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Developmental pediatrics

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https://www.readbyqxmd.com/read/28231580/pediatric-hangman-s-fracture-a-comprehensive-review
#1
Michael Montalbano, Christian Fisahn, Marios Loukas, Rod J Oskouian, Jens R Chapman, R Shane Tubbs
PURPOSE: Over 170 years ago, traumatic spondylolisthesis of the axis or hangman's fracture was described. Most descriptions of this entity have focused on adult presentations. METHODS: We review the literature on pediatric cases of hangman's fracture emphasizing the embryological as well as presentation aspects. RESULTS: The majority of cervical spine fractures in children occur at C1 and C2 vertebrae. A normal anterolisthesis of C2 can be seen in younger children and can mimic the anterolisthesis seen after traumatic spondylolisthesis...
February 24, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28229513/pathogenic-asxl1-somatic-variants-in-reference-databases-complicate-germline-variant-interpretation-for-bohring-opitz-syndrome
#2
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd, Eric V Minikel, Daniel P Birnbaum, Tatiana Tvrdik, Daniel G MacArthur, Rong Mao
The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. Exome sequencing of a six-year-old female patient with seizures, developmental delay, dysmorphic features and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS)...
February 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28229395/transcranial-magnetic-and-direct-current-stimulation-in-children
#3
REVIEW
Mustafa Q Hameed, Sameer C Dhamne, Roman Gersner, Harper L Kaye, Lindsay M Oberman, Alvaro Pascual-Leone, Alexander Rotenberg
Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28228882/renal-lymphangiomatosis-a-rare-differential-diagnosis-for-autosomal-recessive-polycystic-kidney-disease-in-pediatric-patients
#4
Amna A Kashgari, Nabil Ozair, Amin Al Zahrani, Mohammed O Al Otibi, Khalid Al Fakeeh
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics. Radiologist knowledge of the unique radiological features of this entity helps patient's safety in terms of management. We study the case of a 27-month-old boy presented to the emergency department with upper respiratory tract infection. He had a high blood pressure and had been diagnosed earlier with autosomal recessive polycystic kidney disease based on renal ultrasound findings...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28225462/validity-evidence-from-ratings-of-pediatric-interns-and-subinterns-on-a-subset-of-pediatric-milestones
#5
Teri L Turner, Vasudha L Bhavaraju, Ulana A Luciw-Dubas, Patricia J Hicks, Sara Multerer, Amanda Osta, Jennifer McDonnell, Sue Poynter, Daniel J Schumacher, Rebecca Tenney-Soeiro, Linda Waggoner-Fountain, Alan Schwartz
PURPOSE: To investigate evidence for validity of faculty members' pediatric milestone (PM) ratings of interns (first-year residents) and subinterns (fourth-year medical students) on nine subcompetencies related to readiness to serve as a pediatric intern in the inpatient setting. METHOD: The Association of Pediatric Program Directors Longitudinal Educational Assessment Research Network (APPD LEARN) and the National Board of Medical Examiners collaborated to investigate the utility of assessments of the PMs for trainees' performance...
February 21, 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28224400/multimodality-imaging-of-pediatric-airways-disease-indication-and-technique
#6
REVIEW
Nicola Stagnaro, Francesca Rizzo, Michele Torre, Giuseppe Cittadini, GianMichele Magnano
Congenital and acquired airway anomalies represent a relatively common albeit diagnostic and therapeutic challenge, even for the most skilled operators in dedicated centers. Airway malformations encompass a wide spectrum of pathologies involving the larynx, trachea and bronchi, esophagus, mediastinal vessels. These developmental lesions are often isolated but the association of two or more anomalies is not infrequent. From the traditional chest X-ray to the newest applications of Optical Coherence Tomography, non- or mini-invasive diagnostic techniques represent useful tools to integrate invasive procedures...
February 21, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28213605/2017-recommendations-for-preventive-pediatric-health-care
#7
(no author information available yet)
The 2017 Recommendations for Preventive Pediatric Health Care (Periodicity Schedule) have been approved by the American Academy of Pediatrics (AAP) and represents a consensus of AAP and the Bright Futures Periodicity Schedule Workgroup. Each child and family is unique; therefore, these recommendations are designed for the care of children who are receiving competent parenting, have no manifestations of any important health problems, and are growing and developing in a satisfactory fashion. Developmental, psychosocial, and chronic disease issues for children and adolescents may require frequent counseling and treatment visits separate from preventive care visits...
February 17, 2017: Pediatrics
https://www.readbyqxmd.com/read/28205374/developmental-pharmacokinetics-of-sirolimus-implications-for-precision-dosing-in-neonates-and-infants-with-complicated-vascular-anomalies
#8
Tomoyuki Mizuno, Tsuyoshi Fukuda, Chie Emoto, Paula S Mobberley-Schuman, Adrienne M Hammill, Denise M Adams, Alexander A Vinks
BACKGROUND: Sirolimus has recently been shown to be efficacious and tolerable in pediatric patients with complicated vascular anomalies. Nevertheless, dosing information remains very limited especially for neonates and infants. The purpose of this study was to develop an age-appropriate sirolimus starting dosing regimen based on the developmental changes in drug elimination capacity using data collected in neonates and infants. PROCEDURE: A recently developed sirolimus maturation model [Emoto et al...
February 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28202204/expedited-partner-therapy-a-review-for-the-pediatric-nurse-practitioner
#9
Lauren M Hopson, Sabrina Opiola McCauley
The rate of sexually transmitted infections in the United States increased in 2015 for the second year in a row. Adolescents bear an undue portion of this burden because of increased physiologic susceptibility, higher rates of reinfection, and developmental age. Despite expedited partner therapy (EPT) being legalized in 39 states, health care providers still report infrequently providing EPT to their adolescent patients. Patients who benefit most from EPT include those with high-risk sexual behavior, a steady relationship status, higher education level, or an established relationship with the provider...
February 12, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28193567/genomic-analysis-of-adult-b-all-identifies-potential-markers-of-shorter-survival
#10
Shiven Patel, Clinton C Mason, Martha J Glenn, Christian N Paxton, Sara T South, Melissa H Cessna, Julie Asch, Erin F Cobain, Dale L Bixby, Lauren B Smith, Shalini Reshmi, Julie M Gastier-Foster, Joshua D Schiffman, Rodney R Miles
B lymphoblastic leukemia (B-ALL) in adults has a higher risk of relapse and lower long-term survival than pediatric B-ALL, but data regarding genetic prognostic biomarkers are much more limited for adult patients. We identified 70 adult B-ALL patients from three institutions and performed genome-wide analysis via single nucleotide polymorphism (SNP) arrays on DNA isolated from their initial diagnostic sample and, when available, relapse bone marrow specimens to identify recurring copy number alterations (CNA)...
February 3, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28186713/fetal-alcohol-research-caring-for-patients-with-prenatal-alcohol-exposure-a-needs-assessment
#11
Vincent C Smith, Phillip Matthias, Yasmin N Senturias, Renee M Turchi, Janet F Williams
BACKGROUND: Prenatal alcohol exposure (PAE) is the United States' most common preventable cause of birth defects and intellectual and developmental disabilities collectively referred to as Fetal Alcohol Spectrum Disorders (FASD). OBJECTIVES: This study was designed to identify gaps in pediatric providers' knowledge and practices regarding FASD patient identification, diagnosis, management and referral, and to inform needs-based FASD resource development. METHODS: Pediatric providers (pediatricians, trainees, nurse practitioners) were exposed to survey links embedded in newsletters electronically distributed to the membership of two national professional societies...
January 27, 2017: Journal of Population Therapeutics and Clinical Pharmacology
https://www.readbyqxmd.com/read/28180025/constitutional-epi-genetic-conditions-genetic-epigenetic-and-environmental-factors
#12
REVIEW
Laila C Schenkel, David Rodenhiser, Victoria Siu, Elizabeth McCready, Peter Ainsworth, Bekim Sadikovic
There are more than 4,000 phenotypes for which the molecular basis is at least partly known. Though defects in primary DNA structure constitute a major cause of these disorders, epigenetic disruption is emerging as an important alternative mechanism in the etiology of a broad range of congenital and developmental conditions. These include epigenetic defects caused by either localized (in cis) genetic alterations or more distant (in trans) genetic events but can also include environmental effects. Emerging evidence suggests interplay between genetic and environmental factors in the epigenetic etiology of several constitutional "epi/genetic" conditions...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28179122/introduction-to-the-special-issue-developmental-neurotoxicity-associated-with-pediatric-general-anesthesia-preclinical-findings
#13
EDITORIAL
Vesna Jevtovic-Todorovic, Merle G Paule
No abstract text is available yet for this article.
February 4, 2017: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/28171696/predicting-changes-in-adaptive-functioning-and-behavioral-adjustment-following-treatment-for-a-pediatric-brain-tumor-a-report-from-the-brain-radiation-investigative-study-consortium
#14
Kristen R Hoskinson, Kelly R Wolfe, Keith Owen Yeates, E Mark Mahone, Kim M Cecil, M Douglas Ris
OBJECTIVE: Children are at risk for behavioral and adaptive difficulties following pediatric brain tumor. This study explored whether familial/demographic, developmental, diagnostic, or treatment-related variables best predict post-treatment behavioral and adaptive functioning. METHODS: Participants included 40 children (mean age = 12.76 years, SD = 4.01) post-treatment (mean time since diagnosis = 1.99 years, SD = 0.21) for pediatric brain tumor...
February 7, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28166998/isolated-tracheoesophageal-fistula-versus-esophageal-atresia-early-morbidity-and-short-term-outcome-a-single-institution-series
#15
R B Tröbs, W Finke, M Bahr, C Roll, M Nissen, M R Vahdad, G Cernaianu
PURPOSE: We compared the postnatal course, morbidity and early results after repair for cases of isolated or "pure" TEF with those for cases of esophageal atresia (EA) with distal tracheoesophageal fistula (TEF). METHODS: Twenty-four consecutive infants were divided into two groups: isolated TEF [TEF group] (n = 5) and EA with distal TEF [EA group] (n = 19). RESULTS: A high rate of prematurity (29%) and major cardiac and other surgically-relevant malformations (0...
March 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28163912/the-benefits-of-youth-are-lost-on-the-young-cardiac-arrest-patient
#16
REVIEW
Brian Griffith, Patrick Kochanek, Cameron Dezfulian
Children and young adults tend to have reduced mortality and disability after acquired brain injuries such as trauma or stroke and across other disease processes seen in critical care medicine. However, after out-of-hospital cardiac arrest (OHCA), outcomes are remarkably similar across age groups. The consistent lack of witnessed arrests and a high incidence of asphyxial or respiratory etiology arrests among pediatric and young adult patients with OHCA account for a substantial portion of the difference in outcomes...
2017: F1000Research
https://www.readbyqxmd.com/read/28161526/low-fertility-preservation-utilization-among-transgender-youth
#17
Leena Nahata, Amy C Tishelman, Nicole M Caltabellotta, Gwendolyn P Quinn
PURPOSE: Research demonstrates a negative psychosocial impact of infertility among otherwise healthy adults, and distress among adolescents facing the prospect of future infertility due to various medical conditions and treatments that impair reproductive health. Guidelines state that providers should counsel transgender youth about potential infertility and fertility preservation (FP) options prior to initiation of hormone therapy. The purpose of this study was to examine the rates of fertility counseling and utilization of FP among a cohort of adolescents with gender dysphoria seen at a large gender clinic...
February 1, 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/28160896/patient-centered-care-to-address-barriers-for-pregnant-women-with-opioid-dependence
#18
REVIEW
Mary Beth Sutter, Sarah Gopman, Lawrence Leeman
Pregnant women affected by substance use often encounter barriers to treatment, including housing insecurity, poverty, mental health issues, social stigma, and access to health care. Providers may lack the resources needed to provide quality care. Clinicians offering prenatal care to women with substance use disorder are encouraged to support family-centered, multidisciplinary care to women and their infants, focusing on harm reduction. Collaboration between providers of maternity care, substance abuse treatment, case management, family primary care, and pediatric developmental care can improve outcomes during pregnancy and through the early years of parenting...
March 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28151703/the-child-behavior-checklist-obsessive-compulsive-subscale-detects-severe-psychopathology-and-behavioral-problems-among-school-aged-children
#19
Laura O Saad, Maria C do Rosario, Raony C Cesar, Marcelo C Bastituzzo, Marcelo Q Hoexter, Gisele G Manfro, Roseli G Shavitt, James F Leckman, Eurípedes C Miguel, Pedro G Alvarenga
OBJECTIVE: The aims of this study were (1) to assess obsessive-compulsive symptoms (OCS) dimensionally in a school-aged community sample and to correlate them with clinical and demographical variables; (2) to determine a subgroup with significant OCS ("at-risk for OCD") using the Child Behavior Checklist (CBCL-OCS) and (3) to compare it with the rest of the sample; (4) To review the CBCL-OCS subscale properties as a screening tool for pediatric OCD. METHODS: Data from the Brazilian High Risk Cohort were analyzed...
February 2, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28150269/applications-of-digital-technology-for-the-morphological-study-of-c3-c7-vertebral-arch-pedicle-in-children
#20
S Zhang, X Wang, X Ren, Z Li, Y Zhang
BACKGROUND: This study aims to investigate the morphological characteristics and developmental patterns of the vertebral arch pedicle (VAP) in the lower cervical vertebrae of children, and to subsequently help guide the implantation of the pedicle screw. METHODS: The cervical vertebral multi-slice computed tomography (MSCT) data of 60 pediatric patients aged 4 to 12 years were collected and grouped. A reconstructed 3D model measured the following: pedicle width (PW), pedicle height (PH), pedicle osseous channel (POCL), pedicle transverse angle (PTA, namely the E angle), and pedicle sagittal angle (PTA, namely the F angle)...
February 2, 2017: Folia Morphologica (Warsz)
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