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https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#1
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27889662/pediatric-pineal-germinomas-epigenetic-and-genomic-approach
#2
Monserrat Pérez-Ramírez, Alejo Justino Hernández-Jiménez, Armando Guerrero-Guerrero, Alicia Georgina Siordia-Reyes, Marta Elena Hernández-Caballero, Antonio García-Méndez, Fernando Chico-Ponce de León, Fabio Abdel Salamanca-Gómez, Normand García-Hernández
OBJECTIVE: We identify and correlate chromosomal alterations, methylation patterns and gene expression in pediatric pineal germinomas. METHODS: CGH microarray, methylation and gene expression were performed through the Agilent platform. The results were analyzed with MatLab software, MapViewer, DAVID, GeneCards and Hippie. RESULTS: Amplifications were found in 1q24.2, 1q31.3, 2p11.2, 3p22.2, 7p13, 7p15.2, 8p22, 12p13.2, 14q24.3 y 22q12; and deletions were found in 1q21...
November 19, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27821228/-abnormality-of-top2a-expression-and-its-gene-copy-number-variations-in-neuroblastic-tumors
#3
J M Chen, C J Zhou, X L Ma, D D Guan, L Y Yang, P Yue, L P Gong
Objective: To detect TOP2A protein expression and gene copy number alterations, and to analyze related clinical and pathological implications in pediatric neuroblastic tumors (NT). Methods: Immunohistochemistry was used to detect TOP2A protein expression. Fluorescence in situ hybridization (FISH) was used to detect numerical aberrations of TOP2A. Results: TOP2A protein was expressed in 59.1%(52/88) of cases, which was associated with differentiation (P=0.006), Ki-67 index (P<0.01) and MKI (P=0.001). Twenty-eight cases (35...
November 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27781423/malignant-glioma-with-primitive-neuroectodermal-tumor-like-component-mg-pnet-novel-microarray-findings-in-a-pediatric-patient
#4
Jinglan Liu, Matthew P Keisling, Ayman Samkari, Gregory Halligan, Judy M Pascasio, Christos D Katsetos
Central nervous system (CNS) tumors exhibiting dual features of malignant glioma (MG) and primitive neuroectodermal tumor (PNET) are rare and diagnostically challenging. Previous studies have shown that MG-PNET carry MYCN or MYC gene amplifications within the PNET component concomitant with glioma-associated alterations, most commonly 10q loss, in both components [9]. Here we confirm and extend the profile of molecular genetic findings in a MG-PNET involving the left frontal lobe of a 12-year-old male. Histologically, the PNET-like component showed morphological features akin to anaplastic medulloblastoma highlighted by widespread immunoreactivity for βIII-tubulin (TUBB3) and nonphosphorylated neurofilament protein, and to a lesser degree, Neu-N, synaptophysin, and CD99, whereas the gliomatous component was demarcated by glial fibrillary acidic protein (GFAP) labeling...
October 26, 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27775567/a-proteogenomic-approach-to-understanding-myc-function-in-metastatic-medulloblastoma-tumors
#5
Jerome A Staal, Yanxin Pei, Brian R Rood
Brain tumors are the leading cause of cancer-related deaths in children, and medulloblastoma is the most prevalent malignant childhood/pediatric brain tumor. Providing effective treatment for these cancers, with minimal damage to the still-developing brain, remains one of the greatest challenges faced by clinicians. Understanding the diverse events driving tumor formation, maintenance, progression, and recurrence is necessary for identifying novel targeted therapeutics and improving survival of patients with this disease...
October 19, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27769870/braf-exon-15-mutations-in-pediatric-renal-stromal-tumors-prevalence-in-metanephric-stromal-tumors
#6
Lily Marsden, Lawrence J Jennings, Samantha Gadd, Min Yu, Elizabeth J Perlman, Mariana M Cajaiba
Metanephric stromal tumors are rare renal stromal tumors that predominantly affect children. They belong to the metanephric family of tumors along with metanephric adenofibroma and metanephric adenoma. The previous documentation of BRAF exon 15 mutations in 88% of metanephric adenomas and in isolated cases of metanephric adenofibroma prompted us to investigate the prevalence of these mutations in metanephric stromal tumors and in other pediatric renal stromal tumors. In this study, 17 metanephric stromal tumors, 22 congenital mesoblastic nephromas and 6 ossifying renal tumors of infancy were selected for BRAF exon 15 testing...
October 18, 2016: Human Pathology
https://www.readbyqxmd.com/read/27756164/biallelic-loss-of-cdkn2a-is-associated-with-poor-response-to-treatment-in-pediatric-acute-lymphoblastic-leukemia
#7
Marcin Braun, Agata Pastorczak, Wojciech Fendler, Joanna Madzio, Bartlomiej Tomasik, Joanna Taha, Marta Bielska, Lukasz Sedek, Tomasz Szczepanski, Michal Matysiak, Katarzyna Derwich, Monika Lejman, Jerzy Kowalczyk, Bernarda Kazanowska, Wanda Badowska, Jan Styczynski, Nina Irga-Jaworska, Joanna Trelinska, Beata Zalewska-Szewczyk, Filip Pierlejewski, Iwona Wlodarska, Wojciech Młynarski
The inactivation of tumor suppressor genes located within 9p21 locus (CDKN2A, CDKN2B) occurs in up to 30% of children with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but its independent prognostic significance remains controversial. In order to investigate the prognostic impact of deletions and promoter methylation within 9p21, 641 children with newly diagnosed BCP-ALL using methylation specific multiplex ligation-dependent probe amplification (MS-MLPA) were investigated. A total of 169 (26.4%) microdeletions in 9p21 were detected, of which 71 were homozygous...
October 18, 2016: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27742033/detection-of-haemophilus-influenzae-type-b-streptococcus-agalactiae-streptococcus-pneumoniae-and-neisseria-meningitidis-in%C3%A2-csf%C3%A2-specimens-of-children-suspicious-of%C3%A2-meningitis-in-ahvaz-iran
#8
Mansour Amin, Mozhgan Ghaderpanah, Tahereh Navidifar
Meningitis is a life-threatening infection associated with a high mortality and morbidity worldwide. Neisseria meningitidis, Haemophilus influenzae, and Streptococcus pneumoniae are the most prevalent infectious agents that cause bacterial meningitis (BM). The objective of this study was to determine the frequencies of these three bacteria using bacterial cultures and polymerase chain reaction (PCR). In our cross-sectional study, cerebrospinal fluid (CSF) specimens were obtained from 196 patients who were suspected of having BM and referred to the pediatric ward of Abuzar Hospital (Ahvaz, Iran)...
October 2016: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/27728805/n-myc-induces-an-ezh2-mediated-transcriptional-program-driving-neuroendocrine-prostate-cancer
#9
Etienne Dardenne, Himisha Beltran, Matteo Benelli, Kaitlyn Gayvert, Adeline Berger, Loredana Puca, Joanna Cyrta, Andrea Sboner, Zohal Noorzad, Theresa MacDonald, Cynthia Cheung, Ka Shing Yuen, Dong Gao, Yu Chen, Martin Eilers, Juan-Miguel Mosquera, Brian D Robinson, Olivier Elemento, Mark A Rubin, Francesca Demichelis, David S Rickman
The transition from castration-resistant prostate adenocarcinoma (CRPC) to neuroendocrine prostate cancer (NEPC) has emerged as an important mechanism of treatment resistance. NEPC is associated with overexpression and gene amplification of MYCN (encoding N-Myc). N-Myc is an established oncogene in several rare pediatric tumors, but its role in prostate cancer progression is not well established. Integrating a genetically engineered mouse model and human prostate cancer transcriptome data, we show that N-Myc overexpression leads to the development of poorly differentiated, invasive prostate cancer that is molecularly similar to human NEPC...
October 10, 2016: Cancer Cell
https://www.readbyqxmd.com/read/27718353/a-response-letter-to-the-mccreery-et-al-2016-article-stability-of-audiometric-thresholds-for-children-with-hearing-aids-applying-the-american-academy-of-audiology-pediatric-amplification-guideline-implications-for-safety
#10
https://www.readbyqxmd.com/read/27635948/smarcb1-ini1-involvement-in-pediatric-chordoma-a-mutational-and-immunohistochemical-analysis
#11
Manila Antonelli, Alessandro Raso, Samantha Mascelli, Marco Gessi, Paolo Nozza, Antonella Coli, Marina P Gardiman, Antonietta Arcella, Maura Massimino, Francesca R Buttarelli, Felice Giangaspero
Chordomas arise in the skull base and spine and usually occur in adults and are rare in the pediatric population. Cases of chordoma in pediatric age are often poorly differentiated, showing cytologic atypia, increased cellularity, and mitosis, and their aggressive behavior is associated with a high incidence of metastatic spread and a short patient survival. Recent studies have described loss of SMARCB1/INI1 protein in poorly differentiated chordomas associated not with point mutations but with SMARCB1/INI1 gene deletions instead...
September 15, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27610393/soluble-hla-g-and-hla-e-levels-in-bone-marrow-plasma-samples-are-related-to-disease-stage-in-neuroblastoma-patients
#12
Fabio Morandi, Sarah Pozzi, Barbara Carlini, Loredana Amoroso, Vito Pistoia, Maria Valeria Corrias
The role of nonclassical HLA-class Ib molecules HLA-G and HLA-E in the progression of Neuroblastoma (NB), the most common pediatric extracranial solid tumor, has been characterized in the last years. Since BM infiltration by NB cells is an adverse prognostic factor, we have here analyzed for the first time the concentration of soluble (s)HLA-G and HLA-E in bone marrow (BM) plasma samples from NB patients at diagnosis and healthy donors. sHLA-G and sHLA-E are present in BM plasma samples, and their levels were similar between NB patients and controls, thus suggesting that these molecules are physiologically released by resident or stromal BM cell populations...
2016: Journal of Immunology Research
https://www.readbyqxmd.com/read/27599694/transcript-signatures-that-predict-outcome-and-identify-targetable-pathways-in-mycn-amplified-neuroblastoma
#13
Robin M Hallett, Alex B K Seong, David R Kaplan, Meredith S Irwin
BACKGROUND: In the pediatric cancer neuroblastoma (NB), patients are stratified into low, intermediate or high-risk subsets based in part on MYCN amplification status. While MYCN amplification in general predicts unfavorable outcome, no clinical or genomic factors have been identified that predict outcome within these cohorts of high-risk patients. In particular, it is currently not possible at diagnosis to determine which high-risk neuroblastoma patients will ultimately fail upfront therapy...
November 2016: Molecular Oncology
https://www.readbyqxmd.com/read/27596083/-analysis-of-phenotypes-and-genotypes-in-66-patients-with-21-hydroxylase-deficiency-identified-by-neonatal-screening
#14
R F Wang, X F Gu, J Ye, L S Han, W J Qiu, H W Zhang, Y G Yu, Z W Gong
OBJECTIVE: To analyze the phenotype-genotype correlation of 21-hydroxylase deficiency (21-OHD) patients found by neonatal screening, and to investigate the characteristics of gene frequency of these patients. METHOD: Clinical and biochemical data of 66 21-OHD patients diagnosed by neonatal screening in department of pediatric endocrinology and genetics and neonatal screening center of Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from 2009 to 2014 were retrospectively analyzed...
September 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27585077/pediatric-unilateral-sensorineural-hearing-loss-implications-and-management
#15
James R Dornhoffer, John L Dornhoffer
PURPOSE OF REVIEW: The purpose of this review is to summarize current studies detailing the impact of unilateral sensorineural hearing loss in children and the most current modalities of treatment used in its management. RECENT FINDINGS: Current studies corroborate historic views on the impact of unilateral sensorineural hearing loss on patient wellbeing and academic success and stress the use of additional surveillance and studies to diagnose those patients that may pass standard screening practices and suffer from lack of prompt and proper care...
December 2016: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/27582545/characterizing-and-targeting-pdgfra-alterations-in-pediatric-high-grade-glioma
#16
Carl Koschmann, Daniel Zamler, Alan MacKay, Dan Robinson, Yi-Mi Wu, Robert Doherty, Bernard Marini, Dustin Tran, Hugh Garton, Karin Muraszko, Patricia Robertson, Marcia Leonard, Lili Zhao, Dale Bixby, Luke Peterson, Sandra Camelo-Piragua, Chris Jones, Rajen Mody, Pedro R Lowenstein, Maria G Castro
Pediatric high-grade glioma (HGG, WHO Grade III and IV) is a devastating brain tumor with a median survival of less than two years. PDGFRA is frequently mutated/ amplified in pediatric HGG, but the significance of this finding has not been fully characterized. We hypothesize that alterations of PDGFRA will promote distinct prognostic and treatment implications in pediatric HGG. In order to characterize the impact of PDGFR pathway alterations, we integrated genomic data from pediatric HGG patients (n=290) from multiple pediatric datasets and sequencing platforms...
August 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27582513/direct-comparison-of-alere%C3%A2-i-and-cobas%C3%A2-liat-influenza-a-and-b-tests-for-rapid-detection-of-influenza-virus-infection
#17
Frederick S Nolte, Lori Gauld, Susan B Barrett
We compared two rapid, point-of care, nucleic acid amplification tests for detection of influenza A and B viruses (Alere™ i, Alere and COBAS: ® Liat, Roche Diagnostics) with the influenza A and B virus test components of FilmArray® respiratory panel (BioFire Diagnostics) using 129 respiratory specimens collected in universal viral transport medium (80 influenza A and 16 influenza B virus positive) from both adult and pediatric patients. The sensitivities of the Alere test were 71.3% for influenza A and 93...
August 31, 2016: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/27576698/clinicopathological-characteristics-molecular-subgrouping-and-expression-of-mir-379-mir-656-cluster-c14mc-in-adult-medulloblastomas
#18
Kavneet Kaur, Aanchal Kakkar, Anupam Kumar, Suvendu Purkait, Supriya Mallick, Vaishali Suri, Mehar C Sharma, Pramod K Julka, Deepak Gupta, Ashish Suri, Chitra Sarkar
Medulloblastoma (MB) is a childhood tumor comprising four molecular subgroups: WNT, SHH, group 3 and group 4, with diagnostic and prognostic connotations. Very few studies are available on molecular subgrouping of adult MBs due to their rarity. Recently, loss of chromosome14q has been reported in SHH MBs, with downregulation of miR-379/miR-656 cluster (C14MC) in pediatric SHH MBs. Hence, the present study on adult MBs was undertaken to enumerate clinicopathological characteristics and molecular subgroups, and to analyze expression of C14MC and its transcriptional regulators, MEF2, JUN and ESRRG...
August 30, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27561926/genetic-screening-of-pediatric-cavernous-malformations
#19
Elisa Merello, Marco Pavanello, Alessandro Consales, Samantha Mascelli, Alessandro Raso, Andrea Accogli, Armando Cama, Capra Valeria, Patrizia De Marco
Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries...
October 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27508837/-op-7c-05-aortic-stiffness-and-pulse-wave-analysis-in-children-and-adolescents-with-marfan-syndrome
#20
A Grillo, A Pini, L Gao, G Trifirò, S Marelli, F Viecca, L Salvi, P Salvi, M Rovina, R Carretta, G Parati
OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation beginning in childhood. Aortic stiffness is increased in patients with MFS but data in pediatric age are lacking. Aim of this study was to evaluate aortic stiffness and pulse wave analysis in children and adolescents with MFS, compared to general pediatric population, and its association with aortic root diameters. DESIGN AND METHOD: Fifty-two children with MFS (age: 12...
September 2016: Journal of Hypertension
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