Genetics and Gene Therapy in Hunter Disease.

Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The consequent enzyme deficiency causes a progressive, multisystem accumulation of glycosaminoglycans, which is the cause of the clinical manifestations involving also Central Nervous System for patients with the severe form of disease. The limits of the currently available therapies for Hunter syndrome, hematopoietic stem cell transplantation and recombinant enzyme replacement therapy, mainly regarding brain achievement, have encouraged several studies which recognized gene therapy as a potential therapeutic option for this condition. In vitro studies firstly aimed at the demonstration that viral vector- mediated IDS gene expression could lead to high levels of enzyme activity in transduced cells. The encouraging results obtained allowed the realization of many preclinical studies investigating the utilization of gene therapy vectors in animal models of Mucopolysaccharidosis II, together with a phase I clinical trial approved for Hunter patients affected by the mild form of the disease. Together to in vivo studies in which recombinant vectors are directly administered, systematically or by direct injection into Central Nervous System, also ex vivo gene therapy, consisting in transplantation of autologous hematopoietic stem cells, modified in vitro, into the animal or patient, has been tested. A wider clinical application of the results obtained so far is essential to ensure that gene therapy can be definitively validated as a therapeutic option available and usable for this rare but life-threatening disorder.

Consumers and foodborne diseases: knowledge, attitudes and reported behavior in one region of Italy.

A survey was conducted to investigate knowledge, attitudes and related behavior on foodborne diseases and food-handling practices among consumers in one region of Italy. A self-administered questionnaire was offered to a random sample of mothers of children attending public schools. Of the 394 responding mothers, 36% knew about all the six foodborne pathogens investigated but only 11.1% correctly indicated six related different food vehicles; education level was a predictor of this knowledge. A positive attitude towards foodborne disease control, significantly higher in older and more educated women, was reported by the great majority, who agreed that improper storage of food represents a health hazard (95.7%), that washing hands before handling unwrapped raw or cooked food reduces the risk of food poisoning (93.2%), and that the awareness of the temperature of the refrigerator is crucial in reducing risk of food poisoning (90.1%). Only 53.9% reported washing hands before and after touching raw or unwrapped food and 50.4% reported using soap to wash hands. A total of 75.6% clean kitchen benches after every use and 81.1% use hot water and soap for this purpose. Only 25.6% thaw food in the refrigerator and 49.9% put leftovers in the refrigerator soon after meals. Washing hands before and after touching unwrapped food was significantly higher in women living in larger families and who had been informed by physicians about foodborne diseases. Educational programs and the counseling efforts of physicians, particularly focused to less educated subjects, are greatly needed.