Dementia-related genetic variants in an Italian population of early-onset Alzheimer’s disease

Early-onset Alzheimer’s disease (EOAD) is the most common form of early-onset dementia. Although three major genes have been identified as causative, the genetic contribution to the disease remains unsolved in many patients. Recent studies have identified pathogenic variants in genes representing a risk factor for developing Alzheimer’s disease (AD) and in causative genes for other degenerative dementias as responsible for EOAD. To study them further, we investigated a panel of candidate genes in 102 Italian EOAD patients, 45.10% of whom had a positive family history and 21.74% with a strong family history of dementia. We found that 10.78% of patients carried pathogenic or likely pathogenic variants, including a novel variant, in PSEN1, PSEN2, or APP, and 7.84% showed homozygosity for the ε4 APOE allele. Additionally, 7.84% of patients had a moderate risk allele in PSEN1, PSEN2, or TREM2 genes. Besides, we observed that 12.75% of our patients carried only a variant in genes associated with other neurodegenerative diseases. The combination of these variants contributes to explain 46% of cases with a definite familiarity and 32% of sporadic forms. Our results confirm the importance of extensive genetic screening in EOAD for clinical purposes, to select patients for future treatments and to contribute to the definition of overlapping pathogenic mechanisms between AD and other forms of dementia

The constraint operator of MedLan: Its efficient Implementation and Use

The Constraint Operator of MedLan: Its Efficient Implementation and Us

Language Extensions for Semantic Integration of Deductive Databases

. A language in support of semantic integration of deductive databases is proposed. The language allows one to construct mediators by extending logic programming with a suite of operators for composing programs and message passing features. The abstract semantics and implementation techniques of the extensions are discussed, and an example of integration of databases supporting libraries and departments is used to illustrate the usefulness of the approach. 1 Introduction At present, in the database area, much attention is devoted to studying the possibility of integrating different databases or, in any case, databases which have been developed within other projects, and that may be resident at different sites [19]. This issue has been largely studied in the past decades giving rise to approaches such as federated databases, multidatabases, interoperable databases or mediators. Here, we focus on integration of deductive databases. The problem is twofold: -- at the lower level, how to..

An Operator for Composing Deductive Data Bases with Theories of Constraints

An operation for restricting deductive databases represented as logic programs is introduced. The restrictions are represented in a separate deductive database. The operation is given an abstract semantics in terms of the immediate consequence operator. A transformational implementation is given and its correctness is proved with respect to the abstract semantics. 1 Introduction Deductive Databases can potentially solve many problems in the field of data and knowledge management. However, in order to make the approach really viable, it is necessary to define an environment at least as rich as the one which has been developed for other kinds of database management systems. At present, in the database area, a lot of attention is devoted to studying the possibility of combining different databases or, in any case, databases which have been developed within other projects, and that may be resident at different sites. The goal generally can be seen from the point of view Work partially ..

Semantic Integration of Deductive Databases

A language in support of semantic integration of deductive databases is proposed. The language allows one to construct mediators by extending logic programming with a suite of operators for composing programs and message passing features. The abstract semantics and implementation techniques of the extensions are discussed, and an example of integration of databases supporting libraries and departments is used to illustrate the usefulness of the approach. 1 Introduction At present, in the database area, much attention is devoted to studying the possibility of integrating different databases or, in any case, databases which have been developed within other projects, and that may be resident at different sites [19]. This issue has been largely studied in the past decades giving rise to approaches such as federated databases, multidatabases, interoperable databases or mediators. Here, we focus on integration of deductive databases. The problem is twofold: ffl at the lower level, how..

Applying Restriction Constraints to Deductive Databases

definition We are now in the position to give an abstract definition of the constraint operation that restricts a deductive database with respect to a database of constraints. The abstract definition is given via the notion of immediate consequence operator. The immediate consequence operator T (P ) associated to a logic program P is a function that states which consequences are deduced from a given interpretation Aquilino, Asirelli, Renso, Turini / Restriction Constraint in DDBs 9 by the program P in a single inference step. The abstract definition of an operation on logic programs can then be given in a compositional way by defining the immediate consequence operator of the resulting logic program as a composition of the immediate consequence operators of the argument programs. We recall now the basic definition of immediate consequence operator and the definition of two basic operations on logic programs: union and intersection [9] For a logic program P , the immediate consequen..

Impiego di sostanze naturali contro miceti patogeni di colture orticole

Vengono riportati i risultati di una prova biennale di lotta contro malattie fungine in piante orticole con impiego di sostanze di origine naturale, vegetale, minerale, antagonisti. In campo, su pomodoro (Alternaria alternata, Alternaria solani e Cladosporium fulvum) melone (Sphaerotheca fuliginea) e lattuga (A. alternata) si sono dimostrati maggiormente efficaci: Alginato, Micoplan, Bicarbonato di potassio, Microsil 500, Peptiram 5, Beltanol e Poltiglia bordolese, somministrati a cadenza settimanale, mentre in vitro soltanto Beltanol ha rivelato azione fungicida completa anche a basso dosaggio (A. alternata, A. solani, C. fulvum)