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journal of pediatrics

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https://www.readbyqxmd.com/read/28722703/deep-intronic-hotspot-variant-unraveling-rhabdoid-tumor-predisposition-syndrome-in-two-patients-with-atypical-teratoid-and-rhabdoid-tumor
#1
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, Stéphanie Puget, Christelle Dufour, Pascale Schneider, Annie Laquerrière, Thierry Frebourg, Damien Bodet, Emmanuèle Lechapt-Zalcman, Gaëlle Pierron, Olivier Delattre, Pascale Varlet, Franck Bourdeaut
About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis therefore keeps a crucial place in the diagnosis of RT, and genetic counseling should be systematically recommended. However, immunohistochemistry has progressively replaced molecular tools to assess the status of SMARCB1 in tumors; the necessity of analyzing SMARCB1 status in the tumor may thus be less considered by neuropathologists and pediatric neuro-oncologists. In the present manuscript as aforementioned, we report on two patients with bifocal RT in the first month of life and in whom no germline variant was initially found in the SMARCB1 coding sequence...
July 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28719598/the-predictive-value-of-abcb1-abcg2-cyp3a4-5-and-cyp2d6-polymorphisms-for-risperidone-and-aripiprazole-plasma-concentrations-and-the-occurrence-of-adverse-drug-reactions
#2
C Rafaniello, M Sessa, F F Bernardi, M Pozzi, S Cheli, D Cattaneo, S Baldelli, M Molteni, R Bernardini, F Rossi, E Clementi, C Bravaccio, S Radice, A Capuano
We investigated in ninety Caucasian pediatric patients the impact of the main polymorphisms occurring in CYP3A, CYP2D6, ABCB1 and ABCG2 genes on second-generation antipsychotics plasma concentrations, and their association with the occurrence of adverse drug reactions. Patients with the CA/AA ABCG2 genotype had a statistically significant lower risperidone plasma concentration/dose ratio (Ct/ds) (P-value: 0.007) and an higher estimated marginal probability of developing metabolism and nutrition disorders as compared to the ABCG2 c...
July 18, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28715976/astrovirus-biology-and-pathogenesis
#3
Valerie Cortez, Victoria A Meliopoulos, Erik A Karlsson, Virginia Hargest, Cydney Johnson, Stacey Schultz-Cherry
Astroviruses are nonenveloped, positive-sense single-stranded RNA viruses that cause gastrointestinal illness. Although a leading cause of pediatric diarrhea, human astroviruses are among the least characterized enteric RNA viruses. However, by using in vitro methods and animal models to characterize virus-host interactions, researchers have discovered several important properties of astroviruses, including the ability of astrovirus capsid to act as an enterotoxin, disrupting the gut epithelial barrier. Improved animal models are needed to study this phenomenon, along with the pathogenesis of astroviruses, particularly in those strains that can cause extraintestinal disease...
July 17, 2017: Annual Review of Virology
https://www.readbyqxmd.com/read/28715915/the-uses-of-outcome-measures-within-multidisciplinary-early-childhood-intervention-services-a-systematic-review
#4
Samuel Calder, Roslyn Ward, Megan Jones, Jenelle Johnston, Mary Claessen
Purpose of the article: To review the use of outcome measures, across the domains of activity, participation, and environment, within multidisciplinary early childhood intervention services. MATERIALS AND METHODS: A systematic literature search was undertaken that included four electronic databases: Medline, CINAHL, EMBASE, and the Cochrane Library and Cochrane Database of Systematic Review. Inclusion criteria were age 0-24 months, having or at risk of a developmental disability, in receipt of multidisciplinary early childhood intervention services, and included outcome measures across all domains of the International Classification of Functioning-Child & Youth (ICF-CY)...
July 18, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28714340/statement-of-redundant-publication
#5
(no author information available yet)
For Prathanee B, Thinkhamrop B, Dechongkit S. Factors Associated With Specific Language Impairment and Later Language Development During Early Life: A Literature Review. Clin Pediatr. 2007;46:22-29. This statement has been added based on determining significant overlap with the following article, published earlier, with an authorship including one of the co-authors, Bandit Thinkhamrop: Chaimay B, Thinkhamrop B, Thinkhamrop J. Risk Factors Associated with Language Development Problems in Childhood - A Literature Review...
July 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28710227/advancing-concussion-assessment-in-pediatrics-a-cap-a-prospective-concurrent-cohort-longitudinal-study-of-mild-traumatic-brain-injury-in-children-protocol-study
#6
Keith Owen Yeates, Miriam Beauchamp, William Craig, Quynh Doan, Roger Zemek, Bruce Bjornson, Jocelyn Gravel, Angelo Mikrogianakis, Bradley Goodyear, Nishard Abdeen, Christian Beaulieu, Mathieu Dehaes, Sylvain Deschenes, Ashley Harris, Catherine Lebel, Ryan Lamont, Tyler Williamson, Karen Maria Barlow, Francois Bernier, Brian L Brooks, Carolyn Emery, Stephen B Freedman, Kristina Kowalski, Kelly Mrklas, Lianne Tomfohr-Madsen, Kathryn J Schneider
INTRODUCTION: Paediatric mild traumatic brain injury (mTBI) is a public health burden. Clinicians urgently need evidence-based guidance to manage mTBI, but gold standards for diagnosing and predicting the outcomes of mTBI are lacking. The objective of the Advancing Concussion Assessment in Pediatrics (A-CAP) study is to assess a broad pool of neurobiological and psychosocial markers to examine associations with postinjury outcomes in a large sample of children with either mTBI or orthopaedic injury (OI), with the goal of improving the diagnosis and prognostication of outcomes of paediatric mTBI...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28707045/management-of-extraocular-infections
#7
Srinivasan Muthiah, Naveen Radhakrishnan
Extraocular infection is a frequently encountered problem in children including neonates and infants. Prompt recognition of the extraocular disease and management at first contact reduces the ocular morbidity and visual impairment. Delay in administering appropriate therapy and referral to an eye care personnel may result in blindness; sometimes bilateral, due to severe ophthalmia neonatorum. This review is mainly aimed at offering basic, brief information about common extraocular infections prevalent among infants and children living in developing countries as a ready reference to practising pediatricians and neonatologists...
July 14, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28698351/subdissociative-intranasal-ketamine-plus-standard-pain-therapy-versus-standard-pain-therapy-in-the-treatment-of-paediatric-sickle-cell-disease-vaso-occlusive-crises-in-resource-limited-settings-study-protocol-for-a-randomised-controlled-trial
#8
James R Young, Hendry Robert Sawe, Juma A Mfinanga, Ernest Nshom, Ethan Helm, Charity G Moore, Michael S Runyon, Stacy L Reynolds
INTRODUCTION: Pediatric sickle cell disease, highly prevalent in sub-Saharan Africa, carries great morbidity and mortality risk. Limited resources and monitoring make management of acute vaso-occlusive crises challenging. This study aims to evaluate the efficacy and safety of subdissociative intranasal ketamine as a cheap, readily available and easily administered adjunct to standard pain therapy. We hypothesise that subdissociative, intranasal ketamine may significantly augment current approaches to pain management in resource-limited settings in a safe and cost-effective manner...
July 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/28696419/associations-between-the-c677t-and-a1298c-polymorphisms-of-mthfr-and-the-toxicity-of-methotrexate-in-childhood-malignancies-a-meta-analysis
#9
C Zhu, Y W Liu, S Z Wang, X L Li, X L Nie, X T Yu, L B Zhao, X L Wang
As a common chemotherapy drug, methotrexate (MTX) has achieved remarkable clinical success. However, high inter-individual variability and unpredictable toxicity continue to challenge its use in clinical practices. Some studies suggest this variation is associated with a methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, but results remain unclear. In this meta-analysis, we include 14 studies that focus on MTHFR C677T and A1298C polymorphisms in pediatric patients with malignancy. We found significant associations of the MTHFR C677T polymorphism with hepatotoxicity (grade ⩾2; CC vs CT/TT: risk ratio (RR): 0...
July 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28690984/the-rapid-internationalization-of-annals-of-pediatric-endocrinology-metabolism-as-evidenced-by-journal-metrics
#10
Sun Huh
PURPOSE: Using journal metrics, this paper explores whether Annals of Pediatric Endocrinology & Metabolism has internationalized 4 years after changing its language to English only. METHODS: From the journal's website and the Web of Science Core Collection, the following metrics were counted or calculated: Number of citable articles, countries of authors and editorial board members, total citations, impact factor, countries of citing authors, citing journal titles, and Hirsch index...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28648283/50-years-ago-in-the-journal-of-pediatrics-an-assessment-of-the-creatine-kinase-test-in-the-detection-of-carriers-of-duchenne-muscular-dystrophy
#11
Meeta Wagle Cardon
No abstract text is available yet for this article.
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28648282/50-years-ago-in-the-journal-of-pediatrics-developmental-changes-in-overflow-in-normal-and-aberrantly-functioning-children
#12
Martha Bridge Denckla
No abstract text is available yet for this article.
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28648281/50-years-ago-in-the-journal-of-pediatrics-the-radiographic-diagnosis-of-congenital-hypertrophic-pyloric-stenosis
#13
Carlos A Cuello-Garcia
No abstract text is available yet for this article.
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28648271/50-years-ago-in-the-journal-of-pediatrics-primary-atypical-pneumonia-an-epidemic-caused-by-mycoplasma-pneumoniae
#14
Sarah S Long
No abstract text is available yet for this article.
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28648270/50-years-ago-in-the-journal-of-pediatrics-shigellae-with-transferable-drug-resistance-outbreak-in-a-nursery-for-premature-infants
#15
Philip Toltzis
No abstract text is available yet for this article.
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28617430/physician-views-regarding-the-benefits-and-burdens-of-prenatal-surgery-for-myelomeningocele
#16
R M Antiel, C A Collura, A W Flake, M P Johnson, N E Rintoul, J D Lantos, F A Curlin, J C Tilburt, S D Brown, C Feudtner
OBJECTIVE: Examine how pediatric and obstetrical subspecialists view benefits and burdens of prenatal myelomeningocele (MMC) closure. STUDY DESIGN: Mail survey of 1200 neonatologists, pediatric surgeons and maternal-fetal medicine specialists (MFMs). RESULTS: Of 1176 eligible physicians, 670 (57%) responded. Most respondents disagreed (68%, 11% strongly) that open fetal surgery places an unacceptable burden on women and their families. Most agreed (65%, 10% strongly) that denying the benefits of open maternal-fetal surgery is unfair to the future child...
June 15, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28608632/cystic-fibrosis-year-in-review-2016
#17
REVIEW
Adrienne P Savant, Susanna A McColley
In this article, we highlight cystic fibrosis (CF) research and case reports published in Pediatric Pulmonology during 2016. We also include articles from a variety of journals that are thematically related to these articles, or are of special interest to clinicians.
August 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28605805/journal-of-pediatric-psychology-volume-42-number-6-july-2017
#18
(no author information available yet)
No abstract text is available yet for this article.
July 1, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/28605803/journal-of-pediatric-psychology-front-cover
#19
(no author information available yet)
No abstract text is available yet for this article.
July 1, 2017: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/28574541/forgotten-but-not-gone-update-on-measles-infection-for-hospitalists
#20
REVIEW
Ketino Kobaidze, Gregory Wallace
Measles (rubeola) continues to be endemic and epidemic in many regions of the world. Measles is primarily a disease of childhood, but it can also affect adult populations, and therefore it is important that both adult and pediatric hospitalist physicians be able to recognize it. Although the disease is rarely encountered in the United States, measles infection can spread rapidly across vulnerable populations. In addition, infected adults can develop complications that may require hospitalization for treatment...
June 2017: Journal of Hospital Medicine: An Official Publication of the Society of Hospital Medicine
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