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Molecular characterization of trimethoprim resistance in salmonellas isolated in Sicily, 1985-1988.

The occurrence of trimethoprim (Tp) resistance in salmonellas isolated from humans and water samples in Sicily between 1985 and 1988 has been investigated and the Tp resistance mechanisms have been further characterized on the basis of hybridization with probes for the dihydrofolate reductase (DHFR) genes types I, II, IV and V. Of 765 strains examined, high level (> 1000 mg/l) resistance to Tp was identified in 23 strains (3%). In 22 of these strains, such resistance was associated with resistance to sulphonamides. Six serovars with Tp-resistant strains were identified, Salmonella typhimurium (14 strains), S. enteridis (2), S. agona (2), S. mbandaka (2), S. virchow (2), S. indiana (1). In all strains with high level Tp resistance, resistance to this antimicrobial was plasmid-encoded, in most strains by plasmids with MWs ranging from 70-100 MDa. On the basis of restriction endonuclease analysis, four different categories of Tp resistance plasmids were identified in Tp-resistant strains of S. typhimurium. Hybridization with the DHFR I probe was observed in three strains of Tp-resistant S. typhimurium and two strains of Tp-resistant S. enteritidis; in contrast, in none of the strains tested was there any detectable hybridization with the probes for DHFR types II, IV and V. It is concluded that the DHFR type I resistance mechanism, common in Tp-resistant enterobacteria in many European countries, is relatively uncommon in Tp-resistant salmonellas isolated in Sicily. Furthermore, the DHFR V resistance mechanism, previously identified in strains of Shigella sonnei isolated in Sicily and associated with travellers from Sri Lanka, has not yet appeared in salmonellas in Sicily.

Acute Disease

Epidemiology and clinical characteristics of endemic cretinism in Sicily.

In this study we report the prevalence of endemic cretinism in the general population of two iodine deficient areas in Northeastern Sicily that were described more than 10 yr ago. In addition, the individual characteristics of endemic cretins are considered in order to define the typical expressions of this major iodine deficiency disorder in Sicily. Forty-three mental defectives were identified: 22 were living in an area with three bordering and closely connected municipalities within the province of Messina and with a population of 17,485 inhabitants (prevalence = 0.13%). Three out of the 22 were school-age children. The other community, in the province of Catania, was constituted by a unique and mostly agricultural hamlet, and showed a prevalence of cretinism that was 0.68% (21/3,100). Among the 43 mental defectives, 16 (37%) presented prominent neuromotor and neurosensorial disorders, including deafmutism and were euthyroid, thus conforming to the neurological type of cretinism; 13 (30%) were hypothyroid and exhibited stunted growth without significant neuromotor and neurosensorial impairment (myxedematous cretins). In the remaining 14 individuals (33%) neurological disorders were associated with stunted growth and clinical or biochemical hypothyroidism. These data indicate that also in Sicily endemic cretinism is a continuum of a variety of forms: among these the pure neurological and pure myxedematous forms represent the two extremes. Our observations also indicate that endemic cretinism still represents a major public health problem in Sicily. The finding of 3 endemic cretins younger than 13 yr suggests the persistence of this disorder even in the presence of improved economic, social and nutritional conditions.

Adolescent

Multiple sclerosis in southern Europe. I: Prevalence in Sicily in 1975.

Previous reports on large population groups have suggested that the prevalence of multiple sclerosis (MS) in Sicily and southern Italy is low, of the order of 4-8 per 100 000. In contrast, immigrants from Italy resident in Greater London, many of whom are from southern Italy and Sicily, had a hospitalised MS prevalence similar to that found among people born in the United Kingdom (1960-72). The present study shows that in Enna city (population 29 000) in central Sicily, the prevalence of probable MS was 53 per 100 000, which is of the same order of magnitude as has been reported from the United Kingdom and northern Europe. The high prevalence of MS found in Enna city may be due, at least in part, to the fact that the population studies was small. Because Enna is on high ground, similar studies are being undertaken in two small coastal towns of Sicily.

Adult

Genetic and cultural transmission in Sicily as revealed by names and surnames.

The study of names as cultural characters and of surnames, which behave like genetic markers, is useful for comparing cultural and genetic transmission. Genetic transmission has a unique vertical component, which also can be present in the transmission of cultural traits associated with a horizontal (or epidemic) component resulting from local customs or fashion. Our aims in this study are to infer genetic patterns in Sicily from surnames and names and to evaluate and compare the consequences of vertical versus horizontal transmission of cultural markers. Names and surnames of 88,383 consanguineous spouses collected in 16 dioceses of Sicily were analyzed by multivariate analysis to reveal and compare the geographic clusters obtained from both sets of data. As a result, both data sets indicate a major separation between the eastern and the western region of Sicily. Also, distance matrices obtained from names are highly correlated with those from surnames. But names seem to form fewer and larger geographic clusters, whereas surnames are more greatly subdivided into smaller clusters. The most common male names present a different pattern from surnames. Vertical transmission is the cause of the similarity of the main geographic patterns of names and surnames and their correspondence with findings from geography of genes, and horizontal cultural transmission explains the major differences. Furthermore, the genetic and cultural affinities can be correlated with the historical background of Sicily.

Cluster Analysis

Genetic structure of the population of Sicily.

Genetic heterogeneity within Sicily was investigated on the basis of ACP1, ADA, ESD, GLO1, PGD, PGM1, PGM2, SODA, ABO, and MN gene frequencies, and compared to those of other regions of Italy for which these same loci have been examined. Correspondence analysis revealed no differences within the island, at least at the provincial level, but showed genetic differentiation among Italian regions, distinctly clustering northern, central, and southern populations, respectively. These data indicate a close relationship between Sicily and southern Italy. In addition, the contribution of Middle Eastern populations to the gene pool of Sicily was evident.

ABO Blood-Group System

Delta infection in eastern Sicily.

Sera from 619 HBsAg+ subjects living in eastern Sicily, consecutively collected from 1975-1985, were tested for markers of delta virus (HDV) infection: delta antigen (HDAg), antibodies to delta (anti-HDIg), and also for antibodies to HBcore of IgM type (anti-HBcIgM) and for the system HBe-anti-HBe. The subjects included 210 asymptomatic carriers, 238 patients with acute hepatitis and 171 patients with chronic liver disease. HDAg was not found in any of the samples. Anti-HD was found in 28/171 (16.3%) patients with chronic liver disease, in 13/210 (6%) asymptomatic HBsAg carriers and in 13/238 (5.4%) patients with acute hepatitis. None of our patients were drug addicts. One had a history of blood transfusion, and nine came from the same family unit. The prevalence of HDV infection in eastern Sicily is lower than in other areas of Sicily possibly because of the lower percentage of HBsAg carriers in the local population. Parenteral transmission of HDV does not seem to play a major role in our area, while the familial clustering suggests close body contact as an important way of spread.

Adolescent

Endemic cretinism in Sicily.

This work reports the presence of endemic cretinism in a small district located inside an endemic goiter area in north-eastern Sicily, personally described. The study covers 19 mental defectives (11 females and 8 males, mean age 35.8 +/- 15.5 yr) selected on the basis of severe mental retardation recognized by the local doctors. No systematic survey for cretinism was carried out in the total population. Marked mental retardation was evident in all subjects. Nine of them exhibited clinical and biochemical signs of hypothyroidism (myxedematous cretins). The 10 others were clinically euthyroid and had deaf-mutism and/or pyramidal tract dysfunction (neurological cretinism). Familial aggregation of cretinism was also observed. In both myxedematous and neurological cretins and urinary iodine excretion was very low, but not significantly different from that recorded in the euthyroid controls of the same area. The data available do not clarify the pathogenesis of endemic cretinism in Sicily. However, the marked height retardation, the observation of delayed bone maturation and the severity of mental deficiency suggest that thyroid failure was present in early life. The presence of endemic cretinism today in Sicily constitutes a strong argument in favour of the immediate introduction of adequate iodine prophylaxis.

Adolescent

A further study on the prevalence of multiple sclerosis in Sicily: Caltanissetta city.

The prevalence of probable multiple sclerosis (MS) in Caltanissetta city, Sicily, is at least 51 per 100,000. If possible multiple sclerosis patients are included, it is 54 per 100,000. This value is similar to that found in other cities in Sicily: Enna, Monreale and Agrigento. The high prevalence of multiple sclerosis in Caltanissetta confirms the previous data on Sicily and emphasises the importance of small population studies in the epidemiology of MS.

Adolescent

Association of Hb S/Hb lepore and delta beta-thalassemia/Hb lepore in Sicilian patients: review of the presence of Hb lepore in Sicily.

The hemoglobin (Hb) lepore-Boston is a beta-globin structural variant, produced in a reduced amount and formed from the fusion of N-terminus delta-(residues 1-87) and C-terminus beta-chains (residues 116-146). This type of fusion protein is quite common in Southern Italy (Campania, Calabria, and Sicily). We report here the hematological and hemoglobin data on 96 unrelated Sicilians with Hb lepore trait. Particularly interesting are the subjects where Hb lepore occurs with Hb S or Sicilian type delta beta-thalassemia. In these individuals, striking features are clinical variability and different hematological pictures. These observations underscore the importance of thalassemia screening in these geographic areas, such as Southern Italy, principally Sicily, where the mutations in globin gene clusters are especially prevalent. Moreover, as from the second half of the last century, owing to high migratory flux from Sicily to Northern Europe, North and South America, and Australia, the Hb lepore, as well as other hemoglobin variants, have become prevalent, making the identification of the heterozygotes a problem of general interest.

Adolescent

Sickle cell disease in Sicily.

The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mechanical precipitation rate of oxyhaemoglobins, and minimum gelling concentration, as well as by peptide mapping and amino-acid analysis of all beta-chain peptides. Taken together with the presence in Sicily of African blood group markers and certain historical considerations, it seems clear that the source of Hb S in Sicily is Africa. While the clinical severity in nine Sicilian children did not seem remarkably different from the disease in the USA, the most severe and fatal complications were not seen. Mean Hb F Was 10.5% and 2,3-diphosphoglycerate (2,3-DPG) values were higher in Sicilian homozygotes than in black USA counterparts (21.79 mumol/g Hb vs 15.16). Red cell AT values were also slightly higher in Sicilian patients. The presence of concomitant thalassaemia was excluded by both family studies and globin chain synthetic ratios. In conclusion, haemoglobin S in Sicilian homozygotes is identical to Hb S found in USA blacks. Although the severity of the disease seems quite similar in both groups of patients, other erythrocytic properties were found to be different. Whether these factors influence severity remains to be elucidated.

Adenosine Triphosphate

HLA associations with multiple sclerosis in Sicily and Malta.

The islands of Sicily and Malta have very different prevalence rates for multiple sclerosis (MS): at least 44 per 100,000 in Sicily and only 4 per 100,000 in Malta. In Northern Europe, MS is associated with HLA-DR2/Dw2. The other components of the commonest DR2-containing haplotype of this region, HLA-A3-B7-DR2-Dw2, also tend to be present at higher frequency in MS patients. HLA Class I and II antigen frequencies and associations in controls and MS patients from Sicily and Malta were studied to discover whether they might account for the difference in MS prevalence. In Sicilian MS patients, DR2 is increased in frequency compared with controls and four out of five DR2-positive patients also type as Dw2. In the Maltese population, DR2 is present at high frequency but approximately half of the DR2 positive individuals do not type as Dw2 so that DR2 is probably most commonly present as part of Class II haplotypes other than those commonly associated with MS. Additional differences in HLA profile of the Sicilian and Maltese populations were found when HLA-A, -B, and B-DR antigen associations were examined. Therefore, some of the difference in MS prevalence might be explained by genetic factors.

Cross-Sectional Studies

[Acute lymphoblastic leukemia in children. Results of treatment in Sicily 1987-1992].

OBJECTIVES: For several years, children in Sicily with acute lymphoblastic leukaemia have been treated locally at the University of Catania. We compared the results of locally treated children with the results obtained at other centres. METHODS: The diagnosis of acute lymphoblastic leukaemia (ALL) was made in 78 children in the haematology and oncology division of the University of Catania, Sicily, From January 1987 to December 1992. Patients diagnosed before December 1990 were treated with the protocol ALL 87 including prednisone, vincristine, daunorubicine, L-asparaginase and intrathecal methotrexate. Total duration of treatment was 25-26 months. For patients diagnosed after December 1990, the protocol 90-91 used the same drugs for induction and three intrathecal drugs (methotrexate, cytarabine and prednisone) as well as cyclophosphamide to prolong induction in intermediary risk patients. Only high risk patients received cerebral irradiation. Total duration of treatment was 2 years. Full follow-up data were available for 76 patients. RESULTS: Survival rate without relapse was 66% and the 5-year survival rate was 82.7%. These results were comparable with those published by other international groups. In addition, particular attention was given to psychological support to decrease the deleterious effects of both the disease and the treatment protocols. CONCLUSION: These results demonstrate that ALL children can be cared for locally in Sicily without risking poorer outcome. It would be preferable to treat these children as near as possible to their area of residence in order to diminish the psychological trauma resulting from long-term hospitalization far from their family.

Age Factors

Molecular characterization of hemoglobin C in Sicily.

Analysis of polymorphisms of the beta-globin gene cluster was performed on 12 families and on one unrelated individual of Sicilian origin who carried hemoglobin C (Hb C). Two different haplotypes were found in association with beta c Sicilian alleles, corresponding to haplotypes I and II previously described in American blacks. In our population, the more frequent one (haplotype I) was linked to the lack of a polymorphic HpaI site 3' to the beta gene (13.0-kb fragment), similarly to haplotype I in blacks, while the less frequent one was linked to a 7.0-kb HpaI fragment attributable to a site that had never been previously described in linkage with beta c alleles. In Italy, these two haplotypes have been found in rare cases in association with beta A alleles. These findings provide new insights into the origin of Hb C present in Sicily, suggesting that (1) the beta c mutation detected in Sicily derived from African black chromosomes and does not represent a new mutation; and (2) Hb C may have originated either by multiple mutational events on separate chromosomes or by mutation in the HpaI site 3' to the beta gene in a pre-existing beta c chromosome.

Alleles

A study on oral rehydration therapy of diarrheal disease in western Sicily.

A longitudinal study to ascertain the most common therapeutic approach to diarrheal disease by general practitioners and pediatricians was carried out in Western Sicily. Data obtained showed that of 902 home-managed cases of diarrhea observed by 58 physicians during one year, 65.3% were treated with antibiotics, 8.0% with antimotility agents and 26.7% were not treated with any pharmacological agent (rehydration or diet). Although oral rehydration therapy was widely known by physicians in Western Sicily, only a few of them were willing to use it routinely as the principal and exclusive treatment.

Anti-Bacterial Agents

Population structure of Sicily: beta-thalassemia and HbS.

The population structure of two alleles with similar characteristics, HbS and beta-thalassemia, was studied in the same area in Sicily. It was observed that beta-thalassemia has uniform frequencies over the island, and that HbS shows a South-North cline. A singularity exists for HbS in the town of Butera, where the frequency of the S gene is six times higher than the island average. It was suggested that HbS entered Sicily from Greece (or directly from North Africa) when the beta-thalassemia allele was already established in the Island.

Alleles

Incidence of type I diabetes in the district of Catania, Sicily.

The incidence of type I (insulin-dependent) diabetes was determined in the district of Catania (eastern Sicily) in children under 15 years of age over a 3-year period (1 January 1989 to 31 December 1991). Two independent sources of information were used. The primary source was contact with all medical services in the province, and the secondary source was the personal identification cards issued to all diabetic patients by the National Health System necessary for obtaining free medical care. The information obtained was 99.6% complete. The overall incidence was 10.2/10(5) per year. This study provides the first standardized data on the incidence of type I diabetes in Sicily and is consistent with the possibility of regional deviations from the proposed north to south gradient.

Adolescent

The prevalence of multiple sclerosis in Sicily. I: Monreale city.

The prevalence of probable multiple sclerosis in Monreale city, close to the university city of Palermo, Sicily, is at least 43 per 100 000. If the possible multiple sclerosis patient is included, it is 47 per 100 000. This prevalence is not significantly different from that found in Enna city, 53 per 100 000. The prevalence in Sicily and, no doubt, in Italy has, in the past, been seriously underestimated. This confirms the need for thorough studies of small populations if many patients are not to be overlooked in a prevalence survey.

Adult

Reemergence of Shigella dysenteriae type 2 in Sicily: an epidemiological evaluation.

Three strains of Shigella dysenteriae type 2 were isolated from a small household outbreak which occurred in Palermo, Sicily, during summer 1990. Two isolates were recovered from hospitalized patients and one from an asymptomatic carrier. The infection could not be associated with travel to foreign countries or contact with travellers returned from abroad. Since 1953 S. dysenteriae has been never isolated in Southern Italy. The isolates from dysentery cases were susceptible to antibiotics and carried a plasmid of 120 MDa associated with a small cryptic plasmid; in contrast, the strain isolated from the healthy carrier contained an additional plasmid of approximately 40 MDa, which codified for resistance to ampicillin, streptomycin, sulfamethoxazole and trimethoprim. All strains showed some atypical biochemical properties, but their rRNA-DNA patterns of hybridization were closely similar to that of the reference strains of type 2 and easily distinguishable from those of the other types of non-Shiga bacillus reference strains. Epidemiological isolation features of these strains suggest a possible circulation of this Shigella species in Sicily. Genetic characterization of these strains may be useful for surveillance of infections by this organism.

Adult