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Elevated cholesterol and bile acid synthesis in an adult patient with homozygous familial hypercholesterolemia. Reduction by a high glucose diet.
Stacpoole PW, Grundy SM, Swift LL, Greene HL, Slonim AE, Burr IM
(1981) J Clin Invest 68: 1166-71
MeSH Terms: Adult, Bile Acids and Salts, Cholesterol, Dietary Carbohydrates, Female, Glucose, Homozygote, Humans, Hyperlipoproteinemia Type II, Lipoproteins, Male, Pedigree, Triglycerides
Show Abstract · Added May 27, 2014
Elevated levels of cholesterol synthesis are reported for several young children with homozygous familial hypercholesterolemia (HFH) and are considered to contribute directly to their hypercholesterolemia. In contrast, increased cholesterol production has not previously been found in adult patients with HFH. Using the fecal steroid balance technique, we studied rates of cholesterol and bile acid synthesis in a 24-yr-old man who had severe hypercholesterolemia typical of HFH and who lacked skin fibroblast low density lipoprotein (LDL) receptor activity. On an average diet (45% carbohydrate, 40% fat, 15% protein) mean +/- SEM cholesterol (24.8 +/- 1.4 mg/kg per d) and bile acid (11.1 +/- 1.6 mg/kg per d) excretion were approximately threefold higher than normal. When an isocaloric high carbohydrate, low fat diet (90.5% glucose oligosaccharides, 1.3% safflower oil, 8.2% crystalline amino acids was substituted, mean cholesterol (13.0 +/- 0.5 mg/kg per d) and bile acid (8.6 +/- 0.4 mg/kg per d) fell markedly. The decline in fecal steroid excretion was accompanied by modest reductions in plasma total and LDL cholesterol concentrations and by a softening of cutaneous xanthomata. Although the patient phenotypically and biochemically resembled the HFH state, his family pedigree was not noteable for hypercholesterolemia. While the patient's father had premature cardiovascular disease, his mother had no evidence of heart disease, had normal plasma total and LDL cholesterol levels, and had normal fibroblast LDL receptor activity. Likewise, the plasma cholesterol levels of three other members of the patient's family were normal. Despite the unusual genotypic background of this individual, however, the fecal balance data shows that elevated cholesterol and bile acid synthesis may occur in adult, as well as juvenile, patients with HFH and may be responsive to dietary control.
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13 MeSH Terms
Morphologic abnormalities of erythrocytes from patients with homozygous familial hypercholesterolemia.
Atkinson JB, Stacpoole PW, Swift LL
(1982) Biochim Biophys Acta 712: 211-6
MeSH Terms: Cholesterol, Erythrocyte Membrane, Erythrocytes, Homozygote, Humans, Hyperlipoproteinemia Type II, Lipoproteins, Membrane Lipids, Microscopy, Electron, Scanning, Phospholipids
Show Abstract · Added May 27, 2014
Erythrocytes from patients with various disorders of lipoprotein metabolism have been found to have abnormal morphology. We report morphologic abnormalities of erythrocytes from two patients with homozygous familial hypercholesterolemia (HFH), in which knisocytes, stomatocytes and crenated cells were observed. The membrane lipid and phospholipid fatty acid composition of HFH erythrocytes was not significantly different from controls. HFH erythrocytes incubated in HFH patient plasma and a lipoprotein-rich fraction of HFH plasma appeared morphologically similar to erythrocytes from HFH patients. These studies support the concept that serum lipids exert an important role in the regulation of erythrocyte morphology in the normal state, as well as in patients with disorders of lipoprotein metabolism.
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10 MeSH Terms
Segregation patterns of polymorphic restriction sites of the gene encoding the alpha subunit of human chorionic gonadotropin in trophoblastic disease.
Hoshina M, Boothby MR, Hussa RD, Pattillo RA, Camel HM, Boime I
(1984) Proc Natl Acad Sci U S A 81: 2504-7
MeSH Terms: Choriocarcinoma, Chorionic Gonadotropin, Cloning, Molecular, DNA, DNA Restriction Enzymes, Female, Genes, Glycoprotein Hormones, alpha Subunit, Homozygote, Humans, Hydatidiform Mole, Lymphocytes, Male, Peptide Fragments, Placenta, Polymorphism, Genetic, Pregnancy, Risk, Trophoblastic Neoplasms, Uterine Neoplasms
Show Abstract · Added December 10, 2013
The gene encoding the alpha subunit of human chorionic gonadotropin contains at least two polymorphic sites in its 3' flanking region detected by restriction enzymes HindIII and EcoRI. We used these polymorphic sites as markers of tissue genotype in normal placenta, hydatidiform mole, choriocarcinoma, and peripheral leukocytes. As expected, inheritance patterns of most hydatidiform moles showed only a paternal genetic contribution. However, one uncommon DNA polymorphism pattern, homozygosity for the absence of the EcoRI site and the presence of the HindIII site, predominated in choriocarcinoma. Thus, our results suggest that moles which have this uncommon polymorphism pattern appear particularly likely to develop into choriocarcinoma.
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20 MeSH Terms
Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS
(1989) Hum Genet 82: 285-6
MeSH Terms: Adrenal Hyperplasia, Congenital, Aldehyde-Lyases, Canada, Cytochrome P-450 Enzyme System, Ethnic Groups, Exons, Homozygote, Humans, Mutation, Steroid 17-alpha-Hydroxylase, Steroid Hydroxylases
Show Abstract · Added February 12, 2015
During the course of studies to characterize mutations of the CYP17 gene that cause the 17 alpha-hydroxylase-deficient form of congenital adrenal hyperplasia we have discovered two ostensibly unrelated Mennonite families in which affected individuals are homozygous for the same mutation. The defect is a four-base duplication in exon 8 of the CYP17 gene, which alters the reading frame encoding the C-terminal 26 amino acids of cytochrome P450(17 alpha).
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11 MeSH Terms
Extracorporeal treatment of familial hypercholesterolemia with monoclonal antibodies to low-density lipoprotein.
Wingard RL, Lee WO, Hakim RM
(1991) Am J Kidney Dis 18: 559-65
MeSH Terms: Adult, Antibodies, Monoclonal, Apolipoproteins B, Homozygote, Humans, Hyperlipoproteinemia Type II, Immunosorbent Techniques, Lipoproteins, LDL, Male, Perfusion, Plasma, Plasma Exchange
Show Abstract · Added May 20, 2014
Plasma exchange (PE) is considered the most effective nonsurgical treatment modality for the reduction of low-density lipoprotein (LDL) in patients with familial hypercholesterolemia (FH). However, the concomitant reduction of high-density lipoprotein (HDL) and the necessity and cost of using blood products are major drawbacks of PE. We studied the effects of selective LDL reduction using monoclonal anti-LDL antibodies in an investigational immunoadsorption (IA) system. Results were compared with the effects of PE. During the study period, two homozygous FH patients with baseline cholesterol levels greater than 10.34 mmol/L (400 mg/dL) were treated sequentially for a combined total of 37 IA treatments and the results were compared with a total of 19 sequential PE treatments. The IA system consisted of on-line plasma processing over two columns of monoclonal anti-LDL antibodies in alternating cycles of column adsorption and regeneration. No replacement solution was needed. PE was performed with a centrifugal plasma separator using 5% albumin as replacement solution. Results showed that the reduction of lipids with IA was 43% +/- 0.9% for cholesterol, 51% +/- 1.0% for LDL, and 19% +/- 1.3% for HDL, resulting in a reduction in the LDL to HDL ratio of 41% +/- 1.7%. Compared with IA, percent reduction by PE was significantly greater (P less than 0.001) for all lipids, but was nonselective (cholesterol, 74% +/- 1.0%; LDL, 77% +/- 1.2%; HDL, 73% +/- 2.7%), and therefore the reduction of the LDL to HDL ratio was only 6% +/- 3.6%, which was significantly less than for IA (P less than 0.001). Pretreatment HDL concentration appeared to increase with repetitive IA treatment, but decreased back to prestudy levels with repetitive PE.(ABSTRACT TRUNCATED AT 250 WORDS)
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12 MeSH Terms
Effect of oxygen concentration on trasverse water proton relaxation times in erythrocytes homozygous and heterozygous for hemoglonin S.
Cottam GL, Waterman MR
(1976) Arch Biochem Biophys 177: 293-8
MeSH Terms: Electron Spin Resonance Spectroscopy, Hemoglobin, Sickle, Hemoglobins, Heterozygote, Homozygote, Humans, Hydrogen Bonding, Kinetics, Mathematics, Oxygen, Oxyhemoglobins, Protein Binding, Protein Conformation, Water
Added February 12, 2015
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14 MeSH Terms