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https://www.readbyqxmd.com/read/29333004/drosha-rs642321-polymorphism-influence-susceptibility-to-childhood-acute-lymphoblastic-leukemia-a-preliminary-report
#1
Mohammad Hashemi, Seyed-Shahaboddin Hasani, Majid Naderi
Introduction: It has been well known that the microRNA biogenesis is involved in the pathogenesis of various diseases. We investigated the possible association between DROSHA rs642321 variant and risk of acute lymphocytic leukemia (ALL). Materials and Methods: We genotyped 75 children diagnosed with ALL and 115 age- and sex-matched children with no history of cancer of any type (as the control group) by the tetra amplification refractory mutation system-polymerase chain reaction...
October 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29324471/sellar-region-atypical-teratoid-rhabdoid-tumors-atrt-in-adults-display-dna-methylation-profiles-of-the-atrt-myc-subgroup
#2
Pascal D Johann, Susanne Bens, Florian Oyen, Rabea Wagener, Caterina Giannini, Arie Perry, Jack M Raisanen, Gerald F Reis, Sumihito Nobusawa, Kazunori Arita, Jörg Felsberg, Guido Reifenberger, Abbas Agaimy, Rolf Buslei, David Capper, Stefan M Pfister, Reinhard Schneppenheim, Reiner Siebert, Michael C Frühwald, Werner Paulus, Marcel Kool, Martin Hasselblatt
Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly encountered in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. A small group of ATRT stands out clinically, because these tumors are located in the sellar region of adults. To investigate if sellar region ATRT in adults represents a molecular distinct entity, we characterized molecular alterations in 7 sellar region ATRTs in adults as compared with 150 pediatric ATRTs and 47 pituitary adenomas using SMARCB1 sequencing, multiplex ligation-dependent probe amplification and fluorescence in situ hybridization as well as DNA methylation profiling...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29322842/cd133-expression-and-mycn-amplification-induce-chemoresistance-and-reduce-average-survival-time-in-pediatric-neuroblastoma
#3
Zhi-Yong Zhong, Bao-Jun Shi, Hui Zhou, Wen-Bo Wang
Objectives Neuroblastoma (NB) is the most common pediatric solid tumor derived from the sympathetic nervous system. MYCN is amplified in nearly half of patients with NB, and its association with rapid disease progression and poor outcome is controversial. Characterization of cancer stem cells (CSCs) in NBs has been rarely studied. This study was performed to determine whether MYCN and CD133+ CSCs are associated with chemotherapy resistance and the survival time of patients with NB. Methods Fifty patients with an unequivocal pathological diagnosis of NB were recruited...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29284669/c-myc-drives-a-subset-of-high-risk-pediatric-neuroblastomas-and-is-activated-through-mechanisms-including-enhancer-hijacking-and-focal-enhancer-amplification
#4
Mark W Zimmerman, Yu Liu, Shuning He, Adam D Durbin, Brian J Abraham, John Easton, Ying Shao, Beisi Xu, Shizhen Zhu, Xiaoling Zhang, Zhaodong Li, Nina Weichert-Leahey, Richard A Young, Jinghui Zhang, A Thomas Look
The amplified MYCN gene serves as an oncogenic driver in approximately 20% of high-risk pediatric neuroblastomas. Here we show that the family member c-MYC is a potent transforming gene in a separate subset of high-risk neuroblastoma cases (~10%), based on (i) its upregulation by focal enhancer amplification or genomic rearrangements leading to enhancer hijacking, and (ii) its ability to transform neuroblastoma precursor cells in a transgenic animal model. The aberrant regulatory elements associated with oncogenic c-MYC activation include focally amplified distal enhancers and translocation of highly active enhancers from other genes to within topologically associating domains containing the c-MYC gene locus...
December 28, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/29236269/the-value-of-assr-threshold-based-bilateral-hearing-aid-fitting-in-children-with-difficult-or-unreliable-behavioral-audiometry
#5
Petros V Vlastarakos, Alexandra Vasileiou, Thomas P Nikolopoulos
We conducted an analysis to assess the relative contribution of auditory brainstem response (ABR) testing and auditory steady-state response (ASSR) testing in providing appropriate hearing aid fitting in hearing-impaired children with difficult or unreliable behavioral audiometry. Of 150 infants and children who had been referred to us for hearing assessment as part of a neonatal hearing screening and cochlear implantation program, we identified 5 who exhibited significant discrepancies between click-ABR and ASSR testing results and difficult or unreliable behavioral audiometry...
December 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/29230288/embryonal-tumor-with-multilayered-rosettes-c19mc-altered-report-of-an-extremely-rare-malignant-pediatric-central-nervous-system-neoplasm
#6
Muhammad Usman Tariq, Zubair Ahmad, Muhammad Khurram Minhas, Aisha Memon, Noreen Mushtaq, Cynthia Hawkins
The 2016 update of the WHO Classification of Tumours of the Central Nervous System has redefined a number of tumors. Embryonal tumor with multilayered rosettes, C19MC-altered is one such tumor entity which has been newly defined on the basis of a characteristic molecular alteration. We report, to our knowledge, the first case of this rare pediatric brain neoplasm in the Pakistani population. An 8-month-old girl was presented with vomiting and left-sided ptosis, and magnetic resonance imaging scan showed a cerebellar tumor...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29211059/improving-clinical-diagnosis-in-shox-deficiency-the-importance-of-growth-velocity
#7
Giulia Genoni, Alice Monzani, Matteo Castagno, Roberta Ricotti, Anna Rapa, Antonella Petri, Deepak Babu, Mara Giordano, Flavia Prodam, Gianni Bona, Simonetta Bellone
BackgroundThe aim of this study was to estimate the prevalence of haploinsufficiency of short stature homeobox containing gene (SHOX) deficiency (SHOXD) in a population of short-statured children, and to analyze their phenotype and the performance of clinical scores.MethodsScreening for SHOXD was performed in 281 children with short stature by direct sequencing and multiplex ligation probe-dependent amplification. Subjects with SHOXD were compared with 117 matched short patients without SHOXD. We calculated the cutoff of growth velocity associated with the highest sensitivity and specificity as a screening test for SHOXD by receiver operating characteristic curves...
December 6, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29206935/report-of-a-myocarditis-outbreak-among-pediatric-patients-human-herpesvirus-7-as-a-causative-agent
#8
Rahmi Ozdemir, Mehmet Kucuk, Saime Ergen Dibeklioglu
Background: The etiology of myocarditis in children has not yet been completely elucidated. Objective: Medical records of eight pediatric patients diagnosed with acute myocarditis within a 41-day period in a small-town hospital were retrospectively analyzed. Methods: We examined antibody titers of adenovirus, Epstein-Barr virus, herpes simplex virus, respiratory syncytial virus, varicella-zoster virus and cytomegalovirus in peripheral blood...
November 30, 2017: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29200119/pediatric-brain-tumors
#9
Mai Dang, Peter C Phillips
PURPOSE OF REVIEW: This article describes the most common pediatric brain tumors and highlights recent developments in their diagnosis and treatment strategies. RECENT FINDINGS: We are in the midst of a molecular era for pediatric brain tumors. Genetic and epigenetic profiling of tumors has impacted their diagnosis, allowing for the subgrouping of heterogeneous tumor groups and leading to the complete renaming of some tumor types. These advances are reflected in the new 2016 World Health Organization classification...
December 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29188610/-genetic-analysis-of-two-pediatric-patients-with-beckwith-wiedemann-syndrome
#10
Xiaoying Li, Yuqiang Lyu, Min Gao, Xiuli Yan, Chen Meng, Kaihui Zhang, Yi Liu, Zhongtao Gai
OBJECTIVE: To explore the genetic cause for two children with omphalocele. METHODS: The patients were examined, and the medical history of their families was collected. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to detect potential mutation in the patients. RESULTS: Loss of methylation of imprinting center 2 (IC2) at the 11p15.5 region of the maternal chromosome was detected in both children...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29173061/targeted-sequencing-of-malignant-supratentorial-pediatric-brain-tumors-demonstrates-a-high-frequency-of-clinically-relevant-mutations
#11
Bonnie L Cole, Colin C Pritchard, Maia Anderson, Sarah Es Leary
Pediatric brain tumors cause more deaths than any other childhood malignancy, and the identification of potentially actionable genomic alterations in this rare heterogeneous group of tumors may improve treatment and outcome. The genetic landscape of common posterior fossa tumors has been described in the past several years, yet the classification of malignant pediatric supratentorial tumors remains controversial. Next-generation sequencing is a promising tool to evaluate multiple genes concurrently. The clinical utility of next-generation sequencing has not been proven in pediatric brain tumors...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29163537/mycn-amplification-is-associated-with-repressed-cellular-immunity-in-neuroblastoma-an-in-silico-immunological-analysis-of-target-database
#12
Peng Zhang, Xiaofang Wu, Moushumi Basu, Chen Dong, Pan Zheng, Yang Liu, Anthony David Sandler
Purpose: RNA and DNA sequencing data are traditionally used to discern intrinsic cellular pathways in cancer pathogenesis, their utility for investigating the tumor microenvironment (TME) has not been fully explored. This study explores the use of sequencing data to investigate immunity within the TME. Experimental design: Here, we use immune cell fraction estimation analysis to determine the immune profiles in the microenvironment of neuroblastoma (NB) based on RNA-seq data in the TARGET database...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29161262/the-value-of-confirmatory-testing-in-early-infant-hiv-diagnosis-programmes-in-south-africa-a-cost-effectiveness-analysis
#13
Lorna Dunning, Jordan A Francke, Divya Mallampati, Rachel L MacLean, Martina Penazzato, Taige Hou, Landon Myer, Elaine J Abrams, Rochelle P Walensky, Valériane Leroy, Kenneth A Freedberg, Andrea Ciaranello
BACKGROUND: The specificity of nucleic acid amplification tests (NAATs) used for early infant diagnosis (EID) of HIV infection is <100%, leading some HIV-uninfected infants to be incorrectly identified as HIV-infected. The World Health Organization recommends that infants undergo a second NAAT to confirm any positive test result, but implementation is limited. Our objective was to determine the impact and cost-effectiveness of confirmatory HIV testing for EID programmes in South Africa...
November 2017: PLoS Medicine
https://www.readbyqxmd.com/read/29141312/-clinical-manifestation-and-gene-analyses-of-15-patients-with-intellectual-disability-or-developmental-delay-complicated-with-congenital-nystagmus
#14
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29137381/gene-expression-and-molecular-pathway-activation-signatures-of-mycn-amplified-neuroblastomas
#15
Ivan Petrov, Maria Suntsova, Elena Ilnitskaya, Sergey Roumiantsev, Maxim Sorokin, Andrew Garazha, Pavel Spirin, Timofey Lebedev, Nurshat Gaifullin, Sergey Larin, Olga Kovalchuk, Dmitry Konovalov, Vladimir Prassolov, Alexander Roumiantsev, Anton Buzdin
Neuroblastoma is a pediatric cancer arising from sympathetic nervous system. Remarkable heterogeneity in outcomes is one of its widely known features. One of the traits strongly associated with the unfavorable subtype is the amplification of oncogene MYCN. Here, we performed cross-platform biomarker detection by comparing gene expression and pathway activation patterns from the two literature reports and from our experimental dataset, combining profiles for the 761 neuroblastoma patients with known MYCN amplification status...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29130438/segmental-and-suprasegmental-perception-in-children-using-hearing-aids
#16
Kaitlyn A Wenrich, Lisa S Davidson, Rosalie M Uchanski
BACKGROUND: Suprasegmental perception (perception of stress, intonation, "how something is said" and "who says it") and segmental speech perception (perception of individual phonemes or perception of "what is said") are perceptual abilities that provide the foundation for the development of spoken language and effective communication. While there are numerous studies examining segmental perception in children with hearing aids (HAs), there are far fewer studies examining suprasegmental perception, especially for children with greater degrees of residual hearing...
November 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/29124525/heterogeneity-in-retinoblastoma-a-tale-of-molecules-and-models
#17
REVIEW
Sonya Stenfelt, Maria K E Blixt, Charlotta All-Ericsson, Finn Hallböök, Henrik Boije
Retinoblastoma, an intraocular pediatric cancer, develops in the embryonic retina following biallelic loss of RB1. However, there is a wide range of genetic and epigenetic changes that can affect RB1 resulting in different clinical outcomes. In addition, other transformations, such as MYCN amplification, generate particularly aggressive tumors, which may or may not be RB1 independent. Recognizing the cellular characteristics required for tumor development, by identifying the elusive cell-of-origin for retinoblastoma, would help us understand the development of these tumors...
November 9, 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/29114001/impaired-central-pulsatile-hemodynamics-in-children-and-adolescents-with-marfan-syndrome
#18
Andrea Grillo, Paolo Salvi, Susan Marelli, Lan Gao, Lucia Salvi, Andrea Faini, Giuliana Trifirò, Renzo Carretta, Alessandro Pini, Gianfranco Parati
BACKGROUND: Marfan syndrome is characterized by aortic root dilation, beginning in childhood. Data about aortic pulsatile hemodynamics and stiffness in pediatric age are currently lacking. METHODS AND RESULTS: In 51 young patients with Marfan syndrome (12.0±3.3 years), carotid tonometry was performed for the measurement of central pulse pressure, pulse pressure amplification, and aortic stiffness (carotid-femoral pulse wave velocity). Patients underwent an echocardiogram at baseline and at 1 year follow-up and a genetic evaluation...
November 7, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29110105/recent-issues-in-pediatric-clostridium-difficile-infection
#19
REVIEW
Jason A Clayton, Philip Toltzis
PURPOSE OF REVIEW: We focus on two recent aspects of Clostridium difficile infection (CDI) in children, namely the emergence of community-associated CDI (CA-CDI) and the incidence and prevention of recurrent CDI. RECENT FINDINGS: Current surveys suggest that a large proportion of all pediatric CDI is acquired in the community. Risk factors and frequency estimates of pediatric CA-CDI, however, are confounded in babies and toddlers by a high rate of asymptomatic excretion, whose detection likely is exaggerated by the wide use of highly sensitive nucleic acid amplification tests...
November 7, 2017: Current Infectious Disease Reports
https://www.readbyqxmd.com/read/29107533/h3-3-k27m-cooperates-with-trp53-loss-and-pdgfra-gain-in-mouse-embryonic-neural-progenitor-cells-to-induce-invasive-high-grade-gliomas
#20
Manav Pathania, Nicolas De Jay, Nicola Maestro, Ashot S Harutyunyan, Justyna Nitarska, Pirasteh Pahlavan, Stephen Henderson, Leonie G Mikael, Angela Richard-Londt, Ying Zhang, Joana R Costa, Steven Hébert, Sima Khazaei, Nisreen Samir Ibrahim, Javier Herrero, Antonella Riccio, Steffen Albrecht, Robin Ketteler, Sebastian Brandner, Claudia L Kleinman, Nada Jabado, Paolo Salomoni
Gain-of-function mutations in histone 3 (H3) variants are found in a substantial proportion of pediatric high-grade gliomas (pHGG), often in association with TP53 loss and platelet-derived growth factor receptor alpha (PDGFRA) amplification. Here, we describe a somatic mouse model wherein H3.3(K27M) and Trp53 loss alone are sufficient for neoplastic transformation if introduced in utero. H3.3(K27M)-driven lesions are clonal, H3K27me3 depleted, Olig2 positive, highly proliferative, and diffusely spreading, thus recapitulating hallmark molecular and histopathological features of pHGG...
November 13, 2017: Cancer Cell
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