Afrontamiento y malestar emocional parental en relación a la calidad de vida del adolescente oncológico en remisión

Objetivo: Explorar si la calidad de vida (CV) de los adolescentes oncológicos en remisión, está relacionada con el afrontamiento y/o el malestar emocional parental. Método: A partir de un diseño transversal, se recogió información de un total de 62 participantes (31 adolescentes oncológicos en remisión y 31 padres de los anteriores). La CV de los adolescentes fue evaluada a través del Cuestionario de Salud SF-12v2. Para evaluar el estilo de afrontamiento parental se administró el COPE en versión disposicional; y para medir su nivel de malestar emocional actual en relación al cáncer, se administraron dos escalas numéricas de 5 puntos. Los datos médicos y socio-demográficos se obtuvieron a partir de las historias clínicas. Resultados: El estilo de afrontamiento parental de vinculación con el problema (engagement) explicaba un 25% de la varianza del componente mental de CV de los adolescentes oncológicos en remisión (ß = -,500; p = ,004). Conclusiones: La CV del adolescente superviviente a un cáncer, no depende única y exclusivamente de sí mismo. El ámbito familiar en el que éste está inmerso va a tener un papel muy destacado en su adaptación. Por ello es necesario atender las necesidades tanto del paciente, como de sus padres; favoreciendo un mayor ajuste a la situación de remisión, ayudando a disminuir el malestar emocional una vez ha finalizado el tratamiento, y de algún modo, fomentando una mejor y más rápida adaptación a la normalidad de todo el núcleo familiarPurpose: To explore whether Health-Related Quality of Life (HRQoL) in a sample of adolescent survivors of childhood cancer is related to parental coping and/or parental emotional distress. Methods: Sixty-two participants (31 adolescent survivors of childhood cancer and 31 parents) completed several questionnaires in a cross-sectional study. HRQoL was assessed using the SF-12v2 questionnaire. Parental coping styles were assessed using the COPE (dispositional version); and their emotional distress with regard to the oncological experience was assessed by means of two 5-point numeric scales. Medical and demographical data were obtained from medical records. Results: The parental coping style of engagement explained 25% of the variance in mental component dimension of HR-QoL of adolescent survivors of childhood cancer (ß = -,500; p = ,004). Conclusions: HRQoL of adolescent survivors of childhood cancer does not depend only of their own determinants. The family context will play a major role in their adaptation. Therefore it is necessary to take care of the needs of both patients and their parents, encouraging a greater adjustment to the remission phase, helping them to reduce the emotional distress after the end of treatment, and somehow, fostering a better and faster adjustment to the situation of the whole famil

A risk factor analysis of outcomes after unrelated cord blood transplantation for children with Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome is a severe X-linked recessive immune deficiency disorder. A scoring system of Wiskott-Aldrich syndrome severity (0.5-5) distinguishes 2 phenotypes: X-linked thrombocytopenia and classic Wiskott-Aldrich syndrome. Hematopoietic cell transplantation is curative for Wiskott-Aldrich syndrome, however the use of unrelated umbilical cord blood transplantation has seldom been described. We analyzed umbilical cord blood transplantation outcomes for 90 patients. Median age at umbilical cord blood transplantation was 1.5 years. Patients were classified according to clinical scores (2 (23%), 3 (30%), 4 (23%) and 5 (19%)). Most patients received HLA mismatched umbilical cord blood transplantation and myeloablative conditioning with anti-thymocyte globulin. Cumulative incidence of neutrophil recovery at day-60 was 89% and day-100 acute graft-versus-host disease grade II-IV was 38%; use of methotrexate for graft-versus- host disease prophylaxis delayed engraftment (p=0.02), but decreased acute graft-versus-host disease (p=0.03). At 5-year, overall survival and event-free survival were 75% and 70%, respectively. Estimated 5 year- event-free survival was 83%, 73% and 55% for patients with clinical score 2, 4-5 and 3, respectively. In multivariate analysis, age<2years at umbilical cord blood transplantation and clinical phenotype X-linked thrombocytopenia were associated with improved event-free survival. Overall survival tended to be improved after 2007 (p=0.09). In conclusion, umbilical cord blood transplantation is a good alternative option for young children with Wiskott-Aldrich syndrome lacking an HLA identical stem cell donor

Cirugia conservadora en el osteosarcoma de humero. Tecnica de tikhoff-linberg modificada

The treatment of the osteogenic sarcoma by bone replacement is reported in a case in which the humerus was replaced by a prothetic implant made «in situ» whilst the operation was being performed

Afrontamiento y malestar emocional parental en relación a la calidad de vida del adolescente oncológico en remisión

Objetivo: Explorar si la calidad de vida (CV) de los adolescentes oncológicos en remisión, está relacionada con el afrontamiento y/o el malestar emocional parental. Método: A partir de un diseño transversal, se recogió información de un total de 62 participantes (31 adolescentes oncológicos en remisión y 31 padres de los anteriores). La CV de los adolescentes fue evaluada a través del Cuestionario de Salud SF-12v2. Para evaluar el estilo de afrontamiento parental se administró el COPE en versión disposicional; y para medir su nivel de malestar emocional actual en relación al cáncer, se administraron dos escalas numéricas de 5 puntos. Los datos médicos y socio-demográficos se obtuvieron a partir de las historias clínicas. Resultados: El estilo de afrontamiento parental de vinculación con el problema (engagement) explicaba un 25% de la varianza del componente mental de CV de los adolescentes oncológicos en remisión (ß = -,500; p = ,004). Conclusiones: La CV del adolescente superviviente a un cáncer, no depende única y exclusivamente de sí mismo. El ámbito familiar en el que éste está inmerso va a tener un papel muy destacado en su adaptación. Por ello es necesario atender las necesidades tanto del paciente, como de sus padres; favoreciendo un mayor ajuste a la situación de remisión, ayudando a disminuir el malestar emocional una vez ha finalizado el tratamiento, y de algún modo, fomentando una mejor y más rápida adaptación a la normalidad de todo el núcleo familiarPurpose: To explore whether Health-Related Quality of Life (HRQoL) in a sample of adolescent survivors of childhood cancer is related to parental coping and/or parental emotional distress. Methods: Sixty-two participants (31 adolescent survivors of childhood cancer and 31 parents) completed several questionnaires in a cross-sectional study. HRQoL was assessed using the SF-12v2 questionnaire. Parental coping styles were assessed using the COPE (dispositional version); and their emotional distress with regard to the oncological experience was assessed by means of two 5-point numeric scales. Medical and demographical data were obtained from medical records. Results: The parental coping style of engagement explained 25% of the variance in mental component dimension of HR-QoL of adolescent survivors of childhood cancer (ß = -,500; p = ,004). Conclusions: HRQoL of adolescent survivors of childhood cancer does not depend only of their own determinants. The family context will play a major role in their adaptation. Therefore it is necessary to take care of the needs of both patients and their parents, encouraging a greater adjustment to the remission phase, helping them to reduce the emotional distress after the end of treatment, and somehow, fostering a better and faster adjustment to the situation of the whole famil

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor. Family A, with 3 affected children, carried a homozygous missense mutation (NM-000760.3:c.922C>T, NP-000751.1:p.Arg308Cys), which resulted in perturbed N-glycosylation and aberrant localization to the cell surface. Family B, with 1 affected infant, carried compound heterozygous deletions provoking frameshifts and premature stop codons (NM-000760.3:c.948-963del, NP-000751.1:p. Gly316fsTer322 and NM-000760.3:c.1245del, NP-000751.1:p.Gly415fsTer432). Despite peripheral SCN, all patients had morphologic evidence of full myeloid cell maturation in bone marrow. None of the patients responded to treatment with recombinant human G-CSF. Our study highlights the genetic and morphologic SCN variability and provides evidence both for functional importance and redundancy of G-CSF receptor-mediated signaling in human granulopoiesis

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor. Family A, with 3 affected children, carried a homozygous missense mutation (NM-000760.3:c.922C>T, NP-000751.1:p.Arg308Cys), which resulted in perturbed N-glycosylation and aberrant localization to the cell surface. Family B, with 1 affected infant, carried compound heterozygous deletions provoking frameshifts and premature stop codons (NM-000760.3:c.948-963del, NP-000751.1:p. Gly316fsTer322 and NM-000760.3:c.1245del, NP-000751.1:p.Gly415fsTer432). Despite peripheral SCN, all patients had morphologic evidence of full myeloid cell maturation in bone marrow. None of the patients responded to treatment with recombinant human G-CSF. Our study highlights the genetic and morphologic SCN variability and provides evidence both for functional importance and redundancy of G-CSF receptor-mediated signaling in human granulopoiesis