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https://www.readbyqxmd.com/read/28338502/sellar-atypical-teratoid-rhabdoid-tumor-at-rt-a-clinicopathologically-and-genetically-distinct-variant-of-at-rt
#1
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
#2
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%, 100%), as well as with neutral faces. ERPs in early and later time windows (P100, N170, late positivity), as well as affective ratings (valence and arousal) for the faces, were recorded...
March 9, 2017: Social Neuroscience
https://www.readbyqxmd.com/read/28264674/epstein-barr-virus-and-cytomegalovirus-infections-and-their-clinical-relevance-in-egyptian-leukemic-pediatric-patients
#3
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
#4
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...
March 4, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28238446/ctns-molecular-genetics-profile-in-a-persian-nephropathic-cystinosis-population
#5
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
#6
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
#7
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]
https://www.readbyqxmd.com/read/28131730/distribution-of-capsular-types-and-drug-resistance-patterns-of-invasive-pediatric-streptococcus-pneumoniae-isolates-in-teheran-iran
#8
Hamidreza Houri, Sedigheh Rafiei Tabatabaei, Yasaman Saee, Fatemeh Fallah, Mohammad Rahbar, Abdollah Karimi
OBJECTIVES: To explore the serotype distribution and drug resistance patterns of invasive pneumococcal isolates from children under 5 years of age. METHODS: During a 32-month period, 585 clinical samples (including blood, cerebrospinal fluid (CSF), and synovial fluid) from children suspected of having meningitis, sepsis, pneumonia, or septic arthritis were analyzed using the BACTEC culture system. Positive cultures were examined using biochemical tests and lytA amplification for the identification of pneumococcal strains...
January 25, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28127161/blood-group-determination-using-dna-extracted-from-exfoliated-primary-teeth-at-various-time-durations-and-temperatures-a-pcr-study
#9
Reshma K Pai, Sham S Bhat, Afreen Salman, Sundeep Hegde
AIM: To determine polymerase chain reaction (PCR)-based blood group on tooth pulp obtained from teeth stored for 1 month, 6 months, and 1 year following extraction and to evaluate the stability of deoxyribonucleic acid (DNA) in primary tooth subjected to a temperature of 200°C ± 5°C for 15 minutes. MATERIALS AND METHODS: Dental pulp tissue was collected from 40 exfoliated primary teeth stored for various time durations and temperature and preserved at 4°C till DNA extraction was carried out...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28122874/is-follow-up-testing-with-filmarray-gastrointestinal-multiplex-pcr-panel-necessary
#10
Sholhui Park, Matthew M Hitchcock, Carlos A Gomez, Niaz Banaei
FilmArray GI Panel (BioFire Diagnostics, Salt Lake City, UT) is a simple, sample-to-answer, on-demand, multiplex, nucleic acid amplification test for syndromic diagnosis of infectious gastroenteritis. The aim of this study was to measure the yield of follow-up testing with FilmArray GI Panel within 4 weeks of an initial test. Consecutive adult and pediatric patients tested at an academic institution between August 2015 and June 2016 were included in this study. Of 145 follow-up tests in 106 unique patients with an initial negative result, 134 (92...
January 25, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28109477/clinical-outcomes-following-cochlear-implantation-in-children-with-inner-ear-anomalies
#11
Amal Isaiah, Daniel Lee, Felicity Lenes-Voit, Melissa Sweeney, Walter Kutz, Brandon Isaacson, Peter Roland, Kenneth H Lee
OBJECTIVE: A significant proportion of children with congenital hearing loss who are candidates for cochlear implants (CIs) may have inner ear malformations (IEMs). Surgical and speech outcomes following CI in these children have not been widely reported. METHODS: The charts of children who were evaluated for a CI between 1/1/1986 and 12/31/2014 at a university-based tertiary level pediatric cochlear implant center were reviewed. Principal inclusion criteria included (i) age 1-18 years, (ii) history of bilateral severe to profound sensorineural hearing loss, and (iii) limited benefit from binaural amplification...
February 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28095119/fecal-carriage-of-extended-spectrum-%C3%AE-lactamase-producing-enterobacteriaceae-strains-is-associated-with-worse-outcome-in-patients-hospitalized-in-the-pediatric-oncology-unit-of-beni-messous-hospital-in-algiers-algeria
#12
Chafiaa Medboua-Benbalagh, Abdelaziz Touati, Rachida Kermas, Alima Gharout-Sait, Lucien Brasme, Halima Mezhoud, Djamila Touati, Thomas Guillard, Christophe de Champs
OBJECTIVES: The current study aimed to investigate extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL-E) fecal carriage in children with different cancers admitted in the pediatric oncology unit of Beni-Messous Hospital (Algiers, Algeria). MATERIALS AND METHODS: Rectal swabs from children with cancer were sampled from February 2012 to May 2013 within 48 hours following their admission. After species identification and detection of ESBL production by double-disk synergy test (DD test), antibiotic susceptibility was determined by the standard disk diffusion method...
January 17, 2017: Microbial Drug Resistance: MDR: Mechanisms, Epidemiology, and Disease
https://www.readbyqxmd.com/read/28093275/reverse-transcription-loop-mediated-isothermal-amplification-for-rapid-detection-of-respiratory-syncytial-virus-directly-from-nasopharyngeal-swabs
#13
Johannes Hoos, Rebecca Marie Peters, Julia Tabatabai, Jürgen Grulich-Henn, Paul Schnitzler, Johannes Pfeil
Respiratory syncytial virus (RSV) is a common cause of lower respiratory tract infection in young infants and a major cause of nosocomial infection in pediatric care. Currently available RSV point-of-care tests are of limited sensitivity and relatively expensive. We developed and evaluated a novel RSV rapid test for use at point-of-care, based on reverse-transcription loop-mediated isothermal amplification (RT-LAMP) for direct testing of nasopharyngeal swab specimens. RT-LAMP can detect RSV within 30min, without the need for RNA extraction...
January 16, 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28072621/risk-stratification-of-pediatric-patients-with-neuroblastoma-using-volumetric-parameters-of-18f-fdg-and-18f-dopa-pet-ct
#14
Chia-Ju Liu, Meng-Yao Lu, Yen-Lin Liu, Chi-Lun Ko, Kuan-Yin Ko, Kai-Yuan Tzen, Hsiu-Hao Chang, Yung-Li Yang, Shiann-Tarng Jou, Wen-Ming Hsu, Ruoh-Fang Yen
PURPOSE: This study determined the prognostic value of volumetric parameters derived from pretreatment F-FDG and F-DOPA PET/CT of neuroblastoma and their correlation with clinical and histopathologic features. PATIENTS AND METHODS: A total of 25 children with neuroblastoma underwent pretreatment F-FDG and F-DOPA PET/CT within 4 weeks. The SUVmax of primary tumors on F-FDG and F-DOPA PET were recorded as SUVFDG and SUVDOPA, respectively. For volumetric parameters of primary tumors, 40% of SUVmax was used to generate volume of interest...
March 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28056863/growth-progression-and-chromosome-instability-of-neuroblastoma-a-new-scenario-of-tumorigenesis
#15
Gian Paolo Tonini
BACKGROUND: Neuroblastoma is a pediatric cancer with a low survival rate of patients with metastatic stage 4 disease. Tumor aggressiveness and progression have been associated with structural copy number variations (CNVs) that are observed in malignant cells. In contrast, localized Neuroblastomas, which are associated with a low number of structural CNVs but frequent numerical CNVs, are less aggressive, and patients have good outcomes. Finally, whole-genome and whole-exome sequencing of Neuroblastoma tissues have shown few damaging mutations in these tumors...
January 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28032389/bithalamic-gliomas-may-be-molecularly-distinct-from-their-unilateral-high-grade-counterparts
#16
Alberto Broniscer, Scott N Hwang, Omar Chamdine, Tong Lin, Stanley Pounds, Arzu Onar-Thomas, Lei Chi, Sheila Shurtleff, Sariah Allen, Amar Gajjar, Paul Northcott, Brent A Orr
Bithalamic gliomas are rare cancers diagnosed based on poorly defined radiologic criteria. Infiltrative astrocytomas account for most cases. While some previous studies reported dismal outcomes for patients with bithalamic gliomas irrespective of therapy and histologic grade, others described better prognoses even without anticancer therapy. Little is known about their molecular characteristics. We reviewed clinical, radiologic, and histologic features of patients with bithalamic gliomas treated at our institution over 15 years...
December 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/28028439/n-myc-overexpression-increases-cisplatin-resistance-in-neuroblastoma-via-deregulation-of-mitochondrial-dynamics
#17
Gabriella Casinelli, Jeff LaRosa, Manika Sharma, Edward Cherok, Swati Banerjee, Maria Branca, Lia Edmunds, Yudong Wang, Sunder Sims-Lucas, Luke Churley, Samantha Kelly, Ming Sun, Donna Stolz, J Anthony Graves
N-Myc is a global transcription factor that regulates the expression of genes involved in a number of essential cellular processes including: ribosome biogenesis, cell cycle and apoptosis. Upon deregulation, N-Myc can drive pathologic expression of many of these genes, which ultimately defines its oncogenic potential. Overexpression of N-Myc has been demonstrated to contribute to tumorigenesis, most notably for the pediatric tumor, neuroblastoma. Herein, we provide evidence that deregulated N-Myc alters the expression of proteins involved in mitochondrial dynamics...
2016: Cell Death Discovery
https://www.readbyqxmd.com/read/27992527/first-report-of-group-ctx-m-9-extended-spectrum-beta-lactamases-in-escherichia-coli-isolates-from-pediatric-patients-in-mexico
#18
Jocelin Merida-Vieyra, Agustin De Colsa, Yair Calderon Castañeda, Patricia Arzate Barbosa, Alejandra Aquino Andrade
The aim of this study was to identify the presence of group CTX-M-9 extended spectrum beta-lactamases (ESBL) in clinical Escherichia coli isolates from pediatric patients. A total of 404 non-repeated positive ESBL E. coli isolates were collected from documented clinical infections in pediatric patients over a 2-year period. The identification and susceptibility profiles were determined using an automated system. Isolates that suggested ESBL production based on their resistance profiles to third and fourth generation cephalosporin and monobactam were selected...
2016: PloS One
https://www.readbyqxmd.com/read/27989330/pain-amplification-syndrome-a-biopsychosocial-approach
#19
REVIEW
Lisa B Namerow, Emily C Kutner, Emily C Wakefield, Barbara R Rzepski, Robert A Sahl
Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, which is intensified by significant biological, psychological, and social contributors. Appropriate assessment and multimodal intervention of PAS are crucial to treatment success, including neurology and behavioral health collaborative treatment plans to restore patient function and reduce pain perception...
August 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#20
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
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