This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Sturge-Weber syndrome (SWS) is a congenital disorder presenting with leptomeningeal angioma, facial port-wine stain, and vascular abnormalities of the eye. Other features include increased incidence of academic, social, and mood issues, cognitive and/or developmental delays, and growth hormone deficiency. Prior studies suggest progression of the vascular malformations in the brain, skin, and eye. Although outcomes vary widely among patients, clinical experience and research studies evidence worsening of neurologic status and vision. We propose to address the pathophysiology of Sturge-Weber syndrome with several pilot studies: ultrasound and Doppler studies of the brain and eye, funduscopy, screening for hypercoagulability risk factors, and testing of endocrine function in subjects with Sturge-Weber syndrome. We plan to correlate the results of these tests with clinical exams and neuropsychological testing. We expect that this pilot study will address essential questions regarding the pathogenesis of neurologic deterioration in SWS, the incidence of hypercoagulability and endocrine abnormalities in this disorder, and the usefulness of these minimally-invasive techniques as markers for disease severity.
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| Altman, Matthew C; Whalen, Elizabeth; Togias, Alkis et al. (2018) Allergen-induced activation of natural killer cells represents an early-life immune response in the development of allergic asthma. J Allergy Clin Immunol 142:1856-1866 |
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| Grover, Surbhi; Desir, Fidel; Jing, Yuezhou et al. (2018) Reduced Cancer Survival Among Adults With HIV and AIDS-Defining Illnesses Despite No Difference in Cancer Stage at Diagnosis. J Acquir Immune Defic Syndr 79:421-429 |
| Grams, Morgan E; Sang, Yingying; Ballew, Shoshana H et al. (2018) Predicting timing of clinical outcomes in patients with chronic kidney disease and severely decreased glomerular filtration rate. Kidney Int 93:1442-1451 |
| Yanik, Elizabeth L; Hernández-Ramírez, Raúl U; Qin, Li et al. (2018) Brief Report: Cutaneous Melanoma Risk Among People With HIV in the United States and Canada. J Acquir Immune Defic Syndr 78:499-504 |
| Aboud, Katherine S; Barquero, Laura A; Cutting, Laurie E (2018) Prefrontal mediation of the reading network predicts intervention response in dyslexia. Cortex 101:96-106 |
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