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Full-Text Articles in Medicine and Health Sciences
Candidate Gene/Loci Studies In Cleft Lip/Palate And Dental Anomalies Finds Novel Susceptibility Genes For Clefts, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Candidate Gene/Loci Studies In Cleft Lip/Palate And Dental Anomalies Finds Novel Susceptibility Genes For Clefts, A. Vieira, T. Mchenry, Sandra Daack-Hirsch, J. Murray, M. Marazita
Sandra Daack-Hirsch
PURPOSE: We revisited 42 families with two or more cleft-affected siblings who participated in previous studies. Complete dental information was collected to test the hypothesis that dental anomalies are part of the cleft phenotype spectrum, and can provide new opportunities for identification of cleft susceptibility genes. METHODS: Genotypes from 1489 single nucleotide polymorphism markers located in 150 candidate genes/loci were reanalyzed. Two sets of association analyses were carried out. First, we ran the analysis solely on the cleft status. Second, we assigned affection to any cleft or dental anomaly (tooth agenesis, supernumerary teeth, and microdontia) and repeated the analysis. RESULTS: …
A Genome-Wide Linkage Scan For Cleft Lip And Cleft Palate Identifies A Novel Locus On 8p11-23, B. Riley, R. Schultz, M. Cooper, T. Goldstein-Mchenry, Sandra Daack-Hirsch, K. Lee, E. Dragan, A. Vieira, A. Lidral, M. Marazita, J. Murray
A Genome-Wide Linkage Scan For Cleft Lip And Cleft Palate Identifies A Novel Locus On 8p11-23, B. Riley, R. Schultz, M. Cooper, T. Goldstein-Mchenry, Sandra Daack-Hirsch, K. Lee, E. Dragan, A. Vieira, A. Lidral, M. Marazita, J. Murray
Sandra Daack-Hirsch
Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which …
Characterization Of A Novel Gene Disrupted By A Balanced Chromosomal Translocation T(2;19)(Q11.2;Q13.3) In A Family With Cleft Lip And Palate, K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. Patil, L. Ashworth, J. Hecht, J. Murray
Characterization Of A Novel Gene Disrupted By A Balanced Chromosomal Translocation T(2;19)(Q11.2;Q13.3) In A Family With Cleft Lip And Palate, K. Yoshiura, J. Machida, Sandra Daack-Hirsch, S. Patil, L. Ashworth, J. Hecht, J. Murray
Sandra Daack-Hirsch
Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. Loci for nonsyndromic cases have been suggested on 2p13, 4q31, 6p24, 17q21-q24, and 19q13.2. Recently, we identified a family in which cleft lip and palate segregated in two of three generations with a balanced chromosomal translocation t(2;19)(q11. 2;q13.3). We used a positional-cloning strategy to identify a novel gene disrupted by the translocation on chromosome 19. Eight rare (q 0.01) …
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
X-Chromosome Inactivation Patterns In Monozygotic Twins And Sib Pairs Discordant For Nonsyndromic Cleft Lip And/Or Palate, J. Kimani, M. Shi, Sandra Daack-Hirsch, K. Christensen, D. Moretti-Ferreira, M. Marazita, L. Field, J. Canady, J. Murray
Sandra Daack-Hirsch
Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in …
A Unitary Field Pattern Portrait Of Dispiritedness In Later Life, Howard Butcher
A Unitary Field Pattern Portrait Of Dispiritedness In Later Life, Howard Butcher
Howard K. Butcher
The purpose of this investigation was to enhance theory and understanding of the phenomenon of dispiritedness in later life within the context of Rogers' Science of Unitary Human Beings using a research method congruent with the ontological and epistemological tenets of Rogers' nursing science. Eleven persons 52 to 92 years of age who identified themselves as being in later life and having experienced dispiritedness participated in a 40 to 70 minute in-depth interview which focused on their experiences, perceptions, and expressions of dispiritedness. A field pattern profile was created for each participant. The unitary field pattern portrait of dispiritedness in …
Pain Trajectory Following Spinal Fusion For Idiopathic Scoliosis, Charmaine Kleiber, L. Dolan, Mary Berg, A. Kleese, M. Suwanraj
Pain Trajectory Following Spinal Fusion For Idiopathic Scoliosis, Charmaine Kleiber, L. Dolan, Mary Berg, A. Kleese, M. Suwanraj
Mary Berg
No abstract provided.
Incidence Of Constipation And Abdominal Pain Following Spinal Fusion For Idiopathic Scoliosis, Mary Berg, Charmaine Kleiber
Incidence Of Constipation And Abdominal Pain Following Spinal Fusion For Idiopathic Scoliosis, Mary Berg, Charmaine Kleiber
Mary Berg
No abstract provided.
Caregiving By Teens For Family Members With Huntington Disease, Janet Williams, Lioness Ayres, Janet Specht, K. Sparbel, M. Klimek
Caregiving By Teens For Family Members With Huntington Disease, Janet Williams, Lioness Ayres, Janet Specht, K. Sparbel, M. Klimek
Lioness Ayres
The purpose of this report is to describe caregiving by teens for family members with Huntington disease (HD). Thirty-two teens in HD families in the United States and Canada participated in focus groups from 2002 to 2005 in a study to identify concerns and strategies to manage concerns. An unexpected finding was 24 (77%) described caregiving activities. Descriptive analysis of caregiving statements identified themes of Tasks and Responsibilities, Subjective Burden, Caregiving in Context of Personal Risk for HD, and Decisional Responsibility. Teens took an active part in nearly all aspects of care with the exception of contacting health care providers …
Explanations Of Risk In Families Without Identified Mutations For Hereditary Nonpolyposis Colorectal Cancer, Anne Ersig, Lioness Ayres, D. Hadley, L. Koehly
Explanations Of Risk In Families Without Identified Mutations For Hereditary Nonpolyposis Colorectal Cancer, Anne Ersig, Lioness Ayres, D. Hadley, L. Koehly
Lioness Ayres
Purpose: Genetic testing for hereditary forms of cancer does not always identify a causative mutation. Little is known about personal or family response to these indeterminate results when a hereditary form of cancer is suspected. This study explored thoughts about and responses to risk for hereditary nonpolyposis colorectal cancer (HNPCC) when a family member has received indeterminate genetic test results. Design: In this qualitative study, data were gathered from index cases who received indeterminate genetic test results through a longitudinal study offering genetic counseling and testing for HNPCC. First-degree relatives of these indeterminate index cases were also invited to participate …
Family Response To A Child's Chronic Illness: A Description Of Major Defining Themes, K. Knafl, A. Gallo, B. Breitmayer, L. Zoeller, Lioness Ayres
Family Response To A Child's Chronic Illness: A Description Of Major Defining Themes, K. Knafl, A. Gallo, B. Breitmayer, L. Zoeller, Lioness Ayres
Lioness Ayres
No abstract provided.
Qualitative Research Proposals -- Part I: Posing The Problem, Lioness Ayres
Qualitative Research Proposals -- Part I: Posing The Problem, Lioness Ayres
Lioness Ayres
No abstract provided.
Narratives Of Family Caregiving: Four Story Types, Lioness Ayres
Narratives Of Family Caregiving: Four Story Types, Lioness Ayres
Lioness Ayres
RESULTS/CONCLUSIONS: This study used a combination of across-case, thematic analysis and within-case, narrative analysis to develop a typology of stories for family caregivers. Both researchers and clinicians can benefit from interpretive methods that offer access s into the processes and products of making meaning though stories. It is often easier to see the possibilities for reinterpretation from outside a story than from within it. It may be that nurses will also be uniquely able to help clients who are in the process of "getting the story straight" to find new, more sustaining meanings and even to live more happily ever …
'I'M Like You': Establishing And Protecting A Common Ground In Focus Groups With Huntington Disease Caregivers... With Review By Spencer L, Janet Williams, Lioness Ayres, L. Spencer
'I'M Like You': Establishing And Protecting A Common Ground In Focus Groups With Huntington Disease Caregivers... With Review By Spencer L, Janet Williams, Lioness Ayres, L. Spencer
Lioness Ayres
Focus group research reflects content contributed by participants and the influence of interactions among participants. Analysis of interactions provides insights into focus group dynamics and the contextual meaning of focus group topics. The aim of this report is to analyse interactions that establish or protect a common ground in focus groups of family members caring for adults with Huntington disease (HD). HD tends to stigmatise persons with the disease, as well as their families. Thus, many of the topics in these groups were sensitive. Establishing a common ground was of paramount importance to group members. Participants used interactional processes that …
Defining And Managing Family Caregiving In Chronic Illness: Expectations, Explanations, And Strategies, Lioness Ayres
Defining And Managing Family Caregiving In Chronic Illness: Expectations, Explanations, And Strategies, Lioness Ayres
Lioness Ayres
Study findings identified the process by which caregivers made meaning out of their situations. This process was called the caregiving hermeneutic and consisted of the expectations, explanations, and strategies caregivers used in interpreting caregiving. The study also identified the kinds of meaning caregivers made out of their situations. The resulting four kinds of meaning were called metanarrative types. Metanarrative types consisted of stories of ideal lives, stories of ordinary lives, stories of compromised lives, and stories that were ambiguous. Caregivers who told compromised stories scored higher on measures of tension and depression and lower on measures of esteem for caregiving …
Learning From Stories: Parents' Accounts Of The Pathway To Diagnosis, K. Knafl, Lioness Ayres, A. Gallo, L. Zoeller, B. Brietmayer
Learning From Stories: Parents' Accounts Of The Pathway To Diagnosis, K. Knafl, Lioness Ayres, A. Gallo, L. Zoeller, B. Brietmayer
Lioness Ayres
Although the diagnosis of a child's chronic illness is typically a stressful time for parents, the events leading up to it vary considerably across families. As part of a larger study that addressed the experience of living with chronic illness, an analysis was undertaken to identify major themes in parental reports of the events preceding their child's diagnosis of chronic illness. Data are based on accounts given by parents in 63 families from three health science centers in the midwestern United States. Narrative analysis techniques were used to identify 5 major pathways to diagnosis (direct, delay, detour, quest, ordeal) and …
Narratives Of Family Caregiving: The Process Of Making Meaning, Lioness Ayres
Narratives Of Family Caregiving: The Process Of Making Meaning, Lioness Ayres
Lioness Ayres
RESULTS/CONCLUSIONS: Further research is clearly indicated to measure, rather than just describe, the components of caregivers' expectations, explanations, and strategies. Such research could identify explanations associated with flexible expectations and successful, good quality strategies, as well as provide clinicians with tools to predict those caregivers at risk for difficulty. Knowledge about caregivers could then be incorporated into interventions for caregivers at risk. Nursing interventions could help caregivers discover new expectations, explain their situations more positively, or find new strategies that both provide more satisfaction and are more consistent with good quality care. Nursing research has particular promise in illuminating this …