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https://www.readbyqxmd.com/read/29161262/the-value-of-confirmatory-testing-in-early-infant-hiv-diagnosis-programmes-in-south-africa-a-cost-effectiveness-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/29090521/single-cell-whole-exome-and-targeted-sequencing-in-npm1-flt3-positive-pediatric-acute-myeloid-leukemia
#9
Christiane Walter, Christian Pozzorini, Katarina Reinhardt, Robert Geffers, Zhenyu Xu, Dirk Reinhardt, Nils von Neuhoff, Helmut Hanenberg
BACKGROUND: The small portion of leukemic stem cells (LSCs) in acute myeloid leukemia (AML) present in children and adolescents is often masked by the high background of AML blasts and normal hematopoietic cells. The aim of the current study was to establish a simple workflow for reliable genetic analysis of single LSC-enriched blasts from pediatric patients. PROCEDURE: For three AMLs with mutations in nucleophosmin 1 and/or fms-like tyrosine kinase 3, we performed whole genome amplification on sorted single-cell DNA followed by whole exome sequencing (WES)...
November 1, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29081033/the-presence-of-alk-alterations-and-clinical-relevance-of-crizotinib-treatment-in-pediatric-solid-tumors
#10
Luca Felkai, Rita Bánusz, Ilona Kovalszky, Zoltán Sápi, Miklós Garami, Gergő Papp, Katalin Karászi, Edit Varga, Monika Csóka
Soft tissue sarcomas (STS) and neuroblastomas (NBL), are childhood malignancies still associated with poor prognoses despite the overall improvement in childhood tumor survival of the past decades. Anaplastic lymphoma kinase (ALK) inhibition is promising new strategy to improve the outcome of these pediatric tumors. Eighteen histologic samples of pediatric STS and 19 NBL patients were analyzed for ALK abnormalities using fluorescent in situ hybridization (FISH) with break-apart probes and immunohistochemistry (IHC)...
October 28, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29069074/non-invasive-monitoring-of-brain-edema-after-hypoxia-in-newborn-piglets
#11
Shadi N Malaeb, Meltem Izzetoglu, Jane McGowan, Maria Delivoria-Papadopoulos
BACKGROUND: Development of cerebral edema after brain injury carries a high risk for brain damage and death. The present study tests the ability of a non-invasive cerebral edema monitoring system that uses near infrared spectroscopy (NIRS) with water as the chromophore of interest to detect brain edema following hypoxia. METHODS: Ventilated piglets were exposed to hypoxia for 1 h, and then returned to normal oxygen levels for 4 h. A NIRS sensor was placed on the animal's head at baseline, and changes in light attenuation were converted to changes in H2O...
October 25, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29040002/fak-src-paxillin-system-expression-and-disease-outcome-in-human-neuroblastoma
#12
Panagiotis Kratimenos, Ioannis Koutroulis, Vasiliki Syriopoulou, Christina Michailidi, Maria Delivoria-Papadopoulos, Jerzy Klijanienko, Stamatios Theocharis
BACKGROUND: Neuroblastoma (NB) often presents with metastatic disease and poor survival. The need for new prognostic markers remains invaluable. The FAK-Src-Paxillin protein system is associated with aggressive phenotype in adult malignancies but is largely unexplored in pediatric NB. OBJECTIVE: To assess FAK-Src-Paxillin protein expression in human NB cell lines and clinical cytology material and to delineate its association with survival. DESIGN/METHODS: Western blot and immunohistochemistry were applied for FAK-Src-Paxillin expression in NB cell lines and 23 human cytology specimens, respectively...
October 17, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29026734/cytomegalovirus-infection-under-a-hybrid-strategy-in-pediatric-liver-transplantation-a-single-center-experience
#13
Ryung Kim, Dai Joung, Sunghee Lee, Insook Jeong, Seak Hee Oh, Jung-Man Namgoong, Dae Yeon Kim, Kyung Mo Kim
PURPOSE: To evaluate the outcomes of a hybrid prophylactic strategy to prevent cytomegalovirus (CMV) disease in pediatric liver transplantation (LT) patients. METHODS: CMV DNAemia was regularly monitored by quantitative nucleic acid amplification test (QNAT) and was quantified in all children. CMV infection and disease were defined according to the International Consensus Guidelines. The hybrid strategy against CMV infection consisted of universal 3-week prophylaxis and preemptive treatment of intravenous ganciclovir regardless of the recipient's serostatus...
September 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28992850/association-of-single-nucleotide-polymorphism-in-the-fkbp5-gene-with-response-to-steroids-in-pediatric-patients-with-primary-nephrotic-syndrome%C3%A2
#14
Ni Du, Fang Yang, Liangzhi Li, Xiaoxiao Liu, Liangzhong Sun, Sui Zhang, Xianhong He, Yuewu Tang, Jihong Shi, Chunqiu Liu, Xianxiang Zhang
AIM: This study aimed to assess the association of single-nucleotide polymorphism (SNP) of FKBP5 with response to steroids in children with primary nephrotic syndrome (NS). MATERIALS AND METHODS: A total of 66 primary NS patients (cases) and 68 healthy individuals (controls) were enrolled in this study. The FKBP5 polymorphism rs4713916 (T/C) was analyzed by polymerase chain reaction (PCR) and sequencing after amplification of regions that potentially contain the SNP...
October 10, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28990704/epithelioid-glioblastomas-stratify-into-established-diagnostic-subsets-upon-integrated-molecular-analysis
#15
Andrey Korshunov, Lukas Chavez, Tanvi Sharma, Marina Ryzhova, Daniel Schrimpf, Damian Stichel, David Capper, Dominik Sturm, Marcel Kool, Antje Habel, Bette K Kleinschmidt-DeMasters, Marc Rosenblum, Oksana Absalyamova, Andrey Golanov, Peter Lichter, Stefan M Pfister, David T W Jones, Arie Perry, Andreas von Deimling
Epithelioid glioblastoma (eGBM) is a newly defined and rare GBM variant in the current WHO 2016 classification. BRAF V600E mutation is overrepresented in these tumors and there is known some morphological overlap with anaplastic epithelioid PXA (ePXA). In order to further elucidate this diagnostic category, we molecularly characterized 64 pediatric and adult examples initially diagnosed as "eGBM". Tumors were analyzed using array based methylation and direct sequencing of the BRAF and TERT genes. Our results demonstrated considerable molecular and clinical heterogeneity among eGBM cohort...
October 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28975017/variegated-colors-of-pediatric-glioblastoma-multiforme-what-to-expect
#16
Vivek Immanuel, Pamela A Kingsley, Preety Negi, Roma Isaacs, Sarvpreet S Grewal
Malignant gliomas account for 35-45% of primary brain tumors; among these glioblastoma multiforme (GBM) is the most common adult brain tumor constituting approximately 85%. Its incidence is quite less in the pediatric population and treatment of these patients is particularly challenging. Exposure to ionizing radiation is the only environmental factor found to have any significant association with GBM. Several genetic alterations associated with GBM in adults have been well documented such as epidermal growth factor receptor amplification, overexpression of mouse double minute 2 homolog also known as E3 ubiquitin-protein ligase, Phosphatase and tensin homolog gene mutation, loss of heterozygosity of chromosome 10p and isocitrate dehydrogenase-1 mutation...
July 3, 2017: Rare Tumors
https://www.readbyqxmd.com/read/28971761/micrornas-in-neuroblastoma-biomarkers-with-therapeutic-potential
#17
Angela Galardi, Marta Colletti, Pietro Businaro, Concetta Quintarelli, Franco Locatelli, Angela Di Giannatale
BACKGROUND: Neuroblastoma is the most common extracranial solid tumor in infancy. The majority of children have a disseminated disease at diagnosis with bone marrow as the most common site of metastasis. Although several prognostic factors have been defined (i.e. age, stage, histology, recurrent genetic anomalies), the identification of non-invasive biomarkers for disease follow-up and therapy monitoring is indeed still a clinical need. Aberrant regulation of microRNAs (miRNAs) expression has been implicated in several malignancies...
October 3, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28960623/multimodal-molecular-analysis-of-astroblastoma-enables-reclassification-of-most-cases-into-more-specific-molecular-entities
#18
Matthew D Wood, Tarik Tihan, Arie Perry, Geeta Chacko, Clinton Turner, Cunfeng Pu, Christopher Payne, Alexander Yu, Serguei I Bannykh, David A Solomon
Astroblastoma is a rare and controversial glioma with variable clinical behavior. The diagnosis currently rests on histologic findings of a circumscribed glioma with astroblastomatous pseudorosettes and vascular hyalinization. Immunohistochemical studies have suggested different oncogenic drivers, such as BRAF p.V600E, but very few cases have been studied using genome-wide methodologies. Recent genomic profiling identified a subset of CNS embryonal tumors with astroblastoma-like morphology that harbored MN1 gene fusions, termed "CNS high-grade neuroepithelial tumors with MN1 alteration" (CNS-HGNET-MN1)...
September 28, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28902922/molecular-clustering-of-patients-with-diabetes-and-pulmonary-tuberculosis-a-systematic-review-and-meta-analysis
#19
REVIEW
Francles Blanco-Guillot, Guadalupe Delgado-Sánchez, Norma Mongua-Rodríguez, Pablo Cruz-Hervert, Leticia Ferreyra-Reyes, Elizabeth Ferreira-Guerrero, Mercedes Yanes-Lane, Rogelio Montero-Campos, Miriam Bobadilla-Del-Valle, Pedro Torres-González, Alfredo Ponce-de-León, José Sifuentes-Osornio, Lourdes Garcia-Garcia
INTRODUCTION: Many studies have explored the relationship between diabetes mellitus (DM) and tuberculosis (TB) demonstrating increased risk of TB among patients with DM and poor prognosis of patients suffering from the association of DM/TB. Owing to a paucity of studies addressing this question, it remains unclear whether patients with DM and TB are more likely than TB patients without DM to be grouped into molecular clusters defined according to the genotype of the infecting Mycobacterium tuberculosis bacillus...
2017: PloS One
https://www.readbyqxmd.com/read/28886309/the-correlation-between-pax5-deletion-and-patients-survival-in-iranian-children-with-precursor-b-cell-acute-lymphocytic-leukemia
#20
A Moafi, A Zojaji, R Salehi, S Najafi Dorcheh, S Rahgozar
Despite advances in treatment, children with acute lymphoblastic leukemia (ALL) still experience drug resistance and relapse. Several gene mutations are involved in the onset of this disease and resistance to therapy. The present study examines the incidence of IKZF1, CDKN2A/B, PAX5, EBF1, ETV6, BTG1, RB1, JAK2, and Xp22.33 gene deletions/duplications associated with pediatric ALL in Iran and investigates the possible effect of these mutations on drug resistance. Three-year disease-free survival (3DFS) was evaluated for children diagnosed with Philadelphia negative precursor-B-cell ALL hospitalized at Sayed-al-Shohada Hospital, Isfahan-Iran, from January 2009 until December 2012...
August 30, 2017: Cellular and Molecular Biology
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