Abstract

Participants in this research study include children diagnosed with Smith-Lemli-Opitz syndrome and children without this disorder who will serve as control subjects and provide normative data. The Smith-Lemli-Opitz Syndrome results in a very low blood cholesterol level and a high blood level of 7-dehydrocholesterol (another form of cholesterol). The purpose of the study is to feed participants a diet that contains no cholesterol and a diet that is high in cholesterol and determine the effects on the child's blood cholesterol level, the blood level of 7-dehydrocholesterol and the absorption and metabolism of cholesterol. The long term goal is to determine if the dietary cholesterol reduces any of the usual symptoms of the Smith-Lemli-Opitz Syndrome. In addition, in patients over 2 years of age, genetic studies (DNA) will be done to help identify the gene for Smith-Lemli-Opitz syndrome and to study mutations (changes) in the gene.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR000334-34
Application #
6306436
Study Section
Project Start
1999-12-01
Project End
2000-11-30
Budget Start
Budget End
Support Year
34
Fiscal Year
2000
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
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
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
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:
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
Lee, David S H; Markwardt, Sheila; Goeres, Leah et al. (2014) Statins and physical activity in older men: the osteoporotic fractures in men study. JAMA Intern Med 174:1263-70

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