Budget impact analysis of universal rotavirus vaccination in the Local Health Unit 11 Empoli, Tuscany, Italy.

BACKGROUND: Rotavirus (RV) infection is the first cause of acute viral gastroenteritis in children under five years of age all over the world; it mainly affects children between six and 24 months of age and can cause serious acute diarrhoea and dehydration. The aim of this study is to perform the budget impact analysis of universal rotavirus vaccination in the Local Health Unit (LHU) 11 Empoli, Tuscany, Italy. METHODS: An ad hoc mathematical simulation model was developed to evaluate the budget impact analysis of 5-years universal rotavirus vaccination. Particularly, incidence of rotavirus gastroenteritis (RVGE), hospitalizations, nosocomial diarrhoea, medical consultations, prescriptions and accesses to emergency department were taken into account in the analysis. The direct medical costs due to RV diarrhoea and the costs of vaccination campaign were considered as the main outcome measures in the study. RESULTS: The adoption of universal rotavirus vaccination campaign for five years in the LHU 11 Empoli would result in relevant savings due to the health cares avoided. These savings would overlapped the costs of vaccination yet from the second year after the introduction of vaccination. The saving for the Health Service would be 1.5 million Euro after five years of campaign. CONCLUSIONS: Universal vaccination against rotavirus results clinically and economically favourable for both the Health Service and the Society perspectives.

Diabetes screening in primary care: the PRE.DI.CO. study.

BACKGROUND: The prevalence of type 2 diabetes is rapidly and constantly increasing worldwide. The PRE.DI.CO project (Prevention of Diabetes in the Val di Cornia area) is a prevalence survey that aims to identify individuals at high risk for type 2 diabetes or unknown diabetes. METHODS: A total 658 subjects, aged 35-70 years, were administered the FINDRISC (Finnish Diabetes Risk Score) questionnaire to identify persons at risk of diabetes. Using anamnestic data (age, sex, total cholesterol, blood pressure and cigarette smoking), we calculated the European Heart Score to estimate the individual cardiovascular risk, and we also collected information on fasting glucose, HDL cholesterol, triglycerides and the main current therapies. Persons at high risk took an oral glucose tolerance test (OGTT). RESULTS: In total, 45.3% of the subjects were at low risk, 33.1% at moderate risk, 17.0% at high risk and 4.9% at very high risk. The OGTT was performed for 124 patients, and 42.7% of the cases showed normal glucose tolerance. Impaired Glucose Fasting (IFG) was identified in 30.6% of subjects, impaired glucose tolerance with or without IFG in 12.1%, and newly diagnosed diabetes in 14.5% of the cases. With the rise in the FINDRISC score, we also observed an increased risk of mortality at 10 years for cardiovascular disease, estimated by the Heart Score. CONCLUSIONS: The intervention methodology and applicability of the FINDRISC questionnaire are valid for identifying persons at risk of diabetes in primary care.

Meiotic origin of two ring chromosomes 18 in a girl with developmental delay.

We report on the cytogenetic, fluorescence in situ hybridization (FISH), and molecular results obtained for a patient with a mild and nonspecific pattern of minor anomalies and developmental delay. In the proband's karyotype one chromosome 18 was replaced by a ring chromosome 18 in all metaphases, with deletion of the terminal regions. Furthermore, 56% of the metaphases contained a supernumerary small ring chromosome. Microdissection followed by FISH analysis demonstrated that the small ring chromosome consisted of material from the pericentromeric region of chromosome 18. The karyotype was defined as 46,XX,r(18)(p11.3q23)[88]/47,XX,r(18)(p11.3q23)+r(18)(p11.22q12.2)[112]. Thus, the patient has a deletion at 18pter and at 18qter, and a mosaic partial trisomy of the pericentromeric region of chromosome 18. We undertook molecular analysis using DNA samples of the patient and her parents in order to clarify the origin and possible mode of formation of the chromosome abnormalities. Our results show a paternal origin of the structurally normal chromosome 18 and a maternal origin for both ring chromosomes 18. Interestingly, the smaller ring chromosome did not arise postzygotically from the larger ring, since the two ring chromosomes contain genetic material derived from the two different maternal chromosomes 18. The abnormalities appear to have arisen during a meiotic division, and it could be speculated that both ring chromosomes 18 arose simultaneously due to complex pairing and recombination events. After fertilization, the small ring chromosome was lost in a subset of cells, thus leading to mosaicism.

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

We report a direct DNA sequencing analysis of the MECP2 gene undertaken on a further 64 Italian patients with Rett syndrome by using a LICOR 4200 Automated Sequencer. All of the girls entering the study had a consistent clinical diagnosis for this disorder. All coding regions and the flanking intronic splice site sequences were amplified as three non-overlapping fragments by using both forward and reverse primers. The results were then compared to the MECP2 reference sequences published in GenBank. Mutations of the MECP2 gene were identified in 64 of 75 (85.33%) unrelated sporadic Rett syndrome girls. Genotype/phenotype correlation studies, in particular in groups of patients with the same mutation, did not offer definitive and interesting data.

Infrared fluorescent automated detection of thirteen short tandem repeat polymorphisms and one gender-determining system of the CODIS core system.

We used an infrared (IR) automated fluorescence monolaser sequencer for the analysis of 13 autosomal short tandem repeat (STR) systems (TPOX, D3S1358, FGA, CSF1PO, D5S818, D7S820, D8S1179, TH01, vWA, D13S317, D16S359, D18S51, D21S11) and the X-Y homologous gene amelogenin system. These two systems represent the core of the combined DNA index systems (CODIS). Four independent multiplex reactions, based on the polymerase chain reaction (PCR) technique and on the direct labeling of the forward primer of every primer pair, with a new molecule (IRDye800), were set up, permitting the exact characterization of the alleles by comparison with ladders of specific sequenced alleles. This is the first report of the whole analysis of the STRs of the CODIS core using an IR automated DNA sequencer. The protocol was used to solve paternity/maternity tests and for population studies. The electrophoretic system also proved useful for the correct typing of those loci differing in size by only 2 bp. A sensibility study demonstrated that the test can detect an average of 10 pg of undegraded human DNA. We also performed a preliminary study analyzing some forensic samples and mixed stains, which suggested the usefulness of using this analytical system for human identification as well as for forensic purposes.

Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.

Early menopause in the fragile X carriers has been well documented in several reports. All surveys demonstrated that 13-25% of fragile X carriers experienced premature ovarian failure (POF), defined as menopause before the age of 40 years. In 1995 we started screening two groups of subjects as a part of a Fragile X Research Program: 1) women previously diagnosed as fragile X carriers from the register of our center and 2) women with POF and without a family history of fragile X or other forms of mental retardation. In this study we report the preliminary data collected from 75 fragile X families; in 30 of them, POF was present in one or several subjects, all of whom had a fragile X premutation. None of the women with a full mutation experienced POF in our series of patients. We also identified 89 families without a family history of fragile X or mental retardation, and there were 108 subjects who experienced POF, of which 6.5% had a fragile X premutation. This is 70-fold higher than the background prevalence of fragile X premutation in the Italian population and suggests an association with POF. These data confirm the results of other surveys.

Four cases of trisomy 9p syndrome with particular chromosome rearrangements.

The authors present four children, two males and two females, with a 9p duplication, derived from various chromosome rearrangements, diagnosed using clinical, cytogenetic and biochemical evaluations. In particular, GALT dosage allowed them to define with accuracy the different chromosome break-points.