ALLMedicine™ Sturge-Weber Syndrome Center
Research & Reviews 256 results
European Journal of Neurology; Dompmartin A, van der Vleuten CJM et. al.
Jun 19th, 2022 - Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by clinical manifestations involving the brain, eye and skin. SWS is commonly caused by somatic mutations in G protein subunit Alpha Q (GNAQ). Subunit Alpha 11 (GNA11) mutation...
https://doi.org/10.1186/s12886-022-02476-x 10.1016/j.jaapos.2009.04.007 10.1007/s10792-016-0412-3 10.1016/j.joco.2018.10.001 10.3109/02713683.2015.1135962 10.1080/13816810.2021.1910963 10.1016/j.pediatrneurol.2019.05.013
BMC Ophthalmology; Yan H, Hu M et. al.
Jun 11th, 2022 - Sturge-Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to...
https://doi.org/10.1007/s10456-022-09841-w 10.1056/NEJMicm1700538 10.1007/s11940-013-0253-6 10.1097/PRS.0000000000001868 10.1001/jamadermatol.2020.4226 10.1016/j.pediatrneurol.2016.10.010 10.1016/S0190-9622(87)80249-9 10.1124/pr.110.003038 10.1056/NEJMoa1213507 10.1038/jhg.2014.95 10.1136/bjophthalmol-2020-317287 10.1055/s-0037-1603515 10.1093/hmg/ddab144 10.1016/j.jid.2019.10.019 10.1074/jbc.M408846200 10.1038/s41587-020-0439-x 10.1186/s13059-014-0550-8 10.1093/bioinformatics/btz931 10.1038/sj.bjc.6601894 10.1006/bbrc.2001.5891 10.1016/j.jid.2015.11.027 10.1016/j.bbrc.2011.10.047 10.1074/jbc.RA118.005291 10.1016/j.bbrc.2005.03.174 10.1161/ATVBAHA.121.316651 10.1001/jamaophthalmol.2018.5141 10.1016/j.jmgm.2017.07.011 10.1016/j.lfs.2016.03.037 10.1001/jamadermatol.2018.4231 10.1016/j.ajhg.2019.09.010 10.1038/modpathol.2016.234
Angiogenesis Galeffi F, Snellings DA et. al.
Jun 1st, 2022 - Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the ...
Neurosurgical Focus; Frank NA, Greuter L et. al.
May 11th, 2022 - Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder presenting mostly with a facial port-wine stain and leptomeningeal angiomatosis. More than 85% of the patients are affected by epilepsy by the age of 2 years. Seizure and symptom contro...
Contrast Media & Molecular Imaging; Lv Y, Liang G et. al.
Apr 29th, 2022 - This study was aimed to evaluate the clinical efficacy of hemangioma resection in the treatment of infantile encephalofacial angiomatosis (Sturge-Weber syndrome, SWS) through magnetic resonance imaging (MRI) images, and intelligent algorithms were...
Clinicaltrials.gov 10 results
Mar 2nd, 2022 - We hope to gain an understanding of the utility of pure CBD used for the treatment of medically refractory epilepsy in SWS in this open-label, safety dose-finding, study. Recent evidence suggests that CBD has multiple, beneficial, effects in patie...
Jan 10th, 2022 - This project will combine advanced neuroimaging with detailed neuro-psychology evaluation, performed in both children and young adults affected by Sturge-Weber syndrome, in order to address two main aims, each of them with two research hypotheses:...
Nov 1st, 2021 - Sirolimus will be administered as an adjunct to all current medications. The impact of sirolimus upon cognitive functioning in Sturge-Weber syndrome is the primary outcome measure. This outcome will be assessed using a panel of testing selected ba...
Sep 8th, 2021 - Aim 1: Develop a longitudinal database of patients with SWS Clinical sites will collect longitudinal data retrospectively on measures of clinical symptoms and medications/treatments for study subjects who participated in the existing BVMC2/SWF reg...
Aug 26th, 2021 - This study is one of three projects of an NIH Rare Disease Clinical Research Consortium focused on brain blood vessel malformations in three different rare diseases. The focus of this project is on Sturge-Weber Syndrome. We plan to improve the fut...
News 14 results
Cuong Le, DO, Joseph Michael Dyer, DO et. al.
Aug 27th, 2019 - The Diagnosis: Phacomatosis Cesioflammea Phacomatosis pigmentovascularis (PPV) encompasses a group of diseases that have a vascular nevus coupled with a pigmented nevus. 1 It is divided into 5 types: Type I is defined by the presence of a vascular.
Oct 29th, 2017 - In high-risk port-wine stain phenotypes – forehead, hemifacial, and median – early referral to a pediatric neurologist is the best way to enable early symptom recognition of Sturge-Weber syndrome (SWS), according to results of a literature review.
Xiaoxiao Catherine Guo, MD, Lisa Ann Blackwood, MD et. al.
Oct 13th, 2017 - The Diagnosis: Phakomatosis Pigmentovascularis With Sturge-Weber Syndrome The erythematous patches were identified as capillary malformations (port-wine stains) and the slate gray pigmentary changes as dermal melanocytosis (Mongolian spots)(Figure.
Nina Poliak, MD, MPH, Anthony Rainey, MD
Oct 2nd, 2017 - Sturge-Weber syndrome (SWS) is a disease of dermatologic, neurologic, and ocular significance. 1 The most distinctive manifestation is facial capillary malformation, commonly referred to as a port-wine stain or nevus flammeus.
Aug 7th, 2017 - CHICAGO – Screening infants with a port-wine stain for Sturge-Weber syndrome (SWS) with a magnetic resonance imaging brain scan had a 23% false-negative rate and actually delayed seizure detection, according to a recent study. When infants with po.