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https://www.readbyqxmd.com/read/29758594/phox2b-is-a-reliable-immunomarker-in-distinguishing-peripheral-neuroblastic-tumors-from-cns-embryonal-tumors
#1
Sanda Alexandrescu, Vera Paulson, Adrian Dubuc, Azra Ligon, Hart G Lidov
INTRODUCTION: The PHOX2B gene regulates neuronal maturation in the brain stem nuclei associated with cardiorespiratory function, and in the autonomic sympathetic and enteric nervous system. PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumors, however no systematic evaluation of CNS embryonal tumors was included in the studies. We encountered two cases in which the differential diagnosis included neuroblastoma and CNS embryonal tumor, and we hypothesized that PHOX2B immunostain would be helpful establishing the diagnosis...
May 14, 2018: Histopathology
https://www.readbyqxmd.com/read/29755654/mycn-acts-as-a-direct-co-regulator-of-p53-in-mycn-amplified-neuroblastoma
#2
Saurabh Agarwal, Giorgio Milazzo, Kimal Rajapakshe, Ronald Bernardi, Zaowen Chen, Eveline Barberi, Jan Koster, Giovanni Perini, Cristian Coarfa, Jason M Shohet
The MYC oncogenes and p53 have opposing yet interrelated roles in normal development and tumorigenesis. How MYCN expression alters the biology and clinical responsiveness of pediatric neuroblastoma remains poorly defined. Neuroblastoma is p53 wild type at diagnosis and repression of p53 signaling is required for tumorigenesis. Here, we tested the hypothesis that MYCN amplification alters p53 transcriptional activity in neuroblastoma. Interestingly, we found that MYCN directly binds to the tetrameric form of p53 at its C-terminal domain, and this interaction is independent of MYCN/MAX heterodimer formation...
April 17, 2018: Oncotarget
https://www.readbyqxmd.com/read/29733508/fast-rapid-determinations-of-antibiotic-susceptibility-phenotypes-using-label-free-cytometry
#3
Tzu-Hsueh Huang, Yih-Ling Tzeng, Robert M Dickson
Sepsis, a life-threatening immune response to blood infections (bacteremia), has a ∼30% mortality rate and is the 10th leading cause of US hospital deaths. The typical bacterial loads in adult septic patients are ≤100 bacterial cells (colony forming units, CFU) per ml blood, while pediatric patients exhibit only ∼1000 CFU/ml. Due to the low numbers, bacteria must be propagated through ∼24-hours blood cultures to generate sufficient CFUs for diagnosis and further analyses. Herein, we demonstrate that, unlike other rapid post-blood culture antibiotic susceptibility tests (ASTs), our phenotypic approach can drastically accelerate ASTs for the most common sepsis-causing gram-negative pathogens by circumventing long blood culture-based amplification...
May 7, 2018: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/29728520/-fgfr1-actionable-mutations-molecular-specificities-and-outcome-of-adult-midline-gliomas
#4
Alberto Picca, Giulia Berzero, Franck Bielle, Mehdi Touat, Julien Savatovsky, Marc Polivka, Elena Trisolini, Sheida Meunier, Yohann Schmitt, Ahmed Idbaih, Khe Hoang-Xuan, Jean-Yves Delattre, Karima Mokhtari, Anna Luisa Di Stefano, Marc Sanson
OBJECTIVE: To characterize the prevalence and prognostic significance of major driver molecular alterations in adult midline diffuse gliomas (MLG). METHODS: Adults with histologically proven MLG diagnosed between 1996 and 2017 were identified from our tumor bank, systematically reviewed, and reclassified according to WHO 2016. Targeted sequencing was performed, including determination of H3F3A , HIST1H3B , TERTp , IDH1/2 , FGFR1 , p16/CDKN2A , and EGFR status. RESULTS: A total of 116 adult patients (M/F 71/45, median age 46...
May 4, 2018: Neurology
https://www.readbyqxmd.com/read/29709714/molecular-analyses-in-the-diagnosis-and-prediction-of-prognosis-in-non-gist-soft-tissue-sarcomas-a-systematic-review-and-meta-analysis
#5
REVIEW
Rita A Kandel, Xiaomei Yao, Brendan C Dickson, Michelle Ghert, Snezana Popovic, Bibianna M Purgina, Shailendra Verma, Joel Werier
BACKGROUND: The molecular pathogenesis of many forms of soft tissue sarcomas (STS) have been rigorously characterized in the medical literature, which may be particularly important for the diagnosis and prediction of prognosis in STS. METHODS: Electronic databases (2005 to October 2016) were searched. Gastrointestinal stromal tumor and pediatric sarcomas were excluded. The eligible individual study's risk of bias and the quality of aggregate evidence were assessed...
April 22, 2018: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/29695942/genotype-phenotype-correlation-among-beta-thalassemia-and-beta-thalassemia-hbe-disease-in-thai-children-predictable-clinical-spectrum-using-genotypic-analysis
#6
Chanchai Traivaree, Chalinee Monsereenusorn, Piya Rujkijyanont, Warakorn Prasertsin, Boonchai Boonyawat
Introduction: Beta-thalassemia is a group of inherited hemolytic anemias and one of the most common genetic disorders in Thailand. The clinical spectrum of beta-thalassemia disease ranges from mild to severe clinical symptoms including mild beta-thalassemia intermedia (TI) and severe beta-thalassemia major (TM). Objective: This study aimed to determine the correlation between beta-globin gene ( HBB ) mutations and their phenotypic manifestations by evaluating patients' clinical characteristics, transfusion requirements, growth and hematologic parameters, and hemoglobin typing among pediatric patients treated at Phramongkutklao Hospital...
2018: Journal of Blood Medicine
https://www.readbyqxmd.com/read/29691679/the-impact-of-next-generation-sequencing-on-the-diagnosis-of-pediatric-onset-hereditary-spastic-paraplegias-new-genotype-phenotype-correlations-for-rare-hsp-related-genes
#7
Lorena Travaglini, Chiara Aiello, Fabrizia Stregapede, Adele D'Amico, Viola Alesi, Andrea Ciolfi, Alessandro Bruselles, Michela Catteruccia, Simone Pizzi, Ginevra Zanni, Sara Loddo, Sabina Barresi, Gessica Vasco, Marco Tartaglia, Enrico Bertini, Francesco Nicita
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients showed that, by means of current technologies, the percentage of genetically solved cases is close to 50%. Notably, the percentage of molecularly confirmed diagnoses decreases significantly in sporadic patients. To describe our diagnostic molecular genetic approach on patients with pediatric-onset pure and complex HSP, 47 subjects with HSP underwent molecular screening of 113 known and candidate disease genes by targeted capture and massively parallel sequencing...
April 24, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29691299/undifferentiated-sarcomas-in-children-harbor-clinically-relevant-oncogenic-fusions-and-gene-copy-number-alterations-a-report-from-the-children-s-oncology-group
#8
Theodore W Laetsch, Angshumoy Roy, Lin Xu, Jennifer O Black, Cheryl M Coffin, Yueh-Yun Chi, Jing Tian, Sheri L Spunt, Douglas S Hawkins, Julia A Bridge, D Williams Parsons, Stephen X Skapek
PURPOSE: A comprehensive analysis of the genomics of undifferentiated sarcomas (UDS) is lacking.  We analyzed copy number alterations and fusion status in patients with UDS prospectively treated on Children's Oncology Group protocol ARST0332. EXPERIMENTAL DESIGN: Copy number alterations were assessed by Oncoscan FFPE Express on 32 UDS. Whole-exome and transcriptome libraries from 8 tumors with sufficient archived material were sequenced on HiSeq (2x100 bp). Targeted RNA-sequencing using Archer chemistry was performed on two additional cases...
April 24, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29664721/effect-of-adaptive-compression-and-fast-acting-wdrc-strategies-on-sentence-recognition-in-noise-in-mandarin-speaking-pediatric-hearing-aid-users
#9
Haihong Liu, Yuanhu Liu, Ying Li, Xin Jin, Jing Li, Yi Zhou, Wentong Ge, Xin Ni
BACKGROUND: Wide dynamic range compression (WDRC) has been widely used in hearing aid technology. However, several reports indicate that WDRC may improve audibility at the expense of speech intelligibility. As such, a modified amplification compression scheme, named adaptive compression, was developed. However, the effect of compression strategies on speech perception in pediatric hearing aid users has not been clearly reported. PURPOSE: The purpose of the present study was to investigate the effect of adaptive compression and fast-acting WDRC processing strategies on sentence recognition in noise with Mandarin, pediatric hearing aid users...
April 2018: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/29622677/heparan-sulfate-antagonism-alters-bone-morphogenetic-protein-signaling-and-receptor-dynamics-suggesting-a-mechanism-in-hereditary-multiple-exostoses
#10
Christina Mundy, Evan Yang, Hajime Takano, Paul C Billings, Maurizio Pacifici
Hereditary Multiple Exostoses (HME) is a pediatric disorder caused by heparan sulfate (HS) deficiency and is characterized by growth plate-associated osteochondromas. Previously, we found that osteochondroma formation in mouse models is preceded by ectopic bone morphogenetic protein (BMP) signaling in the perichondrium, but the mechanistic relationships between BMP signaling and HS deficiency remain unclear. Therefore, we used an HS antagonist (Surfen) to investigate the effects of this HS interference on BMP signaling, ligand availability, cell surface BMP receptor (BMPR) dynamics and BMPR interactions in Ad-293 and C3H/10T1/2 cells...
April 5, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29615459/genetic-analysis-of-779-advanced-differentiated-and-anaplastic-thyroid-cancers
#11
Nikita Pozdeyev, Laurie Gay, Ethan S Sokol, Ryan J Hartmaier, Kelsi E Deaver, Stephanie N Davis, Jena D French, Pierre Vanden Borre, Daniel V LaBarbera, Aik-Choon Tan, Rebecca E Schweppe, Lauren Fishbein, Jeffrey S Ross, Bryan R Haugen, Daniel W Bowles
PURPOSE: To define the genetic landscape of advanced differentiated and anaplastic thyroid cancer and identify genetic alterations of potential diagnostic, prognostic and therapeutic significance. EXPERIMENTAL DESIGN: The genetic profiles of 583 advanced differentiated and 196 anaplastic thyroid cancers (ATC) generated with targeted next-generation sequencing cancer-associated gene panels MSK-IMPACT and FoundationOne were analyzed. RESULTS: ATC had more genetic alterations per tumor, and pediatric papillary thyroid cancer had fewer genetic alterations per tumor when compared to other thyroid cancer types...
April 3, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29615337/immunohistochemical-and-molecular-genetic-study-on-epithelioid-glioblastoma-series-of-seven-cases-with-review-of-literature
#12
Gaurav Khanna, Pankaj Pathak, Vaishali Suri, Mehar Chand Sharma, Sujata Chaturvedi, Arvind Ahuja, M Bhardwaj, Ajay Garg, Chitra Sarkar, Rajeev Sharma
Epithelioid glioblastoma (e-gbm) is a recently described variant of glioblastoma (GBM) which is associated with short survival and now added as a provisional entity to WHO 2016 classification of CNStumors. About half of these tumors show characteristic BRAF-V600E mutation. However, unlike conventional GBMs, e-gbm lack specific diagnostic and prognostic markers. Hence, we aimed to molecularly characterize these tumors. An extensive review of literature was performed.In a multi-institutional effort, all the cases of glioblastoma of year 2017 were reviewed...
March 22, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29610116/network-modeling-of-microrna-mrna-interactions-in-neuroblastoma-tumorigenesis-identifies-mir-204-as-a-direct-inhibitor-of-mycn
#13
Chi Yan Ooi, Daniel R Carter, Bing Liu, Chelsea Mayoh, Anneleen Beckers, Amit Lalwani, Zsuzsanna Nagy, Sara De Brouwer, Bieke Decaesteker, Tzong-Tyng Hung, Murray D Norris, Michelle Haber, Tao Liu, Katleen De Preter, Frank Speleman, Belamy B Cheung, Glenn M Marshall
Neuroblastoma is a pediatric cancer of the sympathetic nervous system where MYCN amplification is a key indicator of poor prognosis. However, mechanisms by which MYCN promotes neuroblastoma tumorigenesis are not fully understood. In this study, we analyzed global miRNA and mRNA expression profiles of tissues at different stages of tumorigenesis from TH-MYCN transgenic mice, a model of MYCN-driven neuroblastoma. Based on a Bayesian learning network model in which we compared pre-tumor ganglia from TH-MYCN+/+ mice to age-matched wild-type controls, we devised a predicted miRNA-mRNA interaction network...
April 2, 2018: Cancer Research
https://www.readbyqxmd.com/read/29605138/equipment-free-nucleic-acid-extraction-and-amplification-on-a-simple-paper-disc-for-point-of-care-diagnosis-of-rotavirus-a
#14
Xin Ye, Jin Xu, Lijuan Lu, Xinxin Li, Xueen Fang, Jilie Kong
The use of paper-based methods for clinical diagnostics is a rapidly expanding research topic attracting a great deal of interest. Some groups have attempted to realize an integrated nucleic acid test on a single microfluidic paper chip, including extraction, amplification, and readout functions. However, these studies were not able to overcome complex modification and fabrication requirements, long turn-around times, or the need for sophisticated equipment like pumps, thermal cyclers, or centrifuges. Here, we report an extremely simple paper-based test for the point-of-care diagnosis of rotavirus A, one of the most common pathogens that causes pediatric gastroenteritis...
August 14, 2018: Analytica Chimica Acta
https://www.readbyqxmd.com/read/29575541/simultaneous-detection-of-abl1-mutation-and-ikzf1-deletion-in-philadelphia-chromosome-positive-acute-lymphoblastic-leukemia-using-a-customized-target-enrichment-system-panel
#15
M Aoe, H Ishida, T Matsubara, S Karakawa, H Kawaguchi, K Fujiwara, K Kanamitsu, K Washio, K Okada, M Shibakura, A Shimada
INTRODUCTION: Recent clinical outcomes of pediatric Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) vastly improved owing to tyrosine kinase inhibitor (TKI). However, the genetic status would be different in each case with ABL1 gene mutation or copy number variants (CNVs) such as IKZF1 deletion. In particular, the TKI resistant clone with ABL1 kinase mutation remains problematic. The comprehensive assessment of genetic status including mutation, insertion and deletion (indel) and CNVs is necessary...
March 25, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29574715/treatment-and-outcome-of-adult-onset-neuroblastoma
#16
Maya Suzuki, Brian H Kushner, Kim Kramer, Ellen M Basu, Stephen S Roberts, William J Hammond, Michael P LaQuaglia, Suzanne L Wolden, Nai-Kong V Cheung, Shakeel Modak
Adult-onset neuroblastoma is rare and little is known about its biology and clinical course. There is no established therapy for adult-onset neuroblastoma. Anti-GD2 immunotherapy is now standard therapy in children with high-risk neuroblastoma; however, its use has not been reported in adults. Forty-four adults (18-71 years old) diagnosed with neuroblastoma between 1979 and 2015 were treated at Memorial Sloan Kettering Cancer Center. Five, 1, 5 and 33 patients had INSS stage 1, 2, 3 and 4 diseases, respectively...
March 25, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29569515/prevalence-of-salivary-human-herpesviruses-in-pediatric-multiple-sclerosis-cases-and-controls
#17
Emily C Leibovitch, Cheng-Te Major Lin, Bridgette J Billioux, Jennifer Graves, Emmanuelle Waubant, Steven Jacobson
BACKGROUND: Multiple sclerosis (MS) is a multifactorial disease of unknown origin. The current paradigm is that disease develops in genetically susceptible individuals, influenced by environmental factors. Epstein-Barr virus (EBV) and human herpesvirus 6 (HHV-6) have particularly strong associations with the disease. Both viruses are typically acquired during childhood, decades before MS presents. However, in patients with pediatric MS, the temporal window between viral acquisition and disease onset is shortened, which may provide insights into the association of herpesviruses with MS...
March 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/29558475/molecular-epidemiology-and-drug-resistant-mechanism-in-carbapenem-resistant-klebsiella-pneumoniae-isolated-from-pediatric-patients-in-shanghai-china
#18
Xingyu Zhang, Di Chen, Guifeng Xu, Weichun Huang, Xing Wang
Infection by carbapenem-resistant Klebsiella pneumoniae (CR-KP) is a public health challenge worldwide, in particular among children, which was associated with high morbidity and mortality rates. There was limited data in pediatric populations, thus this study aimed to investigate molecular epidemiology and drug resistant mechanism of CR-KP strains from pediatric patients in Shanghai, China. A total of 41 clinical CR-KP isolates from sputum, urine, blood or drainage fluid were collected between July 2014 and May 2015 in Shanghai Children's Medical Center...
2018: PloS One
https://www.readbyqxmd.com/read/29523810/latent-class-modeling-to-compare-testing-platforms-for-detection-of-antibodies-against-the-chlamydia-trachomatis-antigen-pgp3
#19
Ryan E Wiegand, Gretchen Cooley, Brook Goodhew, Natalie Banniettis, Stephan Kohlhoff, Sarah Gwyn, Diana L Martin
Latent class modeling can be used to combine the results of multiple tests to compare the sensitivity and specificity of those tests in the absence of a gold standard. Seroepidemiology for chlamydia infection may be useful for determining the cumulative risk of infection within a population. Initial studies using the Chlamydia trachomatis immunodominant antigen Pgp3 have shown utility for seroepidemiology of sexually transmitted chlamydia and the eye disease trachoma. We present our latent class modeling results for comparison of antibody data obtained from three different Pgp3-based platforms - multiplex bead array, ELISA, and lateral flow assay...
March 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29474984/chimerism-analysis-in-the-pediatric-setting-direct-pcr-from-bone-marrow-whole-blood-and-cell-fractions
#20
Susanne Kricke, Lana Mhaldien, Rozendo Fernandes, Charizel Villanueva, Alistair Shaw, Paul Veys, Stuart Adams
Certain blood components and anticoagulants interfere with the PCR process and subsequent analysis. Here we demonstrate that reliable test results can be obtained for chimerism analysis despite omitting a DNA-extraction step and performing PCR and fragment analysis directly on bone marrow, whole blood, and individual cell fractions. For chimerism analysis, direct-tissue PCR is possible with the use of a robust, commercially available PCR mix containing a DNA polymerase capable of DNA amplification directly from the sample without the need for pretreatment...
May 2018: Journal of Molecular Diagnostics: JMD
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