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Biomedical subjects

E Gardner

Publications and source records attributed to E Gardner.

At least 73 records · Page 4Linked to original sources
PubMed1993

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2.

Multiple endocrine neoplasia type 2 (MEN 2) is a familial cancer syndrome arising from mutation at a locus or loci in chromosome region 10p11.2-q11.2. The disease is characterized by medullary thyroid carcinoma (MTC) and pheochromocytoma (Pheo). To assess the genetic events in tumour initiation and progression in this disease, we have compiled an allelotype for MTC and Pheo tumours using polymorphic marker loci from each chromosome arm. Using a panel of 58 tumours, we found frequent allele losses on chromosome arms 1p (42%), 3p (30%), 3q (38%), 11p (11%), 13q (10%), 17p (8%), and 22q (29%). Loss of heterozygosity (LOH) for loci on chromosome 10 was detected in a single tumour where one whole chromosome copy was lost. We used a panel of polymorphic markers for each of chromosomes 1, 3, 11, and 17 to define a shortest region of overlap for these regions. The most frequent allele losses were on chromosome 1, spanning the entire short arm of the chromosome but not loci on 1q. LOH on chromosome 3 encompassed a minimal common region of 3q12-qter. The regions of allelic deletion on chromosome 11 (11pter-p13), 17 (17pter-p11.2), and 13 (13q) encompass known tumour suppressor loci (WTI, TP53, RBI) which must therefore be candidates for genes contributing to MTC and Pheo development. Our data suggest allele loss on chromosome 11, 13, or 17 occurs predominantly in tumours with losses on chromosome 3, potentially reflecting the accumulation of genetic change in tumour progression. These events may be associated with more advanced disease in MTC. We suggest that at least 7 genes contribute to tumour development in MEN 2, including an initiating locus on chromosome 10 and loci on chromosomes 1, 3, 11, 13, 17, and 22 which have a progressional role in these tumours.

Adrenal Gland Neoplasms↗
PubMed1993

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.

We have carried out genetic linkage analyses using fifteen polymorphic loci in the pericentromeric region of chromosome 10 in families with the inherited cancer syndromes multiple endocrine neoplasia (MEN) type 2A or 2B. A highly polymorphic microsatellite from the locus D10S141 in q11.2 was found to be recombinant with respect to the disease locus in two individuals and defines a new proximal flanking marker for both MEN2A and 2B. An additional recombination provides evidence that the locus D10S94, also in q11.2, is the closet distal flanking marker for MEN2A. This localises the MEN2A gene to a small region of 10q11.2 flanked by the loci D10S141 and D10S94, which are separated by a sex-averaged genetic distance of 0.55 cM. The MEN2B gene maps to a larger region, flanked by D10S141 and RBP3.

Chromosome Mapping↗
PubMed1993

Achieving empowerment through information.

Despite the problems we encountered, which are not uncommon with the development and implementation of any data system, we are confident that our success in achieving our goals is due to the following: establishing a reliable information database connecting several related departments; interfacing with registration and billing systems to avoid duplication of data and chance for error; appointing a qualified Systems Manager devoted to the project; developing superusers to include intensive training in the operating system (UNIX), parameters of the information system, and the report writer. We achieved what we set out to accomplish: the development of a reliable database and reports on which to base a variety of hospital decisions; improved hospital utilization; reliable clinical data for reimbursement, quality management, and credentialing; enhanced communication and collaboration among departments; and an increased profile of the departments and staff. Data quality specialists, Utilization Management and Quality Management coordinators, and the Medical Staff Credentialing Supervisor and their managers are relied upon by physicians and administrators to provide timely information. The staff are recognized for their knowledge and expertise in their department-specific information. The most significant reward is the potential for innovation. Users are no longer restricted to narrow information corridors. UNIX programming encourages creativity without demanding a degree in computer science. The capability to reach and use diverse hospital database information is no longer a dream.

Academic Medical Centers↗
PubMed1993

Structural analysis of the human ret proto-oncogene using exon trapping.

A genomic contig of the human ret protooncogene was created with four overlapping cosmid clones isolated from two libraries. After southern analysis with portions of the ret cDNA, eight cosmid fragments were analysed in detail for the presence of ret exons using exon trapping. PCR products corresponding to spliced exons were isolated and subcloned. Exon boundaries were delineated by comparison of the PCR product sequence and the published ret cDNA sequence. The exons were initially positioned on a genomic map defined by BamHI, EcoRI and HindIII restriction sites. The positions of the exons were then refined by amplifying genomic DNA using primer pairs derived from one or more exons along the ret gene, the length of the PCR product indicating the approximate genomic distance between the exon sequences. The ret proto-oncogene is composed of at least 20 exons, ranging in size from 60 bp to 287 bp, distributed along 30 kb of genomic DNA. The extracellular domain is encoded by 10 exons and the cytoplasmic domain by 9 exons. The transmembrane domain is encoded by a single exon.

Base Sequence↗
PubMed1992

Study amends lore about CABG volume, cost.

Contrary to a key legend of the healthcare quality movement, the best care doesn't always cost less. And while high volume often does lead to higher quality, low volume doesn't necessarily preclude it. Those are among the findings from a study of Medicare data on coronary artery bypass graft surgeries. Researchers found some common denominators among hospitals that consistently achieved superior outcomes in the procedures.

Cardiology Service, Hospital↗