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https://www.readbyqxmd.com/read/29895895/missense-variants-in-atp1a3-and-fxyd-gene-family-are-associated-with-childhood-onset-schizophrenia
#1
Boris Chaumette, Vladimir Ferrafiat, Amirthagowri Ambalavanan, Alice Goldenberg, Alexandre Dionne-Laporte, Dan Spiegelman, Patrick A Dion, Priscille Gerardin, Claudine Laurent, David Cohen, Judith Rapoport, Guy A Rouleau
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene. ATP1A3 encodes the α-subunit of a neuron-specific ATP-dependent transmembrane sodium-potassium pump. Using whole exome sequencing data derived from a cohort of 17 unrelated COS cases, we also examined ATP1A3 and all of its interactors known to be expressed in the brain to establish if variants could be identified...
June 12, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29876911/-new-insights-in-inborn-errors-of-metabolism-are-leading-to-new-paradigms-in-child-neurology
#2
A Garcia-Cazorla, J M Saudubray
In the last recent years, the -omics era has already transformed child neurology. Next generation sequencing (NGS) has identified many novel disease causing genes and phenotypes. While genetics is of great importance as a diagnostic tool, it is less helpful when it comes to a comprehensive understanding of mechanisms of brain dysfunction. Child neurologists are at high risk of being lost in genomics if they do not face the necessity of a new approach in their clinical practice. The large amount of data provided by NGS is just one more element in a complex puzzle...
June 5, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29644724/a-novel-missense-mutation-in-grin2a-causes-a-nonepileptic-neurodevelopmental-disorder
#3
Ana Fernández-Marmiesse, Hirofumi Kusumoto, Saray Rekarte, Iria Roca, Jin Zhang, Scott J Myers, Stephen F Traynelis, Mª Luz Couce, Luis Gutierrez-Solana, Hongjie Yuan
BACKGROUND: Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. However, thus far, mutations in this gene have not been associated with a nonepileptic neurodevelopmental disorder with dystonia. OBJECTIVES: The objective of this study was to identify the disease-causing gene in 2 siblings with neurodevelopmental and movement disorders with no epileptiform abnormalities...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29549980/-mathematical-learning-disability-a-multiple-origin-examples-of-turner-and-fragile-x-syndromes
#4
C Deffrennes, M De Clercq, L Vallée, M-P Lemaître
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities...
April 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29527187/emerging-viral-infections-in-sub-saharan-africa-and-the-developing-nervous-system-a-mini-review
#5
REVIEW
Angelina Kakooza-Mwesige, Abdul H Mohammed, Krister Kristensson, Sharon L Juliano, Julius J Lutwama
The global public health concern is heightened over the increasing number of emerging viruses, i.e., newly discovered or previously known that have expanded into new geographical zones. These viruses challenge the health-care systems in sub-Saharan Africa (SSA) countries from which several of them have originated and been transmitted by insects worldwide. Some of these viruses are neuroinvasive, but have been relatively neglected by neuroscientists. They may provide experiments by nature to give a time window for exposure to a new virus within sizeable, previously non-infected human populations, which, for instance, enables studies on potential long-term or late-onset effects on the developing nervous system...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29475820/how-do-parents-perceive-adverse-drug-events-of-their-children-s-anticonvulsant-medication
#6
V A Bach, M P Neininger, U P Spindler, L C Hotopp, F Hornemann, S Syrbe, A Merkenschlager, W Kiess, M K Bernhard, T Bertsche, A Bertsche
BACKGROUND: The main source of knowledge on adverse drug events (ADE) are physicians' reports in controlled clinical trials. In contrast, little is known about the parents' perception of ADE of anticonvulsants their children receive. METHODS: After approval by the local ethics committee, we performed a survey in a neuropediatric outpatient clinic of a university hospital. Based on a structured questionnaire, we interviewed parents of children with current anticonvulsant treatment regarding (i) their fears about potential ADE, (ii) experienced ADE according to parents, and (iii) implications of ADE on the child's life...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29445842/-rare-diseases-in-dentistry-and-oral-medicine-report-on-the-2017-first-national-congress
#7
Marcel Hanisch, Susanne Jung, Johannes Kleinheinz
On November 25, the first national congress for rare diseases in dentistry and oral medicine under the auspices of ACHSE e. V. and Orphanet was held in Muenster. With speakers from the field of medicine, dentistry, politics, patient advocacy groups, self-help groups and persons concerned, a platform for exchange between physicians and patients on an equal footing was offered to the participants. At the end of each of the 12 lectures, more than 300 national and international guests discussed the various issues and perspectives related to the topic of rare diseases in dentistry and oral medicine...
April 2018: Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
https://www.readbyqxmd.com/read/29101526/-developmental-neurology-networked-medicine-and-new-perspectives
#8
REVIEW
U Tacke, H Weigand-Brunnhölzl, A Hilgendorff, R M Giese, A W Flemmer, H König, B Warken-Madelung, M Arens, N Hesse, A S Schroeder
Developmental neurology is one of the major areas of neuropediatrics and is among other things (legally) responsible for monitoring the motor, cognitive and psychosocial development of all infants using standardized monitoring investigations. The special focus is on infants born at risk and/or due to premature birth before 32 weeks of gestation or a birth weight less than 1500 g. Early diagnosis of deviations from normal, age-related development is a prerequisite for early interventions, which may positively influence development and the long-term biopsychosocial prognosis of the patients...
December 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/29025283/translation-reliability-and-clinical-utility-of-the-melbourne-assessment-2
#9
Corinna N Gerber, Anael Plebani, Rob Labruyère
OBJECTIVE: The aims were to (i) provide a German translation of the Melbourne Assessment 2 (MA2), a quantitative test to measure unilateral upper limb function in children with neurological disabilities and (ii) to evaluate its reliability and aspects of clinical utility. METHODS: After its translation into German and approval of the back translation by the original authors, the MA2 was performed and videotaped twice with 30 children with neuromotor disorders. For each participant, two raters scored the video of the first test for inter-rater reliability...
October 12, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28929233/-pediatric-neurology-and-neuropediatrics
#10
EDITORIAL
F Heinen
No abstract text is available yet for this article.
December 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28852995/-key-topics-in-austrian-child-and-adolescent-psychiatry-2007-2017
#11
Andreas Karwautz, Cvetka F Lipuš, Martin Fuchs
The medical speciality "Child and Adolescent Psychiatry" exists since 2007. 2015 a new training regulation defined an increment to "Child and Adolescent Psychiatry and Psychotherapeutic Medicine". To document the achievements in research within the last 10 years for the first time, all papers listed in Pubmed and all books published by the member of the ÖGKJP were summarized. Additionally, the clinical/scientific key aspects of all large teaching centres were documented.All members of the ÖGKJP are scientifically active in various areas of child psychiatry...
August 30, 2017: Neuropsychiatrie: Klinik, Diagnostik, Therapie und Rehabilitation
https://www.readbyqxmd.com/read/28660751/clinical-and-genetic-diversities-of-charcot-marie-tooth-disease-with-mfn2-mutations-in-a-large-case-study
#12
Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima
Charcot-Marie-Tooth disease (CMT) constitutes a heterogeneous group affecting motor and sensory neurons in the peripheral nervous system. MFN2 mutations are the most common cause of axonal CMT. We describe the clinical and mutational spectra of CMT patients harboring MFN2 mutations in Japan. We analyzed 1,334 unrelated patients with clinically suspected CMT referred by neurological and neuropediatric departments throughout Japan. We conducted mutation screening using a DNA microarray, targeted resequencing, and whole-exome sequencing...
September 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28482375/abstracts-of-the-43rd-annual-meeting-of-the-society-for-neuropediatrics
#13
Bernd A Neubauer
No abstract text is available yet for this article.
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28471611/clinical-profile-of-attention-deficit-hyperactivity-disorder-impact-of-ethnic-and-social-diversities-in-israel
#14
Muhammad Mahajnah, Rajech Sharkia, Nadeem Shorbaji, Nathanel Zelnik
BACKGROUND: Despite the increased worldwide recognition of attention deficit/hyperactivity disorder (ADHD), there is a variability in the diagnostic rate of both ADHD and its co-morbidities. These diversities are probably related to the methodology and instruments used for the diagnosis of ADHD and to awareness and cultural interpretation of its existence. OBJECTIVES: To identify consistent differences in the clinical profile of Arab and Jewish children with ADHD in Israel who differ in their cultural, ethnic and socioeconomic background...
June 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28387798/two-year-development-of-children-conceived-by-ivm-a-prospective-controlled-single-blinded-study
#15
COMPARATIVE STUDY
S Roesner, M von Wolff, M Elsaesser, K Roesner, G Reuner, J Pietz, T Bruckner, T Strowitzki
STUDY QUESTION: Is there a difference in mental development of children conceived by IVM in comparison to IVF or ICSI, independently, at the age of 2 years? SUMMARY ANSWER: No differences could be found in mental development of IVM children compared to IVF and IVM children compared to ICSI as well. WHAT IS KNOWN ALREADY: Only few retrospective or non-controlled studies addressed the health of IVM children and did not show a negative impact of the IVM procedure...
June 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28327842/-characteristics-of-patients-with-cerebral-palsy-seen-in-neuropediatric-external-consultation-in-a-peruvian-hospital
#16
Judith R Vila, Ivan O Espinoza, Daniel Guillén, Frine Samalvides
The aim of this study was to describe the neurological consultation and baseline characteristics of children with cerebral palsy (CP). The clinical records of children with CP attending an external consultation of the Neuropediatric department of Hospital Nacional Cayetano Heredia between 2011 and 2012 were assessed in this retrospective descriptive study. A total of 81 children were included: 53.1% were boys. Spastic CP was the most frequent (72.8%), hypoxic-isquemic encephalopathy (28.1%) and cerebral malformations (28...
October 2016: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/28324907/invitation-and-welcome-to-the-43rd-annual-meeting-of-the-society-for-neuropediatrics
#17
Bernd A Neubauer, Andreas Hahn
No abstract text is available yet for this article.
April 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28287497/role-of-genetics-in-the-etiology-of-autistic-spectrum-disorder-towards-a-hierarchical-diagnostic-strategy
#18
REVIEW
Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman
Progress in epidemiological, molecular and clinical genetics with the development of new techniques has improved knowledge on genetic syndromes associated with autism spectrum disorder (ASD). The objective of this article is to show the diversity of genetic disorders associated with ASD (based on an extensive review of single-gene disorders, copy number variants, and other chromosomal disorders), and consequently to propose a hierarchical diagnostic strategy with a stepwise evaluation, helping general practitioners/pediatricians and child psychiatrists to collaborate with geneticists and neuropediatricians, in order to search for genetic disorders associated with ASD...
March 12, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28284396/pyridoxal-phosphate-supplementation-in-neuropediatric-disorders
#19
Elisenda Cortès-Saladelafont, Marta Molero-Luis, Hsjd Working Group, Rafael Artuch, Àngels García-Cazorla
Pyridoxal phosphate (PLP) is the active form of vitamin B6 and a cofactor in many enzyme reactions including neurotransmitter metabolism. PLP metabolism disturbances may mostly lead to refractory seizures. In this report, we review the main pathophysiological factors related with PLP deficiency and our experience in PLP treatment in pediatric patients with low-normal cerebrospinal fluid PLP values who presented epilepsy. Only one case had a definite diagnosis (Phelan-McDermid syndrome). The results of extensive metabolic workups and targeted genetic studies were normal for all patients...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28284389/biochemical-analyses-of-cerebrospinal-fluid-for-the-diagnosis-of-neurometabolic-conditions-what-can-we-expect
#20
REVIEW
Marta Batllori, Marta Molero-Luis, Mercedes Casado, Cristina Sierra, Rafael Artuch, Aida Ormazabal
In this article, we review the state-of-the-art analysis of different biomarkers in the cerebrospinal fluid for the diagnosis of genetically conditioned, rare, neurometabolic diseases, including glucose transport defects, neurotransmitter (dopamine, serotonin, and gamma-aminobutyric acid) and pterin deficiencies, and vitamin defects (folate, vitamin B6 , and thiamine) that affect the brain. The analysis of several key metabolites are detailed, which thus highlights the preanalytical and analytical factors that should be cautiously controlled to avoid misdiagnosis; moreover, these factors may facilitate an adequate interpretation of the biochemical profiles in the context of severe neuropediatric disorders...
November 2016: Seminars in Pediatric Neurology
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