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Pediatric neurology

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https://www.readbyqxmd.com/read/28343240/childhood-angular-kyphosis-a-plea-for-involvement-of-the-pediatric-neurosurgeon
#1
E Cornips, S Koudijs, J Vles, L van Rhijn
INTRODUCTION: Childhood angular kyphosis is rare, as most children are affected by a mixed kyphotic and scoliotic deformity. Published series involving a mix of kyphosis and kyphoscoliosis, pediatric and adult, congenital and acquired cases are almost exclusively authored by orthopedic surgeons, suggesting that (pediatric) neurosurgeons are not involved. CASE SERIES: We present five cases that illustrate the spectrum of angular kyphosis, and these were treated by a multidisciplinary team including child neurologist, orthopedic surgeon, and pediatric neurosurgeon as complementary partners...
March 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28338570/a-case-of-all-developing-posterior-reversible-encephalopathy-secondary-to-hyponatremia
#2
Nilgun Eroglu, Aysenur Bahadir, Erol Erduran
Posterior reversible encephalopathy syndrome (PRES), may be due to different causes. It may develop secondary to hypertension, renal decompensation, electrolyte imbalance, and chemotherapeutic drugs. We describe a case of acute lymphoblastic leukemia in which PRES developed secondary to hyponatremia despite being normotensive during receipt of chemotherapy. Magnetic resonance imaging findings were suggestive of PRES. Partial diffusion restriction was observed in lesions in the bilateral occipitoparietal regions and the cerebellum...
March 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28336681/accuracy-and-reliability-of-stroke-diagnosis-in-the-pediatric-emergency-department
#3
Mark T Mackay, Adriana Yock-Corrales, Leonid Churilov, Paul Monagle, Geoffrey A Donnan, Franz E Babl
BACKGROUND AND PURPOSE: Access to acute stroke interventions in the emergency department (ED) relies on correct clinical diagnosis. Our aims were to determine the accuracy and reliability of pediatric ED physician diagnosis of childhood stroke and other conditions presenting with brain attack symptoms. METHODS: Prospective study of consecutive children aged 1 month to 18 years presenting to the ED from June 2009 to December 2010 with focal neurological deficits...
March 23, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28336156/pediatric-arterial-ischemic-stroke-epidemiology-risk-factors-and-management
#4
Ryan J Felling, Lisa R Sun, Emily C Maxwell, Neil Goldenberg, Timothy Bernard
Pediatric arterial ischemic stroke (AIS) is an uncommon but important cause of neurologic morbidity in neonates and children, with consequences including hemiparesis, intellectual disabilities, and epilepsy. The causes of pediatric AIS are unique to those typically associated with stroke in adults. Familiarity with the risk factors for AIS in children will help with efficient diagnosis, which is unfortunately frequently delayed. Here we review the epidemiology and risk factors for AIS in neonates and children...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28333917/a-clinical-utility-study-of-exome-sequencing-versus-conventional-genetic-testing-in-pediatric-neurology
#5
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner, Simone van der Burg, Janneke Grutters, Joris A Veltman, Michèl A A P Willemsen
PURPOSE: Implementation of novel genetic diagnostic tests is generally driven by technological advances because they promise shorter turnaround times and/or higher diagnostic yields. Other aspects, including impact on clinical management or cost-effectiveness, are often not assessed in detail prior to implementation. METHODS: We studied the clinical utility of whole-exome sequencing (WES) in complex pediatric neurology in terms of diagnostic yield and costs. We analyzed 150 patients (and their parents) presenting with complex neurological disorders of suspected genetic origin...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28330737/optimizing-the-assessment-of-pediatric-injury-severity-in-low-resource-settings-consensus-generation-through-a-modified-delphi-analysis
#6
Etienne St-Louis, Dan Leon Deckelbaum, Robert Baird, Tarek Razek
INTRODUCTION: Although a plethora of pediatric injury severity scoring systems is available, many of them present important challenges and limitations in the low resource setting. Our aim is to generate consensus among a group of experts regarding the optimal parameters, outcomes, and methods of estimating injury severity for pediatric trauma patients in low resource settings. MATERIALS AND METHODS: A systematic review of the literature was conducted to identify and compare existing injury scores used in pediatric patients...
March 15, 2017: Injury
https://www.readbyqxmd.com/read/28329394/intermediate-follow-up-of-pediatric-patients-with-hemolytic-uremic-syndrome-during-the-2011-outbreak-caused-by-e-coli-o104-h4
#7
Sebastian Loos, Wiebke Aulbert, Bernd Hoppe, Thurid Ahlenstiel-Grunow, Birgitta Kranz, Charlotte Wahl, Hagen Staude, Alexander Humberg, Kerstin Benz, Martin Krause, Martin Pohl, Max C Liebau, Raphael Schild, Johanna Lemke, Ortraud Beringer, Dominik Müller, Christoph Härtel, Marianne Wigger, Udo Vester, Martin Konrad, Dieter Haffner, Lars Pape, Jun Oh, Markus J Kemper
Background.: In 2011 Escherichia coli O104:H4 caused an outbreak with over 800 cases of hemolytic uremic syndrome (HUS) in Germany, including 90 children. Data on the intermediate outcome in children after HUS due to E. coli O104:H4 have been lacking. Methods.: Follow-up data were gathered retrospectively from the medical records of patients who had been included in the German Pediatric HUS Registry during the 2011 outbreak. Results.: A total of 72/89 (81%) of the patients was included after a median follow-up of 3...
March 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28328788/early-presence-of-sleep-spindles-on-electroencephalography-is-associated-with-good-outcome-after-pediatric-cardiac-arrest
#8
Laurence Ducharme-Crevier, Craig A Press, Jonathan E Kurz, Michele G Mills, Joshua L Goldstein, Mark S Wainwright
OBJECTIVES: The role of sleep architecture as a biomarker for prognostication after resuscitation from cardiac arrest in children hospitalized in an ICU remains poorly defined. We sought to investigate the association between features of normal sleep architecture in children after cardiac arrest and a favorable neurologic outcome at 6 months. DESIGN: Retrospective review of medical records and continuous electroencephalography monitoring. SETTING: Cardiac and PICU of a tertiary children's hospital...
March 21, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28327376/maternal-m%C3%A3-llerian-anomalies-and-future-health-of-the-offspring
#9
Adva Cahen-Peretz, Asnat Walfisch, Michael Friger, Eyal Sheiner
OBJECTIVE: To evaluate whether offspring of women with müllerian anomalies are at an increased risk for long-term pediatric morbidity. STUDY DESIGN: A population-based cohort study compared the incidence of long-term (up to the age of 18 years for offspring) hospitalizations due to cardiovascular, endocrine, neurological, hematological, respiratory and urinary morbidity of offspring to mothers diagnosed with uterine anomalies. Deliveries occurred between the years 1991 and 2013 in a tertiary medical center...
March 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28326208/a-child-as-a-donor-for-hematopoietic-stem-cell-transplantation-bioethical-justification-a-case-study-on-sickle-cell-disease
#10
Andrea Z Pereira, Ricardo Hellman, Nelson Hamerschlak, Andrea Kondo, Polianna Mara Rodrigues de Souza, Wilson Leite Pedreira, Luiz Fernando Alves Lima Mantovani, Eduardo Juan Troster, Henrique Grunspun, Marco Aurélio Scarpinella Bueno
Hematopoietic stem cell transplantation (HSCT) is an important treatment option for children with severe and refractory sickle cell disease (SCD) with debilitating clinical complications. HSCT with cells from the bone marrow of a HLA-identical sibling used in SCD has a low mortality risk, high cure rate, and high event-free survival rate after a median follow-up of 5-6 years. However, matched donors are found in only about 20% of the patients. A boy aged 8 years with SCD had a sister, <2 years old, a fully compatible donor...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28324682/gene-expression-analysis-in-untreated-absence-epilepsy-demonstrates-an-inconsistent-pattern
#11
Markus von Deimling, Robert Häsler, Verena Steinbach, Paul-Martin Holterhus, Sarah von Spiczak, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
OBJECTIVE: Childhood and Juvenile Absence Epilepsy account for 30% of all genetic generalized epilepsies with a strong genetic contribution. At the current state the genetic background remains to be resolved. The aim of this study was to identify disease associated transcripts pinpointing potential underlying disease mechanisms in patients with CAE and JAE. METHODS: We performed gene expression analysis from peripheral blood mononuclear cells (PBMCs) in 30 patients with newly-diagnosed absence epilepsy prior to initiating treatment and 30 healthy age - and gender-matched pediatric controls...
February 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28322606/cognitive-impairment-in-pediatric-onset-multiple-sclerosis-is-detected-by-the-brief-international-cognitive-assessment-for-multiple-sclerosis-and-computerized-cognitive-testing
#12
Leigh E Charvet, Michael Shaw, Ariana Frontario, Dawn Langdon, Lauren B Krupp
BACKGROUND: Cognitive impairment is a common and troubling feature of pediatric-onset multiple sclerosis (POMS). Brief cognitive assessment in the outpatient setting can identify and longitudinally monitor cognitive involvement so that early intervention is possible. OBJECTIVES: The goal of this study was to measure the sensitivity of two cognitive assessment approaches that are brief, repeatable, and suitable for clinical practice and for multicenter investigation...
March 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28322177/prevalence-estimate-of-cerebral-palsy-in-northern-alberta-births-2008-2010
#13
Charlene M T Robertson, M Florencia Ricci, Kathleen O'Grady, Maryam Oskoui, Helly Goez, Jerome Y Yager, John C Andersen
OBJECTIVES: The objectives of this study were to determine prevalence estimates of cerebral palsy (CP) among 5-year-old children in northern Alberta; to provide congenital, gestational age- and birth weight-specific, and postneonatal CP rates; and to describe motor subtypes and function. METHODS: This population-based prevalence estimate study, part of the Canadian Cerebral Palsy Registry, reports confirmed CP diagnoses at age 5 years made by pediatric rehabilitation and child neurology specialists...
March 21, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28322114/predictive-value-of-gjb2-mutation-status-for-hearing-outcomes-of-pediatric-cochlear-implantation
#14
Yasin Abdurehim, Alexandre Lehmann, Anthony G Zeitouni
Objective To systematically review and quantify current evidence regarding the association of GJB2 mutation status with outcomes of pediatric cochlear implantation. Data Sources PubMed, Embase, and the Cochrane Library were searched for "GJB2,"pediatric hearing loss," and "cochlear implantation" and their synonyms, with no language restrictions, until December 2, 2015. Review Methods Studies were included that investigated the status of GJB2 mutation and its predictive value for outcomes of pediatric cochlear implantation...
March 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28321388/association-of-atlanto-occipital-dislocation-retroclival-hematoma-and-hydrocephalus-management-and-survival-in-a-pediatric-patient
#15
Isaac L Lee, Luis F Vasquez, Alan H Tyroch, Todd T Trier
Atlanto-occipital dislocation (AOD) is an injury with high morbidity and mortality. We present a case of survival of a pediatric patient with the diagnoses of AOD, retroclival hematoma, and resulting hydrocephalus. The patient's cervical spine was stabilized until occipital-cervical fusion provided definitive treatment, and the hydrocephalus was treated with a ventriculostomy. The patient survived with no neurological deficits. A better understanding and awareness of the radiologic criteria of AOD will lead to earlier recognition of AOD and improved outcomes, even in the presence of complications from AOD...
January 2017: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/28320216/a-neurologic-dysfunction-scoring-protocol-for-jaundiced-neonates-requiring-exchange-transfusion
#16
Bolajoko O Olusanya, Folashade B Osibanjo, Adeniyi A Ajiboye, Oluwafemi E Ayodele, Adebanke A Odunsi, Serah M Olaifa, Abieyuwa A Emokpae
AIM: To evaluate the performance of a neurologic assessment protocol among jaundiced infants requiring exchange transfusion (ET). METHODS: We identified infants in a referral children's hospital who received ET and those who met the American Academy of Pediatrics (AAP) criteria for ET based on total serum bilirubin (TSB) levels. The performance of a bilirubin-induced neurologic dysfunction (BIND-M) scoring protocol for acute bilirubin encephalopathy (ABE) in detecting infants treated with ET in both groups was investigated by logistic regression analysis and c-statistic...
March 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#17
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28316855/central-nervous-system-involvement-in-henoch-schonlein-purpura-in-children-and-adolescents
#18
Iliyana H Pacheva, Ivan S Ivanov, Krastina Stefanova, Elena Chepisheva, Lyubov Chochkova, Dafina Grozeva, Angelina Stoyanova, Stojan Milenkov, Penka Stefanova, Anna Petrova
Central nervous system (CNS) involvement in Henoch-Schonlein purpura (HSP) is rare but poses diagnostic difficulties. The aim of the study was to establish the frequency of CNS involvement in HSP, to analyze its clinical characteristics and do a literature review. Medical files of patients with HSP admitted at the Department of Pediatrics, Plovdiv, were studied retrospectively for a five-year period (2009-2013). Diagnosis was based on the American College of Rheumatology criteria. Out of 112 children with HSP 1 case (0...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28306631/thermoregulate-autoregulate-and-ventilate-brain-directed-critical-care-for-pediatric-cardiac-arrest
#19
Jonathan E Kurz, Craig M Smith, Mark S Wainwright
PURPOSE OF REVIEW: Cardiac arrest in childhood is associated with a high risk for mortality and poor long-term functional outcome. This review discusses the current evidence for neuroprotective therapies and goals for postarrest care in the context of the pathophysiology of hypoxic-ischemic injury, modalities for neurologic prognostication in these children and potential future monitoring paradigms for maximizing cerebral perfusion in the postarrest period. RECENT FINDINGS: The recent publication of the in-hospital and out-of-hospital Therapeutic Hypothermia After Cardiac Arrest trials demonstrated a lack of statistically significant benefit for the use of postarrest therapeutic hypothermia...
March 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28306628/pediatric-spinal-cord-injury-without-radiographic-abnormality-in-the-era-of-advanced-imaging
#20
Caitlin A Farrell, Megan Hannon, Lois K Lee
PURPOSE OF REVIEW: The current review describes the current evidence on pediatric spinal cord injury without radiographic abnormality (SCIWORA) with attention to the definition, epidemiology, and clinical presentation of the condition, as well as common MRI findings, management strategies, and outcomes. RECENT FINDINGS: Recent literature demonstrates that with more widespread MRI use, our understanding of SCIWORA has improved. The new literature, although still limited, provides a more granular conceptualization of patterns of injury as well as potential prognostic stratification of patients based on MRI findings...
March 16, 2017: Current Opinion in Pediatrics
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