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Biomedical subjects

E Thompson

Publications and source records attributed to E Thompson.

At least 91 records · Page 5Linked to original sources
PubMed1998

Intrathecal baclofen and homeopathy for the treatment of painful muscle spasms associated with malignant spinal cord compression.

In this case study we describe a dual approach to the palliation of difficult muscle spasms using intrathecal baclofen via a fully implanted system, together with the homeopathic approach to symptom control. The homeopathy is seen to complement rather than to replace conventional prescribing and using both approaches together appears to have avoided the necessity for increasing drug doses and to have minimized side-effects. As well as encouraging us to take on experience from other disciplines, this case study also suggests that palliative care could be a forum for evaluating the effectiveness of the homeopathic approach in symptom control in carefully designed studies.

Aged↗
PubMed1998

Meta-analysis of chemotherapy versus combined modality treatment trials in Hodgkin's disease. International Database on Hodgkin's Disease Overview Study Group.

DESIGN: To perform a meta-analysis of all randomized trials that compared chemotherapy (CT) alone versus combined modality treatment (CT + radiotherapy [RT]) for which individual patient data could be made available. PATIENTS AND METHODS: Data on 1,740 patients treated on 14 different trials that included 16 relevant comparisons have been analysed. Eight comparisons were designed to evaluate the benefit of additional RT after the same CT (CT1 v CT1 + RT; additional RT design). Eight comparisons were designed to evaluate whether RT in a combined modality setting can be substituted by CT using either more cycles of the same CT or regimens that contain additional drugs (CT1 + CT2 v CT1 + RT or CT1 v CT2 + RT; parallel RT/CT design). RESULTS: Additional RT showed an 11% overall improvement in tumor control rate after 10 years (P = .0001; 95% confidence interval [CI], 4% to 18%). No difference could be detected with respect to overall survival (P = .57; 95% CI, -10% to 4%). In contrast, when combined modality treatment was compared with CT alone in the parallel-design trials, no difference could be detected in tumor control rates (P = .43; 95% CI, -6% to 9%), but overall survival was significantly better after 10 years in the group that did not receive RT (P = .045; 8% difference; 95% CI, 1% to 15%). There were significantly fewer fatal events among patients in continuous complete remission (relative risk [RR], 1.73; 95% CI, 1.17 to 2.53; P = .005) if no RT was given. CONCLUSION: Combined modality treatment in patients with advanced-stage Hodgkin's disease overall has a significantly inferior long-term survival outcome than CT alone if CT is given over an appropriate number of cycles. The role of RT in this setting is limited to specific indications.

Antineoplastic Agents↗
PubMed1998

Autosomal dominant Klippel-Feil anomaly with cleft palate.

Klippel-Feil anomaly is characterized by the fusion of two or more cervical vertebrae. Most cases are sporadic but dominant and recessive inheritance are well described. Associated anomalies such as a cleft palate are common. We describe a unique family with autosomal dominantly inherited Klippel-Feil anomaly in six individuals associated with a cleft palate in four. One patient, a child, has a cleft palate only but may develop radiological cervical fusion with time, as documented in two other family members.

Adult↗
PubMed1998

Utility and cost-savings of diagnostic laparoscopy in low-probability gunshot wounds of the abdomen.

Gunshot wounds of the abdomen are associated with a 90% or greater incidence of intra-abdominal injury, prompting many trauma centers to routinely explore these patients via laparotomy. Increasingly, diagnostic laparoscopy has been used to evaluated the abdomen to exclude peritoneal violation by the missile. Retrospective analysis of the experience at a Level I Trauma Center with 20 isolated abdominal gunshot wound patients who did not have obvious indications for laparotomy such as peritonitis or shock is detailed. Outcome and cost analysis were compared in patients who had diagnostic laparoscopy or laparotomy. Patients who underwent diagnostic laparoscopy instead of laparotomy had a 42% reduction in operative time, a 33% reduction in hospital charges, and a reduction in hospital length of stay from an average of 3.5 days to less than one day. The only operative complication noted was in a patient who underwent laparotomy. Diagnostic laparoscopy may be used in select patients to exclude significant intra-abdominal injuries following gunshot wounds of the abdomen with reduction in health care costs and morbidity.

Abdominal Injuries↗
PubMed1997

A gene for FG syndrome maps in the Xq12-q21.31 region.

FG syndrome is an X-linked recessive condition in which mental retardation is associated with congenital hypotonia, macrocephaly, characteristic face, and constipation. This syndrome was mapped by Zhu et al. [Cytogenet Cell Genet 1991;58:2091A] to Xq21.31-q22 by linkage analysis with a max lod score of 1.2 for the DXYS1X, DXS178, DXS101, and DXS94 loci and crossovers at DXS16 (Xp22.31) and DXS287 (Xq22.3). However, this mapping was only provisional and needed to be refined. In this paper, we report the results of a new linkage analysis performed on 10 families including that studied by Zhu et al. [1991]. Two-point analysis demonstrated linkage with DXS441 (Zmax = 3.39 at theta = 0.12) at Xq13. In addition, separate analysis of the lod scores obtained for the Xq13 markers suggested linkage exclusion for three families. Genetic heterogeneity was confirmed by analysis of the linkage results with the HOMOG program (max logL = 4.07, theta = 0, alpha = 0.65). Localization of one FG gene between DXS135 and DXS1066 was suggested by analysis of crossovers found in those three families which were assumed to be linked to Xq13 with a probability of 0.95 or more. This region could be reduced to the DXS135-DXS72 interval after combining our data with those from deletions previously described in males in the Xq13-q21 region.

Abnormalities, Multiple↗
PubMed1997

Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes.

Protein S deficiency is a known risk factor for thrombosis. The coexistence of phenotypic type I (reduction in total and free antigen) and type III (reduction in free antigen only) protein S deficiencies in 14 of 18 families was recently reported. We investigated the cause of this phenotypic variation in the largest of these families (122 family members, including 44 affected individuals) using both molecular genetic and phenotypic analysis. We have identified a sole causative mutation (Gly295Val) in three family members representative of the variable phenotype. Complete cosegregation of the mutation with reduced free protein S antigen levels was found, regardless of the total antigen level. Analysis of phenotypic data showed high correlations between total protein S antigen and age in both normal and protein S-deficient family members, irrespective of gender. Free protein S antigen levels were not influenced by age, a finding explained by an association between beta-chain containing C4b-binding protein (C4bBP-beta+) antigen levels and age. We propose that the identified Gly295Val mutation causes quantitative, or type I, protein S deficiency, and that as age increases the total protein S antigen level normalizes with respect to the reference plasma pool, giving rise to a type III protein S-deficient phenotype.

Adolescent↗
PubMed1997

Symbol grounding: a bridge from artificial life, to artificial intelligence.

This paper develops a bridge from AL issues about the symbol-matter relation to AI issues about symbol-grounding by focusing on the concepts of formality and syntactic interpretability. Using the DNA triplet-amino acid specification relation as a paradigm, it is argued that syntactic properties can be grounded as high-level features of the non-syntactic interactions in a physical dynamical system. This argument provides the basis for a rebuttal of John Searle's recent assertion that syntax is observer-relative (1990, 1992). But the argument as developed also challenges the classic symbol-processing theory of mind against which Searle is arguing, as well as the strong AL thesis that life is realizable in a purely computational medium. Finally, it provides a new line of support for the autonomous systems approach in AL and AI (Varela & Bourgine 1992a, 1992b).

Animals↗
PubMed1997

Mutation detection in FGFR2 craniosynostosis syndromes.

Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at-1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.

Adult↗
PubMed1997

Involvement of an octamer-like sequence within a crucial region of the androgen-dependent Slp enhancer.

Androgen dependence of the mouse sex-limited protein (Slp) gene is conferred by an enhancer encompassing a consensus hormone response element (HRE) and sites for several nonreceptor factors. The footprint IV (FPIV) region of the enhancer plays a key role in hormone- and tissue-specific response, both in vitro and in vivo. We characterized FPIV-binding factors by methylation interference analysis and UV cross-linking of several complexes evident in gel mobility-shift assays. The footprinting analysis revealed that distinct base contacts within the multiple nuclear protein-DNA complexes occurred primarily within a sequence similar to an octamer transcription factor (Oct-1) binding site. With additional data on approximate molecular weights from UV cross-linking, several plausible candidates were tested for their DNA binding and functional activity at FPIV. Oct-like protein binding in gel-shift assays with several cell and tissue extracts was evident using specific competitors and antibodies, but was lower in affinity for FPIV than for an Oct-1 consensus site. Site-directed mutation of the FPIV sequence to a consensus Oct-1 element within the Slp enhancer context increased Oct-1 binding in vitro, but greatly reduced hormonal induction in vivo. This suggested that Oct-1 is not directly involved in response, or alternatively, that Oct-1 bound to the lower-affinity site interacts with neighboring factors significantly differently than Oct-1 bound to a consensus sequence. A sequence overlapping the Oct-like element that was similar to a hepatic nuclear factor-4 (HNF-4) site showed no ability to bind HNF-4 in vitro, nor the related orphan receptor, chicken ovalbumin upstream promoter factor (COUP-TF). Intriguingly, however, expression of COUP-TF in transfection had a dramatic inhibitory effect on response of the androgen-specific enhancer (C' delta9), but did not affect other enhancer configurations that can also be induced by glucocorticoid (C 'delta2). This underscores that, despite extensive sequence identity of C' delta9 and C' delta2, components of the androgen-specific transcription complex differ significantly from that of one that is more generally steroid responsive.

Androgens↗
PubMed1997

Negative interaction and body weight in later life.

This study assesses the relationship between negative interaction and body mass index values among older adults. Throughout, an emphasis is placed on probing for individual differences in response to unpleasant encounters with significant others. Individual variations in personality (introversion-extraversion) as well as social status (gender) are evaluated within this context. Tests of the complex three-way interaction between negative interaction, gender, and introversion reveal that more negative interaction is associated with higher body mass index values among elderly women who are introverted. In contrast, a significant relationship between negative interaction, introversion, and body mass failed to emerge for older men.

Aged↗
PubMed1997

Semiparametric estimation of major gene and family-specific random effects for age of onset.

Analysis of familial diseases with variable age of onset is a common problem in human genetics. Most existing methods make some parametric distributional assumption on age of onset, and few methods have been designed with the goal of testing the hypothesis of a Mendelian gene against other hypotheses of familial dependence. We introduce the Cox model with major genetic and random familial effects to model age-of-onset dependence patterns among family members and to incorporate family heterogeneity. This model allows testing for and estimating major gene effects in the presence of residual correlations. Generalized maximum likelihood estimation using a Monte Carlo EM algorithm is used for parameter estimation. The methods are illustrated by a simulated data set and a data set from a case-control family study of breast cancer.

Adult↗
PubMed1996

Contextual dependence of steroid receptor function on an androgen-responsive enhancer.

The enhancer of the mouse sex-limited protein (Slp) gene includes a consensus hormone response element (HRE) that interacts with several auxiliary elements for steroid induction. The 160-bp fragment. C' delta 2, confers response to androgen or glucocorticoid in transfection, while a 120-bp subfragment, C' delta 9, is activated only by androgen in some cells. Site-directed mutants were tested to identify elements affecting differential response of androgen or glucocorticoid receptors (AR, GR). While most mutations of C' delta 2 affected induction by either steroid similarly, disruptions of the consensus HRE or an octamer-like sequence were more severe for GR than AR activity. An HRE half-site was critical to androgen-specific induction of C' delta 9 but had little impact in the nonspecific C' delta 2 context. In DNase I footprinting, full-length AR and GR bound similarly to the consensus HRE but dissimilarly to nonconsensus sites. Intriguingly, NF-kappa B bound the region of C' delta 2 absent from C' delta 9. Expression of I kappa B decreased response of C' delta 2, but not C' delta 9, confirming a permissive role of NF-kappa B in steroid activation. In this case, different factors may associate with receptors in the presence of NF-kappa B than those that confer androgen specificity in NF-kappa B's absence, suggesting that exclusion of some factors from a specific transcription complex is as crucial as inclusion of others. This dissection of C' delta 2 and C' delta 9 in vitro reveals subtle distinctions in AR and GR interactions that may underlie specific hormonal response in vivo.

Androgens↗
PubMed1996

Evaluation of the effectiveness of guidelines, audit and feedback: improving the use of intravenous thrombolysis in patients with suspected acute myocardial infarction.

OBJECTIVE: To determine the effectiveness of medical audit as a means of improving the use of intravenous thrombolytics in patients with suspected acute myocardial infarction. DESIGN: Time-series analyses of observations in four study hospitals conducting repeated audits and feedback compared to a control hospital. SETTING: Five district general hospitals in North West Thames Region between April 1991 and July 1992. SUBJECTS: 2593 patients admitted as emergencies with a suspected acute myocardial infarction. MAIN OUTCOME MEASURES: Proportion of eligible cases receiving intravenous thrombolytic therapy observed in each audit and proportion of patients in whom this therapy was used appropriately. RESULTS: In the baseline audits, the proportions of eligible cases receiving thrombolytic therapy in the four study hospitals were 94%, 60%, 58% and 57%, and 53% in the control hospital. After three further audits in each study hospital over the subsequent year, the observed proportions had changed to 88% (to 6%), 92% (+32%), 95% (+37%), and 7796 (+20%). Meanwhile the proportion in the control hospital rose to 68% (+15%). The trend over time was significant in the second and third hospitals but not in the other two study hospitals or the control hospital. Reclassification of those cases in which the reliability of the diagnosis was poor altered the extent but not the direction of observed trends. Generally, the appropriateness of use of thrombolytic therapy increased with increasing treatment rates. There was a suggestion, however, that continued auditing in the presence of high treatment rates may have led to a reduction in appropriateness. CONCLUSIONS: medical audit can be an effective means of improving the use of intravenous thrombolytics. It is possible that over auditing may result in greater inappropriate use.

Algorithms↗
PubMed1996

Positron emission tomography in the detection and management of metastatic melanoma.

Initial reports suggest that positron emission tomography with [18F]fluorodeoxyglucose (FDG-PET) may offer greater diagnostic accuracy and versatility than conventional radiology in staging patients with metastatic melanoma. We reviewed the first 100 melanoma patients to have PET imaging at our institution. PET findings were correlated with all other available results, including plain X-ray, computed tomography (CT), magnetic resonance (MR) imaging, bone scintigraphy, clinical findings and histopathology. A total of 415 metastatic lesions were evaluated, 388 (93%) of which were detected by PET. In 20 patients, PET detected 24 metastases up to 6 months earlier than conventional imaging or physical examination. Selection of surgical or medical management was specifically influenced by PET findings in 22 patients, and PET was used to clarify another 12 cases where CT was inconclusive. In nine patients undergoing chemotherapy, PET was used to assess response to treatment. We conclude that FDG-PET can accurately detect metastatic melanoma with a single non-invasive scan, and can demonstrate some metastases months before conventional imaging techniques. PET can improve the selection of patients for surgery, has potential for monitoring response to treatment and may prove a cost-effective means of staging melanoma patients.

Adult↗