Study of physicians' use of a software program to create a portfolio of their self-directed learning.
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Biomedical subjects
Publications and source records attributed to E Lindsay.
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A complementary DNA for the very-low-density lipoprotein receptor (VLDLR) that codes for a protein of 873 amino acids was cloned from a human heart cDNA library. The mature protein of 846 amino acids, preceded by a 27-residue signal peptide, shares 97% amino acid sequence identity with the rabbit VLDLR. Like the low-density lipoprotein receptor, the VLDLR contains five different domains, all of which are highly conserved between human and rabbit. A tetrapeptide NPVY that potentially serves as a signal for clustering of the VLDLR on coated pits is present in the cytoplasmic domain, which is 100% conserved between human and rabbit. We localized the VLDLR gene to chromosome 9p24 by fluorescence in situ hybridization using the cloned cDNA as hybridization probe. The high amino acid sequence homology of the VLDLR between two mammalian species suggests that the receptor plays a fundamental role in lipoprotein metabolism and that energy metabolism mediated by triglyceride utilization may be an evolutionarily highly conserved mechanism.
We have isolated and characterized a new alphoid probe, named p190.22. Its chromosomal location was investigated using fluorescence in situ hybridization. Under high stringency conditions p190.22 recognizes specifically the centromere of chromosome 22. A chromosome 22-specific alphoid subset has been previously reported in the literature (p22/1:2.1). The partial sequence and the genomic organization comparison strongly suggests that they recognize distinct subsets both specific for chromosome 22. The comparative mapping of probes p190.22 and p22/1:2.1 on chimpanzee (PTR and PPA) and gorilla (GGO) chromosomes was investigated. The two probes showed different hybridization results. p190.22, in particular, did not show any hybridization signal in these three species, suggesting a recent evolution.
Osteonecrosis is usually considered to be a minor and rare late sequelae of treatment for Hodgkin's Disease (HD). However, over ten years six patients out of a total of 53 patients treated for HD at the haematology department of a district general hospital developed osteonecrosis, an incidence of 11.3%. Routine isotope bone scanning of patients produced two further asymptomatic cases. These results suggest a higher incidence than previously suspected of a problem which caused our patients considerable morbidity. Further measures are required to identify and adequately treat a significant cause of late morbidity following chemotherapy for HD.
The velo-cardio-facial syndrome (VCFS) and DiGeorge sequence (DGS) have many similar phenotypic characteristics, suggesting that in some cases they share a common cause. DGS is known to be associated with monosomy for a region of chromosome 22q11, and DNA probes have been shown to detect these deletions even in patients with apparently normal chromosomes. Twelve patients with VCFS were examined and monosomy for a region of 22q11 was found in all patients. The DNA probes used in this study could not distinguish the VCFS locus and the DGS locus, indicating that the genes involved in these haploinsufficiencies are closely linked, and may be identical. The phenotypic variation of expression in VCFS and DGS may indicate that patients without the full spectrum of VCFS abnormalities but with some manifestations of the disorder may also have 22q11 deletions.
A wide spectrum of birth defects are caused by deletions of the DiGeorge syndrome critical region (DGCR) at human chromosome 22q11. Over one hundred such deletions have now been examined and a minimally deleted region of 300kb defined. Within these sequences we have identified a gene expressed during human and murine embryogenesis. The gene, named TUPLE1, and its murine homologue, encodes a protein containing repeated motifs similar to the WD40 domains found in the beta-transducin/enhancer of split (TLE) family. The TUPLE1 product has several features typical of transcriptional control proteins and in particular has homology with the yeast Tup1 transcriptional regulator. We propose that haploinsufficiency for TUPLE1 is at least partly responsible for DiGeorge syndrome and related abnormalities.
DiGeorge syndrome and velo-cardio-facial syndrome are associated with deletions within 22q11. In attempting to refine the shortest region of overlap for these syndromes we have employed fluorescence in situ hybridisation. The results obtained for some probes indicate the presence of low-copy-number repeat families dispersed through proximal 22q. Several primate species have been examined for the presence or absence of two sequences mapping to pter-22q11. The results suggest a relatively recent evolutionary origin for these sequences and the loss of one sequence during the course of primate evolution.
OBJECTIVE: To describe the prevalence and patterns of smoking among Canadian adults, the relation of smoking to other cardiovascular disease risk factors and the awareness of the causes of heart disease. DESIGN: Population-based cross-sectional surveys. SETTING: Nine Canadian provinces, from 1986 to 1990. PARTICIPANTS: A probability sample of 26,293 men and women aged 18 to 74 was selected from the health insurance registries in each province. Of these, 20,585 completed a questionnaire on smoking habits during a home interview. MAIN RESULTS: Approximately 29% of the Canadian population 18 years of age and over were regular cigarette smokers, and over 13% of regular smokers smoked more than 25 cigarettes per day. The proportion of women who had never smoked was higher (37%) than men (24%), except for young women aged 18 to 24. For all participants, there was a lower prevalence of high blood pressure and overweight among smokers than non-smokers. The prevalence of sedentary lifestyle, diabetes and elevated blood cholesterol was positively associated with smoking. The proportion of subjects who identified smoking as a cause of heart disease was higher among smokers, and over 90% believe that heart disease is preventable. CONCLUSION: Because smoking is positively associated with other cardiovascular risk factors, multifactorial and comprehensive approaches are needed in the implementation of cardiovascular disease prevention programs. Knowledge regarding the heart health hazards of smoking is high even among smokers. Motivational approaches that go beyond health risk messages are needed in cessation programs.
The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage of genes within this region. We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.
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Forty-three patients--recipients of a highly structured, physician-delivered smoking cessation intervention--were interviewed using ethnographic (anthropological) research methods. We conducted interviews with patients after visits with the physician, then audiotaped and transcribed them. Discourse analysis of interview texts identified features and components of the physician maneuver most effective from the patients' point of view. Patients discussed two general areas of physicians' preventive activities: an interventionistic component (in which professional, diagnostic, and authoritative features were emphasized) and a personalistic component (in which physicians were experienced as equals, supportive, caring, empowering, and challenging). From the perspective of patients, the personalistic component of the physician-delivered smoking cessation maneuver appeared most effective. We conclude that, in clinical preventive medicine generally, patients (1) evaluate the kind of support they receive from their physician (e.g., degree of empathy, encouragement, and sincerity), (2) respond favorably to positive imagery in the challenge to alter their lifestyle, (3) look for a balance in the relationship established with their physician (negotiation, respect, mutual understanding, and rapport), and (4) remember the consistency and regularity of their physician's health promotion messages.