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sturge weber syndrome

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https://www.readbyqxmd.com/read/28584769/sturge-weber-syndrome-with-choroidal-hemangioma
#1
Koushik Tripathy, Anupam Das, Sweta Subhadarshani
No abstract text is available yet for this article.
May 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28580218/cryotherapy-as-a-conservative-treatment-modality-for-gingival-enlargement-in-a-patient-with-sturge-weber-syndrome
#2
Vikender Singh Yadav, Souvik Chakraborty, Shikha Tewari, Nitesh Tewari, Tuhina Ghosh
This case report describes a case of Sturge-Weber syndrome reported for unilateral gingival enlargement and bleeding from gingiva in maxillary left region. Initial treatment in the form of scaling and root planing was done but recurrence was observed after one year of follow up. Instead of performing conventional surgery, an alternative conservative treatment was planned in the form of cryotherapy with the help of closed nitrous oxide probe. Seeing the satisfactory results obtained, cryotherapy can be suggested as an atraumatic, bloodless and effective chair side procedure for treating vascular gingival enlargement...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28571101/gnaq-mutation-in-the-venous-vascular-malformation-and-underlying-brain-tissue-in-sturge-weber-syndrome
#3
Senthil K Sundaram, Sharon K Michelhaugh, Neil V Klinger, William J Kupsky, Sandeep Sood, Harry T Chugani, Sandeep Mittal, Csaba Juhász
No abstract text is available yet for this article.
June 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28541265/optical-coherence-tomography-visualization-of-a-port-wine-stain-in-a-patient-with-sturge-weber-syndrome
#4
Adam S Aldahan, Lucy L Chen, John P Tsatalis, James M Grichnik
No abstract text is available yet for this article.
June 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28459499/potential-biological-targets-for-bioassay-development-in-drug-discovery-of-sturge-weber-syndrome
#5
REVIEW
Fatemeh Mohammadipanah, Fatemeh Salimi
Sturge-Weber Syndrome (SWS) is among the neurocutaneous diseases, which has several clinical manifestations of ocular (glaucoma), cutaneous (port-wine stain), neurological (seizures) and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for the SWS and treatment options only mitigate the intensity of its clinical manifestations. Biological assay design for drug discovery against this syndrome demands comprehensive knowledge on mechanisms which are involved in its pathogenesis...
April 29, 2017: Chemical Biology & Drug Design
https://www.readbyqxmd.com/read/28454984/cannabidiol-treatment-for-refractory-seizures-in-sturge-weber-syndrome
#6
Emma H Kaplan, Elizabeth A Offermann, Jacqueline W Sievers, Anne M Comi
BACKGROUND: Sturge-Weber syndrome results in leptomeningeal vascular malformations, medically refractory epilepsy, stroke(s), and cognitive impairments. Cannabidiol, a cannabinoid without psychoactive properties, has been demonstrated in preclinical models to possibly have anticonvulsant, antioxidant, and neuroprotective actions. METHODS: Five subjects with Sturge-Weber syndrome brain involvement and treatment-resistant epilepsy were enrolled. Motor seizure frequency, quality of life, and adverse events were recorded from the eighth week of the pretreatment period, eight weeks after starting maintenance dose (week 14), and the most recent visit...
February 22, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28454448/gnaq-mutation-r183q-as-a-potential-cause-of-familial-sturge-weber-syndrome-a-case-report
#7
Zhengyi Huang, Yuchi Li, Zengxia Zhao, Jun Hu, Xiaoxin Tong, Xuhui Chen, Shuyun Liu, Xiaonan Xu, Yongjun Tao, Tingting Wang, Xin Cheng, Yangyang Dai, Yaoting Gui, Jun Wu
Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder whose etiology remains unclear. To investigate the genetic contribution underlying this disease, the genetic variants of a 4-generation family with a history of SWS was analyzed in the present study. SWS was diagnosed in 3 of the family members (II-1, III-11 and IV-6). Sanger sequencing was performed to identify mutations in G protein subunit αq (GNAQ) and RAS p21 protein activator 1 exons in the 3 patients with SWS and other unaffected family members...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28453367/retinal-pigment-epithelium-photoreceptor-layer-alterations-in-a-patient-with-sturge-weber-syndrome-with-diffuse-choroidal-hemangioma
#8
Solmaz Abdolrahimzadeh, Francesco Parisi, Flavio Mantelli, Andrea Perdicchi, Gianluca Scuderi
PURPOSE: To describe an 8-year-old girl with diagnosis of Sturge-Weber syndrome (SWS) presenting with glaucoma, abnormal iris vessels, diffuse choroidal hemangioma, and small white dot-shaped "microdrusen-like" alterations of the retina in the right eye. PATIENT AND METHODS: Complete ophthalmological examination was performed with slit-lamp anterior segment assessment and fundus ophthalmoscopy. Near infrared reflectance (NIR) and enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) were carried out...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28450688/a-case-of-55-year-old-man-with-first-ever-generalized-seizure-diagnosed-with-sturge-weber-syndrome-type-iii-by-characteristic-mri-findings
#9
Hidehiro Ishikawa, Yuichiro Ii, Atsushi Niwa, Keita Matsuura, Masayuki Maeda, Hidekazu Tomimoto
A 55-year-old man with no mental retardation had presented a history of frequent transient clumsiness of his right upper and lower extremities for about 20 years. He was admitted to a general hospital with weakness of right side of the body, and first-ever generalized seizure attack occurred the next day. Brain CT showed calcification in the left cerebral cortices. So he was referred to our hospital. On neurological examination, he had mild clumsiness of his right upper limb and right pyramidal tract sign. He had neither facial port-wine stain nor glaucoma...
April 27, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28448293/trabeculectomy-or-transscleral-cyclophotocoagulation-as-initial-treatment-of-secondary-childhood-glaucoma-in-northern-tanzania
#10
Achim Fieß, Peter Shah, Freda Sii, Furahini Godfrey, Joe Abbott, Richard Bowman, Jacqueline Bauer, Stefan Dithmar, Heiko Philippin
PURPOSE: The purpose is to describe the outcome of trabeculectomy with transscleral cyclophotocoagulation (TSCPC) as an initial intervention for secondary childhood glaucoma in Northern Tanzania. METHODS: A retrospective, consecutive case series was analyzed of all children with secondary childhood glaucoma who underwent initial trabeculectomy or TSCPC between 2000 and 2013 at a referral eye unit in Northern Tanzania. Retrospective data were collected on causes of glaucoma, intraocular pressure (IOP), visual acuity, complications, and subsequent interventions...
April 26, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28397986/clinical-and-metabolic-correlates-of-cerebral-calcifications-in-sturge-weber-syndrome
#11
Vinod K Pilli, Michael E Behen, Jiani Hu, Yang Xuan, James Janisse, Harry T Chugani, Csaba Juhász
AIM: To evaluate clinical and metabolic correlates of cerebral calcifications in children with Sturge-Weber syndrome (SWS). METHOD: Fifteen children (11 females, four males; age range 7mo-9y, mean 4y 1mo) with unilateral SWS underwent baseline and follow-up magnetic resonance imaging (MRI) with susceptibility weighted imaging (SWI), glucose metabolism positron emission tomography (PET), and neurocognitive assessment (mean follow-up 1y 8mo). Calcified brain volumes measured on SWI were correlated with areas of abnormal glucose metabolism, seizure variables, and cognitive function (IQ)...
April 11, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28384923/sturge-weber-syndrome
#12
Bharath A Chhabria, Prasanth Bala Subramanium, Ram Nampoothiri, Ashish Bhalla, Subhash Varma
No abstract text is available yet for this article.
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28367137/epilepsy-mechanisms-in-neurocutaneous-disorders-tuberous-sclerosis-complex-neurofibromatosis-type-1-and-sturge-weber-syndrome
#13
REVIEW
Carl E Stafstrom, Verena Staedtke, Anne M Comi
Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28257339/symri-of-the-brain-rapid-quantification-of-relaxation-rates-and-proton-density-with-synthetic-mri-automatic-brain-segmentation-and-myelin-measurement
#14
Akifumi Hagiwara, Marcel Warntjes, Masaaki Hori, Christina Andica, Misaki Nakazawa, Kanako Kunishima Kumamaru, Osamu Abe, Shigeki Aoki
Conventional magnetic resonance images are usually evaluated using the image signal contrast between tissues and not based on their absolute signal intensities. Quantification of tissue parameters, such as relaxation rates and proton density, would provide an absolute scale; however, these methods have mainly been performed in a research setting. The development of rapid quantification, with scan times in the order of 6 minutes for full head coverage, has provided the prerequisites for clinical use. The aim of this review article was to introduce a specific quantification method and synthesis of contrast-weighted images based on the acquired absolute values, and to present automatic segmentation of brain tissues and measurement of myelin based on the quantitative values, along with application of these techniques to various brain diseases...
March 3, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28250072/neurocutaneous-disorders-in-children
#15
Bruce R Korf, E Martina Bebin
Neurofibromatosis (NF), including type 1 (NF1), type 2 (NF2), and schwannomatosis; tuberous sclerosis complex (TSC); and Sturge-Weber syndrome are 3 neurocutaneous disorders that typically present in childhood. Early recognition by the pediatrician can be critical to surveillance for treatable complications and genetic counseling. These conditions are diagnosed clinically, but genetic testing is available to clarify an uncertain diagnosis or help with genetic counseling. Although many of the complications can only be treated symptomatically, advances in understanding of the pathogenesis are opening new approaches to molecularly targeted therapeutics, which promise to alter the natural history of the conditions in the years to come...
March 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28192836/-optical-coherence-tomography-oct-in-diffuse-choroidal-haemangioma-in-sturge-weber-syndrome-treated-with-photodynamic-therapy
#16
B M Stoffelns, P Laspas
No abstract text is available yet for this article.
April 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28146369/evisceration-in-patients-with-sturge-weber-syndrome
#17
Helen Merritt, Margaret L Pfeiffer, Margaret E Phillips, Karina Richani
The management of blind, painful eyes in Sturge-Weber syndrome patients poses unique challenges to the oculoplastic surgeon. Intraocular and orbital vascular malformations and calcification may theoretically lead to unexpected hemorrhage and difficulty placing an implant in a calcified scleral shell. We present two cases of patients with Sturge-Weber syndrome with blind, painful eyes who underwent evisceration with silicone implant and discuss the relevant current literature. Both of our patients had uncomplicated surgeries and post-operative courses...
February 2017: Orbit
https://www.readbyqxmd.com/read/28126187/sturge-weber-syndrome-a-review
#18
E Higueros, E Roe, E Granell, E Baselga
Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder caused by a somatic activating mutation in GNAQ; it affects 1 in every 20,000 to 50,000 newborns. It is characterized by a facial Port-wine stain, leptomeningeal angiomatosis, and glaucoma. Seizures are the most common neurological manifestation and typically present in the first months of life. Glaucoma may be present at birth or develop later. Neuroimaging studies show leptomeningeal angiomatosis, supporting diagnosis. Standard treatment for Sturge-Weber syndrome includes laser treatment for the Port-wine stain, anticonvulsants, and medical or surgical treatment for the glaucoma...
June 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28079102/corrigendum-ultra-sensitive-droplet-digital-pcr-for-detecting-a-low-prevalence-somatic-gnaq-mutation-in-sturge-weber-syndrome
#19
Yuri Uchiyama, Mitsuko Nakashima, Satoshi Watanabe, Masakazu Miyajima, Masataka Taguri, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Hiroyuki Mishima, Akira Kinoshita, Hajime Arai, Ko-Ichiro Yoshiura, Naomichi Matsumoto
No abstract text is available yet for this article.
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070151/imaging-of-glutamate-concentration-in-sturge-weber-syndrome
#20
COMMENT
Tracy S Gertler, Cynthia V Stack
Investigators from Wayne State University studied a cohort of children with Sturge-Weber syndrome (SWS) and epilepsy using both glucose-based positron emission tomography (FDG-PET) to evaluate metabolic activity and proton magnetic resonance spectroscopic imaging (MRSI) to evaluate glutamate turnover.
January 2017: Pediatric neurology briefs
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