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Childhood astrocytoma

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https://www.readbyqxmd.com/read/29204195/magnitude-of-neurogenic-tumor-burden-in-pediatric-population-a-tertiary-care-center-study
#1
Shagufta Qadri, Mahboob Hasan, Kafil Akhtar
Objective: Progress in the diagnosis and treatment of childhood neoplasm in the past few decades is one of the most gratifying achievements in the field of oncology. This study was aimed to ascertain the burden (incidence and prevalence) and histopathologic features of neurogenic tumors occurring in the pediatric population. Materials and Methods: The study evaluated a total of 492 cases of pediatric tumors over a period of 8 years from 2007 to 2015, including patients of 0-12 years of age group; attending the out-patients and in-patients Department of Pediatrics and Pediatric Surgery at Jawaharlal Nehru Medical College, AMU, Aligarh, with the complaints of tumor or tumor associated sign and symptoms...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29188212/supratentorial-pilocytic-astrocytoma-mimicking-convexity-meningioma-with-early-anaplastic-transformation-a-case-report
#2
Jung Hwan Lee, Soon Ki Sung, Chang Hwa Choi
Meningiomas and pilocytic astrocytomas are benign intracranial tumors. Pilocytic astrocytomas arises frequently at the posterior fossa in childhood. Meningiomas have several image findings, such as a dural tail sign, bony erosion, and sunburst appearance on angiography. However, pilocytic astrocytomas with these findings have been rarely reported. In this report, we describe a mass with typical image findings of a meningioma, but diagnosed as a supratentorial pilocytic astrocytoma with early anaplastic transformation...
October 2017: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/29118478/intraoperative-squash-smear-cytology-in-cns-lesions-a-study-of-150-pediatric-cases
#3
Arpita Jindal, Kanwalpreet Kaur, Kusum Mathur, Vinod Kumari, Himanshi Diwan
Background: Tumors of the central nervous system in the pediatric age group occur relatively frequently during the early years of life. Brain tumors are the most common solid malignancies of childhood and only second to acute childhood leukemia. Squash cytology is an indispensable diagnostic aid to central nervous system (CNS) lesions. The definitive diagnosis of brain lesions is confirmed by histological examination. Aim: To study the cytology of CNS lesions in pediatric population and correlate it with histopathology...
October 2017: Journal of Cytology
https://www.readbyqxmd.com/read/29076966/revisiting-tumor-patterns-and-penetrance-in-germline-tp53-mutation-carriers-temporal-phases-of-li-fraumeni-syndrome
#4
Amina Amadou, Maria I Waddington Achatz, Pierre Hainaut
PURPOSE OF REVIEW: Germline pathogenic TP53 mutation may predispose to multiple cancers but penetrance and cancer patterns remain incompletely documented. We have analyzed international agency for research on cancer TP53 database to reevaluate age and variant-dependent tumor patterns. RECENT FINDINGS: Genome-wide studies suggest that germline variants are more frequent than estimated prevalence of Li-Fraumeni syndrome (LFS), suggesting that many carriers of potentially pathogenic mutations may not develop the syndrome...
January 2018: Current Opinion in Oncology
https://www.readbyqxmd.com/read/29063957/significance-of-h3k27m-mutation-with-specific-histomorphological-features-and-associated-molecular-alterations-in-pediatric-high-grade-glial-tumors
#5
Süheyla Uyar Bozkurt, A Dagcinar, B Tanrikulu, N Comunoglu, B C Meydan, M Ozek, B Oz
PURPOSE: Pediatric high-grade gliomas (pHGGs) constitute almost 15% of all childhood brain tumors. Recurrent mutations such as H3K27M mutation in H3F3A and HIST1H3B genes encoding histone H3 and its variants were identified in approximately 30% of pediatric glioblastomas. This study aimed to ascertain the morphological and molecular characteristics of pHGGs with H3K27M mutation. METHODS: In total, 61 cases of pHGGs (anaplastic astrocytoma, 12; glioblastomas, 49) from four university hospitals were studied...
October 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29045978/-clinicopathologic-features-of-infant-dysembryoplastic-neuroepithelial-tumor-a-case-report-and-literature-review
#6
H Wang, J T Ye, H X Yao, D Li, Y Dong
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28968151/cerebellar-pilocytic-astrocytoma-in-childhood-investigating-the-long-term-impact-of-surgery-on-cognitive-performance-and-functional-outcome
#7
Thomas Pletschko, Anna Felnhofer, Doris Lamplmair, Christian Dorfer, Thomas Czech, Monika Chocholous, Irene Slavc, Ulrike Leiss
OBJECTIVE: Previous studies differ regarding the long-term effects of surgically removed pediatric cerebellar pilocytic astrocytomas (CPA). Thus, the aim of this study was to investigate the long-term impact on neurocognitive and functional outcome and to analyze age as an influencing factor. METHODS: Fourteen CPA patients were compared to the age norm and to a group of 14 high-achieving peers regarding cognitive functioning, health-related quality of life (HRQoL), and stress regulation...
October 2, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28941523/a-review-of-visual-and-oculomotor-outcomes-in-children-with-posterior-fossa-tumors
#8
Crandall E Peeler
Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the following 3 most common tumor types-medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9%-8.3%), with patients having juvenile pilocytic astrocytoma demonstrating the best outcomes...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28913566/adar-rna-editing-in-human-disease-more-to-it-than-meets-the-i
#9
REVIEW
Angela Gallo, Dragana Vukic, David Michalík, Mary A O'Connell, Liam P Keegan
We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-Goutières Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction...
September 2017: Human Genetics
https://www.readbyqxmd.com/read/28828715/treatment-of-childhood-astrocytomas-with-irinotecan-and-cisplatin
#10
J Mora, S Perez-Jaume, O Cruz
BACKGROUND: Previously we described the outcome of children with spinal cord astrocytoma treated with irinotecan and cisplatin (I/C). We here report the review of the initial institutional experience using this combination for children with low-grade glioma (LGG). PROCEDURE: I/C chemotherapy consisted of weekly cisplatin (30 mg/m(2)) and irinotecan (50-65 mg/m(2)) for a total maximum of 16 doses, administered in an outpatient basis. RESULTS: Between November 2002 and December 2009, 46 children (median age 6...
August 21, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28805995/germline-pms2-and-somatic-pole-exonuclease-mutations-cause-hypermutability-of-the-leading-dna-strand-in-biallelic-mismatch-repair-deficiency-syndrome-brain-tumours
#11
Maria A Andrianova, Ghati Kasturirangan Chetan, Madathan Kandi Sibin, Thomas Mckee, Doron Merkler, Rao Kvl Narasinga, Pascale Ribaux, Jean-Louis Blouin, Periklis Makrythanasis, Vladimir B Seplyarskiy, Stylianos E Antonarakis, Sergey I Nikolaev
Biallelic mismatch repair deficiency (bMMRD) in tumours is frequently associated with somatic mutations in the exonuclease domains of DNA polymerases POLE or POLD1, and results in a characteristic mutational profile. In this article, we describe the genetic basis of ultramutated high-grade brain tumours in the context of bMMRD. We performed exome sequencing of two second-cousin patients from a large consanguineous family of Indian origin with early onset of high-grade glioblastoma and astrocytoma. We identified a germline homozygous nonsense variant, p...
November 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28674731/tractography-guides-the-approach-for-resection-of-thalamopeduncular-tumors
#12
Ryan Foley, Frederick Boop
BACKGROUND: Thalamopeduncular tumors arise at the junction of the inferior thalamus and cerebral peduncle, and present with a common clinical syndrome of progressive spastic hemiparesis. METHOD: Formal preoperative magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) were performed. Postoperative MRI was obtained to evaluate the extent of tumor resection. A prospective analysis of clinical outcomes was then conducted by the senior author. CONCLUSIONS: Preoperative tractography is a useful adjunct to surgical planning in tumors that displace motor pathways...
July 3, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28620004/cancer-and-central-nervous-system-tumor-surveillance-in-pediatric-neurofibromatosis-1
#13
REVIEW
D Gareth R Evans, Hector Salvador, Vivian Y Chang, Ayelet Erez, Stephan D Voss, Kami Wolfe Schneider, Hamish S Scott, Sharon E Plon, Uri Tabori
Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28606795/endothelium-independent-primitive-myxoid-vascularization-creates-invertebrate-like-channels-to-maintain-blood-supply-in-optic-gliomas
#14
Matija Snuderl, Guoan Zhang, Pamela Wu, Tara S Jennings, Seema Shroff, Valerio Ortenzi, Rajan Jain, Benjamin Cohen, Jason J Reidy, Mitchell S Dushay, Jeffrey H Wisoff, David H Harter, Matthias A Karajannis, David Fenyo, Thomas A Neubert, David Zagzag
Optic gliomas are brain tumors characterized by slow growth, progressive loss of vision, and limited therapeutic options. Optic gliomas contain various amounts of myxoid matrix, which can represent most of the tumor mass. We sought to investigate biological function and protein structure of the myxoid matrix in optic gliomas to identify novel therapeutic targets. We reviewed histological features and clinical imaging properties, analyzed vasculature by immunohistochemistry and electron microscopy, and performed liquid chromatography-mass spectrometry on optic gliomas, which varied in the amount of myxoid matrix...
August 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28485351/pediatric-brain-tumors-an-analysis-of-5-years-of-data-from-a-tertiary-cancer-care-center-india
#15
R Madhavan, B P Kannabiran, A M Nithya, J Kani, P Balasubramaniam, S Shanmugakumar
BACKGROUND: Pediatric brain tumors are the most common solid tumors in children and a leading cause of mortality and morbidity in children worldwide. Even though there are enough data about the epidemiology of pediatric brain tumors in western population, there are only a few reports from developing countries like India. AIMS: To study the epidemiological patterns of brain tumors in children, to study the patterns of care, and to assess the treatment response. MATERIALS AND METHODS: A retrospective epidemiological approach is used...
October 2016: Indian Journal of Cancer
https://www.readbyqxmd.com/read/28477209/parental-smoking-maternal-alcohol-coffee-and-tea-consumption-and-the-risk-of-childhood-brain-tumours-the-estelle-and-escale-studies-sfce-france
#16
Helen D Bailey, Brigitte Lacour, Léa Guerrini-Rousseau, Anne-Isabelle Bertozzi, Pierre Leblond, Cécile Faure-Conter, Isabelle Pellier, Claire Freycon, François Doz, Stéphanie Puget, Stéphane Ducassou, Laurent Orsi, Jacqueline Clavel
PURPOSE: To investigate whether parental smoking around the time of pregnancy or maternal consumption of beverages (alcohol, coffee, or tea) during pregnancy were associated with the risk of CBT. METHODS: We pooled data from two French national population-based case-control studies with similar designs conducted in 2003-2004 and 2010-2011. The mothers of 510 CBT cases (directly recruited from the national childhood cancer register) and 3,102 controls aged under 15 years, frequency matched by age and gender, were interviewed through telephone, which included questions about prenatal parental smoking and maternal consumption of alcohol, coffee and tea...
May 5, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28388012/methylation-profiling-of-paediatric-pilocytic-astrocytoma-reveals-variants-specifically-associated-with-tumour-location-and-predictive-of-recurrence
#17
Alexandra Sexton-Oates, Andrew Dodgshun, Volker Hovestadt, David T W Jones, David M Ashley, Michael Sullivan, Duncan MacGregor, Richard Saffery
Childhood pilocytic astrocytomas (PA) are low grade tumours with an excellent prognosis. However, a minority, particularly those in surgically inaccessible locations, have poorer long term outcome. At present it is unclear whether anatomical location in isolation, or in combination with underlying biological variation, determines clinical behaviour. Here we have tested the utility of DNA methylation profiling to inform tumour biology and to predict behaviour in paediatric PA. Genome-wide DNA methylation profiles were generated for 117 paediatric PAs...
April 7, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28387652/pediatric-ependymoma-a-proteomics-perspective
#18
George Th Tsangaris, Chrissa Papathanasiou, Panagiotis G Adamopoulos, Andreas Scorilas, Constantinos E Vorgias, Neofytos Prodromou, Foteini Tzortzatou Stathopoulou, Dimitrios J Stravopodis, Athanasios K Anagnostopoulos
BACKGROUND/AIM: Proteomics based on high-resolution mass spectrometry (MS) is the tool of choice for the analysis of protein presence, modifications and interactions, with increasing emphasis on the examination of tumor tissues. Application of MS-based proteomics offers a detailed picture of tumor tissue characteristics, facilitating the appreciation of different tumor entities, whilst providing reliable and fast results for therapeutic marker targeting and prognostic factor assessment...
March 2017: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/28362182/pediatric-spinal-cord-astrocytomas-a-retrospective-study-of-348-patients-from-the-seer-database
#19
Andrew S Luksik, Tomas Garzon-Muvdi, Wuyang Yang, Judy Huang, George I Jallo
OBJECTIVE Intramedullary spinal cord tumors comprise 1%-10% of all childhood central nervous system neoplasms, with astrocytomas representing the most common subtype. Due to their rarity and poor prognosis, large population-based studies are needed to assess the epidemiology and survival risk factors associated with these tumors in the hope of improving outcome. The authors undertook this retrospective study to explore factors that may influence survival in pediatric patients with spinal cord astrocytomas. METHODS Utilizing the Surveillance, Epidemiology, and End Results (SEER) database, a prospective cancer registry, the authors retrospectively assessed survival in histologically confirmed, primary spinal cord astrocytomas in patients 21 years of age and younger...
June 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28357411/gnao1-encephalopathy-broadening-the-phenotype-and-evaluating-treatment-and-outcome
#20
Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren J Carss, F Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C Dale, Shekeeb S Mohammad, Ubaid Shah, Neil Mahant, Joanne Ng, Amy McTague, Rajib Samanta, Gayatri Vadlamani, Enza Maria Valente, Vincenzo Leuzzi, Manju A Kurian, Renzo Guerrini
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients with de novo missense and splice site GNAO1 mutations, detected by next-generation sequencing techniques. RESULTS: Patients first presented in early childhood (median age of presentation 10 months, range 0-48 months), with a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, self-injurious behavior, and epileptic encephalopathy to a milder phenotype, featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy...
April 2017: Neurology. Genetics
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