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Pediatric Syndromes

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https://www.readbyqxmd.com/read/28229513/pathogenic-asxl1-somatic-variants-in-reference-databases-complicate-germline-variant-interpretation-for-bohring-opitz-syndrome
#1
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
#2
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/28229031/characterization-of-sleep-architecture-in-down-syndrome-patients-pre-and-post-airway-surgery
#3
Mark Mims, Prasad John Thottam, Dennis Kitsko, Amber Shaffer, Sukgi Choi
OBJECTIVES: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. STUDY DESIGN: The study was a retrospective review. METHODS: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children's hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test...
January 17, 2017: Curēus
https://www.readbyqxmd.com/read/28225424/committee-opinion-no-689-delivery-of-a-newborn-with-meconium-stained-amniotic-fluid
#4
(no author information available yet)
In 2006, the American Academy of Pediatrics and the American Heart Association published the 2005 guidelines on neonatal resuscitation. Before the 2005 guidelines, management of a newborn with meconium-stained amniotic fluid included suctioning of the oropharynx and nasopharynx on the perineum after the delivery of the head but before the delivery of the shoulders. The 2005 guidelines did not support this practice because routine intrapartum suctioning does not prevent or alter the course of meconium aspiration syndrome in vigorous newborns...
March 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28225419/committee-opinion-no-689-summary-delivery-of-a-newborn-with-meconium-stained-amniotic-fluid
#5
(no author information available yet)
In 2006, the American Academy of Pediatrics and the American Heart Association published the 2005 guidelines on neonatal resuscitation. Before the 2005 guidelines, management of a newborn with meconium-stained amniotic fluid included suctioning of the oropharynx and nasopharynx on the perineum after the delivery of the head but before the delivery of the shoulders. The 2005 guidelines did not support this practice because routine intrapartum suctioning does not prevent or alter the course of meconium aspiration syndrome in vigorous newborns...
March 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28222777/identification-of-somatic-and-germ-line-dicer1-mutations-in-pleuropulmonary-blastoma-cystic-nephroma-and-rhabdomyosarcoma-tumors-within-a-dicer1-syndrome-pedigree
#6
Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S Pitiot, Marta G Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay, Milagros Balbín
BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples...
February 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28222035/nutritional-status-and-metabolic-profile-in-neurologically-impaired-pediatric-surgical-patients
#7
Gloria Pelizzo, Valeria Calcaterra, Veronica Carlini, Mario Fusillo, Matteo Manuelli, Catherine Klersy, Noemi Pasqua, Elona Luka, Riccardo Albertini, Mara De Amici, Hellas Cena
BACKGROUND: Malnutrition is reported in pediatric neuromotor disability and impacts the child's health. We described the nutritional and metabolic status in neurologically impaired (NI) children undergoing surgery. METHODS: Anthropometry, body composition, hormonal and nutritional evaluations were performed in 44 NI subjects (13.7±8.0 years). Energy needs were calculated by Krick's formula. Metabolic syndrome (MS) was defined applying the following criteria (≥3 defined MS): fasting blood glucose >100 mg/dL and/or homeostasis model assessment for insulin resistance (HOMA-IR) >97...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28217170/neuroblastoma-presenting-as-opsoclonus-myoclonus-a-series-of-six-cases-and-review-of-literature
#8
Jagdish P Meena, Rachna Seth, Biswaroop Chakrabarty, Sheffali Gulati, Sandeep Agrawala, Priyanka Naranje
The opsoclonus-myoclonus ataxia syndrome (OMAS) also called "Kinsbourne syndrome" or "dancing eye syndrome" is a rare but serious disorder characterized by opsoclonus, myoclonus, and ataxia, along with extreme irritability and behavioural changes. Data on its epidemiology, clinical features, and outcome are limited worldwide. The aim of the study was to evaluate the clinical profile and outcome of children with OMAS. A retrospective data of all children presented to Pediatric oncology clinic with a diagnosis of opsoclonus-myoclonus from 2013 to 2016 were collected...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28217155/acute-bulbar-palsy-plus-syndrome-a-rare-variant-of-guillain-barre-syndrome
#9
Sanghamitra Ray, Prakash Chand Jain
Guillain-Barre syndrome (GBS) is the most common cause of acute flaccid paralysis worldwide both in adult and pediatric population. Although flaccid paralysis is the hallmark of this disease, there are some rare variants which may be easily missed unless suspected. Here, we present a very rare variant of GBS - acute bulbar palsy plus syndrome in a pediatric patient. A 13-year-old female child presented with right-sided lower motor neuron type of facial palsy and palsy of bilateral glossopharyngeal and vagus nerve of 2 weeks duration...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28215268/periodic-limb-movements-and-restless-legs-syndrome-in-children-with-a-history-of-prematurity
#10
Christopher M Cielo, Lourdes M DelRosso, Ignacio E Tapia, Sarah N Biggs, Gillian M Nixon, Lisa J Meltzer, Joel Traylor, Ji Young Kim, Carole L Marcus
INTRODUCTION: Little is known about the pediatric population at an increased risk of restless legs syndrome (RLS) and periodic limb movement disorder (PLMD). Polysomnographic data from the Caffeine for Apnea of Prematurity-Sleep (CAPS) study showed a high prevalence of elevated periodic limb movement index (PLMI) in a cohort of ex-preterm children, but the clinical importance of this finding, such as association with RLS, is unknown. We hypothesized that ex-preterm children would have a high prevalence of RLS and PLMD...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28215263/sleep-disordered-breathing-systemic-adipokine-secretion-and-metabolic-dysregulation-in-overweight-and-obese-children-and-adolescents
#11
Annelies Van Eyck, Kim Van Hoorenbeeck, Benedicte Y De Winter, Luc Van Gaal, Wilfried De Backer, Stijn L Verhulst
OBJECTIVE: Obstructive sleep apnea (OSA) is common among overweight and obese children, and it is an independent risk factor for developing metabolic syndrome. However, the mechanisms linking OSA and metabolic syndrome are still unclear, but a role for adipose tissue dysfunction caused by intermittent hypoxia has been suggested. Therefore, the goal of this study was to investigate the relationship between OSA and systemic adipokine concentrations in overweight and obese children. METHODS: We included 164 overweight and obese children in a tertiary center and distributed them in groups based on their obstructive apnea-hypopnea index (111 controls, 28 mild OSA, 25 moderate-to-severe OSA)...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28215250/prevalence-and-quality-of-life-and-sleep-in-children-and-adolescents-with-restless-legs-syndrome-willis-ekbom-disease
#12
Heidi Haueisen Sander, Alan Luiz Eckeli, Afonso Diniz Costa Passos, Leila Azevedo, Lucila Bizari Fernandes do Prado, Regina Maria França Fernandes
OBJECTIVE: To estimate the prevalence of restless legs syndrome/Willis-Ekbom disease (RLS/WED) and its impact on sleep and quality of life in children and adolescents. METHODS: This was a cross-sectional study conducted in the Municipality of Cássia dos Coqueiros, Brazil. Participants included 383 children and adolescents 5-17 years of age. A comparison group was randomly matched by gender and age with the RLS/WED-affected individuals, pairing one by one. RESULTS: Interviews were conducted for 383 individuals by a neurologist experienced in sleep medicine...
February 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28213806/clinical-ugt1a1-genetic-analysis-in-pediatric-patients-experience-of-a-reference-laboratory
#13
Ann M Moyer, Jennifer M Skierka, Katrina E Kotzer, Michelle L Kluge, John L Black, Linnea M Baudhuin
BACKGROUND: Neonatal hyperbilirubinemia can be severe or prolonged and warrant exploration into the underlying etiology, which may include genetic assessment of UGT1A1 for inherited disorders (i.e. Crigler-Najjar syndrome or Gilbert syndrome). METHODS: In our reference laboratory, we performed UGT1A1 gene sequencing analysis on 346 pediatric patients referred for a clinical indication of hyperbilirubinemia. RESULTS: Males (n = 241) had significantly higher mean total bilirubin concentration compared to females (n = 105) (9...
February 17, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28213747/bone-morphogenetic-protein-2-for-the-treatment-of-congenital-pseudarthrosis-of-the-tibia-or-persistent-tibial-nonunion-in-children-and-adolescents-a-retrospective-study-with-a-minimum-2-year-follow-up
#14
Tim N Hissnauer, Norbert Stiel, Kornelia Babin, Martin Rupprecht, Michael Hoffmann, Johannes M Rueger, Ralf Stuecker, Alexander S Spiro
There is a lack of studies reporting on rhBMP-2 application in pediatric orthopaedics, although few reports demonstrated promising results of the use of rhBMP-2 in children, especially for spine fusion and for the treatment of congenital pseudarthrosis of the tibia. The objectives of this study were (1) to examine clinical and radiographic healing after rhBMP-2 application for the treatment of congenital pseudarthrosis of the tibia (CPT) or persistent tibial nonunion in children and adolescents, and (2) to investigate the safety of rhBMP-2 use in these cases...
April 2017: Journal of Materials Science. Materials in Medicine
https://www.readbyqxmd.com/read/28213687/ofatumumab-for-the-treatment-of-childhood-nephrotic-syndrome
#15
Chia-Shi Wang, Rochelle Schmidt Liverman, Rouba Garro, Roshan Punnoose George, Anastacia Glumova, Alana Karp, Stephanie Jernigan, Barry Warshaw
BACKGROUND: Ofatumumab is a humanized anti-CD20 monoclonal antibody that has recently garnered interest as a potential therapeutic agent for nephrotic syndrome. We report our center's experience in administering ofatumumab to five pediatric patients with idiopathic nephrotic syndrome. METHODS: Between March 2015 and November 2016, five patients were treated with ofatumumab. One patient had post-transplant recurrent focal segmental glomerulosclerosis (FSGS) which had been resistant to plasmapheresis and numerous immunosuppressive agents...
February 17, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28212480/-reintervention-with-percutaneous-balloon-angioplasty-in-patients-with-congenital-heart-disease-with-left-sided-obstructions
#16
Horacio Márquez-González, Diana López-Gallegos, Nataly Alejandra Pérez-Velázquez, Lucelli Yáñez-Gutiérrez
BACKGROUND: Left-sided cardiac obstructions represent 15% of congenital heart disease (CHD). The treatment in adults is surgical; however, balloon dilation by interventional catheterization can alleviate the symptoms in pediatric patients to allow them to reach the target height. The aim was to determine the survival and the factors associated with reintervention in patients with CHD with left-sided obstruction treated with balloon angioplasty. METHODS: A cohort study was conducted in patients aged 4 to 17 years with left-sided heart obstruction (valvular stenosis [VS], supravalvular aortic stenosis [SAS], coarctation of the aorta [CA]) successfully treated with balloon angioplasty...
2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28212163/multiple-organ-dysfunction-in-children-mechanically-ventilated-for-acute-respiratory-failure
#17
Scott L Weiss, Lisa A Asaro, Heidi R Flori, Geoffrey L Allen, David Wypij, Martha A Q Curley
OBJECTIVES: The impact of extrapulmonary organ dysfunction, independent from sepsis and lung injury severity, on outcomes in pediatric acute respiratory failure is unclear. We sought to determine the frequency, timing, and risk factors for extrapulmonary organ dysfunction and the independent association of multiple organ dysfunction syndrome with outcomes in pediatric acute respiratory failure. DESIGN: Secondary observational analysis of the Randomized Evaluation of Sedation Titration for Respiratory Failure cluster-randomized prospective clinical trial conducted between 2009 and 2013...
February 16, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28211643/postural-analysis-in-a-pediatric-cohort-of-patients-with-ehlers-danlos-syndrome-a-pilot-study
#18
Claudio Lisi, Serena Monteleone, Carmine Tinelli, Berardo Rinaldi, Giuseppe Di Natali, Salvatore Savasta
BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Therefore, our work aims to assess the occurrence of these alterations in a pediatric cohort of EDS patients...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28209311/mri-findings-of-optic-pathway-involvement-in-miller-fisher-syndrome-in-3-pediatric-patients-and-a-review-of-the-literature
#19
Ajay Malhotra, Mia Zhang, Xiao Wu, Shanu Jindal, David Durand, Naila Makhani
BACKGROUND: Miller Fisher syndrome (MFS) is a rare demyelinating condition which may have involvement of cranial nerves. There are a few case reports of optic pathway involvement in children. We describe 3 patients with optic pathway enhancement in pediatric patients with MFS. CASE SERIES: We retrospectively reviewed brain imaging findings in 17 pediatric patients with of Guillain-Barré syndrome (GBS) meeting Brighton criteria who had brain MRIs performed during their acute illness...
February 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28207965/is-colchicine-more-effective-to-prevent-pfapa-episodes-in-mefv-variants
#20
Muhammed Gunes, Sukru Cekic, Sara Sebnem Kilic
BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized with fever episodes lasting for about three to six days, once every three to eight weeks. METHODS: Clinical and laboratory data of patients with PFAPA syndrome between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. RESULTS: Four-hundred children (256 male, 144 female), the mean age at diagnosis was 4...
February 16, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
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