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H Hammond

Publications and source records attributed to H Hammond.

14 recordsLinked to original sources
PubMed2001

The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13.

Type 1 diabetes is a complex disorder with interaction of both genetic and environmental factors. One of the loci, IDDM4, has been mapped to chromosome 11q13, with evidence of association to two markers, D11S1917 and H0570polyA. To identify putative candidate genes for IDDM4, we have constructed a 400-kb clone contig in this region and sequenced the clones. We have also sequenced the orthologous DNA from mouse. Previously, we identified a cDNA for the low-density lipoprotein receptor-related protein 5 gene (LRP5) 3 kb distal to H0570polyA. We have now determined the exon-intron structure of this gene. Detailed sequence analysis has identified a further three genes in this region: the CGI-85 gene (previously identified by W.-C. Lin) and two novel genes, C11orf24 and C11orf23. The C11orf24 gene has no known similarity to other genes, and its function is unknown. C11orf23 has similarity to the SIT4 (sporulation-induced transcript 4)-associated protein (SAP) family of yeast proteins, which are involved in regulation of the cell cycle. The full-length C11orf23 cDNA is the first mammalian orthologue of the yeast SAP family to be identified. Identification of these four genes in a 400-kb region of the IDDM4 region underpins our strategy to identify the IDDM4 locus.

Amino Acid Sequence↗
PubMed2000

Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.

We present an 11-year-old female with bullous ichthyosiform erythroderma (BIE), learning disability, patent ductus arteriosus and mild stenosis of the aortic and pulmonary arteries. Chromosome analysis showed the expression of the rare folate-sensitive fragile site FRA12A at 12q13 in 8/20 (40%) of blood lymphocytes cultured in folate-deficient medium in the presence of trimethoprim. Her mother and maternal grandmother are phenotypically normal, but her mother shows expression of the same fragile site in 4/20 (20%) of cells cultured under the same conditions. Lymphocytes from the grandmother only showed expression of the fragile site when cultured in the presence of methotrexate in folate deficient medium. Interestingly, two genes (keratin 1 and keratin 2e) which are known to cause BIE map to 12q13. Molecular data is presented excluding three candidate (CCG)n repeats within keratin 1 gene. We present a review of previously reported FRA12A cases and discuss possible molecular explanations for the clinical findings in this patient.

Aortic Valve Stenosis↗
PubMed1998

Cloning of a novel member of the low-density lipoprotein receptor family.

A gene encoding a novel transmembrane protein was identified by DNA sequence analysis within the insulin-dependent diabetes mellitus (IDDM) locus IDDM4 on chromosome 11q13. Based on its chromosomal position, this gene is a candidate for conferring susceptibility to diabetes. The gene, termed low-density lipoprotein receptor related protein 5 (LRP5), encodes a protein of 1615 amino acids that contains conserved modules which are characteristic of the low-density lipoprotein (LDL) receptor family. These modules include a putative signal peptide for protein export, four epidermal growth factor (EGF) repeats with associated spacer domains, three LDL-receptor (LDLR) repeats, a single transmembrane spanning domain, and a cytoplasmic domain. The encoded protein has a unique organization of EGF and LDLR repeats; therefore, LRP5 likely represents a new category of the LDLR family. Both human and mouse LRP5 cDNAs have been isolated and the encoded mature proteins are 95% identical, indicating a high degree of evolutionary conservation.

Amino Acid Sequence↗
PubMed1982

Theory into hospital practice: a pilot implementation.

Implementing the Adaptation Model required that the model's concepts be explicitly identified, defined, and understood. Guidelines, standards and tools had to be revised or developed. Effective nursing administration leadership and the personal and professional commitment of administrators, educators, and staff nurses to the goal were necessary ingredients. The abstract nature of theory often requires sheer determination and hard thinking if it is to be effectively applied to practice. A formal education process must also be dynamic and ongoing. Project members continue to gain greater insight into the model's structure, identify problems in its application, and seek ways to solve them. Their combined, concentrated efforts have proved a cost-effective way to close gap between education and practice. The project's initial outcomes, increased patient satisfaction and expanded professional nursing, support the application of the Adaptation Model in our hospital. Further validation of its structure and the value of its outcomes, however, needs additional study, and extended application in multiple practice settings. Validation of the Roy Adaptation Model or any of the evolving conceptual frameworks for nursing practice requires use, input, and evaluation by nurses in all settings. Opening the theoretical domain to hospital nurses needs the support and leadership of nursing and hospital administrators.

Adaptation, Psychological↗
PubMed1972

Death from obstetrical hemorrhage.

Twelve hundred nineteen maternal deaths occurring from 1957 through 1966 in the State of California have been reviewed by the Maternal Mortality Committee of the California Medical Association and the Bureau of Maternal and Child Welfare of the State of California. In 56 of these deaths the underlying causes were due to disorders of placental separation and placental bed hemostasis. Each of these 56 cases has been analyzed. Profiles of characteristics of patients dying from placenta previa, placenta abruptio, and uterine atony are given. The expected causes of death due to delay in giving adequate amounts of blood and fibrinogen occurred in this series but the most striking results of this study were the findings of (1) a large number of cases of placenta acreta in patients with repeat cesarean sections and (2) the lack of manual exploration of the uterus in many patients dying from uterine atony.

Abruptio Placentae↗