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pediatric amplification

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
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
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, this 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 pre-treatment...
February 20, 2018: Journal of Molecular Diagnostics: JMD
Mohammad Mehdi Soltan Dallal, Sajjad Omidi, Masoumeh Douraghi, Mohammad Taghi Haghi Ashtiani, Mohammad Kazem Sharifi Yazdi, Arash Okazi
Introduction: Shigella spp. is a growing global health concern due to increasing multiple drug resistance, commonly resulting in therapeutic failure. Integrons are gene expression systems run by integrase genes. The aims of this study were detection of class I, II and III integrons and assessment of antimicrobial resistance in Shigella spp. isolated from acute pediatric diarrhea patients. Materials and methods: From January to December 2015, 16 Shigella spp. were isolated from 310 non-duplicative diarrheal stool samples in Children's Medical Center, Tehran, Iran...
2018: GMS Hygiene and Infection Control
Eleanor M O'Brien, Joanna L Selfe, Ana Sofia Martins, Zoë S Walters, Janet M Shipley
BACKGROUND: MYCN is amplified in small cell lung cancers and several pediatric tumors, including alveolar rhabdomyosarcomas and neuroblastomas. MYCN protein is known to play a key oncogenic role in both alveolar rhabdomyosarcomas and neuroblastomas. MYCN opposite strand (MYCNOS) is a gene located on the antisense strand to MYCN that encodes alternatively spliced transcripts, two of which (MYCNOS-01 and MYCNOS-02) are known to be expressed in neuroblastoma and small cell lung cancer with reciprocal regulation between MYCNOS-02 and MYCN reported for neuroblastomas...
February 21, 2018: BMC Cancer
Tingting Wang, Lingling Liu, Xuyong Chen, Yuqing Shen, Gaojian Lian, Nilay Shah, Andrew M Davidoff, Jun Yang, Ruoning Wang
Heightened aerobic glycolysis and glutaminolysis are characteristic metabolic phenotypes in cancer cells. Neuroblastoma (NBL), a devastating pediatric cancer, is featured by frequent genomic amplification of MYCN, a member of the Myc oncogene family that is primarily expressed in the early stage of embryonic development and required for neural crest development. Here we report that an enriched glutaminolysis gene signature is associated with MYCN amplification in children with NBL. The partial knockdown of MYCN suppresses glutaminolysis in NBL cells...
February 14, 2018: Cell Death & Disease
Maria Łastowska, Joanna Trubicka, Magdalena Niemira, Magdalena Paczkowska-Abdulsalam, Agnieszka Karkucińska-Więckowska, Magdalena Kaleta, Monika Drogosiewicz, Marta Perek-Polnik, Adam Krętowski, Bożena Cukrowska, Wiesława Grajkowska, Bożenna Dembowska-Bagińska, Ewa Matyja
Medulloblastoma, the most common malignant pediatric brain tumor, is a heterogeneous disease, with the existence of at least four molecular types: Wingless (WNT), Sonic Hedgehog (SHH), Group 3 and Group 4 tumors. The latter two groups, which can be identified by an application of multi-gene expression or methylation profiling, show sometimes ambiguous categorization and are still classified for diagnostic reason as non-SHH/non-WNT medulloblastomas in updated WHO 2016 classification. In order to better characterize non-SHH/non-WNT tumors, we applied the method based on the Nanostring nCounter Technology, using the 26 genes codeset in 68 uniformly treated medulloblastoma patients...
February 9, 2018: Journal of Neuro-oncology
Minu Singh, Prateek Bhatia, Amita Trehan, Neelam Varma, Manupdesh Singh Sachdeva, Deepak Bansal, Richa Jain, Shano Naseem
Copy number abnormalities (CNAs) and recurrent fusion transcripts are important genetic events which define and prognosticate B-Cell Acute Lymphoblastic Leukemia (B-ALL). We evaluated CNAs and fusion transcripts in 67 pediatric B-ALL cases and correlated the data with standard risk factors and early treatment outcome parameters. Common fusion transcripts ETV6-RUNX1, E2A-PBX, BCR-ABL1 and MLL-AF4 were examined by RT-PCR and noted in 15%, 15%, 13% and 1.4% of all cases respectively. CNAs in IKZF1, PAX5, EBF1, BTG1, RB1, CDKN2A/B and genes from PAR1 region viz...
February 2, 2018: Leukemia Research
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
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...
April 2018: American Journal of Surgical Pathology
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
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
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
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
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
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
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
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
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
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
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