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Selected AbstractsImpact of Human Genome Project on treatment of frail and edentulous patients,GERODONTOLOGY, Issue 1 2004Ichiro Nishimura Objective:, Because of ongoing increases in life expectancy and deferment of edentulousness to older age, dentists are facing a different challenge to satisfy elderly denture wearers with a higher prevalence of chronic diseases. This discussion introduces the Human Genome databases as novel and powerful resources to re-examine the core problems experienced by frail and edentulous patients. Background:, Recent studies demonstrated that mandibular implant overdentures do not necessarily increase masticatory function, perception and satisfaction in denture wearers with adequate edentulous residual ridges. It has been demonstrated that the rate of edentulous residual ridge resorption significantly varies among individuals. The prognosis and cost-effectiveness of denture treatment, with or without implants, may largely depend on how the edentulous ridge is maintained. However, reliable clinical methods permitting dentists to predict the long-term health of the edentulous residual ridge are lacking. Materials and methods:, With the completion of the Human Genome Project, the genomic sequence database from this multinational consortium will provide a unique resource to determine the genetic basis of similarity and diversity of humans. Results:, One base pair in every 100 to 300 base pairs of the genome sequence varies among humans, suggesting that genetic diagnosis using the single nucleotide polymorphisms (SNPs) may provide a novel opportunity to differentiate our edentulous patients. Conclusions:, Future dental service for the elderly will require a personalized care paradigm, using highly sensitive diagnostic technology such as SNP genomic analysis, for recommending the treatment with greatest potential benefit. [source] Age distributions, birth weights, nephrogenic rests, and heterogeneity in the pathogenesis of Wilms tumorPEDIATRIC BLOOD & CANCER, Issue 3 2006Norman E. Breslow PhD Abstract Background The National Wilms Tumor Study (NWTS) constitutes a unique resource for study of clinical, pathologic, and epidemiologic features of Wilms tumor (WT). Procedure Data from NWTS-3,4,5 were compiled for 7,455 patients with tumors of favorable (FH) or anaplastic (AH) histology. The associations of birth weight (BW) and age-at-onset with gender, intralobar (ILNR), and perilobar (PLNR) nephrogenic rests, tumor focality, congenital malformation syndromes, and tumor histology were analyzed using descriptive statistics and linear regression. Results Mean BWs for male and female patients without PLNR were 3.52 and 3.36 kg, respectively, and for those with PLNR were 0.12 kg and 0.15 kg heavier. Mean age was 45 months for males with no rests whose tumors were unifocal and of triphasic favorable histology. ILNR or multifocality decreased the mean age by 18 and 10 months, respectively, whereas female gender, blastemal/FH or AH increased it by 3, 10, and 16 months. Over 90% of multifocal tumors occurred in the presence of demonstrated ILNR or PLNR or both. The apparent bimodality of the age distributions and later mean ages-at-onset for females with both unifocal and multifocal tumors were explained in part by the relative deficit in females of ILNR versus PLNR-associated tumors. Conclusions These observations support the view that there are multiple pathways to Wilms tumorigenesis. They will facilitate selection of informative subgroups of patients for molecular analysis that may serve to identify the putative pathway for the majority of patients who cannot be classified provisionally on the basis of ILNR or PLNR. Pediatr Blood Cancer 2006;47:260,267. © 2006 Wiley-Liss, Inc. [source] Refinement of 2q and 7p loci in a large multiplex NTD family,BIRTH DEFECTS RESEARCH, Issue 6 2008Demetra S. Stamm Abstract BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs. Previous linkage analysis using a genome-wide SNP screen in family 8776 with multipoint nonparametric mapping methods identified maximum LOD* scores of ,3.0 mapping to 2q33.1,q35 and 7p21.1,pter. METHODS: We ascertained an additional nuclear branch of 8776 and conducted additional linkage analysis, fine mapping, and haplotyping. Expression data from lymphoblast cell lines were used to prioritize candidate genes within the minimum candidate intervals. Genomic copy number changes were evaluated using BAC tiling arrays and subtelomeric fluorescent in situ hybridization probes. RESULTS: Increased evidence for linkage was observed with LOD* scores of ,3.3 for both regions. Haplotype analyses narrowed the minimum candidate intervals to a 20.3 Mb region in 2q33.1,q35 between markers rs1050347 and D2S434, and an 8.3 Mb region in 7p21.1,21.3 between a novel marker 7M0547 and rs28177. Within these candidate regions, 16 genes were screened for mutations; however, no obvious causative NTD mutation was identified. Evaluation of chromosomal aberrations using comparative genomic hybridization arrays, subtelomeric fluorescent in situ hybridization, and copy number variant detection techniques within the 2q and 7p regions did not detect any chromosomal abnormalities. CONCLUSIONS: This large NTD family has identified two genomic regions that may harbor NTD susceptibility genes. Ascertainment of another branch of family 8776 and additional fine mapping permitted a 9.1 Mb reduction of the NTD candidate interval on chromosome 7 and 37.3 Mb on chromosome 2 from previously published data. Identification of one or more NTD susceptibility genes in this family could provide insight into genes that may affect other NTD families. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source] Strategic Alliance Success FactorsJOURNAL OF SUPPLY CHAIN MANAGEMENT, Issue 3 2000Judith M. Whipple SUMMARY There is recognition that competition is shifting from a "firm versus firm perspective" to a "supply chain versus supply chain perspective." In response to this shift, firms seeking competitive advantage are participating in cooperative supply chain arrangements, such as strategic alliances, which combine their individual strengths and unique resources. Buyer-supplier sourcing relationships are a primary focus of alliance improvement efforts. While interest in such arrangements remains strong, it is well accepted that creating, developing, and maintaining a successful alliance is a very daunting task. This research addresses several critical issues regarding that challenge. First, what factors contribute most to long-term alliance success? Second, what conditions define the presence of those success factors? Third, do buyers and suppliers in an alliance agree on those success factors and defining conditions? The research results demonstrate a remarkably consistent perspective among alliance partners regarding key success factors, despite the acknowledgment that the resultant success is based on a relatively even, but not equal, exchange of benefits and resources. Additionally, within an alliance's intended "win-win" foundation, suppliers must recognize their innate dependence on customers. Finally, significant opportunities for improvement exist with respect to alliance goal clarification, communication, and performance evaluation. [source] The patient as person in an increasingly gene-centric universe: How healthcare professionals should think about genomics and evolution,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2009Timothy P. Jackson Abstract In the past, the primary threat to the patient as person was a medical utilitarianism that would sacrifice the individual for the collective, that would coercively (ab)use a person for the sake of an in-group's health or happiness. Today, the threat is not only from vainglorious social groups but also from valorized genes and genomes. An over-valuation of genes risks making persons seem epiphenomenal. A central thesis of this article is that religious healthcare professionals have unique resources to combat this. © 2009 Wiley-Liss, Inc. [source] Early Child Grammars: Qualitative and Quantitative Analysis of Morphosyntactic ProductionCOGNITIVE SCIENCE - A MULTIDISCIPLINARY JOURNAL, Issue 5 2006Géraldine Legendre Abstract This article reports on a series of 5 analyses of spontaneous production of verbal inflection (tense and person,number agreement) by 2-year-olds acquiring French as a native language. A formal analysis of the qualitative and quantitative results is developed using the unique resources of Optimality Theory (OT; Prince & Smolensky, 2004). It is argued that acquisition of morphosyntax proceeds via overlapping grammars (rather than through abrupt changes), which OT formalizes in terms of partial rather than total constraint rankings. Initially, economy of structure constraints take priority over faithfulness constraints that demand faithful expression of a speaker's intent, resulting in child production of tense that is comparable in level to that of child-directed speech. Using the independent Predominant Length of Utterance measure of syntactic development proposed in Vainikka, Legendre, and Todorova (1999), production of agreement is shown first to lag behind tense then to compete with tense at an intermediate stage of development. As the child's development progresses, faithfulness constraints become more dominant, and the overall production of tense and agreement becomes adult-like. [source] |