Abstract

Osler-Rendu-Weber disease, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant condition causing recurrent epistaxis, telangiectases and visceral vascular anomalies. It is caused by a mutation in either endoglin (located on human chromosome 9), activin receptor-like kinase 1 (on chromosome 12) or an as yet unidentified third gene. Common sources of serious morbidity in HHT are pulmonary vascular arteriovenous malformation (PAVM), cerebral arteriovenous malformation (CAVM) and hepatic arteriovenous malformation (HAVM). This study seeks to investigate six issues: 1) the prevalence of PAVMs in a population with HHT due to endoglin mutations; 2) the relative sensitivity and specificity of pulse oximetry, helical CT and contrast echocardiography as screening modalities for PAVMs; 3) the incidence of CAVMs in a population with HHT due to endoglin mutations; 4) the incidence of HAVM in a population with HHT due to endoglin mutations; 5) the existence of modifier genes that determine which individuals with endoglin mutations develop PAVMs, CAVMs, or HAVMs; and 6) the prevalence of abnormalities of the cardiac valves in those with endoglin mutations. We are continuing to enroll subjects in this protocol. Formal data analysis awaits enrollment of more individuals.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR000109-33
Application #
6247054
Study Section
Project Start
1997-01-23
Project End
1997-11-30
Budget Start
1996-10-01
Budget End
1997-09-30
Support Year
33
Fiscal Year
1997
Total Cost
Indirect Cost

  Institution

Name
University of Vermont & St Agric College
Department
Type
DUNS #
066811191
City
Burlington
State
VT
Country
United States
Zip Code
05405

  Publications

Scagnelli, Connor N; Howard, Diantha B; Bromberg, Mark B et al. (2018) Hydration measured by doubly labeled water in ALS and its effects on survival. Amyotroph Lateral Scler Frontotemporal Degener 19:220-231
Horne, Hisani N; Sherman, Mark E; Pfeiffer, Ruth M et al. (2016) Circulating insulin-like growth factor-I, insulin-like growth factor binding protein-3 and terminal duct lobular unit involution of the breast: a cross-sectional study of women with benign breast disease. Breast Cancer Res 18:24
Kien, C Lawrence; Matthews, Dwight E; Poynter, Matthew E et al. (2015) Increased palmitate intake: higher acylcarnitine concentrations without impaired progression of ?-oxidation. J Lipid Res 56:1795-807
Gierach, Gretchen L; Patel, Deesha A; Falk, Roni T et al. (2015) Relationship of serum estrogens and metabolites with area and volume mammographic densities. Horm Cancer 6:107-19
Albert, Kimberly; Pruessner, Jens; Newhouse, Paul (2015) Estradiol levels modulate brain activity and negative responses to psychosocial stress across the menstrual cycle. Psychoneuroendocrinology 59:14-24
Bodelon, Clara; Heaphy, Christopher M; Meeker, Alan K et al. (2015) Leukocyte telomere length and its association with mammographic density and proliferative diagnosis among women undergoing diagnostic image-guided breast biopsy. BMC Cancer 15:823
Morris, Erin A; Hale, Sarah A; Badger, Gary J et al. (2015) Pregnancy induces persistent changes in vascular compliance in primiparous women. Am J Obstet Gynecol 212:633.e1-6
Miller, Mark S; Bedrin, Nicholas G; Ades, Philip A et al. (2015) Molecular determinants of force production in human skeletal muscle fibers: effects of myosin isoform expression and cross-sectional area. Am J Physiol Cell Physiol 308:C473-84
Kien, C Lawrence; Bunn, Janice Y; Fukagawa, Naomi K et al. (2015) Lipidomic evidence that lowering the typical dietary palmitate to oleate ratio in humans decreases the leukocyte production of proinflammatory cytokines and muscle expression of redox-sensitive genes. J Nutr Biochem 26:1599-606
Fox, James R; Gray, Weili; Koptiuch, Cathryn et al. (2014) Anisotropic tissue motion induced by acupuncture needling along intermuscular connective tissue planes. J Altern Complement Med 20:290-4

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