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Sturge-Weber Syndrome

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1. Acute primary angle-closure in Sturge-Weber syndrome (PubMed)

Acute primary angle-closure in Sturge-Weber syndrome Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by facial cutaneous venous dilatation (port-wine stain), leptomeningeal angioma, and ocular abnormalities. Here we report a case of SWS who experienced acute primary angle-closure in the same side of the nevus flammeus.A 64-years-old female patient with SWS port wine stain on the left side of her face was referred to our ER for acute primary angle-closure (PAC). The IOP

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2018 American journal of ophthalmology case reports

2. Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. (PubMed)

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. We aimed to evaluate the contribution of early magnetic resonance imaging (MRI) for the presymptomatic diagnosis of Sturge-Weber syndrome (SWS) in infants with a facial port-wine birthmark (PWB).Asymptomatic infants with a facial PWB who performed a first MRI scan before 3 months and a second MRI scan after 9 months were included in this study. Leptomeningeal (...) markers provide early diagnosis of leptomeningeal angioma in Sturge-Weber syndrome (SWS). Presymptomatic diagnosis of SWS should help to select patients for early therapy intervention.© 2019 Mac Keith Press.

2019 Developmental Medicine and Child Neurology

3. Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. (PubMed)

Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. Sturge-Weber syndrome (SWS) is a rare and sporadic congenital neurocutaneous disorder, that is characterized by facial venous capillary malformation (port-wine birthmark), leptomeningeal venous malformation (angiomatosis), glaucoma, and neurologic problems. SWS can comorbid with other disorders in some patients, however, muscular abnormalities have still not been reported in patients with SWS.A forty-one-year

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2019 BMC Neurology

4. Ocular manifestations of Sturge-Weber syndrome. (PubMed)

Ocular manifestations of Sturge-Weber syndrome. Sturge-Weber syndrome (SWS) is a rare, congenital disease which frequently involves the eye. It is important that ophthalmologists recognize this syndrome and are aware of its range of ocular manifestations. The aim of this article is to present our understanding of the pathogenesis and clinical manifestations of this syndrome and provide updated information on the treatment of SWS glaucoma and choroidal hemangioma.SWS glaucoma usually fails

2019 Current Opinion in Ophthalmology

5. Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control. (PubMed)

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control. To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need.An online patient questionnaire was completed by 628 patients with clinically diagnosed SWS and/or a port-wine birthmark over a 19-year period. Statistical analysis focused on seizures as a primary outcome measure, as well

2019 Journal of Pediatrics

6. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome (PubMed)

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis.We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations.Low levels of the GNAQ mutation were detected in the brain

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2018 Neurology: Genetics

7. Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome (PubMed)

Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome Sturge-Weber syndrome (SWS) is a neurocutaneous disorder, characterized by leptomeningeal angiomas involving the oral cavity, trachea, larynx, and face. Herein, we present a case of vitrectomy in a seven-year-old boy with SWS. The patient showed hemangioma on the left side of his face, as well as mental retardation and epilepsy. Preoperative examination revealed no apparent hemangioma in the oral cavity, pharynx, larynx

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2018 Tanaffos

8. Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome (PubMed)

Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome To compare the efficacy and safety of collagen matrix implant [Ologen (OLO) implant] versus mitomycin C (MMC) with subscleral trabeculectomy (SST) for the surgical treatment of congenital glaucoma (CG) in Sturge-Weber Syndrome (SWS).A prospective comparative randomized study of 20 eyes of 16 patients with CG associated with SWS was divided into two groups. The first group (MMC Group

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2018 International journal of ophthalmology

9. Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome

Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Trial of Sirolimus (...) for Cognitive Impairment in Sturge-Weber Syndrome The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03047980 Recruitment Status : Recruiting First Posted : February 9, 2017 Last Update Posted : January 8, 2019 See Sponsor: Anne

2017 Clinical Trials

10. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. (PubMed)

Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability.Fifty-one patients with SWS with facial birthmarks and brain involvement documented on magnetic resonance imaging were included in this retrospective chart review. A neuroradiologist, blinded to all clinical information, assigned a previously

2017 Journal of Pediatrics

11. Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. (PubMed)

Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. To evaluate the intermediate-term efficacy and safety of trabeculotomy in infant Sturge-Weber syndrome (SWS).Retrospective cohort study.All SWS-induced glaucoma patients less than 12 months of age who underwent trabeculotomy at our Ophthalmology Department from August 2011 to March 2017 were reviewed. Baseline demographics, intraocular pressure (IOP), cup-to-disc ratio (C/D), and cornea diameters were noted before surgery

2017 American Journal of Ophthalmology

12. Clinical and metabolic correlates of cerebral calcifications in Sturge-Weber syndrome. (PubMed)

Clinical and metabolic correlates of cerebral calcifications in Sturge-Weber syndrome. To evaluate clinical and metabolic correlates of cerebral calcifications in children with Sturge-Weber syndrome (SWS).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

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2017 Developmental Medicine and Child Neurology

13. GNAQ mutation R183Q as a potential cause of familial Sturge-Weber syndrome: A case report (PubMed)

GNAQ mutation R183Q as a potential cause of familial Sturge-Weber syndrome: A case report 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

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2017 Oncology letters

14. Cryotherapy as a conservative treatment modality for gingival enlargement in a patient with Sturge-Weber Syndrome (PubMed)

Cryotherapy as a conservative treatment modality for gingival enlargement in a patient with Sturge-Weber Syndrome 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

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2017 Intractable & rare diseases research

15. Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber syndrome (PubMed)

Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber syndrome The reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD's ability to predict neurological progression is unknown.In 14 individuals with SWS, TCD measured mean flow velocity, pulsatility index, peak systolic velocity, and end-diastolic velocity in the middle, posterior, and anterior cerebral arteries of the affected and unaffected hemisphere

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2017 Pediatric Neurology

16. Sturge Weber Syndrome: A Case Study (PubMed)

Sturge Weber Syndrome: A Case Study The aim of this case review was to touch upon the various clinical presentations and diagnostic features of Sturge-Weber syndrome (SWS) as seen in the dental/medical practice. Sturge-Weber syndrome is a rare congenital disorder that belongs to a group of disorders collectively known as the phakomatoses. The characteristic pathological elements of the disease include leptomeninges angioma extending out to cerebral cortex with angiomatous lesions on the same (...) of SWS in order to identify and manage it appropriately. The challenge here is to see the oral manifestation as part of the syndrome and not as an isolated oral condition. Early diagnosis and appropriate treatment plan is imperative to prevent development of complications.

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2017 Journal of clinical and diagnostic research : JCDR

17. Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum (PubMed)

Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum A 9-year-old boy with the diagnosis of Sturge-Weber Syndrome, and port-wine stain involving the right side of the face, presented with acute visual loss of the right eye. Examination revealed a high intraocular pressure and a combined cilioretinal artery and inferior hemi-retinal vein occlusion in the right eye. Systemic work-up was negative. After controlling the intraocular

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2017 Saudi Journal of Ophthalmology

18. Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome (PubMed)

Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome 27903813 2018 08 22 2018 11 13 1526-632X 88 2 2017 01 10 Neurology Neurology Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. 209-211 10.1212/WNL.0000000000003492 Sethi Moksh M From The Florey Institute of Neuroscience and Mental Health (M.S., M.A.K., J.S.A., G.D.J.), The University of Melbourne, Parkville; and Austin Hospital (M.S., L.J.D., J.S.A., G.D.J (...) Neurology 0401060 0028-3878 AIM IM Adolescent Humans Male Migraine Disorders diagnostic imaging physiopathology Neurovascular Coupling physiology Positron-Emission Tomography Status Epilepticus diagnostic imaging physiopathology Sturge-Weber Syndrome diagnostic imaging physiopathology Tomography, Emission-Computed, Single-Photon 2016 07 18 2016 09 22 2016 12 3 6 0 2018 8 23 6 0 2016 12 2 6 0 ppublish 27903813 WNL.0000000000003492 10.1212/WNL.0000000000003492 PMC5224717 N Engl J Med. 2013 May 23;368(21

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2017 Neurology

19. Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome (PubMed)

Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome 27864521 2018 08 16 2018 11 13 1526-632X 88 1 2017 01 03 Neurology Neurology Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. 103-105 10.1212/WNL.0000000000003455 Pilli Vinod K VK From Wayne State University (V.K.P., H.T.C., C.J.); Children's Hospital of Michigan (V.K.P., H.T.C., C.J.), Detroit; and Nemours/Alfred I. DuPont Hospital for Children (H.T.C (...) imaging pathology Positron-Emission Tomography Sturge-Weber Syndrome complications diagnostic imaging 2016 04 13 2016 09 22 2016 11 20 6 0 2018 8 17 6 0 2016 11 20 6 0 ppublish 27864521 WNL.0000000000003455 10.1212/WNL.0000000000003455 PMC5200860 Epilepsia. 2011 Jul;52(7):1265-72 21480889 Ann Neurol. 2009 Sep;66(3):271-83 19798638 Neuroradiology. 1996 Oct;38(7):621-8 8912316 AJNR Am J Neuroradiol. 2007 May;28(5):900-6 17494666 Curr Treat Options Neurol. 2008 Jan;10(1):47-54 18325299 J Clin Neurosci

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2017 Neurology

20. Sturge-Weber Syndrome (PubMed)

Sturge-Weber Syndrome 28384923 2018 11 13 2249-782X 11 2 2017 Feb Journal of clinical and diagnostic research : JCDR J Clin Diagn Res Sturge-Weber Syndrome. OJ05-OJ06 10.7860/JCDR/2017/22731.9378 Chhabria Bharath A BA Junior Resident, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research , Chandigarh, India . Subramanium Prasanth Bala PB Junior Resident, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research , Chandigarh

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2017 Journal of clinical and diagnostic research : JCDR

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