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Sturge Weber

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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
#1
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
#2
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
#3
B M Stoffelns, P Laspas
No abstract text is available yet for this article.
February 13, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28146369/evisceration-in-patients-with-sturge-weber-syndrome
#4
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
#5
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...
January 23, 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
#6
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
#7
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
https://www.readbyqxmd.com/read/28064423/pathophysiology-diagnosis-and-management-of-glaucoma-associated-with-sturge-weber-syndrome
#8
REVIEW
Usman Javaid, Muhammad Hassaan Ali, Samreen Jamal, Nadeem Hafeez Butt
PURPOSE: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment involving conjunctiva and eyelids, whereas posterior segment of the eye may also be affected by diffuse choroidal hemorrhages. This article was written with the objectives to determine the pathophysiology, diagnosis, and treatment of glaucoma associated with this rare and challenging disorder...
January 7, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/27993821/sturge-weber-syndrome-type-3-manifesting-as-status-migrainosus
#9
Philip Richard Jordan, Mehtab Iqbal, Manish Prasad
Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome characterised by facial naevus and leptomeningeal angiomatosis resulting in neurological and ophthalmological complications. In its rare variant, SWS type 3, the clinical hallmark of facial naevus is absent which poses a diagnostic challenge. Here, we present an interesting case of SWS type 3 where a child presented twice with prolonged severe unilateral headache mimicking migraine status followed on both occasions with focal seizures. He developed a dense right-sided homonymous hemianopia, and an urgent brain MRI scan was performed which pointed towards the diagnosis of SWS type 3...
December 19, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27928421/asymmetrical-intraocular-pressures-and-asymmetrical-papilloedema-in-pseudotumor-cerebri-syndrome
#10
Mitchell Lawlor, Michael G Zhang, Jonathan Virgo, Gordon T Plant
This report is of two cases of asymmetrical papilloedema in patients with asymmetrical intraocular pressures (IOPs). The first patient presented with headaches, transient visual obscurations (TVOs), and elevated IOPs, and was found to have increased intracranial pressure caused by a torcula meningioma. He developed papilloedema after his IOPs were pharmacologically lowered; the papilloedema resolved after the IOP became elevated again after stopping his glaucoma drops, and then again returned as the IOP reduced when the drops were restarted...
December 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#11
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
February 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27909387/predicting-and-preventing-epilepsy-in-sturge-weber-syndrome
#12
COMMENT
Csaba Juhász
Investigators from the University of Montreal studied potential predictors of epilepsy in young patients with Sturge-Weber syndrome (SWS).
November 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27903813/abnormal-neurovascular-coupling-during-status-epilepticus-migrainosus-in-sturge-weber-syndrome
#13
Moksh Sethi, Magdalena A Kowalczyk, Linda J Dalic, John S Archer, Graeme D Jackson
No abstract text is available yet for this article.
January 10, 2017: Neurology
https://www.readbyqxmd.com/read/27887956/-childhood-s-ophthalmologic-involvement-in-sturge-weber-krabbe-syndrome
#14
M Wirth, M-C Bazard, E Schmitt, M Rouabah, J-M Hascoët
Ophthalmologic involvement in Sturge-Weber-Krabbe syndrome (SWKS) is present in 30-70% of cases and needs to be reviewed because of its impact on visual development. We report a case of a newborn for whom SSWK with ophthalmologic involvement was suspected. She had a right segmental plane angioma associated with right congenital glaucoma and suspected right pial angioma. Ophthalmic involvement in SWKS may be nonocular: iatrogenic by treatment-associated complications and central by leptomeningeal damage. Ophthalmologic involvement can occur throughout childhood and is mainly represented by glaucoma and diffuse choroidal hemangioma and then conjunctival hemangioma, retinal detachment, and iris heterochromia...
January 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27873347/infantile-hemangioma-with-minimal-or-arrested-growth-further-observations-on-clinical-and-histopathologic-findings-of-this-unique-but-underrecognized-entity
#15
Ellen Hui Ma, Susan J Robertson, Chung W Chow, Philip S Bekhor
BACKGROUND: Infantile hemangioma (IH) with minimal or arrested growth (IH-MAG) is becoming increasingly recognized in the literature. It is important to be aware of their existence, because the correct diagnosis is essential for prognostication and treatment and, in the case of facial segmental lesions, the direction of further investigations if PHACE (posterior fossa abnormalities and other structural brain abnormalities; hemangioma(s) of the cervical facial region; arterial cerebrovascular anomalies; cardiac defects, aortic coarctation, and other aortic abnormalities; eye anomalies) syndrome or Sturge-Weber syndrome is suspected...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27864521/enlargement-of-deep-medullary-veins-during-the-early-clinical-course-of-sturge-weber-syndrome
#16
Vinod K Pilli, Harry T Chugani, Csaba Juhász
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27795889/sturge-weber-syndrome-with-intracerebral-hemorrhage-a-case-report
#17
Masashi Chonan, Yasuhiro Suzuki, Shinya Haryu, Shoji Mashiyama, Teiji Tominaga
INTRODUCTION: Sturge-Weber syndrome (SWS) is a rare congenital disease that affects the brain, skin, and eyes, and is a sporadically occurring neurocutaneous syndrome that affects intracerebral veins, which is associated with venous thrombosis. However, intracranial hemorrhage in patients with SWS is rare. We herein report a rare case of SWS with intracerebral hemorrhage derived from sinus thrombosis. CASE DESCRIPTION: A 62-year-old man suddenly fell into a coma and was admitted to our hospital...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27769582/-orbito-palpebral-vascular-pathology
#18
REVIEW
F Heran Dreyfus, O Galatoire, P Koskas, F Lafitte, E Nau, O Bergès
Orbito-palpebral vascular pathology represents 10% of all the diseases of this area. The lesion may be discovered during a brain CT scan or MRI, or because it causes clinical symptoms such as orbital mass, visual or oculomotor alteration, pain, proptosis, or acute bleeding due to a complication of the lesion (hemorrhage, thrombosis). We present these lesions using an anatomical, clinical, imaging and therapeutic approach. We distinguish four different entities. Vascular tumors have common imaging characteristics (hypersignal on T2 sequence, contrast enhancement, abnormal vascularization well depicted with ultrasound and Doppler, and possible bleeding)...
November 2016: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/27663490/a-cerebral-infarction-in-a-girl-with-sturge-weber-syndrome
#19
Michele Arigliani, Giulia Bravar, Giovanni Crichiutti, Serena D'Agostini, Paola Cogo
No abstract text is available yet for this article.
November 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27652010/vertical-parasagittal-hemispherotomy-for-sturge-weber-syndrome-in-early-infancy-case-report-and-literature-review
#20
Xiangyu Liu, Taisuke Otsuki, Akio Takahashi, Takanobu Kaido
INTRODUCTION: The authors here present a rare case of a 3-month-old infant with unilateral Sturge-Weber syndrome (SWS) who had excellent seizure control and no aggravation of previous existed neurological deficits after vertical parasagittal hemispherotomy (VPH). To our knowledge, this patient with SWS was the youngest one who received VPH. CASE DESCRIPTION: The use of VPH results in a successful treatment of intractable epilepsy in a patient with seizure onset in early infancy...
2016: SpringerPlus
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