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  1. Article ; Online: Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.

    Alsubhi, Sarah / Berrahmoune, Saoussen / Dudley, Roy W R / Dufresne, David / Simard Tremblay, Elisabeth / Srour, Myriam / Myers, Kenneth A

    Journal of neurology

    2024  Volume 271, Issue 5, Page(s) 2503–2508

    Abstract: We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery ... ...

    Abstract We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data. Of 125 patients referred for epilepsy surgical evaluation, 86 (69%) had some form of genetic testing. Of these, 18 (21%) had a pathogenic or likely pathogenic variant identified. Genes affected included NPRL3 (3 patients, all related), TSC2 (3 patients), KCNH1, CHRNA4, SPTAN1, DEPDC5, SCN2A, ARX, SCN1A, DLG4, and ST5. One patient had ring chromosome 20, one a 7.17p12 duplication, and one a 15q13 deletion. In six patients, suspected epileptogenic lesions were identified on brain MRI that were thought to be unrelated to the genetic finding. A specific medical therapy choice was allowed due to genetic diagnosis in three patients who did not undergo surgery. Obtaining a molecular diagnosis may dramatically alter management in pediatric patients with drug-resistant focal epilepsy. Genetic testing should be incorporated as part of standard investigations in the pre-surgical work-up of pediatric patients with drug-resistant focal epilepsy.
    MeSH term(s) Humans ; Child ; Drug Resistant Epilepsy/genetics ; Drug Resistant Epilepsy/surgery ; Drug Resistant Epilepsy/diagnostic imaging ; Male ; Female ; Genetic Testing ; Retrospective Studies ; Adolescent ; Child, Preschool ; Infant ; Electroencephalography ; Magnetic Resonance Imaging ; Epilepsies, Partial/genetics ; Epilepsies, Partial/surgery ; Epilepsies, Partial/diagnostic imaging ; Epilepsies, Partial/diagnosis ; Preoperative Care
    Language English
    Publishing date 2024-01-23
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-023-12174-3
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  2. Article ; Online: Ictal biting injuries in the epilepsy monitoring unit, a cohort study of incidence and semiological significance.

    Dufresne, David / Dubovec, Kathleen / So, Norman K / Kotagal, Prakash

    Seizure

    2019  Volume 66, Page(s) 39–41

    Abstract: Purpose: Oral biting injuries are widely recognized complications of seizures. Value in differentiating epileptic vs paroxysmal non-epileptic seizures is well demonstrated, but frequency and semiological value are poorly described. We aimed to evaluate ... ...

    Abstract Purpose: Oral biting injuries are widely recognized complications of seizures. Value in differentiating epileptic vs paroxysmal non-epileptic seizures is well demonstrated, but frequency and semiological value are poorly described. We aimed to evaluate frequency in an epilepsy monitoring unit setting as well as semiological value.
    Material and methods: Systematic evaluation of ictal oral injuries was provided by the nursing staff on the Epilepsy Monitoring Unit. Cases were identified by chart review. Demographic, diagnostic and seizure-related data were collected from medical records and video-EEG recording, and correlated with location of tongue laceration. Lateralized oral lacerations while recumbent were further analyzed to eliminate contribution of body position.
    Results: 89 events were reported in 52 individuals (5.6% of all admissions or 8.3% of patients with epileptic seizures). Lacerations occurred in 88 epileptic seizures (80 generalized, three focal, five undetermined) and one non-epileptic seizure. 87/88 had a tonic component and 86/88 had a clonic component. Lateralized tongue laceration occurred in 30 patients. This correlated with body position during the event but not with handedness or seizure characteristics.
    Conclusions: Oral biting is a common complication in the epilepsy monitoring unit. Its presence suggests a tonic or clonic component but is of no help in localizing seizure onset.
    MeSH term(s) Bites and Stings/diagnosis ; Bites and Stings/epidemiology ; Bites and Stings/etiology ; Cohort Studies ; Electroencephalography ; Epilepsy/complications ; Epilepsy/epidemiology ; Female ; Humans ; Incidence ; Lacerations ; Male ; Monitoring, Physiologic/methods ; Mouth/pathology
    Language English
    Publishing date 2019-02-14
    Publishing country England
    Document type Journal Article
    ZDB-ID 1137610-7
    ISSN 1532-2688 ; 1059-1311
    ISSN (online) 1532-2688
    ISSN 1059-1311
    DOI 10.1016/j.seizure.2019.02.005
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  3. Article ; Online: "Generalized-to-focal" epilepsy: stereotactic EEG and high-frequency oscillation patterns

    von Ellenrieder, Nicolas / Dubeau, Francois / Dudley, Roy W. R. / Dufresne, David / Gotman, Jean / Baillet, Sylvain / Moreau, Jeremy T. / Bernasconi, Neda / Bernasconi, Andrea / Osterman, Bradley / Simard-Tremblay, Elisabeth / Myers, Kenneth A.

    Epileptic disorders : international epilepsy journal with videotape

    2022  Volume 24, Issue 6, Page(s) 1087–1094

    Abstract: Objective: We aimed to clarify the pathophysiology of epilepsy involving seizures with apparently generalized onset, progressing to focal ictal rhythm through stereotactic EEG (SEEG) implantation, recording, stimulation and high-frequency oscillation ( ... ...

    Title translation “Generalized-to-focal” epilepsy: stereotactic EEG and high-frequency oscillation patterns.
    Abstract Objective: We aimed to clarify the pathophysiology of epilepsy involving seizures with apparently generalized onset, progressing to focal ictal rhythm through stereotactic EEG (SEEG) implantation, recording, stimulation and high-frequency oscillation (HFO) analysis.
    Methods: We identified two patients with seizures with bilateral electrographic onset evolving to focal ictal rhythm, who underwent SEEG implantation. Patients had pre-surgical epilepsy work-up, including prolonged video scalp EEG, brain MRI, PET, ictal/interictal SPECT, MEG, and EEG-fMRI prior to SEEG implantation.
    Results: Both patients had childhood-onset seizures involving behavioural arrest and left versive head and eye deviation, evolving to bilateral tonic-clonic convulsions. Seizures were electrographically preceded by diffuse, bilateral 3-Hz activity resembling absence seizures. Both had suspected focal lesions based on neuroimaging, including 3T MRI and voxel-based post-processing in one patient. Electrode stimulation did not elicit any habitual electroclinical seizures. HFO analysis showed bilateral focal regions with high fast-ripple rates.
    Significance: “Generalized-to-focal” seizures may occur due to a diffuse, bilateral epileptic network, however, both patients showed ictal evolution from a generalized pattern to a single dominant focus which may explain why the focal aspect of their seizures had a consistent clinical semiology. Patients such as these may have a unique form of generalized epilepsy, but focal/multifocal cerebral abnormalities are also a possibility.
    MeSH term(s) Child ; Electroencephalography/methods ; Epilepsies, Partial/diagnosis ; Epilepsies, Partial/surgery ; Epilepsy, Absence ; Epilepsy, Generalized ; Humans ; Seizures/diagnosis ; Seizures/surgery
    Language English
    Publishing date 2022-11-04
    Publishing country France
    Document type Journal Article
    ZDB-ID 2086797-9
    ISSN 1950-6945 ; 1294-9361
    ISSN (online) 1950-6945
    ISSN 1294-9361
    DOI 10.1684/epd.2022.1489
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  4. Article ; Online: Spectrum of visual disorders in a population-based cerebral palsy cohort.

    Dufresne, David / Dagenais, Lynn / Shevell, Michael I

    Pediatric neurology

    2014  Volume 50, Issue 4, Page(s) 324–328

    Abstract: Background: Children with cerebral palsy are known to be at increased risk for visual impairment.: Methods: In a population-based sample drawn from a geographically defined registry, the profile of visual impairment in children with cerebral palsy ... ...

    Abstract Background: Children with cerebral palsy are known to be at increased risk for visual impairment.
    Methods: In a population-based sample drawn from a geographically defined registry, the profile of visual impairment in children with cerebral palsy was investigated.
    Results: Close to half (49.8%; 106/213) had a visual impairment. The majority of these individuals had strabismus (55.7%; 59/106) and a slightly lesser fraction had refractive errors (20.7%; 22/106) or severe visual loss (18.9%; 20/106). The vast majority of children with severe visual loss had spastic quadriplegia (83%; 17/20) or were nonambulatory (i.e., Gross Motor Function Classification Scale IV/V, 80%; 16/20).
    Conclusions: Knowledge of this profile will assist practitioners to heighten their appreciation of potential visual disturbances in certain subsets of children with cerebral palsy.
    MeSH term(s) Cerebral Palsy/physiopathology ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Male ; Quadriplegia/physiopathology ; Quebec ; Registries ; Risk Factors ; Vision Disorders/physiopathology ; Vision Tests
    Language English
    Publishing date 2014-04
    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.2013.11.022
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    Zs.A 2260: Show issues Location:
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  5. Article ; Online: Epidemiology of severe hearing impairment in a population-based cerebral palsy cohort.

    Dufresne, David / Dagenais, Lynn / Shevell, Michael I

    Pediatric neurology

    2014  Volume 51, Issue 5, Page(s) 641–644

    Abstract: Background: Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP).: Methods: Hearing impairment was assessed in a registry-derived population-based sample of children with CP.: Results: Hearing ... ...

    Abstract Background: Comorbidities including hearing impairment occur commonly in individuals with cerebral palsy (CP).
    Methods: Hearing impairment was assessed in a registry-derived population-based sample of children with CP.
    Results: Hearing impairment was documented in 12.7% (27 of 212) with less than a quarter of these (or 2.7% overall [6 of 212]) having a severe hearing loss of greater than 70 dB bi-aurally. Those with severe hearing impairment were more likely to be nonambulatory (Gross Motor Function Classification System IV/V; 100% versus 34.0% in the registry; P < 0.001) and have a spastic quadriplegic or dyskinetic CP variant (100% versus 42%, P = 0.001). Severe neonatal hyperbilirubinemia necessitating exchange transfusion demonstrated a striking association with hearing impairment in the context of CP in spite of small observed numbers; three of three had severe hearing loss, accounting for 50% of cases of severe hearing loss.
    Conclusions: These results suggest a specific CP context and antecedent conditions that necessitate a heightened vigilance for the detection and remediation of hearing impairment.
    MeSH term(s) Adolescent ; Cerebral Palsy/complications ; Child ; Cohort Studies ; Female ; Hearing Loss/epidemiology ; Hearing Loss/etiology ; Humans ; Male ; Quebec/epidemiology ; Registries
    Language English
    Publishing date 2014-11
    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.2014.07.005
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  6. Article: The Competency Model for Professional Rehabilitation Nursing.

    Vaughn, Stephanie / Mauk, Kristen L / Jacelon, Cynthia S / Larsen, Pamala D / Rye, Jill / Wintersgill, Wendy / Cave, Christine E / Dufresne, David

    Rehabilitation nursing : the official journal of the Association of Rehabilitation Nurses

    2016  Volume 41, Issue 1, Page(s) 33–44

    Abstract: Background: Rehabilitation nursing is practiced in various settings along the healthcare continuum. No framework is noted in the literature that defines the necessary competencies of the rehabilitation nurse.: Purpose: To develop a Competency Model ... ...

    Abstract Background: Rehabilitation nursing is practiced in various settings along the healthcare continuum. No framework is noted in the literature that defines the necessary competencies of the rehabilitation nurse.
    Purpose: To develop a Competency Model for Professional Rehabilitation Nursing and its application to clinical and educational practice.
    Method/design: A seven-member Association of Rehabilitation Nurses (ARN) task force was convened; conducted a literature review, reviewed current and historical ARN documents, including the Strategic Plan, and developed a Competency Model for Professional Rehabilitation Nursing practice.
    Findings: The Competency Model for Professional Rehabilitation Nursing delineates four domains of rehabilitation nursing practice and essential role competencies.
    Conclusion: The Competency Model for Professional Rehabilitation Nursing addresses this diverse specialty practice in the current healthcare arena. This framework can be used to guide nurses practicing at different levels of proficiency in various settings.
    Clinical relevance: The Competency Model can be used as a structure for staff orientation, evaluation tools, clinical ladder components, role descriptions and rehabilitation nursing courses.
    MeSH term(s) Clinical Competence/standards ; Education, Nursing, Continuing ; Health Knowledge, Attitudes, Practice ; Humans ; Models, Nursing ; Nurse's Role ; Nursing Staff/standards ; Practice Patterns, Nurses'/standards ; Rehabilitation Nursing/standards
    Language English
    Publishing date 2016-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604872-9
    ISSN 0278-4807 ; 0248-7940
    ISSN 0278-4807 ; 0248-7940
    DOI 10.1002/rnj.225
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    Zs.B 2601: Show issues Location:
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  7. Book: Rap-Revolution

    Dufresne, David / Jacob, Günther

    Geschichte, Gruppen, Bewegung

    (Serie Musik Atlantis, Schott ; 8360)

    1997  

    Title translation Yo! révolution rap <dt.>
    Author's details David Dufresne. Mit einem Update von Günther Jacob
    Series title Serie Musik Atlantis, Schott ; 8360
    Keywords Rap
    Language German ; French
    Size 457 S., Ill., 19 cm
    Edition [2. Aufl.], Taschenbuchausg.
    Publisher Atlantis-Musikbuch-Verl
    Publishing place Zürich u.a.
    Document type Book
    Note Aus dem Franz. übers. ; Literaturverz. S. 454 - 457
    ISBN 3254083601 ; 9783254083609
    Database Former special subject collection: coastal and deep sea fishing

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  8. Article ; Online: Homozygous deletion of Tenascin-R in a patient with intellectual disability.

    Dufresne, David / Hamdan, Fadi F / Rosenfeld, Jill A / Torchia, Beth / Rosenblatt, Bernard / Michaud, Jacques L / Srour, Myriam

    Journal of medical genetics

    2012  Volume 49, Issue 7, Page(s) 451–454

    Abstract: Background: TNR encodes Tenascin-R, an extracellular matrix glycoprotein that is primarily expressed in the central nervous system. Loss of TNR impairs cognition, synaptic plasticity and motor abilities in mice, however its role in human ... ...

    Abstract Background: TNR encodes Tenascin-R, an extracellular matrix glycoprotein that is primarily expressed in the central nervous system. Loss of TNR impairs cognition, synaptic plasticity and motor abilities in mice, however its role in human neurodevelopment and cognition is less clear.
    Methods and results: The authors present the case of a child with intellectual disability and transient choreoathetosis. Array genomic hybridisation revealed a homozygous deletion involving only two genes, including TNR. Sequencing TNR in a cohort of 219 patients with intellectual disability did not identify any potential pathogenic mutations.
    Conclusion: This is the first report of a complete loss of TNR associated with intellectual disability. This study provides evidence of the important role of TNR in brain development and cognition in humans.
    MeSH term(s) Central Nervous System/metabolism ; Comparative Genomic Hybridization/methods ; Female ; Homozygote ; Humans ; Infant ; Intellectual Disability/genetics ; Nucleic Acid Hybridization/genetics ; Oligonucleotide Array Sequence Analysis ; Sequence Analysis, DNA ; Sequence Deletion ; Tenascin/genetics ; Tenascin/metabolism
    Chemical Substances Tenascin ; tenascin R (147604-77-1)
    Language English
    Publishing date 2012-06-22
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2012-100831
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    Zs.A 177: Show issues Location:
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  9. Book: Yo! Rap-Revolution

    Dufresne, David / Jacob, Günther

    Geschichte, Gruppen, Bewegung

    1992  

    Author's details David Dufresne. Mit up-date von Günther Jacob
    Keywords Rap ; Black Power ; Europa ; Gegenkultur ; Geschichte ; Geschichte, 1979 ; Geschichte, 1980-1990 ; HipHop ; Jugendbewegung ; Jugendliche ; Musik ; Protestbewegung ; USA ; Westeuropa
    Language French
    Size 213 S., zahlr. Ill.
    Edition 1. Aufl.
    Publisher Schwinn
    Publishing place Neustadt
    Document type Book
    Note Aus dem Franz. übers.
    ISBN 3925077146 ; 9783925077142
    Database Former special subject collection: coastal and deep sea fishing

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  10. Book: Yo! Rap-Revolution

    Dufresne, David / Jacob, Günther

    Geschichte, Gruppen, Bewegung

    1992  

    Title translation Yo! révolution rap <dt.>
    Author's details David Dufresne. Mit up-date von Günther Jacob
    Keywords Rap ; Black Power ; Europa ; Gegenkultur ; Geschichte ; Geschichte, 1979 ; Geschichte, 1980-1990 ; HipHop ; Jugendbewegung ; Jugendliche ; Musik ; Protestbewegung ; USA ; Westeuropa
    Language German ; French
    Size 213 S., zahlr. Ill.
    Edition 1. Aufl.
    Publisher Schwinn
    Publishing place Neustadt
    Document type Book
    Note Aus dem Franz. übers.
    ISBN 3925077146 ; 9783925077142
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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