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  1. Article ; Online: Parental ranking of terms describing nonepileptic events.

    Morgan, Lindsey A / Dvorchik, Igor / Williams, Korwyn L / Jarrar, Randa G / Buchhalter, Jeffrey R

    Pediatric neurology

    2013  Volume 48, Issue 5, Page(s) 378–382

    Abstract: Paroxysmal nonepileptic events of psychogenic etiology in children and adolescents are common. Patients and their parents are often confused by the terminology used to describe these events. This can lead to frustration and may result in the failure to ... ...

    Abstract Paroxysmal nonepileptic events of psychogenic etiology in children and adolescents are common. Patients and their parents are often confused by the terminology used to describe these events. This can lead to frustration and may result in the failure to obtain the necessary nonpharmacologic treatment. Various terms are used to describe such events, some of which might be considered offensive to some individuals. Surveys from 146 parents or guardians of patients identified from a general pediatric clinic, a general neurology clinic, and a pediatric epilepsy monitoring unit were completed with the aim of determining which words and phrases were least offensive. It was determined that nonepileptic events, functional seizures, and nonepileptic attack disorder were the least offensive labels; whereas "it is all in his or her head," hysterical seizures, and psychogenic seizures were the most offensive terms. This is the only study of its type in the pediatric population. Although each child and family requires individualized communication, we hope that this article will provide useful information to guide the practicing pediatric neurologist in informing families that their children are having events of nonepileptic etiology.
    MeSH term(s) Anticonvulsants ; Child ; Conversion Disorder/physiopathology ; Conversion Disorder/psychology ; Conversion Disorder/therapy ; Data Interpretation, Statistical ; Female ; Humans ; Male ; Parents ; Patient Education as Topic ; Physician-Patient Relations ; Prospective Studies ; Seizures/physiopathology ; Seizures/psychology ; Seizures/therapy ; Surveys and Questionnaires ; Terminology as Topic
    Chemical Substances Anticonvulsants
    Language English
    Publishing date 2013-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 639164-3
    ISSN 1873-5150 ; 0887-8994
    ISSN (online) 1873-5150
    ISSN 0887-8994
    DOI 10.1016/j.pediatrneurol.2012.12.029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Therapeutics in pediatric epilepsy, Part 1: The new antiepileptic drugs and the ketogenic diet.

    Jarrar, Randa G / Buchhalter, Jeffrey R

    Mayo Clinic proceedings

    2003  Volume 78, Issue 3, Page(s) 359–370

    Abstract: Epilepsy is one of the most common and challenging neurologic disorders affecting children. Although various modalities exist to treat pediatric-onset seizures, seizures in 25% of children who are diagnosed as having epilepsy remain refractory to ... ...

    Abstract Epilepsy is one of the most common and challenging neurologic disorders affecting children. Although various modalities exist to treat pediatric-onset seizures, seizures in 25% of children who are diagnosed as having epilepsy remain refractory to available therapies. Of the 8 new antiepileptic drugs (AEDs) (felbamate, gabapentin, lamotrigine, topiramate, tiagabine, levetiracetam, oxcarbazepine, and zonisamide), all but 2 (zonisamide and levetiracetam) have received Food and Drug Administration approval for adjunctive use in the pediatric population. However, most of the new AEDs used in adults have also been used in children, beyond the AEDs' approved indications. The ultimate goal of patient management is to choose the therapeutic option that provides the best chance of improving the patient's quality of life. Issues that relate to treatment choice include the likelihood of seizure recurrence, type and severity of seizures, available AED efficacies and toxicities, need for hematologic monitoring, ease of dosing, underlying medical conditions, medication interactions, urgency of initiating therapy, and cost. In this review, we discuss these issues for each of the 8 new AEDs; we also discuss the ketogenic diet and briefly review the older AEDs. Knowledge of the available AEDs will enable the practitioner to choose the best drug or drugs for individual patients.
    MeSH term(s) Anticonvulsants/therapeutic use ; Child ; Epilepsy/diet therapy ; Epilepsy/drug therapy ; Humans ; Ketone Bodies/metabolism
    Chemical Substances Anticonvulsants ; Ketone Bodies
    Language English
    Publishing date 2003-03
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 124027-4
    ISSN 1942-5546 ; 0025-6196
    ISSN (online) 1942-5546
    ISSN 0025-6196
    DOI 10.4065/78.3.359
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Therapeutics in pediatric epilepsy, Part 2: Epilepsy surgery and vagus nerve stimulation.

    Buchhalter, Jeffrey R / Jarrar, Randa G

    Mayo Clinic proceedings

    2003  Volume 78, Issue 3, Page(s) 371–378

    Abstract: When antiepileptic drugs fail to relieve seizures adequately in children and adolescents, more invasive therapies such as epilepsy surgery and an implanted device to stimulate the vagus nerve should be considered. Temporal lobectomy is an effective ... ...

    Abstract When antiepileptic drugs fail to relieve seizures adequately in children and adolescents, more invasive therapies such as epilepsy surgery and an implanted device to stimulate the vagus nerve should be considered. Temporal lobectomy is an effective treatment of complex partial and secondarily generalized tonic-clonic seizures arising in the mesial structures or lateral temporal neocortex. Excellent outcomes (seizure free or rare, nondisabling seizures) are achieved in at least 70% of children. The most common adverse effect is a superior quadrant field cut that is usually asymptomatic. Transient and more long-lasting language difficulties have been reported when the surgery involves the dominant temporal lobe. The excellent outcome rate for extratemporal surgery ranges from approximately 20% to 80%, with better results seen in patients with an identifiable lesion. Potential morbidity is related to the region of resected neocortex. Corpus callosotomy is an excellent procedure for palliation but is not a cure for seizures that cause falls, with substantial improvement seen in more than 80% of patients. Potential adverse effects include more intense focal seizures and dysphasia, depending on the developmental level of the individual. Hemispherectomy provides seizure relief in 60% to 80% of patients with hemispherical pathologies such as Sturge-Weber or Rasmussen syndromes. Operative mortality has been reported in the range of 0% to 6%; other morbidities include infection and hydrocephalus. Stimulation of the vagus nerve has reduced partial seizures by 50% or more in approximately one third of patients. No adverse cognitive or systemic effects are associated with use of the implanted vagus nerve stimulator.
    MeSH term(s) Child ; Corpus Callosum/surgery ; Electric Stimulation Therapy/methods ; Electrodes, Implanted ; Epilepsy/therapy ; Hemispherectomy ; Humans ; Temporal Lobe/surgery ; Vagus Nerve/physiology
    Language English
    Publishing date 2003-03
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 124027-4
    ISSN 1942-5546 ; 0025-6196
    ISSN (online) 1942-5546
    ISSN 0025-6196
    DOI 10.4065/78.3.371
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  4. Article ; Online: Text Classification towards Detecting Misdiagnosis of an Epilepsy Syndrome in a Pediatric Population.

    Sullivan, Ryan / Yao, Robert / Jarrar, Randa / Buchhalter, Jeffrey / Gonzalez, Graciela

    AMIA ... Annual Symposium proceedings. AMIA Symposium

    2014  Volume 2014, Page(s) 1082–1087

    Abstract: When attempting to identify a specific epilepsy syndrome, physicians are often unable to make or agree upon a diagnosis. This is further complicated by the fact that the current classification and diagnosis of epilepsy requires specialized training and ... ...

    Abstract When attempting to identify a specific epilepsy syndrome, physicians are often unable to make or agree upon a diagnosis. This is further complicated by the fact that the current classification and diagnosis of epilepsy requires specialized training and the use of resources not typically available to the average clinician, such as training to recognize specific seizure types and electroencephalography (EEG). Even when training and resources are available, expert epileptologists often find it challenging to identify seizure types and to distinguish between specific epilepsy syndromes. Information relevant to the diagnosis is present in narrative form in the medical record across several visits for an individual patient. Our ultimate goal is to create a system that will assist physicians in the diagnosis of epilepsy. This paper explores, as a baseline, text classification methods that attempt to correlate the narrative text features to the diagnosis of West syndrome (Infantile Spasms), using data from Phoenix Children's Hospital (PCH). We tested these methods against a dataset containing known (coded) diagnosis of West Syndrome, and found the best performing method to have a precision / recall / f-measure of 76.8 / 66.7 / 71.4 when evaluated with 10-fold cross validation.
    MeSH term(s) Bayes Theorem ; Child ; Diagnosis, Computer-Assisted ; Diagnostic Errors ; Female ; Humans ; Infant ; Male ; Natural Language Processing ; Retrospective Studies ; Spasms, Infantile/classification ; Spasms, Infantile/diagnosis
    Language English
    Publishing date 2014
    Publishing country United States
    Document type Journal Article
    ISSN 1942-597X
    ISSN (online) 1942-597X
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  5. Article ; Online: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

    Helbig, Katherine L / Lauerer, Robert J / Bahr, Jacqueline C / Souza, Ivana A / Myers, Candace T / Uysal, Betül / Schwarz, Niklas / Gandini, Maria A / Huang, Sun / Keren, Boris / Mignot, Cyril / Afenjar, Alexandra / Billette de Villemeur, Thierry / Héron, Delphine / Nava, Caroline / Valence, Stéphanie / Buratti, Julien / Fagerberg, Christina R / Soerensen, Kristina P /
    Kibaek, Maria / Kamsteeg, Erik-Jan / Koolen, David A / Gunning, Boudewijn / Schelhaas, H Jurgen / Kruer, Michael C / Fox, Jordana / Bakhtiari, Somayeh / Jarrar, Randa / Padilla-Lopez, Sergio / Lindstrom, Kristin / Jin, Sheng Chih / Zeng, Xue / Bilguvar, Kaya / Papavasileiou, Antigone / Xing, Qinghe / Zhu, Changlian / Boysen, Katja / Vairo, Filippo / Lanpher, Brendan C / Klee, Eric W / Tillema, Jan-Mendelt / Payne, Eric T / Cousin, Margot A / Kruisselbrink, Teresa M / Wick, Myra J / Baker, Joshua / Haan, Eric / Smith, Nicholas / Sadeghpour, Azita / Davis, Erica E / Katsanis, Nicholas / Corbett, Mark A / MacLennan, Alastair H / Gecz, Jozef / Biskup, Saskia / Goldmann, Eva / Rodan, Lance H / Kichula, Elizabeth / Segal, Eric / Jackson, Kelly E / Asamoah, Alexander / Dimmock, David / McCarrier, Julie / Botto, Lorenzo D / Filloux, Francis / Tvrdik, Tatiana / Cascino, Gregory D / Klingerman, Sherry / Neumann, Catherine / Wang, Raymond / Jacobsen, Jessie C / Nolan, Melinda A / Snell, Russell G / Lehnert, Klaus / Sadleir, Lynette G / Anderlid, Britt-Marie / Kvarnung, Malin / Guerrini, Renzo / Friez, Michael J / Lyons, Michael J / Leonhard, Jennifer / Kringlen, Gabriel / Casas, Kari / El Achkar, Christelle M / Smith, Lacey A / Rotenberg, Alexander / Poduri, Annapurna / Sanchis-Juan, Alba / Carss, Keren J / Rankin, Julia / Zeman, Adam / Raymond, F Lucy / Blyth, Moira / Kerr, Bronwyn / Ruiz, Karla / Urquhart, Jill / Hughes, Imelda / Banka, Siddharth / Hedrich, Ulrike B S / Scheffer, Ingrid E / Helbig, Ingo / Zamponi, Gerald W / Lerche, Holger / Mefford, Heather C

    American journal of human genetics

    2019  Volume 104, Issue 3, Page(s) 562

    Language English
    Publishing date 2019-03-07
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.02.015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

    Helbig, Katherine L / Lauerer, Robert J / Bahr, Jacqueline C / Souza, Ivana A / Myers, Candace T / Uysal, Betül / Schwarz, Niklas / Gandini, Maria A / Huang, Sun / Keren, Boris / Mignot, Cyril / Afenjar, Alexandra / Billette de Villemeur, Thierry / Héron, Delphine / Nava, Caroline / Valence, Stéphanie / Buratti, Julien / Fagerberg, Christina R / Soerensen, Kristina P /
    Kibaek, Maria / Kamsteeg, Erik-Jan / Koolen, David A / Gunning, Boudewijn / Schelhaas, H Jurgen / Kruer, Michael C / Fox, Jordana / Bakhtiari, Somayeh / Jarrar, Randa / Padilla-Lopez, Sergio / Lindstrom, Kristin / Jin, Sheng Chih / Zeng, Xue / Bilguvar, Kaya / Papavasileiou, Antigone / Xing, Qinghe / Zhu, Changlian / Boysen, Katja / Vairo, Filippo / Lanpher, Brendan C / Klee, Eric W / Tillema, Jan-Mendelt / Payne, Eric T / Cousin, Margot A / Kruisselbrink, Teresa M / Wick, Myra J / Baker, Joshua / Haan, Eric / Smith, Nicholas / Sadeghpour, Azita / Davis, Erica E / Katsanis, Nicholas / Corbett, Mark A / MacLennan, Alastair H / Gecz, Jozef / Biskup, Saskia / Goldmann, Eva / Rodan, Lance H / Kichula, Elizabeth / Segal, Eric / Jackson, Kelly E / Asamoah, Alexander / Dimmock, David / McCarrier, Julie / Botto, Lorenzo D / Filloux, Francis / Tvrdik, Tatiana / Cascino, Gregory D / Klingerman, Sherry / Neumann, Catherine / Wang, Raymond / Jacobsen, Jessie C / Nolan, Melinda A / Snell, Russell G / Lehnert, Klaus / Sadleir, Lynette G / Anderlid, Britt-Marie / Kvarnung, Malin / Guerrini, Renzo / Friez, Michael J / Lyons, Michael J / Leonhard, Jennifer / Kringlen, Gabriel / Casas, Kari / El Achkar, Christelle M / Smith, Lacey A / Rotenberg, Alexander / Poduri, Annapurna / Sanchis-Juan, Alba / Carss, Keren J / Rankin, Julia / Zeman, Adam / Raymond, F Lucy / Blyth, Moira / Kerr, Bronwyn / Ruiz, Karla / Urquhart, Jill / Hughes, Imelda / Banka, Siddharth / Hedrich, Ulrike B S / Scheffer, Ingrid E / Helbig, Ingo / Zamponi, Gerald W / Lerche, Holger / Mefford, Heather C

    American journal of human genetics

    2018  Volume 103, Issue 5, Page(s) 666–678

    Abstract: Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment ... ...

    Abstract Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the α
    MeSH term(s) Adolescent ; Adult ; Calcium Channels, R-Type/genetics ; Cation Transport Proteins/genetics ; Child ; Child, Preschool ; Contracture/genetics ; Dyskinesias/genetics ; Epilepsy/genetics ; Female ; Genetic Variation/genetics ; Humans ; Infant ; Male ; Megalencephaly/genetics ; Neurodevelopmental Disorders/genetics ; Spasms, Infantile/genetics
    Chemical Substances CACNA1E protein, human ; Calcium Channels, R-Type ; Cation Transport Proteins
    Language English
    Publishing date 2018-10-18
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.09.006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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