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Background and Purpose: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders, characterized by a progressive spasticity of the lower limbs. So far, 33 different loci (SPGs) have been mapped and the 15 genes responsible have been identified. We mapped a locus responsible for a form of spastic paraplegia, complicated by bilateral cataracts, gastroesophageal reflux with persisting vomiting and amyotrophy to chromosome 10q23.3-q24.2, in an Italian family. The critical region was in a 12 cm chromosomal interval between markers D10S564 and D10S603 (SPG9, MIM601162). In the same region, two other forms of HSP have been recently mapped: SPG27 and SPG33. In the latter case, the gene responsible has been identified., Materials and Methods: To better characterize this region, we genotyped individuals from SPG9-linked families using additional markers and reduced the candidate region to a 4.8 Mb, excluding several genes by positional cloning., Results: The refined SPG9 locus is positioned completely within SPG27 and does not include the SPG33 gene., Discussion: Fifty-two transcripts are present in the refined critical region and 25 strong candidates have been excluded as disease causing genes by direct sequencing. Six of them were also excluded as responsible for SPG27.

Aim: The aim of the study was to investigate the frequency of breastfeeding among children with Down syndrome., Methods: The mothers of 560 children with Down syndrome attending four university hospitals in Italy were interviewed and the neonatal clinical records retrieved. Information was collected on the type of infant feeding and on why some mothers had not breastfed their children. Two groups of healthy children whose feeding habits had been previously investigated were recruited as control subjects (1601 and 714, respectively). A paediatrician in each hospital was interviewed about the neonatal admission policy of children with Down syndrome., Results: Among the 560 Down children, 246 (44%) were admitted to the neonatal unit. Compared with the two control groups, children with Down syndrome were significantly more frequently bottle-fed (57% vs 15% and 24%, respectively, odds ratio 7.5, 95% CI 6.0-9.4 and 4.2, 95% CI 3.3-5.4. respectively). Only 30% of infants admitted to the neonatal unit were breastfed. The main reasons reported by the mothers for not having breastfed were infants' illness in infants who had been admitted to the neonatal unit and frustration or depression, perceived milk insufficiency and difficulty with suckling for those babies who had not been admitted to the unit. The paediatricians reported that the admission of a baby with Down syndrome to the neonatal unit could sometimes take place not for medical reasons, but for diagnostic work-up or for a more appropriate diagnosis and to maintain communication with the family., Conclusions: Down syndrome babies are less frequently breastfed compared with healthy children. Support in breastfeeding should become a relevant point of health supervision for children with Down syndrome.

Background: Hepatitis C virus (HCV) infection is common worldwide but there are different prevalence rates in different countries. Data on the incidence of HCV in the general population are scarce. Spontaneous viral clearance occurs in 10-25% of infected individuals after acute infection yet controversy exists regarding the frequency of spontaneous clearance during the natural course of HCV infection in the general population., Aims: Anti-HCV prevalence, HCV infection rate, and the kinetics of anti-HCV were studied in a cross section of the general population of central Italy., Study Population and Methods: Anti-HCV prevalence (EIA-3 Ortho, RIBA-3 Ortho Chiron) was estimated in 3884 randomly selected individuals. Infection rate and antibody kinetics were estimated in 2032 participants for whom a second blood sample was taken after a median follow up of seven years. HCV-RNA determination by polymerase chain reaction was performed on follow up sera., Results: The overall confirmed anti-HCV prevalence was 2.4%. Two participants seroconverted for anti-HCV, giving an overall infection rate of 1.4 cases per 10 000 person years (95% confidence interval 0.2-5.2 per 10 000 person years). Of the 36 individuals confirmed as anti-HCV positive at enrollment, seven (19.4%) showed complete seroreversion. Seven (87%) of the eight individuals with indeterminate results at enrollment were serologically non-reactive at the end of follow up. Of the 25 participants confirmed to be anti-HCV positive at both enrollment and follow up, 23 (92.0%) with stable serological profiles tested positive for HCV-RNA at the end of follow up., Conclusions: There is still a permanent risk, although low, of HCV spread in the general population in an area of low level endemicity. In this setting, a wide spectrum of modifications of viral and antibody patterns can be observed in HCV infected patients.

Objectives: This study sought to verify the independent role of heart rate in the prediction of all-cause, cardiovascular, and noncardiovascular mortality in a low-risk male population., Methods: In an Italian population-based observational study, heart rate was measured in 2533 men, aged 40 to 69 years, between 1984 and 1993. Data on cardiovascular risk factors were collected according to standardized procedures. Vital status was updated to December 1997., Results: Of 2533 men followed up (representing 24,457 person-years), 393 men died. Age-adjusted death rates for 5 heart rate levels showed increasing trends. The adjusted hazard rate ratios for each heart rate increment were 1.52 (95% confidence interval [CI] = 1.29, 1.78) for all-cause mortality, 1.63 (95% CI = 1.26, 2.10) for cardiovascular mortality, and 1.47 (95% CI = 1.19, 1.80) for noncardiovascular mortality. Relative risks between extreme levels were more than 2-fold for all endpoints considered., Conclusions: Heart rate is an independent predictor of cardiovascular, noncardiovascular, and total mortality in this Italian middle-aged male population.

Background: During menopause, women are more exposed to cardiovascular risk factors, some of them can be easily modified by primary and secondary prevention. This paper describes some demographic indicators and cardiovascular risk factors among Italian women., Methods: This study describes the Italian women's cardiovascular risk, using the data collected and updated at the end of the 1990s, within the Cardiovascular Epidemiological Observatory, an Italian Collaborative Project of the Istituto Superiore di Sanità and the Italian Association of Cardiologists., Results: Women aged 60 years and over represent 13% of the population; regional differences on mean values of cardiovascular risk factors are evident. Hypertension, hypercholesterolemia, diabetes and obesity are prevalent particularly in Southern Italy and among the social classes in the lowest education level., Conclusions: The data confirm the importance of the main objectives stated by the National Health Plan 1998-2000: promotion of healthier dietary habits, of physical activity, and reduction of smoking habits. This requires specific action to improve women's health condition, to provide for their special needs and to create awareness among women about the importance of preventive action also during the aging process.

Objectives: To verify if hand-grip performance in older men is a predictor of disability., Design: Population-based prospective study., Setting: A sample from the Italian rural cohorts of the FINE study (Finland, Italy, Netherlands Elderly), representative of the general population of elderly men surveyed in 1991 and 1995., Participants: 140 men aged 71-91 years who reported no disability in performing activities of daily living (ADLs), instrumental activity of daily living (IADLs) and mobility activities at baseline examination and provided information on their functional status at follow-up 4 years later., Measurements: Disability was defined as needing help in performing ADLs, IADLs and mobility. Hand-grip strength was evaluated at baseline by a mechanical dynamometer., Results: After adjusting for potential confounding variables, a lower concentration of high-density lipoprotein cholesterol was the only factor predicting disability in men aged 76 years or younger and only reduced hand-grip strength predicted incident disability in men 77 years or older., Conclusion: Poor hand strength as measured by hand-grip is a predictor of disability in older people. The hand-grip test is an easy and inexpensive screening tool to identify elderly people at risk of disability.

Analysis of ribosomal DNA (rDNA) restriction fragment-length polymorphism (RFLP) and random amplification of polymorphic DNA (RAPD) was used to investigate the genetic variability and biogeographic distribution of clinical and environmental strains of Cryptococcus neoformans isolated from a limited area of southern Italy, where the selection of a predominant cryptococcal genotype could be expected. All isolates belonged to the species Cr. neoformans variety neoformans serotype A. RFLP analysis of a specific rDNA fragment allowed the distinction of strains of Cr. neoformans from closely related fungal reference species, but neither intraspecies nor intravarieties polymorphism was detected. On the contrary, RAPD fingerprints produced by priming with four different primers [(GTG)5, (GACA)4, M13 core sequence and the 8-mer oligonucleotide (GCGGACGG)] were able to characterize the isolates up to the individual level, indicating the presence of marked heterogeneity among Cr. neoformans serotype A strains in southern Italy.

The study describes changes in cardiovascular risk factors during 10 years of a community intervention program conducted in a rural area in Central Italy. Two areas were involved, one for treatment and one for reference. In 1983-84, 739 men and 859 women in the treatment area and 942 men and 1045 women in the control area, aged 20-69 years, were screened; total and HDL cholesterol, systolic and diastolic blood pressure, fasting blood glucose, smoking habit, weight and height were measured. Between 1983 and 1993 several intervention activities based on community medicine were carried out in the treatment area. They were based on interaction with the local socio-sanitary institutions and school system in order to influence individual persons, small groups and entire community. Major effort was addressed to mass health education, nutrition education, antismoking-propaganda and detection and treatment of hypertension, diabetes and hyperlipidemia.

Objective: To evaluate the value of the Clock Drawing Test (CDT) in predicting cognitive deterioration over a 4-year period, independent of baseline cognitive status evaluated by the Mini-Mental State Examination (MMSE)., Design: A preplanned analysis of data collected during the second (1991) and the third (1995) follow-up of the Italian rural cohorts of the FINE Study (Finland, Italy, the Netherlands Elderly)., Subjects: Of the 427 men (mean age 77.6 +/- 4.1 years; range 72-90 years) interviewed in 1991, 264 survived and were reinterviewed in 1995. The study population included 247 persons who were interviewed and received a complete cognitive evaluation in both 1991 and in 1995., Measurements: Cognitive assessment in 1991 included the MMSE, the Dementia Rating Scale (DRS), and the CDT. The CDT was classified as normal or pathological, based on previously established criteria. The MMSE and the DRS were repeated in 1995., Results: Independent of age and baseline MMSE, score, subjects with pathological CDT compared with normal CDT had lower MMSE scores at follow-up (P < .01). These results were also confirmed by evaluating cognitive decline through its impact on change over time in daily life autonomy, as measured by the DRS (P < .01). Among persons scoring more than 21 on the MMSE, compared with persons with a normal CDT, those with pathological CDT performance were 5.4 (95% CI: 2.1-14.2) and 5.5 (95% CI: 1.6-19.6) times more likely to have a MMSE score below 21 and 18, respectively, 4 years later, independent of age and baseline MMSE score., Conclusions: Findings suggest that the CDT identifies older persons at high risk of cognitive decline and adds prognostic information that supplements the standard MMSE test.

The distribution of some cardiovascular risk factors in a cohort of elderly population is reported. The study population consisted of 427 males aged 71-91, examined in 1991 and belonging to the Italian rural section of the Seven Countries Study on Cardiovascular Diseases. Systolic blood pressure shows an increasing trend with age, with mean levels greater than 160 mmHg in each quinquennium, while the prevalence of hypertension ranges between 60 and 75%. Other risk factors considered such as serum cholesterol, triglycerides, weight, height and smoking habit show decreasing levels with ageing. This trend is clear also for fasting glucose from the age group 76-80.

The susceptibility of hemoglobinic iron to oxidation in the ferric form by action of numerous industrial substances, suggested the use of metHbemia dosage in biological monitoring of professional exposure to such substances. In order to have useful reference values, the metHbemia of 975 male workers, from various parts of Sardinia, was measured at least 12 hours after last work shift. 95% of the examined population had metHbemia values lower than 0,86% of total Hb; such result has been compared with other normal values, found in literature and likely causes of the differences between such values have been discussed. On the basis of our results and on the examination of literature an intervention prospectus is suggested for biological monitoring of exposure to methemoglobinising substances.