Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene.

Using a Sendai Virus based vector delivering Yamanaka Factors, we generated induced Pluripotent Stem Cells (iPSCs) from peripheral blood mononuclear cells of a patient affected by Ataxia Telangiectasia (AT), caused by a novel homozygous deletion in ATM, spanning exons 5-7. Three clones were fully characterized for pluripotency and capability to differentiate. These clones preserved the causative mutation of parental cells and genomic stability over time (>100 passages). Furthermore, in AT derived iPSCs we confirmed the impaired DNA damage response after ionizing radiation. All these data underline potential usefulness of our clones as in vitro AT disease model.

[The caregiver in oncology: duties and needs]. / Il caregiver in oncologia: tra ruolo e bisogni.

Cancer is not only an individual problem, but it affects the entire family, disrupting relationships, daily routines and social relations. In our country, assistance to cancer patients is mostly the responsibility of the family and in particular, of those who are in charge with administering the treatment: the caregivers. Based upon scientific research, the present paper is aimed at focusing attention to caregivers, going through their responsibilities during the different stages of the disease and the possible outcomes on their well-being and quality of life. The caregiver meets the patient's requirements mainly in two respects: medical nursing care and emotional well-being. Research demonstrated the outcomes on the psychological and physical balances and on the daily activities of the family as well as the professional and social areas. The caregiver has a variety of practical and emotional needs. In particular one need goes throughout all the stages of the disease: a clear and correct communication, that could improve the relationships between patient, caregiver and physician, providing exhaustive and comprehensible information about all the aspects of the disease. The caregiver, in fact, takes on responsibilities that are physically and emotionally demanding, considering that he/she does not have any specialisation for this role. On this basis, more information is needed about the disease and more psychological support, with special reference to emotional aspects.