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https://www.readbyqxmd.com/read/29148248/recurrent-coarctation-of-aorta-after-norwood-operation-in-single-ventricle-patients-the-case-of-the-missing-ideal-stent
#1
EDITORIAL
Dhaval R Parekh, Zvonimir Krajcer
Recurrent coarctation postoperative Norwood is poorly tolerated in single ventricle patients. Although transcatheter balloon angioplasty is considered first line, it often leads to inadequate or non-durable relief of obstruction. Transcatheter stent implantation provides excellent relief of obstruction but necessitates staged redilation to account for somatic growth in children. Stent technology, delivery systems, and procedural techniques will need to evolve to obviate reported adverse events mainly due to patient size...
November 15, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/29146900/the-genomic-landscape-of-pediatric-myelodysplastic-syndromes
#2
Jason R Schwartz, Jing Ma, Tamara Lamprecht, Michael Walsh, Shuoguo Wang, Victoria Bryant, Guangchun Song, Gang Wu, John Easton, Chimene Kesserwan, Kim E Nichols, Charles G Mullighan, Raul C Ribeiro, Jeffery M Klco
Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort)...
November 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#3
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29140276/clinical-profile-associated-with-adverse-childhood-experiences-the-advent-of-nervous-system-dysregulation
#4
Jorina Elbers, Cynthia R Rovnaghi, Brenda Golianu, Kanwaljeet J S Anand
BACKGROUND: We report the prevalence of children with multiple medical symptoms in a pediatric neurology clinic, describe their symptom profiles, and explore their association with adverse childhood experiences (ACEs). METHODS: We retrospectively reviewed 100 consecutive patients from an outpatient pediatric neurology clinic. Patients were included if they were ≥5 years old and reported ≥4 symptoms that were unexplained for ≥3-months. Symptom profiles across six functional domains were recorded: (1) executive dysfunction, (2) sleep disturbances, (3) autonomic dysregulation, (4) somatization, (5) digestive symptoms, and (6) emotional dysregulation...
November 15, 2017: Children
https://www.readbyqxmd.com/read/29119961/-the-effectiveness-of-the-improvement-of-health-in-the-schoolchildren-staying-in-a-country-summer-camp
#5
D N Lir, A Ya Perevalov
Organization of recreational activities in the children's camps is inseparable from the assessment of their effectiveness. AIM: The objective of the present study was to estimate the influence of the pastime of the children in a summer camp under the habitual climatic conditions and the resulting improvement of their health status including the body component composition and the functional state of the organism. MATERIAL AND METHODS: The study included 44 schoolchildren at the age from 9 to12 years...
2017: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
https://www.readbyqxmd.com/read/29111178/dose-dependent-neurocognitive-deficits-following-postnatal-day-10-hiv-1-viral-protein-exposure-relationship-to-hippocampal-anatomy-parameters
#6
Sylvia Fitting, Kristen A McLaurin, Rosemarie M Booze, Charles F Mactutus
Despite the availability of antiretroviral prophylactic treatment, pediatric human immunodeficiency virus type 1 (HIV-1) continues to be a significant risk factor in the post-cART era. The time of infection (i.e., during pregnancy, delivery or breastfeeding) may play a role in the development of neurocognitive deficits in pediatric HIV-1. HIV-1 viral protein exposure on postnatal day (P)1, preceding the postnatal brain growth spurt in rats, had deleterious effects on neurocognitive development and anatomical parameters of the hippocampus (Fitting et al...
October 27, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29107340/langerhans-cell-histiocytosis-a-neoplastic-disorder-driven-by-ras-erk-pathway-mutations
#7
REVIEW
Gary Tran, Thy N Huynh, Amy S Paller
Langerhans cell histiocytosis (LCH) is a disorder of myeloid neoplasia of dendritic cells that affects 1 in 200,000 children <15 years of age and even fewer adults. LCH presents with a spectrum of clinical manifestations. High-risk stratification is reserved for infiltration of blood, spleen, liver, and lungs. After decades of debate on the disease pathogenesis, a neoplastic mechanism is now favored on the basis of LCH cell clonality, rare cases of familial clustering, and recent evidence of mutations involving the Ras/Raf/MEK (mitogen-activated protein kinase kinase)/ERK (extracellular signal-regulated kinase) pathway in lesional biopsy specimens...
October 26, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29095780/a-stinging-suspicion-something-was-just-not-right-methamphetamine-toxicity-in-infant-mimics-scorpion-envenomation
#8
Holly E Pariury, Aimee M Steiniger, Merlin C Lowe
The sting from Centuroides sculpturatus, commonly known as the bark scorpion, is a serious medical problem and can be potentially fatal to young children. Centuroides sculpturatus envenomation can cause a wide spectrum of symptoms, often including autonomic dysfunction, cranial nerve abnormalities, and somatic motor abnormalities. We discuss a 6-month-old male infant who presented with signs and symptoms consistent with bark scorpion envenomation, later found to be secondary to methamphetamine toxicity. Emergency pediatricians should be aware of the strong similarities between scorpion envenomation and methamphetamine toxicity in pediatric patients residing in or having visited the southwestern region of the United States...
November 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29073291/-direction-of-change-in-the-somatic-development-in-children-and-adolescents-with-type-1-diabetes
#9
Honorata Kołodziejczyk, Małgorzata Wajda-Cuszlag, Anna Świercz, Mieczysław Szalecki
INTRODUCTION: Disorders of somatic development in children and adolescents with type 1 diabetes can lead to unstable course of the disease and the difficulties in obtaining good metabolic control. AIM: Evaluation of somatic development in children and adolescents with type 1 diabetes in different age categories. MATERIAL AND METHODS: Agroup of 97 girls and 90 boys with type 1 diabetes was examined. Children were divided into three age groups: girls with mean age of 9...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29072184/dysfunctional-internet-behaviour-symptoms-in-association-with-personality-traits
#10
E Tsiolka, I D Bergiannaki, M Margariti, M Malliori, Ch Papageorgiou
Internet addiction is a matter of great interest for researchers, taking into consideration Internet's rapid spread and its ever growing use in children, adolescents and adults. It has been associated with multiple psychological symptoms and social difficulties, therefore raising even greater concerns for its adverse consequences. The present study that consists part of a broader research, aims to investigate the association between excessive Internet use and personality traits in an adult population. Specifically, the research examined the relation between dysfunctional internet behaviour and personality traits as neuroticism and extraversion, the two personality dimensions that have arisen as the most important ones in all relevant research...
July 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/29071455/assessment-of-significant-psychological-distress-at-the-end-of-pregnancy-and-associated-factors
#11
L Lorén-Guerrero, A Gascón-Catalán, D Pasierb, M A Romero-Cardiel
The aim of this study is to study the prevalence of mental distress at the end of pregnancy and after birth and the impact of selected socio-demographic and obstetric factors. This is a cross-sectional study. The sample is consisted of 351 puerperal women at the age of 18 and over. Sociodemographic, obstetric variables were collected to detect significant psychological distress; the instrument used was General Health Questionnaire (GHQ-28). Logistic multivariable regressions were used to investigate associations...
October 25, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/29065893/neuropsychological-and-internalizing-problems-in-acute-central-nervous-system-infections-a-1-year-follow-up
#12
Bozzola Elena, Bergonzini Paola, Bozzola Mauro, Tozzi Alberto Eugenio, Masci Marco, Rossetti Chiara, Carloni Emanuela, Villani Alberto
BACKGROUND: Acute central nervous system (ACNS) infections such as meningitis, encephalitis and cerebellitis still cause morbidity and mortality among children. The aim of this study was to verify whether neuropsychological impairment may develop in ACNS survivors. METHODS: The study included pediatric patients affected by ACNS disorders, aged 3-16 years admitted to the Bambino Gesù Children Hospital, Rome from June 2013 till June 2015. The patients and their parents underwent a psychological interview and neuropsychological tests during the first week of hospital admission and 1 year after, during a follow-up control...
October 24, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29062613/emerging-and-investigational-therapies-for-neuroblastoma
#13
Mark A Applebaum, Ami V Desai, Julia L Glade Bender, Susan L Cohn
INTRODUCTION: Treatment for children with clinically aggressive, high-risk neuroblastoma remains challenging. Less than 50% of patients with high-risk neuroblastoma will survive long-term with current therapies, and survivors are at risk for serious treatment-related late toxicities. Here, we review new and evolving treatments that may ultimately improve outcome for children with high-risk neuroblastoma with decreased potential for late adverse events. AREAS COVERED: New strategies for treating high-risk neuroblastoma are reviewed including: radiotherapy, targeted cytotoxics, biologics, immunotherapy, and molecularly targeted agents...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29058986/identification-of-clinical-and-biologic-correlates-associated-with-outcome-in-children-with-adrenocortical-tumors-without-germline-tp53-mutations-a-st-jude-adrenocortical-tumor-registry-and-children-s-oncology-group-study
#14
Emilia Modolo Pinto, Carlos Rodriguez-Galindo, Stanley B Pounds, Lei Wang, Michael R Clay, Geoffrey Neale, Elizabeth A R Garfinkle, Catherine G Lam, Carolyn Fein Levy, Alberto S Pappo, Gerard P Zambetti, Raul C Ribeiro
Purpose The clinical features, pathogenesis, and outcomes in children with adrenocortical tumors (ACTs) without germline TP53 mutations have not been systematically studied. Herein, we describe these correlates and analyze their association with outcome. Patients and Methods Genomic DNA was analyzed for TP53, CTNNB1, CDKN1C, ATRX, and chromosome 11p15 abnormalities. β-catenin expression and Ki-67 labeling index (LI) were evaluated by immunostaining. Primary end points were progression-free (PFS) and overall survival...
October 23, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29052228/symptoms-of-depression-in-swedish-fathers-in-the-postnatal-period-and-development-of-a-screening-tool
#15
Elia Psouni, Johan Agebjörn, Hanne Linder
Methods for detecting depression in fathers after the birth of their child are scarce. The Edinburgh Postnatal Depression Scale (EPDS), used to screen mothers for postpartum depression (PPD), lacks somatization and externalizing items. This potentially decreases its sensitivity in detecting depression in fathers, as many men actually express depression with somatization or externalizing symptoms. The present study assessed depressive symptoms in fathers of children 0-18 months old, and evaluated whether addressing both typical depression and externalizing, so-called "depressive equivalent" symptoms, might be more suitable for such assessment...
October 20, 2017: Scandinavian Journal of Psychology
https://www.readbyqxmd.com/read/29032173/the-reduced-osteogenic-potential-of-nf1-deficient-osteoprogenitors-is-egfr-independent
#16
S E Tahaei, G Couasnay, Y Ma, N Paria, J Gu, B F Lemoine, X Wang, J J Rios, F Elefteriou
Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by mutations in the NF1 gene. Recalcitrant bone healing following fracture (i.e. pseudarthrosis) is one of the most problematic skeletal complications associated with NF1. The etiology of this condition is still unclear; thus, pharmacological options for clinical management are limited. Multiple studies have shown the reduced osteogenic potential of Nf1-deficient osteoprogenitors. A recent transcriptome profiling investigation revealed that EREG and EGFR, encoding epiregulin and its receptor Epidermal Growth Factor Receptor 1, respectively, were among the top over-expressed genes in cells of the NF1 pseudarthrosis site...
October 12, 2017: Bone
https://www.readbyqxmd.com/read/29025600/a-novel-somatic-jak2-kinase-domain-mutation-in-pediatric-acute-lymphoblastic-leukemia-with-rapid-on-treatment-development-of-loh
#17
Teresa Sadras, Susan L Heatley, Chung H Kok, Barbara J McClure, David Yeung, Timothy P Hughes, Rosemary Sutton, David S Ziegler, Deborah L White
We report a novel somatic mutation in the kinase domain of JAK2 (R938Q) in a high-risk pediatric case of B-cell acute lymphoblastic leukemia (ALL). The patient developed on-therapy relapse at 12 months, and interestingly, the JAK2 locus acquired loss of heterozygosity during treatment resulting in 100% mutation load. Furthermore, we show that primary ALL mononuclear cells harboring the JAK2 R938Q mutation display reduced sensitivity to the JAK1/2 ATP-competitive inhibitor ruxolitinib in vitro, compared to ALL cells that carry a more common JAK2 pseudokinase domain mutation...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28992218/long-term-consequences-of-renal-insufficiency-in-children-lessons-learned-from-the-dutch-leric-study
#18
Jaap W Groothoff, Martin Offringa, Martha Grootenhuis, Kitty J Jager
Few data exist on the prospects in adulthood for children on chronic renal replacement therapy (RRT). This article summarizes the results of a comprehensive Dutch long-term follow-up study performed in 2000 and 2010 of patients with RRT onset at age <15 years between 1972 and 1992. After a median of 25.5 RRT years, patients had stayed 23% of RRT time on dialysis. We observed a 30 times greater mortality risk compared with age-matched peers with cardiovascular disease (CVD) as the main cause of death during 1972-2000 and infections during 2000-10...
July 7, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28986993/children-in-out-of-home-care-are-at-high-risk-of-somatic-dental-and-mental-ill-health
#19
L S Randsalu, L Laurell
AIM: The Swedish Social Board has implemented a support strategy to guide out-of-home care for children, which translates as children's needs in focus (CNIF) and includes a systematic health assessment. It was fully introduced into the Skåne province in 2012 and our study covered the first four years of the CNIF health assessments, from 2012 to 2015. METHODS: We studied children aged 0-17 years in out-of-home care who had been referred by social workers for a CNIF health assessment, using their medical records to investigate both their health and the value of the health assessments...
October 7, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28980053/serial-versus-direct-dilation-of-small-diameter-stents-results-in-a-more-predictable-and-complete-intentional-transcatheter-stent-fracture-a-pices-bench-testing-study
#20
Matthew A Crystal, Gareth J Morgan, Saar Danon, Robert G Gray, Daniel H Gruenstein, Brent M Gordon, Bryan H Goldstein
Balloon-expandable stents, implanted in infants and children with congenital heart disease (CHD), often require redilation to match somatic growth. Small diameter stents may eventually require longitudinal surgical transection to prevent iatrogenic vascular stenosis. Intentional transcatheter stent fracture (TSF) is an emerging alternative approach to stent transection, but little is known about the optimal stent substrate and best protocol to improve the likelihood of successful TSF. Bench testing was performed with a stent dilation protocol...
October 4, 2017: Pediatric Cardiology
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