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Developmental pediatrics

Linda M Reis, Rebecca C Tyler, Eric Weh, Kathryn E Hendee, Ariana Kariminejad, Omar Abdul-Rahman, Tawfeg Ben-Omran, Melanie A Manning, Catherine A McCarty, Terrie E Kitchner, Deborah Costakos, Elena V Semina
PURPOSE: The CYP1B1 gene encodes an enzyme that is a member of the cytochrome P450 superfamily. Mutations in CYP1B1 have been mainly reported in recessive pediatric ocular phenotypes, such as primary congenital glaucoma (PCG) and congenital glaucoma with anterior segment dysgenesis (CG with ASD), with some likely pathogenic variants also identified in families affected with adult-onset primary open angle glaucoma (POAG). METHODS: We examined CYP1B1 in 158 pediatric patients affected with PCG (eight), CG with ASD (22), CG with other developmental ocular disorders (11), juvenile glaucoma with or without additional ocular anomalies (26), and ASD or other developmental ocular conditions without glaucoma (91); in addition, a large cohort of adult patients with POAG (193) and POAG-negative controls (288) was examined...
2016: Molecular Vision
Lori J Stark, Stephanie Spear Filigno, Christopher Bolling, Megan B Ratcliff, Jessica C Kichler, Shannon L Robson, Stacey L Simon, Mary Beth McCullough, Lisa M Clifford, Cathleen O Stough, Cynthia Zion, Richard F Ittenbach
Obesity affects nearly 2 million preschool age children in the United States and is not abating. However, research on interventions for already obese preschoolers is limited. To address this significant gap in the literature, we developed an intervention targeting obesity reduction in 2 to 5year olds, Learning about Activity and Understanding Nutrition for Child Health (LAUNCH). This paper describes the rationale, design, participant enrollment, and implementation of a 3-arm randomized, parallel-group clinical trial comparing LAUNCH to a motivational-interviewing intervention (MI) and standard care (STC), respectively...
October 21, 2016: Contemporary Clinical Trials
Paresh Zanzmera, Ramshekhar N Menon, Kalyani Karkare, Himanshu Soni, Sujit Jagtap, Ashalatha Radhakrishnan
PURPOSE: The purpose of this article was to study the electroclinical characteristics and seizure outcome of children with epilepsy with myoclonic absences (EMA). METHOD: In this descriptive cohort study, we reviewed clinical records of patients who met the criteria for EMA. Each patient's demographic data, birth/developmental history, seizure semiology/pattern, antiepileptic drugs (AED), clinical examination, video-electroencephalography (VEEG), and neuroimaging data were reviewed...
October 19, 2016: Epilepsy & Behavior: E&B
Christopher A Flessner, Yolanda E Murphy, Elle Brennan, Alexandra D'Auria
Developmental models of pediatric anxiety posit multiple, maladaptive parenting behaviors as potential risk factors. Despite this, a standardized means of assessing multiple of these practices (i.e., anxiogenic parenting) in a comprehensive and efficient manner are lacking. In Study 1531 parents of children 7-17 years old completed an online survey via Amazon Mechanical Turk. In Study 2, a separate community sample (N = 109; 9-17 years old) was recruited and completed a comprehensive assessment battery as part of a larger study...
October 21, 2016: Child Psychiatry and Human Development
Manisha Balwani, Preeti Singh, Anju Seth, Ekta Malik Debnath, Hetanshi Naik, Dana Doheny, Brenden Chen, Makiko Yasuda, Robert J Desnick
Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pediatric cases are male. While acute abdominal pain is the most common presenting symptom in children, seizures are commonly seen and may precede the diagnosis of AIP. As an example, we report a 9year old developmentally normal pre-pubertal boy who presented with acute abdominal pain, vomiting and constipation followed by hyponatremia, seizures, weakness and neuropathy...
October 15, 2016: Molecular Genetics and Metabolism
Lisa J Meltzer
Research in the field of pediatric sleep has grown significantly in the past 25 years. However, because much remains to be learned about the complex and dynamic relationship between sleep and developmental psychopathology, this special issue of the Journal of Clinical Child and Adolescent Psychology was created to provide an influx of cutting-edge research on this important topic. This introduction provides an overview of the special issue, with articles focusing on what different measurement approaches tells us about the intersection of sleep and developmental psychopathology; the overlap between interventions for sleep and anxiety; sleep as a potential mechanism for the development of social, emotional, and behavioral problems; and how population-based studies can be used to consider the interaction between sleep, well-being, and symptoms of psychopathology...
October 21, 2016: Journal of Clinical Child and Adolescent Psychology
Matthew R Plunk, Dolphine Oda, Shawn E Parnell, Jason N Wright, Bonnie L Cole, Ramesh S Iyer
OBJECTIVE: Lucent lesions of the pediatric mandible may present variably. Cysts, neoplasms, and developmental and inflammatory conditions have a host of possible causes. There is also substantial overlap in the imaging appearance of cysts and that of benign but locally aggressive tumors that need to undergo resection. CONCLUSION: The purpose of this article is to present common and uncommon lucent lesions of the mandible in children, with an emphasis on benign abnormalities...
October 20, 2016: AJR. American Journal of Roentgenology
Grzegorz Jedrzejewski, Magdalena M Wozniak, Agata Pawelec, Albert Matera, Magdalena Kunach, Tomasz Madej, Andrzej P Wieczorek, Katarzyna Nowakowska
The aim of the ultrasound (US) screening program was to detect neoplastic lesions in children, together with other pathologies of the developmental age in the area of the neck, abdomen, female pelvis, and scrotum in boys.US screening scans, including cervical, abdominal, pelvical, and scrotal US, were performed in the population of asymptomatic children aged from 9 months to 6 years. The children were scanned in Mobile Pediatric US Unit, consisting of 2 independent consulting rooms.The scans of 14,324 children were analyzed, 7247 boys and 7077 girls...
October 2016: Medicine (Baltimore)
Jinghua Wu, Shan Jia, Changxi Wang, Wei Zhang, Sixi Liu, Xiaojing Zeng, Huirong Mai, Xiuli Yuan, Yuanping Du, Xiaodong Wang, Xueyu Hong, Xuemei Li, Feiqiu Wen, Xun Xu, Jianhua Pan, Changgang Li, Xiao Liu
Acute B lymphoblastic leukemia (B-ALL) is one of the most common types of childhood cancer worldwide and chemotherapy is the main treatment approach. Despite good response rates to chemotherapy regiments, many patients eventually relapse and minimal residual disease (MRD) is the leading risk factor for relapse. The evolution of leukemic clones during disease development and treatment may have clinical significance. In this study, we performed immunoglobulin heavy chain (IGH) repertoire high throughput sequencing (HTS) on the diagnostic and post-treatment samples of 51 pediatric B-ALL patients...
2016: Frontiers in Immunology
Ahmad Ismail
Providing effective pain management is necessary for all patients in the intensive care unit (ICU). Because of developmental considerations, caring for children may provide additional challenges. The purpose of this literature review is to describe key challenges in providing effective pain management in pediatric intensive care units (PICUs), with the aim of bringing about a better understanding by health care providers caring for children. Challenges of providing effective pain management in the PICU can be categorized into four levels...
October 15, 2016: Pain Management Nursing: Official Journal of the American Society of Pain Management Nurses
Sarah R Brand, Karen Fasciano, Jennifer W Mack
PURPOSE: The American Academy of Pediatrics recommends that healthcare providers communicate information to patients in a truthful and developmentally appropriate manner. However, there is limited guidance about how to translate these recommendations into clinical practice. The aim of this study was to explore how young cancer patients experienced communication around their illness, especially communication about possible outcomes from disease or treatment. METHODS: Participants included young people ages 8 to under 18 years with cancer (N = 16)...
October 17, 2016: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
Larissa de Souza Siqueira, Hosana Alves Gonçalves, Lilian Cristine Hübner, Rochele Paz Fonseca
Introduction: The Hayling Test assesses the components of initiation, inhibition, cognitive flexibility and verbal speed by means of a sentence completion task. This study presents the process of developing the Brazilian version of the Child Hayling Test (CHT) and reports evidence of its content validity. Methods: 139 people took part in the study. The adaptation was performed by seven translators and 12 specialist judges. An initial sample of 92 healthy children was recruited to test a selection of sentences adapted from previous adult and pediatric versions of the instrument, and a sample of 28 healthy children was recruited for pilot testing of the final version...
July 2016: Trends in Psychiatry and Psychotherapy
Valerie Kimball
Primary care pediatricians spend a significant amount of time discussing and answering questions from parents regarding the behavior of their children. Although a majority of young children present with developmentally appropriate behavior, it is important that primary care pediatricians recognize concerning conduct that may be suggestive of a behavior or emotional disorder. It is important that social-emotional development is closely monitored in conjunction with physical and cognitive growth and development at each well visit...
October 1, 2016: Pediatric Annals
Matt S Hicks, Reginald S Sauve, Charlene M T Robertson, Ari R Joffe, Gwen Alton, Dianne Creighton, David B Ross, Ivan M Rebeyka
BACKGROUND: Developmental and language outcomes at 2 years of age of children who had arterial switch operation (ASO) for transposition of the great arteries 2004-2010 are described. METHODS: In this prospective cohort study, 91/98 (93 %) children who underwent ASO were assessed at 2 years of age with the Bayley Scales of Infant & Toddler Development-3rd Edition. Outcomes were compared by patient and perioperative variables using bivariate and multivariate regression analyses to identify predictors of language delay...
2016: SpringerPlus
Reza Najafi, Mahin Hashemipour, Omid Yaghini, Fatemeh Najafi, Amirsalar Rashidianfar
CONTEXT: Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries. AIM: This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies...
September 2016: Indian Journal of Endocrinology and Metabolism
Ilkka Vuorimies, Heidi Arponen, Helena Valta, Outi Tiesalo, Marja Ekholm, Helena Ranta, Marjut Evälahti, Outi Mäkitie, Janna Waltimo-Sirén
Bisphosphonates have established their role as medical therapy for pediatric osteogenesis imperfecta (OI) patients. Since bisphosphonates have also been shown to delay tooth development in animal models, we aimed to assess whether the medication has a similar effect on children with OI. In this cross-sectional study, bisphosphonate-treated OI patients of whom dental panoramic tomograph was taken between 3 and 16years of age formed the study group. The patients, 22 in total, had been treated with pamidronate, zoledronic acid or risedronate for at least one year before the radiography...
October 7, 2016: Bone
Kaitlin Vollet, Erin N Haynes, Kim N Dietrich
Manganese (Mn) is both an essential micronutrient and potential neurotoxicant. This dual role underlies a growing body of literature demonstrating that Mn exhibits a biphasic dose-response relationship with neurocognitive outcomes. We reviewed recent epidemiologic studies from 2007 to 2016 that investigated the relationship between Mn exposure and cognitive outcomes across the lifespan: early life, school-aged children, and adulthood. In total, 27 research articles were included in this review: 12 pediatric and 15 adult studies (10 occupational and five environmental exposures)...
October 8, 2016: Current Environmental Health Reports
Kyoko Nagao, Tammy Riegner, Jennifer Padilla, L Ashleigh Greenwood, Jessica Loson, Sarah Zavala, Thierry Morlet
BACKGROUND: Although auditory processing disorder (APD) is a widely recognized impairment, its prevalence and demographic characteristics are not precisely known in the pediatric population. PURPOSE: To examine the demographic characteristics of children diagnosed with APD at a tertiary health-care facility and the prevalence of pediatric APD. RESEARCH DESIGN: A cross-sectional study. STUDY SAMPLE: A total of 243 children (149 boys and 94 girls) who were referred to the Nemours Audiology Clinics in the Delaware Valley for an APD evaluation...
October 2016: Journal of the American Academy of Audiology
Jeremy S Francis, Ireneusz Wojtas, Vladimir Markov, Steven J Gray, Thomas J McCown, R Jude Samulski, Larissa T Bilaniuk, Dah-Jyuu Wang, Darryl C De Vivo, Christopher G Janson, Paola Leone
Breakdown of neuro-glial N-acetyl-aspartate (NAA) metabolism results in the failure of developmental myelination, manifest in the congenital pediatric leukodystrophy Canavan disease caused by mutations to the sole NAA catabolizing enzyme aspartoacylase. Canavan disease is a major point of focus for efforts to define NAA function, with available evidence suggesting NAA serves as an acetyl donor for fatty acid synthesis during myelination. Elevated NAA is a diagnostic hallmark of Canavan disease, which contrasts with a broad spectrum of alternative neurodegenerative contexts in which levels of NAA are inversely proportional to pathological progression...
October 4, 2016: Neurobiology of Disease
J Alex Strahan, William H Walker, Taylor R Montgomery, Nancy G Forger
Minocycline, an antibiotic of the tetracycline family, inhibits microglia in many paradigms and is among the most commonly used tools for examining the role of microglia in physiological processes. Microglia may play an active role in triggering developmental neuronal cell death, although findings have been contradictory. To determine whether microglia influence developmental cell death, we treated perinatal mice with minocycline (45 mg/kg) and quantified effects on dying cells and microglial labeling using immunohistochemistry for activated caspase-3 (AC3) and ionized calcium-binding adapter molecule 1 (Iba1), respectively...
October 5, 2016: Developmental Neurobiology
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