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Child neurology

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https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#1
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. Magnetic resonance imaging demonstrated unilateral cortical edema during a severe episode of hemiplegia that was followed by a persistent mild hemiparesis...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28808765/presentation-and-symptom-interval-in-children-with-central-nervous-system-tumors-a-single-center-experience
#2
Chiara Stocco, Chiara Pilotto, Eva Passone, Agostino Nocerino, Raffaello Tosolini, Anna Pusiol, Paola Cogo
PURPOSE: The aim of this study is to describe the symptoms and signs of central nervous system (CNS) tumors in a pediatric population and to assess the time interval between the onset of the disease and the time of the diagnosis. METHODS: A retrospective observational study was conducted at our Oncology Pediatric Unit between January 2000 and November 2011. We included 75 children between 5 months and 16 years (mean age of 7.8 ± 4.7 years), with male to female ratio of 3:2...
August 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28808172/child-neurology-childhood-basilar-artery-occlusion-and-stroke
#3
Mina Lobbous, Sara Williams, Salman Rashid
No abstract text is available yet for this article.
August 15, 2017: Neurology
https://www.readbyqxmd.com/read/28808084/glycopyrronium-for-severe-drooling-in-children
#4
(no author information available yet)
Drooling of saliva is common in children with physical, intellectual and learning disability, and with poor neuromuscular coordination and oral control.(1) It can cause skin breakdown, damage to clothes and equipment and psychosocial problems for the child and family. For many years, glycopyrronium has been prescribed off-label using the injection solution given orally or tablets crushed and suspended in water, or as unlicensed products that were imported or manufactured as pharmaceutical specials.(2,3) In January 2017, a glycopyrronium oral solution (Sialanar-Proveca Limited) became available in the UK as the first licensed product for the treatment of severe drooling (sialorrhoea) in children and adolescents aged 3 years and older with chronic neurological disorders...
August 2017: Drug and Therapeutics Bulletin
https://www.readbyqxmd.com/read/28807191/cognitive-and-motor-performance-in-congolese-children-with-konzo-during-4-years-of-follow-up-a-longitudinal-analysis
#5
Michael J Boivin, Daniel Okitundu, Bumoko Makila-Mabe, Marie-Therese Sombo, Dieudonne Mumba, Alla Sikorskii, Banea Mayambu, Desire Tshala-Katumbay
BACKGROUND: Konzo is an irreversible upper-motor neuron disorder affecting children dependent on bitter cassava for food. The neurocognitive ability of children with konzo over time has yet to be fully documented. METHODS: We did a longitudinal study in a konzo outbreak zone continuously affected by konzo since 1990, in the district of Kahemba, southern Bandundu Province, Congo. We enrolled children with a record of neurological diagnosis of konzo in Kahemba town...
September 2017: Lancet Global Health
https://www.readbyqxmd.com/read/28801223/limited-benefits-of-presymptomatic-cord-blood-transplantation-in-neurovisceral-acid-sphingomyelinase-deficiency-asmd-intermediate-type
#6
Oriane Mercati, Samia Pichard, Marie Ouachée, Roseline Froissart, Odile Fenneteau, Bastien Roche, Monique Elmaleh-Bergès, Yves Bertrand, Hélène Ogier de Baulny, Marie T Vanier, Manuel Schiff
Acid sphingomyelinase (ASM) deficient Niemann-Pick disease is a lysosomal storage disorder resulting from mutations in the SMPD1 gene. The clinical spectrum distinguishes a severe infantile neurological form (type A), a non-neurological visceral form (type B) and a rare intermediate neurovisceral form. We report the first case of presymptomatic cord blood transplantation in a child with the intermediate type of ASM deficiency due to a homozygous Tyr369Cys mutation, whose affected elder brother had developed neurodevelopmental delay from 19 months of age, and had died from severe visceral complications at the age of 3...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28797007/cerebrospinal-fluid-biomarkers-of-pediatric-hydrocephalus
#7
David D Limbrick, Leandro Castaneyra-Ruiz, Roland H Han, Daniel Berger, James P McAllister, Diego M Morales
Hydrocephalus (HC) is a common, debilitating neurological condition that requires urgent clinical decision-making. At present, neurosurgeons rely heavily on a patient's history, physical examination findings, neuroimaging, and clinical judgment to make the diagnosis of HC or treatment failure (e.g., shunt malfunction). Unfortunately, these tools, even in combination, do not eliminate subjectivity in clinical decisions. In order to improve the management of infants and children with HC, there is an urgent need for new biomarkers to complement currently available tools and enable clinicians to confidently establish the diagnosis of HC, assess therapeutic efficacy/treatment failure, and evaluate current and future developmental challenges, so that every child has access to the resources they need to optimize their outcome and quality of life...
August 11, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28789957/mini-open-spinal-column-shortening-for-the-treatment-of-adult-tethered-cord-syndrome
#8
Michael M Safaee, Ethan A Winkler, Dean Chou
Tethered cord syndrome (TCS) is a challenging entity characterized by adhesions at the caudal spinal cord that prevent upward movement during growth and result in stretching of the cord with a concomitant constellation of neurologic symptoms. Although growth in height stops in adulthood, some patients still develop progressive symptoms; many underwent detethering as a child or adolescent, resulting in significant scar tissue and re-tethering. Recent strategies have focused on spinal column shortening to reduce tension on the spinal cord without exposing the previous de-tethering site...
August 5, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28782931/an-lc-ms-ms-based-method-for-the-quantification-of-pyridox-am-ine-5-phosphate-oxidase-activity-in-dried-blood-spots-from-patients-with-epilepsy
#9
Matthew Peter Wilson, Emma Footitt, Apostolos Papandreou, Mari-Liis Uudelepp, Ronit Pressler, Danielle C Stevenson, Camila Gabriel, Mel Mcsweeney, Matthew Baggot, Derek Burke, Tommy Stödberg, Kate Riney, Manuel Schiff, Simon J R Heales, Kevin Mills, Paul Gissen, Peter T Clayton, Philippa B Mills
We report the development of a rapid, simple and robust LC-MS/MS based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis...
August 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28782144/syndrome-of-inappropriate-antidiuretic-hormone-secretion-from-concomitant-use-of-itraconazole-and-vindesine
#10
H Zhou, L Li, Y Zhou, Y Han
WHAT IS KNOWN AND OBJECTIVE: Several studies have reported that itraconazole-induced inhibition of vincristine (VCR) metabolism might result in neurological impairment and syndrome of inappropriate antidiuretic hormone (SIADH). However, there are few reports concerning adverse drug reactions (ADRs) resulting from concomitant use of vindesine (VDS) and itraconazole. Here, we report the first case of adverse drug interactions (ADIs) between itraconazole and VDS in a Chinese child with acute lymphocytic leukaemia (ALL)...
August 6, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28780917/filling-a-significant-gap-in-the-cardiac-icu-implementation-of-individualised-developmental-care
#11
Samantha C Butler, Kate Huyler, Aditya Kaza, Chris Rachwal
Mortality rates among children with CHD have significantly declined, although the incidence of neurological abnormalities and neurodevelopmental impairment has increased. Research has focussed on outcomes, with limited attention on prevention and intervention. Although some developmental differences and challenges seen in children with CHD are explained by the cumulative effect of medical complications associated with CHD, many sequelae are not easily explained by medical complications alone. Although cardiac intensive care is lifesaving, it creates high levels of environmental and tactile stimulation, which potentially contribute to adverse neurodevelopmental outcomes...
August 7, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28779864/neurological-complications-of-endocrine-disease
#12
Karen S Carvalho, Tal Grunwald, Francesco De Luca
The endocrine system is a complex group of organs and glands that relates to multiple other organs and systems in the body with the ultimate goal of maintaining homeostasis. This complex network functions through hormones excreted by several glands and released in the blood, targeting different body tissues and modulating their function. Any primary disorders affecting the endocrine glands and altering the amount of hormones synthesized and released will lead to disruption in the functions of multiple organs...
February 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28777266/ataxia-and-headache-in-a-child-a-case-of-acute-cerebellar-infarction
#13
Kathryn M Hewett, Brett Lorenzetti, Benjamin F Jackson
A 4-year-old female patient presents to the pediatric emergency department with acute onset of ataxia and occipital headache. Initial investigation, including computed tomography imaging, failed to demonstrate any focal neurologic lesion. Subsequent studies, however, reveal an acute thrombosis of the superior cerebellar artery. Further work up identified the likely causative factor to be a heterozygous mutation at the methylene tetrahydrofolate reductase gene. In this case report, we will discuss the work-up of pediatric ataxia, the evaluation and management of cerebrovascular accidents in children, and the association between stroke and mutation of the methylene tetrahydrofolate reductase gene...
August 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28777205/rapid-accurate-identification-of-tuberculous-meningitis-among-south-african-children-using-a-novel-clinical-decision-tool
#14
Anu Goenka, Prakash M Jeena, Koleka Mlisana, Tom Solomon, Kevin Spicer, Rebecca Stephenson, Arpana Verma, Barnesh Dhada, Michael J Griffiths
INTRODUCTION: Early diagnosis of tuberculous meningitis (TBM) is crucial to achieve optimum outcomes. There is no effective rapid diagnostic test for use in children. We aimed to develop a clinical decision tool to facilitate the early diagnosis of childhood TBM. METHODS: Retrospective case control study across 7 hospitals in KwaZulu-Natal, South Africa (2010-2014). We identified the variables most predictive of microbiologically confirmed TBM in children (3 months-15 years) by univariate analysis...
August 1, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28777180/sleep-wake-disorders-of-childhood
#15
Suresh Kotagal
PURPOSE OF REVIEW: Sleep-wake disorders occur in 10% to 28% of children and differ somewhat in pathophysiology and management from sleep-wake disorders in adults. This article discusses the diagnosis and management of key childhood sleep disorders. RECENT FINDINGS: The role of sleep in memory consolidation and in the facilitation of learning has been increasingly recognized, even at the toddler stage. Cataplexy, a key feature of narcolepsy type 1, may be subtle in childhood and characterized by transient muscle weakness isolated to the face...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28765180/isolated-third-nerve-palsy-a-rare-neurological-presentation-of-burkitt-s-lymphoma
#16
Siddhesh Arun Kalantri, Akshatha Nayak, Saikat Datta, Maitreyee Bhattacharyya
Lymphoma patient presenting with isolated third nerve palsy is relatively rare, and diagnosis of underlying disease may be challenging. Until this date, less than 20 cases have been described in the literature. This is the case of a 3-year-old boy who presented to neurologist with ptosis of left eye for 8 days. On examination, abdominal mass was detected, and the child was referred to paediatric surgery department. Laparotomy and excision of the mass was done. Histopathology and immunohistochemistry of the mass confirmed it to be a case of Burkitt's lymphoma...
August 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28763098/cross-species-comparison-of-behavioral-neurodevelopmental-milestones-in-the-common-marmoset-monkey-and-human-child
#17
Karla K Ausderau, Caitlin Dammann, Kathy McManus, Mary Schneider, Marina E Emborg, Nancy Schultz-Darken
The common marmoset (Callithrix jacchus) is an increasingly popular non-human primate species for developing transgenic and genomic edited models of neurological disorders. These models present an opportunity to assess from birth the impact of genetic mutations and to identify candidate predictive biomarkers of early disease onset. In order to apply findings from marmosets to humans, a cross-species comparison of typical development is essential. Aiming to identify similarities, differences, and gaps in knowledge of neurodevelopment, we evaluated peer-reviewed literature focused on the first 6 months of life of marmosets and compared to humans...
August 1, 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28761970/-feeding-eating-and-swallowing-disorders-in-infants-and-children-an-overview
#18
REVIEW
C Schwemmle, C Arens
Swallowing is a dynamic process that requires more than 30 muscles in the recruitment/coordination of the lips, tongue, palate, pharynx, larynx and esophagus. The eating and swallowing procedure is learned in sensitive or critical periods: when a certain degree of maturation has been achieved, the appropriate stimulus permits a certain milestone of development to occur. The swallowing procedure occurs in three main stages oral, pharyngeal, and esophageal. Therefore, swallowing disorders may present in any, some, or all of these stages in addition to feeding problems...
July 31, 2017: HNO
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#19
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28749927/cdc-grand-rounds-addressing-health-disparities-in-early-childhood
#20
Lara R Robinson, Rebecca H Bitsko, Ross A Thompson, Paul H Dworkin, Mary Ann McCabe, Georgina Peacock, Phoebe G Thorpe
Research suggests that many disparities in overall health and well-being are rooted in early childhood (1,2). Stressors in early childhood can disrupt neurologic, metabolic, and immunologic systems, leading to poorer developmental outcomes (1). However, consistent, responsive caregiving relationships and supportive community and health care environments promote an optimal trajectory (3,4). The first 8 years of a child's life build a foundation for future health and life success (5-7). Thus, the cumulative and lifelong impact of early experiences, both positive and negative, on a child's development can be profound...
July 28, 2017: MMWR. Morbidity and Mortality Weekly Report
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