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Biomedical subjects

C M Moore

Publications and source records attributed to C M Moore.

At least 91 records · Page 5Linked to original sources

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.

We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

Adult↗

Trisomy 8p: unusual origin detected by fluorescence in situ hybridization.

Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. G-banding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromeric-specific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.

Chromosomes, Human, Pair 14↗

Chromosomal analysis of pregnancy losses in patients undergoing assisted reproduction.

Chromosomal analysis was performed on products of conception from 18 patients having early pregnancy loss after assisted reproduction. Sonographic findings prior to obtaining tissue varied from gestational sacs consistent with a blighted ovum to fetal poles with cardiac activity. The mean age of the patients was 36.3 years. There were nine (50%) normal karyotypes, five (28%) autosomal trisomies, two cases of tetraploidy, one case of monosomy, and a case with two pericentric inversions. The results of this study suggest that patients undergoing assisted reproduction are not at an increased risk for chromosomal abnormalities.

Abortion, Spontaneous↗

A problem-based learning approach to teaching medical genetics.

A newly developed problem-based medical genetics course that was integrated into the fourth-year medical school curriculum of the University of Texas Health Science Center at San Antonio is described. To provide a basic genetic background for the clinical rotations, a supplemental computer tutorial is required during the second year. These two formats prepare the medical students to recognize genetic diseases, to provide basic genetic counseling in their daily practice, and to appropriately refer patients to genetic specialists.

Computer-Assisted Instruction↗

High-performance liquid chromatographic determination of cephalosporin antibiotics using 0.3 mm I.D. columns.

Four cephalosporins, cefazolin, ceftizoxime, cefaloridine and cefaclor, were determined using a novel microbore high-performance liquid chromatographic system designed to be entirely compatible with direct liquid interfacing (DLI) for mass spectrometric analysis. The chromatographic support was a 5-micron C18 column of 0.3 mm I.D., compared with the usual microbore column diameters of 1-2 mm. The mobile phase contained no buffers or salts which may have caused column blocking or mobile phase crystallization, and the use of a concentration column allowed the injection of large volumes of analyte (up to 500 microliters). The assay was reproducible, the relative standard deviations being less than 20% within-day and between-day for all the drugs. The detection limit for cefaloridine and cefazolin was 1 ng and for cefaclor and ceftizoxime 5 ng.

Cefaclor↗

Usefulness of commercial memory aids as a function of age.

Recent research has produced disagreement about the usage and usefulness of external memory aids across age groups. The present study examined the use and perceived usefulness of commercial memory aids as a function of the ages of users and potential users. Three age groups (ages 20, 45 and 65 years) were asked to indicate whether they owned each of thirty different commercial aids and regardless of ownership, to rate the degree of usefulness of each of the aids. Each age group used certain aids or perceived certain aids as more useful, than did other age groups. The pattern of results suggest that memory aid usage differs with age partly because the memory tasks required of a person change with life stage.

Adult↗

A rapid method for the determination of cocaine in brain tissue.

A rapid procedure is described for the extraction and analysis of brain samples for cocaine and benzoylecgonine. Human brain tissue was sectioned at autopsy, and samples were subjected to a lipase digestion, subsequent to solid-phase extraction. The distribution of cocaine and benzoylecgonine throughout different regions of the brain was determined by high-performance liquid chromatography.

Brain Chemistry↗

Rapid monitoring of benzodiazepines in clinical samples by using on-line column switching HPLC.

We have determined routinely administered benzodiazepines and some of their metabolites in clinical samples by using on-line column switching for sample clean-up and reversed-phase high-pressure liquid chromatography (HPLC). The plasma sample is directly injected onto a cyanopropyl (CN) pre-column, washed with buffer, and eluted onto an analytical column (C18, octadecylsilane). Analytical recovery from drug-supplemented plasma samples was greater than 85% for all the benzodiazepines tested. The response of the analytical column varied linearly with drug concentrations over the range 0.01-1 mg/L in plasma, with CVs ranging from 0.3% to 1.8% within-day and 5.5% to 15.7% between days. The detection limit (signal-to-noise ratio greater than 3) was 0.01 mg/L (1 ng on column) for all of the benzodiazepines and their metabolites. The advantages of the technique include the extreme cleanliness of the traces, no requirement for off-line sample preparation, and ease of automation.

Autoanalysis↗

Determination of total hemoglobin in forensic blood samples with special reference to carboxyhemoglobin analysis.

For the determination of total hemoglobin (Hb) in blood containing elevated carboxyhemoglobin (COHb), a newly developed reagent containing a 100-fold concentration of ferricyanide (20 g/l) and a 2-fold concentration of Sterox SE was compared with a standard reagent (0.2 g/l ferricyanide), the reagent of van Kampen and Zijlstra, using forensic blood samples and experimentally heated blood samples. There were no significant differences between the spectra of hemiglobincyanide (HiCN) solution produced with our reagent and the van Kampen and Zijlstra reagent using experimentally heated blood samples. Although the spectra of HiCN changed gradually with increased heating time and with the passage of time after mixing, the absorbance at 540 nm (A540) did not change until at least 120 min for both the reagents. When forensic blood samples containing elevated COHb were mixed with the van Kampen and Zijlstra reagent, total-Hb concentrations determined 5 min after mixing were 10-20% higher than those determined after 180 min. The overestimates of total Hb determined after 5 min resulted in comparable underestimates of percentage saturation of COHb (COHb%) when COHb% was obtained from the ratio of COHb content, determined by gas chromatogrpahy, to total-Hb concentration in blood. However, there was an extremely good correlation between the values of total Hb in forensic blood samples determined with the van Kampen and Zijlstra reagent after 180 min and those determined with our reagent after 5 min. From the results obtained, our reagent proved to be suitable for the determination of total Hb in forensic science practice.

Blood Preservation↗

An overview of continuous protein purification processes.

As the sphere of influence of recombinant technology moves away from the laboratory bench, towards product commercialization, development of manufacturing and large scale process technology is becoming a major challenge and determinant for commercial success. The challenge is particularly acute for protein purification process development where protein purification costs tend to dominate overall process economics. The primary objective for process scale purification is to minimize cost for a purified product which meets specifications. Continuous processes may be used to facilitate achievement of the overall objectives. This review critically examines the use of continuous processing for protein purification and recovery operations. The processes have been divided into three general areas: adsorptive and chromatographic, electrophoretic, and extractive. Consideration is given to the operational advantages and limitations of the reviewed processes.

Journal Article↗

Distribution of chromosomal polymorphisms in three subspecies of squirrel monkeys (genus Saimiri).

The presence of nucleolar organizer regions (NORs) and C-band polymorphisms has been examined in three subspecies of squirrel monkeys, Saimiri sciureus sciureus, S. boliviensis boliviensis, and S. boliviensis peruviensis. Pericentric inversions in chromosomes 15 and 16 were also examined in the three groups. Chromosome 15 was acrocentric in S. s. sciureus and submetacentric in S.b. boliviensis and S.b. peruviensis. Chromosome 16 was acrocentric in S.s. sciureus and S.b. boliviensis while being submetacentric in S.b. peruviensis. There was a significant difference in the distribution of the C-band polymorphisms on chromosomes 5 and 14 in the three groups, as determined by Chi-square analysis, while no difference was observed in the distribution of the NOR polymorphism on chromosome 2. The NOR polymorphism and the interstitial C-band polymorphism of chromosome 14 were found in all three groups; the C-band polymorphism of chromosome 5 was found only in S.s. sciureus. Twelve pedigreed families were examined. Pedigree analyses were consistent with codominant inheritance of each polymorphism. The results of these cytogenetic studies in squirrel monkeys are pertinent to genetic management and research protocols.

Animals↗

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

We report on a male infant with X-linked ichthyosis, X-linked Kallmann syndrome, and X-linked recessive chondrodysplasia punctata (CPXR). Chromosome analysis showed a terminal deletion with a breakpoint at Xp22.31, inherited maternally. This patient confirms the localization of XLI, XLK, and CPXR to this region of the X chromosome and represents an example of a "contiguous gene syndrome." A comparison of the manifestations of patients with CPXR, warfarin embryopathy, and vitamin K epoxide reductase deficiency shows a remarkable similarity. However, vitamin K epoxide reductase deficiency does not appear to be the cause of CPXR. We propose that CPXR may be due to a defect in a vitamin K-dependent bone protein such as vitamin K-dependent bone carboxylase, osteocalcin, or matrix Gla protein.

Chondrodysplasia Punctata↗

cDNA sequence, interspecies comparison, and gene mapping analysis of argininosuccinate lyase.

A cDNA clone of the argininosuccinate lyase gene (ASL) was isolated from an adult human liver library by probing with synthetic oligonucleotide probes. This clone and a yeast genomic DNA fragment containing the ASL gene were sequenced using the M13-dideoxynucleotide method. Comparison of the yeast and human clones at the nucleotide and putative amino acid sequence levels indicated identities of 50 and 54%, respectively. The most conserved region of the yeast gene was used to detect human clones in the liver cDNA library to test phylogenetic screening capabilities of conserved genes. ASL was mapped to human chromosome 7pter----q22 using human-mouse somatic cell hybrid DNA and further mapped by in situ hybridization to chromosome 7cen----q11.2 on human metaphase chromosomes. The probe also detected a sequence on chromosome 22. Somatic cell hybrid DNA digested with PvuII revealed a mouse polymorphism between Balb/c and C3H mice in the ASL gene.

Amino Acid Sequence↗

Rapid extraction of oxazepam from greyhound urine for high performance liquid chromatography analysis.

A rapid and efficient procedure is described for the extraction and analysis of oxazepam, the major urinary metabolite of diazepam in greyhounds. Urine was extracted by passing through a bonded silica column (Bond Elut) following enzyme hydrolysis. The adsorbed drug was eluted and then detected and measured by high performance liquid chromatography (HPLC). Recoveries were in excess of 85% at 50 ng/ml concentrations. Detection was possible up to 30 h after a single oral dose of diazepam (5 mg).

Animals↗