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Article ; Online: Erratum. Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity.

Dudley, Roy W R

2023 Volume 32, Issue 5, Page(s) 623

Language	English
Publishing date	2023-08-04
Publishing country	United States
Document type	Journal Article ; Published Erratum
ZDB-ID	2403985-8
ISSN	1933-0715 ; 1933-0707
ISSN (online)	1933-0715
ISSN	1933-0707
DOI	10.3171/2023.7.PEDS22287a
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Uk I Zs.135 -Pediatrics-: Show issues

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Article ; Online: Delayed recovery from severe refractory intracranial hypertension due to expansion of skin and pericranium stretch after decompressive craniectomy.

Cunan, Ellery T / Dudley, Roy W R / Shemie, Sam D

Canadian journal of anaesthesia = Journal canadien d'anesthesie

2023 Volume 70, Issue 4, Page(s) 796–801

Abstract: Purpose: Decompressive craniectomy immediately reduces intracranial pressure by increasing space to accommodate brain volumes. Any delay in reduction of pressure and signs of severe intracranial hypertension requires explanation.: Clinical features: ... ...

Title translation	Récupération retardée à la suite d’une hypertension intracrânienne réfractaire sévère due à une expansion de la peau et à un étirement péricrânien après une craniectomie décompressive.
Abstract	Purpose: Decompressive craniectomy immediately reduces intracranial pressure by increasing space to accommodate brain volumes. Any delay in reduction of pressure and signs of severe intracranial hypertension requires explanation. Clinical features: We present the case of a 13-yr-old boy presenting with a ruptured arteriovenous malformation resulting in a massive occipito-parietal hematoma and increased intracranial pressure (ICP) refractory to medical management. This patient ultimately underwent a decompressive craniectomy (DC) for alleviation of increased ICP, despite which the patient's hemorrhage continued to worsen to the point of brainstem areflexia suggestive of possible progression to brain death. Within hours of the decompressive craniectomy, the patient displayed a relatively sudden, marked improvement in clinical status, most notably a return in pupillary reactivity and significant decrease in measured ICP. A review of postoperative images after the decompressive craniectomy suggested increases in brain volume that continued beyond the initial postoperative period. Conclusion: We urge caution to be taken in the interpretation of the neurologic examination and measured ICP in the context of a decompressive craniectomy. In the patient described in this Case Report, we propose that ongoing expansion of brain volume following a decompressive craniectomy beyond the initial postoperative period, possibly secondary to the stretch of skin or pericranium (used as a dural substitute for expansile duraplasty), can explain further clinical improvements beyond the initial postoperative period. We call for routine serial analyses of brain volumes after decompressive craniectomy to confirm these findings.
MeSH term(s)	Male ; Humans ; Decompressive Craniectomy/adverse effects ; Decompressive Craniectomy/methods ; Intracranial Hypertension/etiology ; Intracranial Hypertension/surgery ; Intracranial Pressure ; Hematoma ; Treatment Outcome
Language	English
Publishing date	2023-05-02
Publishing country	United States
Document type	Case Reports ; Review ; Journal Article
ZDB-ID	91002-8
ISSN	1496-8975 ; 0832-610X
ISSN (online)	1496-8975
ISSN	0832-610X
DOI	10.1007/s12630-023-02429-y
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Zs.A 109: Show issues

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Article ; Online: In reply: Withholding therapeutic interventions in brain(stem) death: is it a self-fulfilling prophecy?

Cunan, Ellery T / Dudley, Roy W R / Shemie, Sam D

Canadian journal of anaesthesia = Journal canadien d'anesthesie

2022 Volume 69, Issue 11, Page(s) 1439–1440

MeSH term(s)	Humans ; Brain
Language	English
Publishing date	2022-09-12
Publishing country	United States
Document type	Letter ; Comment
ZDB-ID	91002-8
ISSN	1496-8975 ; 0832-610X
ISSN (online)	1496-8975
ISSN	0832-610X
DOI	10.1007/s12630-022-02326-w
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Zs.A 109: Show issues

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Article ; Online: Decompressive craniectomy as a potentially reversible condition in brain death-brain stunning or skin and pericranium stretching?

Cunan, Ellery T / Dudley, Roy / Shemie, Sam D

Canadian journal of anaesthesia = Journal canadien d'anesthesie

2022 Volume 69, Issue 7, Page(s) 811–814

Title translation	La craniectomie décompressive en tant que condition potentiellement réversible dans la mort cérébrale – étourdissement du cerveau ou étirement de la peau et du péricrâne?
MeSH term(s)	Brain ; Brain Death ; Confusion ; Decompressive Craniectomy ; Humans ; Retrospective Studies ; Treatment Outcome
Language	English
Publishing date	2022-05-10
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	91002-8
ISSN	1496-8975 ; 0832-610X
ISSN (online)	1496-8975
ISSN	0832-610X
DOI	10.1007/s12630-022-02264-7
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Zs.A 109: Show issues

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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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Ui II Zs.40: Show issues

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Article ; Online: GABA

Cattani, Adriano / Wang, Siyan / Lévesque, Maxime / Farmer, Jean-Pierre / Dudley, Roy William Roland / Avoli, Massimo

Current research in neurobiology

2023 Volume 5, Page(s) 100117

Abstract: ... The ... ...

Abstract	The K
Language	English
Publishing date	2023-11-17
Publishing country	Netherlands
Document type	Journal Article
ISSN	2665-945X
ISSN (online)	2665-945X
DOI	10.1016/j.crneur.2023.100117
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Article ; Online: Biased intelligence: on the subjectivity of digital objectivity.

Moreau, Jeremy T / Baillet, Sylvain / Dudley, Roy Wr

BMJ health & care informatics

2020 Volume 27, Issue 3

MeSH term(s)	Artificial Intelligence ; Bias ; Biomedical Technology ; Datasets as Topic ; Decision Making ; Humans ; Privacy
Language	English
Publishing date	2020-08-24
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2632-1009
ISSN (online)	2632-1009
DOI	10.1136/bmjhci-2020-100146
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Article ; Online: Subtle magnetic resonance imaging differences in tegmental pilocytic astrocytomas as a caution against attempting gross-total resection: illustrative cases.

Al-Saadi, Tariq / Albrecht, Steffen / Farmer, Jean-Pierre / Toffoli, Daniela / Saint-Martin, Christine / Jabado, Nada / Dudley, Roy W R

Journal of neurosurgery. Case lessons

2023 Volume 5, Issue 4

Abstract: Background: Although surgery within the tegmentum of the midbrain is challenging, resection of tegmental pilocytic astrocytomas (PAs) is a standard treatment because this has been shown to outperform chemotherapy and radiotherapy in terms of long-term ... ...

Abstract	Background: Although surgery within the tegmentum of the midbrain is challenging, resection of tegmental pilocytic astrocytomas (PAs) is a standard treatment because this has been shown to outperform chemotherapy and radiotherapy in terms of long-term tumor control. Gross total resection (GTR) assisted by intraoperative neuroelectrophysiological monitoring can be achieved with a reasonable risk-to-benefit ratio, especially for well-circumscribed tumors, but careful scrutiny of magnetic resonance imaging (MRI) is critical to surgical decision making. The authors present two cases of tegmental PAs, which appeared grossly similar on MRI and were operated on via the same surgical approach using the same intraoperative adjuncts. Observations: The tumors had identical histopathological and molecular diagnoses but drastically different functional outcomes for the patients, with significant long-term complications for one of the children, which the authors believe was due to a slightly more invasive nature of this tumor. The authors demonstrate subtle preoperative MRI findings that might be potential clues to a more infiltrative nature of one PA versus another and present pathological findings supporting this argument. Lessons: This report serves as a reminder that not all tegmental PAs can be managed by the same surgical approach. Subtle signs of infiltration may indicate that GTR should not be attempted.
Language	English
Publishing date	2023-01-23
Publishing country	United States
Document type	Journal Article
ISSN	2694-1902
ISSN (online)	2694-1902
DOI	10.3171/CASE22358
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Article ; Online: Systematic comparison of culture media uncovers phenotypic shift of primary human microglia defined by reduced reliance to CSF1R signaling.

Dorion, Marie-France / Yaqubi, Moein / Murdoch, Hunter J / Hall, Jeffery A / Dudley, Roy / Antel, Jack P / Durcan, Thomas Martin / Healy, Luke Michael

Glia

2023 Volume 71, Issue 5, Page(s) 1278–1293

Abstract: Efforts to understand microglia function in health and diseases have been hindered by the lack of culture models that recapitulate in situ cellular properties. In recent years, the use of serum-free media with brain-derived growth factors (colony ... ...

Abstract	Efforts to understand microglia function in health and diseases have been hindered by the lack of culture models that recapitulate in situ cellular properties. In recent years, the use of serum-free media with brain-derived growth factors (colony stimulating factor 1 receptor [CSF1R] ligands and TGF-β1/2) have been favored for the maintenance of rodent microglia as they promote morphological features observed in situ. Here we study the functional and transcriptomic impacts of such media on human microglia (hMGL). Media formulation had little impact on microglia transcriptome assessed by RNA sequencing which was sufficient to significantly alter microglia capacity to phagocytose myelin debris and to elicit an inflammatory response to lipopolysaccharide. When compared to immediately ex vivo microglia from the same donors, the addition of fetal bovine serum to culture media, but not growth factors, was found to aid in the maintenance of key signature genes including those involved in phagocytic processes. A phenotypic shift characterized by CSF1R downregulation in culture correlated with a lack of reliance on CSF1R signaling for survival. Consequently, no improvement in cell survival was observed following culture supplementation with CSF1R ligands. Our study provides better understanding of hMGL in culture, with observations that diverge from those previously made in rodent microglia.
MeSH term(s)	Humans ; Microglia/metabolism ; Culture Media/metabolism ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/genetics ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/metabolism ; Receptor Protein-Tyrosine Kinases/metabolism ; Signal Transduction ; Receptors, Colony-Stimulating Factor/metabolism
Chemical Substances	Culture Media ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1) ; Receptors, Colony-Stimulating Factor
Language	English
Publishing date	2023-01-21
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639414-0
ISSN	1098-1136 ; 0894-1491
ISSN (online)	1098-1136
ISSN	0894-1491
DOI	10.1002/glia.24338
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Zs.A 2345: Show issues

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Article ; Online: Spontaneous resolution of post-hemorrhagic ventricular dilatation in preterm newborns and neurodevelopment.

Groulx-Boivin, Emilie / Paquette, Mariane / Khairy, May / Beltempo, Marc / Dudley, Roy / Ferrand, Amaryllis / Guillot, Mireille / Bizgu, Victoria / Garfinkle, Jarred

Pediatric research

2023 Volume 94, Issue 4, Page(s) 1428–1435

Abstract: Background: We investigated the temporal evolution of post-hemorrhagic ventricular dilatation (PHVD) and compared neurodevelopmental impairments (NDI) in newborns with (Group 1) spontaneous resolution of PHVD, (Group 2) persistent PHVD without ... ...

Abstract	Background: We investigated the temporal evolution of post-hemorrhagic ventricular dilatation (PHVD) and compared neurodevelopmental impairments (NDI) in newborns with (Group 1) spontaneous resolution of PHVD, (Group 2) persistent PHVD without neurosurgical intervention, and (Group 3) progressive PHVD receiving neurosurgical intervention. Methods: A multicenter retrospective cohort study of newborns born at ≤34 weeks with PHVD (ventricular index [VI] >97th centile for gestational age and anterior horn width [AHW] >6 mm) from 2012 to 2020. Severe NDI was defined as global developmental delay or cerebral palsy GMFCS III-V at 18 months. Results: Of 88 survivors with PHVD, 39% had a spontaneous resolution, 17% had persistent PHVD without intervention, and 44% had progressive PHVD receiving intervention. The median time between PHVD diagnosis and spontaneous resolution was 14.0 days (IQR 6.8-32.3) and between PHVD diagnosis and first neurosurgical intervention was 12.0 days (IQR 7.0-22.0). Group 1 had smaller median maximal VI (1.8, 3.4, 11.1 mm above p97; p < 0.001) and AHW (7.2, 10.8, 20.3 mm; p < 0.001) than Groups 2 and 3. Neurodevelopmental outcome data were available for 82% of survivors. Group 1 had reduced severe NDI compared to Group 3 (15% vs 66%; p < 0.001). Conclusion: Newborns with PHVD without spontaneous resolution are at higher risk for impairments despite neurosurgical interventions, which may be due to larger ventricular dilatation. Impact: The natural evolution of post-hemorrhagic ventricular dilatation (PHVD) and developmental implications of spontaneous resolution are not well established. In this study, approximately one in three newborns with PHVD experienced spontaneous resolution and this subset of newborns had reduced rates of neurodevelopmental impairments. More prominent ventricular dilatation was associated with reduced rates of spontaneous resolution and increased rates of severe neurodevelopmental impairment among newborns with PHVD. Understanding clinically relevant time points in the evolution of PHVD and predictors of spontaneous resolution may help inform the discussion around the optimal timing for intervention and allow for more precise prognostication in this population.
MeSH term(s)	Infant, Newborn ; Humans ; Infant, Premature ; Retrospective Studies ; Cerebral Hemorrhage/complications ; Cerebral Ventricles ; Dilatation ; Infant, Premature, Diseases/diagnosis ; Hydrocephalus
Language	English
Publishing date	2023-05-13
Publishing country	United States
Document type	Multicenter Study ; Journal Article
ZDB-ID	4411-8
ISSN	1530-0447 ; 0031-3998
ISSN (online)	1530-0447
ISSN	0031-3998
DOI	10.1038/s41390-023-02647-6
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Zs.A 564: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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