RESUMEN
BACKGROUND: The study of health-related quality of life in survivors of gynecologic cancers is becoming increasingly important as 1.5 million survivors of gynecologic cancer in the United States and more are expected due to advances in diagnosis and treatment. This project investigated the perceived needs and lived experiences of survivors of gynecological cancer to help design supportive activities to be implemented in clinical practice. METHODS: Patients were recruited in hospitals or through social media and responded to an online survey that was addressed to patients in Italy, specifically in Sicily, Puglia, and Campania. Patients with ovarian, endometrium, or cervix cancer were recruited among women attending Cannizzaro Hospital and Alleanza Contro il Tumore Ovarico (Alliance Against Ovarian Cancer) members. RESULTS: Body image perception was changed in 82.3% of respondents, whereas familial relationships were described as changed by 27.5% of women. In 69.6% of patients, sexual habits were hindered by changes in the body, depression, pain, and awkwardness. Physicians informed patients about sexuality changes related to cancer extensively in 16.7% of cases and briefly in 19.6% of cases. The advice of a clinical sexologist was considered potentially helpful by 31.4% of patients and not potentially helpful by 47.1%, whereas 21.6% of patients had no opinion. CONCLUSIONS: Although sexual habits are often changed by cancer, women surviving gynecological cancer rarely seek medical advice in this area. Physicians should be trained to inform patients and to promote referrals to sexologists.
Asunto(s)
Neoplasias Ováricas , Neoplasias del Cuello Uterino , Femenino , Humanos , Acontecimientos que Cambian la Vida , Calidad de Vida , ItaliaRESUMEN
Fetal hemoglobin (Hb F) is the principal ameliorating factor of ß-thalassemia (ß-thal) and sickle cell disease. Persistent production in adult life is a quantitative trait regulated by loci inside or outside the ß-globin gene cluster. From genome-wide association studies, principal quantitative trait loci (QTL) (accounting for 50.0% of Hb F variability in different populations) have been identified in the BCL11A gene, HBS1L-MYB intergenic polymorphism and the ß-globin gene cluster itself. In this study, we analyzed quantitative trait haplotypes in two Sicilian families with extremely mild ß-thal and unusually high Hb F expression, in order to examine possible genetic background variations in a similar ß-thalassemic phenotype. This study redefines the linkage disequilibrium blocks at these loci, but also shows slight differences between probands in haplotype combinations which could reflect different mechanisms of high Hb F production in patients with ß-thal. We proposed a haplotype-based approach as a useful tool for the understanding of ß-thal phenotype variation in patients with similar ß-thalassemic backgrounds in an attempt to answer the recurring question of why patients with the same ß-thalassemic genotype show different phenotypes.
Asunto(s)
Proteínas Portadoras/genética , Hemoglobina Fetal/genética , Haplotipos , Proteínas Nucleares/genética , Talasemia beta/genética , ADN Intergénico/genética , Salud de la Familia , Femenino , Hemoglobina Fetal/metabolismo , Proteínas de Unión al GTP/genética , Frecuencia de los Genes , Genotipo , Proteínas HSP70 de Choque Térmico/genética , Humanos , Masculino , Familia de Multigenes , Linaje , Factores de Elongación de Péptidos/genética , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas c-myb/genética , Sitios de Carácter Cuantitativo/genética , Proteínas Represoras , Sicilia , Globinas alfa/genética , Globinas beta/genética , Talasemia beta/metabolismoRESUMEN
BACKGROUND: No compelling evidence is available about surveillance and follow-up of patients with testicular germ cell tumour (TGCT). METHODS: In the light of the best clinical evidence, the Italian Germ cell cancer Group (IGG) and the Associazione Italiana di Oncologia Medica (AIOM) set up a multidisciplinary national consensus conference, involving 42 leading experts and 3 TGCT survivors. A minimum of 50% of votes was required in order to achieve a consensus recommendation on 29 questions. RESULTS: Recommendations have been summarized in three tables, divided by stage I seminoma, stage I nonseminoma and the advanced disease, which may be useful for clinicians to appropriately choose the clinical investigation and its timing during the surveillance and follow-up of TGCT patients based on an accurate estimation of their risk of disease relapse. CONCLUSIONS: The IGG-AIOM consensus recommendations may help clinicians to choose appropriate clinical investigations for the surveillance and follow-up of TGCT patients.