coefficient for the VSSS-EU total score in the pooled sample was 0.96 (95% CI 0.94-0.97) and ranged from 0.92 (95% CI 0.60-1.00) to 0.96 (95% CI 0.93-0.98) across the sites. Test-retest reliability for VSSS-EU total score, pooled over sites, was 0.82 (95% CI 0.78-0.85) and ranged from 0.73 (95% CI 0.6-0.86) to 0.93 (95% CI 0.89-0.97) across the sites. CONCLUSION: VSSS-EU is a reliable instrument for measuring service satisfaction in people with schizophrenia, for use in comparative cross-national research projects and in routine clinical practice in mental health services across Europe.

Adolescent↗
PubMed2000

Quality of life in schizophrenia: development, reliability and internal consistency of the Lancashire Quality of Life Profile--European Version. EPSILON Study 8. European Psychiatric Services: Inputs Linked to Outcome Domains and Needs.

BACKGROUND: This paper, part of the European Psychiatric Services: Inputs Linked to Outcome Domains and Needs (EPSILON) Study, reports the development, reliability and internal consistency of the Lancashire Quality of Life Profile--European Version (LQoLP-EU) in a representative sample of people with schizophrenia from five European sites. METHOD: The LQoLP-EU was administered to a total sample of 404 patients to check its internal consistency, and a sub-sample of 294 patients was interviewed a second time within 7-15 days to verify its test-retest reliability. RESULTS: Internal consistency of the total domains, perceived QoL scale (Life Satisfaction Scale, LSS) was good at 0.87. Of the nine subjective QoL domains Work and Leisure showed the lowest internal consistency (0.30 and 0.56 respectively), the values of the remaining sub-scales ranging between 0.62 and 0.88. The pooled ICC score for LSS was 0.82, and for the nine subjective QoL domain sub-scales it ranged from 0.61 (Safety) to 0.75 (Living Situation). There were significant differences between the sites in alpha and ICCs for sub-scales, but not for the LSS. CONCLUSION: The LQoLP-EU has good internal consistency and reliability in the five European centres.

Adolescent↗
PubMed2000

Translation and cross-cultural adaptation of outcome measurements for schizophrenia. EPSILON Study 2. European Psychiatric Services: Inputs Linked to Outcome Domains and Needs.

BACKGROUND: Research on the comparison of mental health services has identified the need for internationally standardised and reliable measurements. AIMS: To describe the strategies adopted in the European Psychiatric Services: Inputs Linked to Outcome Domains and Needs (EPSILON) Study for the translation and cross-cultural adaptation of five European versions of the instruments. METHOD: A protocol was developed for translation of the outcome scales, describing each step in the translation procedure. Disputed items were discussed in focus groups, which faced seven tasks: a list of topics to be discussed; choosing where the group should meet; composition of participants; conducting the group; data collection; data completion afterwards; reporting results. RESULTS: Modifications made to instruments were: changes in the instrument structure, contents and concepts; adjustments to the instrument structure; and modifications to the instrument manual. CONCLUSION: Use of focus groups is an adequate method to apply if concepts, constructs and translation issues are to be addressed; otherwise, less time-consuming methods should be considered.

Cross-Cultural Comparison↗
PubMed2000

Methodology of a multi-site reliability study. EPSILON Study 3. European Psychiatric Services: Inputs Linked to Outcome Domains and Needs.

BACKGROUND: The European Psychiatric Services: Inputs Linked to Outcome Domains and Needs (EPSILON) Study aims to produce standardised versions in five European languages of instruments measuring needs for care, family or caregiving burden, satisfaction with services, quality of life, and socio-demographic and service receipt. AIMS: To describe background, rationale and design of the reliability study, focusing on reliable instruments, reliability testing theory, a general reliability testing procedure and sample size requirements. METHOD: A strict protocol was developed, consisting of definitions of the specific reliability measures used, the statistical methods used to assess these reliability coefficients, the development of statistical programmes to make inter-centre reliability comparisons, criteria for good reliability, and a general format for the reliability analysis. CONCLUSION: The reliability analyses are based on classical test theory. Reliability measures used are Cronbach's alpha, Cohen's kappa and the intraclass correlation coefficient. Intersite comparisons were extended with a comparison of the standard error of measurement. Criteria for good reliability may need to be adapted for this type of study. The consequences of low reliability, and reliability differing between sites, must be considered before pooling data.

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↗
PubMed1999

Apolipoprotein E genotype and plasma levels in coronary artery disease. A case-control study in the Italian population.

OBJECTIVES: To investigate the role of the apolipoprotein B and apolipoprotein E polymorphisms in coronary artery disease (CAD) susceptibility in the Italian population and their relation to plasma lipid and apolipoprotein levels. METHODS: APOB (APOB Xbal, EcoRI, Ins/Del), and APOE (APOE Cfol) polymorphisms were analyzed in 150 male CAD patients and 110 matched controls. In the same subjects plasma lipid, apoB, and apoE levels were measured. RESULTS: No differences in the distribution of the APOB polymorphisms were observed between patients and controls. Among patients the number of e*4-carriers was significantly higher than in controls. e*4-carriers were more frequent among the hypertensive patients and had a higher systolic blood pressure (p = 0.007) than the non-e*4 carriers. The APOB Xbal polymorphism was found to influence the distribution of HDL-cholesterol. Patients showed significantly lower levels of apoE (39.29 mg/L) than controls (54.32 mg/dL) and the lowest concentrations were associated to the E4/E3 and E4/E4 genotypes. CONCLUSION: Quantitative data are consistent with the hypothesis that apoE has an anti-atherosclerotic role and suggest that the apoE quantitation could be a useful parameter for defining cardiovascular risk. e*4 allele appears to be a risk factor for CAD in the Italian population and could act by its association with low apoE levels.

Adult↗
PubMed1999

Pseudohomozygosity for activated protein C resistance is a risk factor for venous thrombosis.

Pseudohomozygosity for activated protein C resistance (APC-r) is a rare condition due to the association of heterozygous FV Leiden mutation and partial type I FV deficiency. To assess the risk of venous thromboembolism in these subjects, seven families including 11 pseudohomozygotes and 45 relatives were examined. Among the relatives, 16 were heterozygous FV Leiden carriers, nine showed partial FV deficiency and 20 no abnormalities. Deep vein thrombosis occurred in 4/11 (36.3%) pseudohomozygous patients versus 6/16 (37. 4%) FV Leiden carriers and 1/20 (5%) normal relatives. Pseudohomozygotes and FV Leiden carriers had a significantly increased risk of venous thrombosis in comparison to normal relatives (RR 8.8 and 5.7, respectively). There was no difference between the thrombotic risk of pseudohomozygous subjects and of FV Leiden carriers (RR 1.6, 95% CI 0.43-5.7). Furthermore, there was no difference in thrombosis-free survival between pseudohomozygotes and 45 consecutive FV Leiden heterozygous outpatients, suggesting that a referral bias may explain the apparent younger age of thrombosis in the pseudohomozygotes in comparison to relatives with FV Leiden heterozygosity (27 years v 54 years; P = 0.01). Pseudohomozygosity for APC resistance carries a significantly higher risk for venous thromboembolism in comparison to normal subjects, but probably not in comparison to heterozygous FV Leiden carriers.

Activated Protein C Resistance↗
PubMed1999

High-dose aprotinin with gentamicin-vancomycin antibiotic prophylaxis increases blood concentrations of creatinine and cystatin C in patients undergoing coronary artery bypass grafting.

Both aprotinin and gentamicin-vancomycin antibiotic prophylaxis have been used widely in cardiac surgery to prevent bleeding and infections, respectively. As the drugs are excreted almost entirely by glomerular filtration, we investigated their action on renal function when administered either separately or together. To increase consistency, we measured serum concentrations of creatinine and cystatin C, a new marker of glomerular filtration rate, that many recent studies have shown to be more sensitive than serum creatinine. One hundred patients undergoing coronary artery bypass surgery were allocated randomly to one of four groups: group A received antibiotic prophylaxis with cefamandole and no aprotinin; group B received cefamandole and high-dose aprotinin; group C received antibiotic prophylaxis with gentamicin and vancomycin, but no aprotinin; and group D received both high-dose aprotinin and gentamicin-vancomycin antibiotic prophylaxis. Data from 84 patients, for whom data collection was complete, were analysed. In the first week after operation, mean serum concentrations of cystatin C and creatinine either remained constant or decreased slowly in all groups, except for group D. In group D, both markers increased gradually from postoperative day 2 onwards. The increase in cystatin C was significant on postoperative day 5 (from mean 1.02 (SD 0.11) mg litre-1 before operation to 1.35 (0.32) mg litre-1; P < 0.05), reaching a peak on postoperative day 7 (1.45 (0.35) mg litre-1; P < 0.05), while the increase in creatinine concentration was significant on postoperative day 6 (from 1.05 (0.16) mg dl-1 before operation to 1.29 (0.34) mg dl-1; P < 0.05). We conclude that simultaneous administration of high-dose aprotinin and prophylactic use of gentamicin with vancomycin increased serum concentrations of cystatin C and creatinine in the first postoperative week in patients undergoing cardiac surgery.

Aged↗
PubMed1999

Comparison of patient satisfaction with community-based vs. hospital psychiatric services.

OBJECTIVE: Previous work suggests that psychiatric patients are more satisfied with community-based than with hospital-based services, but it is not clear how far these findings can be generalized to routine services. The aim of this study was to compare the satisfaction of patients with psychosis between a hospital-based service in London, UK and a community-based service in Verona, Italy. METHOD: The Verona Service Satisfaction Scale (VSSS) was used to measure satisfaction among patients with psychosis in Nunhead (London) and South Verona. RESULTS: Satisfaction across all dimensions was higher in South Verona than in Nunhead. Sociodemographic and service use differences between the two groups were insufficient to explain this difference. CONCLUSION: This study suggests that experimental findings that patients prefer community-based to hospital psychiatric services can be generalized to routine services.

Adult↗
PubMed1999

Homocysteine levels in polycythaemia vera and essential thrombocythaemia.

Patients with polycythaemia vera (PV) or essential thrombocythaemia (ET) have an increased risk of arterial and venous thromboembolic complications. Since hyperhomocysteinaemia (HHC) is a risk factor for vascular disease, we investigated the frequency of HHC in these disorders and analysed a possible association of elevated plasma homocysteine levels with vascular complications. In the cohort of 134 patients from Vienna (69 female, 65 male, median age 65.5 years, range 21-91 years) with PV (n = 74) or ET (n = 60), plasma homocysteine levels were significantly higher compared to 134 healthy controls. Median homocysteine level was 12.3 micromol/l (range 3.5-48.4 micromol/l) in patients with PV or ET and 8.9 micromol/l (range 4.8-30.5 micromol/l) in normal controls (P < 0. 0001). In addition to the 134 patients from Vienna, 48 patients (28 female, 20 male; median age 66.5 years, range 24-82) from Vicenza with PV (n = 25) or ET (n = 23) were included to evaluate the impact of HHC on the risk of thrombosis. Of 59 patients with HHC (44 from Vienna and 15 from Vicenza) 18 (31%) had a history of arterial and 10 (17%) of venous thrombosis. Of 123 patients with normal homocysteine levels, 30 (24%) had arterial and 16 (13%) had venous thromboses. The difference between the two groups was statistically not significant. Even though mild to moderate HHC occurred in a larger number of patients with PV or ET and thrombosis, it can presently not be regarded as an additional risk factor for thrombosis.

Adult↗
PubMed1998

Splenectomy and risk of blast transformation in myelofibrosis with myeloid metaplasia. Italian Cooperative Study Group on Myeloid with Myeloid Metaplasia.

An unexpectedly high incidence of blast transformation after splenectomy has been reported in patients with myelofibrosis with myeloid metaplasia. However, whether this was associated with spleen removal after adjustment for risk factors was not determined. We conducted a multicenter historical cohort study of patients with myelofibrosis with myeloid metaplasia diagnosed from January 1970 through January 1994. A total of 549 patients (325 men and 224 women from 22 to 92 years of age; median age, 63 years) were included in the final data set. The Cox's proportional-hazards model was used to identify factors associated with blast transformation and death. To further adjust for factors related to spleen removal assignment, a propensity score for splenectomy was estimated using recursive-partitioning analysis. Blast transformation developed in 78 patients (14.2%). Patients who underwent splenectomy developed more blast transformations than those who were not splenectomized (23 of 87 [26.4%] v 55 of 462 [11.9%]; P < .001). The cumulative incidence of blast transformation 12 years after diagnosis was 27.0% in nonsplenectomized patients and 55.0% in splenectomized ones (P = . 01). The risk factors independently predictive of blast transformation included prior splenectomy (relative risk = 2.61), platelet count less than 100 x 10(9)/L at diagnosis (relative risk = 2.45), and the presence of blasts in peripheral blood at diagnosis (relative risk = 2.31). The relative risk of blast transformation in splenectomized patients increased from 2.2 at 48 months from diagnosis to 14.3 at 12 years. Patients with the same propensity score for splenectomy showed a higher risk for blast transformation on the basis of having undergone splenectomy (P = .02). In conclusion, the risk of blast transformation is significantly increased in subjects who underwent splenectomy and appears to be independent of factors related to spleen removal assignment.

Adult↗
PubMed1998

Low risk of venous thrombosis in two families with combined type I plasminogen deficiency and factor V R506Q mutation.

Two families with type I plasminogen deficiency and APC resistance are reported. The proposita of family A suffered from ischemic stroke when taking estrogen-progesterone-containing oral contraceptive. Several hemostatic challenges in the past (ovariectomy, appendectomy, and two pregnancies) were without thrombosis. Plasminogen activity and antigen (60 and 58%, normal range 72-136 and 69-135%, respectively) were reduced, and an increased APC resistance (APC-SR= 1.55; normal range 1.8-3.00) associated with G --> A change at 1,691 nucleotide position in exon 10 of FV gene (FV Leiden) was observed. The asymptomatic son had isolated plasminogen deficiency (activity 57% and antigen 60%) whereas the asymptomatic daughter had isolated APC resistance (APC-SR = 1.61) and FV Leiden mutation. The proposita of family B, referred for superficial thrombophlebitis, had low plasminogen levels (activity 55% and antigen 53%) and APC resistance (APC-SR = 1.5) whereas the asymptomatic mother and the brother had isolated APC resistance (APC-SR = 1.62 and 1.8, respectively) and the asymptomatic father isolated plasminogen deficiency (activity 61% and antigen 62%). These data suggest that the combination of plasminogen deficiency and APC resistance probably does not significantly increase the risk of venous thrombosis. However, larger experience with additional cases is needed to definitely assess the magnitude of thrombotic risk in these families.

Blood Coagulation↗
PubMed1998

Multivariate analysis of outcome of mental health care using graphical chain models. The South-Verona Outcome Project 1.

BACKGROUND: Short-term outcome of mental health care was assessed in a multidimensional perspective using graphical chain models, a new multivariate method that analyses the relationship between variables conditionally, i.e. taking into account the effect of antecedent and intervening variables. METHODS: GAF, BPRS, DAS (at baseline and after 6 months), LQL and VSSS (at follow-up only) were administered to 194 patients attending the South-Verona community-based mental health service. Direct costs in the interval were also calculated. Graphical chain models were used to analyse: (1) the associations between predictors (psychopathology, disability, functioning, assessed at baseline); (2) the effects of predictors on costs; and (3) the effect of predictors and costs on outcomes (psychopathology, disability, functioning, quality of life and service satisfaction) as well as their correlation. RESULTS: Psychopathology, disability and functioning scores at baseline predicted the corresponding scores at 6-month follow-up, with greater improvement in the more severely ill. Higher psychopathology and poorer functioning at baseline predicted higher costs and, in turn, costs predicted poorer functioning at follow-up. Outcome indicators polarized in two groups: psychopathology, disability and functioning, which were highly correlated; and the dyad service satisfaction and quality of life. Service satisfaction was highly related to quality of life and was predicted by low disability and high dysfunctioning. No predictors for quality of life were found. CONCLUSIONS: Graphical chain models were demonstrated to be a useful methodology to analyse process and outcome data. The results of the present study help in formulating specific hypotheses for future studies on outcome.

Adult↗