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Background β-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 2005. Epidemiological and clinical data have been collected on living patients with β-thalassemia major or intermedia, including those who underwent hematopoietic stem cell transplantation.Design and Methods A standardized questionnaire was sent to clinicians throughout the national professional networks involved in the management of thalassemic patients and data were updated every 18 months. A cross-sectional study was performed in February 2009.Results Data on 378 patients (267 with thalassemia major) with a median age of 20 were recorded. Hematopoietic stem cell transplantation was performed in 52 patients. Stature, rates of parenthood, splenectomy, and cholecystectomy were no different between non-transplanted thalassemia major and thalassemia intermedia patients, after adjustment for age. Among the 215 non-transplanted thalassemia major patients, the median serum ferritin level was 1240 ng/mL and the rates of iron-related complications were 10%, 6%, 10% and 48% for cardiac failure, diabetes, hypothyroidism, and hypogonadism, respectively. From 2005 to 2008, a dramatic switch in chelation treatment, from deferoxamine to deferasirox, was observed.Conclusions The rates of complications of iron overload in French thalassemia major patients appeared similar to those reported in other developed countries in which this condition is not endemic. There were no significant differences in height and parenthood rates between patients with the major and the intermedia forms of the disease, underlining the progress in clinical care. Future developments will focus on mortality and morbidity under oral chelation treatment.

Fundamentos: En la última década se han desarrollado diversas medidas de calidad de vida relacionada con la salud para uso exclusivo en niños/as y adolescentes. No obstante, existen pocos instrumentos de estas características adaptados en España. El Vecú et Sante Perçue de l?adolescent (VSP-A) es un instrumento genérico de calidad de vida relacionada con la salud para adolescentes de 11 a 17 años desarrollado en Francia. El objetivo de este estudio fue adaptar al español el VSP-A, como primera fase para la obtención del cuestionario. Métodos: Se adaptó la versión del VSP-A de 39 preguntas siguiendo la metodología de traducción directa e inversa incluyendo: 2 traducciones al español, puntuación del grado de dificultad (0 min-10 máx) y clasificación de equivalencia semántica y cultural, 2 reuniones y discusión en paneles de adolescentes, así como reuniones de consenso del equipo de investigación. Finalmente se realizó una traducción inversa (retro-traducción) al francés y se administró la versión final pre-test en la prueba piloto. Resultados: La mayoría de las preguntas se clasificaron como equivalentes (24 sobre 39). Tras las reuniones con adolescentes se modificaron algunas preguntas. Tras la retro-traducción, 3 preguntas necesitaron cambios menores. Conclusiones: La versión española del VSP-A parece semántica y culturalmente equivalente a la versión original en francés y adecuada para adolescentes en España. La sencillez de las preguntas, los comentarios de los adolescentes y la participación de los autores originales en el proceso de adaptación ha permitido obtener una versión pre-test adecuada. La siguiente fase del estudio es la comprobación de la fiabilidad y validez. Se espera que el VSP-A sea de utilidad para medir la calidad de vida relacionada con la salud en encuestas de salud o como instrumento de cribado en colegios o centros de atención primaria en nuestro medio.

A cohort of 106 patients included in the French National Registry for Thalassemia were genotyped for 5 genetic modifiers of severity: i) β-thalassemia mutations; (ii) the XmnI SNP; (iii) the −3.7 kb α-thal deletion; (iv) the tag-SNP rs 11886868 in BCL11A exon 2; and (v) the tag-SNP rs9399137 in the HBSB1L-cMYB inter-region.Multivariate analysis was performed to study the risk of thalassemia Intermedia phenotype associated with the different combinations of alleles. The presence or absence of the favorable alleles could accurately predict the type of thalassemia in 83.2% of the cases. The percentage of correct predictions made from the β-thalassemia mutations and the XmnI SNP alone were significantly improved by the adjustment with the 3 other modifiers; from 73.6% to 83.2% (P

: Objective To develop a generic French self-administered instrument for measuring hospitalized patients satisfaction based on the patients point of view: the questionnaire for satisfaction of hospitalized (QSH) patients. : Design The development was supervised by a steering committee and undertaken through three standard steps. Item generation was derived from 95 face-to-face interviews, performed in hospitalized patients and in patients scheduled to be admitted. The item reduction led to a 69-item questionnaire. The validation process was based on validity, reliability and some aspects of external validity. : Setting Medical, surgical and obstetrical departments (n = 187) of public hospitals (n = 11) from different French regions (n = 3). : Participants Eligible patients were adult subjects hospitalized for at least 24 h. : Main outcome measures QSH, sociodemographic data, hospitalization department, visual analogue scales of satisfaction. : Results The final version of QSH contained 45 items describing 9 dimensions, leading to 2 composite scores (staff and structure index). The factor structure accounted for 71% of the total variance. Internal consistency was satisfactory (item-internal consistency over 0.40; Cronbachs alpha coefficients ranged from 0.76 to 0.96). The scalability was satisfactory with inlier-sensitive fit (INFIT) statistics inside an acceptable range. Scores of dimensions were strongly positively correlated with visual analogue scale scores (all P < 0.001). External validity showed statistical associations between QSH scores and age or department. Participation rate was 91%. : Conclusions The availability of a reliable and valid French questionnaire concerning hospitalized patients satisfaction, exclusively generated from patients interviews, enables patient feedback to be incorporated in a continuous quality health-care improvement strategy. [ABSTRACT FROM AUTHOR]