Application of new staining techniques to the study of human chromosomes.
Explore the source record for details and available documents.
SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The power of structured exploratory data analysis (SEDA) to discriminate among major genic, polygenic, and nongenetic determination of phenotypes was investigated using computer simulation. Three classes of SEDA indices (the major gene index, the offspring between parents function, and the midparent-child correlation coefficient) were evaluated. These three statistics, in combination, were reasonably sensitive in detecting the presence of a major locus and in discriminating between phenotypes with genetic effects and those with no genetic component. However, they were unable to discriminate between major genic and polygenically determined phenotypic models.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Results from family studies suggest several possible single gene traits may be related to essential hypertension in humans. Results of segregation analysis are reviewed for six possibly related traits (high sodium-lithium countertransport, low urinary kallikrein excretion, high fasting plasma insulin level, a fat pattern index, dense LDL subfractions, and body mass index). Eight genetic loci (on chromosomes 1, 6, 8, 17 and 19) are possibly related to essential hypertension in humans and are also reviewed. Two of them (GRA and AGT) are well-established. Glucocorticoid remediable aldosteronism (GRA) is attributable to a well-defined mutation on chromosome 8q21 and leads to the production of high levels of abnormal adrenal steroid hormones with subsequent aldosteronism, early severe hypertension, and strokes. This form of hypertension is unresponsive to ordinary medications but very responsive to glucocorticoid hormone administration. The angiotensinogen (AGT) locus on chromosome 1q4 has been related to hypertension in sibship linkage studies, association studies, and studies of angiotensinogen levels by genotype in three different populations (Utah, France, Japan). This locus seems to be associated with more severe essential hypertension and also with preeclampsia. Genetic heterogeneity, imprecision in measuring specific phenotypes, and variability in sampling methods in populations studied may all contribute to weaknesses and inconsistencies between reported studies. However, growing evidence for several single gene traits promoting susceptibility to hypertension offers opportunities for identifying genetically profiled subsets of patients in whom specific environmental interventions or specific types of medications will achieve more focused prevention and treatment of hypertension and its complications.
Karyotypes of six females and four males of the East European vole (Microtus subarvalis) were prepared from spleen cell cultures. G-banding of early metaphase chromosomes has allowed us to distinguish 488 bands in the haploid set of chromosomes of M. subarvalis. Based on the detailed study of chromosomes at various levels of condensation, an idiogram has been built up for the chromosomes of the East European vole.
In five healthy human subjects, near-infrared spectroscopy (NIRS) and positron emission tomography (PET) examinations were performed simultaneously. Changes in [oxy-Hb], [deoxy-Hb] and [total-Hb] as measured by NIRS over the left forehead were compared to measurements of cerebral blood flow by PET during rest and during performance of a calculation task and a Stroop task. When a penetration depth of near-infrared light 0.9 cm into the brain cortex was assumed, a statistically significant correlation between changes in CBF and changes in [total-Hb] was found. These data confirm the validity of NIRS measurements in human adults.
Resuscitation (RES) after hemorrhage (HEM) results in persistent arteriolar constriction and hypoperfusion of the small intestine (SI) despite restoration of mean arterial pressure (MAP) and cardiac output (CO) to normal values. We postulated that increased adrenergic activity contributes to this vasoconstriction and impairment of flow. A loop of SI from decerebrate rats was exteriorized and suffused with Krebs' solution (37 degrees C, pH 7.4). In initial experiments, the effectiveness of alpha-adrenergic receptor antagonism by phentolamine (PHEN) was assessed. Subsequent groups received either topical PHEN (10(-6) M, n = 6) or saline (n = 6) in the suffusion and were then bled to 50% baseline (BL) MAP for 60 min and resuscitated to BL with shed blood/lactated Ringer's. Intravital microscopy and optical Doppler velocimetry were used to measure large (A1) and small, premucosal (A3) arteriolar diameters and RBC velocity; microvascular blood flow was calculated. MAP and transpulmonary CO were measured. During HEM, control animals developed A1 constriction and hypoperfusion with A3 arteriolar dilation. PHEN treatment prevented A1 constriction and enhanced A3 dilation but did not improve flow. Immediately after RES in controls, microvascular diameters and A1 flow returned to BL; however, over the 2-hr post-RES period there was progressive A1 and A3 vasoconstriction and hypoperfusion despite maintenance of BL MAP and CO. After RES in PHEN-treated animals, A1 flow returned to BL, but progressive hypoperfusion was only partially prevented. alpha-Adrenergic-mediated vasoconstriction contributes to intestinal hypoperfusion after HEM, but other mechanisms are also involved in microvascular responses during RES.(ABSTRACT TRUNCATED AT 250 WORDS)
Iterative filtered backprojection (FBP) reconstruction is a fast method for single photon emission computed tomography (SPECT) that can provide simultaneous compensation for nonuniform attenuation, scatter, and distance-dependent detector response. The iterative FBP method was applied to the reconstruction of SPECT images of a chest phantom consisting of nonuniform attenuating media. One hundred twenty projections containing 20 million counts were reconstructed on an image array of 128 x 128 x 64. The accuracy of reconstruction was significantly improved, in terms of concentration ratio, object shape, and noise reduction. Results of this experimental study indicate that interactive FBP can effectively reconstruct SPECT images, while other iterative methods, such as maximum a posteriori probability (MAP), will spend at least ten times more computing effort in the reconstruction on the same computer. The disadvantage of iterative FBP is its inability to model the noise properties of data collection accurately, as compared to the MAP methods.
We have developed a battery of tests to characterize monoclonal antibodies and assess the effect of potential manufacturing process changes. Tryptic peptide mapping, molecular weight determination by HPLC and classical light scattering, isoelectric focussing, oligosaccharide mapping by HPAE-PAD chromatography, circular dichroism spectra and differential scanning calorimetry were applied as sensitive assays of antibody structure. Biological activity was assessed by measurement of specific antigen binding activity, binding spectrum and opsonic activity. Pharmacokinetics was assessed by clearance rate studies in rats. The sensitivity of this battery of assays was demonstrated by the ability to readily detect differences between a human monoclonal antibody (IgM-2) produced by in vitro cell culture versus ascites culture. These same tests support equivalence of a second monoclonal antibody (IgM-1) produced before and after in vitro cell culture process improvements which resulted in a twofold increase in product titer.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
BACKGROUND: There is great interest in the use of computationally intensive methods for fine mapping of marker data. In this paper we develop methods based upon ideas originally proposed 100 years ago in the context of spatial clustering. METHODS: We use spatial clustering of haplotypes as a low-dimensional surrogate for the unobserved genealogy underlying a set of genotype data. In doing so we hope to avoid the computational complexity inherent in explicitly modelling details of the ancestry of the sample, while at the same time capturing the key correlations induced by that ancestry at a much lower computational cost. RESULTS: We benchmark our methods using the simulated Genetic Analysis Workshop 14 data, using 100 replicates of 4 phenotypes to indicate the power of our method. When a functional mutation relating to a trait is actually present, we find evidence for that mutation in 97 out of 100 replicates, on average. CONCLUSION: Our results show that our method has the ability to accurately infer the location of functional mutations from unphased genotype data.
Explore the source record for details and available documents.
Manometry involves many technical issues, and a complete understanding of all aspects of the esophageal testing process is required to study the human esophagus in a way that yields accurate, technically sound qualitative and quantitative studies that include the measure of esophageal length and positional plotting of transducers within the esophagus. Topics discussed are catheter measurement and memory; checking the system; performing manometry; patient history; intubation technique; marking, mapping, and measuring the esophagus, and analysis of results.