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Developmental pediatrics

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https://www.readbyqxmd.com/read/29240982/multi-dimensional-bone-density-phenotyping-reveals-new-insights-in-to-genetic-regulation-of-the-pediatric-skeleton
#1
Jonathan A Mitchell, Alessandra Chesi, Diana L Cousminer, Shana E McCormack, Heidi J Kalkwarf, Joan M Lappe, Vicente Gilsanz, Sharon E Oberfield, John A Shepherd, Andrea Kelly, Babette S Zemel, Struan F A Grant
Osteoporosis is a complex disease with developmental origins. It is therefore important to understand the genetic contribution to pediatric areal bone mineral density (aBMD). Individual skeletal site phenotyping has been primarily used to identify pediatric aBMD loci. However, this approach is limited because there is a degree of aBMD discordance across skeletal sites. We, therefore, applied a novel multi-dimensional phenotyping approach to further understand the genetic regulation of pediatric aBMD. Our sample comprised a prospective, longitudinal cohort of 1,293 children of European ancestry (52% female; up to 7 annual measurements)...
December 14, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29229894/retrospective-review-of-pediatric-status-epilepticus-in-116-saudi-patients-predictors-of-outcome
#2
Raid Harb Hommady, Muhammad Talal Alrifai, Osama Khaled Mubayrik, Ruba Salem Alayed, Muhannad Abdulrahman Alsemari, Ahmed Arumayyan, Waleed Altuwaijri, Duaa Baarmah
BACKGROUND: Status epilepticus (SE) is a common, life-threatening condition. Multiple factors are used to predict its outcome and evaluate its risks, and there have been only a few studies in Saudi Arabia. OBJECTIVES: Investigate predictors of SE outcome. DESIGN: Retrospective chart review study. SETTING: Tertiary center, Riyadh. PATIENTS AND METHODS: We reviewed all pediatric cases (age 14 years or younger) of SE admitted between January 2005 and December 2015, collecting data on age, sex, date of birth, developmental status, pre-existing neurological diseases, SE etiology, Glasgow Outcome Scale (GOS) scores, and electroencephalogram (EEG) findings...
November 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29227523/childhood-ingestions-of-environmental-toxins-what-are-the-risks
#3
Marissa Hauptman, Alan D Woolf
Infants and children are at higher risk than adolescents and adults for exposure to environmental toxins via ingestion for a number of reasons: their smaller size (and proportionately larger dose of ingested toxins), their closer proximity to the ground, dirt, and indoor dust, their boundless curiosity and oral exploratory behaviors, pica habits that may persist into school-age for children with autism or other developmental delays, their proportionately larger daily water and milk intake, and food preferences that differ markedly from adolescents and adults...
December 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29227519/pediatric-poisoning-by-ingestion-developmental-overview-and-synopsis-of-national-trends
#4
Vincent R Lee, Michael Connolly, Diane P Calello
The American Association of Poison Control Centers' National Poison Data Surveillance System provides real-time toxico-surveillance and epidemiologic trends, and pediatric ingestions comprise most of those reports. The sequences in social and physical developmental milestones from young childhood to adolescence reveal the vulnerability of these age groups to a wide variety of potential poisonous ingestions. Most pediatric ingestions are exploratory. Some common agents associated with pediatric fatalities include disc batteries, laundry detergent "pods," opioid analgesics, acetaminophen, benzodiazepines, and amphetamines...
December 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29225006/mechanistic-studies-on-ketamine-induced-mitochondrial-toxicity-in-zebrafish-embryos
#5
Bonnie L Robinson, Melanie Dumas, Syed F Ali, Merle G Paule, Qiang Gu, Jyotshna Kanungo
Ketamine, a phencyclidine derivative, is an antagonist of the Ca2+-permeable N-methyl-d-aspartate (NMDA)-type glutamate receptors. It is a pediatric anesthetic and has been implicated in developmental neurotoxicity. Ketamine has also been shown to deplete ATP in mammalian cells. Our previous studies showed that acetyl l-carnitine (ALCAR) prevented ketamine-induced cardiotoxicity and neurotoxicity in zebrafish embryos. Based on our finding that ALCAR's protective effect was blunted by oligomycin A, an inhibitor of ATP synthase, we further investigated the effects of ketamine and ALCAR on ATP levels, mitochondria and ATP synthase in zebrafish embryos...
December 7, 2017: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/29224642/drug-induced-cardiac-abnormalities-in-premature-infants-and-neonates
#6
REVIEW
Luana Pesco-Koplowitz, Gary Gintant, Robert Ward, Dominique Heon, Muriel Saulnier, Jeff Heilbraun
The Cardiac Safety Research Consortium (CSRC) is a transparent, public-private partnership that was established in 2005 as a Critical Path Program and formalized in 2006 under a Memorandum of Understanding between the United States Food and Drug Administration and Duke University. Our continuing goal is to advance paradigms for more efficient regulatory science related to the cardiovascular safety of new therapeutics, both in the United States and globally, particularly where such safety questions add burden to innovative research and development...
January 2018: American Heart Journal
https://www.readbyqxmd.com/read/29218095/effect-of-repeated-neonatal-sevoflurane-exposure-on-the-learning-memory-and-synaptic-plasticity-at-juvenile-and-adult-age
#7
Xiaoli Liang, Yi Zhang, Chao Zhang, Chunchun Tang, Yi Wang, Juanjuan Ren, Xi Chen, Yu Zhang, Zhaoqiong Zhu
Currently sevoflurane is the volatile anesthetic most wildly used in pediatric surgery. Whether neonatal exposure to sevoflurane brings about a long-lasting adverse impact even at juvenile and adult age, attracts extensive concerns. However, to date the consensus has not been reached and how exposure to sevoflurane in early life affects long-term ability of learning and memory is not fully elucidated. To obtain further insight into this issue, 32 neonatal SD rats were assigned into control group (group C, n=16) and sevoflurane group (group SEV, n=16)...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/29217964/sit-down-and-play-a-preventive-primary-care-based-program-to-enhance-parenting-practices
#8
Reshma Shah, Daniela DeFrino, Yoonsang Kim, Marc Atkins
The primary care office offers an ideal setting to encourage parenting behaviors that promote early childhood development. We conducted a pilot study to establish feasibility and acceptability of Sit Down and Play (SDP), a brief primary care-based program to facilitate positive parenting behaviors through take-home play activities. A prospective 1-month study was conducted in an urban primary care clinic. SDP was administered to 30 caregivers of 6-12 month old children while they waited for their well-child appointment...
February 2017: Journal of Child and Family Studies
https://www.readbyqxmd.com/read/29216871/mental-health-literacy-among-pediatric-hospital-staff-in-the-united-arab-emirates
#9
Nabeel Al-Yateem, Rachel Rossiter, Walter Robb, Alaa Ahmad, Mahmoud Saleh Elhalik, Sumaya Albloshi, Shameran Slewa-Younan
BACKGROUND: In the United Arab Emirates (UAE) 35% of the population are aged 0-24 years. A significant proportion of these young people are living with chronic conditions (e.g., asthma, type 1 diabetes, cardiac conditions, and genetically-transmitted conditions such as thalassemia and cystic fibrosis). This group has increased vulnerability to developmental delays and mental health problems, and is increasingly coming to the attention of service providers in mainstream schools, primary healthcare centers, and pediatric hospitals...
December 8, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/29214085/sox5-null-heterozygous-mutation-in-a-family-with-adult-onset-hyperkinesia-and-behavioral-abnormalities
#10
Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann
SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29211057/neonatal-neutrophils-stimulated-by-group-b-streptococcus-induce-a-proinflammatory-t-helper-cell-bias
#11
Jianguo Lin, Seema Haridas, Stephen J Barenkamp, Larissa Chioquetta Lorenset, Ashley Sang Eun Lee, Benjamin T Schroeder, Guangyong Peng, Joyce M Koenig
BackgroundGroup B Streptococcus (GBS) infection causes inflammatory comorbidities in newborns. While the mechanisms remain unclear, evidence suggests that impaired innate-adaptive immune interactions may be contributory. We hypothesized that GBS-stimulated neonatal neutrophils provide a milieu that may drive proinflammatory T-helper (Th) cell programming.MethodsNeutrophils were stimulated with Type III GBS (COH1); supernatants or intact neutrophils were cocultured with CD4+ T cells or regulatory T cells (Tregs)...
December 6, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29209884/congenital-obstruction-of-foramen-of-monro-report-of-10-patients-and-literature-review
#12
Shima Shahjouei, Zohreh Habibi, Soheil Naderi, Ramin Mahmoodi, Farideh Nejat
INTRODUCTION: A wide spectrum of etiologies can obstruct foramen of Monro (FOM) and result in hydrocephalus. Congenital occlusion of FOM is a rare entity which may present either in childhood or in adulthood. METHODS: Between 2007 and 2016, we screened all pediatric patients with hydrocephalus of either one or both lateral ventricles. Congenital occlusion of FOM was confirmed in the absence of masses occupying the FOM, prenatal or postnatal central nervous system (CNS) infections, intraventricular hemorrhage, previous cerebral intervention, or associated CNS anomalies affecting the flow of cerebrospinal fluid (CSF)...
December 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29198616/incidence-of-hypoglycemia-in-newborns-at-risk-and-an-audit-of-the-2011-american-academy-of-pediatrics-guideline-for-hypoglycemia
#13
Nihan Hilal Hosagasi, Mustafa Aydin, Aysegul Zenciroglu, Nuran Ustun, Serdar Beken
BACKGROUND: Hypoglycemia is low blood glucose level that may negatively affect neurological and developmental prognosis. The American Academy of Pediatrics (AAP), Committee on Fetus and Newborn defined the safe glucose concentrations in the 2011 guideline for newborns at risk for hypoglycemia. This study aimed to investigate the incidence and associated risk factors for hypoglycemia in newborn infants having risk and to assess compliance with the AAP guideline. METHODS: According to 2011 AAP guideline for hypoglycemia, the newborns at risk for hypoglycemia included in this study were divided to four groups [infant of diabetic mother (IDM), large-for-gestational-age (LGA) infants, small-for-gestational-age (SGA) infants, and late preterm infants (LPI)]...
November 15, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29190809/molecular-diagnosis-of-patients-with-epilepsy-and-developmental-delay-using-a-customized-panel-of-epilepsy-genes
#14
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
https://www.readbyqxmd.com/read/29190237/impact-of-etiology-on-the-outcome-of-pediatric-rhegmatogenous-retinal-detachment
#15
Ying-Chen Huang, Yen-Chang Chu, Nan-Kai Wang, Chi-Chun Lai, Kuan-Jen Chen, Yih-Shiou Hwang, Wei-Chi Wu
PURPOSE: To evaluate the clinical features and surgical outcomes of rhegmatogenous retinal detachment in pediatric patients and to identify the independent effect of each etiology on the outcome. METHODS: A review of patients younger than 18 years who underwent vitreoretinal surgery was conducted at Chang Gung Memorial Hospital, Taoyuan, between 2008 and 2013. Patients were classified according to etiology. Multivariate logistic regression analysis was performed to evaluate the association between outcomes and each etiologic factor...
November 22, 2017: Retina
https://www.readbyqxmd.com/read/29173715/interprofessional-collaborative-practice-in-early-intervention
#16
REVIEW
Kathy L Coufal, Juliann J Woods
Professionals in pediatric practice encounter infants and toddlers with developmental delays, disabilities, or complex chronic health conditions eligible for Part C early intervention (EI) services. The most frequently identified concern by families is communication emphasizing the importance of the role of the speech language pathologist (SLP). This article provides a conceptual framework for SLP services in early intervention, based on the principles of interprofessional collaboration. The history of collaboration, EI, and the role of SLPs as members of the EI team are summarized...
February 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29171008/patient-reported-outcome-measures-for-young-people-with-developmental-disabilities-incorporation-of-design-features-to-reduce-cognitive-demands
#17
REVIEW
Ariel E Schwartz, Jessica M Kramer, Angela L Longo
Use of patient-reported outcome measures (PROMs) may increase the involvement of young people with developmental disabilities in their healthcare decisions and healthcare-related research. Young people with developmental disabilities may have difficulty completing PROMs because of extraneous assessment demands that require additional cognitive processes. However, PROM design features may mitigate the impact of these demands. We identified and evaluated six pediatric PROMs of self-care and domestic life tasks for the incorporation of suggested design features that can reduce cognitive demands...
November 24, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29160643/antithrombotic-treatment-in-neonates-and-children
#18
Cornelia H van Ommen
Despite the increasing incidence of venous thromboembolic disease in pediatric patients, it remains a rare complication in childhood. Particularly neonates and adolescents are at risk for development of venous thrombosis. Spontaneous thrombotic events are sporadic, the majority of children have multiple co-existing risk factors, including central venous catheter, asphyxia, congenital heart disease, infection, malignancy, surgery and hypovolemia. Most thrombi are diagnosed by ultrasonography. Recommendations for management of pediatric thrombosis are typically extrapolated from adult studies, despite many differences between adults and children, including developmental hemostasis...
November 21, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/29158552/care-and-cost-consequences-of-pediatric-whole-genome-sequencing-compared-to-chromosome-microarray
#19
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Sarah Bowdin, D James Stavropoulos, Christian R Marshall, Raveen Basran, Cheryl Shuman, Shinya Ito, Iris Cohn, Courtney Hum, Marta Girdea, Michael Brudno, Ronald D Cohn, Stephen W Scherer, Wendy J Ungar
The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare activities prompted by WGS and CMA were ascertained for 101 children with developmental delay over 1 year. Activities following receipt of non-diagnostic CMA were compared to WGS diagnostic and non-diagnostic results. Activities were costed in 2016 Canadian dollars (CDN)...
November 20, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29157498/the-medical-transition-from-pediatric-to-adult-oriented-care-considerations-for-child-and-adolescent-psychiatrists
#20
REVIEW
Laura C Hart, Gary Maslow
More adolescents and young adults are surviving previously fatal childhood illness and need support to transition from pediatric care to adult-oriented care. There are many barriers, but guidelines and tools assist providers with emphasis on gradually addressing transition with patients and families. Child and adolescent psychiatrists should be particularly attuned to the needs of adolescents with previously identified mental illness who are at high risk of falling out of regular care during transition. Providers are also uniquely suited to address the needs of adolescents and young adults with intellectual and developmental disabilities...
January 2018: Child and Adolescent Psychiatric Clinics of North America
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