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pediatric amplification

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
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
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
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
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
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
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
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
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...
August 31, 2016: Current Opinion in Otolaryngology & Head and Neck Surgery
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
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
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
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
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
Tasnim Chagtai, Christina Zill, Linda Dainese, Jenny Wegert, Suvi Savola, Sergey Popov, William Mifsud, Gordan Vujanić, Neil Sebire, Yves Le Bouc, Peter F Ambros, Leo Kager, Maureen J O'Sullivan, Annick Blaise, Christophe Bergeron, Linda Holmquist Mengelbier, David Gisselsson, Marcel Kool, Godelieve A M Tytgat, Marry M van den Heuvel-Eibrink, Norbert Graf, Harm van Tinteren, Aurore Coulomb, Manfred Gessler, Richard Dafydd Williams, Kathy Pritchard-Jones
PURPOSE: Wilms tumor (WT) is the most common pediatric renal tumor. Treatment planning under International Society of Paediatric Oncology (SIOP) protocols is based on staging and histologic assessment of response to preoperative chemotherapy. Despite high overall survival (OS), many relapses occur in patients without specific risk factors, and many successfully treated patients are exposed to treatments with significant risks of late effects. To investigate whether molecular biomarkers could improve risk stratification, we assessed 1q status and other potential copy number biomarkers in a large WT series...
September 10, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
Nuket Yurur Kutlay, Esra Pekpak, Sule Altıner, Talia Ileri, Arzu Nedime Vicdan, Handan Dinçaslan, Elif Unal Ince, Fatma Ajlan Tukun
The ETV6/RUNX1 fusion gene is a valuable prognostic marker that is frequently observed in B-cell precursor acute lymphoblastic leukemia (B-cell ALL). However, the clinical significance of copy number aberrations in these genes remains unclear. In this study, the effects of various aberrations inETV6 and RUNX1 gene copy number on disease prognosis were evaluated in 21 pediatric patients diagnosed with B-cell ALL with/without t(12;21). The prognostic significance of changes in gene copy number of ETV6 or RUNX1 in the presence or absence of hyperdiploidy, trisomy 21, and t(12;21) translocation were also evaluated...
September 2016: International Journal of Hematology
Xun Wang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Jie Li, Yadi Li, Yantao Wei, Xiaoling Liang, Xiangming Guo
PURPOSE: To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. METHODS: A total of 16 Chinese probands with Stickler syndrome were recruited, including nine with a family history of an autosomal dominant pattern and seven sporadic cases. All patients underwent full ocular and systemic examinations. Sanger sequencing was used to analyze all coding and adjacent regions of the COL2A1 and COL11A1 genes...
2016: Molecular Vision
Rania M Labib, Mohamed E A Abdelrahim, Enas Elnadi, Reem M Hesham, Dina Yassin
BACKGROUND: Rhabdomyosarcoma (RMS) is a small round blue cell malignant tumor, representing 7% of childhood malignancies, and over 50% of all soft tissue sarcomas. Cyclophosphamide (CPA) is a prodrug and is the mainstay of RMS treatment. CYP2B6 is a highly polymorphic drug metabolizing enzyme involved in CPA bioactivation. The influence of CYP2B6 single nucleotide polymorphisms (SNPs) on the survival of RMS is still unknown. METHODS: We genotyped CYP2B6SNPs rs2279343, rs3745274, and rs3211371 by restriction fragment polymorphism (RFLP) after PCR amplification in a cohort of 73 pediatric RMS patients treated with CPA-based first line treatment...
2016: PloS One
Avaniyapuram Kannan Murugan, Ebtesam Qasem, Hindi Al-Hindi, Yufei Shi, Ali S Alzahrani
BACKGROUND: BRAF is the most frequently mutated gene in differentiated thyroid cancer (DTC). Previous studies on DTC have well documented high rates of the BRAF (V600E) mutation in patients of mixed ages. Previous studies either included a mix of pediatric and adult patients or pediatric patients only. However, the prevalence of hotspot and non-hotspot BRAF mutations and its significance in pure adult DTCs is not yet well determined. In this study we determine the frequency of this classical BRAF mutation and other rare BRAF mutations in pure adult DTCs...
2016: Journal of Translational Medicine
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