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- Arnljots, U, et al.
(författare)
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Optical Coherence Tomography Identifies Visual Pathway Involvement Earlier than Visual Function Tests in Children with MRI-Verified Optic Pathway Gliomas
- 2022
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 14:2
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Tidskriftsartikel (refereegranskat)abstract
- This study investigates whether optical coherence tomography (OCT) could add useful information in the examination of children with optic pathway glioma (OPG) at high risk of developing vision loss. For this purpose, the relationship between ganglion cell-inner plexiform layer (GC-IPL) thickness and visual function, evaluated with tests of visual acuity (VA) and visual field (VF), as well as tumor site according to magnetic resonance imaging (MRI), were examined in a geographically defined group of children with OPG. Methods: Children aged <18 years with OPG underwent ophthalmic examination including VA, VF (Zeiss HFA perimetry) and OCT imaging (Zeiss Cirrus HD-OCT). Results: Out of 51 patients included, 45 provided 77 eyes with MRI-verified OPG, and 19 patients provided 25 eyes without OPG. Significant correlations were found between GC-IPL, VF and VA (p < 0.001). The GC-IPL pattern loss corresponded in 95% to VF defects and in 92% to MRI findings. Conclusions: Our study indicates that GC-IPL measures could serve as an early marker of vision-threatening changes related to OPG and as a valuable link between MRI and visual function tests. Thinning of GC-IPL and differences in topography between eyes are strong indicators of and predictive of vision loss related to OPG.
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- Cadieux-Dion, M, et al.
(författare)
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Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy
- 2020
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Ingår i: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. - : Cambridge University Press (CUP). - 0317-1671 .- 2057-0155. ; 47:6, s. 800-809
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Tidskriftsartikel (refereegranskat)abstract
- Purpose:Our purpose was to determine the role of CHRNA4 and CHRNB2 in insular epilepsy.Method:We identified two patients with drug-resistant predominantly sleep-related hypermotor seizures, one harboring a heterozygous missense variant (c.77C>T; p. Thr26Met) in the CHRNB2 gene and the other a heterozygous missense variant (c.1079G>A; p. Arg360Gln) in the CHRNA4 gene. The patients underwent electrophysiological and neuroimaging studies, and we performed functional characterization of the p. Thr26Met (c.77C>T) in the CHRNB2 gene.Results:We localized the epileptic foci to the left insula in the first case (now seizure-free following epilepsy surgery) and to both insulae in the second case. Based on tools predicting the possible impact of amino acid substitutions on the structure and function of proteins (sorting intolerant from tolerant and PolyPhen-2), variants identified in this report could be deleterious. Functional expression in human cell lines of α4β2 (wild-type), α4β2-Thr26Met (homozygote), and α4β2/β2-Thr26Met (heterozygote) nicotinic acetylcholine receptors revealed that the mutant subunit led to significantly higher whole-cell nicotinic currents. This feature was observed in both homo- and heterozygous conditions and was not accompanied by major alterations of the current reversal potential or the shape of the concentration-response relation.Conclusions:This study suggests that variants in CHRNB2 and CHRNA4, initially linked to autosomal dominant nocturnal frontal lobe epilepsy, are also found in patients with predominantly sleep-related insular epilepsy. Although the reported variants should be considered of unknown clinical significance for the moment, identification of additional similar cases and further functional studies could eventually strengthen this association.
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- Eijkholt, M, et al.
(författare)
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Should neurosurgeons continue to work in the absence of personal protective equipment during the COVID-19 era?
- 2021
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Ingår i: Acta neurochirurgica. - : Springer Science and Business Media LLC. - 0942-0940 .- 0001-6268. ; 163:3, s. 593-598
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Tidskriftsartikel (refereegranskat)abstract
- The COVID-19 pandemic has resulted in a widespread shortage of personal protective equipment (PPE). Many healthcare workers, including neurosurgeons, have expressed concern about how to safely and adequately perform their medical responsibilities in these challenging circumstances. One of these concerns revolves around the pressing question: should providers continue to work in the absence of adequate PPE? Although the first peak of the COVID-19 crisis seems to have subsided and supply of PPE has increased, concerns about insufficient PPE availability remain. Inconsistent supply, limited efficacy, and continued high demand for PPE, combined with the continued threat of a second COVID-19 wave, mean that the issues surrounding PPE availability remain unresolved, including a duty to work. This paper offers an ethical investigation of whether neurosurgeons should perform their professional responsibilities with limited availability of PPE. We evaluate ethical considerations and conflicting duties and thereby hope to facilitate providers in making a well-considered personal and moral decision about this challenging issue.
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