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Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate (Articolo in rivista)

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Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate (Articolo in rivista) (literal)

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Rubini M.,1; Brusati R.,2; Garattini G.,3; Magnani C.4; Liviero F.2; Bianchi F.5; Tarantino E.6; Massei A.7; Pollastri S.5; Carturan S.1; Amadori A.1; Bertagnin E.1; Cavallaro A.1; Fabiano A.1; Franchella A.8; Calzolari E.1 (2005)
Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate
in American journal of medical genetics. Part A; John Wiley & sons, Inc., Hoboken (Stati Uniti d'America)
(literal)

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Rubini M.,1; Brusati R.,2; Garattini G.,3; Magnani C.4; Liviero F.2; Bianchi F.5; Tarantino E.6; Massei A.7; Pollastri S.5; Carturan S.1; Amadori A.1; Bertagnin E.1; Cavallaro A.1; Fabiano A.1; Franchella A.8; Calzolari E.1 (literal)

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1Department of Experimental and Diagnostic Medicine, Medical Genetics Unit, University of Ferrara, Ferrara, Italy 2Department of Maxillo-facial Surgery, University of Milan, Milan, Italy 3Department of Dentistry, University of Milan, Milan, Italy 4Department of Obstetrics, Gynecology and Neonatology, University of Parma, Parma, Italy 5Institute of Clinical Physiology, Epidemiology Unit, C.N.R., Pisa, Italy 6Department of Reproductive and Child Health, Clinical Pediatrics Unit, University of Pisa, Pisa, Italy 7Plastic Surgery Unit, A.O. Pisana, Pisa, Italy 8Department of Surgical Anesthesiological and Radiological Sciences, Surgical Pathology Unit, University of Ferrara, Ferrara, Italy (literal)

Titolo

Cystothionine beta-synthase c.84ins68 gene variant and non-syndromic cleft lip and palate (literal)

Abstract

Objective - A door-to-door two-phase study was designed in order to estimate the prevalence of cognitive deficit amongst the residents of a district in Tuscany (central Italy). Identification of cases with mild cognitive impairment (MCI) was given high priority, because this condition has been suggested as a term for the boundary area between normal aging and dementia. Methods - Of the 1600 subjects who completed the screening phase, 354 scored under the cut-off point of the Mini Mental State Examination and Clinical Dementia Rating and were investigated by means of a standardized diagnostic protocol. Results - The prevalence of MCI and age-related cognitive decline was 4.9 and 9.3%, respectively; low levels of education significantly increased the risk of these conditions. The prevalence of dementia over age 65 was 6.2%, with a significant risk association with age. In our population, Alzheimer's disease was the most frequent type of dementia (prevalence rate 4.2%) and increased risk depending on age, sex and education has been found. Conclusions - Our findings are somewhat similar to previous studies. Further epidemiological and longitudinal studies are warranted to identify which diagnostic category is more predictive for dementia. (literal)

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