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Processus pour le développement d’une stratégie d’évaluation de la qualitéde vie en cancer avancépédiatrique Process for Developing a Quality of Life Assessment Strategy in Advanced Pediatric Cancer

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Psycho-Oncologie 2024年第2期18卷 127-135页

作者： Lye-Ann Robichaud Marianne Olivier-D’Avignon Julie Felipe Hermann Ferdinand Thomas Ehrenfeld Marc-Antoine Marquis Bruno Michon Émélie Rondeau Mathias Tyo-Gomez Michel Duval serge sultan Département de Psychologie Universitéde MontréalMontréalH3C 3J7Canada Centre de Recherche Centre Hospitalier Universitaire(CHU)Sainte-JustineMontréalH3T 1C5Canada Centre de Psycho-Oncologie(CPO) CHU Sainte-JustineMontréalH3T 1C5Canada École de Travail Social UniversitéLavalQuébecG1V 0A6Canada Département de Pédiatrie Universitéde MontréalMontréalH3T 1C5Canada Département de Pédiatrie Générale CHU Sainte-JustineMontréalH3T 1C5Canada Centre Mère-enfant Soleil CHU de Québec-UniversitéLavalQuébecG1V 4G2Canada CHU de Québec-UniversitéLaval QuébecG1V 4G2Canada Patient Partenaire CHU Sainte-JustineMontréalH3T 1C5Canada Département d’Hémato-OncologIe CHU Sainte-JustineMontréalH3T 1C5Canada

In pediatric advanced cancer,i.e.,when cancer-targeted treatments are not effective,care provided to patients is of palliative *** aims at limiting symptoms and optimizing quality of life(QoL).To orient care,it is necessary to know and measure what is really important for young ***,tools are still scarce in this *** aim of this paper is to describe the development process of a new QoL assessment method,the Advance QoL *** is specifically designed for the clinical context of pediatric advanced *** previous studies carried out by our team identified seven important QoL domains for this *** developed a tool named Advance QoL—parent/caregiver version.A current study aims to develop self-reported versions of the Advance QoL for children(8-12 years)and adolescents(13-18 years)with advanced *** the very near future,the Advance QoL tool will be available in three versions(parents/caregivers,children,and adolescents)ready to be tested in validation *** assessment of the QoL of young people with cancer is a central process in defining targets for care and should be carried out throughout the trajectory,including when cancer is at an advanced stage,i.e.,when no standard treatment options are available.

关键词： Pediatric cancer advanced cancer palliative care quality of life measures

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A novel E153X point mutation in the androgen receptor gene in a patient with complete androgen insensitivity syndrome

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Asian Journal of Andrology 1999年第1期1卷 73-77页

作者： Silvia B Copelli serge Lumbroso Francoise Audran Eliana H Pellizzari Juan J Heinrich Selva B Cigorraga Charles sultan Héctor E Chemes Laboratore d'Hormonologie Hopital Lapeyronie et INSER U 439 Pathologie des recepteurs nucleaires.Unite d'Endocrinologie et Gynecologie PediatriquesHopital A.de VillenetiveMontpellier-France CEDIE-CONICET Division de EndocrinologtaHospital de Niflos"Ricardo Gutierrez"Buenos AiresArgentina

Aim:To study a 46,XY newborn patient with a phenotype suggestive of an androgen insensitivity syndrome toconfirn an anomaly in the AR ***:Genomic DNA from leukocytes was isolated in order to analyze SRYgene by PCR and sequencing of the eight exons of AR *** of human Leydig cell mesenchymal precursorsfrom the testis was performed in order to study testosterone production and response to hCG stimulation in ***:Surgical exploration disclosed two testes,no Wolffian structures and important Mullerian *** gene was present in peripheral blood *** of the AR gene evidenced a previously unreported Gto T transversion in exon 1 that changed the normal glutamine 153 codon to a stop *** cell culturesproduced sizable amounts of testosterone and were responsive to hCG ***:This E153X nonsensepoint mutation has not been described previously in cases of AIS,and could lead to the synthesis of a short truncated(153 vs 919 residues)non functional AR probably responsible for the phenotype of complete androgen insensitivitysyndrome(CAIS).

关键词： testicular feminization androgen receptor point mutation Mullerian ducts

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