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Existen diferentes tipos de silencio, con múltiples funciones, y cada uno puede provocar efectos diversos en la comunicación. En el ámbito sanitario una comunicación eficaz es fundamental para lograr que los pacientes comprendan lo que les sucede y se expresen con claridad y confianza ante los profesionales sanitarios. El silencio juega un papel clave en esta comunicación. Objetivo: Desarrollar un instrumento para conocer la importancia que tiene el silencio para los profesionales sanitarios y analizar de qué manera emplean el silencio en su comunicación con los pacientes. Métodos: En el estudio han participado 43 profesionales del ámbito de la Oncología Pediátrica. Este estudio propone una clasificación de los tipos de silencio en la comunicación sanitaria. Resultados: El silencio es heterogéneo y cumple diferentes funciones. Se comprueba que los profesionales sanitarios emplean distintos tipos de silencio, siendo los Silencios Neutros los más utilizados, a continuación, los Silencios Productivos y los menos empleados los Silencios Obstructivos. Aquel que más se usa es el que favorece la atención, el acompañamiento, la reflexión y la expresión, mientras que el silencio de poder y el de desconexión son los menos empleados. Conclusión: El instrumento de evaluación propuesto (Q-SPS) ha presentado buenos niveles de consistencia interna para esta muestra permitiendo establecer un perfil comparativo entre el uso del silencio por parte de los distintos profesionales del ámbito de la salud por lo que podría valorarse una investigación más exhaustiva con mayor volumen de participantes. post-print 482 KB

Pediatric cancer is rare. It is estimated that more than 10-15 % of tumors are secondary to a pathogenic variant in a cancer predisposition gene. More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified. Li-Fraumeni syndrome is one of those who have been most widely described. Patients with this syndrome present a high risk of developing one or more tumors. Its knowledge allows to establish a follow-up protocol for the patient and affected family members, so as to detect new tumors in an early manner and reduce tumorand treatment-related morbidity and mortality. The objective of this review is to offer useful guidelines for pediatricians. Based on a family case, reasons for Li-Fraumeni syndrome suspicion, clinical and genetic diagnosis, and the follow-up protocol of family members who carry the same mutation will be reviewed.El cáncer en pediatría es una entidad infrecuente. Se estima que más de un 10-15 % de los tumores son secundarios a una variante patogénica en un gen de predisposición al cáncer. Se conocen más de 100 genes de predisposición al cáncer y su asociación con síndromes o tumores aislados. Uno de los más descritos es el síndrome de Li-Fraumeni. Los pacientes con este síndrome tienen alto riesgo de desarrollar uno o más tumores. Su conocimiento permite realizar un protocolo de seguimiento del paciente y de sus familiares afectos, con el que detectar precozmente nuevos tumores y disminuir la morbimortalidad del tumor y de su tratamiento. Esta revisión pretende ser una guía útil para el pediatra. Utilizando como caso guía a una familia, se revisarán los motivos de sospecha de un síndrome de Li-Fraumeni, su diagnóstico clínico y genético, y el protocolo de seguimiento de los familiares portadores de la misma mutación.

Introducción: En los últimos años las aulas hospitalarias se han configurado como un elemento de gran importancia en la vida de los niños y adolescentes que se encuentran en tratamiento de diferentes enfermedades. Los pacientes de enfermedades oncológicas no son una excepción. Objetivo: Aunque las aulas hospitalarias en la actualidad son capaces de sincronizar su trabajo con los colegios de referencia de los pacientes, el propósito de este artículo es presentar y describir un estudio de caso que subraya el papel del aula hospitalaria en sí misma, como una herramienta educativa que es útil en la tarea de educar a sus alumnos de una forma global e inclusiva, sin soslayar los niveles de exigencia adecuados. Método: Presenta el caso de un adolescente de 16 años diagnosticado de un osteosarcoma localizado que requirió quimioterapia preoperatoria y postoperatoria, cirugía de alta complejidad y finalmente un tratamiento inmunomodulador por un tiempo prolongado. No tenía ningún tipo de actividad académica al haber terminado la etapa de aprendizaje obligatorio y no estaba matriculado en ningún colegio, y a través del Aula Hospitalaria de la Unidad de Hematología y Oncología Pediátrica del Hospital HM Montepríncipe llegó a ser un estudiante interesado y motivado. A pesar de que su enfoque es necesariamente multidisciplinar, este estudio presenta una perspectiva educativa y pone de manifiesto la función, posibilidades, ventajas y desventajas de las aulas hospitalarias y su coordinación con el resto del personal. Lo hace poniendo al paciente en medio de su enfoque, a través de una visión humanística que enfatiza el verdadero significado de la educación. Conclusiones: El propósito de un aula hospitalaria no debe ser solo académico, pues tiene un papel fundamental en el objetivo de que el niño y adolescente con cáncer se convierta en un adulto sano física, psíquica, social y espiritualmente. Introduction: The importance of hospital schools has been rising during the last decades. They have gained a lot of influence in the lives of children and teenagers under treatment for different diseases. Those in pediatric hematology/oncology units are not an exception. Objective: Though the hospital schools are nowadays capable of synchronize their work with the patients’ regular schools, the purpose of this project is to present and describe a case report which underlines the role of the hospital schools as themselves, as a teaching tool which is useful in the goal of educating its students in a global and comprehensive way, which includes an adequate level of demand. Method: It presents the case of a 16 years old boy diagnosed with a localized osteosarcoma that required preoperative and post-operative chemotherapy, high complexity surgery and, finally, immunomodulatory therapy for a long time. He had not any kind of learning activity, as he had finished the obligatory educational stage and was not enrolled in any school, and through the Hospital School in the Pediatric Hematology/Oncology Unit in the HM Montepríncipe Hospital became an interested and motivated student. Though its approach is necessarily cross-disciplinary, the present report has an educational perspective and it stresses the function, possibilities, advantages and disadvantages of hospital schools within pediatric oncology units and their coordination with the rest of the staff. It does it by putting the patient in the middle of its scope, through a humanist vision that emphasizes the real meaning of education. Results: The purpose of hospital schools should not be just academic, since they have a fundamental role in achieving that children and teenagers with cancer become healthy adults in a physic, psychic, social and spiritual way.

Resumen El Colegio Montepríncipe trabaja en la educación de niños, niñas y adolescentes con diagnóstico de cáncer; apuesta por la no interrupción de su vida escolar en su aspecto académico y, cuando es posible, social. Cuenta, para ello, con un equipo multidisciplinar formado por profesionales de la docencia, psicología y musicoterapia y con personas voluntarias. Este equipo está integrado en el funcionamiento sanitario de la Unidad de Hematología y Oncología Pediátrica del Hospital Universitario Montepríncipe. En este artículo se describe el funcionamiento del colegio en el hospital y cómo este permite integrar la enfermedad en la vida normal de estos grupos afectados por tal diagnóstico. Para valorar dicho objetivo, se ha llevado a cabo un estudio experimental longitudinal cuantitativo, en el que se tuvo en cuenta la asistencia diaria al colegio. Se contó con un promedio de 36 estudiantes a lo largo de cinco cursos académicos (2012-2017) en los que se comprobó que la asistencia diaria al colegio era del 90 % (esta no es obligatoria), y se mantenía constante a lo largo de estos años. Además, se midió el rendimiento académico de una selección de estudiantes para comprobar que la asistencia al colegio era eficaz. En este caso, la muestra real la formaron 14 sujetos y se compararon las notas medias de las asignaturas de Lengua y Matemáticas antes del diagnóstico y después de terminar el curso en el hospital. Los resultados mostraron que el rendimiento aumentaba como promedio un punto por asignatura. De los resultados se podría concluir que la asistencia diaria al colegio en el hospital ayuda a integrar la enfermedad en la vida normal de cada paciente e incluso a mejorar sus resultados académicos. Abstract The Montepríncipe School works in the education of children and teenagers diagnosed with cancer, supporting the continuity of their academic and social scholarship. School attendance permits them to continue with their previous lives, which is an indication of integration and normalization of disease. The school relies on a multidisciplinary team, which includes teachers, psychologists, music therapists, and volunteers working, all together,With the Unit health professionals. This article describes the performance of the Hospital School and the way it permits to integrate and normalize disease in the lives of children. In order to do so, we accomplished an experimental, quantitative, longitudinal study considering daily school attendance of 36 students, as an average, over five school years (2012-2017). The attendance turned out to be 90%, though it was non-compulsory, and it maintained stable through the years. Additionally, we measured academic performance to verify that school attendance was effective. The sample was formed by 14 students, whose Spanish Language and Mathematics marks were compared before and after treatment. The outcomes showed an improvement of one point in each subject in average, which demonstrates that daily attendance to the Hospital School contributes to integrate disease into the lives of the children and, even, to improve their academic results. Resumo O Colégio Monteprincipe trabalha na educação de crianças e adolescentes com diagnóstico de câncer, orientada a não interromper suas vidas escolares no aspecto acadêmico e, se possível, social. Como recurso, conta com uma equipe multidisciplinar formada por profissionais da área da docência, psicologia, terapia musical e voluntariado integrado no funcionamento sanitário da Unidade de Hematologia e Oncologia Pediátrica do Hospital Universitário Montepríncipe. Este artigo descreve o funcionamento do colégio no hospital e como o mesmo permite integrar a doença na vida normal de estas pessoas afetadas pelo diagnóstico. Para determinar o objetivo, foi realizado um estudo experimental longitudinal quantitativo, considerando a assistência diária ao colégio. Participaram aproximadamente 36 estudantes durante cinco anhos acadêmicos (2012-2017), nos quais foi comprovado que a assistência diária no colégio era de 90% (presença não obrigatória), e se manteve constante durante estes anos. Além disso, foi medido o rendimento acadêmico de uma seleção de estudantes para comprovar se a assistência ao colégio era eficaz. Neste caso, a amostra real foi formada por 14 sujeitos e se compararam a média de notas em idioma e matemáticas antes do diagnóstico e depois de terminado o curso no hospital. Os resultados demostraram que a média de rendimento aumentou um ponto por matéria. Como resultado, pode-se concluir que a assistência diária ao colégio do hospital ajuda a integrar a doença na vida normal de cada paciente como também melhorar o aproveitamento académico.

Background & Aims: Hepatoblastoma (HB) is a rare disease. Nevertheless, it is the predominant pediatric liver cancer, with limited therapeutic options for patients with aggressive tumors. Herein, we aimed to uncover the mechanisms of HB pathobiology and to identify new biomarkers and therapeutic targets in a move towards precision medicine for patients with advanced HB. Methods: We performed a comprehensive genomic, transcriptomic and epigenomic characterization of 159 clinically annotated samples from 113 patients with HB, using high-throughput technologies. Results: We discovered a widespread epigenetic footprint of HB that includes hyperediting of the tumor suppressor BLCAP concomitant with a genome-wide dysregulation of RNA editing and the overexpression of mainly non-coding genes of the oncogenic 14q32 DLK1-DIO3 locus. By unsupervised analysis, we identified 2 epigenomic clusters (Epi-CA, Epi-CB) with distinct degrees of DNA hypomethylation and CpG island hypermethylation that are associated with the C1/C2/C2B transcriptomic subtypes. Based on these findings, we defined the first molecular risk stratification of HB (MRS-HB), which encompasses 3 main prognostic categories and improves the current clinical risk stratification approach. The MRS-3 category (28%), defined by strong 14q32 locus expression and Epi-CB methylation features, was characterized by CTNNB1 and NFE2L2 mutations, a progenitor-like phenotype and clinical aggressiveness. Finally, we identified choline kinase alpha as a promising therapeutic target for intermediate and high-risk HBs, as its inhibition in HB cell lines and patient-derived xenografts strongly abrogated tumor growth. Conclusions: These findings provide a detailed insight into the molecular features of HB and could be used to improve current clinical stratification approaches and to develop treatments for patients with HB. Lay summary: Hepatoblastoma is a rare childhood liver cancer that has been understudied. We have used cutting-edge technologies to expand our molecular knowledge of this cancer. Our biological findings can be used to improve clinical management and pave the way for the development of novel therapies for this cancer. (c) 2020 European Association for the Study of the Liver. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)., This article was possible thanks to the inputs from the Instituto de Salud Carlos III, ISCIII (PI09/00751, PI10/02082, PI13/02340). The project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No 668596 (ChiLTERN) and grant agreement No 826121 (iPC). JCR is supported by the Catalan Agency for Management of University and Research Grants (AGAUR, 2019 FI_B01024). LT is supported by an Accelerator Award (CRUCK, AECC, AIRC) (HUNTER, C9380/A26813). DS is supported by the Gilead Research Scholar in Liver Disease. JML is supported by the European Union's Horizon 2020 research and innovation programme (HEPCAR, 667273-2), Institucio Catalana de Recerca i Estudis Avancats (ICREA), U.S. Department of Defense (CA150272P3), an Accelerator Award (CRUCK, AECC, AIRC) (HUNTER, C9380/A26813), National Cancer Institute, Tisch Cancer Institute (P30-CA196521), Samuel Waxman Cancer Research Foundation, Spanish National Health Institute (SAF2016-76390) and AGAUR (SGR-1358). CA and MRS were supported by Ramon y Cajal (RYC-2010-07249) and Miguel Servet (CPII14/00021) programs of the Ministry of Science and Innovation of Spain and ISCIII, respectively. CA, MRS and MS received funding from CIBERehd (CB06/04/0033) and AGAUR (2017-SGR-490). IGTP is a member of the CERCA network of institutes. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Hemophagocytic lymphohistiocytosis (HLH) is a condition caused by a pathologic immune activation, which is responsible for its signs and symptoms. It may also appear as a secondary process caused by malignancy. Developing HLH during treatment for acute lymphoblastic leukemia (ALL) is extremely uncommon, but underdiagnosis may be fatal. Two patients with ALL on chemotherapy maintenance treatment who developed HLH triggered by infection are presented here. We emphasize the importance of being aware of this condition when a patient with ALL in complete remission presents with unexplained hepatomegaly, cytopenia, and fever. Early diagnosis and treatment may be lifesaving.

Pediatric Central Nervous System (CNS) tumors are the most fatal cancer diseases in childhood. Due to their localization and infiltrative nature, some tumor resections or biopsies are not feasible. In those cases, the use of minimally invasive methods as diagnostic, molecular marker detection, prognostic or monitoring therapies are emerging. The analysis of liquid biopsies which contain genetic information from the tumor has been much more widely explored in adults than in children. We compare the detection of BRAF V600E targetable mutation by digital-PCR from cell-free-DNA and EV-derived DNA (ctDNA) in serum, plasma and cerebrospinal fluid (CSF) isolated from a cohort of 29 CNS pediatric patients. Here we demonstrate that ctDNA isolated from serum and plasma could be successfully analyzed to obtain tumor genetic information which could be used to guide critical treatment decisions.

Philadelphia-chromosome acute lymphoblastic leukaemia (Ph+ ALL) is a subgroup of ALL with very high risk of treatment failure. We report here the results of the Sociedad Espanola de Hematologia y Oncologia Pediatricas (SEHOP/SHOP) in paediatric Ph+ ALL treated with intermediate-dose imatinib concurrent with intensive chemotherapy. The toxicities and outcome of these patients were compared with historical controls not receiving imatinib. Patients with Ph+ ALL aged 1-18 years were enrolled in three consecutive ALL/SHOP trials (SHOP-94/SHOP-99/SHOP-2005). In the SHOP-2005 trial, imatinib (260 mg/m(2) per day) was given on day-15 of induction. Allogeneic haematopoietic stem-cell transplantation (HSCT) from a matched related or unrelated donor was scheduled in first complete remission (CR1). Forty-three patients were evaluable (22 boys, median age 6.8 years, range, 1.2-15). Sixteen received imatinib whereas 27 received similar chemotherapy without imatinib. Seventeen of 27 and 15 of 16 patients in the non-imatinib and imatinib cohort, respectively, underwent HSCT in CRI. With a median follow-up of 109 and 39 months for the non-imatinib and imatinib cohorts, the 3-year event-free survival (EFS) was 29.6% and 78.7%, respectively (P = 0.01). These results show that, compared to historical controls, intermediate dose of imatinib given concomitantly with chemotherapy and followed by allogeneic HSCT markedly improved early EFS in paediatric Ph+ ALL.

Infants and very young children with malignant brain tumors usually have unfavourable locations and are not candidates for craniospinal irradiation. New therapeutic approaches must be attempted to improve poor survival rates. The primary goal of the present study was to report on the safety profile and toxicity of intrathecal administration of liposomal cytarabine in children

We analyzed the outcome in 22 children with refractory or relapsed non-Hodgkin lymphoma who underwent autologous peripheral blood progenitor cell transplantation between 1994 and 2009. The conditioning regimen used in all patients consisted of busulfan and cyclophosphamide. Median age was 6 years (range 2 to 16 y). The most common histologic subtype was Burkitt lymphoma. Ten patients were in complete remission and 12 in partial remission at the time of transplant. The median dose of CD34+ cells that was infused was 4.6 × 10/kg (range 2.1 to 58.7 × 10/kg). All the patients were engrafted, with a median time for neutrophils and platelets recovery of 11 (range, 8 to 15 d) and 14 (range, 9 to 60 d) days, respectively. Nonhematologic treatment-related toxicity included severe mucositis in 3 patients and hepatic sinusoidal obstruction syndrome in 1 patient. There were no transplant-related mortalities. With a median follow-up of 60 months (range, 4 to 180 d) the disease-free survival was 90 ± 6.5% for the whole group. This retrospective study shows a high long-term survival using busulfan/cyclophosphamide as conditioning regimen in children with refractory or relapsed non-Hodgkin lymphoma.

To assess the efficacy and safety of liposomal cytarabine in the treatment of de novo and relapsed leptomeningeal involvement in children with primary CNS tumours. Data from clinical charts were entered into a database for consecutive unselected patients (n=20) from nine Spanish centres. Diagnosis of leptomeningeal involvement was confirmed by cytology, MRI and/or CT scan. The dose of liposomal cytarabine used varied from 20 to 50 mg, by age. There were 8 females and 12 males, mean age 7.3 years (range 8 months to 18 years). The tumours were: 10 medulloblastomas, 4 ependymomas, 3 primitive neuroectodermal tumours and 3 other tumours. Fourteen had undergone previous chemotherapy and 12 radiotherapy. Nine received concurrent chemotherapy and 2 concurrent radiotherapy. Median follow-up was 244.5 days (range 12–869). Patients received a median of 5 doses (range 1–9) of liposomal cytarabine. A neurological response (complete or partial) was seen in 11/19 (58%) and a cytological response in 7/10 (64%). Median time to neurological progression exceeded 180 days (range 12–869). Adverse effects were reported in 11/20 patients, but none was grade IV. Liposomal cytarabine was well tolerated and efficacious in this patient group, but prospective randomised trials are needed.

Although tobacco smoke is an established risk factor for adult cancer, studies of the association between parental smoking and childhood cancer have produced inconsistent results. To investigate the transgenerational relationship between pre-natal and post-natal tobacco smoke exposure from the grandmother's pregnancies until after the post-natal period and childhood cancer.Exposure to tobacco smoke was recorded for three generations. Data were collected through personal interviews using the paediatric environmental history, and were compared among 128 children with cancer and 128 matched controls. The contingency tables and a logistic multivariable regression model were used to control for possible confounding factors.Smoke exposure during oogenesis (maternal grandmother smokers)--odds ratio (OR) 2.2 (95% confidence interval (CI) 1.1-4.9)--and during the mother' pregnancies--OR 1.8 (95% CI 1.1-3.3)--were significantly associated with an increased risk of childhood cancer.Tobacco smoke exposure during the grandmother's and mother's pregnancies increase the risk of cancer in the descendants. The results suggest that the biological plausibility of the association between parental smoking and paediatric cancer can be explained by the large latency period of paediatric carcinogenesis.

We have previously reported that the chicken polyubiquitin gene UbII is preferentially expressed during spermatogenesis and we show here that UbII is the predominant polyubiquitin gene expressed in early embryogenesis. Two main initiation sites were detected. Transcription from the initiation site used in early embryos results in the presence of an intron in the 5'-untranslated region of the transcripts as has been reported for other polyubiquitin messages. In mature testis, however, the use of a different initiation site, located within the intron, produces intronless transcripts. Distinct promoter sequences, present in each initiation site, may regulate the differential expression observed in this gene.