A core outcome domain set for clinical research on capillary malformations (the COSCAM project): an e-Delphi process and consensus meeting
CONCLUSION: We recommend the CDS to be used as a minimum reporting standard in all future CM therapy trials. Our next step will be to select suitable outcome measurement instruments to score the core outcome subdomains.PMID:35762296 | DOI:10.1111/bjd.21723 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - June 28, 2022 Category: Dermatology Authors: Ginger Beau Langbroek Albert Wolkerstorfer Sophie E R Horbach Phyllis I Spuls Kristen M Kelly Susan J Robertson M Ingmar van Raath Firas Al-Niaimi Taro Kono Pablo Boixeda Hans J Laubach Ashraf M Badawi Agneta Troilius Rubin Merete Haedersdal Woraphong Man Source Type: research
A core outcome domain set for clinical research on capillary malformations (the COSCAM project): an e-Delphi process and consensus meeting
CONCLUSION: We recommend the CDS to be used as a minimum reporting standard in all future CM therapy trials. Our next step will be to select suitable outcome measurement instruments to score the core outcome subdomains.PMID:35762296 | DOI:10.1111/bjd.21723 (Source: The British Journal of Dermatology)
Source: The British Journal of Dermatology - June 28, 2022 Category: Dermatology Authors: Ginger Beau Langbroek Albert Wolkerstorfer Sophie E R Horbach Phyllis I Spuls Kristen M Kelly Susan J Robertson M Ingmar van Raath Firas Al-Niaimi Taro Kono Pablo Boixeda Hans J Laubach Ashraf M Badawi Agneta Troilius Rubin Merete Haedersdal Woraphong Man Source Type: research
Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome
Conclusions
GNAQ R183Q occurred in all abnormal scleral tissue of SWS secondary glaucoma. Increased expression of p-ERK and p-JNK in endothelial cells of blood vessels was detected in the abnormal scleral tissue. This study suggests GNAQ R183Q may regulate episcleral vessels of patients with SWS through abnormal activation of ERK and JNK, providing new genetic evidence of pathogenesis of glaucoma in SWS, and the dysplasia of scleral tissue in anterior segment may be used as an early diagnostic method or treatment targets to prevent the development and progression of glaucoma in patients with SWS. (Source: British Journal of Ophthalmology)
Source: British Journal of Ophthalmology - June 22, 2022 Category: Opthalmology Authors: Wu, Y., Peng, C., Huang, L., Xu, L., Ding, X., Liu, Y., Zeng, C., Sun, H., Guo, W. Tags: Open access Original articles - Clinical science Source Type: research
Posterior quadrant disconnection for refractory epilepsy: how I do it
ConclusionPQD is a less invasive surgical option to typical hemispherotomy and hemispherectomy for selected indications of posterior multilobar epilepsy. (Source: Acta Neurochirurgica)
Source: Acta Neurochirurgica - May 17, 2022 Category: Neurosurgery Source Type: research
The choroid plexus as a diagnostic tool in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2022 May 10:S1090-3798(22)00068-X. doi: 10.1016/j.ejpn.2022.05.001. Online ahead of print.NO ABSTRACTPMID:35570118 | DOI:10.1016/j.ejpn.2022.05.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 15, 2022 Category: Neurology Authors: Martino Ruggieri Source Type: research
The choroid plexus as a diagnostic tool in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2022 May 10:S1090-3798(22)00068-X. doi: 10.1016/j.ejpn.2022.05.001. Online ahead of print.NO ABSTRACTPMID:35570118 | DOI:10.1016/j.ejpn.2022.05.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 15, 2022 Category: Neurology Authors: Martino Ruggieri Source Type: research
The choroid plexus as a diagnostic tool in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2022 May 10:S1090-3798(22)00068-X. doi: 10.1016/j.ejpn.2022.05.001. Online ahead of print.NO ABSTRACTPMID:35570118 | DOI:10.1016/j.ejpn.2022.05.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 15, 2022 Category: Neurology Authors: Martino Ruggieri Source Type: research
The choroid plexus as a diagnostic tool in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2022 May 10:S1090-3798(22)00068-X. doi: 10.1016/j.ejpn.2022.05.001. Online ahead of print.NO ABSTRACTPMID:35570118 | DOI:10.1016/j.ejpn.2022.05.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 15, 2022 Category: Neurology Authors: Martino Ruggieri Source Type: research
The choroid plexus as a diagnostic tool in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2022 May 10:S1090-3798(22)00068-X. doi: 10.1016/j.ejpn.2022.05.001. Online ahead of print.NO ABSTRACTPMID:35570118 | DOI:10.1016/j.ejpn.2022.05.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 15, 2022 Category: Neurology Authors: Martino Ruggieri Source Type: research
The choroid plexus as a diagnostic tool in Sturge-Weber syndrome
Eur J Paediatr Neurol. 2022 May 10:S1090-3798(22)00068-X. doi: 10.1016/j.ejpn.2022.05.001. Online ahead of print.NO ABSTRACTPMID:35570118 | DOI:10.1016/j.ejpn.2022.05.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - May 15, 2022 Category: Neurology Authors: Martino Ruggieri Source Type: research
Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis
CONCLUSIONS: Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.PMID:35535828 | DOI:10.3171/2022.2.FOCUS21788 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Nicole Alexandra Frank Ladina Greuter Patricia Elsa Dill Raphael Guzman Jehuda Soleman Source Type: research
Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis
CONCLUSIONS: Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.PMID:35535828 | DOI:10.3171/2022.2.FOCUS21788 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Nicole Alexandra Frank Ladina Greuter Patricia Elsa Dill Raphael Guzman Jehuda Soleman Source Type: research
Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis
CONCLUSIONS: Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.PMID:35535828 | DOI:10.3171/2022.2.FOCUS21788 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Nicole Alexandra Frank Ladina Greuter Patricia Elsa Dill Raphael Guzman Jehuda Soleman Source Type: research
Focal lesionectomy as surgical treatment of epilepsy in patients with Sturge-Weber syndrome: a case-based systematic review and meta-analysis
CONCLUSIONS: Based on the limited literature available, lesionectomy leads to a nonsignificant lower seizure control rate, while postoperative developmental or motor deficits are significantly lower compared with hemispherectomy. Therefore, focal lesionectomy remains a valid alternative to hemispherectomy in SWS with a clearly localized epileptogenic area; however, individual case-based decisions in a specialized multidisciplinary team are of paramount importance.PMID:35535828 | DOI:10.3171/2022.2.FOCUS21788 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Nicole Alexandra Frank Ladina Greuter Patricia Elsa Dill Raphael Guzman Jehuda Soleman Source Type: research
