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1.
Cell ; 181(6): 1329-1345.e24, 2020 06 11.
Artículo en Inglés | MEDLINE | ID: mdl-32445698

RESUMEN

Posterior fossa A (PFA) ependymomas are lethal malignancies of the hindbrain in infants and toddlers. Lacking highly recurrent somatic mutations, PFA ependymomas are proposed to be epigenetically driven tumors for which model systems are lacking. Here we demonstrate that PFA ependymomas are maintained under hypoxia, associated with restricted availability of specific metabolites to diminish histone methylation, and increase histone demethylation and acetylation at histone 3 lysine 27 (H3K27). PFA ependymomas initiate from a cell lineage in the first trimester of human development that resides in restricted oxygen. Unlike other ependymomas, transient exposure of PFA cells to ambient oxygen induces irreversible cellular toxicity. PFA tumors exhibit a low basal level of H3K27me3, and, paradoxically, inhibition of H3K27 methylation specifically disrupts PFA tumor growth. Targeting metabolism and/or the epigenome presents a unique opportunity for rational therapy for infants with PFA ependymoma.


Asunto(s)
Ependimoma/genética , Ependimoma/metabolismo , Epigenoma/genética , Neoplasias Infratentoriales/genética , Neoplasias Infratentoriales/metabolismo , Animales , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Línea Celular , Proliferación Celular/genética , Metilación de ADN/genética , Epigenómica/métodos , Histonas/genética , Histonas/metabolismo , Humanos , Lactante , Lisina/genética , Lisina/metabolismo , Masculino , Ratones Endogámicos C57BL , Mutación/genética
2.
Pediatr Blood Cancer ; 71(6): e30980, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38556739

RESUMEN

Survival rates in some paediatric cancers have improved greatly over recent decades, in part due to the identification of diagnostic, prognostic and predictive molecular signatures, and the development of risk-directed therapies. However, other paediatric cancers have proved difficult to treat, and there is an urgent need to identify novel biomarkers that reveal therapeutic opportunities. The proteome is the total set of expressed proteins present in a cell or tissue at a point in time, and is vastly more dynamic than the genome. Proteomics holds significant promise for cancer research, as proteins are ultimately responsible for cellular phenotype and are the target of most anticancer drugs. Here, we review the discoveries, opportunities and challenges of proteomic analyses in paediatric cancer, with a focus on mass spectrometry (MS)-based approaches. Accelerating incorporation of proteomics into paediatric precision medicine has the potential to improve survival and quality of life for children with cancer.


Asunto(s)
Biomarcadores de Tumor , Neoplasias , Proteómica , Humanos , Neoplasias/genética , Neoplasias/terapia , Neoplasias/metabolismo , Proteómica/métodos , Niño , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/metabolismo , Medicina de Precisión/métodos , Espectrometría de Masas , Proteoma/análisis
3.
Aust N Z J Psychiatry ; 58(6): 515-527, 2024 06.
Artículo en Inglés | MEDLINE | ID: mdl-38404162

RESUMEN

OBJECTIVE: We examined the impact of long-term mental health outcomes on healthcare services utilisation among childhood cancer survivors in Western Australia using linked hospitalisations and community-based mental healthcare records from 1987 to 2019. METHOD: The study cohort included 2977 childhood cancer survivors diagnosed with cancer at age < 18 years in Western Australia from 1982 to 2014 and a matched non-cancer control group of 24,994 individuals. Adjusted hazard ratios of recurrent events were estimated using the Andersen-Gill model. The cumulative burden of events over time was assessed using the method of mean cumulative count. The annual percentage change in events was estimated using the negative binomial regression model. RESULTS: The results showed higher community-based service contacts (rate/100 person-years: 30.2, 95% confidence interval = [29.7-30.7] vs 22.8, 95% confidence interval = [22.6-22.9]) and hospitalisations (rate/1000 person-years: 14.8, 95% confidence interval = [13.6-16.0] vs 12.7, 95% confidence interval = [12.3-13.1]) in childhood cancer survivors compared to the control group. Childhood cancer survivors had a significantly higher risk of any event (adjusted hazard ratio = 1.5, 95% confidence interval = [1.1-2.0]). The cumulative burden of events increased with time since diagnosis and across age groups. The annual percentage change for hospitalisations and service contacts significantly increased over time (p < 0.05). Substance abuse was the leading cause of hospitalisations, while mood/affective and anxiety disorders were common causes of service contacts. Risk factors associated with increased service events included cancer diagnosis at age < 5 years, leukaemia diagnosis, high socioeconomic deprivation, and an attained age of < 18 years. CONCLUSIONS: The elevated utilisation of healthcare services observed among childhood cancer survivors emphasises the need for periodic assessment of psychiatric disorders, particularly in high-risk survivors, to facilitate early management and optimise healthcare resources.


Asunto(s)
Supervivientes de Cáncer , Servicios Comunitarios de Salud Mental , Hospitalización , Trastornos Mentales , Humanos , Australia Occidental/epidemiología , Supervivientes de Cáncer/estadística & datos numéricos , Masculino , Femenino , Hospitalización/estadística & datos numéricos , Niño , Adolescente , Trastornos Mentales/epidemiología , Trastornos Mentales/terapia , Servicios Comunitarios de Salud Mental/estadística & datos numéricos , Estudios Retrospectivos , Neoplasias/epidemiología , Neoplasias/terapia , Adulto , Preescolar , Adulto Joven , Aceptación de la Atención de Salud/estadística & datos numéricos , Lactante
4.
J Adv Nurs ; 2024 Jul 31.
Artículo en Inglés | MEDLINE | ID: mdl-39082224

RESUMEN

AIMS: To identify profiles of coping in parents of children with cancer and their underlying factors and to examine which profile(s) are associated with illness adaptation. DESIGN: A cross-sectional study utilizing surveys among parents of children with cancer (n = 89). METHODS: Questionnaires included socio-demographics, ways of coping, parenting stress, depression, post-traumatic symptoms, illness adjustment and quality of life. Parental coping profiles were identified via latent profile analysis. Logistic multinomial regression was used to identify predictors of coping profiles. Adaptation outcomes were compared across the coping profiles via multivariable analyses of variance with Bonferroni adjustments. RESULTS: Five profiles were identified: The 'Strong Repertoire' used coping strategies moderate to high degree, with a positive-active orientation; The 'Moderate-Activist' used a similar pattern, rather more moderately; The 'Self-Regulator' used self-content strategies; The 'Mild-Engager' used active-engaging strategies; The 'Avoidant Coper' used avoidant-passive strategies. Parental stress predicted coping profiles, so that parents experiencing greater stress utilized the 'Avoidant Coper' to a greater degree. Group comparisons revealed that 'Avoidant-Copers' had more depressive and post-traumatic symptoms, worse illness adjustment and lower quality of life. CONCLUSIONS: Passive-avoidant mechanisms of coping may be maladaptive in terms of parental cancer adaptation and indicative of lower resilience. IMPACT: Findings can direct clinicians to promote familial resilience by adapting policy and practice to meet familial needs. PATIENT OR PUBLIC CONTRIBUTION: Not applicable.

5.
Cardiol Young ; 34(2): 250-261, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38174736

RESUMEN

BACKGROUND: Childhood cancer survivors are at increased risk of developing cardiovascular diseases, presenting as the main causes of morbidity and mortality within this group. Besides the usual primary and secondary prevention in combination with screening during follow-up, the modifiable lifestyle factors of physical activity, nutrition, and body weight have not yet gained enough attention regarding potential cardiovascular risk reduction. OBJECTIVE: These practical recommendations aim to provide summarised information and practical implications to paediatricians and health professionals treating childhood cancer survivors to reduce the risk of cardiovascular late effects. METHODS: The content derives from either published guidelines or expert opinions from Association of European Paediatric and Congenital Cardiology working groups and is in accordance with current state-of-the-art. RESULTS: All usual methods of prevention and screening regarding the risk, monitoring, and treatment of occurring cardiovascular diseases are summarised. Additionally, modifiable lifestyle factors are explained, and clear practical implications are named. CONCLUSION: Modifiable lifestyle factors should definitely be considered as a cost-effective and complementary approach to already implemented follow-up care programs in cardio-oncology, which can be actively addressed by the survivors themselves. However, treating physicians are strongly encouraged to support survivors to develop and maintain a healthy lifestyle, including physical activity as one of the major influencing factors. This article summarises relevant background information and provides specific practical recommendations on how to advise survivors to increase their level of physical activity.


Asunto(s)
Supervivientes de Cáncer , Cardiología , Enfermedades Cardiovasculares , Cardiopatías Congénitas , Insuficiencia Cardíaca , Neoplasias , Niño , Humanos , Adulto , Cardiopatías Congénitas/complicaciones , Enfermedades Cardiovasculares/prevención & control , Neoplasias/complicaciones , Ejercicio Físico , Estilo de Vida
6.
Neuropsychol Rehabil ; : 1-27, 2024 05 29.
Artículo en Inglés | MEDLINE | ID: mdl-38809147

RESUMEN

Paediatric cancer survivors often suffer from cognitive long-term difficulties. Consequently, strengthening cognition is of major clinical relevance. This study investigated cerebral changes in relation to cognition in non-brain tumour paediatric cancer survivors after working memory or physical training compared to a control group. Thirty-four children (≥one-year post-treatment) either underwent eight weeks of working memory training (n = 10), physical training (n = 11), or a waiting period (n = 13). Cognition and MRI, including arterial spin labelling and diffusion tensor imaging, were assessed at three time points (baseline, post-training, and three-month follow-up). Results show lower cerebral blood flow immediately after working memory training (z = -2.073, p = .038) and higher structural connectivity at the three-month follow-up (z = -2.240, p = .025). No cerebral changes occurred after physical training. Short-term changes in cerebral blood flow correlated with short-term changes in cognitive flexibility (r = -.667, p = .049), while long-term changes in structural connectivity correlated with long-term changes in working memory (r = .786, p = .021). Despite the caution given when interpreting data from small samples, this study suggests a link between working memory training and neurophysiological changes. Further research is needed to validate these findings.

7.
J Pediatr Nurs ; 77: e276-e282, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38670864

RESUMEN

BACKGROUND AND PURPOSE: Hospitalization is a traumatic experience for children. Especially in the case of childhood cancers that require long-term hospitalization, children need psychosocial support. The study aimed to examine the effectiveness of drama in reducing psychosocial problems in hospitalized paediatric children diagnosed with cancer. METHODS: The study used a mixed method approach, combining both qualitative and quantitative methods with a single group. Drama sessions prepared according to the Tasks and Skills Model were used to support their psychosocial conditions. The Facial Expression Form, The Assessment Scale for Psychosocial Symptoms in Hospitalized Children, and the Drawing and Writing Technique were used before and after the drama sessions. RESULTS: This study differs from others in its use of drama intervention to reduce psychosocial problems in children undergoing cancer treatment. As a result of the study, it was found that there was a decrease in anxiety, hopelessness, anger-aggression and communication difficulties among psychosocial problems and a change in mood towards feeling happy. The study suggests that drama sessions were effective in relieving emotional distress in paediatric cancer patients. CONCLUSION: The study suggests that drama sessions were effective in relieving emotional distress in paediatric cancer patients. PRACTICE IMPLICATIONS: Applying drama to children undergoing long-term hospital treatment can help alleviate psychosocial problems by reducing stress, emotional suppression, and compensating for trauma.


Asunto(s)
Niño Hospitalizado , Neoplasias , Humanos , Masculino , Neoplasias/psicología , Neoplasias/terapia , Femenino , Niño , Niño Hospitalizado/psicología , Drama , Estrés Psicológico , Emociones , Hospitalización
8.
Cell Mol Life Sci ; 79(11): 546, 2022 Oct 11.
Artículo en Inglés | MEDLINE | ID: mdl-36221013

RESUMEN

The majority of current cancer therapies are aimed at reducing tumour growth, but there is lack of viable pharmacological options to reduce the formation of metastasis. This is a paradox, since more than 90% of cancer deaths are attributable to metastatic progression. Integrin alpha9 (ITGA9) has been previously described as playing an essential role in metastasis; however, little is known about the mechanism that links this protein to this process, being one of the less studied integrins. We have now deciphered the importance of ITGA9 in metastasis and provide evidence demonstrating its essentiality for metastatic dissemination in rhabdomyosarcoma and neuroblastoma. However, the most translational advance of this study is to reveal, for the first time, the possibility of reducing metastasis by pharmacological inhibition of ITGA9 with a synthetic peptide simulating a key interaction domain of ADAM proteins, in experimental metastasis models, not only in childhood cancers but also in a breast cancer model.


Asunto(s)
Neuroblastoma , Rabdomiosarcoma , Proteínas ADAM/metabolismo , Humanos , Cadenas alfa de Integrinas , Integrinas , Metástasis de la Neoplasia , Neuroblastoma/tratamiento farmacológico , Rabdomiosarcoma/tratamiento farmacológico
9.
Nutr Health ; : 2601060231166163, 2023 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-36972507

RESUMEN

Background: Adequate energy and protein intakes are required to maintain nutritional status and prevent clinical deterioration in paediatric oncology patients. There are limited investigations of malnutrition and dietary intake adequacy during treatment in developing countries. Aim: This study aimed to assess the nutritional status and macro- and micronutrient intake adequacy in paediatric oncology patients undergoing therapy. Methods: This cross-sectional study was conducted at Dr Sardjito Hospital, Indonesia. Sociodemographic, anthropometry, dietary intake, and anxiety status were collected. Patients were grouped based on cancer aetiology (haematological malignancy (HM) or solid tumour (ST). Variables between groups were compared. P-values of <0.05 were considered statistically significant. Results: 82 patients aged 5-17 years (65.9% HM) were analysed. The prevalence of underweight was 24.4% (ST vs HM: 26.9% vs 23.2%), overweight 9.8% (ST vs HM: 11.5% vs 8.5%), and obesity 6.1% (ST vs HM: 0.0% vs 8.5%) according to BMI-for-age z-score. Mid-upper-arm circumference identified undernutrition in 55.7% and overnutrition in 3.7% of the patients. Stunted growth was found in 20.8% of the patients. Percentages of children with inadequate energy and protein intake were 43.9% and 26.8%, respectively. The percentages of participants meeting the national micronutrient requirements were low, ranging from 3.8% to 56.1%, with the highest adherence rate observed for vitamin A and the lowest for vitamin E. Appetite loss was associated with lower overall intake. Conclusion: This study confirmed that malnutrition is prevalent in paediatric patients treated for cancer. Inadequate intakes of macro- and micro-nutrients were also common, highlighting the need for early nutritional assessment and intervention.

10.
Br J Haematol ; 198(6): 1023-1031, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35849644

RESUMEN

The human cathelicidin hCAP-18 (pro-LL-37) is the pro-protein of the antimicrobial peptide LL-37. hCAP-18 can be produced by many different cell types; bone marrow neutrophil precursors are the main source of hCAP-18 in the circulation. Neutrophil count is used as a marker for myelopoiesis but does not always reflect neutrophil production in the bone marrow, and thus additional markers are needed. In this study, we established the reference interval of serum hCAP-18 level in healthy children and compared serum hCAP-18 levels between different diagnostic groups of children with haemato-oncological diseases, at diagnosis. We found that children with diseases that impair myelopoiesis, such as acute leukaemia, aplastic anaemia, or myelodysplastic syndrome, presented with low hCAP-18 levels, whereas patients with non-haematological malignancies displayed serum hCAP-18 levels in the same range as healthy children. Children with chronic myeloid leukaemia presented with high circulating levels of hCAP-18, probably reflecting the high number of all differentiation stages of myeloid cells. We suggest that analysis of serum hCAP-18 provides additional information regarding myelopoiesis in children with haemato-oncological diseases, which may have future implications in assessment of myelopoiesis in clinical management.


Asunto(s)
Péptidos Catiónicos Antimicrobianos , Neoplasias Hematológicas , Neutrófilos , Péptidos Catiónicos Antimicrobianos/sangre , Diferenciación Celular , Niño , Humanos , Recuento de Leucocitos , Neutrófilos/metabolismo , Catelicidinas
11.
Acta Neuropathol ; 144(3): 565-578, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35831448

RESUMEN

We reconstructed the natural history and temporal evolution of the most common childhood brain malignancy, medulloblastoma, by single-cell whole-genome sequencing (sc-WGS) of tumours representing its major molecular sub-classes and clinical risk groups. Favourable-risk disease sub-types assessed (MBWNT and infant desmoplastic/nodular MBSHH) typically comprised a single clone with no evidence of further evolution. In contrast, highest risk sub-classes (MYC-amplified MBGroup3 and TP53-mutated MBSHH) were most clonally diverse and displayed gradual evolutionary trajectories. Clinically adopted biomarkers (e.g. chromosome 6/17 aberrations; CTNNB1/TP53 mutations) were typically early-clonal/initiating events, exploitable as targets for early-disease detection; in analyses of spatially distinct tumour regions, a single biopsy was sufficient to assess their status. Importantly, sc-WGS revealed novel events which arise later and/or sub-clonally and more commonly display spatial diversity; their clinical significance and role in disease evolution post-diagnosis now require establishment. These findings reveal diverse modes of tumour initiation and evolution in the major medulloblastoma sub-classes, with pathogenic relevance and clinical potential.


Asunto(s)
Neoplasias Encefálicas , Neoplasias Cerebelosas , Meduloblastoma , Neoplasias Encefálicas/genética , Neoplasias Cerebelosas/patología , Aberraciones Cromosómicas , Humanos , Lactante , Meduloblastoma/patología , Mutación , Análisis de Secuencia de ADN
12.
Histopathology ; 80(6): 928-945, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35238063

RESUMEN

AIMS: Renal cell carcinomas (RCCs) represent 2-5% of kidney malignancies in children and adolescents. Appropriate diagnostic and classification are crucial for the correct management of the patients and in order to avoid inappropriate pre-operative chemotherapy, which is usually recommended if a Wilms' tumour is suspected. METHODS AND RESULTS: A French-Italian series of 93 renal cell carcinomas collected from 1990 to 2019 in patients aged less than 18 years was reclassified according to the 2016 World Health Organization (WHO) classification and the latest literature. TFE3 and TFEB fluorescence in-situ hybridisation (FISH) analyses and a panel of immunohistochemical stains were applied. The median age at diagnosis was 11 years (range = 9 months-17 years). MiT family (MiTF) translocation RCCs accounted for 52% of the tumours, followed by papillary (20%) and unclassified RCCs (13%). Other subtypes, such as SDHB-deficient and fumarate hydratase-deficient RCCs, represented 1-3% of the cases. We also described a case of ALK-rearranged RCC with a metanephric adenoma-like morphology. CONCLUSION: A precise histological diagnosis is mandatory, as targeted therapy could be applied for some RCC subtypes, i.e. MiTF-translocation and ALK-translocation RCC. Moreover, some RCC subtypes may be associated with a predisposition syndrome that will impact patients' and family's management and genetic counselling. A precise RCC subtype is also mandatory for the clinical management of the patients and inclusion in new prospective clinical trials.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Tumor de Wilms , Adolescente , Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Carcinoma de Células Renales/patología , Femenino , Humanos , Neoplasias Renales/patología , Masculino , Estudios Prospectivos , Estudios Retrospectivos , Translocación Genética
13.
BMC Cancer ; 22(1): 267, 2022 Mar 14.
Artículo en Inglés | MEDLINE | ID: mdl-35287628

RESUMEN

BACKGROUND: High-dose methotrexate (HD-MTX) is used in the treatment of different childhood cancers, including leukemia, the most common cancer type and is commonly defined as an intravenous dose of at least 1 g/m2 body surface area per application. A systematic review on late effects on different organs due to HD-MTX is lacking. METHOD: We conducted a systematic literature search in PubMed, including studies published in English or German between 1985 and 2020. The population of each study had to consist of at least 75% childhood cancer survivors (CCSs) who had completed the cancer treatment at least twelve months before late effects were assessed and who had received HD-MTX. The literature search was not restricted to specific cancer diagnosis or organ systems at risk for late effects. We excluded case reports, case series, commentaries, editorial letters, poster abstracts, narrative reviews and studies only reporting prevalence of late effects. We followed PRISMA guidelines, assessed the quality of the eligible studies according to GRADE criteria and registered the protocol on PROSPERO (ID: CRD42020212262). RESULTS: We included 15 out of 1731 identified studies. Most studies included CCSs diagnosed with acute lymphoblastic leukemia (n = 12). The included studies investigated late effects of HD-MTX on central nervous system (n = 10), renal (n = 2) and bone health (n = 3). Nine studies showed adverse outcomes in neuropsychological testing in exposed compared to non-exposed CCSs, healthy controls or reference values. No study revealed lower bone density or worse renal function in exposed CCSs. As a limitation, the overall quality of the studies per organ system was low to very low, mainly due to selection bias, missing adjustment for important confounders and low precision. CONCLUSIONS: CCSs treated with HD-MTX might benefit from neuropsychological testing, to intervene early in case of abnormal results. Methodological shortcomings and heterogeneity of the tests used made it impossible to determine the most appropriate test. Based on the few studies on renal function and bone health, regular screening for dysfunction seems not to be justified. Only screening for neurocognitive late effects is warranted in CCSs treated with HD-MTX.


Asunto(s)
Antineoplásicos/efectos adversos , Supervivientes de Cáncer/estadística & datos numéricos , Efectos Adversos a Largo Plazo/inducido químicamente , Metotrexato/administración & dosificación , Neoplasias/tratamiento farmacológico , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino
14.
Psychooncology ; 31(4): 559-561, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35396891

RESUMEN

OBJECTIVE: This issue celebrates the 30th anniversary of Psycho-Oncology as a journal, a home for scholarship integrating the psychological, social and behavioural dimensions of cancer. Psycho-oncology developed as an evidence-based discipline to offer an alternative to unproven therapies and to optimise coping and support for patients with cancer and their families. METHODS: A review of key articles was undertaken for this editorial. RESULTS: Empirical studies have defined the prevalence of morbidity arising from cancer and the acute, longer-term and late effects of its varied treatments. Interventions have been adapted to respond to existential challenges, death anxiety, fear of recurrence, disease progression, palliative care and have been continued into bereavement. Mixed modality treatments have combined psychotropic and psychotherapeutic interventions. Survivorship studies have examined rehabilitation, fertility, sexuality, body image and relational impacts of illness. CONCLUSION: This journal has helped the discipline to flourish by publishing the innovative outputs of its community of researchers.


Asunto(s)
Neoplasias , Psicooncología , Adaptación Psicológica , Becas , Humanos , Neoplasias/psicología , Neoplasias/terapia , Psicooncología/métodos , Supervivencia
15.
J Pathol ; 255(1): 1-15, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33999421

RESUMEN

Extracranial rhabdoid tumours (ECRTs) are an aggressive malignancy of infancy and early childhood. The vast majority of cases demonstrate inactivation of SMARCB1 (ECRTSMARCB1 ) on a background of a remarkably stable genome, a low mutational burden, and no other recurrent mutations. Rarely, ECRTs can harbour the alternative inactivation of SMARCA4 (ECRTSMARCA4 ) instead of SMARCB1. However, very few ECRTSMARCA4 cases have been published to date, and a systematic characterization of ECRTSMARCA4 is missing from the literature. In this study, we report the clinical, pathological, and genomic features of additional cases of ECRTSMARCA4 and show that they are comparable to those of ECRTSMARCB1. We also assess whether ECRTSMARCB1 , ECRTSMARCA4 , and small cell carcinomas of the ovary, hypercalcaemic type (SCCOHT) represent distinct or overlapping entities at a molecular level. Using DNA methylation and transcriptomics-based tumour classification approaches, we demonstrate that ECRTSMARCA4 display molecular features intermediate between SCCOHT and ECRTSMARCB1 ; however, ECRTSMARCA4 appear to be more closely related to SCCOHT by DNA methylation. Conversely, both transcriptomics and DNA methylation show a larger gap between SCCOHT and ECRTSMARCB1 , potentially supporting their continuous separate classification. Lastly, we show that ECRTSMARCA4 display concomitant lack of SMARCA4 (BRG1) and SMARCA2 (BRM) expression at the protein level, similar to what is seen in SCCOHT. Overall, these results expand our knowledge on this rare tumour type and explore the similarities and differences among entities from the 'rhabdoid tumour' spectrum. © 2021 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.


Asunto(s)
ADN Helicasas/deficiencia , Proteínas Nucleares/deficiencia , Tumor Rabdoide/genética , Tumor Rabdoide/patología , Factores de Transcripción/deficiencia , Carcinoma de Células Pequeñas/genética , Carcinoma de Células Pequeñas/patología , Preescolar , ADN Helicasas/genética , Femenino , Humanos , Lactante , Masculino , Proteínas Nucleares/genética , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Proteína SMARCB1/deficiencia , Proteína SMARCB1/genética , Factores de Transcripción/genética
16.
Support Care Cancer ; 30(8): 6755-6766, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35524147

RESUMEN

AIM: As healthcare systems are increasingly burdened, the efficiencies and cost savings offered by connected health (CH, i.e. two-way communicative healthcare technologies such as eHealth or mHealth) present an attractive solution for supporting families impacted by cancer. More research is required, however, to examine attitudes towards CH to better facilitate its use in practice. This study seeks to examine the utility, barriers and facilitators of CH use for families affected by paediatric cancer living in Ireland. METHODS: Healthcare professionals (n = 5) and parents of children with cancer (n = 7) completed semi-structured interviews on their experiences of and attitudes to CH via Microsoft Teams. A reflexive thematic approach to analysis was employed. RESULTS: CH was perceived to provide support for a number of current needs with themes of 'shifting responsibilities', 'individualisation of care' and 'knowledge as power'. Through facilitating communication, information sharing and monitoring of child health, CH was perceived to support decreased parental burden and increased parental control, with positive child outcomes thought likely. Perceived barriers and facilitators to the use of CH included the 'importance of trust', 'pace of change' and 'access'. CONCLUSION: While results suggest an acceptance of CH across key stakeholders, barriers and facilitators should be considered to support effective implementation. While further analysis of the efficacy of CH to support families impacted by paediatric cancer is needed, these findings highlight key areas where CH may be effectively employed.


Asunto(s)
Neoplasias , Padres , Niño , Comunicación , Personal de Salud , Humanos , Neoplasias/terapia , Relaciones Padres-Hijo , Investigación Cualitativa
17.
Eur J Cancer Care (Engl) ; 31(6): e13698, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36069654

RESUMEN

OBJECTIVE: The aim of this study is to evaluate the effect of 'peer-assisted video-based education programme' (VTPA) and counselling to reduce anxiety in children newly diagnosed with cancer. METHODS: A non-randomised controlled trial design with repeated measures was conducted. The sample of the study consisted of 50 children between the ages of 9 and 18 who were newly diagnosed with cancer in the hospital. Intervention and control groups were created. Children in the intervention group received both VTPA training and counselling practice 3 days a week for 2 months. Data were collected with the State-Trait Anxiety Inventory for Children. The basal assessment in the research was the first meeting with the child, with interval assessments 1 month after, 2 months after and 3 months after the education. RESULTS: In the study, it was determined that the state anxiety mean scores of the children in the PAVEP and control groups differed over time (p < 0.05). However, it was determined that there was no difference between the trait anxiety mean scores of the children (p > 0.05). CONCLUSION: VTPA with peer assistance and counselling application supported the reduction of state anxiety in children newly diagnosed with cancer over time.


Asunto(s)
Ansiedad , Neoplasias , Niño , Humanos , Adolescente , Ansiedad/etiología , Ansiedad/prevención & control , Consejo , Trastornos de Ansiedad , Grupo Paritario , Neoplasias/terapia
18.
Eur J Cancer Care (Engl) ; 31(4): e13600, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35466488

RESUMEN

OBJECTIVE: This study aimed to investigate the coronavirus anxiety and caregiving burden of parents of children with cancer during the COVID-19 outbreak. METHODS: This descriptive and cross-sectional study, including 136 parents of children with cancer, was administered through an online survey at a university hospital from 1 to 31 January 2021. Participants completed a questionnaire form, the Zarit Caregiver Burden Scale and the Coronavirus Anxiety Scale. RESULTS: This study identified a significant difference in the caregiving burden scores of parents according to whether their relatives had been diagnosed with COVID-19, whether they were exposed to coronavirus in their environment and whether their children had other illnesses. A significant difference in the coronavirus anxiety scores of parents was observed according to their child's sex and the time elapsed since their child's cancer diagnosis. No correlation was identified between the Zarit Caregiver Burden Scale scores and the Coronavirus Anxiety Scale scores. CONCLUSION: Oncology nurses and other health professionals should be aware of and consider the factors that influence the caregiving burden and coronavirus-related anxiety experienced by parents of children with cancer during the COVID-19 outbreak.


Asunto(s)
COVID-19 , Neoplasias , Ansiedad/epidemiología , Ansiedad/etiología , Carga del Cuidador , Niño , Estudios Transversales , Brotes de Enfermedades , Humanos , Padres , Encuestas y Cuestionarios
19.
Eur J Cancer Care (Engl) ; 31(5): e13624, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35606331

RESUMEN

OBJECTIVE: We aimed to determine the feasibility and benefits of a videoconferencing-based home exercise programme to improve health-related quality of life (HRQOL), posttraumatic growth and physical strength levels of paediatric cancer survivors during the coronavirus disease 2019 (COVID-19). METHODS: Eight paediatric cancer survivors participated in the intervention for 8 weeks. The programme comprised home exercise sessions administered using Zoom, a videoconferencing platform. The supervised exercise sessions were performed two times per week; the participants were taught to perform joint exercises at home for the remaining 5 days of the week. HRQOL, posttraumatic growth and physical strength levels were assessed at baseline and after the intervention. RESULTS: The rates of recruitment, retention and attendance were 52.9%, 88.9% and 98.4%, respectively. There were no cases of adverse events. The programme significantly improved flexibility (z = -2.21, p = 0.03), muscle strength (z = -2.67, p = 0.01) and power (z = -2.41, p = 0.02) among five domains of physical fitness measured using a physical activity promotion system and also improved total physical strength (z = -2.67, p = 0.01). Posttraumatic growth decreased slightly, whereas HRQOL improved slightly; however, the change was not statistically significant. CONCLUSION: The study findings present preliminary evidence of the feasibility and benefits of this videoconferencing-based home exercise programme among paediatric cancer survivors.


Asunto(s)
COVID-19 , Supervivientes de Cáncer , Neoplasias , Niño , Terapia por Ejercicio , Estudios de Factibilidad , Humanos , Pandemias , Calidad de Vida , Comunicación por Videoconferencia
20.
Soins Pediatr Pueric ; 43(326): 28-30, 2022.
Artículo en Francés | MEDLINE | ID: mdl-35902149

RESUMEN

The association À Chacun Son Everest ! created in 1994 by Christine Janin, offers stays in the Chamonix valley (74) to children who have been through the ordeal of cancer. Accompanied by volunteer carers and the team at Chalet Vallot, they discover the mountains, their magnificence and their strength. The activities planned by the association, in contact with this grandiose environment, allow them to regain their self-confidence and to rebuild their lives after the harshness of the disease.


Asunto(s)
Autoimagen , Niño , Humanos
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