Alessandra Cavallaro

Cystathionine beta‐synthase c.844ins68 gene variant and non‐syndromic cleft lip and palate

Non‐syndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with substantial clinical and social impact and whose causes include both genetic and environmental factors. Folate and homocysteine (Hcy) metabolism have been indicated to play a role in the etiology of CL/P, and polymorphisms in folate and Hcy genes may act as susceptibility factors. We investigated a common polymorphism in the cystathionine beta‐synthase (CBS) gene (c.844ins68) in 134 Italian CL/P cases and their parents using the transmission disequilibrium test (TDT). Although no overall linkage disequilibrium was observed, considering the parent‐of‐origin transmission of the CBS 68 bp insertion a significant (P = 0.002) transmission distortion was detected. When children receive the c.844ins68 allele from the mother compared to the father, they show a 18.7‐fold increase in risk for CL/P. This evidence suggests CBS as a candidate gene for CL/P and supports a role of maternal‐embryo interactions in the etiology of CL/P.

Emergence of unusual human rotavirus strains in Salento, Italy, during 2006–2007

BackgroundIn recent years, rotavirus genotyping by RT-PCR has provided valuable information about the diversity of rotaviruses (RV) circulating throughout the world.The purpose of the present study was to monitor the prevalence of the different G and P genotypes of rotaviruses circulating in Salento and detect any uncommon or novel types.MethodsDuring the period from January 2006 to December 2007, a total of 243 rotavirus positive stool samples were collected from children with diarrhoea admitted to four Hospitals in the province of Lecce (Copertino, Galatina, Gallipoli and Tricase).All the specimens were tested for RV by real time PCR and genotyped for VP7 (G-type) and VP4 (P-type) gene by reverse transcription (RT) and multiplex PCR using different type specific primers.ResultsIn course of this study we identified 4 common G&P combinations viz. G2P[8], G1P[8], G2P[4] and G9P[8] amongst 59.8% of the typeable rotavirus positives.Rotavirus G2P[8] was recognized as the most widespread genotype during the sentinel-based survey in Salento.The detection of other novel and unusual strains, such as G2P[10], G4P[10], G8P[4], G9P[11] and G10P[8] is noteworthy.Furthermore, a significant number of mixed infections were observed during the survey period but G3P[8] rotaviruses were not detected.ConclusionThis study highlights the genetic diversity among rotaviruses isolated from children in Salento and the emergence of some novel strains. Therefore, it is highly essential to continuously monitor for these strains so as to assess the impact of vaccines on RV strains circulating in Salento and understand the effect of strain variation on efficacy of presently available vaccines.

Herpes Zoster Associated Hospital Admissions in Italy: Review of the Hospital Discharge Forms

In Italy a specific surveillance system for zoster does not exist, and thus updated and complete epidemiological data are lacking. The objective of this study was to retrospectively review the national hospital discharge forms database for the period 1999–2005 using the code ICD9-CM053. In the period 1999–2005, 35,328 hospital admissions have been registered with annual means of 4,503 hospitalizations and 543 day-hospital admissions. The great part of hospitalizations (61.9%) involved subjects older than 65 years; the mean duration of stay was 8 days. These data, even if restricted to hospitalizations registered at national level, confirm the epidemiological impact of shingles and of its complications.

Sequence analysis of human rotavirus strains: comparison of clinical isolates from Northern and Southern Italy

The surveillance and monitoring of rotavirus (RV)-related diseases, preferably through the establishment of sentinel surveillance sites, are essential for assessing the need for vaccination and the projected results of the vaccine in terms of reducing the burden of disease. The objective of the present study was to compare RV strains isolated in Northern (Ferrara) and Southern (Galatina-LE) Italy. During 2007–2008, 115 RV-positive stool samples were collected from children with diarrhea admitted to the hospitals of Ferrara and Galatina. The specimens were genotyped for VP7 (G-type) and VP4 (P-type) gene by reverse transcription (RT) and multiplex polymerase chain reaction (PCR). A subset of 21 RV strains was randomly selected and characterized by sequence analysis of the VP7 genes. In total, seven G/P combinations (G1P[8], G2P[4], G4P[8], G9P[8], G2P[8], G1P[9], and G2P[10]) were identified. Phylogenetic comparison of the VP7 encoding gene of selected strains showed that there was similarity among RV strains circulating in Northern and Southern Italy. The observation of nucleotide sequence diversity contributes to a better understanding of RV spreading and helps to characterize the various antigenic shifts that could have an impact on vaccine effectiveness.