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Biomedical subjects

R Slater

Publications and source records attributed to R Slater.

At least 19 recordsLinked to original sources

Documentation of Burkitt lymphoma with t(8;14) (q24;q32) in X-linked lymphoproliferative disease.

BACKGROUND: Acquired hypogammaglobulinemia or agammaglobulinemia, aplastic anemia, chronic or fatal infectious mononucleosis (IM), virus-associated hemophagocytic syndrome, and a variety of B-cell malignant lymphomas (ML) develop in boys with X-linked lymphoproliferative disease (XLP) after infection by the Epstein-Barr virus (EBV). They have an inherited immunodeficiency to EBV. Approximately 80% of the patients die during childhood and 100% by the age of 40. The ML occurring in patients with XLP are different from those of other populations in that there is a maternal family history of males with phenotypes of XLP, particularly ML involving the ileocecal region. METHODS: This article describes two brothers with XLP in whom ML developed. Also, a maternally related male cousin had died of aplastic anemia complicating IM. RESULTS: A Burkitt lymphoma (BL)-specific translocation of t(8;14) (q24;q32) was observed in the BL cells of the younger brother. The histopathologic appearance and rapid relapse after complete remission in the patient also are suggestive of this aggressive phenotype. CONCLUSIONS: This tumor in the patient documents that the BL of patients with XLP probably arises from characteristic tumor-specific chromosomal translocations, as hypothesized in 1980.

Burkitt Lymphoma

Semi-automated detection of aberrant chromosomes in bivariate flow karyotypes.

A method is described that is designed to compare, in a standardized procedure, bivariate flow karyotypes of Hoechst 33258 (HO)/Chromomycin A3 (CA) stained human chromosomes from cells with aberrations with a reference flow karyotype of normal chromosomes. In addition to uniform normalization of normal and abnormal flow karyotypes, the main purpose is detection of structurally abnormal chromosomes in often complex karyotypes of tumor cells. The method, which has been implemented in a computer program, consists of a comparison of individual chromosome peaks with the positions of peaks in the flow karyotype constituted by normal chromosomes and takes into account the natural variability in base composition of normal chromosomes among healthy individuals. Flow-karyotypes are normalized using an iterative fitting procedure, using corrections for (1) amplification of HO and CA fluorescence, (2) cross-talk between the fluorescence signals of HO and CA, and (3) offset of the HO and CA origin. Flow karyotypes of two cell lines, one with a simple deletion and the other with more complex karyotypic changes, were analyzed. The results of flow analysis were found to be in general agreement with the cytogenetic analysis of quinacrine banded karyotypes.

Cells, Cultured

Pancoast tumor: use of MRI for tumor staging.

Pancoast tumors (superior sulcus tumors) are apical lung cancers that may cause any or all of the symptoms originally described in 1932 as Pancoast's syndrome. We have presented a case report and a review of pertinent literature on the treatment of this tumor. Our patient was treated with preoperative radiation and en bloc tumor resection, the current standard of care for cure of Pancoast tumor. We support an aggressive approach in the treatment of this tumor, as radiation followed by radical tumor resection offers good palliation and the best chance for cure. Magnetic resonance imaging has emerged as the procedure of choice to assess the local extent of tumor, and in our patient, MRI accurately predicted that the tumor was resectable.

Female

Differences in patterns of allelic loss between two common types of adult cancer, breast and colon carcinoma, and Wilms' tumor of childhood.

Several chromosomal regions exhibit loss of heterozygosity (LOH) in different types of human tumor, and on this basis are presumed to carry-suppressor genes. We studied 7 of such chromosome regions, including 3p, 5q, 11p, 13q, 17p, 18q and 22q, using a selected set of DNA markers in 44 Wilms' tumors, 64 breast and 83 colon carcinomas. In Wilms' tumor only the short arm of chromosome 11 was preferentially involved (38% of the informative cases), whereas in breast and colorectal carcinomas all investigated chromosome regions showed allelic loss at frequencies ranging from 19-61% and 12-55%, respectively. We tried to explain this difference in terms of developmental stages and tissue homeostasis of the organs involved. We postulate that more widespread occurrence of allele loss in colorectal and breast carcinomas compared to Wilms' tumor is associated with a difference in the differentiation status of the tissues at the time of tumor initiation.

Adult

Characterization of a de novo duplication of 11p14----p13, using fluorescent in situ hybridization and southern hybridization.

A de novo 11p+ chromosome was found in a child with mild mental retardation but no other remarkable dysmorphic characteristics. Banding studies suggested a duplication of regions 11p13 and 11p14 or regions 11p14 and 11p15. Using fluorescent in situ hybridization and digital imaging microscopy, we mapped probe p32.1 (D11S16) to the proximal part of region 11p14 (11p14.1) and demonstrated duplication of this probe in our patient. Southern hybridization showed duplication of p32.1 and other probes located at 11p13 and 11p14, but the gene for alpha calcitonin (CALCA), located at 11p15, was not duplicated. The application of these techniques led to the identification of the duplication as dir dup(11)(pter----p13::p15.1----qter).

Blotting, Southern

The prognostic significance of chromosomal findings in patients with acute myeloid leukemia in a study comparing the efficacy of autologous and allogeneic bone marrow transplantation.

In a prospective study designed to assess the efficacy of autologous bone marrow transplantation (BMT) and allogeneic BMT in patients with acute myeloid leukemia, we analysed the prognostic significance of chromosomal findings for obtaining complete remission (CR), disease-free survival and survival. Patients with a normal karyotype were more likely to achieve CR than patients with an abnormal chromosomal analysis (p = 0.02). There was no difference observed in survival from CR between patients with or without chromosomal abnormalities, nor was there a difference if the analysis was restricted to subgroups of allogeneic or autologous BMT treated patients. Applying prognostic cytogenetic criteria as defined by Keating et al. (remission induction: good risk: t(8;21) or inv(16), intermediate risk: normal or 45,X,-Y or t(15;17) and poor risk: all other; remission duration: good risk: t(15;17) or inv(16), intermediate risk: normal, 45,X,-Y or t(8;21) and poor risk: all other) no differences were observed between good and intermediate prognosis groups, although the poor prognosis group had a reduced CR rate.

Adolescent

Barriers to mobility: physically-disabled and frail elderly people in their local outdoor environment.

This paper reports the results of a central government funded two-year project which investigated problems associated with the mobility of physically handicapped people in their external physical environment. Whilst most people who possess below average physical capacity would, even in the most ideal of physical surroundings, experience mobility problems, such inherent personal difficulties are being aggravated by street environments exhibiting symptoms of neglect. Although the difficulties experienced by people in this study can be seen partly as a function of their physical disabilities even elderly people who could be considered as reasonably able-bodied, were reporting difficulty in their local area. A number of the environmental difficulties people reported can be related to existing legislation not being enforced whilst in others to the need for legislation to be entered on to the statute book.

Aged

Benign recurrent vertigo.

Patients with recurrent vertigo in the absence of cochlear signs remain a diagnostic problem. The absence of a standard system of nomenclature further hampers the understanding of these disorders. The term benign recurrent vertigo is suggested as a useful term to characterise many of these patients. The disorder shares some of the features of migraine, and seems likely to have a similar vasospastic aetiology.

Adult

The quality of verbal interaction in homes for old people.

Some 4,500 verbal exchanges among residents, and between staff and residents were recorded during structured observations in eight British purpose-built Homes for old people. These interactions were initially categorised as 'supportive/acceptive' or as 'other'. Subsequently, the 'other' data from four of the Homes was further classified as 'instrumental' and 'unclassifiable'. The participants in the exchanges were noted (resident or staff) as was the mental status assigned to residents ('confused' or 'rational'). The data suggest that interactions among residents are more likely to be supportive/acceptive than are those between staff and residents; that, similarly, interactions among rational residents are more likely to be supportive than those between rational and confused residents, or than those among confused residents. Interactions between rational and confused residents are more likely to be supportive than those among confused patients. Further, the data indicate that interactions between staff and rational residents, and between staff and confused residents do not differ in quality; predominantly, interactions between staff and residents are instrumental. These interpretations of the data are discussed in relation to the care of residents in institutional settings.

Aged

Alterations in regional cerebral hemodynamics and metabolism produced by focal cerebral ischemia.

Since diffuse changes in blood flow and metabolism occur in the brain following a focal ischemic insult, changes of cerebral blood flow on the side opposite a cerebral infarction were observed. We have examined the course of the cerebral hemodynamic changes occurring in 15 patients with unilateral acute strokes. In 12 of these patients, significant blood flow changes (over 15%) occurred in the nonischemic hemisphere during the period of observation. A similar time course of change was found in the ischemic hemisphere and the flow changes in the two hemispheres appeared parallel to one another (diaschisis). Thus we have demonstrated a significant reduction in flow in the contralateral cortex following a unilateral ischemic insult. This reduction in flow was of the order of 38% from the control value which agrees quite well with the reduction in cortical glucose consumption of the order of 31%. We postulate that these changes are the hemodynamic and metabolic concomitants of diaschisis and may in part be due to a transneuronal depression of function.

Animals

Radionecrosis of the brain presenting as a mass lesion: a case report.

A case of radionecrosis of the brain in a patient previously treated for squamous cell carcinoma of the scalp is presented. Cerebral angiography revealed a mass effect primarily in the right frontal area. Computed tomography showed extensive hemispheric oedema. A frontal lobectomy was performed, and the recovery was excellent. The lower limit for brain tolerance for irradiation is about 5000 rads given in five weeks. This dose should not be exceeded when extracranial lesions are treated. Although computed tomography cannot diagnose brain necrosis, specifically, it should, along with the clinical history, be very helpful.

Brain

Architectural design: the spatial location and interactions of old people.

Residents' interactions in the sitting spaces of purpose-built Homes for old people were studied by participant and structural observation. Eight Homes were sampled from a larger number to represent factors of size (large and small), design (institutional and family) and mental designation of residents (confused or rational). Verbal exchanges between residents were analysed in terms of initiators' and respondents' mental designations. The residents' locations within the sitting spaces and in the sleeping and dining areas of the Homes were recorded. Examination of these data suggests that residents of different mental designations are segregated from each other. Some architectural design elements of physical settings that might foster integration are outlined.

Aged

Transfusion therapy for cerebrovascular abnormalities in sickle cell disease.

Cerebral angiograms were performed in patients with sickle cell disease and symptoms of stroke to evaluate transfusion therapy for cerebrovascular accidents. Three patients who were transfused repeatedly for one year to maintain less than 30% hemoglobin S were compared to two patients who were not transfused. All patients had abnormal angiograms initially. After one year the angiographic abnormalities resolved in two and improved in one transfused child. The two children who were not transfused showed progressive vascular disease. For all arteriograms, the patients were prepared by transfusion with normal red cells and careful hydration.

Anemia, Sickle Cell