0000000000368899
AUTHOR
Inmaculada Serra
Genetics of retinoblastoma: A study
Abstract We have analyzed 43 families with either familial retinoblastoma (RB) (four kindreds), bilateral sporadic RB (10 individuals), or unilateral sporadic RB (29 individuals). Genetic studies focused on karyotype analysis, loss of heterozygosity of intragenic polymorphisms, and search for point mutations. We have been able to identify the genetic defect underlying the disease in eight cases. Deletions have been found in three patients with sporadic RB, two bilateral in one of which karyotyping had previously detected an interstitial deletion of chromosome 13 affecting (q13–q31) and one unilateral. Five different point mutations were responsible for three cases of bilateral sporadic RB, …
The Economic Value of Volunteer Work
Despite the socioeconomic interest that is associated with volunteer work, the practice of valuing it is limited, and few scientific advances have been made. In this context, this study first analyses why these advances are scarce, paying special attention to the limitations of micro- and macro-accounting systems, including volunteer work accounts. It then proposes a method with heuristic capacity for valuing the various economic dimensions of volunteer work. The third part of this article applies this proposal to social and environmental volunteer work in the Spanish region of Valencia. The conclusions bring to focus the fact that whereas the technical obstacles faced in conducting empiri…