A5016647349- Vascular Malformations Diagnosis and Treatment
- Vascular Anomalies and Treatments
- Intracranial Aneurysms: Treatment and Complications
- Intracerebral and Subarachnoid Hemorrhage Research
- Tracheal and airway disorders
- Vascular Malformations and Hemangiomas
- Ocular Oncology and Treatments
- Cancer and Skin Lesions
- Sharing Economy and Platforms
- Nonmelanoma Skin Cancer Studies
- Neuroscience and Neuropharmacology Research
- Cutaneous Melanoma Detection and Management
- Cardiac Structural Anomalies and Repair
- Cardiomyopathy and Myosin Studies
- Ion channel regulation and function
- Ocular Infections and Treatments
- Pain Mechanisms and Treatments
- Autophagy in Disease and Therapy
- Cardiovascular Effects of Exercise
- Congenital Heart Disease Studies
- Mast cells and histamine
- Cancer Genomics and Diagnostics
- Genetic and rare skin diseases.
- Cutaneous lymphoproliferative disorders research
- Vascular Tumors and Angiosarcomas
University of Utah
2015-2024
University of North Florida
2024
Leeds Teaching Hospitals NHS Trust
2024
RTI International
2024
Mayo Clinic in Arizona
2024
Johns Hopkins University
2018-2024
Massachusetts General Hospital
2024
Sullivan Nicolaides Pathology
2009-2023
University of Utah Hospital
2023
George E. Wahlen Department of VA Medical Center
2015-2021
Description: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease with estimated prevalence of 1 in 5000 that characterized by the presence vascular malformations (VMs). These result chronic bleeding, acute hemorrhage, and complications from shunting through VMs. The goal Second International HHT Guidelines process was to develop evidence-based consensus guidelines for management prevention HHT-related symptoms complications. Methods: were developed using AGREE II...
// Peter Johansson 1 , Lauren G. Aoude Karin Wadt 2 William J. Glasson 3 Sunil K. Warrier Alex W. Hewitt 4, 5 Jens Folke Kiilgaard 6 Steffen Heegaard 6, 7 Tim Isaacs Maria Franchina Christian Ingvar 8 Tersia Vermeulen 9 Kevin Whitehead 10 Christopher Schmidt Jane M. Palmer Judith Symmons Anne-Marie Gerdes Göran Jönsson Nicholas Hayward QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark The Terrace Eye...
Hemorrhagic stroke is a significant cause of morbidity and mortality in children, frequently associated with intracranial vascular malformations. One prevalent form these malformations, cerebral cavernous malformation, characterized by thin-walled cavities that hemorrhage has been linked to loss-of-function mutations CCM1. The neural epithelial expression CCM1 adulthood suggests malformations may be the result primary defects. In this study, we generated mice lacking Ccm1 demonstrate...
To evaluate the clinical features, treatment, and outcomes of a cohort patients with ocular adnexal lymphoproliferative disease classified according to World Health Organization modification Revised European-American Classification Lymphoid neoplasms perform robust statistical analysis these data.Sixty-nine cases disease, seen in tertiary referral center from 1992 2003, were included study. Lesions by using classification. Outcome variables disease-specific survival, relapse-free local...
Background— Cerebral cavernous malformation (CCM) is a hemorrhagic stroke disease affecting up to 0.5% of North Americans that has no approved nonsurgical treatment. A subset patients have hereditary form the due primarily loss-of-function mutations in KRIT1, CCM2 , or PDCD10. We sought identify known drugs could be repurposed treat CCM. Methods and Results— developed an unbiased screening platform based on both cellular animal models loss function . Our discovery strategy consisted 4 steps:...
Cerebral cavernous malformations (CCMs) are a common type of vascular malformation in the brain that major cause hemorrhagic stroke. This condition has been independently linked to 3 separate genes: Krev1 interaction trapped (KRIT1), 2 (CCM2), and Programmed cell death 10 (PDCD10). Despite commonality disease pathology caused by mutations these genes, we found loss Pdcd10 results significantly different developmental, biological, signaling phenotypes from those seen absence Ccm2 Krit1....
<h3>Importance</h3> Epistaxis is a major factor negatively affecting quality of life in patients with hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease). Optimal treatment for HHT-related epistaxis uncertain. <h3>Objective</h3> To determine whether topical therapy any 3 drugs differing mechanisms action effective reducing epistaxis. <h3>Design, Setting, and Participants</h3> The North American Study HHT was double-blind, placebo-controlled randomized...
Hereditary hemorrhagic telangiectasia (HHT) is characterized by extensive telangiectasias and arteriovenous malformations. The primary clinical manifestation epistaxis that results in iron-deficiency anemia reduced health-related quality of life.
To determine the rate of recurrence basal cell carcinomas (BCCs) after modified en face frozen section-controlled excision in a high-risk population Queensland, Australia.Retrospective, noncomparative interventional case series. A review was conducted all patients with periocular BCCs examined between 1992 to 2001 tertiary oculoplastics practice. Basal were surgically excised, and rates under section control, Mohs micrographic surgery, no control documented. Epidemiologic aspects BCC...
There is emerging evidence that the canonical neural guidance factor netrin can also direct growth of blood vessels. We deleted gene encoding UNC5B, a receptor for family molecules, specifically within embryonic endothelium mice. The result profound structural and functional deficiency in arterioles placental labyrinth, which leads first to flow reversal umbilical artery ultimately death. As this only detectable site vascular abnormality mutant embryos, because phenotype cannot be rescued by...
Mutant protein aggregation (PA) cardiomyopathy (MPAC) is characterized by reductive stress (RS), PA (of chaperones and cytoskeletal components), ventricular dysfunction in transgenic mice expressing human mutant CryAB (hmCryAB). Sustained activation of nuclear erythroid-2 like factor-2 (Nrf2) causes RS, which contributes to proteotoxic cardiac disease. The goals this pre-clinical study were (i) investigate whether disrupting Nrf2-antioxidant signalling prevents RS rescues redox homeostasis...
Mechanistic target of rapamycin (Mtor) is required for embryonic inner cell mass proliferation during early development. However, Mtor expression levels are very low in the mouse heart embryogenesis. To determine if plays a role cardiac development, cardiomyocyte specific deletion was achieved using α myosin heavy chain (α-MHC) driven Cre recombinase. Initial mosaic between day (E) 10.5 and E11.5 eliminated subset cardiomyocytes with high activity by apoptosis reduced overall proliferative...
Abstract BACKGROUND More than a million Americans harbor cerebral cavernous angioma (CA), and those who suffer prior symptomatic hemorrhage have an exceptionally high rebleeding risk. Preclinical studies show that atorvastatin blunts CA lesion development through inhibiting RhoA kinase (ROCK), suggesting it may confer therapeutic benefit. OBJECTIVE To evaluate whether produces difference compared to placebo in lesional iron deposition as assessed by quantitative susceptibility mapping (QSM)...
Cerebral cavernous malformation (CCM) is a genetic, cerebrovascular disease. Familial CCM caused by genetic mutations in KRIT1, CCM2, or PDCD10 Disease onset earlier and more severe individuals with mutations. Recent studies have shown that lesions arise from excess mitogen-activated protein kinase 3 (MEKK3) signaling downstream of Toll-like receptor 4 (TLR4) stimulation lipopolysaccharide derived the gut microbiome. These findings suggest gut-brain disease axis but fail to define it explain...
The clinical course of cerebral cavernous malformations is highly unpredictable, with few cross-sectional studies correlating proinflammatory genotypes and plasma biomarkers prior disease severity.We hypothesize that a panel 24 candidate biomarkers, reported role in the physiopathology malformations, may predict subsequent clinically relevant activity.Plasma were assessed nonfasting peripheral venous blood collected from consecutive malformation subjects followed for 1 year after initial...