Abstract

Patients with the Smith-Lemli-Opitz syndrome have a cholesterol deficiency because there is a block in the synthesis of cholesterol. Clinically, they have microcephaly, mental retardation and hypotonicity, along with very low plasma cholesterol levels and high plasma concentrations of 7- dehydrocholesterol This study will attempt to identify a biomarker for the carrier state in parents of Smith-Lemli-Opitz patients by stimulating cholesterol biosynthesis by feeding a cholesterol-free diet and administering bile acid binding resins.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000334-32
Application #
6278156
Study Section
Project Start
1997-12-01
Project End
1998-11-30
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
32
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Oregon Health and Science University
Department
Type
DUNS #
009584210
City
Portland
State
OR
Country
United States
Zip Code
97239

  Publications

Brenowitz, Willa D; Keene, C Dirk; Hawes, Stephen E et al. (2017) Alzheimer's disease neuropathologic change, Lewy body disease, and vascular brain injury in clinic- and community-based samples. Neurobiol Aging 53:83-92
Brenowitz, Willa D; Hubbard, Rebecca A; Keene, C Dirk et al. (2017) Mixed neuropathologies and estimated rates of clinical progression in a large autopsy sample. Alzheimers Dement 13:654-662
Bergstrom, Colin P; Ruffell, Brian; Ho, Christine M T et al. (2017) Docetaxel and mitoxantrone before radical prostatectomy in men with high-risk prostate cancer: 10-year follow-up and immune correlates. Anticancer Drugs 28:120-126
Narayanan, Kumar; Uy-Evanado, Audrey; Teodorescu, Carmen et al. (2016) Mitral valve prolapse and sudden cardiac arrest in the community. Heart Rhythm 13:498-503
Abner, Erin L; Nelson, Peter T; Kryscio, Richard J et al. (2016) Diabetes is associated with cerebrovascular but not Alzheimer's disease neuropathology. Alzheimers Dement 12:882-9
Sylwester, Andrew; Nambiar, Kate Z; Caserta, Stefano et al. (2016) A new perspective of the structural complexity of HCMV-specific T-cell responses. Mech Ageing Dev 158:14-22
Elliot, Diane; Garg, Bharti; Kuehl, Kerry et al. (2015) Why Are Women Law Enforcement Officers More Burned-Out and What Might Help Them? Occup Med Health Aff 3:
Shinto, Lynne; Quinn, Joseph; Montine, Thomas et al. (2014) A randomized placebo-controlled pilot trial of omega-3 fatty acids and alpha lipoic acid in Alzheimer's disease. J Alzheimers Dis 38:111-20
Samuels, Mary H (2014) Psychiatric and cognitive manifestations of hypothyroidism. Curr Opin Endocrinol Diabetes Obes 21:377-83
Redig, Jennifer K; Fouad, Gameil T; Babcock, Darcie et al. (2014) Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS Genet 1:1-19

Showing the most recent 10 out of 336 publications