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Berlin Brandenburg

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  • 1
    Language: English
    In: Nature, 28 September 2017, Vol.549(7673), pp.460-461
    Description: Efforts to treat brain tumours by targeting cancer cells have had only modest clinical success. It emerges that targeting a protein secreted from neurons adjacent to the tumour might be a useful alternative approach.
    Keywords: Glioma
    ISSN: 00280836
    E-ISSN: 1476-4687
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  • 2
    In: Nature, 2017
    Keywords: Gliomas -- Care And Treatment ; Gliomas -- Development And Progression ; Cellular Signal Transduction -- Health Aspects;
    ISSN: 0028-0836
    E-ISSN: 1476-4687
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  • 3
    In: Nature Genetics, 2015, Vol.47(8), p.851
    Description: Relapsed neuroblastoma is common, frequently lethal and poorly studied and poses a major treatment challenge. Two new studies shed light on the genomic landscape of recurrent neuroblastoma and demonstrate profound differences between the disease at diagnosis and relapse.
    Keywords: Genomics ; Neoplasm Recurrence, Local -- Genetics ; Neuroblastoma -- Genetics;
    ISSN: 1061-4036
    E-ISSN: 15461718
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  • 4
    Language: English
    In: Nature medicine, May 2018, Vol.24(5), pp.534-535
    Description: Anti-GD2 chimeric antigen receptor (CAR)-modified T cells may be a new and innovative approach for the treatment of pediatric H3-K27M-mutant diffuse midline gliomas.
    Keywords: Children ; Lymphocytes T ; Lymphocytes;
    ISSN: 10788956
    E-ISSN: 1546-170X
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  • 5
    Language: English
    In: European Journal of Cancer, January 2017, Vol.70, pp.34-41
    Description: Ependymomas are the third commonest paediatric central nervous system (CNS) tumour, accounting for 6–12% of brain tumours in children. The management of these tumours has seen considerable changes over the last two decades, leading to a significant improvement in outcomes. However, despite advances in neurosurgical, neuroimaging and postoperative adjuvant therapy, management of these tumours remain challenging, and recurrence occurs in over 50% of cases, particularly when complete resection is not achieved prior to conformal radiotherapy. To-date no chemotherapeutic regimen has proven to be of significant clinical benefit. Predicting tumour behaviour and defining robust correlates of disease outcome based on histopathology and clinical characteristics remains suboptimal. Paucity of cell lines, failure to develop ideal animal models of these tumours, have precluded better understanding of the oncogenic drivers, undermining development of targeted therapies. Over the last few years breakthrough in the understanding of the molecular biology, are now providing clues to therapeutic insights. It is clear that even with histopathological similarities, these are genetically heterogeneous tumours with diverse clinical outcomes. Rapid evolution of data based on genome-wide DNA methylation patterns, have now identified nine molecular subgroups in these tumours, across three anatomic compartments which include supratentorial (ST), posterior fossa (PF) and the spinal locations. More recently based on transcriptome profiling, two subgroups (group A and B) of PF ependymoma have been identified with distinct molecular, clinical characteristics and specific chromosomal aberrations. This review includes current management, evolving molecular biology and the shifting paradigm of treatment profile that targets molecular alterations in paediatric ependymoma.
    Keywords: Paediatric Ependymoma ; Current Therapy ; Molecular Biology ; Therapeutic Insights ; Medicine
    ISSN: 0959-8049
    E-ISSN: 1879-0852
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  • 6
    In: Nature Medicine, 2014, Vol.20(12), p.1378
    Description: Despite advances in chemotherapy and radiation over the past 40 years, the outcome for children with diffuse intrinsic pontine gliomas (DIPGs) remains almost uniformly fatal, with survival of less than 12 months despite numerous trials of chemotherapy, targeted agents and radiation therapy. Recently, large genome-sequencing studies of pediatric high-grade gliomas have been carried out and have consistently identified a lysine to methionine (K27M) substitution in histones H3.1 and H3.3 in over 80% of midline high-grade gliomas and DIPGs2.
    Keywords: Tumors ; Chemotherapy ; Radiation Therapy ; Medical Research ; Epigenetics;
    ISSN: 1078-8956
    E-ISSN: 1546170X
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  • 7
    Language: English
    In: Pediatric Neurology, August 2011, Vol.45(2), pp.117-120
    Description: We report the case of a 29-month-old boy with spasticity and periventricular white matter changes on magnetic resonance imaging in whom a complex rearrangement consisting of a de novo duplication of 14q32.31q32.33 and deletion of 14q32.33 was identified by array-based comparative genomic hybridization. Our case replicates some of the previous features associated with chromosome 14q duplication and deletion while expanding its clinical spectrum with pyramidal tract dysfunction signs and neuroimaging features. Genomic lesions should be considered in cases of leukodystrophies, and genome-wide studies such as array-based comparative genomic hybridization could be considered in the assessment of undefined white matter disorders.
    Keywords: Medicine
    ISSN: 0887-8994
    E-ISSN: 1873-5150
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  • 8
    In: Developmental Medicine & Child Neurology, June 2012, Vol.54(6), pp.563-568
    Description: Neurocutaneous melanocytosis is a rare neurocutaneous syndrome defined by the presence of large and/or multiple congenital cutaneous nevi and melanocytic deposits in the central nervous system. We sought to define the spectrum of central nervous system abnormalities in children with neurocutaneous melanocytosis. We retrospectively reviewed cases of neurocutaneous melanocytosis referred to the pediatric neuro‐oncology service at our center from 2003 to 2010. Of 14 patients (11 males, 3 females) identified, eight were living. Median age of survivors was 31 months (range 12mo–6y 10mo) while median age of death was 81 months (19mo–28y). Of the six patients who died, all had diffuse leptomeningeal melanocytic deposits and four had leptomeningeal melanoma. All patients had neuroimaging: six had findings suggestive of diffuse leptomeningeal melanocytosis; seven had multifocal melanocytic deposits; and one patient had normal neuroimaging but focal seizures. Spinal abnormalities were common: three patients had extensive dorsal spinal arachnoid cysts and one had a benign cervical spindle cell tumor. Seven patients had epilepsy. Three patients had profound developmental delay; the other 11 patients had no or mild delay. Children with neurocutaneous melanocytosis exhibit a wide range of intracranial and intraspinal abnormalities and variable clinical outcomes.
    Keywords: Medicine;
    ISSN: 0012-1622
    E-ISSN: 1469-8749
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  • 9
    Language: English
    In: Pediatric Neurology, 2010, Vol.43(3), pp.209-212
    Description: The past decade has witnessed a tremendous increase in our ability to identify precise genetic etiologies of developmental delay and intellectual disability. Mutations in various transcription factors were found in patients with intellectual disability. Specifically, the importance of a subgroup of transcription factors containing zinc finger motifs have been increasingly recognized in developmental delay and intellectual disability. We present a patient with intellectual disability in whom the duplication of two genes, and , was identified through array-based comparative genomic hybridization. Our report reinforces the role of zinc finger transcription factors in cognitive development. Furthermore, it illustrates that not only deletions, but duplications, can cause developmental delay and intellectual disability.
    Keywords: Medicine
    ISSN: 0887-8994
    E-ISSN: 1873-5150
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  • 10
    Language: English
    In: Journal of neurosurgery. Pediatrics, March 2018, Vol.21(3), pp.336
    ISSN: 19330707
    E-ISSN: 1933-0715
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