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Biomedical subjects

M C Baker

Publications and source records attributed to M C Baker.

At least 19 recordsLinked to original sources

Autosomal dominant dystonia-plus with cerebral calcifications.

OBJECTIVE: To report genealogic, clinical, imaging, neuropathologic, and genetic data from a Canadian kindred with dystonia and brain calcinosis originally described in 1985. METHODS: The authors performed clinical examinations and CT and PET studies of the head and analyzed blood samples. One autopsy was performed. RESULTS: The family tree was expanded to 166 individuals. No individuals were newly affected with dystonia, but postural tremor developed in two. The mean age at symptom onset was 19 years. Eight individuals had dystonia: three focal, one segmental, one multifocal, and three generalized. Seven displayed additional signs: chorea, intellectual decline, postural tremor, and dysarthria. CT studies were performed on five affected and 10 at-risk family members. All affected individuals and eight at-risk individuals had brain calcinosis. PET scans in two individuals showed reduced D(1)- and D(2)-receptor binding and reduced uptake of 6-[(18)F]fluoro-l-dopa. Autopsy of one affected individual showed extensive depositions of calcium in the basal ganglia, thalamus, cerebral white matter, and cerebellum. No specific immunohistochemistry abnormalities were seen. Genome search data showed no evidence of linkage to the previously described loci IBGC1, DYT1, and DYT12. CONCLUSIONS: The phenotype of this family consists of dystonia-plus syndrome. Brain calcium deposits vary in severity and distribution, suggesting that calcifications alone are not entirely responsible for the observed clinical signs. Further studies are needed to elucidate the etiology of this heterogeneous group of disorders.

Adolescent↗

Religious commitment and the construal of sources of help for emotional problems.

Religious commitment as an influence upon seeking help for psychological problems has not received the same level of research attention as variables such as sex, ethnicity and cultural background. The construing of members of a group of committed UK Christians was investigated, regarding their receiving such help from a variety of different helpers, professional and non-professional, secular and spiritual. Each participant was asked to interpret the factors statistically identified from construct and element relationships in a repertory grid that they had completed. Their commentaries formed the data for a qualitative thematic analysis, which gave rise to four main themes. From these, a tentative model is discussed. Possible implications for the acceptance of service provision by the substantial minority groups of religiously committed people in the UK are considered in the light of this model--and in the light of the further research that would be needed to establish it.

Adult↗

Assessment of patient satisfaction with pain management in small community inpatient and outpatient settings.

PURPOSE/OBJECTIVES: To describe patient outcomes (e.g., pain intensity and relief, satisfaction, expectations) and analgesic practices of healthcare providers for inpatients and outpatients in community hospital settings. DESIGN: Descriptive, correlational, and random sampling. SETTING: Three community-based institutions in southeast Louisiana. SAMPLE: 114 inpatients and outpatients with cancer-related or acute postoperative pain. Inpatients (n = 68) mostly were women and younger than 60 years of age. Outpatients (n = 46) mostly were men and older than 60 years of age. Both groups were predominantly well-educated and Caucasian. METHODS: Subjects completed a modified version of the American Pain Society's Patient Satisfaction Survey. Researchers completed a chart audit tool reviewing analgesic prescriptive and administrative practices. FINDINGS: Weak to moderately strong correlations existed for the relationships between the satisfaction variables and the pain intensity, pain relief, and expectation variables for all subjects. Satisfaction with current pain intensity was correlated most strongly with pain intensity and relief scores. Higher pain intensity and relief were related to lower satisfaction with current pain intensity. CONCLUSIONS: Regardless of setting or pain type, subjects experienced significant amounts of pain during a 24-hour period. Patient expectations for experiencing high levels of pain were realized, but expectations for significant pain relief were not. IMPLICATIONS FOR NURSING PRACTICE: Institutional pain management programs that approach pain from a multidimensional perspective need to be developed. Continued education for healthcare professionals and patients is a vital part of this process.

Adult↗

Diffuse large cell (Kiel-1) lymphoma with a t(9;11)(p21-22;q13) and a missing Y as the only chromosome changes.

We describe a diffuse large cell (Kiel-1) lymphoma in a 76-year-old man that is noteworthy because, apart from a missing Y, the only chromosome change was a hitherto undescribed reciprocal translocation, t(9;11)(p21-22;q13). It is interesting that the breakpoints lay in the vicinity of genes that encode proteins engaged in cell cycle control: CCND1 situated at 11q13 and p15 and p16 at 9p21.

Cell Cycle↗

Chromosome abnormalities and p53 expression in a small cell carcinoma of the bladder.

Chromosome studies on a highly malignant tumor, a small cell carcinoma of the bladder (the first to be studied cytogenetically), showed a hypertriploid mainline and a hypertetraploid minor line. Extensive chromosomal rearrangements were present in both lines, some rearranged chromosomes being seen in only one of the lines, while others, derived from chromosomes 6, 9, 11, 13, and 18, were seen in both. Although different giant chromosomes were present in the two lines, they shared a possibly significant common feature: multiple copies of 2q. DNA flow cytometry confirmed that the tumor had a hypertriploid main mode and showed that dysplastic surface epithelium present in the histologic material also had a hypertriploid DNA index. p53 expression in the tumor was demonstrated by flow cytometry.

Carcinoma, Small Cell↗

Ectopic nucleolar organizer regions. A common anomaly revealed by Ag-NOR staining of metaphases from nine cancers.

In view of the sparsity of reports on nucleolar organizer regions (NORs) in human tumor metaphase chromosomes, we have applied the silver (Ag-NOR) technique to a previously studied testicular germ-cell tumor that had an abnormal translocation, which involved a 13p, and to nine new sequentially studied tumors. Six of the new tumors, and the germ cell tumor, showed ectopic NORs (e.g., at the end of the long arm of acrocentrics or metacentrics, or interstitially in metacentrics): five carcinomas and a leiomyosarcoma, all of which also revealed numerous structural chromosome changes after G-banding. The three tumors that did not show ectopic NORs were lymphomas with relatively simple karyotypic changes. It seems that the presence of ectopic NORs in the majority of the tumors is a reflection of the multiplicity of structural changes in these tumors and does not signify that there is any particular propensity for acrocentrics to take part in these changes. It was interesting that several of the chromosomes showed large notably a metacentric in a squamous cell carcinoma of the skin in which the Ag-NOR-positive region was seen as an unstained gap in unbanded and G-banded chromosomes.

Adult↗

A packaging update. Recycling, testing, and pricing.

Europe has taken legislative measures to improve the management of packaging and packaging waste. This article outlines the arguments for excluding medical device packaging from the provisions of the recently published European Directive on packaging and packaging waste. Developments in a new barrier test method and further increases in the price of raw materials are also discussed.

Equipment Reuse↗

Derivative chromosome, der(17;22)(q10;q10), in two carcinomas of the cervix uteri and one of the skin.

In a previous study, we described 17p+ chromosomes in about 40% of carcinomas of the cervix, but it was usually not possible to identify the additional material on the short arm of the chromosome 17. Here we report an apparently identical rearranged chromosome in two squamous cell carcinomas of the cervix and one of the skin, in which the whole of 17p has been replaced by the long arm of a chromosome 22: der(17;22)(q10;q10), suggesting that this rearrangement may represent a significant step in the development of carcinomas of the cervix and other sites.

Adult↗

Chromosome 12-containing markers, including two dicentrics, in three i(12p)-negative testicular germ cell tumors.

A chromosome 12-derived marker was seen in each of 3 testicular germ cell tumors that lacked the i(12p). An interesting feature of 2 of the markers was that the major part, including the centromere, of an acrocentric (a #13 and #14, respectively) was translocated onto 12p, resulting in a dicentric. In the third tumor, 13q (translocated onto 12q) was again probably involved in the rearrangement. The findings support the view that the amplification of genes on 12p represents a significant step in the development of germ cell tumors.

Adult↗

Pediatric fiberoptic video bronchoscopy: the use of computer interfacing.

Conventional video-recordings of pediatric bronchoscopic procedures are routinely performed in many centers. The limitations of conventional video-recordings include an inability to concurrently compare serially recorded images, lack of color fidelity of the displayed image, difficulty in image retrieval of archived video, and the inability to subject the image to mathematical analysis. We describe a computer interface which addresses each of these limitations.

Bronchoscopes↗

Chromosome 7q deletions: observations on 13 malignant tumors.

Deletions of the long arm of chromosome 7, with breakpoints varying from q11 to q34, are described in 13 malignant tumors, including three carcinomas of the prostate, three colorectal carcinomas, and four testicular germ cell tumors. In two of the tumors, the chromosome also had a deletion of 7p. Review of the literature shows that 7q- chromosomes have been detected in various tumor types and are particularly common in benign and malignant mesothelial tumors, secondary leukemias, testicular cancers, and carcinomas of the ovary and prostate. Their significance may lie in loss of an unknown tumor-suppressor gene situated distally on 7q.

Breast Neoplasms↗

X-chromatin, sex chromosomes, and ploidy in 37 germ cell tumors of the testis.

X-chromatin was present in interphase cells from nine of 14 teratomas and all of three combined tumors, but only one of 20 seminomas (which tended to have higher chromosome numbers). Eight of the 37 tumors were karyotyped; seven, only one of which (a teratoma) was X-chromatin-positive, had two X chromosomes while one, the X-chromatin-positive seminoma, had three. A possible relationship between the presence of inactive, X-chromatin-forming, X chromosomes and the number of autosomes is suggested by the data on the eight karyotyped tumors; the ratio of the number of Xs to the number of autosomes was higher for the two X-chromatin-positive tumors than for the remainder. All eight had at least one Y chromosome, and eight further tumors had one to three Y-bodies in their interphase cells. It is uncertain whether retention of the Y is a characteristic of male germ cell tumors, as tumors lacking a Y have been described by other workers. Two characteristics of these tumors, however, are high ploidy (at least 55 chromosomes), perhaps signifying an origin from a triploid or tetraploid cell, and chromosome 12 aberrations, usually resulting in an i(12p).

Chromatin↗

Numerical chromosome changes in 165 malignant tumors. Evidence for a nonrandom distribution of normal chromosomes.

The numbers of normal copies of each of the chromosomes in representative karyotypes from 165 malignant tumors of the bladder, breast, cervix, colorectum, and testis studied in this laboratory or described in the literature were assessed to determine whether particular chromosomes were over- or underrepresented. For each chromosome, the mean number of copies was expressed as a percentage of the number expected on the basis of the total number of chromosomes in the karyotypes. The most highly represented autosomes in the tumors as a whole were, in descending order of frequency, numbers 7, 20, 12, 19, 21, and 3, while those most underrepresented were numbers 10, 1, 4, 5, 14, 17, 11, and 18. In tumors of males, the Y tended to be underrepresented. The X was highly represented in the testicular tumors (there were usually two or more copies) and in colorectal tumors of males, but not in the other tumor categories studied. For the tumors as a whole, statistically significant differences could be demonstrated between pairs of autosomes that were at opposite ends of the frequency range. Differences between tumors at the different sites studied were not demonstrable. It is suggested that the determination of the number of normal copies of chromosomes, i.e., whether there are more or fewer than expected, may usefully complement observations on structural changes by reflecting the presence of oncogenes and tumor-suppressor genes, respectively. It may also point to chromosomes that are involved in significant genic changes in which cytogenetic observations on structural changes are equivocal.

Breast Neoplasms↗