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Pediatric encephalopathy

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https://www.readbyqxmd.com/read/28173649/-a-novel-mutation-in-kcnb1-gene-in-a-child-with-neuropsychiatric-comorbidities-with-both-intellectual-disability-and-epilepsy-and-review-of-literature
#1
P Miao, J Peng, C Chen, N Gai, F Yin
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM)...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28166364/interrater-agreement-in-the-interpretation-of-neonatal-electroencephalography-in-hypoxic-ischemic-encephalopathy
#2
Courtney J Wusthoff, Joseph Sullivan, Hannah C Glass, Renée A Shellhaas, Nicholas S Abend, Taeun Chang, Tammy N Tsuchida
OBJECTIVE: Research using neonatal electroencephalography (EEG) has been limited by a lack of a standardized classification system and interpretation terminology. In 2013, the American Clinical Neurophysiology Society (ACNS) published a guideline for standardized terminology and categorization in the description of continuous EEG in neonates. We sought to assess interrater agreement for this neonatal EEG categorization system as applied by a group of pediatric neurophysiologists. METHODS: A total of 60 neonatal EEG studies were collected from three institutions...
February 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28157839/establishment-of-a-method-for-evaluating-endothelial-cell-injury-by-tnf-%C3%AE-in-vitro-for-clarifying-the-pathophysiology-of-virus-associated-acute-encephalopathy
#3
Kyohei Miyazaki, Koichi Hashimoto, Masatoki Sato, Masahiro Watanabe, Naoki Tomikawa, Shuto Kanno, Yukihiko Kawasaki, Nobuo Momoi, Mitsuaki Hosoya
BACKGROUND: Virus-associated acute encephalopathy (VAE) is a severe central nervous system complication caused by common viral infections in children. The pathophysiology of VAE is thought to be endothelial injury. This study was designed to establish an in vitro VAE model for evaluating endothelial injury caused by the proinflammatory cytokine TNF-α. METHODS: Transwell-grown human umbilical vein endothelial cells (HUVECs) monolayers were incubated with serially diluted TNF-α...
February 3, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28145649/clinical-characteristics-of-transplant-associated-encephalopathy-in-children
#4
Yun Jeong Lee, Mi Sun Yum, Eun Hee Kim, Min Jee Kim, Kyung Mo Kim, Ho Joon Im, Young Hwue Kim, Young Seo Park, Tae Sung Ko
We aimed to analyze characteristics of encephalopathy after both hematopoietic stem cell and solid organ pediatric transplantation. We retrospectively reviewed medical records of 662 pediatric transplant recipients (201 with liver transplantation [LT], 55 with heart transplantation [HT], and 67 with kidney transplantation [KT], 339 with allogeneic hematopoietic stem cell transplantation [HSCT]) who received their graft organs at Asan Medical Center between January 2000 and July 2014. Of the 662 patients, 50 (7...
March 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28141916/justifying-non-standard-exception-requests-for-pediatric-liver-transplant-candidates-an-analysis-of-narratives-submitted-to-the-united-network-for-organ-sharing-2009-2014
#5
Emily R Perito, Hillary J Braun, Jennifer L Dodge, Sue Rhee, John P Roberts
Non-standard exception requests (NSERs), for which transplant centers provide patient-specific narratives to support a higher MELD/PELD score, are made for > 30% of pediatric liver transplant candidates. We describe the justifications used in pediatric NSER narratives 2009-2014 and identify justifications associated with NSER denial, waitlist mortality, and transplant. Using UNOS data, 1,272 NSER narratives from 1,138 children with NSERs were coded for analysis. The most common NSER justifications were failure-to-thrive (48%) and risk of death (40%); both associated with approval...
January 31, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28141793/sex-specific-associations-between-cerebrovascular-blood-pressure-autoregulation-and-cardiopulmonary-injury-in-neonatal-encephalopathy-and-therapeutic-hypothermia
#6
Raul Chavez-Valdez, Matthew O'Connor, Jamie Perin, Michael Reyes, Jillian Armstrong, Charlamaine Parkinson, Maureen Gilmore, Jacky Jennings, Frances J Northington, Jennifer K Lee
BACKGROUND: Cardiopulmonary injury is common in neonatal encephalopathy, but the link with cerebrovascular dysfunction is unknown. We hypothesized that cerebral autoregulation is associated with cardiopulmonary injury in neonates treated with therapeutic hypothermia (TH) for neonatal encephalopathy. METHODS: The cerebral hemoglobin volume index (HVx) from near-infrared spectroscopy was used to identify the mean arterial blood pressure (MAP) with optimal autoregulatory vasoreactivity (MAPOPT)...
January 31, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28141600/preventing-pressure-injuries-in-neonates-undergoing-therapeutic-hypothermia-for-hypoxic-ischemic-encephalopathy-an-interprofessional-quality-improvement-project
#7
Alexandra Luton, Jae Hernandez, Clive Robert Patterson, Jill Nielsen-Farrell, Anita Thompson, Jeffrey R Kaiser
BACKGROUND: Hospital-acquired pressure injuries (HAPIs) can be caused by multiple factors including pressure, shear, friction, moisture/incontinence, device-related pressure, immobility, inactivity, and nutritional deficits. Along with immobility, medical device-related (MDR) HAPIs are a primary cause of pressure injury in neonates, as the clinical practice setting has become increasingly technologically advanced. It is estimated that up to 50% of HAPIs are MDR in pediatric patients. Neonates are at particular risk for HAPI because of their specific anatomical, physiological, and developmental vulnerabilities...
January 30, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/28123335/posterior-reversible-encephalopathy-syndrome-in-children-a-case-series
#8
Serhat Emeksiz, Nurettin Onur Kutlu, Hüseyin Çaksen, Gülsüm Alkan, Hülya Şeker Yıkmaz, Hüseyin Tokgöz
Posterior reversible encephalopathy syndrome is characterized by hypertension, seizure, headache, clouding of consciousness, and visual disturbance, and is diagnosed in the presence of typical lesions on magnetic resonance imaging. We retrospectively evaluated five patients who were diagnosed as having posterior reversible encephalopathy syndrome and followed up in Meram Medical Faculty, Pediatric Intensive Care and Hematology wards, between January 2010 and January 2014. We reviewed the demographic and clinical data, and neuroimaging findings...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28114647/clinical-characteristics-risk-factors-and-outcomes-associated-with-neonatal-hemorrhagic-stroke-a-population-based-case-control-study
#9
Lauran Cole, Deborah Dewey, Nicole Letourneau, Bonnie J Kaplan, Kathleen Chaput, Clare Gallagher, Jacquie Hodge, Amalia Floer, Adam Kirton
Importance: Hemorrhage into the brain of term newborns often results in major injury and lifelong disability. The clinical epidemiology of neonatal hemorrhagic stroke (NHS) remains undefined, hindering the development of strategies to improve outcomes. Objective: To characterize the incidence, types, presentations, associated factors, and outcomes of neonatal hemorrhagic stroke. Design, Setting, and Participants: Population-based, nested case-control study...
January 17, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28111909/profile-and-outcome-of-first-109-cases-of-pediatric-acute-liver-failure-at-a-specialized-pediatric-liver-unit-in-india
#10
Seema Alam, Rajeev Khanna, Vikrant Sood, Bikrant Bihari Lal, Dinesh Rawat
BACKGROUND AND AIMS: The outcome of Pediatric acute liver failure largely depends on age and etiology. The aim of this work was to study the etiological spectrum and outcome of the pediatric acute liver failure cases. METHODS: This prospective observational study included all children (< 18 years age) fulfilling pediatric acute liver failure study group definition. Etiological evaluation was done and predictive factors for poor outcome (death or liver transplantation) were analyzed...
January 23, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28111878/first-experience-of-the-aml-berlin-frankfurt-m%C3%A3-nster-group-in-pediatric-patients-with-standard-risk-acute-promyelocytic-leukemia-treated-with-arsenic-trioxide-and-all-trans-retinoid-acid
#11
Ursula Creutzig, Michael N Dworzak, Konrad Bochennek, Jörg Faber, Christian Flotho, Norbert Graf, Udo Kontny, Claudia Rossig, Irene Schmid, Arend von Stackelberg, Jans-Enno Mueller, Christine von Neuhoff, Dirk Reinhardt, Nils von Neuhoff
Recently, studies in adults with acute promyelocytic leukemia (APL) showed high cure rates in low-risk patients treated with all-trans retinoid acid (ATRA) and arsenic trioxide (ATO), while toxicities were significantly reduced compared to the standard treatment with ATRA and chemotherapy. Here we report about first experience with 11 pediatric patients with low-risk APL treated with ATRA and ATO. All patients stayed in molecular remission. All suffered from hyperleukocytosis. Two patients experienced reversible severe side effects...
January 23, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28104319/the-mexican-consensus-on-probiotics-in-gastroenterology
#12
M A Valdovinos, E Montijo, A T Abreu, S Heller, A González-Garay, D Bacarreza, M Bielsa-Fernández, M C Bojórquez-Ramos, F Bosques-Padilla, A I Burguete-García, R Carmona-Sánchez, A Consuelo-Sánchez, E Coss-Adame, J A Chávez-Barrera, M de Ariño, J Flores-Calderón, O Gómez-Escudero, M S González-Huezo, M E Icaza-Chávez, A Larrosa-Haro, M Morales-Arámbula, C Murata, J A Ramírez-Mayans, J M Remes-Troche, T Rizo-Robles, M Peláez-Luna, E M Toro-Monjaraz, A Torre, M E Urquidi-Rivera, R Vázquez, J K Yamamoto-Furusho, F Guarner
INTRODUCTION: Probiotics are frequently prescribed in clinical practice. Their efficacy in treating gastrointestinal disorders is supported by a significant number of clinical trials. However, the correct prescription of these agents is hampered due to a lack of knowledge of the scientific evidence and to the different presentations and microbial compositions of the probiotics that are currently available. AIM: To provide the clinician with a consensus review of probiotics and recommendations for their use in gastroenterology...
January 16, 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/28099429/vitamin-d-insufficiency-in-neonatal-hypoxic-ischemic-encephalopathy
#13
Danielle W Lowe, Bruce W Hollis, Carol L Wagner, Thomas Bass, David A Kaufman, Michael J Horgan, Laurence M Givelichian, Koravangatta Sankaran, Jerome Y Yager, Lakshmi D Katikaneni, Don Wiest, Dorothea Jenkins
BACKGROUND: Vitamin D has neuroprotective and immunomodulatory properties, and deficiency is associated with worse stroke outcomes. Little is known about effects of hypoxia-ischemia or hypothermia treatment on vitamin D status in neonates with hypoxic-ischemic encephalopathy (HIE). We hypothesized vitamin D metabolism would be dysregulated in neonatal HIE altering specific cytokines involved in Th17 activation, which might be mitigated by hypothermia. METHODS: We analyzed short term relationships between 25(OH) and 1,25(OH)2 vitamin D, vitamin D binding protein, and cytokines related to Th17 function in serum samples from a multicenter randomized controlled trial of hypothermia 33(0)C for 48h after HIE birth versus normothermia in 50 infants with moderate to severe HIE...
January 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28099423/high-dose-erythropoietin-population-pharmacokinetics-in-neonates-with-hypoxic-ischemic-encephalopathy-receiving-hypothermia
#14
Adam Frymoyer, Sandra E Juul, An N Massaro, Theo K Bammler, Yvonne W Wu
BACKGROUND: High-dose erythropoietin (Epo) is a promising neuroprotective treatment in neonates with hypoxic ischemic encephalopathy (HIE) receiving hypothermia. We evaluated the pharmacokinetics and dose-exposure relationships of high-dose Epo in this population to inform future dosing strategies. METHODS: We performed a population pharmacokinetic analysis of 47 neonates with HIE treated with hypothermia who received up to 6 doses of Epo in two previous clinical trials...
January 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28062149/prediction-of-neonatal-seizures-in-hypoxic-ischemic-encephalopathy-using-electroencephalograph-power-analyses
#15
Siddharth V Jain, Amit Mathur, Preethi Srinivasakumar, Michael Wallendorf, Joseph P Culver, John M Zempel
BACKGROUND: The severity of the initial encephalopathy in neonatal hypoxic-ischemic encephalopathy correlates with seizure burden. Early electroencephalograph (EEG) background activity reflects the severity of encephalopathy. Thus, we hypothesized that early EEG background would be predictive of subsequent seizures in neonatal hypoxic-ischemic encephalopathy. METHODS: This study included infants undergoing therapeutic hypothermia at St. Louis Children's Hospital between January 2009 and April 2013...
November 11, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28060109/posterior-reversible-encephalopathy-syndrome-and-cerebral-sinus-thrombosis-in-a-case-of-pediatric-b-cell-all
#16
Ellen Fraint, Robin Miller, Andrew Walter
Posterior reversible encephalopathy syndrome (PRES) and cerebral sinus thrombosis are 2 known complications of acute lymphoblastic leukemia and its treatment. We describe a patient with acute lymphoblastic leukemia whose course was complicated by both of these conditions. This case is novel both for the fact that PRES developed before the initiation of therapy and that PRES was followed shortly by the development of cerebral sinus thrombosis. Our patient's story raises questions about our current understanding of the pathophysiology of PRES, and it suggests that PRES may actually be a predisposing risk factor for cerebral sinus thrombosis...
March 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28042689/early-and-late-neurological-complications-of-liver-transplantation-in-pediatric-patients
#17
Serdal Gungor, Betul Kilic, Mujgan Arslan, M Ayse Selimoglu, Hamza Karabiber, Sezai Yilmaz
NCs occur commonly after solid organ transplantation and affect 15%-30% of liver transplant recipients. The aim of this retrospective study was to evaluate the type and incidence of neurologic events in pediatric patients following LT. Between May 2006 and June 2015, 242 patients (118 females, 124 males) requiring LT for different etiologies at the İnönü University Liver Transplantation Institute were included. The incidence, types, and risk factors of NCs that occurred following LT were evaluated retrospectively...
January 1, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28031453/acute-liver-failure-meets-soph-syndrome-a-case-report-on-an-intermediate-phenotype
#18
Fanny Kortüm, Iris Marquardt, Malik Alawi, Georg Christoph Korenke, Stephanie Spranger, Peter Meinecke, Kerstin Kutsche
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal recessively inherited ALF has shed light on the cause of a subgroup of fever-triggered pediatric ALF episodes...
January 2017: Pediatrics
https://www.readbyqxmd.com/read/28009765/autoimmune-encephalitides-a-broadening-field-of-treatable-conditions
#19
Bernadette Kalman
BACKGROUND: Neurology has been continuously transforming by the refinement of molecular diagnostics and the development of disease-modifying treatments. The discovery of new antibody markers has elucidated the pathogenesis, provided the means of diagnostics, and offered cure or treatment for several immune-mediated neurological and neuropsychiatric disorders. The identification of pathogenic and marker autoantibodies has also facilitated defining the associated phenotypic spectra and the overlap among the phenotypes linked to individual immune markers...
January 2017: Neurologist
https://www.readbyqxmd.com/read/28006936/pathophysiology-of-perinatal-hypoxic-ischemic-encephalopathy-biomarkers-animal-models-and-treatment-perspectives
#20
V Riljak, J Kraf, A Daryanani, P Jiruška, J Otáhal
Hypoxic-ischemic encephalopathy (HIE) is one of the leading pediatric neurological conditions causing long-term disabilities and socio-economical burdens. Nearly 20-50 % of asphyxiated newborns with HIE die within the newborn period and another third will develop severe health consequences and permanent handicaps. HIE is the result of severe systemic oxygen deprivation and reduced cerebral blood flow, commonly occurring in full-term infants. Hypoxic-ischemic changes trigger several molecular and cellular processes leading to cell death and inflammation...
December 22, 2016: Physiological Research
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