Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families.
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Previous genome screens in multiple sclerosis have shown some evidence of linkage in scattered chromosomal regions. Although in no case the evidence of each single study was compelling and although in general the linkage 'peaks' of the different studies did not coincide, some regions can be considered likely candidates for the presence of MS risk genes because of the clustering of MLS scores and homology with eae loci. We performed a linkage analysis of markers in these regions and of intragenic markers of some individual candidate genes (HLA-DRB1, CTLA-4, IL9, APOE, BCL2, TNFR2). For the first time, Southern European populations were targeted, namely Continental Italians and Sardinians. A total of 69 multiplex families were typed for 67 markers by a semi-automatic fluorescence-based assay. Results were analysed for linkage by two non-parametric tests: GENEHUNTER and SimIBD. In general, the linkage scores obtained were low, confirming the conclusion that no gene is playing a major role in the disease. However, some markers, in 2p11, 3q21.1, 7p15.2 and 22q13.1 stood out as promising since they showed higher scores with one or the other test. This stimulates further association analysis of a large number of simplex families from the same populations. (+info)
Regional differences in waiting time to pregnancy: pregnancy-based surveys from Denmark, France, Germany, Italy and Sweden. The European Infertility and Subfecundity Study Group.
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The objective of this study was examine geographical variation in couple fecundity in Europe. The study was based upon all recently pregnant (or still pregnant) women within well-defined geographical areas in Europe (Denmark, Germany, Italy, Sweden and France) at a given time period in 1992. Altogether, 4035 women responded to a highly structured questionnaire. Highest fecundity was found in Southern Italy and Northern Sweden; lowest fecundity was seen in data from the East German centre. Approximately 16% of the study population had a waiting time of more than 12 months to become pregnant. Most of the pregnancies were planned (64%) and approximately 14% were the result of contraceptive failures. The study shows that smoking, body mass index, age and parity did not explain the differences in fecundity found between the centres. Regional differences in fecundity exist and the causes may be genetic or due to variations in behavioural and environmental exposures. (+info)
Vaccine storage in the community: a study in central Italy.
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Maintaining the vaccine cold chain is an essential part of a successful immunization programme, but in developed countries faulty procedures may occur more commonly than is generally believed. A survey was conducted in a health district in central Italy to assess the methods of vaccine transportation and storage. Of 52 primary vaccination offices inspected, 39 (76.5%) had a refrigerator for vaccine storage but only 17 (33.3%) kept records of received and stored doses. None of the seven main offices selected for monitoring had a maximum and minimum thermometer and none monitored the internal temperature of the refrigerator. Moreover, other faulty procedures, such as the storage of food and laboratory specimens in vaccine refrigerators and the storage of vaccines on refrigerator door shelves, indicated that the knowledge and practice of vaccine storage and handling were often inadequate. (+info)
Splenectomy in hematology. Current practice and new perspectives.
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BACKGROUND AND OBJECTIVE: Progress and changes in the management of blood diseases, in surgery and in video technology stimulate a critical reappraisal of splenectomy in hematology. DESIGN AND METHODS: We have collected information on the current practice of splenectomy in hematology in Italy and we have reviewed the results of a new technique of laparoscopic splenectomy (LS). RESULTS: Current splenectomy practice: the current practice in Italy is to offer splenectomy as front-line treatment for hereditary spherocytosis and as second-line for idiopathic thrombocytopenic purpura (ITP) and hemolytic anemia. Splenectomy is also offered in selected cases of leukemia and lymphoma but is going out of practice for hairy cell leukemia and Hodgkin's disease. The number of splenectomies that are performed every year is estimated to be higher than 10x10(6) persons (more than 500 cases per year). Laparoscopic splenectomy (LS): more than 700 cases of LS have been reported so far, for thrombocytopenia (470 cases) as well as for many other hematologic indications. The procedure carries a mortality of 0.8%, and a complication rate of 12%. Time spent in the operating theater ranges from 1.5 to 4 hours, blood transfusion requirement is minimal and the mean post-operative hospital stay is 3 days. INTERPRETATION AND CONCLUSIONS: Although a prospective comparison is not available, the results of LS compare favorably with the results of classic open splenectomy, so that LS is likely to become the technique of choice especially when the spleen is small, as in ITP. LS can also have some advantages in other cases of splenectomy, including splenomegaly for leukemia and lymphoma. These data and suggestions should stimulate and renew a discussion about splenectomy in hematology, with the purpose of establishing evidence-based guidelines. (+info)
Cause-specific mortality in type 2 diabetes. The Verona Diabetes Study.
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OBJECTIVE: This population-based study, carried out in the framework of the Verona Diabetes Study, investigated mortality from specific causes in known type 2 diabetic patients. RESEARCH DESIGN AND METHODS: A cohort of 7,148 known type 2 diabetic patients (3,366 men and 3,782 women) was identified on 31 December 1986 and followed up for 5 years (1987-1991). Underlying causes of death were obtained from death certificates and were coded according to the International Classification of Diseases, Ninth Revision. Cause-specific death rates of diabetic subjects were compared with those of the inhabitants of Verona. By 31 December 1991, 1,550 diabetic subjects (744 men and 806 women) had died. RESULTS: The standardized mortality ratio (SMR) for all causes of death was 1.42 (95% CI 1.35-1.50). The highest SMRs were for the following specific causes: diabetes (SMR 4.47 [3.91-5.10]), gastrointestinal diseases (1.83 [1.50-2.21])--particularly liver cirrhosis (2.52 [1.96-3.20])--and cardiovascular diseases (1.34 [1.23-1.44]), particularly cerebrovascular (1.48 [1.25-1.73]) and ischemic heart diseases (1.41 [1.24-1.62]). A significantly higher than expected risk of mortality for cardiovascular causes was already present in the first 5 years after diagnosis and decreased with age. Type 2 diabetic patients treated with insulin had a higher risk of dying than those treated orally or by diet. CONCLUSIONS: The highest SMRs in the diabetic cohort were for diabetes and liver cirrhosis. The mortality risk for cardiovascular diseases, although significantly higher than expected, was much lower in Italian type 2 diabetic patients than that reported for American patients. The evidence of an early effect on mortality suggests that prevention, early diagnosis, and treatment should be improved. (+info)
Clinical, immunological, and genetic heterogeneity of diabetes in an Italian population-based cohort of lean newly diagnosed patients aged 30-54 years. Piedmont Study Group for Diabetes Epidemiology.
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OBJECTIVE: In lean diabetic patients, the presentation of the disease does not allow one to easily distinguish between type 1 and type 2. Aims of this study were to describe clinical, immunological, and genetic features of lean newly diagnosed diabetic patients. RESEARCH DESIGN AND METHODS: A population-based cohort of 130 lean (BMI < 25 kg/m2) newly diagnosed patients, aged 30-54 years, was identified among residents of the province of Turin. Islet cell antibodies (ICAs), anti-GAD, fasting and glucagon-stimulated C-peptide values, and HLA DQA1-DQB1 susceptibility genotypes were assessed within 2 months of the diagnosis. RESULTS: A total of 45 (34.6%) and 29 (22.3%) patients were, respectively, ICA+ and anti-GAD+, with 15 (11.5%) having both antibodies. In 59 patients, ICAs and/or anti-GAD antibodies were detected, giving a high prevalence of autoimmunity (45.4%, 95% Cl 36.8-54.0); relative to patients without markers (n = 71), they were younger (40.8 +/- 7.5 vs. 45.0 +/- 6.5 years, P < 0.001) and showed lower values of fasting C-peptide (0.56 +/- 0.33 vs. 0.79 +/- 0.41 nmol/l, P < 0.001) and stimulated C-peptide (1.03 +/- 0.56 vs. 1.42 +/- 0.69 nmol/l, P < 0.001). The lowest stimulated C-peptide values were found in patients with both ICA and anti-GAD antibodies. Frequencies of adult-onset type 1 and type 2 diabetes were, respectively, 49.2 and 50.8%. Clinical and genetic features were not useful in the classification of patients. CONCLUSIONS: Almost 50% of lean young and middle-aged patients were ICA+ and/or anti-GAD+, suggesting a high prevalence of a slowly evolving form of type 1 diabetes. The evaluation at diagnosis of both beta-cell secretory capacity and markers of autoimmunity is recommended to provide a pathogenetic classification of the disease. (+info)
Diagnosis and treatment of cervical intraepithelial neoplasia grade 3: a registry-based study in the Romagna region of Italy (1986-1993).
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BACKGROUND: Treatment of cervical intraepithelial neoplasia grade 3 (CIN3) is one of the most unexplored issues of the monitoring of cervical cancer screening. We evaluated (1) the frequency of major patterns of diagnosis and treatment of CIN3 (ICD-O code 8070.2), (2) the determinants of hysterectomy as a first choice treatment, and (3) the determinants of invasive cervical squamous carcinoma (CSC) detection among CIN3 cases treated by hysterectomy. METHODS: A population-based, retrospective, descriptive (objective 1) and analytical (objectives 2 and 3) study was conducted by the Romagna Cancer Registry (Northern Italy). Included were 316 CIN3 patients (median age, 38.5 years; range, 21-80) registered between 1986 and 1993 and meeting one of the following eligibility criteria: histological diagnosis of CIN3 on biopsy with any subsequent treatment, histological diagnosis of CIN3 on conization, histological diagnosis of CIN3 on hysterectomy with previous negative/benign (< or = CIN2) biopsy or conization. Multivariate associations were evaluated by the multiple logistic regression. RESULTS: Of 316 patients, 264 (84%) were first diagnosed on biopsy, 39 (12%) on conization, and 13 (4%) on hysterectomy. Among the 264 patients diagnosed on biopsy, the first choice treatment was local destructive therapy for 16 (6%), conization for 155 (59%) and hysterectomy for 93 (35%). Age was the strongest uni/multivariate predictor of hysterectomy (the most frequent first choice treatment >40 years) followed by adequacy of biopsy (inverse association) and place of treatment (decreased probability for patients treated outside the area and in the private sector). Among the 93 CIN3 patients undergoing hysterectomy, 23 (25%) had a CSC diagnosed. Multivariate analysis showed that the probability of CSC detection was related to adequacy of biopsy (inverse association), year of registration, and biopsy-to-treatment interval (inverse association). CONCLUSION: Hysterectomy was a common treatment for patients with CIN3 on biopsy. Only in a minority of hysterectomized patients was a CSC diagnosed. Difficulties and inefficiencies in the biopsy and assessment procedure were found to be important factors in the management and outcome of CIN3 patients. (+info)
Occurrence, diversity, and pathogenicity of halophilic Vibrio spp. and non-O1 Vibrio cholerae from estuarine waters along the Italian Adriatic coast.
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The occurrence, diversity, and pathogenicity of Vibrio spp. were investigated in two estuaries along the Italian Adriatic coast. Vibrio alginolyticus was the predominant species, followed by Vibrio parahaemolyticus, non-O1 Vibrio cholerae, and Vibrio vulnificus. By using a biochemical fingerprinting method, all isolates were grouped into nine phenotypes with similarity levels of 75 to 97.5%. The production of toxins capable of causing cytoskeleton-dependent changes was detected in a large number of Vibrio strains. These findings indicate a significant presence of potentially pathogenic Vibrio strains along the Adriatic coast. (+info)