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https://www.readbyqxmd.com/read/28624713/aneuploidy-identification-in-pre-b-acute-lymphoblastic-leukemia-patients-at-diagnosis-by-multiplex-ligation-dependent-probe-amplification-mlpa
#1
A Vázquez-Reyes, L Bobadilla-Morales, C Barba-Barba, G Macías-Salcedo, G Serafín-Saucedo, M E Velázquez-Rivera, M C Almodóvar-Cuevas, A Márquez-Mora, H J Pimentel-Gutiérrez, C Ortega-de-la-Torre, R M Cruz-Osorio, S Nava-Gervasio, J Rivera-Vargas, F Sánchez-Zubieta, J R Corona-Rivera, A Corona-Rivera
Three-quarters of the patients with acute lymphoblastic leukemia (ALL), show numerical or structural chromosomal alterations, which are important factors in leukemogenesis. The use of Multiplex Ligation-dependent Probes Amplification (MLPA) has been mainly limited for searching copy number alterations of genes, suggesting that MLPA could detect numerical alterations in cancer. However, the use of MLPA in pediatrics to analyze subtelomeric sequences for aneuploidy detection has not been considered in previous studies...
June 1, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28602975/the-small-molecule-inhibitor-yk-4-279-disrupts-mitotic-progression-of-neuroblastoma-cells-overcomes-drug-resistance-and-synergizes-with-inhibitors-of-mitosis
#2
Madhu Kollareddy, Alice Sherrard, Ji Hyun Park, Marianna Szemes, Kelli Gallacher, Zsombor Melegh, Sebastian Oltean, Martin Michaelis, Jindrich Cinatl, Abderrahmane Kaidi, Karim Malik
Neuroblastoma is a biologically and clinically heterogeneous pediatric malignancy that includes a high-risk subset for which new therapeutic agents are urgently required. As well as MYCN amplification, activating point mutations of ALK and NRAS are associated with high-risk and relapsing neuroblastoma. As both ALK and RAS signal through the MEK/ERK pathway, we sought to evaluate two previously reported inhibitors of ETS-related transcription factors, which are transcriptional mediators of the Ras-MEK/ERK pathway in other cancers...
June 7, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28535875/utility-of-a-multidisciplinary-approach-to-pediatric-hearing-loss
#3
Karen Ann Hawley, Donald M Goldberg, Samantha Anne
INTRODUCTION: Because management of hearing loss (HL) often requires multiple specialists, a multidisciplinary clinic, Pediatric Hearing Management Clinic, (PHMC) was established to coordinate care for children with newly diagnosed HL. METHODS: Retrospective review of patients seen in PHMC from February 2009 to April 2010. RESULTS: Clinic information was available for 40/41 of the patients and was included in the study. 37/41 had confirmed HL...
May 12, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28525978/notch-ligand-delta-like-1-as-a-novel-molecular-target-in-childhood-neuroblastoma
#4
P Bettinsoli, G Ferrari-Toninelli, S A Bonini, C Prandelli, M Memo
BACKGROUND: Neuroblastoma is the most common extracranial solid malignancy in childhood, responsible for 15% of all pediatric cancer deaths. It is an heterogeneous disease that does not always respond to classical therapy; so the identification of new and specific molecular targets to improve existing therapy is needed. We have previously demonstrated the involvement of the Notch pathway in the onset and progression of neuroblastoma. In this study we further investigated the role of Notch signaling and identified Delta-like 1 (DLL1) as a novel molecular target in neuroblastoma cells with a high degree of MYCN amplification, which is a major oncogenic driver in neuroblastoma...
May 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28498184/viral-suppression-and-hiv-drug-resistance-at-6-months-among-women-in-malawi-s-option-b-program-results-from-the-pure-malawi-study
#5
Mina Hosseinipour, Julie A E Nelson, Clement Trapence, Sarah E Rutstein, Florence Kasende, Virginia Kayoyo, Blessings Kaunda-Khangamwa, Kara Compliment, Christopher Stanley, Fabian Cataldo, Monique van Lettow, Nora E Rosenberg, Hannock Tweya, Salem Gugsa, Veena Sampathkumar, Erik Schouten, Michael Eliya, Frank Chimbwandira, Levison Chiwaula, Atupele Kapito-Tembo, Sam Phiri
BACKGROUND: In 2011, Malawi launched Option B+, a program of universal antiretroviral therapy (ART) treatment for pregnant and lactating women to optimize maternal health and prevent pediatric HIV infection. For optimal outcomes, women need to achieve HIVRNA suppression. We report 6-month HIVRNA suppression and HIV drug resistance in the PURE study. METHODS: PURE study was a cluster-randomized controlled trial evaluating 3 strategies for promoting uptake and retention; arm 1: Standard of Care, arm 2: Facility Peer Support, and arm 3: Community Peer support...
June 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28459463/mycn-induces-neuroblastoma-in-primary-neural-crest-cells
#6
R R Olsen, J H Otero, J García-López, K Wallace, D Finkelstein, J E Rehg, Z Yin, Y-D Wang, K W Freeman
Neuroblastoma (NBL) is an embryonal cancer of the sympathetic nervous system (SNS), which causes 15% of pediatric cancer deaths. High-risk NBL is characterized by N-Myc amplification and segmental chromosomal gains and losses. Owing to limited disease models, the etiology of NBL is largely unknown, including both the cell of origin and the majority of oncogenic drivers. We have established a novel system for studying NBL based on the transformation of neural crest cells (NCCs), the progenitor cells of the SNS, isolated from mouse embryonic day 9...
May 1, 2017: Oncogene
https://www.readbyqxmd.com/read/28423089/phenotypic-and-genotypic-detection-of-candida-albicans-and-candida-dubliniensis-strains-isolated-from-oral-mucosa-of-aids-pediatric-patients
#7
Harisson Oliveira Livério, Luciana da Silva Ruiz, Roseli Santos de Freitas, Angela Nishikaku, Ana Clara de Souza, Claudete Rodrigues Paula, Carina Domaneschi
The aim of this study was to assess a collection of yeasts to verify the presence of Candida dubliniensis among strains isolated from the oral mucosa of AIDS pediatric patients which were initially characterized as Candida albicans by the traditional phenotypic method, as well as to evaluate the main phenotypic methods used in the discrimination between the two species and confirm the identification through genotypic techniques, i.e., DNA sequencing. Twenty-nine samples of C. albicans isolated from this population and kept in a fungi collection were evaluated and re-characterized...
April 13, 2017: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/28405174/predicting-the-occurrence-of-headache-and-back-pain-in-young-adults-by-biopsychological-characteristics-assessed-at-childhood-or-adolescence
#8
Birgit Kröner-Herwig, Anastasia Gorbunova, Jennifer Maas
The aim of the current study was to identify predictors of recurrent headache and back pain in young adults (aged 18-27 years) from data assessed in childhood or adolescence, i.e., 9 years before the final survey. Our interest was whether psychological characteristics contribute to the risk of pain prevalence in adult age when controlling for already empirically supported risk factors such as parental pain, pediatric pain and sex. The study was part of a five-wave epidemiological investigation of >5000 families with children aged between 7 and 14 years when addressed first...
2017: Adolescent Health, Medicine and Therapeutics
https://www.readbyqxmd.com/read/28401483/molecular-profiling-of-gene-copy-number-abnormalities-in-key-regulatory-genes-in-high-risk-b-lineage-acute-lymphoblastic-leukemia-frequency-and-their-association-with-clinicopathological-findings-in-indian-patients
#9
Prerana Bhandari, Firoz Ahmad, Bibhu Ranjan Das
Genes related to key cellular pathways are frequently altered in B cell ALL and are associated with poor survival especially in high-risk (HR) subgroups. We examined gene copy number abnormalities (CNA) in 101 Indian HR B cell ALL patients and their correlation with clinicopathological features by multiplex ligation-dependent probe amplification. Overall, CNA were detected in 59 (59%) cases, with 26, 10 and 23% of cases harboring 1, 2 or +3 CNA. CNA were more prevalent in BCR-ABL1 (60%), pediatric (64%) and high WCC (WBC count) (63%) patients...
May 2017: Medical Oncology
https://www.readbyqxmd.com/read/28401334/h3-idh-wild-type-pediatric-glioblastoma-is-comprised-of-molecularly-and-prognostically-distinct-subtypes-with-associated-oncogenic-drivers
#10
Andrey Korshunov, Daniel Schrimpf, Marina Ryzhova, Dominik Sturm, Lukas Chavez, Volker Hovestadt, Tanvi Sharma, Antje Habel, Anna Burford, Chris Jones, Olga Zheludkova, Ella Kumirova, Christof M Kramm, Andrey Golanov, David Capper, Andreas von Deimling, Stefan M Pfister, David T W Jones
Pediatric glioblastoma (pedGBM) is an extremely aggressive pediatric brain tumor, accounting for ~6% of all central nervous system neoplasms in children. Approximately half of pedGBM harbor recurrent somatic mutations in histone 3 variants or, infrequently, IDH1/2. The remaining subset of pedGBM is highly heterogeneous, and displays a variety of genomic and epigenetic features. In the current study, we aimed to further stratify an H3-/IDH-wild type (wt) pedGBM cohort assessed through genome-wide molecular profiling...
April 11, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28401018/otx2-expression-contributes-to-proliferation-and-progression-in-myc-amplified-medulloblastoma
#11
REVIEW
Yining Lu, Collin M Labak, Neha Jain, Ian J Purvis, Maheedhara R Guda, Sarah E Bach, Andrew J Tsung, Swapna Asuthkar, Kiran K Velpula
Medulloblastoma is one of the most prevalent pediatric brain malignancies, accounting for approximately 20% of all primary CNS tumors in children under the age of 19. OTX2 is the member of a highly conserved family of bicoid-like homeodomain transcription factors responsible for the regulation of cerebellar development and of current investigational interest in the tumorigenesis of medulloblastoma. Recent studies have revealed that Group 3 and Group 4 medulloblastomas show marked overexpression of OTX2 with a concurrent amplification of the MYC and MYCN oncogenes, respectively, correlating with anaplasticity and unfavorable patient outcomes...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28379918/cost-effectiveness-of-pediatric-cochlear-implantation-in-rural-china
#12
Jianxin Qiu, Chongxian Yu, Thathya V Ariyaratne, Chris Foteff, Zhangmin Ke, Yi Sun, Li Zhang, Feifei Qin, Georgina Sanderson
OBJECTIVES: To evaluate the cost utility of cochlear implantation (CI) for severe to profound sensorineural hearing loss (SNHL) among children from rural settings in P.R. China (China). RESEARCH DESIGN: A cost-utility analysis (CUA) was undertaken using data generated from a single-center substudy of the Cochlear Pediatric Implanted Recipient Observational Study (Cochlear P-IROS). The data were projected over a 20-year time horizon using a decision tree model. SETTING: The Chinese healthcare payer and patient perspectives were adopted...
July 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28367616/management-of-neuroblastoma-icmr-consensus-document
#13
REVIEW
Deepak Bansal, Sidharth Totadri, Girish Chinnaswamy, Sandeep Agarwala, Tushar Vora, Brijesh Arora, Maya Prasad, Gauri Kapoor, Venkatraman Radhakrishnan, Siddharth Laskar, Tanvir Kaur, G K Rath, Sameer Bakhshi
Neuroblastoma (NBL) is the most common extra-cranial solid tumor in childhood. High-risk NBL is considered challenging and has one of the least favourable outcomes amongst pediatric cancers. Primary tumor can arise anywhere along the sympathetic chain. Advanced disease at presentation is common. Diagnosis is established by tumor biopsy and elevated urinary catecholamines. Staging is performed using bone marrow and mIBG scan (FDG-PET/bone scan if mIBG unavailable or non-avid). Age, stage, histopathological grading, MYCN amplification and 11q aberration are important prognostic factors utilized in risk stratification...
April 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28338502/sellar-atypical-teratoid-rhabdoid-tumor-at-rt-a-clinicopathologically-and-genetically-distinct-variant-of-at-rt
#14
Satoshi Nakata, Sumihito Nobusawa, Takanori Hirose, Shinji Ito, Naoko Inoshita, Shunsuke Ichi, Vishwa J Amatya, Yukio Takeshima, Kazuhiko Sugiyama, Yukihiko Sonoda, Hironori Haga, Junko Hirato, Yoichi Nakazato, Hideaki Yokoo
Atypical teratoid/rhabdoid tumors (AT/RTs) are rare aggressive tumors of the central nervous system that predominantly affect infants. Although adult AT/RT are rare, accumulated cases have revealed adult-specific AT/RT in the sellar region. Twelve previously reported cases of sellar AT/RT exclusively occurred in adult females, suggesting biological differences from conventional infant AT/RT. We herein investigated a series of 6 sellar AT/RT for histopathologic features, the molecular status of the INI1/SMARCB1 gene, and clinical courses...
March 23, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28276275/facial-affect-processing-in-social-anxiety-disorder-with-early-onset-evidence-of-an-intensity-amplification-bias
#15
Daniela Schwab, Anne Schienle
The present event-related potential (ERP) study investigated for the first time whether children with early-onset social anxiety disorder (SAD) process affective facial expressions of varying intensities differently than non-anxious controls. Participants were 15 SAD patients and 15 non-anxious controls (mean age of 9 years). They were presented with schematic faces displaying anger and happiness at four intensity levels (25%, 50%, 75%, and 100%), as well as with neutral faces. ERPs in early and later time windows (P100, N170, late positivity [LP]), as well as affective ratings (valence and arousal) for the faces, were recorded...
March 21, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28264674/epstein-barr-virus-and-cytomegalovirus-infections-and-their-clinical-relevance-in-egyptian-leukemic-pediatric-patients
#16
Samah Aly Loutfy, Maha A Abo-Shadi, Mohamed Fawzy, Mohamed El-Wakil, Shimaa A Metwally, Manar M Moneer, Nasra F Abdel Fattah, Sara Kassem, Ahmed Elgebaly
BACKGROUND: Epstein-Barr virus (EBV) and human cytomegalovirus (CMV) infections are environmental risk factors affecting the outcome of cancer due to an impairment in the cell-mediated immunity. Therefore, this study aimed to detect the frequency of EBV and CMV DNA and their association with clinical characteristics and outcome of pediatric leukemic patients. METHODS: Samples of 50 immunocompromised pediatric leukemic patients and 30 apparently healthy children were subjected to the amplification of EBV DNA by one version of PCR targeting the Bam H1 W region of the genomic region of EBV, and the amplification of CMV DNA by targeting the CMV UL97 genomic region by a second round PCR...
March 6, 2017: Virology Journal
https://www.readbyqxmd.com/read/28260192/polyphyllin-d-a-steroidal-saponin-in-paris-polyphylla-induces-apoptosis-and-necroptosis-cell-death-of-neuroblastoma-cells
#17
Shunsuke Watanabe, Tatuya Suzuki, Fujio Hara, Toshihiro Yasui, Naoko Uga, Atuki Naoe
PURPOSE: Neuroblastoma is a refractory pediatric malignant solid tumor. The previous studies demonstrated that Polyphyllin D, the main constituent of Paris polyphylla, a traditional Chinese medicine, exerts an anti-tumor effect on many tumors. However, its effects against neuroblastomas are unclear. METHODS: We examined the anti-tumor effect of polyphyllin D in human neuroblastoma using IMR-32 and LA-N-2 cells, which exhibit MYCN gene amplification, and NB-69 cells, which do not exhibit MYCN gene amplification...
June 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28238446/ctns-molecular-genetics-profile-in-a-persian-nephropathic-cystinosis-population
#18
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A Gahl, Babak Behnam
PURPOSE: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. METHODS: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved polymerase chain reaction (PCR) amplification to determine the presence or absence of the 57-kb founder deletion in CTNS, followed by direct sequencing of the coding exons of CTNS...
February 23, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28223146/identification-of-a-novel-cosavirus-species-in-feces-of-children-and-its-relationship-with-acute-gastroenteritis-in-china
#19
Jie-Mei Yu, Yuan-Yun Ao, Li-Li Li, Zhao-Jun Duan
OBJECTIVES: To assess the prevalence of human cosavirus (HCosV) in China and to determine the association of a novel HCosV (Cosa-CHN) with acute gastroenteritis (AGE) . METHODS: A case-control study with 461 paired stool samples from diarrhea and healthy children was conducted. Real-time PCR and nested PCR were used to detect the HCosVs. Rapid-amplification of cDNA ends was employed to obtain the ends of the Cosa-CHN. RESULTS: Known HCosVs were detected in two control samples, while Cosa-CHN was detected in eight (1...
February 18, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28219127/-sanger-sequencing-for-the-diagnosis-of-spinal-muscular-atrophy-patients-with-survival-motor-neuron-gene-1-compound-heterozygous-mutation
#20
L Yang, Y Y Cao, Y J Qu, J L Bai, H Wang, Y W Jin, Y L Han, F Song
Objective: To detect the subtle variant of survival motor neuron gene 1(SMN1) by Sanger sequencing, and to assess the value of Sanger sequencing for the diagnosis of spinal muscular atrophy(SMA) with compound heterozygous mutation of SMN1. Methods: Fifty-two patients suspected SMA were recruited by the Capital Institute of Pediatrics from Jan.2014 to June.2016. PCR was used for amplifying exon7 of SMN1 and SMN2 in 52 patients. Natural different base peaks on the sequencing chromatogram in the SMN1 and SMN2 within the amplified segments were identified with Sanger DNA sequencing to detect the homozygous deletion or heterozygous deletion of SMN1...
February 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
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