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Sample records for hla sibling identical

  1. Current outcome of HLA identical sibling versus unrelated donor transplants in severe aplastic anemia

    DEFF Research Database (Denmark)

    Bacigalupo, Andrea; Socié, Gerard; Hamladji, Rose Marie

    2015-01-01

    We have analyzed 1448 patients with acquired aplastic anemia grafted between 2005 and 2009, and compared outcome of identical sibling (n=940) versus unrelated donor (n=508) transplants. When compared to the latter, sibling transplants were less likely to be performed beyond 180 days from diagnosis.......04). In conclusion, in multivariate analysis, the outcome of unrelated donor transplants for acquired aplastic anemia, is currently not statistically inferior when compared to sibling transplants, although patients are at greater risk of acute and chronic graft-versus-host disease. The use of peripheral blood grafts...

  2. Improved survival of acute lymphoblastic leukemia patients of HLA-A3/11 absent for donor KIR3DL2 after non-T-cell depleted HLA-identical sibling hematopoietic stem cells transplantation

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    farhad shahsavar

    2011-08-01

    Conclusion: These data indicate that the absence of HLA class I ligand in the recipient for donor-inhibitory KIR can be a prognostic factor for transplantation outcomes in non-T-cell depleted HLA-identical sibling hematopoietic stem-cell transplantation and that the lack of HLA-A3/11 for donor KIR3DL2 can contribute to improved survival for patients with ALL.

  3. The impact of chronic GVHD on survival of Patients with acute myeloid leukemia after non-T-cell depleted HLA-identical sibling peripheral blood stem cells transplantation

    Directory of Open Access Journals (Sweden)

    farhad Shahsavar

    2012-06-01

    Conclusion: These data indicate that the occurrence of cGVHD is an important predictor of outcome of non-T-cell depleted HLA-identical sibling allogeneic PBSCT, in those AML patients who develope cGVHD have a high chance of survival.

  4. Comparison of outcomes in hematological malignancies treated with haploidentical or HLA-identical sibling hematopoietic stem cell transplantation following myeloablative conditioning: A meta-analysis

    Science.gov (United States)

    Guo, Dan; Xu, Peipei; Chen, Bing

    2018-01-01

    Purpose Haploidentical and human leukocyte antigen (HLA)-identical sibling hematopoietic stem transplantation are two main ways used in allogeneic hematopoietic stem cell transplantation (allo-HSCT). In recent years, remarkable progress has been made in haploidentical allo-HSCT (HID-SCT), and some institutions found HID-SCT had similar outcomes as HLA-identical sibling allo-HSCT (ISD-SCT). To clarify if HID-SCT has equal effects to ISD-SCT in hematologic malignancies, we performed this meta-analysis. Methods Relevant articles published prior to February 2017 were searched on PubMed. Two reviewers assessed the quality of the included studies and extracted data independently. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated for statistical analysis. Results Seven studies including 1919 patients were included. The rate of platelet engraftment is significantly lower after HID-SCT versus ISD-SCT while there is no difference in neutrophil engraftment (OR = 2.58, 95% CI = 1.70–3.93, P SCT versus ISD-SCT (OR = 1.88, 95% CI = 1.42–2.49, P SCT group (OR = 0.70, 95% CI = 0.55–0.90, P = 0.005). The incidence rates of overall survival (OS) and disease-free-survival/leukemia-free survival/relapse-free survival (DFS/LFS/RFS) after ISD-SCT are all significantly superior to HID-SCT (OR = 1.32, 95% CI = 1.08–1.62, P = 0.006; OR = 1.25, 95% CI = 1.03–1.52, P = 0.02). There is no significant difference in transplantation related mortality (TRM) rate after HID-SCT and ISD-SCT. Conclusion After myeloablative conditioning, patients receiving ISD-SCT have a faster engraftment, lower acute GVHD and longer life expectancy compared to HID-SCT with GVHD prophylaxis (cyclosporine A, methotrexate, mycophenolate mofetil and antithymoglobulin; CsA + MTX + MMF + ATG). Currently, HID-SCT with GVHD prophylaxis (CsA + MTX + MMF + ATG) may not replace ISD-SCT when HLA-identical sibling donor available. PMID:29381772

  5. The role of missing killer cell immunoglobulin-like receptor ligands in T cell replete peripheral blood stem cell transplantation from HLA-identical siblings.

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    Clausen, Johannes; Kircher, Brigitte; Auberger, Jutta; Schumacher, Petra; Ulmer, Hanno; Hetzenauer, Gabriele; Wolf, Dominik; Gastl, Günther; Nachbaur, David

    2010-02-01

    The contribution of natural killer (NK) cells to graft-versus-malignancy (GVM) effects following hematopoietic stem cell transplantation (HSCT) remains uncertain, particularly in the HLA-identical setting. A model considering missing HLA ligands to the donor's inhibitory killer cell immunoglobulin-like receptor (KIR), termed the missing KIR ligand model, has been established in T cell depleted bone marrow transplantation (BMT), but lacks validity in other cohorts with different treatment characteristics. We hypothesized that the impact of missing KIR ligands on relapse-free survival (RFS) and overall survival (OS) in T cell replete peripheral blood SCT (PBSCT) differs from that in the T cell depleted BMT setting, and retrospectively evaluated 100 consecutive, HLA-identical sibling transplantations for hematologic malignancies. In addition to KIR ligand status, we considered the donors' activating KIRs and grafted NK, T, and CD34(+) cell doses. Our findings demonstrate noninferiority for OS (P = .005) and RFS (P = .002) for the heterozygous HLA-C group KIR ligand status (C1/2; n = 47) compared with patients missing either C1 or C2 (n = 53). Similarly, OS (P = .031) and RFS (P = .034) of Bw4-positive patients was noninferior to that of patients missing a Bw4 ligand to KIR3DL1. By multivariate analysis, C1/2 heterozygous patients had a favorable risk ratio (RR) for relapse (RR = 0.28; P = .003), RFS (RR = 0.56; P = .046), and acute graft-versus-host disease grade II-IV (RR = 0.36; P = .05). Following reduced-intensity conditioning (RIC), but not standard-intensity conditioning, myeloablative (MA) transplantation, a grafted NK cell dose above the median (3.4 x 10(7)/kg) was associated with a lower risk of relapse (RR = 0.57; P = .003) and improved survival (RR = 0.78; P = .03). Overall, our findings support a role for NK alloreactivity in HLA-identical HSCT, but argue against a favorable impact of missing KIR ligands in the given setting. We conclude that the mechanism

  6. Mobilized peripheral blood stem cells compared with bone marrow from HLA-identical siblings for reduced-intensity conditioning transplantation in acute myeloid leukemia in complete remission

    DEFF Research Database (Denmark)

    Nagler, Arnon; Labopin, Myriam; Shimoni, Avichai

    2012-01-01

    Reduced-intensity conditioning (RIC)-alloSCT is increasingly used for acute myelogenous leukemia. Limited data are available for the comparison of peripheral blood stem cells with bone marrow for RIC-alloSCT. We used the European Group for Blood and Marrow Transplantation (EBMT) ALWP data...... to compare the outcome of mobilized peripheral blood stem cells (PBSC) (n = 1430) vs. bone marrow (BM) (n = 107) for acute myelogenous leukemia (AML) patients with complete remission that underwent RIC-alloSCT from compatible sibling donors. The leukemia features, the disease status, and the time from...

  7. Early onset of diabetes in the proband is the major determinant of risk in HLA DR3-DQ2/DR4-DQ8 siblings.

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    Gillespie, Kathleen M; Aitken, Rachel J; Wilson, Isabel; Williams, Alistair J K; Bingley, Polly J

    2014-03-01

    Islet autoimmunity is initiated in infancy, and primary prevention trials require children at high genetic risk to be identified before autoantibodies appear. To inform screening strategies, we evaluated risks of autoimmunity and diabetes associated with HLA DR3-DQ2/DR4-DQ8 in U.K. families. Extended HLA haplotypes were determined in 2,134 siblings from the Bart's-Oxford Study followed to a median age of 22 years. Risks of diabetes and islet autoimmunity (more than two antibodies) were estimated by survival analysis. Of 138 informative DR3-DQ2/DR4-DQ8 siblings, 63% shared both haplotypes with their diabetic proband, 29% shared one, and 8% shared neither. In HLA-identical DR3-DQ2/DR4-DQ8 siblings, the cumulative risk of diabetes by age 15 was 17% (vs. 6% in those sharing one haplotype or none; P = 0.095). Risk varied, however, with the age at the onset of diabetes in the proband; the cumulative risk of autoimmunity and/or diabetes by age 15 was 61% in siblings of probands diagnosed when younger than 10 years old compared with only 4.7% in those diagnosed after age 10 years (P sibling risk. This suggests that non-HLA genes or epigenetic/environmental factors that accelerate the progression of type 1 diabetes in the proband strongly affect risk in siblings.

  8. Preceding immunosuppressive therapy with antithymocyte globulin and ciclosporin increases the incidence of graft rejection in children with aplastic anaemia who underwent allogeneic bone marrow transplantation from HLA-identical siblings.

    Science.gov (United States)

    Kobayashi, Ryoji; Yabe, Hiromasa; Hara, Junichi; Morimoto, Akira; Tsuchida, Masahiro; Mugishima, Hideo; Ohara, Akira; Tsukimoto, Ichiro; Kato, Koji; Kigasawa, Hisato; Tabuchi, Ken; Nakahata, Tatsutoshi; Ohga, Shoichi; Kojima, Seiji

    2006-12-01

    The incidence of graft rejection was determined in 66 children with acquired aplastic anaemia (AA) following bone marrow transplantation (BMT) from a related donor. Eleven of 65 evaluable patients experienced either early or late rejection. Multivariate analysis identified previous immunosuppressive therapy with antithymocyte-globulin (ATG) and ciclosporin (CsA) as a risk factor for graft rejection (relative risk: 16.6, P = 0.001). Patients who received ATG and CsA had a significantly lower probability of failure-free survival than those who did not (69.7 +/- 6.2% vs. 87.9 +/- 8.0%, P = 0.044). These results suggest that BMT should be instituted immediately in children with severe AA who have human leucocyte antigen-identical siblings.

  9. [Favorable current prognosis after HLA-identical bone marrow transplantation for children with required severe aplastic anemia; evaluation of 30 years of bone marrow transplantation at the Leiden University Medical Center

    NARCIS (Netherlands)

    Steekelenburg, M. van; Weel-Sipman, M.H. van; Zwinderman, A.H.; Hoogerbrugge, P.M.; Vossen, J.M.J.J.; Egeler, R.M.

    2002-01-01

    OBJECTIVE: To evaluate the results of 30 years of allogeneic HLA-identical bone marrow transplantation (BMT) as the treatment for children with acquired severe aplastic anaemia. DESIGN: Retrospective, descriptive. METHOD: Of all patients who underwent an HLA-identical sibling-donor BMT for severe

  10. The role of siblings in identity development in adolescence and emerging adulthood.

    Science.gov (United States)

    Wong, Thessa M L; Branje, Susan J T; VanderValk, Inge E; Hawk, Skyler T; Meeus, Wim H J

    2010-10-01

    This study examined the role of siblings on identity formation in adolescence and emerging adulthood, using a three-wave longitudinal design. Measures of identity formation were filled out by 498 sibling dyads. Sibling effects differed as a function of age and gender configuration within the dyads. Controlled for age, earlier-born siblings reported the most advanced levels of identity formation, and later-born siblings the lowest. Positive relations between siblings' identity and changes in identity of respondents provided support for modeling processes between siblings. The identity of earlier-born same-sex siblings, in particular, tends to be important in influencing identity formation. Contrary to the expectations, differentiation processes between siblings did not appear to influence identity formation. It is apparent from this study that both the gender and birth order of siblings affect whether their own identity formation processes influence those of adolescents and emerging adults.

  11. Improving the estimation of celiac disease sibling risk by non-HLA genes.

    Directory of Open Access Journals (Sweden)

    Valentina Izzo

    Full Text Available Celiac Disease (CD is a polygenic trait, and HLA genes explain less than half of the genetic variation. Through large GWAs more than 40 associated non-HLA genes were identified, but they give a small contribution to the heritability of the disease. The aim of this study is to improve the estimate of the CD risk in siblings, by adding to HLA a small set of non-HLA genes. One-hundred fifty-seven Italian families with a confirmed CD case and at least one other sib and both parents were recruited. Among 249 sibs, 29 developed CD in a 6 year follow-up period. All individuals were typed for HLA and 10 SNPs in non-HLA genes: CCR1/CCR3 (rs6441961, IL12A/SCHIP1 and IL12A (rs17810546 and rs9811792, TAGAP (rs1738074, RGS1 (rs2816316, LPP (rs1464510, OLIG3 (rs2327832, REL (rs842647, IL2/IL21 (rs6822844, SH2B3 (rs3184504. Three associated SNPs (in LPP, REL, and RGS1 genes were identified through the Transmission Disequilibrium Test and a Bayesian approach was used to assign a score (BS to each detected HLA+SNPs genotype combination. We then classified CD sibs as at low or at high risk if their BS was respectively < or ≥ median BS value within each HLA risk group. A larger number (72% of CD sibs showed a BS ≥ the median value and had a more than two fold higher OR than CD sibs with a BS value < the median (O.R = 2.53, p = 0.047. Our HLA+SNPs genotype classification, showed both a higher predictive negative value (95% vs 91% and diagnostic sensitivity (79% vs 45% than the HLA only. In conclusion, the estimate of the CD risk by HLA+SNPs approach, even if not applicable to prevention, could be a precious tool to improve the prediction of the disease in a cohort of first degree relatives, particularly in the low HLA risk groups.

  12. Sibling recognition and the development of identity: intersubjective consequences of sibling differentiation in the sister relationship.

    Science.gov (United States)

    Vivona, Jeanine M

    2013-01-01

    Identity is, among other things, a means to adapt to the others around whom one must fit. Psychoanalytic theory has highlighted ways in which the child fits in by emulating important others, especially through identification. Alternately, the child may fit into the family and around important others through differentiation, an unconscious process that involves developing or accentuating qualities and desires in oneself that are expressly different from the perceived qualities of another person and simultaneously suppressing qualities and desires that are perceived as similar. With two clinical vignettes centered on the sister relationship, the author demonstrates that recognition of identity differences that result from sibling differentiation carries special significance in the sibling relationship and simultaneously poses particular intersubjective challenges. To the extent that the spotlight of sibling recognition delimits the lateral space one may occupy, repeatedly frustrated desires for sibling recognition may have enduring consequences for one's sense of self-worth and expectations of relationships with peers and partners.

  13. Intra HLA-D/DR region recombinant detected by primed lymphocyte typing (PLT)

    DEFF Research Database (Denmark)

    Jakobsen, B K; Kristensen, T; Lamm, L U

    1983-01-01

    The chromosome 6 markers, HLA-ABC, D, DR, MT, properdin factor Bf, and complement factors 2 (C2) and 5 (C4), were studied in three families, each of which included two HLA identical siblings, one or both of whom were known to be HLA-B: GLO recombinants. The families were also typed with primed...... lymphocyte typing (PLT) for HLA-D/DR region associated DP antigens. None of these studies gave evidence that the recombinations had occurred within the HLA region. Mixed leucocyte culture (MLC) tests within the families showed no detectable stimulation between the HLA identical siblings in two...

  14. GVHD after HLA-matched sibling BMT or PBSCT: Comparison of North American Caucasian and Japanese Populations

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    Kanda, Junya; Brazauskas, Ruta; Hu, Zhen-Huan; Kuwatsuka, Yachiyo; Nagafuji, Koji; Kanamori, Heiwa; Kanda, Yoshinobu; Miyamura, Koichi; Murata, Makoto; Fukuda, Takahiro; Sakamaki, Hisashi; Kimura, Fumihiko; Seo, Sachiko; Aljurf, Mahmoud; Yoshimi, Ayami; Milone, Giuseppe; Wood, William A; Ustun, Celalettin; Hashimi, Shahrukh; Pasquini, Marcelo; Bonfim, Carmem; Dalal, Jignesh; Hahn, Theresa; Atsuta, Yoshiko; Saber, Wael

    2016-01-01

    The risk of acute graft-versus-host disease (GVHD) after HLA-matched sibling bone marrow (BM) transplantation is lower in Japanese than in Caucasian patients. However, race may have differential effect on GVHD dependent on the graft source. North American Caucasian and Japanese patients receiving their first allogeneic BM or peripheral blood stem cell (PBSC) transplantations from an HLA-matched sibling for leukemia were eligible. BM was used in 13% and 53% of Caucasian and Japanese patients, respectively. In multivariate analysis, the interaction term between race and graft source was not significant in any of the models, indicating that graft source does not affect the impact of race on outcomes. The risk of grades III–IV acute GVHD was significantly lower in Japanese than in Caucasian patients (hazard ratio (HR) 0.74, 95% confidence interval (CI) 0.57–0.96), which resulted in lower risk of non-relapse mortality in Japanese patients (HR 0.69, 95% CI 0.54–0.89). The risk of relapse was also lower in this group. Lower risk of non-relapse mortality and relapse resulted in lower overall mortality rates among Japanese patients. In conclusion, irrespective of graft source, the risk of severe acute GVHD is lower in Japanese patients, which results in lower risk of non-relapse mortality. PMID:26762681

  15. Intra HLA-D/DR region recombinant detected by primed lymphocyte typing (PLT)

    DEFF Research Database (Denmark)

    Jakobsen, B K; Kristensen, T; Lamm, L U

    1983-01-01

    lymphocyte typing (PLT) for HLA-D/DR region associated DP antigens. None of these studies gave evidence that the recombinations had occurred within the HLA region. Mixed leucocyte culture (MLC) tests within the families showed no detectable stimulation between the HLA identical siblings in two......The chromosome 6 markers, HLA-ABC, D, DR, MT, properdin factor Bf, and complement factors 2 (C2) and 5 (C4), were studied in three families, each of which included two HLA identical siblings, one or both of whom were known to be HLA-B: GLO recombinants. The families were also typed with primed...... to reactive reagents. One of these (GHx), reacted with a determinant which segregated within the GG family as if child G was a paternal recombinant between the HLA-D, DR, DP, and C4 loci, on the one hand, and on the other hand one or more loci governing other HLA-D/DR region controlled lymphocyte activating...

  16. Impact of cyclophosphamide dose of conditioning on the outcome of allogeneic hematopoietic stem cell transplantation for aplastic anemia from human leukocyte antigen-identical sibling.

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    Mori, Takehiko; Koh, Hideo; Onishi, Yasushi; Kako, Shinichi; Onizuka, Makoto; Kanamori, Heiwa; Ozawa, Yukiyasu; Kato, Chiaki; Iida, Hiroatsu; Suzuki, Ritsuro; Ichinohe, Tatsuo; Kanda, Yoshinobu; Maeda, Tetsuo; Nakao, Shinji; Yamazaki, Hirohito

    2016-04-01

    The standard conditioning regimen in allogeneic hematopoietic stem cell transplantation (HSCT) for aplastic anemia from a human leukocyte antigen (HLA)-identical sibling has been high-dose cyclophosphamide (CY 200 mg/kg). In the present study, results for 203 patients with aplastic anemia aged 16 years or older who underwent allogeneic HSCT from HLA-identical siblings were retrospectively analyzed using the registry database of Japan Society for Hematopoietic Cell Transplantation. Conditioning regimens were defined as a (1) high-dose CY (200 mg/kg or greater)-based (n = 117); (2) reduced-dose CY (100 mg/kg or greater, but less than 200 mg/kg)-based (n = 38); and (3) low-dose CY (less than 100 mg/kg)-based (n = 48) regimen. Patient age and the proportion of patients receiving fludarabine were significantly higher in the reduced- and low-dose CY groups than the high-dose CY group. Engraftment was comparable among the groups. Five-year overall survival (OS) tended to be higher in the low-dose CY group [93.0 % (95 % CI 85.1-100.0 %)] than the high-dose CY [84.2 % (95 % CI 77.1-91.3 %)] or reduced-dose CY groups [83.8 % (95 % CI 71.8-95.8 %); P = 0.214]. Age-adjusted OS was higher in the low-dose CY group than the high- and reduced-dose CY groups with borderline significance (P = 0.067). These results suggest that CY dose can safely be reduced without increasing graft rejection by adding fludarabine in allogeneic HSCT for aplastic anemia from an HLA-identical sibling.

  17. Sibling differentiation, identity development, and the lateral dimension of psychic life.

    Science.gov (United States)

    Vivona, Jeanine M

    2007-01-01

    The lateral dimension of psychic life, lived through relationships with siblings and their substitutes, is structured around a distinct psychic challenge: to find one's unique place in a world of similar others. Like the challenge that structures the vertical parent-child dimension, the lateral challenge is fraught with conflict and ambivalence; its resolution imbues psychic structure. That resolution may be accomplished through a process of differentiation, an active and unconscious process of identity development by which a child amplifies differences with siblings and minimizes similarities. Differentiation from siblings serves to mitigate interpersonal rivalry with them and to ease internal conflict associated with the lateral dimension. Three clinical examples are offered to illustrate the operation of sibling differentiation and its costs, particularly in terms of constricted identity and attenuated relationships with siblings and peers. Differentiation as a process of becoming what the other is not has been eclipsed by identification in psychoanalytic theories of identity development. Yet differentiation is a common strategy for resolving the primary rivalries and conflicts of the lateral dimension, and has unique developmental and clinical implications.

  18. Sequential studies of cell inhibition of host fibroblasts in 51 patients given HLA-identical marrow grafts

    International Nuclear Information System (INIS)

    Tsoi, M.-S.; Storb, R.; Weiden, P.; Santos, E.; Kopecky, K.J.; Thomas, E.D.

    1982-01-01

    Thirty-four patients with leukemia, two with lymphoma and 15 with aplastic anemia, were studied sequentially between 33 and 666 days after treatment with high-dose cyclophosphamide and/or total body irradiation and marrow transplantation from HLA-identical siblings. Peripheral blood mononuclear cells from patients and normals were tested for cell inhibition (CI) of cultured skin fibroblasts from patients and donors or unrelated individuals using the microcytotoxicity assay. In addition, blocking of Cl by factors in patient serum was studied. Twenty patients were tested three or more times during the first year, 15 patients were studied twice and 16 patients once. Results showed that during the first 2 mo postgrafting, mononuclear cells from 45% of the patients had neither Cl nor blocking activities, 50% had Cl and serum blocking, and 5% had Cl without blocking. As time after transplatation elapsed, the percentage of patients without Cl gradually increased, whereas the percentage of patients with Cl with or without blocking decreased. At the end of 1 yr, 89% of the patients showed neither Cl nor blocking compared with 11% who showed Cl and blocking. This trend was significant (p < 0.005). The results were in agreement with our previus conclusion that serum-blocking factors were not important in the maintenance of the stable chimeric state. Early after grafting, there was a suggestive correlation (p < 0.08) between the in vitro finding of Cl of host fibroblasts by chimeric cells and the in vivo finding of acute graft-vs-host disease. However, there was no evidence that presence or absence of serum-blocking factors early after grafting was correlated with presence or absence of graft-vs-host disease

  19. Combined cord blood and bone marrow transplantation from the same human leucocyte antigen-identical sibling donor for children with malignant and non-malignant diseases.

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    Tucunduva, Luciana; Volt, Fernanda; Cunha, Renato; Locatelli, Franco; Zecca, Marco; Yesilipek, Akif; Caniglia, Maurizio; Güngör, Tayfun; Aksoylar, Serap; Fagioli, Franca; Bertrand, Yves; Addari, Maria Carmen; de la Fuente, Josu; Winiarski, Jacek; Biondi, Andrea; Sengeloev, Henrik; Badell, Isabel; Mellgren, Karin; de Heredia, Cristina Díaz; Sedlacek, Petr; Vora, Ajay; Rocha, Vanderson; Ruggeri, Annalisa; Gluckman, Eliane

    2015-04-01

    Umbilical cord blood (UCB) from an human leucocyte antigen (HLA)-identical sibling can be used for transplantation of patients with malignant and non-malignant diseases. However, the low cellular content of most UCB units represents a limitation to this approach. An option to increase cell dose is to harvest bone marrow (BM) cells from the same donor and infuse them along with the UCB. We studied 156 children who received such a combined graft between 1992 and 2011. Median age was 7 years and 78% of patients (n = 122) were transplanted for non-malignant diseases, mainly haemoglobinopathies. Acute leukaemia (n = 26) was the most frequent malignant diagnosis. Most patients (91%) received myeloablative conditioning. Median donor age was 1·7 years, median infused nucleated cell dose was 24·4 × 10(7) /kg and median follow-up was 41 months. Sixty-days neutrophil recovery occurred in 96% of patients at a median of 17 d. The probabilities of grade-II-IV acute and chronic graft-versus-host disease (GVHD) were 19% and 10%, respectively. Four-year overall survival was 90% (68% malignant; 97% non-malignant diseases) with 3% probability of death. In conclusion, combined UCB and BM transplantation from an HLA-identical sibling donor is an effective treatment for children with malignant and non-malignant disorders with high overall survival and low incidence of GVHD. © 2014 John Wiley & Sons Ltd.

  20. Nonmyeloablative HLA-matched sibling allogeneic hematopoietic stem cell transplantation for severe sickle cell phenotype.

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    Hsieh, Matthew M; Fitzhugh, Courtney D; Weitzel, R Patrick; Link, Mary E; Coles, Wynona A; Zhao, Xiongce; Rodgers, Griffin P; Powell, Jonathan D; Tisdale, John F

    2014-07-02

    Myeloablative allogeneic hematopoietic stem cell transplantation (HSCT) is curative for children with severe sickle cell disease, but toxicity may be prohibitive for adults. Nonmyeloablative transplantation has been attempted with degrees of preparative regimen intensity, but graft rejection and graft-vs-host disease remain significant. To determine the efficacy, safety, and outcome on end-organ function with this low-intensity regimen for sickle cell phenotype with or without thalassemia. From July 16, 2004, to October 25, 2013, 30 patients aged 16-65 years with severe disease enrolled in this nonmyeloablative transplant study, consisting of alemtuzumab (1 mg/kg in divided doses), total-body irradiation (300 cGy), sirolimus, and infusion of unmanipulated filgrastim mobilized peripheral blood stem cells (5.5-31.7 × 10(6) cells/kg) from human leukocyte antigen-matched siblings. The primary end point was treatment success at 1 year after the transplant, defined as a full donor-type hemoglobin for patients with sickle cell disease and transfusion independence for patients with thalassemia. The secondary end points were the level of donor leukocyte chimerism; incidence of acute and chronic graft-vs-host disease; and sickle cell-thalassemia disease-free survival, immunologic recovery, and changes in organ function, assessed by annual brain imaging, pulmonary function, echocardiographic image, and laboratory testing. Twenty-nine patients survived a median 3.4 years (range, 1-8.6), with no nonrelapse mortality. One patient died from intracranial bleeding after relapse. As of October 25, 2013, 26 patients (87%) had long-term stable donor engraftment without acute or chronic graft-vs-host disease. The mean donor T-cell level was 48% (95% CI, 34%-62%); the myeloid chimerism levels, 86% (95% CI, 70%-100%). Fifteen engrafted patients discontinued immunosuppression medication with continued stable donor chimerism and no graft-vs-host disease. The normalized hemoglobin and

  1. Hyperfractionated total body irradiation for T-depleted HLA identical bone marrow transplants

    International Nuclear Information System (INIS)

    Latini, P.; Checcaglini, F.; Maranzano, E.; Aristei, C.; Panizza, B.M.; Gobbi, G.; Raymondi, C.; Aversa, F.; Martelli, M.F.

    1988-01-01

    Twenty patients suffering from malignant hemopathies (mean age 31.7 years) were given hyperfractionated total body irradiation (TBI) as conditioning for T-depleted HLA identical allogeneic bone marrow transplantation. At an average of 12 months (range of 4.5-22 months) follow-up there were two cases of early death and two cases (11%) of rejection. There were no cases of acute or chronic graft versus host disease nor cases of interstitial pneumonitis. The average time for durable engraftment was 22 days. Disease-free survival at 12 months was 65%. To improve the results and further reduce the percent of rejection, the authors propose intensifying the immunosuppressive conditioning by increasing the cyclophosphamide dose and that of TBI so that a total dose of 1560 cGy is reached. 35 refs.; 1 figure

  2. Comparative analysis of unrelated cord blood transplantation and HLA-matched sibling hematopoietic stem cell transplantation in children with high-risk or advanced acute leukemia.

    Science.gov (United States)

    Zheng, Changcheng; Zhu, Xiaoyu; Tang, Baolin; Yao, Wen; Song, Kaidi; Tong, Juan; Geng, Liangquan; Liu, Huilan; Sun, Zimin

    2015-03-01

    The aim of this report was to present a clinical comparison of unrelated cord blood transplantation (CBT) and human leukocyte antigen (HLA)-matched sibling allogeneic peripheral blood stem cell or bone marrow transplantation (allo-PBSCT/BMT) in children with high-risk or advanced acute leukemia. A total of 115 consecutive pediatric patients received unrelated CBT (n = 90) or sibling allo-PBSCT/BMT (n = 25) between 2000 and 2012. Neutrophil and platelet recovery were significantly delayed after CBT compared to allo-PBSCT/BMT. There was no difference in the incidence of acute graft-versus-host disease (GVHD) or chronic GVHD between the two groups. The cumulative incidence of transplant-related mortality (TRM) was higher in the CBT group than in the allo-PBSCT/BMT group (32.5 vs 12.8 %) (p = 0.03). The cumulative incidence of relapse was 13.1 % after CBT, which was significantly lower than that of after allo-PBSCT/BMT (45.3 %) (p = 0.015). The overall survival (OS) and leukemia-free survival (LFS) in the CBT group were similar to those of the allo-PBSCT/BMT group; however, for acute myeloid leukemia (AML) patients, the 5-year LFS in the CBT group was slightly better than the allo-PBSCT/BMT group (55.7 % for CBT and 32.7 % for allo-PBSCT/BMT) (p = 0.08). Our comparisons suggest that for high-risk or advanced childhood acute leukemia, unrelated CBT has a higher TRM and similar long-term survival, but better antileukemia effect than HLA-matched sibling PBSCT/BMT. New strategies and better supportive care are required to decrease the TRM of CBT.

  3. Worse outcome and more chronic GVHD with peripheral blood progenitor cells than bone marrow in HLA-matched sibling donor transplants for young patients with severe acquired aplastic anemia.

    NARCIS (Netherlands)

    Schrezenmeier, H.; Passweg, J.R.; Marsh, J.C.; Bacigalupo, A.; Bredeson, C.N.; Bullorsky, E.; Camitta, B.M.; Champlin, R.E.; Gale, R.P.; Fuhrer, M.; Klein, J.P.; Locasciulli, A.; Oneto, R.; Schattenberg, A.V.M.B.; Socie, G.; Eapen, M.

    2007-01-01

    We analyzed the outcome of 692 patients with severe aplastic anemia (SAA) receiving transplants from HLA-matched siblings. A total of 134 grafts were peripheral blood progenitor cell (PBPC) grafts, and 558 were bone marrow (BM) grafts. Rates of hematopoietic recovery and grades 2 to 4 chronic

  4. Birth order and sibling sex ratio of children and adolescents referred to a gender identity service.

    Directory of Open Access Journals (Sweden)

    Doug P Vanderlaan

    Full Text Available In adult male samples, homosexuality is associated with a preponderance of older brothers (i.e., the fraternal birth order effect. In several studies comparing gender dysphoric youth, who are likely to be homosexual in adulthood, to clinical or non-clinical control groups, the findings have been consistent with the fraternal birth order effect in males; however, less is known about unique sibship characteristics of gender dysphoric females. The current study investigated birth order and sibling sex ratio in a large sample of children and adolescents referred to the same Gender Identity Service (N = 768. Probands were classified as heterosexual males, homosexual males, or homosexual females based on clinical diagnostic information. Groups differed significantly in age and sibship size, and homosexual females were significantly more likely to be only children. Subsequent analyses controlled for age and for sibship size. Compared to heterosexual males, homosexual males had a significant preponderance of older brothers and homosexual females had a significant preponderance of older sisters. Similarly, the older sibling sex ratio of homosexual males showed a significant excess of brothers whereas that of homosexual females showed a significant excess of sisters. Like previous studies of gender dysphoric youth and adults, these findings were consistent with the fraternal birth order effect. In addition, the greater frequency of only children and elevated numbers of older sisters among the homosexual female group adds to a small literature on sibship characteristics of potential relevance to the development of gender identity and sexual orientation in females.

  5. Birth order and sibling sex ratio of children and adolescents referred to a gender identity service.

    Science.gov (United States)

    Vanderlaan, Doug P; Blanchard, Ray; Wood, Hayley; Zucker, Kenneth J

    2014-01-01

    In adult male samples, homosexuality is associated with a preponderance of older brothers (i.e., the fraternal birth order effect). In several studies comparing gender dysphoric youth, who are likely to be homosexual in adulthood, to clinical or non-clinical control groups, the findings have been consistent with the fraternal birth order effect in males; however, less is known about unique sibship characteristics of gender dysphoric females. The current study investigated birth order and sibling sex ratio in a large sample of children and adolescents referred to the same Gender Identity Service (N = 768). Probands were classified as heterosexual males, homosexual males, or homosexual females based on clinical diagnostic information. Groups differed significantly in age and sibship size, and homosexual females were significantly more likely to be only children. Subsequent analyses controlled for age and for sibship size. Compared to heterosexual males, homosexual males had a significant preponderance of older brothers and homosexual females had a significant preponderance of older sisters. Similarly, the older sibling sex ratio of homosexual males showed a significant excess of brothers whereas that of homosexual females showed a significant excess of sisters. Like previous studies of gender dysphoric youth and adults, these findings were consistent with the fraternal birth order effect. In addition, the greater frequency of only children and elevated numbers of older sisters among the homosexual female group adds to a small literature on sibship characteristics of potential relevance to the development of gender identity and sexual orientation in females.

  6. Identity Processes and Parent-Child and Sibling Relationships in Adolescence : A Five-Wave Multi-Informant Longitudinal Study

    NARCIS (Netherlands)

    Crocetti, Elisabetta; Branje, Susan; Rubini, Monica; Koot, Hans M.; Meeus, Wim

    The purpose of this study was to examine reciprocal associations between identity processes (commitment, in-depth exploration, and reconsideration of commitment) and dimensions (support, negative interaction, and power) of maternal, paternal, and sibling relationships. A total of 497 Dutch families

  7. Identity Processes and Parent–Child and Sibling Relationships in Adolescence : A Five-Wave Multi-Informant Longitudinal Study

    NARCIS (Netherlands)

    Crocetti, Elisabetta; Branje, Susan J. T.; Rubini, Monica; Koot, Hans M.; Meeus, Wim H J

    2017-01-01

    The purpose of this study was to examine reciprocal associations between identity processes (commitment, in-depth exploration, and reconsideration of commitment) and dimensions (support, negative interaction, and power) of maternal, paternal, and sibling relationships. A total of 497 Dutch families

  8. Identity processes and parent-child and sibling relationships in adolescence : A five-wave multi-informant longitudinal study

    NARCIS (Netherlands)

    Crocetti, E; Branje, S; Rubini, M; Koot, H; Meeus, W.H.J.

    2017-01-01

    The purpose of this study was to examine reciprocal associations between identity processes (commitment, in-depth exploration, and reconsideration of commitment) and dimensions (support, negative interaction, and power) of maternal, paternal, and sibling relationships. A total of 497 Dutch families

  9. Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency

    NARCIS (Netherlands)

    Schuurman, R.K.B.; Rood, J.J. van; Vossen, J.M.; Schellekens, P.Th.A.; Feltkamp-Vroom, Th.M.; Doyer, E.; Gmelig Meyling, F.H.J.; Visser, H.K.A.

    1979-01-01

    A diagnosis of partial combined immunodeficiency was made in two Turkish siblings with a history of multiple pyogenic infections and persistent candidiasis. They demonstrated severe hypo-γ-globulinemia, with B-lymphocytes, but deficient plasma cell differentiation. T-Lymphocytes were decreased in

  10. Impact of HLA diversity on donor selection in organ and stem cell transplantation.

    Science.gov (United States)

    Tiercy, Jean-Marie; Claas, Frans

    2013-01-01

    The human major histocompatibility complex is a multigene system encoding polymorphic human leucocyte antigens (HLA) that present peptides derived from pathogens to the immune system. The high diversity of HLA alleles and haplotypes in the worldwide populations represents a major barrier to organ and allogeneic hematopoietic stem cell transplantation, because HLA incompatibilities are efficiently recognized by T and B lymphocytes. In organ transplantation, pre-transplant anti-HLA antibodies need to be taken into account for organ allocation. Although HLA-incompatible transplants can be performed thanks to immunosuppressive drugs, the de novo production of anti-HLA antibodies still represents a major cause of graft failure. The HLAMatchmaker computer algorithm determines the immunogenicity of HLA mismatches and allows to define HLA antigens that will not induce an antibody response. Because of the much higher stringency of HLA compatibility criteria in stem cell transplantation, the best donor is a HLA genotypically identical sibling. However, more than 50% of the transplants are now performed with hematopoietic stem cells from volunteer donors selected from the international registry. The development of European national registries covering populations with different HLA haplotype frequencies is essential for optimizing donor search algorithms and providing the best chance for European patients to find a fully compatible donor.

  11. Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia.

    Science.gov (United States)

    Ebens, Christen L; DeFor, Todd E; Tryon, Rebecca; Wagner, John E; MacMillan, Margaret L

    2018-04-01

    Fanconi anemia (FA)-associated severe aplastic anemia (SAA) requires allogeneic hematopoietic cell transplantation (HCT) for cure. With the evolution of conditioning regimens over time, outcomes of alternative donor HCT (AD-HCT) have improved dramatically. We compared outcomes of HLA-matched sibling donor HCT (MSD-HCT; n = 17) and AD-HCT (n = 57) performed for FA-associated SAA at a single institution between 2001 and 2016. Overall survival at 5 years was 94% for MSD-HCT versus 86% for AD-HCT, neutrophil engraftment was 100% versus 95%, platelet recovery was 100% versus 89%, grade II-IV acute graft-versus-host disease (GVHD) was 6% versus 12%, grade III-IV acute GVHD was 6% versus 4%, and chronic GVHD was 0 versus 7%, with no statistically significant differences by type of transplant. The use of UCB was associated with decreased rates of neutrophil recovery in AD-HCT and platelet recovery in both MSD-HCT and AD-HCT. A trend toward a higher serious infection density before day +100 post-HCT was observed in AD-HCT compared with MSD-HCT (P = .02). These data demonstrate that AD-HCT should be considered at the same time as MSD-HCT for patients with FA-associated SAA. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  12. PBSCT is associated with poorer survival and increased chronic GvHD than BMT in Japanese paediatric patients with acute leukaemia and an HLA-matched sibling donor.

    Science.gov (United States)

    Shinzato, Aki; Tabuchi, Ken; Atsuta, Yoshiko; Inoue, Masami; Inagaki, Jiro; Yabe, Hiromasa; Koh, Katsuyoshi; Kato, Koji; Ohta, Hideaki; Kigasawa, Hisato; Kitoh, Toshiyuki; Ogawa, Atsushi; Takahashi, Yoshiyuki; Sasahara, Yoji; Kato, Shun-Ichi; Adachi, Souichi

    2013-09-01

    Peripheral blood stem cells (PBSC) may be used as an alternative to bone marrow (BM) for allogeneic transplantation. Since peripheral blood stem cell bank from unrelated volunteer donor has been started in Japan, use of PBSC allografts may be increased. Therefore we surveyed the outcomes of Japanese leukemia children after PBSC and BM transplantation. This retrospective study compared the outcomes of 661 children (0-18 years) with acute lymphoblastic leukaemia (ALL) or acute myeloid leukaemia (AML) who received their first allogeneic peripheral blood stem cell transplantation (PBSCT; n = 90) or bone marrow transplantation (BMT; n = 571) from HLA-matched siblings between January 1996 and December 2007. Neutrophil recovery was faster after PBSCT than after BMT (ALL: P vs. 9.9%, P = 0.0066; AML: 41.6% vs. 11.1%, P vs. 57.1%, P = 0.0257). The 5-year overall survival (OS) was lower after PBSCT than after BMT for ALL (42.4% vs. 63.7%, P = 0.0032) and AML (49.8% vs. 71.8%, P = 0.0163). Multivariate analysis revealed the use of PBSC was a significant risk factor for DFS and OS. PBSCT and BMT did not differ in relapse rate, acute GvHD for ALL and AML, or in DFS for AML. PBSC allografts in Japanese children engraft faster but are associated with poorer survival and increased chronic GvHD. Copyright © 2013 Wiley Periodicals, Inc.

  13. Living unrelated donors in kidney transplants: better long-term results than with non-HLA-identical living related donors?

    Science.gov (United States)

    Humar, A; Durand, B; Gillingham, K; Payne, W D; Sutherland, D E; Matas, A J

    2000-05-15

    Given the severe organ shortage and the documented superior results obtained with living (vs. cadaver) donor kidney transplants, we have adopted a very aggressive policy for the use of living donors. Currently, we make thorough attempts to locate a living related donor (LRD) or a living unrelated donor (LURD) before proceeding with a cadaver transplant. We compared the results of our LURD versus LRD transplants to determine any significant difference in outcome. Between 1/1/84 and 6/30/98, we performed 711 adult kidney transplants with non-HLA-identical living donors. Of these, 595 procedures used LRDs and 116 used LURDs. Immunosuppression for both groups was cyclosporine-based, although LURD recipients received 5-7 days of induction therapy (antilymphocyte globulin or antithymocyte globulin), whereas LRD recipients did not. LURD recipients tended to be older, to have inferior HLA matching, and to have older donors than did the LRD recipients (all factors potentially associated with decreased graft survival). Short-term results, including initial graft function and incidence of acute rejection, were similar in the two groups. LURD recipients had a slightly higher incidence of cytomegalovirus disease (P=NS). We found no difference in patient and graft survival rates. However, the incidence of biopsy-proven chronic rejection was significantly lower among LURD recipients (16.7% for LRD recipients and 10.0% for LURD recipients at 5 years posttransplant; P=0.05). LRD recipients also had a greater incidence of late (>6 months posttransplant) acute rejection episodes than did the LURD recipients (8.6% vs. 2.6%, P=0.04). The exact reason for these findings is unknown. Although LURD recipients have poorer HLA matching and older donors, their patient and graft survival rates are equivalent to those of non-HLA-identical LRD recipients. The incidence of biopsy-proven chronic rejection is lower in LURD transplants. Given this finding and the superior results of living donor (vs

  14. Familial Hodgkin lymphoma: pediatric onset in three out of five siblings

    DEFF Research Database (Denmark)

    Kamper, Peter; Kjeldsen, Eigil; Clausen, Niels

    2005-01-01

    Introduction: This is a report on FHL describing a family with five children of whom three were HLA class I genotype identical. Within a period of six years, these three siblings (one girl and two boys) were diagnosed with Epstein-Barr virus (EBV)-positive Hodgkin lymphoma (HL). Methods: In......-situ hybridisation for EBV-encoded small nuclear RNAs 1 and 2 (EBER-ISH) was performed by standard non-isotopic technique. Germline mutation analysis was performed on peripheral blood lymphocytes. Results: Two of the siblings were diagnosed at age 12, the other at age 5. All three cases were localised at diagnosis i...... on peripheral blood samples of all family members (the five siblings and their parents) did not reveal germline mutations. None of the children had overt immunodeficiency or autoimmune disease. Conclusions: Genetic factors may be involved in HL. In fact, FHL cases may share HLA haplotypes and siblings...

  15. THE TRUE IDENTITY OF COPELAND'S AQUATIC SCUTTLE FLY (DIPTERA: PHORIDAE) FROM INDIANA AND RECOGNITION OF A SIBLING SPECIES FROM TEXAS.

    Science.gov (United States)

    Disney, R Henry L; Copeland, Robert S; Murrell, Ebony

    2009-07-01

    Among the insects reported by Copeland (1989) breeding in the waters retained by treeholes in Indiana was a scuttle fly identified by W. H. Robinson as Megaselia scalaris (Loew). It is here reported that in fact this fly, along with fresh material from Illinois and Missouri, is M. imitatrix Borgmeier, whose type series was from Puerto Rico. An aquatic species reported from Texas is recognized as a sibling species of M. imitatrix and is named M. hansonix Disney, sp. nov. A single female from Brazil represents a third species of this complex, thus raising doubts about the identity of specimens from Brazil attributed to M. imitatrix by Benton and Claugher (2000).

  16. The impact of HLA matching on long-term transplant outcome after allogeneic hematopoietic stem cell transplantation for CLL: a retrospective study from the EBMT registry.

    NARCIS (Netherlands)

    Michallet, M.; Sobh, M.; Milligan, D.; Morisset, S.; Niederwieser, D.; Koza, V.; Ruutu, T.; Russell, N.H.; Verdonck, L.; Dhedin, N.; Vitek, A.; Boogaerts, M.; Vindelov, L.; Finke, J.; Dubois, V.; Biezen, A. van; Brand, R.; Witte, T.J.M. de; Dreger, P.

    2010-01-01

    We analyzed 368 chronic lymphocytic leukemia patients who underwent allogeneic hematopoietic stem cell transplantation reported to the EBMT registry between 1995 and 2007. There were 198 human leukocyte antigen (HLA)-identical siblings; among unrelated transplants, 31 were well matched in high

  17. The impact of HLA matching on long-term transplant outcome after allogeneic hematopoietic stem cell transplantation for CLL: a retrospective study from the EBMT registry

    DEFF Research Database (Denmark)

    Michallet, M; Sobh, M; Milligan, D

    2010-01-01

    We analyzed 368 chronic lymphocytic leukemia patients who underwent allogeneic hematopoietic stem cell transplantation reported to the EBMT registry between 1995 and 2007. There were 198 human leukocyte antigen (HLA)-identical siblings; among unrelated transplants, 31 were well matched in high re...

  18. Outcomes after HLA-matched sibling transplantation or chemotherapy in children with B-precursor acute lymphoblastic leukemia in a second remission: a collaborative study of the Children's Oncology Group and the Center for International Blood and Marrow Transplant Research.

    Science.gov (United States)

    Eapen, Mary; Raetz, Elizabeth; Zhang, Mei-Jie; Muehlenbein, Catherine; Devidas, Meenakshi; Abshire, Thomas; Billett, Amy; Homans, Alan; Camitta, Bruce; Carroll, William L; Davies, Stella M

    2006-06-15

    The best treatment approach for children with B-precursor acute lymphoblastic leukemia (ALL) in second clinical remission (CR) after a marrow relapse is controversial. To address this question, we compared outcomes in 188 patients enrolled in chemotherapy trials and 186 HLA-matched sibling transplants, treated between 1991 and 1997. Groups were similar except that chemotherapy recipients were younger (median age, 5 versus 8 years) and less likely to have combined marrow and extramedullary relapse (19% versus 30%). To adjust for time-to-transplant bias, treatment outcomes were compared using left-truncated Cox regression models. The relative efficacy of chemotherapy and transplantation depended on time from diagnosis to first relapse and the transplant conditioning regimen used. For children with early first relapse (children with a late first relapse (> or = 36 months), risks of second relapse were similar after TBI-containing regimens and chemotherapy (RR, 0.92; 95% CI, 0.49-1.70, P = .78). These data support HLA-matched sibling donor transplantation using a TBI-containing regimen in second CR for children with ALL and early relapse.

  19. Reduced-Intensity Transplantation for Lymphomas Using Haploidentical Related Donors Versus HLA-Matched Sibling Donors: A Center for International Blood and Marrow Transplant Research Analysis

    Science.gov (United States)

    Ghosh, Nilanjan; Karmali, Reem; Rocha, Vanderson; Ahn, Kwang Woo; DiGilio, Alyssa; Hari, Parameswaran N.; Bachanova, Veronika; Bacher, Ulrike; Dahi, Parastoo; de Lima, Marcos; D’Souza, Anita; Fenske, Timothy S.; Ganguly, Siddhartha; Kharfan-Dabaja, Mohamed A.; Prestidge, Tim D.; Savani, Bipin N.; Smith, Sonali M.; Sureda, Anna M.; Waller, Edmund K.; Jaglowski, Samantha; Herrera, Alex F.; Armand, Philippe; Salit, Rachel B.; Wagner-Johnston, Nina D.; Fuchs, Ephraim; Bolaños-Meade, Javier

    2016-01-01

    Purpose Related donor haploidentical hematopoietic cell transplantation (Haplo-HCT) using post-transplantation cyclophosphamide (PT-Cy) is increasingly used in patients lacking HLA-matched sibling donors (MSD). We compared outcomes after Haplo-HCT using PT-Cy with MSD-HCT in patients with lymphoma, using the Center for International Blood and Marrow Transplant Research registry. Materials and Methods We evaluated 987 adult patients undergoing either Haplo-HCT (n = 180) or MSD-HCT (n = 807) following reduced-intensity conditioning regimens. The haploidentical group received graft-versus-host disease (GVHD) prophylaxis with PT-Cy with or without a calcineurin inhibitor and mycophenolate. The MSD group received calcineurin inhibitor–based GVHD prophylaxis. Results Median follow-up of survivors was 3 years. The 28-day neutrophil recovery was similar in the two groups (95% v 97%; P = .31). The 28-day platelet recovery was delayed in the haploidentical group compared with the MSD group (63% v 91%; P = .001). Cumulative incidence of grade II to IV acute GVHD at day 100 was similar between the two groups (27% v 25%; P = .84). Cumulative incidence of chronic GVHD at 1 year was significantly lower after Haplo-HCT (12% v 45%; P < .001), and this benefit was confirmed on multivariate analysis (relative risk, 0.21; 95% CI, 0.14 to 0.31; P < .001). For Haplo-HCT v MSD-HCT, 3-year rates of nonrelapse mortality (15% v 13%; P = .41), relapse/progression (37% v 40%; P = .51), progression-free survival (48% v 48%; P = .96), and overall survival (61% v 62%; P = .82) were similar. Multivariate analysis showed no significant difference between Haplo-HCT and MSD-HCT in terms of nonrelapse mortality (P = .06), progression/relapse (P = .10), progression-free survival (P = .83), and overall survival (P = .34). Conclusion Haplo-HCT with PT-Cy provides survival outcomes comparable to MSD-HCT, with a significantly lower risk of chronic GVHD. PMID:27269951

  20. The impact of HLA matching on long-term transplant outcome after allogeneic hematopoietic stem cell transplantation for CLL: a retrospective study from the EBMT registry

    DEFF Research Database (Denmark)

    Michallet, M; Sobh, M; Milligan, D

    2010-01-01

    We analyzed 368 chronic lymphocytic leukemia patients who underwent allogeneic hematopoietic stem cell transplantation reported to the EBMT registry between 1995 and 2007. There were 198 human leukocyte antigen (HLA)-identical siblings; among unrelated transplants, 31 were well matched in high...... worsened significantly when EBMT risk score increased. HLA matching had no significant impact on relapse (siblings: 24% (21-27); WMUD: 35% (26-44), P=0.11 and MM: 21% (18-24), P=0.81); alemtuzumab T-cell depletion and stem cell source (peripheral blood) were associated with an increased risk. Our findings...... support the use of WMUD as equivalent alternative to HLA-matched sibling donors for allogeneic HSCT in CLL, and justify the application of EBMT risk score in this disease....

  1. HLA-Matched Sibling versus Unrelated versus Haploidentical Related Donor Allogeneic Hematopoietic Stem Cell Transplantation for Patients Aged Over 60 Years with Acute Myeloid Leukemia: A Single-Center Donor Comparison.

    Science.gov (United States)

    Devillier, Raynier; Legrand, Faezeh; Rey, Jérôme; Castagna, Luca; Fürst, Sabine; Granata, Angela; Charbonnier, Aude; Harbi, Samia; d'Incan, Evelyne; Pagliardini, Thomas; Faucher, Catherine; Lemarie, Claude; Saillard, Colombe; Calmels, Boris; Mohty, Bilal; Maisano, Valerio; Weiller, Pierre-Jean; Chabannon, Christian; Vey, Norbert; Blaise, Didier

    2018-02-12

    Haploidentical related donor (HRD) allogeneic hematopoietic stem cell transplantation (allo-HSCT) was developed as a valid option for the treatment of acute myeloid leukemia (AML) in the absence of a matched donor. However, many investigators are reluctant to consider the use of this alternative in elderly patients, anticipating high morbidity. Here, we report a single-center comparison of HRD versus matched sibling donor (MSD) and unrelated donor (UD) allo-HSCT for patients with AML aged ≥60 years. Ninety-four patients (MSD: n = 31; UD: n = 30; HRD: n = 33) were analyzed. The median age was 65 (range, 60 to 73) years. We observed a higher cumulative incidence of grade 3 to 4 acute graft-versus-host disease (GVHD) after UD allo-HSCT (MSD versus UD versus HRD: 3% versus 33% versus 6%, respectively; P = .006). Two-year cumulative incidence of moderate or severe chronic GVHD was 17%, 27%, and 16% in the MSD, UD, and HRD groups, respectively (P = .487). No difference was observed in the 2-year cumulative incidence of relapse or nonrelapse mortality (NRM) (relapse: MSD versus UD versus HRD: 32% versus 25% versus 25%, respectively; P = .411; NRM: MSD versus UD versus HRD: 19% versus 27% versus 24%, respectively; P = .709). At 2 years, progression-free survival, overall survival, and GVHD- and relapse-free survival were 48%, 50%, and 39%, respectively, in the MSD group; 48%, 51%, and 23%, respectively, in the UD group; and 50%, 52%, and 32%, respectively, in the HRD group, without statistically significant differences between the groups. We conclude that HRD allo-HSCT is highly feasible and no less efficient than MSD or UD allo-HSCT in patients with AML aged ≥60 years. Thus, the absence of a HLA-identical donor should not limit the consideration of allo-HSCT for the treatment of AML. Copyright © 2018 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  2. Non-HLA antibodies post-transplantation: clinical relevance and treatment in solid organ transplantation.

    Science.gov (United States)

    Dragun, Duska; Hegner, Bjorn

    2009-01-01

    Antibodies and B cells are increasingly recognized as major modulators of allograft function and survival. Improved immunohistochemical and serologic diagnostic procedures have been developed to monitor antibody responses against HLA antigens during the last decade. Acute and chronic allograft rejection can occur in HLA-identical sibling transplants implicating the importance of immune response against non-HLA targets. Non-HLA anti-bodies may occur as alloantiboides, yet they seem to be predominantly autoantibodies. Antigenic targets of non-HLA antibodies described thus far include various minor histocompatibility antigens, vascular receptors, adhesion molecules, and intermediate filaments. Non-HLA antibodies may function as complement- and non-complement-fixing antibodies and they may induce a wide variety of allograft injuries, reflecting the complexity of their acute and chronic actions. Refined approaches considering the subtle mechanistic differences in the individual antibody responses directed against non-HLA antigens may help to define patients at particular risk for irreversible acute or chronic allograft injuries and improve over-all outcomes. We attempted to summarize the current state of research, development in diagnostic and therapeutic strategies, and to address some emerging problems in the area of humoral response against non-HLA antigens beyond ABO blood group and MHC class I chain-related gene A and B (MICA and MICB) antigens in solid organ transplantation. Copyright (c) 2009 S. Karger AG, Basel.

  3. The impact of HLA matching on long-term transplant outcome after allogeneic hematopoietic stem cell transplantation for CLL: a retrospective study from the EBMT registry.

    Science.gov (United States)

    Michallet, M; Sobh, M; Milligan, D; Morisset, S; Niederwieser, D; Koza, V; Ruutu, T; Russell, N H; Verdonck, L; Dhedin, N; Vitek, A; Boogaerts, M; Vindelov, L; Finke, J; Dubois, V; van Biezen, A; Brand, R; de Witte, T; Dreger, P

    2010-10-01

    We analyzed 368 chronic lymphocytic leukemia patients who underwent allogeneic hematopoietic stem cell transplantation reported to the EBMT registry between 1995 and 2007. There were 198 human leukocyte antigen (HLA)-identical siblings; among unrelated transplants, 31 were well matched in high resolution ('well matched' unrelated donor, WMUD), and 139 were mismatched (MM), including 30 matched in low resolution; 266 patients (72%) received reduced-intensity conditioning and 102 (28%) received standard. According to the EBMT risk score, 11% were in scores 1-3, 23% in score 4, 40% in score 5, 22% in score 6 and 4% in score 7. There was no difference in overall survival (OS) at 5 years between HLA-identical siblings (55% (48-64)) and WMUD (59% (41-84)), P=0.82. In contrast, OS was significantly worse for MM (37% (29-48) P=0.005) due to a significant excess of transplant-related mortality. Also OS worsened significantly when EBMT risk score increased. HLA matching had no significant impact on relapse (siblings: 24% (21-27); WMUD: 35% (26-44), P=0.11 and MM: 21% (18-24), P=0.81); alemtuzumab T-cell depletion and stem cell source (peripheral blood) were associated with an increased risk. Our findings support the use of WMUD as equivalent alternative to HLA-matched sibling donors for allogeneic HSCT in CLL, and justify the application of EBMT risk score in this disease.

  4. Moving Beyond HLA: A Review of nHLA Antibodies in Organ Transplantation

    OpenAIRE

    Sigdel, Tara K.; Sarwal, Minnie M.

    2013-01-01

    Given the finite graft life expectancy of HLA identical organ transplants and the recognition of humoral graft injury in the absence of donor directed anti-HLA antibodies, the clinical impact of antibodies against non-HLA (nHLA) antigens in transplant injury is being increasingly recognized. The recognition of the impact of nHLA antigen discrepancies between donor and recipient on transplant outcomes is timely given the advances in rapid and lower cost sequencing methods that can soon provide...

  5. [Establishment of a novel HLA genotyping method for preimplantation genetic diagnonis using multiple displacement amplification-polymerase chain reaction-sequencing based technique].

    Science.gov (United States)

    Zhang, Yinfeng; Luo, Haining; Zhang, Yunshan

    2015-12-01

    To establish a novel HLA genotyping method for preimplantation genetic diagnonis (PGD) using multiple displacement amplification-polymerase chain reaction-sequencing based technique (MDA-PCR-SBT). Peripheral blood samples and 76 1PN, 2PN, 3PN discarded embryos from 9 couples were collected. The alleles of HLA-A, B, DR loci were detected from the MDA product with the PCR-SBT method. The HLA genotypes of the parental peripheral blood samples were analyzed with the same protocol. The genotypes of specific HLA region were evaluated for distinguishing the segregation of haplotypes among the family members, and primary HLA matching was performed between the embryos. The 76 embryos were subjected to MDA and 74 (97.4%) were successfully amplified. For the 34 embryos from the single blastomere group, the amplification rate was 94.1%, and for the 40 embryos in the two blastomeres group, the rate was 100%. The dropout rates for DQ allele and DR allele were 1.3% and 0, respectively. The positive rate for MDA in the single blastomere group was 100%, with the dropout rates for DQ allele and DR allele being 1.5% and 0, respectively. The positive rate of MDA for the two blastomere group was 100%, with the dropout rates for both DQ and DR alleles being 0. The recombination rate of fetal HLA was 20.2% (30/148). Due to the improper classification and abnormal fertilized embryos, the proportion of matched embryos HLA was 20.3% (15/74),which was lower than the theoretical value of 25%. PGD with HLA matching can facilitate creation of a HLA-identical donor (saviour child) for umbilical cord blood or bone marrow stem cells for its affected sibling with a genetic disease. Therefore, preimplantation HLA matching may provide a tool for couples desiring to conceive a potential donor progeny for transplantation for its sibling with a life-threatening disorder.

  6. Preimplantation genetic diagnosis with HLA matching.

    Science.gov (United States)

    Rechitsky, Svetlana; Kuliev, Anver; Tur-Kaspa, Illan; Morris, Randy; Verlinsky, Yury

    2004-08-01

    Preimplantation genetic diagnosis (PGD) has recently been offered in combination with HLA typing, which allowed a successful haematopoietic reconstitution in affected siblings with Fanconi anaemia by transplantation of stem cells obtained from the HLA-matched offspring resulting from PGD. This study presents the results of the first PGD practical experience performed in a group of couples at risk for producing children with genetic disorders. These parents also requested preimplantation HLA typing for treating the affected children in the family, who required HLA-matched stem cell transplantation. Using a standard IVF procedure, oocytes or embryos were tested for causative gene mutations simultaneously with HLA alleles, selecting and transferring only those unaffected embryos, which were HLA matched to the affected siblings. The procedure was performed for patients with children affected by Fanconi anaemia (FANC) A and C, different thalassaemia mutations, Wiscott-Aldrich syndrome, X-linked adrenoleukodystrophy, X-linked hyperimmunoglobulin M syndrome and X-linked hypohidrotic ectodermal displasia with immune deficiency. Overall, 46 PGD cycles were performed for 26 couples, resulting in selection and transfer of 50 unaffected HLA-matched embryos in 33 cycles, yielding six HLA-matched clinical pregnancies and the birth of five unaffected HLA-matched children. Despite the controversy of PGD use for HLA typing, the data demonstrate the usefulness of this approach for at-risk couples, not only to avoid the birth of affected children with an inherited disease, but also for having unaffected children who may also be potential HLA-matched donors of stem cells for treatment of affected siblings.

  7. Moving beyond HLA: a review of nHLA antibodies in organ transplantation.

    Science.gov (United States)

    Sigdel, Tara K; Sarwal, Minnie M

    2013-11-01

    Given the finite graft life expectancy of HLA identical organ transplants and the recognition of humoral graft injury in the absence of donor directed anti-HLA antibodies, the clinical impact of antibodies against non-HLA (nHLA) antigens in transplant injury is being increasingly recognized. The recognition of the impact of nHLA antigen discrepancies between donor and recipient on transplant outcomes is timely given the advances in rapid and lower cost sequencing methods that can soon provide complete maps of all recipient and donor HLA and nHLA mismatch data. In this review, we present a summary of recent reports evaluating the role of nHLA antibodies and their relevance to the field of organ transplantation. Copyright © 2013 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  8. Preimplantation HLA typing for stem cell transplantation treatment of hemoglobinopathies

    Directory of Open Access Journals (Sweden)

    Anver Kuliev

    2014-09-01

    Full Text Available Preimplantation genetic diagnosis (PGD for HLA typing is steadily becoming an option for at risk couples with thalassemic children, requiring HLA matched bone marrow transplantation treatment. The paper presents the world’s largest PGD experience of 475 cases for over 2 dozens thalassemia mutations, resulting in birth of 132 unaffected children. A total of 146 cases were performed together with preimplantation HLA typing, resulting in detection and transfer of HLA matched unaffected embryos in 83 of them, yielding the birth of 16 HLA matched children, potential donors for their affected siblings. The presented experience of HLA matched stem cell transplantation for thalassemia, following PGD demonstrated a successful hematopoietic reconstitution both for younger and older patients. The data show that PGD is an efficient approach for HLA matched stem cell transplantation treatment for thalassemia.

  9. Sibling Incest.

    Science.gov (United States)

    Phillips-Green, Mary J.

    2002-01-01

    Recently, sibling incest, a type of intrafamilial incest, has received notice from mental health professionals; however, many professionals still do not recognize the seriousness of the problem. This article reviews current research on the individual and family dynamics that allow sibling incest to occur, the effects of sibling incest on victims,…

  10. Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings.

    Directory of Open Access Journals (Sweden)

    2006-03-01

    Full Text Available The study of continuously varying, quantitative traits is important in evolutionary biology, agriculture, and medicine. Variation in such traits is attributable to many, possibly interacting, genes whose expression may be sensitive to the environment, which makes their dissection into underlying causative factors difficult. An important population parameter for quantitative traits is heritability, the proportion of total variance that is due to genetic factors. Response to artificial and natural selection and the degree of resemblance between relatives are all a function of this parameter. Following the classic paper by R. A. Fisher in 1918, the estimation of additive and dominance genetic variance and heritability in populations is based upon the expected proportion of genes shared between different types of relatives, and explicit, often controversial and untestable models of genetic and non-genetic causes of family resemblance. With genome-wide coverage of genetic markers it is now possible to estimate such parameters solely within families using the actual degree of identity-by-descent sharing between relatives. Using genome scans on 4,401 quasi-independent sib pairs of which 3,375 pairs had phenotypes, we estimated the heritability of height from empirical genome-wide identity-by-descent sharing, which varied from 0.374 to 0.617 (mean 0.498, standard deviation 0.036. The variance in identity-by-descent sharing per chromosome and per genome was consistent with theory. The maximum likelihood estimate of the heritability for height was 0.80 with no evidence for non-genetic causes of sib resemblance, consistent with results from independent twin and family studies but using an entirely separate source of information. Our application shows that it is feasible to estimate genetic variance solely from within-family segregation and provides an independent validation of previously untestable assumptions. Given sufficient data, our new paradigm will

  11. Sibling influences on childhood development.

    Science.gov (United States)

    Dunn, J

    1988-03-01

    To summarize the main points concerning sibling influence: 1. That siblings play a causal role in the development of aggressive behavior, in children's style of conflict behavior and in cooperative fantasy play is strongly suggested by recent research. 2. Marked problems in the sibling relationship are indicative of other problems, but a causal role for siblings is not established, other than for aggressive behavior. 3. Family factors are closely involved in the quality of sibling relationships--and thus in sibling influence, namely differential parental behavior, and the emotional climate of the family. That is, it is important not to consider the sibling relationship in isolation from other family relationships. 4. Studies of families under stress indicate heightened importance of these family factors. 5. It is likely, but not yet established, that later-born siblings are influenced by first-born in socio-cognitive development and gender identity. 6. Finally it should be noted that an important theme in current research on siblings is a concern with the question of why siblings develop to be so different from one another. It has been shown that the major source of environmental influence on the development of individual differences is within-family rather than between-family differences in experience (Plomin & Daniels, 1987). The different experiences each sibling may have within their relationship is one potential source of such differential environmental influence. Thus documenting the influence of siblings upon each other takes on added significance: By clarifying the extent and nature of this influence we will gain not only useful clinical information but illumination on a developmental principle of very general significance.

  12. Older Siblings Influence Younger Siblings' Motor Development

    Science.gov (United States)

    Berger, Sarah E.; Nuzzo, Katie

    2008-01-01

    Evidence exists for two competing theories about the effects of having an older sibling on development. Previous research has found that having an older sibling has both advantages and disadvantages for younger siblings' development. This study examined whether and how older siblings influenced the onset of their own younger siblings' motor…

  13. HLA matching in unrelated donor bone marrow transplantation.

    Science.gov (United States)

    Charron, D J

    1996-11-01

    The availability of an HLA-matched sibling donor in only 30% to 35% of patients requiring allogeneic bone marrow transplantation (BMT) has led to the proposal of unrelated donors as an alternative source of bone marrow. The greater HLA incompatibility, which, although present, was undetected until recently in many unrelated donor BMT cases, has resulted in a higher rate of posttransplant complications and impaired acturial survival when compared with HLA-matched sibling BMT. Molecular HLA typing enables us to evaluate the impact of incompatibility at each locus in the outcome of unrelated donor BMT. The overall retrospective data would recommend that HLA-A, -B and -C allelic molecular matching should be implemented in addition to HLA-DR allelic matching. Further retrospective analysis is needed in order to assess which incompatibility or combinations are better tolerated than others. Only the definitive knowledge at the sequence level of the donor and the recipient HLA allelic diversity involved in controlling the allogeneic immune response will allow us to understand the precise biologic rationale of the graft-versus-host disease. Knowledge and control of the HLA incompatibilities should allow us to offset the detrimental effects of histoincompatibility while developing strategies to take advantage of the beneficial graft-versus-leukemia effect. Also the role of minor histocompatibility antigens remains largely unknown and will require careful evaluation before minor antigens can be used as a selection criterion in BMT. Carefully designed prospective studies will enable us to test the impact of each HLA locus. HLA typing and BMT represent a successful example of productive cooperation between basic and clinical sciences that should be pursued for the improvement of the clinical outcome of unrelated donor BMT.

  14. HLA-DR-expressing cells and T-lymphocytes in sural nerve biopsies

    DEFF Research Database (Denmark)

    Schrøder, H D; Olsson, T; Solders, G

    1988-01-01

    was confirmed. HLA-DR expression was found in all biopsies and thus was not restricted to any particular type of neuropathy. The HLA-DR expression appeared to correlate with severity and activity of the neuropathy. HLA-DR-expressing macrophages wrapping myelinated fibers were prominent in primary demyelinating......Thirty-five sural nerve biopsies were stained immunohistochemically for HLA-DR antigen. HLA-DR was expressed on nonmyelinating Schwann cells, macrophages, vascular endothelium, and perineurium. By means of double immunofluorescence staining the identity of the HLA-DR presenting structures...

  15. HLA diversity in the 1000 genomes dataset.

    Directory of Open Access Journals (Sweden)

    Pierre-Antoine Gourraud

    Full Text Available The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation by sequencing at a level that should allow the genome-wide detection of most variants with frequencies as low as 1%. However, in the major histocompatibility complex (MHC, only the top 10 most frequent haplotypes are in the 1% frequency range whereas thousands of haplotypes are present at lower frequencies. Given the limitation of both the coverage and the read length of the sequences generated by the 1000 Genomes Project, the highly variable positions that define HLA alleles may be difficult to identify. We used classical Sanger sequencing techniques to type the HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 genes in the available 1000 Genomes samples and combined the results with the 103,310 variants in the MHC region genotyped by the 1000 Genomes Project. Using pairwise identity-by-descent distances between individuals and principal component analysis, we established the relationship between ancestry and genetic diversity in the MHC region. As expected, both the MHC variants and the HLA phenotype can identify the major ancestry lineage, informed mainly by the most frequent HLA haplotypes. To some extent, regions of the genome with similar genetic or similar recombination rate have similar properties. An MHC-centric analysis underlines departures between the ancestral background of the MHC and the genome-wide picture. Our analysis of linkage disequilibrium (LD decay in these samples suggests that overestimation of pairwise LD occurs due to a limited sampling of the MHC diversity. This collection of HLA-specific MHC variants, available on the dbMHC portal, is a valuable resource for future analyses of the role of MHC in population and disease studies.

  16. BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT.

    Science.gov (United States)

    Piras, Ignazio Stefano; Angius, Andrea; Andreani, Marco; Testi, Manuela; Lucarelli, Guido; Floris, Matteo; Marktel, Sarah; Ciceri, Fabio; La Nasa, Giorgio; Fleischhauer, Katharina; Roncarolo, Maria Grazia; Bulfone, Alessandro; Gregori, Silvia; Bacchetta, Rosa

    2014-11-01

    The genetic background of donor and recipient is an important factor determining the outcome of allogeneic hematopoietic SCT (allo-HSCT). We applied whole-genome analysis to investigate genetic variants-other than HLA class I and II-associated with negative outcome after HLA-identical sibling allo-HSCT in a cohort of 110 β-Thalassemic patients. We identified two single-nucleotide polymorphisms (SNPs) in BAT2 (A/G) and BAT3 (T/C) genes, SNP rs11538264 and SNP rs10484558, both located in the HLA class III region, in strong linkage disequilibrium between each other (R(2)=0.92). When considered as single SNP, none of them reached a significant association with graft rejection (nominal P<0.00001 for BAT2 SNP rs11538264, and P<0.0001 for BAT3 SNP rs10484558), whereas the BAT2/BAT3 A/C haplotype was present at significantly higher frequency in patients who rejected as compared to those with functional graft (30.0% vs 2.6%, nominal P=1.15 × 10(-8); and adjusted P=0.0071). The BAT2/BAT3 polymorphisms and specifically the A/C haplotype may represent a novel immunogenetic factor associated with graft rejection in patients undergoing allo-HSCT.

  17. Presentation of human minor histocompatibility antigens by HLA-B35 and HLA-B38 molecules

    International Nuclear Information System (INIS)

    Yamamoto, Junji; Kariyone, Ai; Kano, Kyoichi; Takiguchi, Masafumi; Akiyama, Nobuo

    1990-01-01

    Cytotoxic T lymphocyte (CTL) clones specific for human minor histocompatibility antigens (hmHAs) were produced from a patient who had been grafted with the kidneys from his mother and two HLA-identical sisters. Of eight CTL clones generated, four recognized an hmHA (hmHA-1) expressed on cells from the mother and sister 3 (second donor); two recognized another antigen (hmHA-2) on cells from the father, sister (third donor), and sister 3; and the remaining two clones recognized still another antigen (hmHA-3) on cells from the father and sister 3. Panel studies revealed that CTL recognition of hmHA-1 was restricted by HLA-B35 and that of hmHA-2 and hmHA-3 was restricted by HLA-B38. The HLA-B35 restriction of the hmHA-1 -specific CTL clones was substantiated by the fact that they killed HLA-A null/HLA-B null Hmy2CIR targets transfected with HLA-B35 but not HLA-B51, -Bw52, or -Bw53 transfected Hmy2CIR targets. These data demonstrated that the five amino acids substitutions on the α 1 domain between HLA-B35 and -Bw53, which are associated with Bw4/Bw6 epitopes, play a critical role in the relationship of hmHA-1 to HLA-B35 molecules. The fact that the hmHA-1-specific CTLs failed to kill Hmy2CIR cells expressing HLA-B35/51 chimeric molecules composed of the α 1 domain of HLA-B35 and other domains of HLA-B51 indicated that eight residues on the α 2 domain also affect the interaction of hmHA-1 and the HLA-B35 molecules

  18. "Saviour siblings".

    Science.gov (United States)

    Spriggs, M; Savulescu, J

    2002-10-01

    The Victorian Infertility Treatment Authority has given permission to allow tissue typing in combination with preimplantation genetic diagnosis. This is a new application of IVF. Not only will it allow parents to select an embryo free from serious genetic disease it will allow them to simultaneously select for a match so that the umbilical cord blood of the resulting baby can provide stem cells to treat an existing sibling who has a disease.

  19. [Preimplantation genetic diagnosis in order to choose a saviour sibling].

    Science.gov (United States)

    Shenfield, F

    2005-10-01

    Preimplantation genetic diagnosis with HLA matching in order to bring about the birth of a saviour sibling is not mere instrumentalisation of the future child, as long as the post natal test is used and the future child will be looked after with the same love and care as if he/she had not been selected as well for the purpose.

  20. Tensions among siblings in parent care.

    Science.gov (United States)

    Lashewicz, Bonnie; Keating, Norah

    2009-06-01

    From a place of "genealogical equivalence" as children of their parents, siblings spend a lifetime developing separate identities. As parents near the end of their lives, issues of sibling equivalence are renegotiated in the face of equal obligations to provide care and equal entitlement to parent assets. In this paper, we hypothesize how unresolved issues of rivalry for parent affection/attention among siblings may be reasserted when parents need care. Data are drawn from a project about how parent care and assets are shared. In-depth interviews with three sibling groups experiencing conflict over sharing parent care and assets along with six Canadian legal case portrayals of disputes among siblings over how parent care and assets were shared are examined. Findings are that disputes occur when siblings perceive others as dominating parent care and assets through tactics such as separating the parent from other siblings and preventing other siblings from being engaged in decisions about care and assets. Discussion is focused on paradoxes faced by siblings given expectations for equity in parent relationships alongside perceived pre-eminence in care and asset decisions.

  1. Haematopoietic transplants combining a single unrelated cord blood unit and mobilized haematopoietic stem cells from an adult HLA-mismatched third party donor. Comparable results to transplants from HLA-identical related donors in adults with acute leukaemia and myelodysplastic syndromes.

    Science.gov (United States)

    Sebrango, Ana; Vicuña, Isabel; de Laiglesia, Almudena; Millán, Isabel; Bautista, Guiomar; Martín-Donaire, Trinidad; Regidor, Carmen; Cabrera, Rafael; Fernandez, Manuel N

    2010-06-01

    We describe results of the strategy, developed by our group, of co-infusion of mobilized haematopoietic stem cells as a support for single-unit unrelated cord blood transplant (dual CB/TPD-MHSC transplants) for treatment of haematological malignancies in adults, and a comparative analysis of results obtained using this strategy and transplants performed with mobilized haematopoietic stem cells from related HLA-identical donors (RTD) for treatment of adults with acute leukaemia and myelodysplastic syndromes. Our data show that the dual CB/TPD-MHSC transplant strategy results in periods of post-transplant neutropenia, final rates of full donor chimerism and transplant-related mortality rates comparable to those of the RTD. Final survival outcomes are comparable in adults transplanted because of acute leukaemia, with different incidences of the complications that most influence these: a higher incidence of infections related to late recovery of protective immunity dependent on T cell functions, and a lower incidence of serious acute graft-versus-host disease and relapses. Recent advances in cord blood transplant techniques allow allogeneic haematopoietic stem cell transplantation (HSCT) to be a viable option for almost every patient who may benefit from this therapeutic approach. Development of innovative strategies to improve the post-transplant recovery of T cells function is currently the main challenge to further improving the possibilities of unrelated cord blood transplantation. Copyright © 2010 Elsevier Ltd. All rights reserved.

  2. Sibling negotiation

    OpenAIRE

    Rufus A. Johnstone; Alexandre Roulin

    2003-01-01

    Current discussions of offspring begging typically assume either that it is a signal directed at parents or that it represents a form of scramble competition to gain access to them. However, offspring might also display to inform nest mates that they will contest the next food item to be delivered; in other words, begging (possibly in the absence of parents) might serve purely as a form of negotiation among siblings. Here, we develop a game-theoretical model of this possibility. We assume tha...

  3. HLA-B*14

    DEFF Research Database (Denmark)

    Leitman, Ellen M.; Willberg, Christian B.; Tsai, Ming Han

    2017-01-01

    Immune control of human immunodeficiency virus type 1 (HIV) infection is typically associated with effective Gag-specific CD8+ T-cell responses. We here focus on HLA-B*14, which protects against HIV disease progression, but the immunodominant HLA-B*14-restricted anti-HIV response is Env specific...... higher functional avidity (P associated protection against HIV disease progression...... is significantly greater for HLA-B*14:02 than for HLA-B*14:01, consistent with the superior antiviral efficacy of the HLA-B*14-EL9 response. Thus, although Gag-specific CD8+ T-cell responses may usually have greater anti-HIV efficacy, factors independent of protein specificity, including functional avidity...

  4. HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

    Directory of Open Access Journals (Sweden)

    Megiorni Francesca

    2012-10-01

    Full Text Available Abstract Celiac disease (CD is a multifactorial disorder with an estimated prevalence in Europe and USA of 1:100 and a female:male ratio of approximately 2:1. The disorder has a multifactorial etiology in which the triggering environmental factor, the gluten, and the main genetic factors, Human Leukocyte Antigen (HLA-DQA1 and HLA-DQB1 loci, are well known. About 90-95% of CD patients carry DQ2.5 heterodimers, encoded by DQA1*05 and DQB1*02 alleles both in cis or in trans configuration, and DQ8 molecules, encoded by DQB1*03:02 generally in combination with DQA1*03 variant. Less frequently, CD occurs in individuals positive for the DQ2.x heterodimers (DQA1≠*05 and DQB1*02 and very rarely in patients negative for these DQ predisposing markers. HLA molecular typing for Celiac disease is, therefore, a genetic test with a negative predictive value. Nevertheless, it is an important tool able to discriminate individuals genetically susceptible to CD, especially in at-risk groups such as first-degree relatives (parents, siblings and offspring of patients and in presence of autoimmune conditions (type 1 diabetes, thyroiditis, multiple sclerosis or specific genetic disorders (Down, Turner or Williams syndromes.

  5. Sibling deidentification in the clinic: devil vs. angel.

    Science.gov (United States)

    Schachter, F F

    1985-09-01

    A four-member family structure consisting of two siblings contrasting in personality (sibling deidentification) and each identified with a different parent (split-parent identification) was recently reported (15). In well-functioning families, this tetrad or quadrangle is wide-spread in the first pair of siblings in the family and tends to be more common in same-sex pairs, suggesting that sibling deidentification is designed to mitigate the relatively intense sibling rivalry characteristic of these pairs and hence to maintain family harmony. In this collated case report, deidentification is found to follow the same pattern in 39 clinic first pairs. However, contrasting attributes are varied and nonevaluative in nonclinic pairs but mainly "good-bad" in clinic pairs, with polarization extreme. Results suggest that nonclinic siblings negotiate their identity (being) much as they negotiate about possessions (having) and that negotiations are blocked in clinic pairs, freezing mythic devil or angel identity. Intervention is directed at dislodging this block.

  6. Bullying among siblings.

    Science.gov (United States)

    Wolke, Dieter; Skew, Alexandra J

    2012-01-01

    Parents are often concerned about repeated conflicts between their daughters and sons. However, there is little empirical research of sibling bullying. To conduct a review of existing studies of sibling bullying. Are there any associations between sibling bullying and peer bullying at school? What are the consequences of sibling bullying? Is there good justification why sibling bullying has been so neglected in research? Studies of sibling relationships were reviewed. Four quantitative studies were identified that report on both sibling and peer bullying. Sibling bullying is frequent with up to 50% involved in sibling bullying every month and between 16% and 20% involved in bullying several times a week. Experience of sibling bullying increases the risk of involvement in bullying in school. Both, bullying between siblings and school bullying make unique contributions to explaining behavioral and emotional problems. There is a clear dose-effect relationship of involvement of bullying at home and at school and behavioral or emotional problems. Those involved in both have up to 14 times increased odds of behavioral or emotional problems compared to those involved in only one context or not at all. The empirical evidence is limited and studies are mostly cross-sectional studies. Nevertheless, the review suggests that for those victimized at home and at school behavioral and emotional problems are highly increased. Sibling relationships appear to be a training ground with implications for individual well-being. Strengthening families and parenting skills and increasing sibling support is likely to reduce bullying and increase well-being.

  7. Identity's identities

    DEFF Research Database (Denmark)

    Jensen, Kim Ebensgaard

    -specialized language in which it also serves a number of functions – some of which are quite fundamental to society as such. In other words, the lexeme identity is a polysemic word and has multiple, well, identities. Given that it appears to have a number of functions in a variety of registers, including terminologies...... in Academic English and more everyday-based English, identity as a lexeme is definitely worth having a look at. This paper presents a lexicological study of identity in which some of its senses are identified and their behaviors in actual discourse are observed. Drawing on data from the 2011 section...... of the Corpus of Contemporary American English, a behavioral profile of the distributional characteristics of identity is set up. Behavioral profiling is a lexicographical method developed by the corpus linguist Stefan Th. Gries which, by applying semantic ID tagging and statistical analysis, provides a fine...

  8. [Extending preimplantation genetic diagnosis to HLA typing: the French exception].

    Science.gov (United States)

    Steffann, Julie; Frydman, Nelly; Burlet, Philippe; Gigarel, Nadine; Hesters, Laetitia; Kerbrat, Violaine; Lamazou, Frédéric; Munnich, Arnold; Frydman, René

    2011-01-01

    Umut-Talha, a "sibling savior", was born on 26 January 2011 at Beclère Hospital after embryo selection at the Paris preimplantation genetic diagnosis (PGD) center. His birth revived the controversy over "double PGD". This procedure, authorized in France since 2006, allows couples who already have a child with a serious, incurable genetic disease, to opt for PGD in order to select a healthy embryo that is HLA-matched to the affected sibling and who may thus serve as an ombilical cord blood donor. The procedure is particularly complex and the baby take-home rate is still very low. Double PGD is strictly regulated in France, and candidate couples must first receive individual authorization from the Biomedicine Agency. In our experience, these couples have a strong desire to have children, as reflected by the large number of prior spontaneous pregnancies (25% of couples). Likewise, most of these couples request embryo transfer even when there is no HLA-matched embryo, which accounts for more than half of embryo transfers. The controversy surrounding this practice has flared up again in recent weeks, over the concepts of "designer babies" and "double savior siblings" (the baby is selected to be free of the hereditary disease, and may also serve as a stem cell donor for the affected sibling).

  9. Sibling fairy tales

    Directory of Open Access Journals (Sweden)

    Luisa Brunori

    2014-06-01

    Full Text Available The article offers a reflection on sibling relationships starting from fairy tales. Their archetypical meaning and educative value are particularly analyzed. A selection of fairy tales having sibling relationships as their central theme is discussed.

  10. Personality and Sibling Relationships.

    Science.gov (United States)

    Furman, Wyndol; Lanthier, Richard P.

    1996-01-01

    This study examined the role personality variables play in sibling relationships. It proposed that the characteristics of sibling relationships are influenced by: family constellation variables such as birth order, gender, and age spacing; parent-child relationships including quality of relationship and parent management of siblings; and the…

  11. [Sibling relations between individuation and attachment: attempt at a conceptualization].

    Science.gov (United States)

    Seiffge-Krenke, I

    2001-01-01

    Although sibling relationships can be considered as one of the most durable and intensive relationships, not much research in developmental psychology and family research has been done on this issue. The strong focus on parents, more specifically on mothers, stood in the way of adequate conceptualization and understanding of the function and contribution of siblings to individual development and family interaction. In this contribution a conceptualization of sibling relationships is presented. Siblings as objects of aggressive and sexual feelings as well as the function of siblings in the family system, for example, as parentification and negative identity is emphasized. In addition, the different qualities of sibling relationships, for example, envy, rivalry, similarity, and difference, are emphasized. The function of siblings as love objects is stressed, and the role of siblings as support as well as teaching object is illustrated. Finally, it is emphasized that, similar to relationships between parents and child, the quality of sibling relationships changed over time and leads, for example, to a detachment between sibling relationships during adolescence.

  12. HLA-DQA1 typing in Danes by two polymerase chain reaction (PCR) based methods

    DEFF Research Database (Denmark)

    Cowland, J B; Madsen, H O; Morling, N

    1995-01-01

    (ASA) method, which together recognise eight alleles. In 146 unrelated Danish individuals, the HLA-DQA1 alleles were in Hardy-Weinberg equilibrium. For identity testing, the power of discrimination (PD) of HLA-DQA1 was 0.932 with the RDB method and 0.942 with the PCR-RFLP/ASA method. For paternity...

  13. HLA in bone marrow transplantation

    International Nuclear Information System (INIS)

    Tsuji, Kimiyoshi

    1989-01-01

    It has been well understood that human major histocompatibility antigen system, HLA is the most important role in the allo transplantation. Therefore, the structure of HLA genes was presented by the recent information (1987). Moreover, their functions in vitro and in vivo also were described. Finally, bone marrow transplantation and HLA network system in Japan against HLA mismatched case was proposed. It is eagerly expected that functional and clinical bone marrow transplantation in Japan could be succeeded. (author)

  14. The Well Siblings of Schizophrenics.

    Science.gov (United States)

    Samuels, Laurel; Chase, Laura

    1979-01-01

    Explores the impact of having a schizophrenic sibling. Subjects functioned at high levels of adjustment. Separated from their families, there followed a period of reinvolvement, including responsibility for the ill sibling. Younger siblings expressed guilt over being well, whereas older siblings expressed guilt over earlier sibling rivalry.…

  15. Avaliação do percentual de compatibilidade HLA entre membros da mesma família para pacientes à espera de transplante de medula óssea em Santa Catarina, Brasil Evaluation of the percentage of HLA compatibility between members of the same family for patients awaiting bone marrow transplantation in the state of Santa Catarina, Brazil

    Directory of Open Access Journals (Sweden)

    Carine Meinerz

    2008-10-01

    Full Text Available O transplante de medula óssea (TMO é uma terapia especial utilizada para tratar pacientes com doenças hematológicas e certas alterações genéticas. Para que um transplante seja bem sucedido, é necessário, entre outros fatores, que haja compatibilidade para moléculas codificadas pelos genes HLA. Em geral, os transplantes de melhor prognóstico são aqueles realizados entre irmãos HLA idênticos. Este trabalho tem por objetivo avaliar o percentual de compatibilidade de doadores de medula óssea (MO nas famílias de pacientes que necessitam de TMO no estado de Santa Catarina. A coleta dos dados foi realizada no arquivo do Laboratório de Imunogenética do Hemocentro de Santa Catarina (Hemosc, compreendendo o período de 2000 a 2007. Foram totalizados 469 casos de pacientes à espera de TMO. Para estes, foram triados 2.463 possíveis doadores aparentados. Destes, 49,8% eram irmãos dos pacientes. Houve compatibilidade com algum membro da família do paciente em 213 (45,4% casos, sendo que 99% das compatibilidades foram estabelecidas entre irmãos, 0,7% com mães e 0,3% com tios dos pacientes. Avaliando-se os doadores, obteve-se um total de 1.230 irmãos tipificados para doação, dos quais 296 (24,06% apresentaram compatibilidade com o paciente para o qual realizaram a tipificação. Os dados encontrados neste estudo mostram que a possibilidade de que seja encontrado um doador compatível para TMO dentro da família do paciente, em Santa Catarina, é bastante promissora, principalmente entre irmãos do paciente.Bone marrow transplantation (BMT is a special therapy used to treat patients with hematological diseases and certain genetic disorders. For a transplant to be successful, it is necessary, among others factors, to have compatibility of the molecules coded by HLA genes. In general, the best prognosis for BMT is obtained with HLA-identical siblings. The aim of this work was to evaluate the percentage of compatibility between patients

  16. Familial concordance of phenotype and microbial variation among siblings with CF.

    Science.gov (United States)

    Picard, Elie; Aviram, Micha; Yahav, Yaakov; Rivlin, Joseph; Blau, Hanna; Bentur, Lea; Avital, Avraham; Villa, Yael; Schwartz, Shepard; Kerem, Batsheva; Kerem, Eitan

    2004-10-01

    The clinical spectrum of cystic fibrosis (CF) is influenced by the cystic fibrosis transmembrane conductance regulator (CFTR) genotype. However, variable courses of the disease were demonstrated among patients with identical genotypes. Since siblings share identical CFTR mutations and environmental factors, they can serve as a model to assess the effect of modifier genes on disease expression, and also to evaluate cross-infection. The aim of this study was to compare disease expression among siblings with CF. All sibling pairs treated at 7 CF centers in Israel were included in the study. Data were collected from patients' medical charts. Fifty families with at least 2 siblings were identified. As expected, the second-born sibling was diagnosed at an earlier age compared to the first-born. The mode of CF presentation at diagnosis showed significant familial concordance. In the families where the first sibling presented with gastrointestinal manifestations, 79% of the second siblings also presented with gastrointestinal manifestations. When gastrointestinal manifestations were absent in the first sibling, only 12% of the second siblings presented with gastrointestinal manifestations (P sibling presented with respiratory symptoms, 60% of the second siblings presented with the similar symptoms. However, when the first sibling presented without respiratory symptoms, only 12% of the second siblings presented with respiratory symptoms (P sibling had MI, 8 (80%) of the subsequent siblings had MI. On the other hand, in the 39 families where the first-born sibling did not have MI, only 2 (5%) subsequent siblings had MI (P siblings. P. aeruginosa grew from sputum in 89% of our study patients. When P. aeruginosa was isolated from the first-born patient, 91% of the second siblings were also positive for P. aeruginosa, whereas when the initial sibling was not a carrier of P. aeruginosa, only 50% of subsequent siblings were positive (P sibling than in the first for the two

  17. Sibling differentiation: sibling and parent relationship trajectories in adolescence.

    Science.gov (United States)

    Feinberg, Mark E; McHale, Susan M; Crouter, Ann C; Cumsille, Patricio

    2003-01-01

    Studied here were the links between sibling differences in trajectories of change in the qualities of parent-child relationships and the qualities of sibling relationships across a 2-year period in adolescence. Participants were first- and second-born siblings (M age = 14.94 years for firstborns and M age = 12.46 years for secondborns) from 185 predominantly White, working and middle-class families. In home interviews, siblings reported on their dyadic family relationships. For reports of parent-child warmth but not parent-child conflict, results were consistent with sibling differentiation theory: Increasing differences between siblings over time in parent-child warmth were linked to trajectories of increasing warmth and decreasing conflict in the sibling relationship as reported by firstborns, and increasing warmth in the sibling relationship as reported by secondborns. The findings support the view that sibling differentiation may be a strategy for managing sibling conflict and rivalry.

  18. Relationships between adult siblings

    Directory of Open Access Journals (Sweden)

    Nives Ličen

    2006-12-01

    Full Text Available The author presents learning in private relationships between adult siblings. A concept of a family as microculture is presented, which is a source for giving explanation for random and opportunist learning. The author has used a biographic method of research. Using thematic life stories, which she has familiarized herself with through thematicalbiographical interviews is a basis to establish which events have served for learning in relationships between siblings.

  19. HLA RTI performance evaluation

    CSIR Research Space (South Africa)

    Malinga, L

    2009-07-01

    Full Text Available size of the UDP packet of the network, namely 64 KB, when using the best effort mode. The performance analysis task of the different RTIs was undertaken for two reasons. The first is to re-establish a High Level Architecture (HLA) in our Research... exchange messages over the network with the RTI Gateway process, via TCP sockets or UDP in order to realise the services associated with the RTI. The allocation of CPU resources to the federate and the RTIA process is exclusively managed...

  20. Haplótipos HLA mais freqüentes em doadores voluntários de medula óssea de Curitiba, Paraná

    Directory of Open Access Journals (Sweden)

    Bicalho Maria G.

    2002-01-01

    Full Text Available Bone Marrow Transplant (BMT is a therapy used to treat patients with hematological diseases. The success of the transplant relies on a HLA match between host and donor. The HLA is located in the Major Histocompatibility Complex in the 6p12.3 region of the chromosome 6. The HLA gene products are involved in the immunomodulation of the immune response due to their function of presenting peptides to the T cells. The HLA genes are the most polymorphic in humans and the most relevant genetic marker for clinical transplants and are largely used in population studies. The knowledge of the HLA-A, HLA-B and HLA-DR haplotype frequencies of bone marrow donors is an important tool when a patient needs an identical HLA donor, and there are few population studies similar to this in Brazil. The HLA typing was performed in the LIGH of the UFPR by the PCR-SSP technique. The most common haplotypes among the population studied were HLA-A*01B*08DR*03, HLA-A*29B*44DR*07 and HLA-A*03B*07DR*15. The search of a Brazilian patient for an identical HLA donor is usually hopeless and the understanding of the HLA frequencies permits a real foreknowledge of the success of this search. Success depends on the eventual registration of the perfect donor in the national centers of bone marrow donation. Aiming to increase the perspectives of patients who need a BMT, the evaluation of the HLA frequencies and the enhancement of the national registrations of bone marrow donors are crucial for the accomplishment of this objective.

  1. Infusion of Sibling Marrow in a Patient with Purine Nucleoside Phosphorylase Deficiency Leads to Split Mixed Donor Chimerism and Normal Immunity

    Directory of Open Access Journals (Sweden)

    Laura Yeates

    2017-06-01

    Full Text Available Purine nucleoside phosphorylase (PNP deficiency, a rare autosomal recessive metabolic disease causes combined immunodeficiency and developmental delay, hypotonia, and spasticity. Patients present with recurrent infections associated with T-lymphocytopenia, characteristically presenting later than patients with classical severe combined immunodeficiency (SCID. PNP, with adenosine deaminase (ADA, is part of the purine salvage pathway. The only curative therapy is hematopoietic stem cell transplantation. Myeloablative conditioning is recommended to prevent rejection caused by residual immune function. However, HLA-identical sibling stem cell infusions in ADA-SCID result in some donor stem cell engraftment and long-term thymopoiesis. We report a patient with PNP deficiency, who received HLA-identical sibling marrow without chemotherapy because of disseminated cytomegalovirus (CMV infection. The patient presented at 14 months of age following recurrent infections, from early infancy, with persistent irritability, developmental delay, and hypotonia. She had neutropenia, pan-lymphocytopenia, and hypogammaglobulinemia with low plasma urate and erythrocyte PNP activity. Diagnosis was confirmed with a homozygous mutation in PNP. The patient was viremic with CMV detected in blood and CSF by PCR. Dual antiviral therapy improved the clinical condition and reduced the viral load. In view of the disseminated CMV infection, the decision was made to infuse stem cells without any pre-conditioning chemotherapy. She received a matched sibling donor unconditioned stem cell infusion at 16 months of age. The post-transplant course was uneventful. Blood PCR became negative for CMV. Global hypotonia persisted, although with significant improvement in irritability. At 4 years of age and 29 months post-transplant, the patient demonstrated normal T-lymphocyte and natural killer cell numbers. Recent thymic emigrants represented 12% of the total T

  2. Response to 'A relational approach to Saviour Siblings?' by Selgelid.

    Science.gov (United States)

    Taylor-Sands, Michelle

    2016-10-01

    In his concise argument, 'A relational approach to saviour siblings?', Selgelid reiterates some of the arguments raised in the author meets critics discussion of my book, Saviour Siblings In this response, I highlight an important misunderstanding in one of the arguments put forward by Selgelid, which forms the basis of a large portion of his analysis. Contrary to what Selgelid contends, I do not use the deafness case in my discussion of the non-identity problem to contend that the case of selecting for deafness is ethically different from the case of saviour siblings. As I state in my reply, I use the case of deafness not as a comparator for saviour siblings but rather to illustrate the different categories of risk that apply in selection cases Given this confusion, I restate my objection to relying on the non-identity problem in evaluating risk of harm associated with the embryo biopsy process for preimplantation genetic diagnosis. Finally, I reiterate that the individual interests of saviour siblings remain important in the decision-making matrix and emphasise that Saviour Siblings offers a more contextualised approach to the welfare of the child in selective reproduction, which includes both individual and collective interests. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  3. HLA-G in human reproduction

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F

    2005-01-01

    The non-classical human leukocyte antigen (HLA) class Ib genes, HLA-E, -G and -F, are located on chromosome 6 in the human major histocompatibility complex (MHC). HLA class Ib antigens resemble the HLA class Ia antigens in many ways, but several major differences have been described. This review ...... transplantation and in inflammatory or autoimmune disease, and of HLA-G in an evolutionary context, are also briefly examined....

  4. Adult sibling experience, roles, relationships and future concerns - a review of the literature in learning disabilities.

    Science.gov (United States)

    Davys, Deborah; Mitchell, Duncan; Haigh, Carol

    2011-10-01

    This paper provides a review of the literature related to adult siblings of learning-disabled people. Siblings of learning-disabled people are often looked upon as next of kin when older parents die; however, there is little research regarding sibling views and wishes. A literature review of published peer-reviewed empirical research was undertaken. Electronic databases and citation tracking were used to collate data using key terms such as adult siblings and learning disability. Relevant articles were analysed, compared and contrasted. Six key themes emerged suggesting a varied impact of learning disability upon sibling lives in areas that include life choices, relationships, identity and future plans. Some siblings report a positive impact upon life, others state their lives are comparable with other adults who do not have a learning-disabled sibling and others still report a negative impact. Sibling roles and relationships are varied. Evidence suggests that sibling roles, relationships and experience are affected by life stage. Parents often have a primary care role for the disabled person, whilst siblings perform a more distant role; however, sibling involvement often rises when parents are no longer able to provide previous levels of support. Many factors appear to affect the sibling experience and uptake of roles including gender, life stage and circumstances, level of disability, health status and relationships between family members. Siblings are concerned about the future, particularly when parents are no longer able to provide support, and many appear to have expectations of future responsibilities regarding their disabled sibling. As siblings of people who have a learning disability are often expected by society to provide support, it is important that health and social care practitioners are aware of issues that may impact on this relationship. © 2011 Blackwell Publishing Ltd.

  5. Establishment of HLA-DR4 transgenic mice for the identification of CD4+ T cell epitopes of tumor-associated antigens.

    Directory of Open Access Journals (Sweden)

    Junji Yatsuda

    Full Text Available Reports have shown that activation of tumor-specific CD4(+ helper T (Th cells is crucial for effective anti-tumor immunity and identification of Th-cell epitopes is critical for peptide vaccine-based cancer immunotherapy. Although computer algorithms are available to predict peptides with high binding affinity to a specific HLA class II molecule, the ability of those peptides to induce Th-cell responses must be evaluated. We have established HLA-DR4 (HLA-DRA*01:01/HLA-DRB1*04:05 transgenic mice (Tgm, since this HLA-DR allele is most frequent (13.6% in Japanese population, to evaluate HLA-DR4-restricted Th-cell responses to tumor-associated antigen (TAA-derived peptides predicted to bind to HLA-DR4. To avoid weak binding between mouse CD4 and HLA-DR4, Tgm were designed to express chimeric HLA-DR4/I-E(d, where I-E(d α1 and β1 domains were replaced with those from HLA-DR4. Th cells isolated from Tgm immunized with adjuvant and HLA-DR4-binding cytomegalovirus-derived peptide proliferated when stimulated with peptide-pulsed HLA-DR4-transduced mouse L cells, indicating chimeric HLA-DR4/I-E(d has equivalent antigen presenting capacity to HLA-DR4. Immunization with CDCA155-78 peptide, a computer algorithm-predicted HLA-DR4-binding peptide derived from TAA CDCA1, successfully induced Th-cell responses in Tgm, while immunization of HLA-DR4-binding Wilms' tumor 1 antigen-derived peptide with identical amino acid sequence to mouse ortholog failed. This was overcome by using peptide-pulsed syngeneic bone marrow-derived dendritic cells (BM-DC followed by immunization with peptide/CFA booster. BM-DC-based immunization of KIF20A494-517 peptide from another TAA KIF20A, with an almost identical HLA-binding core amino acid sequence to mouse ortholog, successfully induced Th-cell responses in Tgm. Notably, both CDCA155-78 and KIF20A494-517 peptides induced human Th-cell responses in PBMCs from HLA-DR4-positive donors. Finally, an HLA-DR4 binding DEPDC1191

  6. When Your "Problem" Becomes Mine: Adult Female Siblings' Perspectives of Having a Brother with a Disability

    Science.gov (United States)

    Pompeo, Michelle N.

    2009-01-01

    This study is a retrospective look at adult female siblings' perspectives of their childhoods and present identities based on having a brother with a disability. This paper focuses on siblings' experiences within educational and public domains, and how such experiences have shaped their personalities and career choices. Qualitative findings were…

  7. Siblings' personality traits and types of sibling relationship in childhood

    Directory of Open Access Journals (Sweden)

    Tina Kavčič

    2011-01-01

    Full Text Available The contribution presents a follow-up study of sibling relationship and personality in 87 sibling dyads in early/middle childhood from parental perspective. At Time 1 all siblings attended pre-school and one year later approximately half of the older siblings entered compulsory school. At both times of measurement siblings' mothers and fathers independently reported on their children's personality characteristics using the Inventory of Child Individual Differences (Halverson et al., 2003; Slovene adaptation, Zupančič & Kavčič, 2009 and on the observed sibling warmth, agonism, and rivalry using the Parental Expectations and Perceptions of Children's Sibling Relationships Questionnaire (Kramer, 2001. The predictive relationship obtained by two sets of cross-rater analyses (between maternal ratings of child personality and paternal reports on sibling relationship, and vice versa suggested that (a personality traits of both siblings and (b the match between siblings' personalities are associated with sibling type (affectionate, involved or average membership. Among personality traits, disagreeableness seems to be an especially significant contributor to sibling relationship quality.

  8. My sister's keeper?: genomic research and the identifiability of siblings

    Directory of Open Access Journals (Sweden)

    Kohane Isaac S

    2008-07-01

    Full Text Available Abstract Background Genomic sequencing of SNPs is increasingly prevalent, though the amount of familial information these data contain has not been quantified. Methods We provide a framework for measuring the risk to siblings of a patient's SNP genotype disclosure, and demonstrate that sibling SNP genotypes can be inferred with substantial accuracy. Results Extending this inference technique, we determine that a very low number of matches at commonly varying SNPs is sufficient to confirm sib-ship, demonstrating that published sequence data can reliably be used to derive sibling identities. Using HapMap trio data, at SNPs where one child is homozygotic major, with a minor allele frequency ≤ 0.20, (N = 452684, 65.1% we achieve 91.9% inference accuracy for sibling genotypes. Conclusion These findings demonstrate that substantial discrimination and privacy risks arise from use of inferred familial genomic data.

  9. Can Non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes?

    Science.gov (United States)

    Steck, Andrea K; Xu, Ping; Geyer, Susan; Redondo, Maria J; Antinozzi, Peter; Wentworth, John M; Sosenko, Jay; Onengut-Gumuscu, Suna; Chen, Wei-Min; Rich, Stephen S; Pugliese, Alberto

    2017-08-01

    Genome-wide association studies identified >50 type 1 diabetes (T1D) associated non-human leukocyte antigens (non-HLA) loci. The purpose of this study was to assess the contribution of non-HLA single nucleotide polymorphisms (SNPs) to risk of disease progression. The TrialNet Pathway to Prevention Study follows relatives of T1D patients for development of autoantibodies (Abs) and T1D. Using the Immunochip, we analyzed 53 diabetes-associated, non-HLA SNPs in 1016 Ab-positive, at-risk non-Hispanic white relatives. Effect of SNPs on the development of multiple Abs and T1D. Cox proportional analyses included all substantial non-HLA SNPs, HLA genotypes, relationship to proband, sex, age at initial screening, initial Ab type, and number. Factors involved in progression from single to multiple Abs included age at screening, relationship to proband, HLA genotypes, and rs3087243 (cytotoxic T lymphocyte antigen-4). Significant factors for diabetes progression included age at screening, Ab number, HLA genotypes, rs6476839 [GLIS family zinc finger 3 (GLIS3)], and rs3184504 [SH2B adaptor protein 3 (SH2B3)]. When glucose area under the curve (AUC) was included, factors involved in disease progression included glucose AUC, age at screening, Ab number, relationship to proband, HLA genotypes, rs6476839 (GLIS3), and rs7221109 (CCR7). In stratified analyses by age, glucose AUC, age at screening, sibling, HLA genotypes, rs6476839 (GLIS3), and rs4900384 (C14orf64) were significantly associated with progression to diabetes in participants <12 years old, whereas glucose AUC, sibling, rs3184504 (SH2B3), and rs4900384 (C14orf64) were significant in those ≥12. In conclusion, we identified five non-HLA SNPs associated with increased risk of progression from Ab positivity to disease that may improve risk stratification for prevention trials. Copyright © 2017 by the Endocrine Society

  10. HLA-B27 Test

    Science.gov (United States)

    ... Malhotra, P. et. al. (Updated 2015 December 30) Immunology of Transplant Rejection. Medscape Reference. Available online at http://emedicine.medscape.com/article/432209-overview#showall. Accessed February 2017. (© 2017). HLA ...

  11. Polymorphism of HLA in the Romanian population.

    Science.gov (United States)

    Reed, E; Ho, E; Lupu, F; McManus, P; Vasilescu, R; Foca-Rodi, A; Suciu-Foca, N

    1992-01-01

    We have investigated the HLA-class I and class II polymorphism in a population of 83 Romanians using conventional serology together with PCR amplification and oligonucleotide typing of HLA-class II genes. Romanians show a higher frequency of HLA-A11, B13, B18, B37, B39, B51 and DR2 than other European populations. HLA-DRB1*1501 and 1601 account for the high frequency of the serologic specificity DR2. In Romanians, HLA-DR2 is in linkage disequilibrium with HLA-B18 and HLA-Bw52 rather than with HLA-B7 as in the case in other Europeans. Unexpected HLA-DR2 haplotypes include HLA-DRB1*1502, DQA1*0102, DQB1*0601; HLA-DRB1*1602, DQA1*0102, DQB1*0502. Other unusual haplotypes include HLA-DRB1*0405, DQA1*03, DQB1*0302; HLA-DRB1*1305, DQA1*0103, DQB1*0603; and HLA-DRB1*1405, DQA1*0101, DQB1*05032. Analysis of the genetic distance between Romanians and other Europeans who have been studied serologically are consistent with the hypothesis that Romanians descend from Roman ancestors who colonized Dacia between the 1st century B.C. and 1st century A.D.

  12. Relevance of MICA and other non-HLA antibodies in clinical transplantation.

    Science.gov (United States)

    Sumitran-Holgersson, Suchitra

    2008-10-01

    The clinical importance of HLA-specific antibodies for organ allograft outcome is well established. In the past few years, there has been an increasing interest in non-HLA antigens as targets of injury in organ transplant recipients. This increased interest has been spurred by the fact that HLA-identical kidney transplants also undergo immunological rejections. Polymorphisms within non-HLA genes associated with evoking an immune response to alloantigens are currently being studied for their association with transplant outcome. Non-HLA antigens, such as the polymorphic MHC class I-related chain A (MICA), expressed on endothelial cells have been implicated in the pathogenesis of hyperacute, acute and chronic organ allograft rejections. Use of endothelial cells as targets may clarify the specificities of other clinically relevant non-HLA antibodies in graft rejections. This review summarizes past and current knowledge of the clinical importance and specificities of non-HLA antibodies, and mechanisms by which these antibodies may contribute to graft destruction in clinical transplantation. The aims of current research into the role of non-HLA antigens and their genetics in predicting outcome are to develop an improved insight into the basic science of transplantation and to develop a risk or prognostic index for use in the clinical setting. Non-HLA antibody responses are receiving increasing interest in acute and chronic rejection and specificity, affinity, and pathogenicity need to be investigated to estimate their contribution. Undoubtedly, this will continue to be an area of interest in terms of fully understanding the role of non-HLA antigens as targets of immune-mediated injury and the potential for clinical intervention.

  13. Theoretical Perspectives on Sibling Relationships

    Science.gov (United States)

    Whiteman, Shawn D.; McHale, Susan M.; Soli, Anna

    2011-01-01

    Although siblings are a fixture of family life, research on sibling relationships lags behind that on other family relationships. To stimulate interest in sibling research and to serve as a guide for future investigations by family scholars, we review four theoretical psychologically oriented perspectives—(a) psychoanalytic-evolutionary, (b) social psychological, (c) social learning, and (d) family-ecological systems—that can inform research on sibling relationships, including perspectives on the nature and influences on developmental, individual, and group differences in sibling relationships. Given that most research on siblings has focused on childhood and adolescence, our review highlights these developmental periods, but we also incorporate the limited research on adult sibling relationships, including in formulating suggestions for future research on this fundamental family relationship. PMID:21731581

  14. Sibling influences on prosocial behavior.

    Science.gov (United States)

    Hughes, Claire; McHarg, Gabrielle; White, Naomi

    2018-04-01

    Sibling relationships are characterized by familiarity and emotional intensity. Alongside frequent shared play, sibling interactions feature complementary interactions (e.g. teaching, caregiving) reflecting age-related asymmetries in socio-cognitive skills. These aspects may underpin sibling influences on prosocial behavior: theoretical accounts of social influences on prosocial behavior highlight emotion sharing, goal alignment, the intrinsically rewarding nature of social interaction, and scaffolding of social norms. Taking a fine-grained approach to prosocial behavior, we examine these processes in relation to sibling influences on children's comforting, sharing, and helping. Emergent themes include: developmental change in the nature of sibling influences on prosocial behavior, the need to consider sibling influences in the wider family context, and the importance of individual differences in the quality of sibling relationships. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. The Genotype of the Donor for the (GTn Polymorphism in the Promoter/Enhancer of FOXP3 Is Associated with the Development of Severe Acute GVHD but Does Not Affect the GVL Effect after Myeloablative HLA-Identical Allogeneic Stem Cell Transplantation.

    Directory of Open Access Journals (Sweden)

    Víctor Noriega

    Full Text Available The FOXP3 gene encodes for a protein (Foxp3 involved in the development and functional activity of regulatory T cells (CD4+/CD25+/Foxp3+, which exert regulatory and suppressive roles over the immune system. After allogeneic stem cell transplantation, regulatory T cells are known to mitigate graft versus host disease while probably maintaining a graft versus leukemia effect. Short alleles (≤(GT15 for the (GTn polymorphism in the promoter/enhancer of FOXP3 are associated with a higher expression of FOXP3, and hypothetically with an increase of regulatory T cell activity. This polymorphism has been related to the development of auto- or alloimmune conditions including type 1 diabetes or graft rejection in renal transplant recipients. However, its impact in the allo-transplant setting has not been analyzed. In the present study, which includes 252 myeloablative HLA-identical allo-transplants, multivariate analysis revealed a lower incidence of grade III-IV acute graft versus host disease (GVHD in patients transplanted from donors harboring short alleles (OR = 0.26, CI 0.08-0.82, p = 0.021; without affecting chronic GVHD or graft versus leukemia effect, since cumulative incidence of relapse, event free survival and overall survival rates are similar in both groups of patients.

  16. Analysis of HLA-A, HLA-B, HLA-DRB1 allelic, genotypic, and haplotypic frequencies in colombian population

    OpenAIRE

    Yazmin Rocío Árias-Murillo; Miguel Ángel Castro-Jiménez; María Fernanda Ríos-Espinosa; Juan Javier López-Rivera; Sandra Johanna Echeverry-Coral; Oscar Martínez-Nieto

    2010-01-01

    Introduction: The high polymorphism of the HLA system allows its typification to be used as valuable tool in establishing association to various illnesses, immune and genetic profiles; it also provides a guide to identifying compatibility among donors and receptors of organs transplants. Objective: To establish HLA-A, HLA-B, and HLA.DRB1 allele, genotype and haplotype frequencies among patients treated at Clinica Colsanitas SA. Methods: 561 patients coming from different regions in Col...

  17. Therapeutic preparations of IVIg contain naturally occurring anti-HLA-E antibodies that react with HLA-Ia (HLA-A/-B/-Cw) alleles.

    Science.gov (United States)

    Ravindranath, Mepur H; Terasaki, Paul I; Pham, Tho; Jucaud, Vadim; Kawakita, Satoru

    2013-03-14

    The US Food and Drug Administration approved intravenous immunoglobulin (IVIg), extracted from the plasma of thousands of blood donors, for removing HLA antibodies (Abs) in highly sensitized patients awaiting organ transplants. Since the blood of healthy individuals has HLA Abs, we tested different IVIg preparations for reactivity to HLA single antigen Luminex beads. All preparations showed high levels of HLA-Ia and -Ib reactivity. Since normal nonalloimmunized males have natural antibodies to the heavy chains (HCs) of HLA antigens, the preparations were then tested against iBeads coated only with intact HLA antigens. All IVIg preparations varied in level of antibody reactivity to intact HLA antigens. We raised monoclonal Abs against HLA-E that mimicked IVIg's HLA-Ia and HLA-Ib reactivity but reacted only to HLA-I HCs. Inhibition experiments with synthetic peptides showed that HLA-E shares epitopes with HLA-Ia alleles. Importantly, depleting anti-HLA-E Abs from IVIg totally eliminated the HLA-Ia reactivity of IVIg. Since anti-HLA-E mAbs react with HLA-Ia, they might be useful in suppressing HLA antibody production, similar to the way anti-RhD Abs suppress production. At the same time, anti-HLA-E mAb, which reacts only to HLA-I HCs, is unlikely to produce transfusion-related acute lung injury, in contrast to antibodies reacting to intact-HLA.

  18. Peptide Binding to HLA Class I Molecules: Homogenous, High-Throughput Screening, and Affinity Assays

    DEFF Research Database (Denmark)

    Harndahl, Mikkel; Justesen, Sune Frederik Lamdahl; Lamberth, Kasper

    2009-01-01

    , better signal-to-background ratios, and a higher capacity. They also describe an efficient approach to screen peptides for binding to HLA molecules. For the occasional user, this will serve as a robust, simple peptide-HLA binding assay. For the more dedicated user, it can easily be performed in a high-throughput...... the luminescent oxygen channeling immunoassay technology (abbreviated LOCI and commercialized as AlphaScreen (TM)). Compared with an enzyme-linked immunosorbent assay-based peptide-HLA class I binding assay, the LOCI assay yields virtually identical affinity measurements, although having a broader dynamic range...... screening mode using standard liquid handling robotics and 384-well plates. We have successfully applied this assay to more than 60 different HLA molecules, leading to more than 2 million measurements. (Journal of Biomolecular Screening 2009: 173-180)...

  19. Conflict Resolution between Mexican Origin Adolescent Siblings

    Science.gov (United States)

    Killoren, Sarah E.; Thayer, Shawna M.; Updegraff, Kimberly A.

    2008-01-01

    We investigated correlates of adolescents' sibling conflict resolution strategies in 246, two-parent Mexican origin families. Specifically, we examined links between siblings' conflict resolution strategies and sibling dyad characteristics, siblings' cultural orientations and values, and sibling relationship qualities. Data were gathered during…

  20. Template Driven Code Generator for HLA Middleware

    NARCIS (Netherlands)

    Jansen, R.E.J.; Prins, L.M.; Huiskamp, W.

    2007-01-01

    HLA is the accepted standard for simulation interoperability. However, the HLA services and the API that is provided for these services are relatively complex from the user point of view. Since the early days of HLA, federate developers have attempted to simplify their task by using middleware that

  1. The Risk of Transplant Failure With HLA Mismatch in First Adult Kidney Allografts 2: Living Donors, Summary, Guide.

    Science.gov (United States)

    Williams, Robert C; Opelz, Gerhard; Weil, E Jennifer; McGarvey, Chelsea J; Chakkera, Harini A

    2017-05-01

    Allografts from living donors survive longer than those from deceased donors but the role of HLA mismatching in living kidney donation is still in question. We examined the effect of HLA compatibility on kidney allograft survival from living donors by studying all first adult kidney transplants performed in the United States over 25 years. Using the United Network for Organ Sharing data, we identified first kidney transplants between October 1, 1987, and December 31, 2013. Recipients were classified by their number of HLA mismatches and stratified by donor origin. Cox multivariate regression analyses adjusting for recipient and donor transplant characteristics were performed to determine impact of HLA compatibility on kidney allograft survival for all living donors and for living related and living unrelated subsets. There were 66 596 first adult transplants from living donors with 348 960 years of follow-up. We found a linear relationship between HLA mismatch and allograft survival. In adjusted analyses, among all living donors, 1 mismatch conferred a 44% higher risk, whereas 6 mismatches conferred a twofold higher risk of allograft failure. When using 0-mismatched full siblings as a reference, living-donor kidneys reduce the hazard of failure by approximately 34% when compared with deceased donors. Twenty-five years of transplant experience, stratified by donor source, was summarized and presented as a guide for allocation. These data reinforce the importance of optimizing HLA matching to further improve survival in first adult kidney allografts in the future, especially in living unrelated donations, when possible.

  2. Donor-specific Anti-HLA antibodies in allogeneic hematopoietic stem cell transplantation

    Directory of Open Access Journals (Sweden)

    Sarah Morin-Zorman

    2016-08-01

    Full Text Available Allogeneic Hematopoietic Stem Cell Transplantation (AHSCT is a curative treatment for a wide variety of hematological diseases. In 30% of the cases, a geno-identical donor is available. Any other situation displays some level of Human Leukocyte Antigen (HLA incompatibility between donor and recipient. Deleterious effects of anti-HLA immunization have long been recognized in solid organ transplant recipients. More recently, anti-HLA immunization was shown to increase the risk of Primary Graft Failure (PGF, a severe complication of AHSCT that occurs in 3 to 4% of matched unrelated donor transplantation and up to 15% in cord blood transplantation and T-cell depleted haplo-identical stem cell transplantation. Rates of PGF in patients with DSA were reported to be between 24 to 83% with the highest rates in haplo-identical and cord blood transplantation recipients. This led to the recommendation of anti-HLA antibody screening to detect Donor Specific Antibodies (DSA in recipients prior to AHSCT. In this review, we highlight the role of anti-HLA antibodies in AHSCT and the mechanisms that may lead to PGF in patients with DSA, and discuss current issues in the field.

  3. Outcome of children with acute leukemia given HLA-haploidentical HSCT after αβ T-cell and B-cell depletion.

    Science.gov (United States)

    Locatelli, Franco; Merli, Pietro; Pagliara, Daria; Li Pira, Giuseppina; Falco, Michela; Pende, Daniela; Rondelli, Roberto; Lucarelli, Barbarella; Brescia, Letizia Pomponia; Masetti, Riccardo; Milano, Giuseppe Maria; Bertaina, Valentina; Algeri, Mattia; Pinto, Rita Maria; Strocchio, Luisa; Meazza, Raffaella; Grapulin, Lavinia; Handgretinger, Rupert; Moretta, Alessandro; Bertaina, Alice; Moretta, Lorenzo

    2017-08-03

    Allogeneic hematopoietic stem cell transplantation (HSCT) from an HLA-haploidentical relative (haplo-HSCT) is a suitable option for children with acute leukemia (AL) either relapsed or at high-risk of treatment failure. We developed a novel method of graft manipulation based on negative depletion of αβ T and B cells and conducted a prospective trial evaluating the outcome of children with AL transplanted with this approach. Eighty AL children, transplanted between September 2011 and September 2014, were enrolled in the trial. All children were given a fully myeloablative preparative regimen. Anti-T-lymphocyte globulin from day -5 to -3 was used for preventing graft rejection and graft-versus-host disease (GVHD); no patient received any posttransplantation GVHD prophylaxis. Two children experienced primary graft failure. The cumulative incidence of skin-only, grade 1-2 acute GVHD was 30%; no patient developed extensive chronic GVHD. Four patients died, the cumulative incidence of nonrelapse mortality being 5%, whereas 19 relapsed, resulting in a 24% cumulative incidence of relapse. With a median follow-up of 46 months for surviving patients, the 5-year probability of chronic GVHD-free, relapse-free survival (GRFS) is 71%. Total body irradiation-containing preparative regimen was the only variable favorably influencing relapse incidence and GRFS. The outcomes of these 80 patients are comparable to those of 41 and 51 children given transplantation from an HLA-identical sibling or a 10/10 allelic-matched unrelated donor in the same period. These data indicate that haplo-HSCT after αβ T- and B-cell depletion represents a competitive alternative for children with AL in need of urgent allograft. This trial was registered at www.clinicaltrials.gov as #NCT01810120. © 2017 by The American Society of Hematology.

  4. HLA typing in systemic sclerosis

    Directory of Open Access Journals (Sweden)

    M. Faré

    2011-09-01

    Full Text Available Objective: the aim of the study was to investigate the relationship between Systemic Sclerosis (SSc and HLA antigens, and to correlate these antigens with the clinical manifestations of the disease. Materials and methods: 55 patients were stratified according a to the cutaneous involvement b to the positivity of Scl- 70 and anticentromere antibody and c to the internal organ involvement, in particular we used HRCT to demonstrate lung fibrosis, echocardiography for the diagnosis of pulmonary hypertension, blood creatinine, urinalysis and arterial hypertension to demonstrate renal failure, and esophagus double-countrast barium swallow for the diagnosis of esophagopathy. The control group consisting of 2000 healthy Caucasian subjects was recruited from the same population. Results: the frequency of the antigens A23 (p=0.003, RR=3.69, B18 (p<0.0001, RR=3.57, and DR11 (p<0.0001, RR=6.18 was statistically increased in the patients population compared with the healthy controls. Although there is no any significant correlation between HLA antigens and different clinical subsets of scleroderma, antigens B18 and DR11 could be associated with more severe clinical features. Conclusions: the presence of a significant association between SSc and specific HLA antigens (A23, B18, and DR11 could link the HLA system with SSc.

  5. Sibling Relationships in Early Childhood.

    Science.gov (United States)

    Dunn, Judy

    1983-01-01

    Reviews and considers the developmental implications of recent evidence on the nature of sibling interaction from observational studies of preschool children. Argues that, in contrast to complementary interaction, sibling influence is most plausibly associated with reciprocal interaction and with sociocognitive development. (Author/RH)

  6. [Siblings of prepubesecent anorexic children].

    Science.gov (United States)

    Noël, L; de Maynadier, L

    2014-10-01

    As professionals working in a specialised unit for prepubescent anorexic children, we are very often concerned with the siblings of our young patients who are daily faced with anorexia nervosa. Although it is an undeniable subject of prevention, research on the topic remains scarce. Based on our clinical experience, this article thus proposes to give a few landmarks to health professionals likely to support these siblings in order to prevent anxious and depressive disorders as well as eating disorders. If guided, supported and informed on anorexia nervosa, siblings can adopt adequate coping strategies when confronted to their sibling's anorexic cognitions and behaviours. We also encourage parents to pay close attention to the needs of their other children, especially to remain receptive to the youngest ones or, if unavailable to find adult carers (grandparents, family, friends). We also guide these children, who are eager to help their anorexic sibling, to remain in a brotherly role. Siblings must be informed about anorexia nervosa. Such information enables them to have a better understanding of their sister's thoughts and attitudes. It also leads to a better understanding of the reasons why anorexia has such a significant impact on family routine, among other things by reducing parental availability. Beyond enabling siblings to adopt adequate coping strategies, such provision of support also contributes to the prevention of mental illness and the maintenance of adequate sibling and family relationships. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Children with Autism & Their Siblings

    Science.gov (United States)

    Cancro, Ralph

    2008-01-01

    The parent of the child with autism is faced with many home management challenges, not the least of which is the achievement of intra-family harmony among siblings. Sibling rivalry occurs in all families. However, the presence of a child with autism may, in some instances, intensify this rivalry. In this article, the author provides tips for…

  8. Sibling Status Effects: Adult Expectations.

    Science.gov (United States)

    Baskett, Linda Musun

    1985-01-01

    This study attempted to determine what expectations or beliefs adults might hold about a child based on his or her sibling status alone. Ratings on 50 adjective pairs for each of three sibling status types, only, oldest, and youngest child, were assessed in relation to adult expectations, birth order, and parental status of rater. (Author/DST)

  9. HIV control through a single nucleotide on the HLA-B locus

    DEFF Research Database (Denmark)

    Kløverpris, Henrik N; Harndahl, Mikkel; Leslie, Alasdair J

    2012-01-01

    Genetic variation within the HLA-B locus has the strongest impact on HIV disease progression of any polymorphisms within the human genome. However, identifying the exact mechanism involved is complicated by several factors. HLA-Bw4 alleles provide ligands for NK cells and for CD8 T cells, and str......Genetic variation within the HLA-B locus has the strongest impact on HIV disease progression of any polymorphisms within the human genome. However, identifying the exact mechanism involved is complicated by several factors. HLA-Bw4 alleles provide ligands for NK cells and for CD8 T cells......:02, which differ by only a single amino acid. Crucially, they occur primarily on identical HLA class I haplotypes and, as Bw6 alleles, do not act as NK cell ligands and are therefore largely unconfounded by other genetic factors. We show that in an outbred cohort (n = 2,093) of HIV C......-clade-infected individuals, a single amino acid change at position 9 of the HLA-B molecule critically affects peptide binding and significantly alters the cytotoxic T lymphocyte (CTL) epitopes targeted, measured directly ex vivo by gamma interferon (IFN-γ) enzyme-linked immunospot (ELISPOT) assay (P = 2 × 10...

  10. Is sibling rivalry fatal?: siblings and mortality clustering.

    Science.gov (United States)

    Kippen, Rebecca; Walters, Sarah

    2012-01-01

    Evidence drawn from nineteenth-century Belgian population registers shows that the presence of similarly aged siblings competing for resources within a household increases the probability of death for children younger than five, even when controlling for the preceding birth interval and multiple births. Furthermore, in this period of Belgian history, such mortality tended to cluster in certain families. The findings suggest the importance of segmenting the mortality of siblings younger than five by age group, of considering the presence of siblings as a time-varying covariate, and of factoring mortality clustering into analyses.

  11. Structural Features of Sibling Dyads and Attitudes toward Sibling Relationships in Young Adulthood

    Science.gov (United States)

    Riggio, Heidi R.

    2006-01-01

    This study examined sibling-dyad structural variables (sex composition, age difference, current coresidence, position adjacency, family size, respondent and/or sibling ordinal position) and attitudes toward adult sibling relationships. A sample of 1,053 young adults (M age = 22.1 years) described one sibling using the Lifespan Sibling Relationship…

  12. Intergenerational Solidarity and Support Between Adult Siblings

    NARCIS (Netherlands)

    Voorpostel, Marieke; Blieszner, Rosemary

    2008-01-01

    Using a Dutch national sample containing 1,259 triads (two siblings, one parent), we examined whether practical support and emotional support between siblings are enhanced by intergenerational solidarity and how this differs for brothers and sisters. Sibling support was affected by sibling dyad

  13. Relative Power in Sibling Relationships across Adolescence

    Science.gov (United States)

    Lindell, Anna K.; Campione-Barr, Nicole

    2017-01-01

    During childhood, older siblings typically hold a more powerful position in their relationship with their younger siblings, but these relationships are thought to become more egalitarian during adolescence as siblings begin to prepare for their relationships as adults and as younger siblings become more socially and cognitively competent. Little…

  14. Sibling Self-Disclosure in Early Adolescence.

    Science.gov (United States)

    Howe, Nina; Aquan-Assee, Jasmin; Bukowski, William M.; Rinaldi, Christina M.; Lehoux, Pascale M.

    2000-01-01

    Studied sibling-directed self-disclosure of 40 preadolescents through interviews, a questionnaire, and subjects' daily diaries. Found that warmth in sibling relationship was most strongly associated with sibling disclosure, but not with rivalry, conflict, or power. Daily sibling disclosures were more strongly associated with reports of unhappy…

  15. Childhood Sibling Relationships of Eminent Canadian Women.

    Science.gov (United States)

    Yewchuk, Carolyn R.; Schlosser, Grace A.

    1996-01-01

    This study compared differences between 72 eminent Canadian women who reported close sibling relationships and 72 similar women who reported no close sibling relationships. Those with close siblings expressed their responsibility within the relationship and rivalry within the sibship. Those not close to siblings often blamed this on age…

  16. HLA typing in acute optic neuritis

    DEFF Research Database (Denmark)

    Frederiksen, J L; Madsen, H O; Ryder, L P

    1997-01-01

    OBJECTIVE: To study the association of brain magnetic resonance imaging (MRI) findings and HLA findings to clarify the relationship between monosymptomatic optic neuritis (ON) and ON as part of clinically definite multiple sclerosis (CDMS). DESIGN: Population-based cohort of patients with ON refe......OBJECTIVE: To study the association of brain magnetic resonance imaging (MRI) findings and HLA findings to clarify the relationship between monosymptomatic optic neuritis (ON) and ON as part of clinically definite multiple sclerosis (CDMS). DESIGN: Population-based cohort of patients......: The frequency of HLA-DR15 was significantly increased in patients with ON + CDMS (52%) and ON (47%) compared with control subjects (31%). The frequency of HLA-DR17 was almost equal in the ON + CDMS (18%), ON (23%), and control (23%) groups. The frequencies of HLA-DQA-1B (55% in ON + CDMS, 58% in ON) and HLA...

  17. Class II HLA interactions modulate genetic risk for multiple sclerosis

    Science.gov (United States)

    Dilthey, Alexander T; Xifara, Dionysia K; Ban, Maria; Shah, Tejas S; Patsopoulos, Nikolaos A; Alfredsson, Lars; Anderson, Carl A; Attfield, Katherine E; Baranzini, Sergio E; Barrett, Jeffrey; Binder, Thomas M C; Booth, David; Buck, Dorothea; Celius, Elisabeth G; Cotsapas, Chris; D’Alfonso, Sandra; Dendrou, Calliope A; Donnelly, Peter; Dubois, Bénédicte; Fontaine, Bertrand; Fugger, Lars; Goris, An; Gourraud, Pierre-Antoine; Graetz, Christiane; Hemmer, Bernhard; Hillert, Jan; Kockum, Ingrid; Leslie, Stephen; Lill, Christina M; Martinelli-Boneschi, Filippo; Oksenberg, Jorge R; Olsson, Tomas; Oturai, Annette; Saarela, Janna; Søndergaard, Helle Bach; Spurkland, Anne; Taylor, Bruce; Winkelmann, Juliane; Zipp, Frauke; Haines, Jonathan L; Pericak-Vance, Margaret A; Spencer, Chris C A; Stewart, Graeme; Hafler, David A; Ivinson, Adrian J; Harbo, Hanne F; Hauser, Stephen L; De Jager, Philip L; Compston, Alastair; McCauley, Jacob L; Sawcer, Stephen; McVean, Gil

    2016-01-01

    Association studies have greatly refined the understanding of how variation within the human leukocyte antigen (HLA) genes influences risk of multiple sclerosis. However, the extent to which major effects are modulated by interactions is poorly characterized. We analyzed high-density SNP data on 17,465 cases and 30,385 controls from 11 cohorts of European ancestry, in combination with imputation of classical HLA alleles, to build a high-resolution map of HLA genetic risk and assess the evidence for interactions involving classical HLA alleles. Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*03:01, HLA-DRB1*08:01 and HLA-DQB1*03:02) and class I protective alleles (HLA-A*02:01, HLA-B*44:02, HLA-B*38:01 and HLA-B*55:01), we find evidence for two interactions involving pairs of class II alleles: HLA-DQA1*01:01–HLA-DRB1*15:01 and HLA-DQB1*03:01–HLA-DQB1*03:02. We find no evidence for interactions between classical HLA alleles and non-HLA risk-associated variants and estimate a minimal effect of polygenic epistasis in modulating major risk alleles. PMID:26343388

  18. Describing the Peptide Binding Specificity of HLA-C

    DEFF Research Database (Denmark)

    Rasmussen, Michael; Harndahl, Mikkel Nors; Nielsen, Morten

    for 5 HLA-C molecules and for all, but one, molecule we find a high frequency of binders, >70%, among these peptides. To extend the examined peptide space, we use bioinformatic prediction tools to search for additional binders. Finally, we update our prediction tool, NetMHCpan, with the HLA-C affinity......Human leukocyte antigen (HLA) presents peptides to T-cells for immune scrutiny. Whereas HLA-A and -B have been described in great detail, HLA-C has received much less attention. Here, to increase the coverage of HLA-C and the accuracy of the corresponding tools, we have generated HLA-C molecules...... data and show that the predictive performance for HLA-C molecules now is increased to a level comparable withthat of HLA-A and -B. These novel HLA-C molecules and predictors are successfully used to generate HLA-C tetramers and validate HLA-C-restricted T cell responses....

  19. Influence of HLA-C Expression Level on HIV Control

    Science.gov (United States)

    Apps, Richard; Qi, Ying; Carlson, Jonathan M.; Chen, Haoyan; Gao, Xiaojiang; Thomas, Rasmi; Yuki, Yuko; Del Prete, Greg Q.; Goulder, Philip; Brumme, Zabrina L.; Brumme, Chanson J.; John, Mina; Mallal, Simon; Nelson, George; Bosch, Ronald; Heckerman, David; Stein, Judy L.; Soderberg, Kelly A.; Moody, M. Anthony; Denny, Thomas N.; Zeng, Xue; Fang, Jingyuan; Moffett, Ashley; Lifson, Jeffrey D.; Goedert, James J.; Buchbinder, Susan; Kirk, Gregory D.; Fellay, Jacques; McLaren, Paul; Deeks, Steven G.; Pereyra, Florencia; Walker, Bruce; Michael, Nelson L.; Weintrob, Amy; Wolinsky, Steven; Liao, Wilson; Carrington, Mary

    2013-01-01

    A variant upstream of human leukocyte antigen C (HLA-C) shows the most significant genome-wide effect on HIV control in European Americans and is also associated with the level of HLA-C expression. We characterized the differential cell surface expression levels of all common HLA-C allotypes and tested directly for effects of HLA-C expression on outcomes of HIV infection in 5243 individuals. Increasing HLA-C expression was associated with protection against multiple outcomes independently of individual HLA allelic effects in both African and European Americans, regardless of their distinct HLA-C frequencies and linkage relationships with HLA-B and HLA-A. Higher HLA-C expression was correlated with increased likelihood of cytotoxic T lymphocyte responses and frequency of viral escape mutation. In contrast, high HLA-C expression had a deleterious effect in Crohn’s disease, suggesting a broader influence of HLA expression levels in human disease. PMID:23559252

  20. Perceived sibling relationships of sexual minority youth.

    Science.gov (United States)

    Toomey, Russell B; Richardson, Rhonda A

    2009-01-01

    The purpose of this study was to examine the relationships of sexual minority youth and their siblings. The participants were 56 lesbian, gay, bisexual, or transgender individuals ranging in age from 18 to 24 years, who reported information about a total of 107 siblings. Respondents completed a demographic data questionnaire as well as adapted versions of the Sibling Closeness Scale (SCS) and the Sibling Approval of Sexual Behavior Scale (SASBS) to describe their relationship with each of their siblings. Analyses examined birth order and gender in relation to outness to siblings as well as sibling closeness and approval. Results provide information about disclosure of LGBT status to siblings, elements of closeness and acceptance in sibling relationships of sexual minority youth, and the significance of gender and birth order in these sibling relationships.

  1. HL-A27 and anterior uveitis.

    Science.gov (United States)

    Woodrow, J C; Mapstone, R; Anderson, J; Usher, N

    1975-09-01

    HL-A types were determined in 90 successive patients with non-granulomatous uveitis. Fifty-one were HL-A27 positive (55.7%) compared to 8.2% of controls. Of 16 patients with ankylosing spondylitis, 13 were HL-A27 positive, as were two patients with a history of Reiter's syndrome. Twenty-eight patients were HL-A27 positive but had no evidence of rheumatic disease. The findings are discussed in relation to the possible pathogenesis of uveitis.

  2. Naxos Disease in Two Siblings

    Science.gov (United States)

    Meera, G; Prabhavathy, D; Jayakumar, S; Tharini, GK

    2010-01-01

    Naxos disease is a rare cardiocutaneous disorder characterized by palmoplantar keratoderma, woolly hair and arrythmogenic right ventricular cardiomyopathy. We report two siblings with Naxos disease with right middle lobe syndrome in one of them. PMID:21188028

  3. HLA-G allelic variants are associated with differences in the HLA-G mRNA isoform profile and HLA-G mRNA levels

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F; Hylenius, Sine; Rørbye, Christina

    2003-01-01

    between mother and fetus in several ways. Finally, the expression of membrane-bound HLA-G and soluble HLA-G has been proposed to influence the outcome of pregnancy, and an aberrant HLA-G expression in pre-eclamptic placentas and spontaneous abortions has been reported. Here, an association between certain...... HLA-G polymorphisms and the mRNA levels of the different alternatively spliced HLA-G isoforms in first trimester trophoblast cell populations is reported. Several alternatively spliced HLA-G mRNA isoforms, including a 14-bp polymorphism in the 3'UTR end (exon 8) of the HLA-G gene, are expressed...

  4. HLA-DQA1 and HLA-DQB1 allele diversity and its extended haplotypes in Madeira Island (Portugal).

    Science.gov (United States)

    Spínola, H; Lemos, A; Couto, A R; Parreira, B; Soares, M; Dutra, I; Bruges-Armas, J; Brehm, A

    2017-02-01

    This study shows, for the first time, high-resolution allele frequencies of HLA-DQA1 loci in Madeira Island (Portugal) and allows us to better understand and refine present knowledge on DQB1 variation, with the identification of several alleles not previously reported in this population. Estimates on haplotype profile, involving HLA-A, HLA-B, HLA-DRB1, HLA-DQA1 and HLA-DQB1, are also reported. © 2016 John Wiley & Sons Ltd.

  5. DIFFERENTIAL IMPACT OF HLA-A, HLA-B AND HLA-DR COMPATIBILITY ON THE RENAL ALLOGRAFT SURVIVAL

    Directory of Open Access Journals (Sweden)

    V. Y. Abramov

    2012-01-01

    Full Text Available We studied the long-term results of 532 deceased donor kidney transplantations to investigate the impact of HLA match on the survival of renal allograft. All transplants were performed in our center in 1996–2009 and moni- tored prospectively for 1–14 years. We found, the survival of 58 kidneys grafted with 0–2 mismatch for HLA- ABDR to be significantly better (Plogrank = 0,016 than the survival of the kidneys grafted with 3–6 HLA-ABDR mismatch. The full compatibility for HLA-A (n = 75 did not influence the long-term survival (Plogrank = 0,48. The absence of HLA-DR mismatch had a beneficial effect for survival of 68 kidneys (Plogrank = 0,07. Eighteen cases with the full HLA-B compatibility between graft and recipient demonstrated excellent long-term survival (Plogrank = 0,007. HLA-B compatibility influenced significantly (P = 0,042 the survival of transplanted kidney in the Cox regression model adjusted for donor and recipient age, panel-reactive antibody level, re-transplant, and immunosuppression protocol. The data obtained support the conclusion, that HLA compatibility should be one of the criteria of deceased donor kidney allocation. 

  6. HLA restriction of non-HLA-A, -B, -C and -D cell mediated lympholysis (CML)

    International Nuclear Information System (INIS)

    Goulmy, E.; Termijtelen, A.; Bradley, B.A.; Rood, J.J. van

    1976-01-01

    The aim of our study was to define target determinations other than those coded for by the classical HLA-A, -B, -C or -D loci which were responsible for killing in CML. In one of the families studied, strong evidence was found for the existence of a determinant coded for within the HLA region. CML was restricted to targets carrying the classical HLA-Bw35 and Cw4 determinants but the targets were neither HLA-Bw35 nor Cw4 themselves. We therefore concluded that this new HLA determinant was either the product of a new locus closely associated with HLA-B or that it was a product of the classical HLA-B locus which has not been recognized by serology. (author)

  7. Superior outcome using cyclosporin A alone versus cyclosporin A plus methotrexate for post-transplant immunosuppression in children with acute leukemia undergoing sibling hematopoietic stem cell transplantation.

    Science.gov (United States)

    Weiss, Melissa; Steinbach, Daniel; Zintl, Felix; Beck, James; Gruhn, Bernd

    2015-06-01

    The outcome of cyclosporin A (CSA) alone (n = 19) as graft-versus-host disease (GVHD) prophylaxis was compared to that of CSA combined with methotrexate (MTX) (n = 43) in children with acute leukemia who underwent hematopoietic stem cell transplantation. All respective donors were HLA-identical siblings. All patients received CSA at a dose of 3 mg/kg/day starting on day -1. A CSA level of 80-130 ng/ml was aimed for. The 43 patients in the historical control were given an additional 10 mg/m(2) dosage of MTX on days 1, 3, 6, and 11. Patients who received CSA alone had a significantly reduced cumulative incidence of relapse (5 vs. 40 %; p = 0.002), a significantly increased 5-year event-free survival (84 vs. 35 %; p = 0.001), and a significantly increased 5-year overall survival (84 vs. 42 %; p = 0.004). The incidence of acute GVHD grade II-IV and chronic GVHD in patients in the CSA group was equivalent to the CSA+MTX group (26 vs. 19 %; p = 0.440, and 32 vs. 23 %; p = 0.428). In conclusion, post-transplant immunosuppression consisting of CSA alone is well tolerated and may contribute to a superior outcome.

  8. Distinct Biomarker Profiles in Ex Vivo T Cell Depletion Graft Manipulation Strategies: CD34+ Selection versus CD3+/19+ Depletion in Matched Sibling Allogeneic Peripheral Blood Stem Cell Transplantation.

    Science.gov (United States)

    Cantilena, Caroline R; Ito, Sawa; Tian, Xin; Jain, Prachi; Chinian, Fariba; Anandi, Prathima; Keyvanfar, Keyvan; Draper, Debbie; Koklanaris, Eleftheria; Hauffe, Sara; Superata, Jeanine; Stroncek, David; Muranski, Pawel; Barrett, A John; Battiwalla, Minoo

    2018-03-01

    Various approaches have been developed for ex vivo T cell depletion in allogeneic stem cell transplantation to prevent graft-versus-host disease (GVHD). Direct comparisons of T cell depletion strategies have not been well studied, however. We evaluated cellular and plasma biomarkers in 2 different graft manipulation strategies, CD3 + CD19 + cell depletion (CD3/19D) versus CD34 + selection (CD34S), and their associations with clinical outcomes. Identical conditions, including the myeloablative preparative regimen, HLA-identical sibling donor, GVHD prophylaxis, and graft source, were used in the 2 cohorts. Major clinical outcomes were similar in the 2 groups in terms of overall survival, nonrelapse mortality, and cumulative incidence of relapse; however, the cumulative incidence of acute GVHD trended to be higher in the CD3/19D cohort compared with the CD34S cohort. A distinct biomarker profile was noted in the CD3/19D cohort: higher levels of ST2, impaired Helios - FoxP3 + Treg reconstitution, and rapid reconstitution of naïve, Th2, and Th17 CD4 cells in the early post-transplantation period. In vitro graft replication studies confirmed that CD3/19D disproportionately depleted Tregs and other CD4 subset repertoires in the graft. This study confirms the utility of biomarker monitoring, which can be directly correlated with biological consequences and possible future therapeutic indications. Published by Elsevier Inc.

  9. HLA-G and IL-10 in serum in relation to HLA-G genotype and polymorphisms

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F; Rizzo, Roberta; Christiansen, Ole B

    2004-01-01

    -mediated cell lysis and influence cytokine expression. Recently, a possible boarder immunoregulatory function of HLA-G also in adult life has been recognized. HLA-G gene polymorphism has been linked to differences in gene expression profile of alternatively spliced HLA-G transcripts and levels of specific HLA......% of the serum samples sHLA-G1/HLA-G5 could be detected. There was no correlation between sHLA-G1/HLA-G5 and IL-10 concentrations in serum. Soluble HLA-G1/HLA-G5 was not detected in any samples homozygous for a 14-bp insertion polymorphism in exon 8 of the 3'-untranslated region (3'UTR) of the HLA-G gene ( P=0...

  10. Clinicopathologic significance of HLA-G and HLA-E molecules in Tunisian patients with ovarian carcinoma.

    Science.gov (United States)

    Babay, Wafa; Ben Yahia, Hamza; Boujelbene, Nadia; Zidi, Nour; Laaribi, Ahmed Baligh; Kacem, Dhikra; Ben Ghorbel, Radhia; Boudabous, Abdellatif; Ouzari, Hadda-Imene; Rizzo, Roberta; Rebmann, Vera; Mrad, Karima; Zidi, Inès

    2018-06-01

    The human leukocyte antigen (HLA)-G and HLA-E, non classical HLA class I molecules, have been highly implicated in immune tolerance. HLA-G and HLA-E molecules were proposed as putative markers of several advanced cancers. As a step towards a better understanding of ovarian carcinoma, we evaluated the expression of both HLA-G and HLA-E molecules and explored their prognostic implication. HLA-G and HLA-E expression were studied by immunohistochemistry on ovarian carcinoma tissues. This expression was semi-quantitatively scored into four expression groups and correlated to clinicopathological parameters and patients' survival. HLA-G and HLA-E have been found to be highly expressed in ovarian carcinoma tissues (Respectively, 72.4% and 96.8%). They are frequently co-expressed. Univariate and multivariate analysis revealed that a positive HLA-G expression status in tumor tissue is a promising candidate parameter to predict disease recurrence in addition to the disease status in Tunisian patients with ovarian carcinoma. Moreover, the elevated HLA-E expression was associated with serous ovarian carcinoma subtype as well as with advanced stages of ovarian carcinoma. HLA-G and HLA-E are highly represented in ovarian carcinoma suggesting a potential association with progressive disease mechanism. HLA-G and HLA-E molecules might be new candidates' markers for ovarian carcinoma progression. Copyright © 2018 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  11. The Case for High Resolution Extended 6-Loci HLA Typing for Identifying Related Donors in the Indian Subcontinent.

    Science.gov (United States)

    Agarwal, Rajat Kumar; Kumari, Ankita; Sedai, Amit; Parmar, Lalith; Dhanya, Rakesh; Faulkner, Lawrence

    2017-09-01

    Three-loci low-resolution (LR) or intermediate-resolution HLA typing is generally considered adequate in the related blood and marrow transplantation (BMT) context. However, a single high-resolution (HR) mismatch may have a similar adverse impact on BMT outcome as an LR one. We sought to determine the frequency of mismatches that may go undetected when standard typing (LR or 3-loci HR) is used compared with 6-loci HR typing for related donor compatibility testing, and to assess its impact on relevant BMT outcomes. We analyzed data from a total of 2554 6-loci (HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1) HR sequence-based typing (full typing [FT]) from 754 patients, 1011 siblings, and 789 parents done at DKMS Germany (www.DKMS.de) between January 1, 2014, and June 21, 2016. We also studied 38 cases in which the family had undergone 3-loci HLA typing (standard typing [ST]). Patients were from India (70%), Pakistan (22%), and Sri Lanka (8%). The IMGT/HLA database (www.ebi.ac.uk/ipd/imgt/hla) was used to tease out nonpermissive DPB1 mismatches. HLA disparity-related outcomes, such as rejection and graft-versus-host disease (GVHD) were assessed in a retrospective matched-pair cohort of 50 patients (25 with ST and 25 with FT) who underwent BMT for severe thalassemia from compatible related donors. We found fully matched (either 12/12 HR matches or with a single permissive DPB1 mismatch) related donors for 285 patients (38%). Of these donors, 89% were siblings and 11% were parents. The likelihood of matching on an individual locus on LR but not on HR was found to be 5%. A total of 9 donors (3%; 7 siblings and 2 parents) who would have been considered a full match by HR typing on A, B, and DRB1 alone were not a match by extended 6-loci HR typing. Five of these 9 donors had a mismatch on C or DQB1, and 4 had a nonpermissive DPB1 mismatch. In this group, 5 donors (56%) belonged to a consanguineous family, in 2 donors (22%) there was no reported consanguinity, and in 2 donors (22

  12. Donor-derived HLA antibody production in patients undergoing SCT from HLA antibody-positive donors.

    Science.gov (United States)

    Taniguchi, K; Yoshihara, S; Maruya, E; Ikegame, K; Kaida, K; Hayashi, K; Kato, R; Inoue, T; Fujioka, T; Tamaki, H; Okada, M; Onuma, T; Fujii, N; Kusunoki, Y; Soma, T; Saji, H; Ogawa, H

    2012-10-01

    Pre-existing donor-specific HLA antibodies in patients undergoing HLA-mismatched SCT have increasingly been recognized as a risk factor for primary graft failure. However, the clinical implications of the presence of HLA antibodies in donors remain unknown. We prospectively examined 123 related donors for the presence of HLA antibodies by using a Luminex-based single antigen assay. Of these, 1/57 (1.8%) male, 6/27 (22%) parous female and 0/39 (0%) nonparous female donors were HLA antibody-positive. Then, we determined the presence of HLA antibodies in seven patients who received SCT from antibody-positive donors. Of these, four became HLA antibody-positive after SCT. The specificities of the antibodies that emerged in the patients closely resembled those of the antibodies found in the donors, indicating their production by donor-derived plasma cells. Moreover, the kinetics of the HLA antibody levels were similar in all four patients: levels started increasing within 1 week after SCT and peaked at days 10-21, followed by a gradual decrease. These results suggest that donor-derived HLA antibody production frequently occurs in patients undergoing SCT from antibody-positive donors. Further studies are warranted for clarifying the clinical significance of donor-derived HLA antibodies, including the role of these antibodies in post transplant platelet transfusion refractoriness.

  13. HLA-DR expression and disease activity in ulcerative colitis

    DEFF Research Database (Denmark)

    Poulsen, L O; Elling, P; Sørensen, Flemming Brandt

    1986-01-01

    and 3 months later. The rectal epithelial cells were HLA-DR-positive in all patients at the first two examinations. After 3 months five patients had changed to an HLA-DR-negative stage, whereas the other seven patients remained HLA-DR-positive. Closer analyses showed that expression/nonexpression of HLA...

  14. HLA-A alleles differentially associate with severity to Plasmodium ...

    African Journals Online (AJOL)

    Human Leukocyte Antigen (HLA), particularly HLA-B and class II alleles have been differentially associated with disease outcomes in different populations following infection with the malaria Plasmodium falciparum. However, the effect of HLA-A on malaria infection and/or disease is not fully understood. Recently, HLA-A ...

  15. Bullying among Siblings: The Role of Personality and Relational Variables

    Science.gov (United States)

    Menesini, Ersilia; Camodeca, Marina; Nocentini, Annalaura

    2010-01-01

    This study aimed to investigate: (1) the influence of gender, sibling age, and sibling gender on sibling bullying and victimization; (2) the links between personality characteristics, quality of the sibling relationship, and sibling bullying/victimization; (3) the association between sibling and school bullying/victimization, and the direct and…

  16. Sibling Relationships: Parent-Child Agreement and Contributions of Siblings with and without ASD

    Science.gov (United States)

    Braconnier, Megan L.; Coffman, Marika C.; Kelso, Nicole; Wolf, Julie M.

    2018-01-01

    Research on the experiences of siblings of individuals with ASD and the quality of their sibling relationships has yielded mixed results. The present study examined the significance of parent- versus child-report of both positive and negative behaviors exhibited by siblings and their brothers and sisters with ASD within sibling dyads. Findings…

  17. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    Science.gov (United States)

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  18. Characteristics and correlates of sibling relationships in two-parent African American families.

    Science.gov (United States)

    McHale, Susan M; Whiteman, Shawn D; Kim, Ji-Yeon; Crouter, Ann C

    2007-06-01

    The authors studied sibling relationships of African American youths and family and youth characteristics linked to sibling dynamics. Participants were fathers, mothers, and 2 siblings (M = 14.04 and M = 10.34 years of age) from 172 working-middle class 2-parent families. Cluster analyses of data collected in home interviews revealed 3 sibling relationship types: positive, negative, and distant. Parent education was lower, parent religiosity higher, and parent-child relationships more positive in the positive group; maternal discrimination experiences were higher in the negative group; youth ethnic identity was stronger in the positive group; and youth depression and risky behavior were higher in the negative group. The findings target sociocultural factors to consider in interventions for African American families.

  19. HLA engineering of human pluripotent stem cells.

    Science.gov (United States)

    Riolobos, Laura; Hirata, Roli K; Turtle, Cameron J; Wang, Pei-Rong; Gornalusse, German G; Zavajlevski, Maja; Riddell, Stanley R; Russell, David W

    2013-06-01

    The clinical use of human pluripotent stem cells and their derivatives is limited by the rejection of transplanted cells due to differences in their human leukocyte antigen (HLA) genes. This has led to the proposed use of histocompatible, patient-specific stem cells; however, the preparation of many different stem cell lines for clinical use is a daunting task. Here, we develop two distinct genetic engineering approaches that address this problem. First, we use a combination of gene targeting and mitotic recombination to derive HLA-homozygous embryonic stem cell (ESC) subclones from an HLA-heterozygous parental line. A small bank of HLA-homozygous stem cells with common haplotypes would match a significant proportion of the population. Second, we derive HLA class I-negative cells by targeted disruption of both alleles of the Beta-2 Microglobulin (B2M) gene in ESCs. Mixed leukocyte reactions and peptide-specific HLA-restricted CD8(+) T cell responses were reduced in class I-negative cells that had undergone differentiation in embryoid bodies. These B2M(-/-) ESCs could act as universal donor cells in applications where the transplanted cells do not express HLA class II genes. Both approaches used adeno-associated virus (AAV) vectors for efficient gene targeting in the absence of potentially genotoxic nucleases, and produced pluripotent, transgene-free cell lines.

  20. HLA Engineering of Human Pluripotent Stem Cells

    Science.gov (United States)

    Riolobos, Laura; Hirata, Roli K; Turtle, Cameron J; Wang, Pei-Rong; Gornalusse, German G; Zavajlevski, Maja; Riddell, Stanley R; Russell, David W

    2013-01-01

    The clinical use of human pluripotent stem cells and their derivatives is limited by the rejection of transplanted cells due to differences in their human leukocyte antigen (HLA) genes. This has led to the proposed use of histocompatible, patient-specific stem cells; however, the preparation of many different stem cell lines for clinical use is a daunting task. Here, we develop two distinct genetic engineering approaches that address this problem. First, we use a combination of gene targeting and mitotic recombination to derive HLA-homozygous embryonic stem cell (ESC) subclones from an HLA-heterozygous parental line. A small bank of HLA-homozygous stem cells with common haplotypes would match a significant proportion of the population. Second, we derive HLA class I–negative cells by targeted disruption of both alleles of the Beta-2 Microglobulin (B2M) gene in ESCs. Mixed leukocyte reactions and peptide-specific HLA-restricted CD8+ T cell responses were reduced in class I–negative cells that had undergone differentiation in embryoid bodies. These B2M−/− ESCs could act as universal donor cells in applications where the transplanted cells do not express HLA class II genes. Both approaches used adeno-associated virus (AAV) vectors for efficient gene targeting in the absence of potentially genotoxic nucleases, and produced pluripotent, transgene-free cell lines. PMID:23629003

  1. Sibling bereavement and continuing bonds.

    Science.gov (United States)

    Packman, Wendy; Horsley, Heidi; Davies, Betty; Kramer, Robin

    2006-11-01

    Historically, from a Freudian and medical model perspective, emotional disengagement from the deceased was seen as essential to the successful adaptation of bereavement. A major shift in the bereavement literature has occurred and it is now generally accepted that despite the permanence of physical separation, the bereaved remains involved and connected to the deceased and can be emotionally sustained through continuing bonds. The majority of literature has focused on adults and on the nature of continuing bonds following the death of a spouse. In this article, the authors demonstrate how the continuing bonds concept applies to the sibling relationship. We describe the unique continued relationship formed by bereaved children and adolescents following a sibling loss, highlight the factors that influence the siblings continuing bonds expressions, and offer clinical interventions. In our view, mental health professionals can play an important role in helping parents encourage activities that may facilitate the creation and maintenance of continuing bonds in their children.

  2. Sibling popularity: A moderator of sibling influence for adolescent substance use.

    Science.gov (United States)

    Wallace, Lacey N

    Sibling substance use is a known correlate of adolescent substance use. Yet, not all siblings are equally influential. Sibling influence has been found to vary by age gap, sex, and birth order. Little research, however, has investigated whether siblings' peer context is also a source of variation. The present study tested whether more popular siblings were more influential for adolescent use of cigarettes, alcohol, and marijuana. Data were obtained from sibling pairs in the National Longitudinal Study of Adolescent Health. Findings indicate that older siblings have more influence on younger sibling marijuana use when they have more friends. These findings contribute to prior work examining which siblings are more influential and highlight the need to consider siblings as part of a greater peer context.

  3. Life Events, Sibling Warmth, and Youths' Adjustment

    Science.gov (United States)

    Waite, Evelyn B.; Shanahan, Lilly; Calkins, Susan D.; Keane, Susan P.; O'Brien, Marion

    2011-01-01

    Sibling warmth has been identified as a protective factor from life events, but stressor-support match-mismatch and social domains perspectives suggest that sibling warmth may not efficiently protect youths from all types of life events. We tested whether sibling warmth moderated the association between each of family-wide, youths' personal, and…

  4. Sibling curves of quadratic polynomials | Wiggins | Quaestiones ...

    African Journals Online (AJOL)

    Sibling curves were demonstrated in [1, 2] as a novel way to visualize the zeroes of real valued functions. In [3] it was shown that a polynomial of degree n has n sibling curves. This paper focuses on the algebraic and geometric properites of the sibling curves of real and complex quadratic polynomials. Key words: Quadratic ...

  5. Relative Power in Sibling Relationships Across Adolescence.

    Science.gov (United States)

    Lindell, Anna K; Campione-Barr, Nicole

    2017-06-01

    During childhood, older siblings typically hold a more powerful position in their relationship with their younger siblings, but these relationships are thought to become more egalitarian during adolescence as siblings begin to prepare for their relationships as adults and as younger siblings become more socially and cognitively competent. Little is known about relationship factors that may explain this shift in power dynamics, however. The present study therefore examined longitudinal changes in adolescents' and their siblings' perceptions of sibling relative power from age 12 to 18 (n = 145 dyads), and examined whether different levels of sibling relationship positivity and negativity, as well as sibling structural variables, indicated different over-time changes in relative power. Multilevel models indicated that adolescents reported significant declines in their siblings' relative power across adolescence, with older siblings relinquishing the most power over time. However, only siblings with less positively involved relationships reported declines in relative power, suggesting that siblings who maintain highly involved relationships may not become more egalitarian during adolescence. © 2017 Wiley Periodicals, Inc.

  6. Sibling Conflict Resolution Skills: Assessment and Training

    Science.gov (United States)

    Thomas, Brett W.; Roberts, Mark W.

    2009-01-01

    Sibling conflict can rise to the level of a clinical problem. In Phase 1 a lengthy behavioral role-play analog sampling child reactions to normal sibling conflicts was successfully shortened. In Phase 2 normal children who lacked sibling conflict resolution skills were randomly assigned to a Training or Measurement Only condition. Training…

  7. Siblings and the Development of Prosocial Behavior.

    Science.gov (United States)

    Dunn, Judy; Munn, Penny

    1986-01-01

    Examines the capability and motivation of 18- and 24-month-old infants to share, help, comfort, and cooperate with their older siblings; the frequency of such prosocial behavior by both siblings; and the children's response to sibling distress. The relationship between prosocial and conflict behavior was also studied. (HOD)

  8. Sibling Rivalry: A Parent Education Perspective.

    Science.gov (United States)

    Calladine, Carole E.

    1983-01-01

    Identifies three styles of sibling rivalry and three parent leadership styles, discussing parental mediation of sibling disputes through contracting and providing examples of group discipline techniques that facilitate development of less negative forms of rivalry and that support positive sibling bonding. (RH)

  9. Siblings and Mental Illness: Heredity vs. Environment.

    Science.gov (United States)

    Rowe, David C.; Elam, Patricia

    1987-01-01

    Siblings are far more likely to be different than alike in personality and psychopathology. Different genes and different environmental experiences can account for why one sibling becomes mentally ill and another is not affected. Environmental experiences play a much greater role in sibling differentiation than has been previously recognized.…

  10. Sibling Curves 3: Imaginary Siblings and Tracing Complex Roots

    Science.gov (United States)

    Harding, Ansie; Engelbrecht, Johann

    2009-01-01

    Visualizing complex roots of a quadratic equation has been a quest since the inception of the Argand plane in the 1800s. Many algebraic and numerical methods exist for calculating complex roots of an equation, but few visual methods exist. Following on from papers by Harding and Engelbrecht (A. Harding and J. Engelbrecht, "Sibling curves and…

  11. HLA-A, HLA-B, and HLA-DRB1 Allele and Haplotype Frequencies in Renal Transplant Candidates in a Population in Southern Brazil.

    Science.gov (United States)

    Saito, Patrícia Keiko; Yamakawa, Roger Haruki; Noguti, Erika Noda; Bedendo, Gustavo Borelli; Júnior, Waldir Veríssimo da Silva; Yamada, Sérgio Seiji; Borelli, Sueli Donizete

    2016-05-01

    Very few studies have examined the diversity of human leukocyte antigens (HLA) in the Brazilian renal transplant candidates. The frequencies of the HLA-A, HLA-B, and HLA-DRB1 alleles, haplotypes and phenotypes were studied in 522 patients with chronic renal failure, renal transplant candidates, registered at the Transplant Centers in north/northwestern Paraná State, southern Brazil. Patients were classified according to the ethnic group (319 whites [Caucasians], 134 mestizos [mixed race descendants of Europeans, Africans, and Amerindians; browns or "pardos"] and 69 blacks). The HLA typing was performed by the polymerase chain reaction sequence-specific oligonucleotide method (PCR-SSO), combined with Luminex technology. In the analysis of the total samples, 20 HLA-A, 32 HLA-B, and 13 HLA-DRB1 allele groups were identified. The most frequent allele groups for each HLA locus were HLA-A*02 (25.4%), HLA-B*44 (10.9%), and HLA-DRB1*13 (13.9%). The most frequent haplotypes were HLA-A*01-B*08-DRB1*03 (2.3%), A*02-B*44-DRB1*07 (1.2%), and A*03-B*07-DRB1*11 (1.0%). Significant differences (P < 0.05) were observed in the HLA-A*68, B*08, and B*58 allele frequencies among ethnic groups. This study provides the first data on the HLA-A, HLA-B, and HLA-DRB1 allele, phenotype and haplotype frequencies of renal transplant candidates in a population in southern Brazil. © 2015 Wiley Periodicals, Inc.

  12. What makes siblings different? The development of sibling differences in academic achievement and interests.

    Science.gov (United States)

    Jensen, Alexander C; McHale, Susan M

    2015-06-01

    To illuminate processes that contribute to the development of sibling differences, this study examined cross-lagged links between parents' beliefs about sibling differences in academic ability and differences between siblings' grade point averages (GPAs), and cross-lagged links between differences in siblings' GPAs and sibling differences in academic interests. Data were collected from mothers, fathers, firstborn youth (M age at Time 1 = 15.71, SD = 1.07), and secondborn youth (M age at Time 1 = 13.18, SD = 1.29) from 388 European American families on 3 annual occasions. Findings revealed that, after controlling for siblings' average grades and prior differences in performance, parents' beliefs about sibling differences in academic ability predicted differences in performance such that youth rated by parents as relatively more competent than their sibling earned relatively higher grades the following year. Siblings' relative school performance, however, did not predict parents' beliefs about differences between siblings' competencies. Further, after controlling for average interests and grades, sibling differences in GPA predicted differences in siblings' interests such that youth who had better grades than their siblings reported relatively stronger academic interests the following year. Differences in interest, however, did not predict sibling differences in GPA. Findings are discussed in terms the role of sibling dynamics in family socialization. (c) 2015 APA, all rights reserved).

  13. HLA-DRB1*16-restricted recognition of myeloid cells, including CD34+ CML progenitor cells

    NARCIS (Netherlands)

    Ebeling, Saskia B.; Ivanov, Roman; Hol, Samantha; Aarts, Tineke I.; Hagenbeek, Anton; Verdonck, Leo F.; Petersen, Eefke J.

    2003-01-01

    The therapeutic effect of a human leucocyte antigen (HLA)-identical allogeneic stem cell transplantation (allo-SCT) for the treatment of haematological malignancies is mediated partly by the allogeneic T cells that are administered together with the stem cell graft. Chronic myeloid leukaemia (CML)

  14. Identical Twin Primigravid Sisters -Spontaneous Labour and ...

    African Journals Online (AJOL)

    We report 2 cases of identical twin sisters, the older sibling getting married 14 months earlier but both got pregnant for their first child at about the same time and were managed by the same Obstetrician and fell into spontaneous labour within a few hours of each other. Both were delivered by emergency caesarean section ...

  15. HLA-G Haplotypes Are Differentially Associated with Asthmatic Features

    Directory of Open Access Journals (Sweden)

    Camille Ribeyre

    2018-02-01

    Full Text Available Human leukocyte antigen (HLA-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses. Unlike classical HLA molecules, HLA-G expression is not found on all somatic cells, but restricted to tissue sites, including human bronchial epithelium cells (HBEC. Individual variation in HLA-G expression is linked to its genetic polymorphism and has been associated with many pathological situations such as asthma, which is characterized by epithelium abnormalities and inflammatory cell activation. Studies reported both higher and equivalent soluble HLA-G (sHLA-G expression in different cohorts of asthmatic patients. In particular, we recently described impaired local expression of HLA-G and abnormal profiles for alternatively spliced isoforms in HBEC from asthmatic patients. sHLA-G dosage is challenging because of its many levels of polymorphism (dimerization, association with β2-microglobulin, and alternative splicing, thus many clinical studies focused on HLA-G single-nucleotide polymorphisms as predictive biomarkers, but few analyzed HLA-G haplotypes. Here, we aimed to characterize HLA-G haplotypes and describe their association with asthmatic clinical features and sHLA-G peripheral expression and to describe variations in transcription factor (TF binding sites and alternative splicing sites. HLA-G haplotypes were differentially distributed in 330 healthy and 580 asthmatic individuals. Furthermore, HLA-G haplotypes were associated with asthmatic clinical features showed. However, we did not confirm an association between sHLA-G and genetic, biological, or clinical parameters. HLA-G haplotypes were phylogenetically split into distinct groups, with each group displaying particular variations in TF binding or RNA splicing sites that could reflect differential HLA-G qualitative or quantitative expression, with tissue-dependent specificities. Our results, based on a

  16. HLA-B*39:06 Efficiently Mediates Type 1 Diabetes in a Mouse Model Incorporating Reduced Thymic Insulin Expression.

    Science.gov (United States)

    Schloss, Jennifer; Ali, Riyasat; Racine, Jeremy J; Chapman, Harold D; Serreze, David V; DiLorenzo, Teresa P

    2018-04-09

    Type 1 diabetes (T1D) is characterized by T cell-mediated destruction of the insulin-producing β cells of the pancreatic islets. Among the loci associated with T1D risk, those most predisposing are found in the MHC region. HLA-B*39:06 is the most predisposing class I MHC allele and is associated with an early age of onset. To establish an NOD mouse model for the study of HLA-B*39:06, we expressed it in the absence of murine class I MHC. HLA-B*39:06 was able to mediate the development of CD8 T cells, support lymphocytic infiltration of the islets, and confer T1D susceptibility. Because reduced thymic insulin expression is associated with impaired immunological tolerance to insulin and increased T1D risk in patients, we incorporated this in our model as well, finding that HLA-B*39:06-transgenic NOD mice with reduced thymic insulin expression have an earlier age of disease onset and a higher overall prevalence as compared with littermates with typical thymic insulin expression. This was despite virtually indistinguishable blood insulin levels, T cell subset percentages, and TCR Vβ family usage, confirming that reduced thymic insulin expression does not impact T cell development on a global scale. Rather, it will facilitate the thymic escape of insulin-reactive HLA-B*39:06-restricted T cells, which participate in β cell destruction. We also found that in mice expressing either HLA-B*39:06 or HLA-A*02:01 in the absence of murine class I MHC, HLA transgene identity alters TCR Vβ usage by CD8 T cells, demonstrating that some TCR Vβ families have a preference for particular class I MHC alleles. Copyright © 2018 by The American Association of Immunologists, Inc.

  17. Bullying in the family: sibling bullying.

    Science.gov (United States)

    Wolke, Dieter; Tippett, Neil; Dantchev, Slava

    2015-10-01

    Sibling relationships have a substantial and lasting effect on children's development. Many siblings experience some occasional conflict, however, up to 40% are exposed to sibling bullying every week, a repeated and harmful form of intrafamilial aggression. We review evidence on the precursors, factors relating to peer bullying, and mental health consequences of sibling bullying. Parenting quality and behaviour are the intrafamilial factors most strongly associated with bullying between siblings. Sibling bullying increases the risk of being involved in peer bullying, and is independently associated with concurrent and early adult emotional problems, including distress, depression, and self-harm. The effects appear to be cumulative, with those children bullied by both siblings and peers having highly increased emotional problems compared with those bullied by siblings or peers only, probably because they have no safe place to escape from bullying. The link between sibling and peer bullying suggests interventions need to start at home. Health professionals should ask about sibling bullying and interventions are needed for families to prevent and reduce the health burden associated with sibling bullying. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. HLA Typing and Celiac Disease in Moroccans

    Directory of Open Access Journals (Sweden)

    Daniela Piancatelli

    2017-01-01

    Full Text Available Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and haplotypes could be clinically relevant. Celiac disease (CD has been fast increasing in prevalence in North Africa; but few immunogenetic data are available for this area, in which a high prevalence of the disease has been described. In this report, we assess and discuss results of HLA class II (HLA-DQA1/DQB1/DRB1 typing in Moroccan patients with CD and compare them with a control population from Morocco—genetically well characterized—and with other North African, Mediterranean, and European populations. The classical HLA-DQ associations were confirmed in Moroccans with CD. The high frequency of DQ2.5 homozygosity (45.2% found in Moroccans with CD was noteworthy as compared with other populations (23%–32%. The genetic risk gradient for CD, identified by previous studies, has been confirmed in Moroccans with some differences, mainly concerning DQ8 genotypes. This study provides the immunogenetic framework of CD in Moroccans and confirms the need to learn more about associations with additional HLA and non-HLA genetic factors.

  19. HLA-C and guttate psoriasis.

    Science.gov (United States)

    Mallon, E; Bunce, M; Savoie, H; Rowe, A; Newson, R; Gotch, F; Bunker, C B

    2000-12-01

    Psoriasis is a heterogeneous disease in its clinical expression. Both genetic and environmental factors are thought to contribute to the pathogenesis of the inflammatory and hyperproliferative components of the typical skin lesions. Predisposing genetic influences include associations with human leucocyte antigens (HLA) of which that with HLA-Cw6 is the strongest. Guttate psoriasis is a specific clinical manifestation of psoriasis frequently associated with group A beta-haemolytic streptococcal throat infection. We set out to determine whether further clinical subdivision of psoriasis is associated with tighter correlation with HLA-C alleles. We determined the HLA-C locus genotype of 29 caucasian patients with guttate psoriasis presenting consecutively with guttate psoriasis associated with a history of a sore throat and/or an antistreptolysin O titre > 200 IU mL-1. Polymerase chain reaction typing using sequence-specific primers was used to detect all known HLA-C alleles. These data were compared with a control population of 604 random caucasian cadaver donors. All patients (100%) with guttate psoriasis carried the Cw*0602 allele compared with 20% of the control population (odds ratio = infinity; 95% confidence limits 25.00-infinity; Pcorrected < 0.0000002). This result is consistent with HLA-Cw*0602 playing a part directly in the pathogenesis of guttate psoriasis.

  20. HLA-B27 subtypes among the Chukotka native groups

    International Nuclear Information System (INIS)

    Krylov, M.Y.; Alexeeva, L.I.; Erdesz, S.; Benevolenskaya, L.I.; Reveille, J.D.; Arnett, F.C.

    1995-01-01

    The purpose of this study was to assess the relative frequency of the known HLA-B27 subtypes in HLA-B27 positive Chukotka natives, which have higher frequencies of HLA-B27 (to 40%) and spondylarthropathies (to 2%) than the Russian Caucasian population. Using oligotyping of the polymerase-chain reaction amplified second and third exons of the HLA-B27 gene in 86 DNA samples from HLA-B27 positive individuals were successfully typed. All had HLA-B*2705, including 4 patients with Reiter's syndrome and 5 with ankylosing spondyloarthritis, except one Eskimo who had HLA-B*2702. None had HLA-B*2704, a frequent subtype in Orientals. With respect to HLA-B27 subtypes the indigenous populations from the eastern part of the Chukotka Peninsula are genetically more closely related to Caucasians than to Orientals. (author). 18 refs, 1 fig., 2 tabs

  1. HLA-B27 subtypes among the Chukotka native groups

    Energy Technology Data Exchange (ETDEWEB)

    Krylov, M.Y.; Alexeeva, L.I.; Erdesz, S.; Benevolenskaya, L.I. [Akademiya Meditsinskikh Nauk SSSR, Moscow (Russian Federation). Inst. Revmatizma; Reveille, J.D.; Arnett, F.C. [Texas Univ., Houston, TX (United States). Health Science Center

    1995-12-31

    The purpose of this study was to assess the relative frequency of the known HLA-B27 subtypes in HLA-B27 positive Chukotka natives, which have higher frequencies of HLA-B27 (to 40%) and spondylarthropathies (to 2%) than the Russian Caucasian population. Using oligotyping of the polymerase-chain reaction amplified second and third exons of the HLA-B27 gene in 86 DNA samples from HLA-B27 positive individuals were successfully typed. All had HLA-B*2705, including 4 patients with Reiter`s syndrome and 5 with ankylosing spondyloarthritis, except one Eskimo who had HLA-B*2702. None had HLA-B*2704, a frequent subtype in Orientals. With respect to HLA-B27 subtypes the indigenous populations from the eastern part of the Chukotka Peninsula are genetically more closely related to Caucasians than to Orientals. (author). 18 refs, 1 fig., 2 tabs.

  2. HLA class Ib in pregnancy and pregnancy-related disorders.

    Science.gov (United States)

    Persson, Gry; Melsted, Wenna Nascimento; Nilsson, Line Lynge; Hviid, Thomas Vauvert F

    2017-08-01

    The HLA class Ib genes, HLA-E, HLA-F, and HLA-G, were discovered long after the classical HLA class Ia genes. The elucidation of their functions had a modest beginning. However, their basic functions and involvement in pathophysiology and a range of diseases are now emerging. Although results from a range of studies support the functional roles for the HLA class Ib molecules in adult life, especially HLA-G and HLA-F have most intensively been, and were also primarily, studied in relation to reproduction and pregnancy. The expression of HLA class Ib proteins at the feto-maternal interface in the placenta seems to be important for the maternal acceptance of the semi-allogenic fetus. In contrast to the functions of HLA class Ia, HLA-G possesses immune-modulatory and tolerogenic functions. Here, we review an accumulating amount of data describing the functions of HLA class Ib molecules in relation to fertility, reproduction, and pregnancy, and a possible role for these molecules in certain pregnancy complications, such as implantation failure, recurrent spontaneous abortions, and pre-eclampsia. The results from different kinds of studies point toward a role for HLA class Ib, especially HLA-G, throughout the reproductive cycle from conception to the birth weight of the child.

  3. Attachment to the Romantic Partner and Sibling: Attachment Hierarchies of Twins and Non-Twin Siblings

    Directory of Open Access Journals (Sweden)

    Sascha Schwarz

    2015-12-01

    Full Text Available Previous studies have shown that romantic partners and siblings are important attachment figures. This study compares the attachment to the romantic partner with the attachment to the sibling as a function of the participant’s sibling type among monozygotic (MZ twins, dizygotic (DZ twins, and non-twin (NT siblings. The results show that MZ twins prefer their sibling to their romantic partner whereas DZ twins are equally attached to their sibling and romantic partner. In contrast, NT siblings are more attached to their romantic partner compared to their sibling. These results indicate that genetic relatedness has profound impact on a person’s attachment hierarchy and the relative rank of the romantic partner and the sibling.

  4. Establishing the role of pre-implantation genetic diagnosis with human leucocyte antigen typing: what place do "saviour siblings" have in paediatric transplantation?

    Science.gov (United States)

    Samuel, G N; Strong, K A; Kerridge, I; Jordens, C F C; Ankeny, R A; Shaw, P J

    2009-04-01

    Not all children in need of a haematopoietic stem cell transplant have a suitable relative or unrelated donor available. Recently, in vitro fertilisation (IVF) with pre-implantation genetic diagnosis (PGD) for human leucocyte antigen (HLA) tissue typing has been used to selectively transfer an IVF embryo in order to produce a child who may provide umbilical cord blood for transplantation to an ill sibling. Such children are sometimes called "saviour siblings". To examine the published clinical and epidemiological evidence relevant to the use of this technology, with the aim of clarifying those situations where IVF and PGD for HLA typing should be discussed with parents of an ill child. A critical analysis of published literature on comparative studies of umbilical cord blood versus other sources of stem cells for transplantation; comparative studies of matched unrelated donor versus matched related donor transplantation; and the likelihood of finding an unrelated stem cell donor. IVF and PGD for HLA typing is only applicable when transplantation is non-urgent and parents are of reproductive age. Discussions regarding this technology may be appropriate where no suitable related or unrelated donor is available for a child requiring a transplant, or where no suitable related donor is available and transplantation is only likely to be entertained with a matched sibling donor. Discussion may also be considered in the management of any child lacking a matched related donor who requires a non-urgent transplant or may require a transplant in the future.

  5. Siblings exposed to intimate partner violence: linking sibling relationship quality & child adjustment problems.

    Science.gov (United States)

    Piotrowski, Caroline C; Tailor, Ketan; Cormier, Damien C

    2014-01-01

    Although the majority of families that experience intimate partner violence (IPV) have more than one child, most research to date has focused upon a single child within these families. A significant body of research has indicated siblings play an important role in children's adjustment and well-being. To address this gap, the three main goals of the present study were to compare the adjustment of older and younger siblings exposed to IPV, to describe and compare the quality of these sibling relationships from multiple perspectives, and to investigate how sibling adjustment and relationship quality influence children's adjustment. Forty-seven sibling pairs and their mothers were recruited from the community. Mothers self-reported on their violent experiences using the Conflict Tactics Scale, and also estimated the length of time their children were exposed to IPV. Mothers and children completed assessments of child adjustment and the quality of sibling relationships. Observers also assessed the quality of sibling interaction. Results indicated that adjustment between siblings was highly inter-related. On average, mothers reported sibling relationships as less positive but also as less hostile than did siblings themselves. Higher levels of sibling hostility, lower levels of sibling warmth and higher levels of disengagement each significantly predicted child adjustment; however, these effects were predicated upon the adjustment of the other sibling. The sibling relationships of children exposed to IPV made a difference in their individual adjustment, and their adjustment issues influenced how they feel about and interacted with their sibling. Sibling hostility played a stronger role in adjustment issues than sibling warmth. The nature of sibling influences and the direction of future research were discussed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. HLA-DPB1 and HLA class I confer risk of and protection from narcolepsy

    DEFF Research Database (Denmark)

    Ollila, Hanna M; Ravel, Jean-Marie; Han, Fang

    2015-01-01

    Type 1 narcolepsy, a disorder caused by a lack of hypocretin (orexin), is so strongly associated with human leukocyte antigen (HLA) class II HLA-DQA1(∗)01:02-DQB1(∗)06:02 (DQ0602) that very few non-DQ0602 cases have been reported. A known triggering factor for narcolepsy is pandemic 2009 influenza......-class-II-independent associations with HLA-A(∗)11:01 (OR = 1.32 [1.13-1.54], p = 4.92 × 10(-4)), HLA-B(∗)35:03 (OR = 1.96 [1.41-2.70], p = 5.14 × 10(-5)), and HLA-B(∗)51:01 (OR = 1.49 [1.25-1.78], p = 1.09 × 10(-5)) were also seen across ethnic groups in the HLA class I region. These effects might reflect modulation...... of autoimmunity or indirect effects of HLA class I and HLA-DP alleles on response to viral infections such as that of influenza....

  7. Human leukocyte antigen (HLA)-G during pregnancy part I

    DEFF Research Database (Denmark)

    Klitkou, Louise; Dahl, Mette; Hviid, Thomas Vauvert F

    2015-01-01

    Human leukocyte antigen (HLA)-G is a class Ib molecule with restricted tissue distribution expressed on trophoblast cells and has been proposed to have immunomodulatory functions during pregnancy. Soluble HLA-G1 (sHLA-G1) can be generated by the shedding of membrane-bound HLA-G molecules; however...... of importance for production of sHLA-G in the mother and child, or it may support the theory that sHLA-G in the pregnant woman and the fetus is partly derived from a "shared organ", the placenta....

  8. Cytotoxic T cell recognition of an endogenous class I HLA peptide presented by a class II HLA molecule.

    Science.gov (United States)

    Chen, B P; Madrigal, A; Parham, P

    1990-09-01

    Human leukocytes were stimulated in vitro with peptides corresponding in sequence to the highly variable helix of the alpha 1 domain of various HLA-B and -C molecules. A CD4+ CD8- cytotoxic T cell line, CTL-AV, that is specific for the HLA-B7 peptide presented by HLA-DR11.1 was obtained. The HLA-DR11.2 molecule, which only differs at three residues from HLA-DR11.1, did not present the HLA-B7 peptide to CTL-AV. Peptides from the alpha 1 domain helix of other HLA-A and HLA-B molecules, but not HLA-C molecules, competed with the HLA-B7 peptide for binding to HLA-DR11.1. A cell line (WT50) that coexpresses HLA-B7 and HLA-DR11.1 was killed by CTL-AV in the absence of any added HLA-B7 peptide. The processing and presentation of HLA-B7 in these cells appears to be through the endogenous, and not the exogenous, pathway of antigen presentation. Thus, Brefeldin A inhibits presentation and chloroquine does not. Furthermore, introduction of purified HLA-B7 molecules into HLA-DR11.1+, HLA-B7- cells by cytoplasmic loading via osmotic lysis of pinosomes, but not by simple incubation, rendered them susceptible to CTL-AV killing. These results provide an example of class II major histocompatibility complex (MHC) presentation of a constitutively synthesized self protein that uses the endogenous pathway of antigen presentation. They also emphasize the capacity for presentation of MHC peptides by MHC molecules.

  9. Sibling rivalry: related bacterial small RNAs and their redundant and non-redundant roles.

    Science.gov (United States)

    Caswell, Clayton C; Oglesby-Sherrouse, Amanda G; Murphy, Erin R

    2014-01-01

    Small RNA molecules (sRNAs) are now recognized as key regulators controlling bacterial gene expression, as sRNAs provide a quick and efficient means of positively or negatively altering the expression of specific genes. To date, numerous sRNAs have been identified and characterized in a myriad of bacterial species, but more recently, a theme in bacterial sRNAs has emerged: the presence of more than one highly related sRNAs produced by a given bacterium, here termed sibling sRNAs. Sibling sRNAs are those that are highly similar at the nucleotide level, and while it might be expected that sibling sRNAs exert identical regulatory functions on the expression of target genes based on their high degree of relatedness, emerging evidence is demonstrating that this is not always the case. Indeed, there are several examples of bacterial sibling sRNAs with non-redundant regulatory functions, but there are also instances of apparent regulatory redundancy between sibling sRNAs. This review provides a comprehensive overview of the current knowledge of bacterial sibling sRNAs, and also discusses important questions about the significance and evolutionary implications of this emerging class of regulators.

  10. Sibling rivalry: Related bacterial small RNAs and their redundant and non-redundant roles

    Directory of Open Access Journals (Sweden)

    Clayton eCaswell

    2014-10-01

    Full Text Available Small RNA molecules (sRNAs are now recognized as key regulators controlling bacterial gene expression, as sRNAs provide a quick and efficient means of positively or negatively altering the expression of specific genes. To date, numerous sRNAs have been identified and characterized in a myriad of bacterial species, but more recently, a theme in bacterial sRNAs has emerged: the presence of more than one highly related sRNAs produced by a given bacterium, here termed sibling sRNAs. Sibling sRNAs are those that are highly similar at the nucleotide level, and while it might be expected that sibling sRNAs exert identical regulatory functions on the expression of target genes based on their high degree of relatedness, emerging evidence is demonstrating that this is not always the case. Indeed, there are several examples of bacterial sibling sRNAs with non-redundant regulatory functions, but there are also instances of apparent regulatory redundancy between sibling sRNAs. This review provides a comprehensive overview of the current knowledge of bacterial sibling sRNAs, and also discusses important questions about the significance and evolutionary implications of this emerging class of regulators.

  11. Gamete donation: parents' experiences of searching for their child's donor siblings and donor.

    Science.gov (United States)

    Freeman, T; Jadva, V; Kramer, W; Golombok, S

    2009-03-01

    This study investigates the new phenomenon of parents of donor offspring searching for and contacting their child's 'donor siblings' (i.e. donor offspring conceived by the same donor) and donor. Online questionnaires were completed by 791 parents (39% lone-mother, 35% lesbian-couple, 21% heterosexual-couple, 5% non-specified) recruited via the Donor Sibling Registry; a US-based international registry that facilitates contact between donor conception families who share the same donor. Data were collected on parents' reasons for searching for their child's donor siblings and/or donor, the outcome of these searches and parents' and their child's experiences of any resulting contact. Parents' principal motivation for searching for their child's donor siblings was curiosity and for their donor, enhancing their child's sense of identity. Some parents had discovered large numbers of donor siblings (maximum = 55). Most parents reported positive experiences of contacting and meeting their child's donor siblings and donor. This study highlights that having access to information about a child's donor origins is important for some parents and has potentially positive consequences. These findings have wider implications because the removal of donor anonymity in the UK and elsewhere means that increasing numbers of donor offspring are likely to seek contact with their donor relations in the future.

  12. And What About Siblings? A Longitudinal Analysis of Sibling Effects on Youth's Intergroup Attitudes.

    Science.gov (United States)

    Eckstein, Katharina; Šerek, Jan; Noack, Peter

    2018-02-01

    Within the process of political socialization, the family is of particular importance. Apart from parents, however, little is known about the role of other close family members. The present study examined if siblings affect each other's intergroup attitudes (i.e., intolerance towards immigrants, social dominance orientation). Drawing on a sample of 362 sibling dyads (older siblings: M age  = 17.77, 53.6% female; younger siblings: M age  = 13.61, 61.3% female), the results showed that older siblings' intergroup attitudes predicted younger siblings' attitudes, but this effect was moderated by gender. Specifically, older siblings' intolerance and social dominance orientation were only found to affect their younger sisters, yet not their younger brothers. Although younger siblings' intergroup attitudes had no main effect on older siblings, a significant moderation by age indicated that younger siblings affected older siblings' social dominance orientation with increasing age. These moderation effects of age and gender were not mediated by the quality of family relationships. The findings also remained the same when parental intergroup attitudes were taken into account. While siblings were generally identified as an important agent of political socialization in youth, the results also highlight the necessity to further examine the mechanism that either facilitate or hinder sibling effects.

  13. Presence of HLA-B27 is associated with changes of serum levels of mediators of the Wnt and hedgehog pathway.

    Science.gov (United States)

    Aschermann, Sarah; Englbrecht, Matthias; Bergua, Antonio; Spriewald, Bernd M; Said-Nahal, Rhula; Breban, Maxime; Schett, Georg; Rech, Jürgen

    2016-01-01

    HLA-B27 is present in 5% of the Caucasian population and is strongly associated with the development of spondyloarthritis (SpA), a disease characterized by inflammation and substantial bone changes. We hypothesized that the presence of HLA-B27 in itself is associated with alterations of key regulatory of bone homeostasis. Sera of 241 individuals were assessed for the serum levels of Wnt pathway regulators, sclerostin and dickkopf (Dkk)-1 as well as Indian hedgehog (IHH) and collagen type I cleavage products (CTX1). Of the 151 HLA-B27+ subjects, 31 had SpA, 30 had anterior uveitis, 30 were healthy individuals and 60 healthy siblings of patients with SpA. Sclerostin levels were significantly (P<0.001) lower in HLA-B27+ subjects (314±21pg/mL) compared to HLA-B27 negative controls (mean±SEM: 492±30pg/mL), no matter if subjects were either healthy, or affected by SpA or uveitis. Similar results were found for Dkk-1. No differences between the groups with respect to the bone resorption marker CTX1 were found. In contrast, IHH levels were significantly (P<0.001) higher in the carriers of HLA-B27 than in the negative controls. Changes in key regulators of the Wnt pathway as well as IHH, a molecule regulating endochondral ossification, are found in HLA-B27 carriers, independent if they were healthy or affected by uveitis or SpA. Copyright © 2015 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

  14. Mechanisms of Sibling Socialization in Normative Family Development

    Science.gov (United States)

    Whiteman, Shawn D.; Becerra, Julia M.; Killoren, Sarah E.

    2009-01-01

    Siblings are important sources of social influence throughout childhood and adolescence. Nevertheless, the processes by which siblings influence one another remain relatively unexplored. We highlight two theories of sibling influence--sibling deidentification and social learning--that offer insights as to how and why siblings develop similar and…

  15. Personality traits and sibling relationships in emerging adults.

    Science.gov (United States)

    Lanthier, Richard P

    2007-04-01

    Associations between the Big Five personality traits of siblings and the quality of sibling relationships were examined in a sample of 115 college students and one of their older siblings. Big Five traits, as assessed by Goldberg's 100 adjective markers, predicted a large amount of the variability in sibling Warmth and Conflict. Agreeableness was the most consistent predictor of positive sibling outcomes.

  16. Sibling relationships in individuals with Angelman syndrome: A comparative study

    NARCIS (Netherlands)

    Love, V.; Richters, L.P.H.; Didden, H.C.M.; Korzilius, H.P.L.M.; Machalicek, W.A.

    2012-01-01

    Objective: Investigating the impact of Angelman syndrome on the sibling relationship. Methods: This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n 44). Sibling relationships were

  17. Enhancing sibling relationships to prevent adolescent problem behaviors: theory, design and feasibility of Siblings Are Special.

    Science.gov (United States)

    Feinberg, Mark E; Sakuma, Kari-Lyn; Hostetler, Michelle; McHale, Susan M

    2013-02-01

    Siblings play a significant but neglected role in family socialization dynamics, and focusing on the sibling relationship is a non-stigmatizing point of entry into the family for prevention programming. Siblings are Special (SAS) was designed as a universal program that targets both sibling relationship and parenting mediating processes in middle childhood to prevent behavior problems in adolescence. We describe the theoretical framework underlying SAS, the SAS curriculum, and the feasibility of the program based on a study of 128 middle-childhood aged sibling dyads. Data on the quality of program implementation, program fidelity, siblings' engagement, and ratings of impact indicated the SAS program was acceptable to families and schools, that the curriculum could be implemented with high fidelity, that siblings and parents participated at high levels and were highly engaged, and that, from the perspective of group leaders, school administrators and parents, the program had a positive impact on the siblings. Copyright © 2012 Elsevier Ltd. All rights reserved.

  18. Self-Representations in Early Adolescence: Variations in Sibling Similarity by Sex Composition and Sibling Relationship Qualities

    Science.gov (United States)

    Gamble, Wendy C.; Card, Noel A.; Yu, Jeong Jin

    2010-01-01

    Self-representations play an important role in adolescent development. This study compared self-representations for siblings and explored whether sibling relationship characteristics are associated with similarities or differences in sibling self-concepts. We examined self-representations of 438 adolescent sibling dyads (M age younger sibling =…

  19. An initial look at sibling reports on children's behavior: comparisons with children's self-reports and relations with siblings' self-reports and sibling relationships.

    Science.gov (United States)

    Epkins, C C; Dedmon, A M

    1999-10-01

    The authors examined siblings' reports of children's depression, anxiety, and aggression, and their reports of the sibling relationship, and compared them with children's self-reports. In two samples, including 169 sibling pairs (age M = 9.98 years, SD = 1.51), no significant differences emerged in the levels of depression and anxiety found in siblings' reports of children's behavior and children's self-reports, although siblings reported children to have significantly higher levels of aggression than the children self-reported. Age, the difference in ages between siblings, sex, and sibling sex were not related to siblings' reports of children's behavior. The relations between children's and siblings' reports of children's behavior were significant, yet moderate (average r = .22). Both siblings' self-reports of internalizing behavior and their perceptions of aspects of the sibling relationship (affection, rivalry, hostility, and satisfaction with the sibling relationship) explained significant, and unique, variance in siblings' reports of children's internalizing behavior. The findings for aggressive behavior were similar, although siblings' perceptions of affection in the sibling relationship were not significantly related to their reports of children's aggression. The potential uses and benefits of sibling reports of children's behavior, and sibling and family relationships, are discussed.

  20. Extended HLA-D region haplotype associated with celiac disease

    International Nuclear Information System (INIS)

    Howell, M.D.; Smith, J.R.; Austin, R.K.; Kelleher, D.; Nepom, G.T.; Volk, B.; Kagnoff, M.F.

    1988-01-01

    Celiac disease has one of the strongest associations with HLA (human leukocyte antigen) class II markers of the known HLA-linked diseases. This association is primarily with the class II serologic specificities HLA-DR3 and -DQw2. The authors previously described a restriction fragment length polymorphism (RFLP) characterized by the presence of a 4.0-kilobase Rsa I fragment derived from an HLA class II β-chain gene, which distinguishes the class II HLA haplotype of celiac disease patients from those of many serologically matched controls. They now report the isolation of this β-chain gene from a bacteriophage genomic library constructed from the DNA of a celiac disease patient. Based on restriction mapping and differential hybridization with class II cDNA and oligonucleotide probes, this gene was identified as one encoding an HLA-DP β-chain. This celiac disease-associated HLA-DP β-chain gene was flanked by HLA-DP α-chain genes and, therefore, was probably in its normal chromosomal location. The HLA-DPα-chain genes of celiac disease patients also were studied by RFLP analysis. Celiac disease is associated with a subset of HLA-DR3, -DQw2 haplotypes characterized by HLA-DP α- and β-chain gene RFLPs. Within the celiac-disease patient population, the joint segregation of these HLA-DP genes with those encoding the serologic specificities HLA-DR3 and -DQw2 indicates: (i) that the class II HLA haplotype associated with celiac disease is extended throughout the entire HLA-D region, and (ii) that celiac-disease susceptibility genes may reside as far centromeric on this haplotype as the HLA-DP subregion

  1. Extended HLA-D region haplotype associated with celiac disease

    Energy Technology Data Exchange (ETDEWEB)

    Howell, M.D.; Smith, J.R.; Austin, R.K.; Kelleher, D.; Nepom, G.T.; Volk, B.; Kagnoff, M.F.

    1988-01-01

    Celiac disease has one of the strongest associations with HLA (human leukocyte antigen) class II markers of the known HLA-linked diseases. This association is primarily with the class II serologic specificities HLA-DR3 and -DQw2. The authors previously described a restriction fragment length polymorphism (RFLP) characterized by the presence of a 4.0-kilobase Rsa I fragment derived from an HLA class II ..beta..-chain gene, which distinguishes the class II HLA haplotype of celiac disease patients from those of many serologically matched controls. They now report the isolation of this ..beta..-chain gene from a bacteriophage genomic library constructed from the DNA of a celiac disease patient. Based on restriction mapping and differential hybridization with class II cDNA and oligonucleotide probes, this gene was identified as one encoding an HLA-DP ..beta..-chain. This celiac disease-associated HLA-DP ..beta..-chain gene was flanked by HLA-DP ..cap alpha..-chain genes and, therefore, was probably in its normal chromosomal location. The HLA-DP..cap alpha..-chain genes of celiac disease patients also were studied by RFLP analysis. Celiac disease is associated with a subset of HLA-DR3, -DQw2 haplotypes characterized by HLA-DP ..cap alpha..- and ..beta..-chain gene RFLPs. Within the celiac-disease patient population, the joint segregation of these HLA-DP genes with those encoding the serologic specificities HLA-DR3 and -DQw2 indicates: (i) that the class II HLA haplotype associated with celiac disease is extended throughout the entire HLA-D region, and (ii) that celiac-disease susceptibility genes may reside as far centromeric on this haplotype as the HLA-DP subregion.

  2. SEROLOGICAL MARKERS OF CELIAC DISEASE AND HLA II ANTIGENS IN CHILDREN AND ADOLESCENTS WITH DIABETES MELLITUS TYPE 1

    Directory of Open Access Journals (Sweden)

    E. O. Hennesy

    2012-01-01

    Full Text Available We have studied incidenceof immunological markers of celiac disease in children with diabetes mellitus type 1 (DM1 and their correlation with clinical peculiarities and polymorphous alleles of HLA. It was shown that incidence of celiac markers is higher in DM1 children than in general population and makes up 7.4%. Patients who were seropositive with celiac antigens had gastrointestinal symptoms and iron deficiency more often. The occurrence rate of other autoimmune disorders in seropositive patients was 24%, with high count of autoantibodies towards transglutaminase (AbTT — 50%. More than 78% of seroposetive patients possessed haplotypes DQ2 and|or DQ8 HLA. The occurrence rate was identical. In patients with high AbTT occurrence of HLA genotypes with DQ2 and/or DQ8 rose up to 100%.

  3. Enhancement by gamma-interferon of in vivo tumor radiolocalization by a monoclonal antibody against HLA-DR antigen

    International Nuclear Information System (INIS)

    Rowlinson, G.; Balkwill, F.; Snook, D.; Hooker, G.; Epenetos, A.A.

    1986-01-01

    Athymic nu/nu (nude) mice bearing s.c. human breast tumors were treated systemically with recombinant human gamma-interferon. These tumors were phenotypically negative for HLA-DR prior to therapy, but after 4 days of treatment, 80% of the cells expressed this antigen in vivo as assessed by immunoperoxidase (F. R. Balkwill et al., Eur. J. Cancer Clin. Oncol., in press, 1986). A radioiodine-labeled murine monoclonal antibody (TAL-1B5) against HLA-DR specifically localized to the tumors in recombinant human gamma-interferon-treated but not in control mice. An isotype-identical murine monoclonal antibody that did not react with control or recombinant human gamma-interferon-treated tumors did not show any specific localization. These results demonstrate that specific localization to tumors of radio-labeled monoclonal antibodies to HLA-DR can be facilitated by systemic therapy with gamma-interferon

  4. HLA-A AND HLA-B ALLELES ASSOCIATED IN PSORIASIS PATIENTS FROM MUMBAI, WESTERN INDIA

    Science.gov (United States)

    Umapathy, Shankarkumar; Pawar, Aruna; Mitra, R; Khuperkar, D; Devaraj, J P; Ghosh, K; Khopkar, U

    2011-01-01

    Background: Psoriasis, a common autoimmune disorder characterized by T cell-mediated keratinocyte hyperproliferation, is known to be associated with the presence of certain specific Human Leukocyte Antigen (HLA) alleles. Aim: To evaluate distribution of HLA-A and HLA-B alleles and hence identify the susceptible allele of psoriasis from patients in Western India. Materials and Methods: The study design included 84 psoriasis patients and 291 normal individuals as controls from same geographical region. HLA-A and HLA-B typing was done using Serology typing. Standard statistical analysis was followed to identify the odds ratio (OR), allele frequencies, and significant P value using Graphpad software. Results: The study revealed significant increase in frequencies of HLA-A2 (OR-3.976, P<0.0001), B8 (OR-5.647, P<0.0001), B17 (OR-5.452, P<0.0001), and B44 (OR-50.460, P<0.0001), when compared with controls. Furthermore, the frequencies of HLA-A28 (OR-0.074, P=0.0024), B5 (OR-0.059, P<0.0001), B12 (OR-0.051, P=0.0002), and B15 (OR-0.237, P=0.0230) were significantly decreased in psoriasis patients. Conclusion: This study shows the strong association of HLA-A2, B8, and B17 antigens with psoriasis conferring susceptibility to psoriasis patients from Western India, while the antigens HLA-A28, B5, and B12 show strong negative association with the disease. PMID:22121262

  5. Association between HLA-DQA1, HLA-DQB1 and oral cancer

    Directory of Open Access Journals (Sweden)

    Sheng-Chien Tsai

    2011-10-01

    Full Text Available Cancer is one of the most common causes of morbidity and mortality. Genes whose products play a critical role in regulation of the immune response include the HLA antigen and cytokine families of genes. Oral cancer is common in men in developing countries, and its frequency is increased by using betel-quid, tobacco, and alcohol. The association between certain HLA Class I and Class II haplotypes and cancer has been documented in a variety of tumors. There was no previous data concerning the association of specific HLA Class II DQA1, DQB1 alleles, or haplotypes with oral cancer patients. In this study, we enrolled 134 Taiwanese patients with histologically confirmed oral cancer and 268 age- and gender-matched healthy Taiwanese adults as control group to investigate the association between HLA-DQA1, HLA-DQB1 allele frequencies and oral cancer patients by using polymerase chain reaction with sequence-specific primers. We found that both HLA-DQA1* and HLA-DQB1* allele frequencies in oral cancer patients revealed no significant difference from those of control groups. Haplotype frequencies of HLA*DQA1-0103-DQB1*0601 in oral cancer patients were significantly lower than those of the control group (odds ratio: 0.18, 95% confidence interval: 0.054–0.583, pc=0.02. Our data suggest that HLA DQA1*0103-DQB1*0601 haplotype may be protective with regard to the development of oral cancer.

  6. Psychosis among "healthy" siblings of schizophrenia patients

    Directory of Open Access Journals (Sweden)

    Partonen Timo

    2006-01-01

    Full Text Available Abstract Background Schizophrenia aggregates in families and accurate diagnoses are essential for genetic studies of schizophrenia. In this study, we investigated whether siblings of patients with schizophrenia can be identified as free of any psychotic disorder using only register information. We also analyzed the emergence of psychotic disorders among siblings of patients with schizophrenia during seven to eleven years of follow-up. Methods A genetically homogenous population isolate in north-eastern Finland having 365 families with 446 patients with a diagnosis of schizophrenia was initially identified in 1991 using four nationwide registers. Between 1998 and 2002, 124 patients and 183 siblings in 110 families were contacted and interviewed using SCID-I, SCID-II and SANS. We also compared the frequency of mental disorders between siblings and a random population comparison group sample. Results Thirty (16% siblings received a diagnosis of psychotic disorder in the interview. 14 siblings had had psychotic symptoms already before 1991, while 16 developed psychotic symptoms during the follow-up. Over half of the siblings (n = 99, 54% had a lifetime diagnosis of any mental disorder in the interview. Conclusion Register information cannot be used to exclude psychotic disorders among siblings of patients with schizophrenia. The high rate of emergence of new psychotic disorders among initially healthy siblings should be taken into account in genetic analysis.

  7. Siblings of children with life-limiting conditions: psychological adjustment and sibling relationships.

    Science.gov (United States)

    Fullerton, J M; Totsika, V; Hain, R; Hastings, R P

    2017-05-01

    This study explored psychological adjustment and sibling relationships of siblings of children with life-limiting conditions (LLCs), expanding on previous research by defining LLCs using a systematic classification of these conditions. Thirty-nine siblings participated, aged 3-16 years. Parents completed measures of siblings' emotional and behavioural difficulties, quality of life, sibling relationships and impact on families and siblings. Sibling and family adjustment and relationships were compared with population norms, where available, and to a matched comparison group of siblings of children with autistic spectrum disorder (ASD), as a comparable 'high risk' group. LLC siblings presented significantly higher levels of emotional and behavioural difficulties, and lower quality of life than population norms. Their difficulties were at levels comparable to siblings of children with ASD. A wider impact on the family was confirmed. Family socio-economic position, time since diagnosis, employment and accessing hospice care were factors associated with better psychological adjustment. Using a systematic classification of LLCs, the study supported earlier findings of increased levels of psychological difficulties in siblings of children with a LLC. The evidence is (i) highlighting the need to provide support to these siblings and their families, and (ii) that intervention approaches could be drawn from the ASD field. © 2016 John Wiley & Sons Ltd.

  8. Siblings' coping strategies and mental health services: a national study of siblings of persons with schizophrenia.

    Science.gov (United States)

    Friedrich, Rose Marie; Lively, Sonja; Rubenstein, Linda M

    2008-03-01

    This study examined the helpfulness of coping strategies and the relative importance of mental health services in coping with schizophrenia from the perspective of siblings. This article presents selected survey data from a national study of 746 respondents that investigated the impact of schizophrenia on siblings' lives. The authors developed the Friedrich-Lively Instrument to Assess the Impact of Schizophrenia on Siblings (FLIISS), a closed-ended questionnaire that included questions about coping strategies and mental health services. Respondents identified services for the ill sibling, including symptom control, adequate housing, and long-term planning, as more important than direct services for themselves. The top-ranked coping strategies were education about schizophrenia, a supportive family, and seeing the ill sibling suffer less because symptoms were controlled. Understanding that families were not to blame for schizophrenia was the most helpful coping strategy for nearly three-fourths of siblings. Siblings had little contact with providers in the past; yet the majority of siblings wanted providers to be available to answer questions and clarify their role in future care. At the time of the study, respondents provided social support and helped with crises, but few coordinated the total care. Siblings identified multiple ways that providers can support and assist them in coping with the impact of schizophrenia. Education and support for siblings without schizophrenia and services for their ill siblings will become increasingly important for the well-being of siblings as they are faced with the responsibility of being the primary caregivers in the future.

  9. Sibling Relationships in Adults Who Have Siblings with or without Intellectual Disabilities

    Science.gov (United States)

    Doody, Mairead A.; Hastings, Richard P.; O'Neill, Sarah; Grey, Ian M.

    2010-01-01

    There is relatively little research on the relationships between adults with intellectual disability and their siblings, despite the potential importance of these relationships for either individual's psychological well-being and future care roles that might be adopted by adult siblings. In the present study, sibling relationships of adults with…

  10. Process modeling of a HLA research lab

    Science.gov (United States)

    Ribeiro, Bruna G. C.; Sena, Alexandre C.; Silva, Dilson; Marzulo, Leandro A. J.

    2017-11-01

    Bioinformatics has provided tremendous breakthroughs in the field of molecular biology. All this evolution has generated a large volume of biological data that increasingly require the use of computing for analysis and storage of this information. The identification of the human leukocyte antigen (HLA) genotypes is critical to the success of organ transplants in humans. HLA typing involves not only laboratory tests but also DNA sequencing, with the participation of several professionals responsible for different stages of the process. Thus, the objective of this paper is to map the main steps in HLA typing in a laboratory specialized in performing such procedures, analyzing each process and proposing solutions to speed up the these steps, avoiding mistakes.

  11. Production of human anti-HLA monoclonal antibodies

    Energy Technology Data Exchange (ETDEWEB)

    Walker, M.C.; Mercier, F.; Roger, J.; Varin, M.

    1986-03-01

    Only 40% of the several hundred anti-HLA murine monoclonal antibodies (MAbs) that have been made detect HLA-A,B,C or DR specificities previously defined by human alloantisera, the range of recognized specificities is very narrow, and few of the MAbs have proven useful as tissue typing reagents. In hopes of obtaining HLA typing reagents, the authors are developing a protocol for the production of human anti-HLA MAbs from HLA-antigen (Ag) immunized peripheral blood B cells of volunteering renal patients, immunized to one or more HLA Ags through therapeutic blood transfusions. A simple enrichment of the donor B cells has not been sufficient for anti-HLA MAb production, the authors are currently delineating the conditions necessary for increasing the number of HLA-specific donor B cells by in vitro stimulation with cells expressing the HLA Ag to which the B cell donor is immunized. For the production of MAbs, the stimulated B cells are transformed with Epstein-Barr virus and subsequently fused with KR-4 lymphoblastoid cells. Hybridomas are selected by HAT and Ouabain. Supernatants are screened for anti-HLA activity against lymphocyte targets expressing the original immunizing HLA Ag by complement mediated /sup 51/Cr release assay. Antibody specificity is determined by the complement-dependent microcytotoxicity test used for HLA typing.

  12. Indirect recognition of HLA epitopes in solid organ transplantation

    NARCIS (Netherlands)

    Geneugelijk, C.C.A.

    2017-01-01

    Alloreactivity due to HLA mismatches between donor and recipient remains the major limiting factor in successful graft outcome after solid organ transplantation. However, the immunogenicity of individual HLA mismatches is highly variable. Therefore, epitope-based HLA matching may be a sophisticated

  13. Association study between HLA-DRB, HLA-DQA1, HLA-DQB1 and breast cancer in Iranian women

    Directory of Open Access Journals (Sweden)

    Amirzargar AA

    2010-11-01

    Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Based on the reports, high frequency of special alleles of HLA class II genes might be associated with susceptibility to or protective from a particular cancer. These alleles might vary depending on the geographical region. Here we investigate the association between alleles of HLA class II genes and breast cancer in Iranian women."n"nMethods: 100 patients with pathologically proved breast cancer who referred to Cancer Institute, Tehran University of Medical Sciences in Tehran, Iran, were divided to two groups based on ages (40 years old and less/ or more than 40 years old and were randomly selected and compared with a group of 80 healthy blood donor subjects. HLA class II alleles were determined by amplification of DNA with polymerase chain reaction (PCR method followed by HLA-typing using sequence-specific primer (SSP for each allele."n"nResults: The most frequent alleles in the DR and DQ regions in group 1 (40 years old and less in comparison with control group were HLA-DQA1*0301 (p=0.002 and HLA-DQB1*0302 (p>0.05. In contrast HLA-DQA1*0505 (p=0.004 had significantly lower frequency in this group compared with control group. Patients of group two (more than 40 years old had a higher frequencies of HLA

  14. Hard Identity and Soft Identity

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    Hassan Rachik

    2006-04-01

    Full Text Available Often collective identities are classified depending on their contents and rarely depending on their forms. Differentiation between soft identity and hard identity is applied to diverse collective identities: religious, political, national, tribal ones, etc. This classification is made following the principal dimensions of collective identities: type of classification (univocal and exclusive or relative and contextual, the absence or presence of conflictsof loyalty, selective or totalitarian, objective or subjective conception, among others. The different characteristics analysed contribute to outlining an increasingly frequent type of identity: the authoritarian identity.

  15. Measuring ambiguity in HLA typing methods.

    Directory of Open Access Journals (Sweden)

    Vanja Paunić

    Full Text Available In hematopoietic stem cell transplantation, donor selection is based primarily on matching donor and patient HLA genes. These genes are highly polymorphic and their typing can result in exact allele assignment at each gene (the resolution at which patients and donors are matched, but it can also result in a set of ambiguous assignments, depending on the typing methodology used. To facilitate rapid identification of matched donors, registries employ statistical algorithms to infer HLA alleles from ambiguous genotypes. Linkage disequilibrium information encapsulated in haplotype frequencies is used to facilitate prediction of the most likely haplotype assignment. An HLA typing with less ambiguity produces fewer high-probability haplotypes and a more reliable prediction. We estimated ambiguity for several HLA typing methods across four continental populations using an information theory-based measure, Shannon's entropy. We used allele and haplotype frequencies to calculate entropy for different sets of 1,000 subjects with simulated HLA typing. Using allele frequencies we calculated an average entropy in Caucasians of 1.65 for serology, 1.06 for allele family level, 0.49 for a 2002-era SSO kit, and 0.076 for single-pass SBT. When using haplotype frequencies in entropy calculations, we found average entropies of 0.72 for serology, 0.73 for allele family level, 0.05 for SSO, and 0.002 for single-pass SBT. Application of haplotype frequencies further reduces HLA typing ambiguity. We also estimated expected confirmatory typing mismatch rates for simulated subjects. In a hypothetical registry with all donors typed using the same method, the entropy values based on haplotype frequencies correspond to confirmatory typing mismatch rates of 1.31% for SSO versus only 0.08% for SBT. Intermediate-resolution single-pass SBT contains the least ambiguity of the methods we evaluated and therefore the most certainty in allele prediction. The presented measure

  16. Measuring Ambiguity in HLA Typing Methods

    Science.gov (United States)

    Madbouly, Abeer; Freeman, John; Maiers, Martin

    2012-01-01

    In hematopoietic stem cell transplantation, donor selection is based primarily on matching donor and patient HLA genes. These genes are highly polymorphic and their typing can result in exact allele assignment at each gene (the resolution at which patients and donors are matched), but it can also result in a set of ambiguous assignments, depending on the typing methodology used. To facilitate rapid identification of matched donors, registries employ statistical algorithms to infer HLA alleles from ambiguous genotypes. Linkage disequilibrium information encapsulated in haplotype frequencies is used to facilitate prediction of the most likely haplotype assignment. An HLA typing with less ambiguity produces fewer high-probability haplotypes and a more reliable prediction. We estimated ambiguity for several HLA typing methods across four continental populations using an information theory-based measure, Shannon's entropy. We used allele and haplotype frequencies to calculate entropy for different sets of 1,000 subjects with simulated HLA typing. Using allele frequencies we calculated an average entropy in Caucasians of 1.65 for serology, 1.06 for allele family level, 0.49 for a 2002-era SSO kit, and 0.076 for single-pass SBT. When using haplotype frequencies in entropy calculations, we found average entropies of 0.72 for serology, 0.73 for allele family level, 0.05 for SSO, and 0.002 for single-pass SBT. Application of haplotype frequencies further reduces HLA typing ambiguity. We also estimated expected confirmatory typing mismatch rates for simulated subjects. In a hypothetical registry with all donors typed using the same method, the entropy values based on haplotype frequencies correspond to confirmatory typing mismatch rates of 1.31% for SSO versus only 0.08% for SBT. Intermediate-resolution single-pass SBT contains the least ambiguity of the methods we evaluated and therefore the most certainty in allele prediction. The presented measure objectively evaluates HLA

  17. HLA-DR typing by radioimmunoassay

    International Nuclear Information System (INIS)

    Tosi, R.; Tanigaki, N.; Centis, D.; Rossi, P.L.; Alfano, G.; Ferrara, G.B.; Pressman, D.

    1980-01-01

    A radioimmunoassay procedure is described by which peripheral blood lymphocytes can be typed for HLA-DR specificities. The major advantages of this method are the following: simple and reproducible procedure, no need for B lymphocyte separation, no need for optimal viability, and no need for preabsorption of antisera with platelets. This method will find an application in the genetic and biochemical analysis of the HLA complex, and in the clinical tests of Ia antigens for diagnostic or prognostic purposes and in retrospective transplant studies

  18. Levels of soluble TREM-1 in children with newly diagnosed type 1 diabetes and their siblings without type 1 diabetes

    DEFF Research Database (Denmark)

    Thorsen, Steffen U.; Pipper, Christian B.; Mortensen, Henrik B.

    2017-01-01

    BACKGROUND: Type 1 diabetes (T1D) is an organ-specific autoimmune disease with an increase in incidence worldwide including Denmark. The triggering receptor expressed on myeloid cells-1 (TREM-1) is a potent amplifier of pro-inflammatory responses and has been linked to autoimmunity, severe...... psychiatric disorders, sepsis, and cancer. HYPOTHESIS: Our primary hypothesis was that levels of soluble TREM-1 (sTREM-1) differed between newly diagnosed children with T1D and their siblings without T1D. METHODS: Since 1996, the Danish Childhood Diabetes Register has collected data on all patients who have......, which takes into account that measurements are left censored and accounts for correlation within siblings from the same family. RESULTS: In the multiple regression model (case status, gender, age, HLA-risk, season, and period of sampling), levels of sTREM-1 were found to be significantly higher...

  19. "She came out of mum's tummy the wrong way". (Mis)conceptions among siblings of children with rare disorders.

    Science.gov (United States)

    Vatne, Torun M; Helmen, Ingerid Østborg; Bahr, David; Kanavin, Øivind; Nyhus, Livø

    2015-04-01

    Misconceptions or uncertainty about the rare disorder of a sibling may cause adjustment problems among children. New knowledge about their misconceptions may enable genetic counselors to provide targeted information and increase siblings' knowledge. This study aims to describe misconceptions and uncertainties of siblings of children with rare disorders. Content analysis was applied to videotapes of 11 support group sessions with 56 children aged 6 to 17. First, children's statements about the disorder (turns) were categorized into the categories "identity," "cause," "cure," "timeline," and "consequences" and then coded as medically "correct," "misunderstood," or "uncertain." Next, turns categorized as "misunderstood" or "uncertain" were analyzed to explore prominent trends. Associations between sibling age, type of disorder, and frequency of misconceptions or uncertainties were analyzed statistically. Approximately 16 % of the children's turns were found to involve misconceptions or uncertainty about the disorder, most commonly about the identity or cause of the disorder. Misconceptions seemed to originate from information available in everyday family life, generalization of lay beliefs, or through difficulties understanding abstract medical concepts. Children expressed uncertainty about the reasons for everyday experiences (e.g. the abnormal behavior they observed). A lack of available information was described as causing uncertainty. Misconceptions and uncertainties were unrelated to child age or type of disorder. The information needs of siblings should always be addressed during genetic counseling, and advice and support offered to parents when needed. Information provided to siblings should be based on an exploration of their daily experiences and thoughts about the rare disorder.

  20. Do Older Siblings Make a Difference? The Effects of Older Sibling Support and Older Sibling Adjustment on the Adjustment of Socially Disadvantaged Adolescents.

    Science.gov (United States)

    Widmer, Eric D.; Weiss, Christopher C.

    2000-01-01

    Examined role of support from a well-adjusted older sibling for positive adjustment of disadvantaged inner-city adolescents. Found that sibling support was nonsignificantly related to delinquency, academic success, and mental health for younger siblings. Only when accompanied by a positive image of their older sibling was support associated with…

  1. Donor-Recipient Matching for KIR Genotypes Reduces Chronic GVHD and Missing Inhibitory KIR Ligands Protect against Relapse after Myeloablative, HLA Matched Hematopoietic Cell Transplantation.

    Directory of Open Access Journals (Sweden)

    Rehan Mujeeb Faridi

    Full Text Available Allogeneic hematopoietic cell transplantation (HCT can be curative for many hematologic diseases. However, complications such as graft-versus-host disease (GVHD and relapse of primary malignancy remain significant and are the leading causes of morbidity and mortality. Effects of killer Ig-like receptors (KIR-influenced NK cells on HCT outcomes have been extensively pursued over the last decade. However, the relevance of the reported algorithms on HLA matched myeloablative HCT with rabbit antithymocyte globulin (ATG is used for GVHD prophylaxis remains elusive. Here we examined the role of KIR and KIR-ligands of donor-recipient pairs in modifying the outcomes of ATG conditioned HLA matched sibling and unrelated donor HCT.The study cohort consisted of 281 HLA matched sibling and unrelated donor-recipient pairs of first allogeneic marrow or blood stem cell transplantation allocated into 'discovery' (135 pairs and 'validation' (146 pairs cohorts. High resolution HLA typing was obtained from the medical charts and KIR gene repertoires were obtained by a Luminex® based SSO method. All surviving patients were followed-up for a minimum of two years. KIR and HLA class I distributions of HCT pairs were stratified as per applicable definitions and were tested for their association with cause specific outcomes [acute GVHD grade II-IV (aGVHD, chronic GVHD needing systemic therapy (cGVHD and relapse] using a multivariate competing risks regression model as well as with survival outcomes [relapse-free survival (RFS, cGVHD & relapse free survival (cGRFS and overall survival (OS] by multivariate Cox proportional hazards regression model. A significant association between KIR genotype mismatching (KIR-B/x donor into KIR-AA recipient or vice versa and cGVHD was found in both discovery (p = 0.001; SHR = 2.78; 95%CI: 1.50-5.17 and validation cohorts (p = 0.005; SHR = 2.61; 95%CI: 1.33-5.11. High incidence of cGVHD associated with KIR genotype mismatching was

  2. Donor-Recipient Matching for KIR Genotypes Reduces Chronic GVHD and Missing Inhibitory KIR Ligands Protect against Relapse after Myeloablative, HLA Matched Hematopoietic Cell Transplantation.

    Science.gov (United States)

    Faridi, Rehan Mujeeb; Kemp, Taylor J; Dharmani-Khan, Poonam; Lewis, Victor; Tripathi, Gaurav; Rajalingam, Raja; Daly, Andrew; Berka, Noureddine; Storek, Jan; Masood Khan, Faisal

    2016-01-01

    Allogeneic hematopoietic cell transplantation (HCT) can be curative for many hematologic diseases. However, complications such as graft-versus-host disease (GVHD) and relapse of primary malignancy remain significant and are the leading causes of morbidity and mortality. Effects of killer Ig-like receptors (KIR)-influenced NK cells on HCT outcomes have been extensively pursued over the last decade. However, the relevance of the reported algorithms on HLA matched myeloablative HCT with rabbit antithymocyte globulin (ATG) is used for GVHD prophylaxis remains elusive. Here we examined the role of KIR and KIR-ligands of donor-recipient pairs in modifying the outcomes of ATG conditioned HLA matched sibling and unrelated donor HCT. The study cohort consisted of 281 HLA matched sibling and unrelated donor-recipient pairs of first allogeneic marrow or blood stem cell transplantation allocated into 'discovery' (135 pairs) and 'validation' (146 pairs) cohorts. High resolution HLA typing was obtained from the medical charts and KIR gene repertoires were obtained by a Luminex® based SSO method. All surviving patients were followed-up for a minimum of two years. KIR and HLA class I distributions of HCT pairs were stratified as per applicable definitions and were tested for their association with cause specific outcomes [acute GVHD grade II-IV (aGVHD), chronic GVHD needing systemic therapy (cGVHD) and relapse] using a multivariate competing risks regression model as well as with survival outcomes [relapse-free survival (RFS), cGVHD & relapse free survival (cGRFS) and overall survival (OS)] by multivariate Cox proportional hazards regression model. A significant association between KIR genotype mismatching (KIR-B/x donor into KIR-AA recipient or vice versa) and cGVHD was found in both discovery (p = 0.001; SHR = 2.78; 95%CI: 1.50-5.17) and validation cohorts (p = 0.005; SHR = 2.61; 95%CI: 1.33-5.11). High incidence of cGVHD associated with KIR genotype mismatching was applicable

  3. Human thymic epithelial cells express functional HLA-DP molecules

    DEFF Research Database (Denmark)

    Jørgensen, A; Röpke, C; Nielsen, M

    1996-01-01

    T lymphocytes, we examined whether human thymic epithelial cells (TEC) expressed HLA-DP molecules. We present evidence that TEC obtained from short time culture express low but significant levels of HLA-DP molecules. The expression of HLA-DP molecules was comparable to or higher than the expression...... of HLA-DP allospecific primed lymphocyte typing (PLT) CD4 T cell lines. IFN-gamma treatment strongly upregulated the HLA-DP allospecific PLT responses whereas other PLT responses remained largely unchanged. In conclusion, these data indicate that human thymus epithelial cells express significant levels...

  4. Sibling Dependence, Uncertainty and Education

    DEFF Research Database (Denmark)

    Lilleør, Helene Bie

    in the educational decision, which is consistent with a human capital portfolio theory of risk diversification and which cannot be explained by sibling rivalry over scarce resources for credit constrained households. The paper thus provides a complementary explanation to why enrolment rates in developing countries......Primary school enrolment rates are continuously low in many developing countries. The main explanation in the economic literature on schooling is focused on credit constraints and child labour, implying that the indirect cost of schooling in terms of foregone earnings is too high. This paper...

  5. Are elder siblings helpers or competitors? Antagonistic fitness effects of sibling interactions in humans

    Science.gov (United States)

    Nitsch, Aïda; Faurie, Charlotte; Lummaa, Virpi

    2013-01-01

    Determining the fitness consequences of sibling interactions is pivotal for understanding the evolution of family living, but studies investigating them across lifetime are lacking. We used a large demographic dataset on preindustrial humans from Finland to study the effect of elder siblings on key life-history traits. The presence of elder siblings improved the chances of younger siblings surviving to sexual maturity, suggesting that despite a competition for parental resources, they may help rearing their younger siblings. After reaching sexual maturity however, same-sex elder siblings' presence was associated with reduced reproductive success in the focal individual, indicating the existence of competition among same-sex siblings. Overall, lifetime fitness was reduced by same-sex elder siblings' presence and increased by opposite-sex elder siblings' presence. Our study shows opposite effects of sibling interactions depending on the life-history stage, and highlights the need for using long-term fitness measures to understand the selection pressures acting on sibling interactions. PMID:23173210

  6. Leadership identities

    DEFF Research Database (Denmark)

    Holmgreen, Lise-Lotte

    2018-01-01

    Questioning the assumption that identities can be controlled through a shared organisational culture, the article explores the inculcation of a discourse of diversity into leadership identities in a Danish bank and building society. Thus, it intends to demonstrate that, on the one hand, discourse...... plays a significant role in identity construction and, on the other, that leaders’ constructions may have many sources of inspiration within and outside the organisation, emphasising that identity construction is a complex process in which organisational efforts to promote a common leadership identity...... to construct their leadership identities. While the respondents present comparable identities to the interviewer, the analysis reveals that the they draw on different discourses and employ a number of different discursive means to present this identity. This, the article argues, may be the result of a number...

  7. Are Sibling Relationships Protective? A Longitudinal Study

    Science.gov (United States)

    Gass, Krista; Jenkins, Jennifer; Dunn, Judy

    2007-01-01

    Background: Although the protective effects of familial and parental support have been studied extensively in the child psychopathology literature, few studies have explored the protective quality of positive sibling relationships. Methods: A two-wave longitudinal design was used to examine the protective effect of positive sibling relationships…

  8. Prohibitions against Mourning in Childhood Sibling Loss.

    Science.gov (United States)

    Rosen, Helen

    1985-01-01

    Presents findings from a research study on sibling loss in childhood which support the idea that the loss of a sibling in childhood may be an especially significant loss for a child, in that both internal, family, and societal influences prohibit the opportunity to mourn the loss. (Author/NRB)

  9. Sibling Kinnections: A Clinical Visitation Program

    Science.gov (United States)

    Pavao, Joyce Maguire; St. John, Melissa; Cannole, Rebecca Ford; Fischer, Tara; Maluccio, Anthony; Peining, Suzanne

    2007-01-01

    The growing literature on sibling relationships throughout their lifespans is of great importance to those working in the child welfare system, and in adoption services in particular. Sibling bonds are important to all of us, but they are particularly vital to children from disorganized or dysfunctional families. These relationships assume even…

  10. Grieving the Loss of a Sibling

    Science.gov (United States)

    ... roles and responsibilities that may change when a sibling dies. You may take on new responsibilities, such as becoming the oldest child or an only child to whom family members look for leadership. This change can cause you ... cancer. Because you and your siblings share many of the same genes, it is ...

  11. Perceived Sibling Relationships and Adolescent Development.

    Science.gov (United States)

    Yeh, Hsiu-Chen; Lempers, Jacques D.

    2004-01-01

    Utilizing longitudinal, 3-wave data collected from multiple informants (fathers, mothers, and target children) in 374 families, the potential effects of sibling relationships on adolescent development across early and middle adolescence were investigated. Adolescents who perceived their sibling relationships more positively at Time 1 tended to…

  12. The Sibling: A Lifelong Journey of Care.

    Science.gov (United States)

    Liska, Victoria D.

    This paper describes the feelings and needs of children who have siblings with disabilities from the point of view of a woman who has a brother with an intellectual disability. Eight lessons that adult siblings can teach professionals about the significant, often forgotten, family role they play are outlined, supported by descriptive quotations…

  13. Young Children's Apologies to Their Siblings

    Science.gov (United States)

    Schleien, Sara; Ross, Hildy; Ross, Michael

    2010-01-01

    When children apologize, they accept responsibility for wrongdoings and act to reconcile social relationships. Apologies to siblings were coded in 40 families that were observed for 9 h when children were 2 1/2 and 4 1/2 years old, and again 2 years later. We found that sibling apologies were rare, generally simple in form, and more frequent after…

  14. Adult Siblings Consider the Future: Emergent Themes

    Science.gov (United States)

    Davys, Deborah; Mitchell, Duncan; Haigh, Carol

    2016-01-01

    Background: This study aimed to explore the perceptions of adult siblings regarding a future care role and compare with perceived parental wishes as family often provide a key support role in the lives of people who have an intellectual disability. Materials and Method: Semi-structured interviews were undertaken with 15 adult siblings and an…

  15. Sibling Family Practices: Guidelines for Healthy Boundaries

    Science.gov (United States)

    Johnson, Toni Cavanagh; Huang, Bevan Emma; Simpson, Pippa M.

    2009-01-01

    A questionnaire was given to 500 mental health and child welfare professionals asking for maximum acceptable ages for siblings to engage jointly in certain family practices related to hygiene, affection, and privacy. A large proportion of respondents felt it was never acceptable for siblings to take showers together (40%), kiss on the mouth (37%),…

  16. Sibling Relationships among Children with ADHD

    Science.gov (United States)

    Mikami, Amori Yee; Pfiffner, Linda J.

    2008-01-01

    Objective: This study investigated the quality of sibling relationships among children with ADHD relative to those without ADHD. Additional analyses examined whether externalizing and internalizing problems comorbid with ADHD affected sibling relationships. Method: Participants were 77 children with ADHD and 14 nonproblem control children. Sibling…

  17. Interaction between Siblings in Primetime Television Families.

    Science.gov (United States)

    Larson, Mary S.

    1989-01-01

    Analyzes three primetime family sitcoms in order to describe the nature of sibling interaction in television families. Research on television families is examined, and questions are raised concerning the value of television sibling images as role models for real people, and the effects of these models on family and peer relationships. (27…

  18. Parental Perceptions of Children's Sibling Relationships.

    Science.gov (United States)

    Kramer, Laurie; Baron, Lisa A.

    1995-01-01

    Parental appraisals of their children's sibling relationships, and their standards for sibling relationships, were assessed. Although parents reported most concern about their children's Agonism and Rivalry/Competition, the largest discrepancies between parental standards and observations involved behaviors reflecting Warmth. Results endorse…

  19. Relationships between Social Cognition and Sibling Constellations.

    Science.gov (United States)

    Goebel, Barbara L.

    1985-01-01

    First and second born college students (N=178) responded to measures of four social cognition factors. Multivariate analysis of variance identified relationships of social cognition factors with five sibling constellation components: subject's sex, subject's birth order (first or second), adjacent first or second born sibling's sex, spacing…

  20. HLA-G molecule as inductor of immunotolerance

    International Nuclear Information System (INIS)

    Alfonso Valdes, Maria E

    2009-01-01

    HLA-G are molecules are (non-classic) class I antigens from main histocompatibility system. There are sis isoforms of HLA-G antigen codifying four proteins united to a membrane (HLA-G1, HLA-G2, HLA-G3, HLA-G4), and three soluble isoforms (HLA-G5, HLA-G6, HLA-G7). The first ones are expressed in cells of placental extravillous cytotrophoblast (Langhans' layer), amnios epithelial cells, fetal endothelial cells, mesenchymal macrophages of chorionic villi, and in epithelial cells of thymus medulla; the second ones in amniotic fluid, in maternal peripheral blood and that of the umbilical cord. There was a HLA-G expression in some types of tumors, stroma cells under inflammation conditions, virus-infected cells and in serum of transplant patients. There are strong evidences of HLA-G molecules role in tolerance induction to these physiological and pathological situations through suppression of lithic activity of NK cells and of cytotoxic T lymphocytes. This knowledge may be very useful in future therapeutical management of these entities as well as to favor the success of tissue and organ transplant

  1. HLA-DR expression and disease activity in ulcerative colitis

    DEFF Research Database (Denmark)

    Poulsen, L O; Elling, P; Sørensen, Flemming Brandt

    1986-01-01

    In 12 patients with active ulcerative colitis (UC) the rectal epithelial cells were analyzed for HLA-DR antigens by an immunohistochemical technique. The clinical, rectoscopic, and histologic stages were also determined. The investigations were carried out at the beginning of the study and 2 weeks...... and 3 months later. The rectal epithelial cells were HLA-DR-positive in all patients at the first two examinations. After 3 months five patients had changed to an HLA-DR-negative stage, whereas the other seven patients remained HLA-DR-positive. Closer analyses showed that expression/nonexpression of HLA-DR...... antigens on rectal epithelial cells of patients with UC could not be predicted from the clinical, rectoscopic, or histologic findings. HLA-DR expression is normally restricted to immunocompetent cells. The presence of HLA-DR antigens on epithelial cells may be a consequence of immunological reactions...

  2. Spontaneous retinopathy in HLA-A29 transgenic mice

    Science.gov (United States)

    Szpak, Yann; Vieville, Jean-Claude; Tabary, Thierry; Naud, Marie-Christine; Chopin, Martine; Edelson, Catherine; Cohen, Jacques H. M.; Dausset, Jean; de Kozak, Yvonne; Pla, Marika

    2001-01-01

    Humans who have inherited the class I major histocompatibility allele HLA-A29 have a markedly increased relative risk of developing the eye disease termed birdshot chorioretinopathy. This disease affecting adults is characterized by symmetrically scattered, small, cream-colored spots in the fundus associated with retinal vasculopathy and inflammatory signs causing damage to the ocular structures, leading regularly to visual loss. To investigate the role of HLA-A29 in this disease, we introduced the HLA-A29 gene into mice. Aging HLA-A29 transgenic mice spontaneously developed retinopathy, showing a striking resemblance to the HLA-A29-associated chorioretinopathy. These results strongly suggest that HLA-A29 is involved in the pathogenesis of this disease. Elucidation of the role of HLA-A29 should be assisted by this transgenic model. PMID:11226280

  3. Ternutator identities

    International Nuclear Information System (INIS)

    Devchand, Chandrashekar; Fairlie, David; Nuyts, Jean; Weingart, Gregor

    2009-01-01

    The ternary commutator or ternutator, defined as the alternating sum of the product of three operators, has recently drawn much attention as an interesting structure generalizing the commutator. The ternutator satisfies cubic identities analogous to the quadratic Jacobi identity for the commutator. We present various forms of these identities and discuss the possibility of using them to define ternary algebras.

  4. Sibling advocates of people with intellectual disabilities.

    Science.gov (United States)

    Ying Li, Eria Ping

    2006-06-01

    The aim of this study was to examine the experience of the first generation of sibling advocates in Hong Kong. A qualitative approach was adopted and six sibling advocates of people with intellectual disabilities from one non-government organization were interviewed. Data were analyzed using a constant comparative method and content analysis. Findings revealed that the six participants were reactive in the process of taking up the caregiver responsibility and they performed three functions: to advocate for more service provision, to improve service quality, and to facilitate communication between individual service units and family members of people with intellectual disabilities. All of the participants expressed that they needed support from service providers when they tried to function as the sibling advocates. Strategies to promote the involvement of siblings of people with intellectual disabilities as advocates are discussed and it is expected that more siblings of people with intellectual disabilities will be supported to have a higher level of involvement in advocacy.

  5. Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus.

    Directory of Open Access Journals (Sweden)

    Kwangwoo Kim

    Full Text Available The genetic association of HLA-DRB1 with rheumatoid arthritis (RA and systemic lupus erythematosus (SLE is well documented, but association with other HLA-DR beta genes (HLA-DRB3, HLA-DRB4 and HLA-DRB5 has not been thoroughly studied, despite their similar functions and chromosomal positions. We examined variants in all functional HLA-DR beta genes in RA and SLE patients and controls, down to the amino-acid level, to better understand disease association with the HLA-DR locus. To this end, we improved an existing HLA reference panel to impute variants in all protein-coding HLA-DR beta genes. Using the reference panel, HLA variants were inferred from high-density SNP data of 9,271 RA-control subjects and 5,342 SLE-control subjects. Disease association tests were performed by logistic regression and log-likelihood ratio tests. After imputation using the newly constructed HLA reference panel and statistical analysis, we observed that HLA-DRB1 variants better accounted for the association between MHC and susceptibility to RA and SLE than did the other three HLA-DRB variants. Moreover, there were no secondary effects in HLA-DRB3, HLA-DRB4, or HLA-DRB5 in RA or SLE. Of all the HLA-DR beta chain paralogs, those encoded by HLA-DRB1 solely or dominantly influence susceptibility to RA and SLE.

  6. HLA-A*7401-mediated control of HIV viremia is independent of its linkage disequilibrium with HLA-B*5703

    DEFF Research Database (Denmark)

    Matthews, Philippa C; Adland, Emily; Listgarten, Jennifer

    2011-01-01

    -clade-infected subjects. We present evidence that HLA-A*7401 operates an effect that is independent of HLA-B*5703, with which it is in linkage disequilibrium in some populations, to mediate lowered viremia. We describe a novel statistical approach to detecting additive effects between class I alleles in control of HIV-1...... epitopes appear immunodominant. We identify eight novel putative HLA-A*7401-restricted epitopes, of which three have been defined to the optimal epitope. In common with HLA-B alleles linked with slow progression, viremic control through an HLA-A*7401-restricted response appears to be associated...... with the selection of escape mutants within Gag epitopes that reduce viral replicative capacity. These studies highlight the potentially important contribution of an HLA-A allele to immune control of HIV infection, which may have been concealed by a stronger effect mediated by an HLA-B allele with which...

  7. Genetic modification of risk assessment based on staging of preclinical type 1 diabetes in siblings of affected children.

    Science.gov (United States)

    Mrena, S; Savola, K; Kulmala, P; Reijonen, H; Ilonen, J; Akerblom, H K; Knip, M

    2003-06-01

    We set out to study the association between human leukocyte antigen-defined genetic disease susceptibility and the stage of preclinical type 1 diabetes and whether genetic predisposition affects the natural course of preclinical diabetes in initially nondiabetic siblings of affected children. A total of 701 initially unaffected siblings were graded into four stages of preclinical type 1 diabetes based on the initial number of disease-associated autoantibodies detectable close to the time of diagnosis of the index case: no prediabetes (no antibodies), early (one antibody specificity), advanced (two antibodies), and late prediabetes (three or more antibodies). Another classification system covering 659 siblings was based on a combination of the initial number of antibodies and the first-phase insulin response (FPIR) to iv glucose: no prediabetes (no antibodies), early (one antibody specificity, normal FPIR), advanced (two or more antibodies, normal FPIR), and late prediabetes (at least one antibody, reduced FPIR). Genetic susceptibility to type 1 diabetes was defined by human leukocyte antigen identity and DR and DQ genotypes. There was a higher proportion of siblings with late prediabetes initially among those with strong genetic disease susceptibility than among those with decreased genetic predisposition (16.7% vs. 0.5%; P siblings with no signs of prediabetes among those with genotypes conferring decreased risk (91.2% vs. 70.4% among those with high-risk DQB1 genotypes; P siblings than when combined with genetic susceptibility. Genetic susceptibility played a role in whether the initial prediabetic stage progressed (progression in 29.6% of the high-risk siblings compared with 6.6% of the siblings with DQB1 genotypes conferring decreased risk; P siblings of affected children.

  8. Considerations of Elder Sibling Closeness in Predicting Younger Sibling Substance Use: Social Learning versus Social Bonding Explanations

    Science.gov (United States)

    Samek, Diana R.; Rueter, Martha A.

    2011-01-01

    Adolescent siblings are often similar in a variety of adjustment outcomes, yet little is known about the processes that explain sibling influences during adolescence. Two alternative explanations were tested, attachment (based in social bonding theory) and anaclitic identification (based in social learning theory). Hypotheses were tested using a sample of 613 adolescent sibling pairs (206 non-adopted, 407 adopted; elder sibling Mage = 16.1, younger sibling Mage = 13.8) across three sibling contexts (gender composition, age difference, and genetic similarity). Attachment explanations were supported such that the greater the perceived sibling emotional and behavioral closeness, the lower the likelihood of substance use; however, there were considerable moderating effects of sibling gender composition. Anaclitic identification explanations were not supported; closeness and elder sibling substance use did not interact to predict younger sibling substance use. Overall, this research adds to a body of work demonstrating important sibling influences on adolescent substance use. PMID:21988080

  9. Sibling relationship quality moderates the associations between parental interventions and siblings' independent conflict strategies and outcomes.

    Science.gov (United States)

    Recchia, Holly E; Howe, Nina

    2009-08-01

    This study extends research on sibling conflict strategies and outcomes by examining unique and interactive associations with age, relative birth order, sibling relationship quality, and caregivers' interventions into conflict. Each of 62 sibling dyads (older sibling mean age = 8.39 years; younger sibling mean age = 6.06 years) discussed 1 recurring conflict alone (dyadic negotiation) and a 2nd conflict with their primary parental caregiver (triadic negotiation). Negotiations were coded for children's conflict strategies, outcomes, and caregiver interventions; each family member provided ratings of sibling relationship quality. Results revealed that age was associated with siblings' constructive strategies, particularly in the dyadic negotiation. With age controlled, younger siblings referred more frequently to their own perspective. Caregivers' future orientation in the triadic negotiation was associated with children's future orientation in the dyadic negotiation; however, this association was most evident when sibling relationship quality was high. Similarly, caregivers' past orientation was positively associated with dyadic compromise, especially when relationship quality was high. Results reveal the value of simultaneously considering associations among parental, affective, and developmental correlates of sibling conflict strategies. (PsycINFO Database Record (c) 2009 APA, all rights reserved).

  10. HLA-E expression by gynecological cancers restrains tumor-infiltrating CD8(+) T lymphocytes

    NARCIS (Netherlands)

    Gooden, Marloes; Lampen, Margit; Jordanova, Ekaterina S.; Leffers, Ninke; Trimbos, J. Baptist; van der Burg, Sjoerd H.; Nijman, Hans; van Hall, Thorbald

    2011-01-01

    HLA-E is a nonclassical HLA class I molecule, which differs from classical HLA molecules by its nonpolymorphic, conserved nature. Expression and function of HLA-E in normal tissues and solid tumors is not fully understood. We investigated HLA-E protein expression on tissue sections of 420 ovarian

  11. Support Needs of Siblings of People with Developmental Disabilities

    Science.gov (United States)

    Arnold, Catherine K.; Heller, Tamar; Kramer, John

    2012-01-01

    This qualitative study examines the support needs of adult siblings of people with developmental disabilities. A survey completed by 139 siblings of people with developmental disabilities captured the needs of adult siblings through 2 open-ended questions. A grounded theory approach was used, and the sibling responses anchored the analysis,…

  12. Parental Divorce and Sibling Relationships: A Research Note

    Science.gov (United States)

    Poortman, Anne-Rigt; Voorpostel, Marieke

    2009-01-01

    This study examines long-term effects of parental divorce on sibling relationships in adulthood and the role of predivorce parental conflict. It used large-scale retrospective data from the Netherlands that contain reports from both siblings of the sibling dyad. Results show limited effects of parental divorce on sibling contact and relationship…

  13. Siblings and Theory of Mind in Deaf Native Signing Children.

    Science.gov (United States)

    Woolfe, Tyron; Want, Stephen C.; Siegal, Michael

    2003-01-01

    A study examined the basis of "theory of mind" (ToM) reasoning in 20 native signers (ages 4-8) of British Sign Language. Children and their siblings were given a measure of the quality of sibling relations. Sibling quality as perceived by siblings predicted children's ToM score over age and referential communication. (Contains…

  14. Older (but Not Younger) Siblings Facilitate False Belief Understanding.

    Science.gov (United States)

    Ruffman, Ted; Perner, Josef; Naito, Mika; Parkin, Lindsay; Clements, Wendy A.

    1998-01-01

    Four experiments and an analysis of pooled data from English and Japanese children show a linear increase in understanding false beliefs with number of older siblings; no such effect for children younger than 38 months; no helpful effect of younger siblings at any age; no effect of siblings' gender; and no helpful effect of siblings on a source…

  15. Differential Parental Treatment, Sibling Relationships and Delinquency in Adolescence

    Science.gov (United States)

    Scholte, Ron H. J.; Engels, Rutger C. M. E.; de Kemp, Raymond A. T.; Harakeh, Zeena; Overbeek, Geertjan

    2007-01-01

    The present study examined the moderating effect of the quality of the sibling relationship on the longitudinal association of parental treatment with theft, vandalism, and violence in adolescence. Participants were 416 sibling pairs which were studied over a one-year period. The younger siblings were aged 13 to 15, the older siblings 14 to 17 at…

  16. Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing.

    Science.gov (United States)

    Kakourou, Georgia; Vrettou, Christina; Kattamis, Antonis; Destouni, Aspasia; Poulou, Myrto; Moutafi, Maria; Kokkali, Georgia; Pantos, Konstantinos; Davies, Stephen; Kitsiou-Tzeli, Sophia; Kanavakis, Emmanuel; Traeger-Synodinos, Joanne

    2016-01-01

    Preimplantation genetic diagnosis (PGD) to select histocompatible siblings to facilitate curative haematopoeitic stem-cell transplantation (HSCT) is now an acceptable option in the absence of an available human leukocyte antigen (HLA) compatible donor. We describe a case where the couple who requested HLA-PGD, were both carriers of two serious haematological diseases, beta-thalassaemia and sideroblastic anaemia. Their daughter, affected with sideroblastic anaemia, was programmed to have HSCT. A multiplex-fluorescent-touchdown-PCR protocol was optimized for the simultaneous amplification of: the two HBB-gene mutated regions (c.118C> T, c.25-26delAA), four short tandem repeats (STRs) in chr11p15.5 linked to the HBB gene, the SLC25A38 gene mutation (c.726C > T), two STRs in chr3p22.1 linked to the SLC25A38 gene, plus eleven informative STRs for HLA-haplotyping (chr6p22.1-21.3). This was followed by real-time nested PCR and high-resolution melting analysis (HRMA) for the detection of HBB and SLC25A38 gene mutations, as well as the analysis of all STRs on an automatic genetic analyzer (sequencer). The couple completed four clinical in vitro fertilization (IVF)/PGD cycles. At least one matched unaffected embryo was identified and transferred in each cycle. A twin pregnancy was established in the fourth PGD cycle and genotyping results at all loci were confirmed by prenatal diagnosis. Two healthy baby girls were delivered at week 38 of pregnancy. The need to exclude two familial disorders for HLA-PGD is rarely encountered. The methodological approach described here is fast, accurate, clinically-validated, and of relatively low cost.

  17. Medical Identity

    DEFF Research Database (Denmark)

    Musaeus, Peter

    2015-01-01

    Purpose: To examine philosophical stances underpinning medical identity and assess the conceptual relationship between physician, medical practice and culture. Argument: Medical identity is about the ideals and moral positions that physicians take when justifying themselves. Medical identity...... hedonistic versus sentimentalist approaches to medical identity. The sociocultural philosophical analysis of medical identity can shed light on what it means conceptually for a physician to harbor beliefs associated with him/her being taken to be an autonomous professional. It is important because it touches...... on the meaning of being a compassionate, good and skilled physician, making its relevance to person-centered medicine self-evident. Conclusion: Medical identity should be analyzed with reference to literature, philosophy and medical practice in order for the physician to exercise a reflective position...

  18. Identity paradoxes

    Directory of Open Access Journals (Sweden)

    Đurić Jelena

    2010-01-01

    Full Text Available The article considers paradoxical nature of identity that emerges from: 1 the very concept of identity whose abstract generality unites various and even opposite features; 2 the processual nature of reality that is easier to express in the poetical metaphors or abstract principles than in unambiguous conceptual networks; 3 the oppose relationship between being and knowledge, mind and matter, subject and object, self and personality. Entangled in the labyrinth which evade efforts to be conceptually defined, the modern thinking of identity moves towards abandoning the idea of “self” on behalf of the “ego” and towards the misapprehension of identity as being identical. This corresponds to the “time of the lost spirit” stretched between the simultaneous need to find an identity and to give it up.

  19. Sibling relationships in individuals with Angelman syndrome: a comparative study.

    Science.gov (United States)

    Love, Victoria; Richters, Lotte; Didden, Robert; Korzilius, Hubert; Machalicek, Wendy

    2012-01-01

    Investigating the impact of Angelman syndrome on the sibling relationship. This study explored differences in sibling relationships between children with a typically-developing sibling (n = 55) and children with a sibling with Angelman syndrome (n = 44). Sibling relationships were compared on four factors and 16 sub-scales of the Sibling Relationship Questionnaire-Revised. Results showed significant differences in mean scores on each of the four factors (i.e. Warmth/Closeness, Conflict, Rivalry and Dominance/Nurturance) and most of the sub-scales. ANCOVAs showed that demographic variables (number of siblings, living in a two-parent vs single parent household, gender, participant's age, place of residence) did not influence significant differences in sibling relationships between the two groups. Having a brother or sister with Angelman syndrome may influence the way in which the sibling perceives the sibling relationship. This may have important implications for family-centred intervention for this population.

  20. Xeroderma Pigmentosum: Variable Expressions among Three Siblings

    Directory of Open Access Journals (Sweden)

    M Srinivasa Raju

    2010-01-01

    Full Text Available Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development. The frequency of this disorder is approximately 1 case per 250.000 population. Two important causes of mortality are metastatic malignant melanoma and squamous cell carcinoma. Here xeroderma pigmentosum in three siblings presenting with variable expressions is reported. The seventy of the condition was more in one of the more sun exposed sibling and had more signs of malignant lesions. Intraoral pigmentation was also present in all the three siblings.

  1. HLA class I-mediated control of HIV-1 in the Japanese population, in which the protective HLA-B*57 and HLA-B*27 alleles are absent.

    Science.gov (United States)

    Naruto, Takuya; Gatanaga, Hiroyuki; Nelson, George; Sakai, Keiko; Carrington, Mary; Oka, Shinichi; Takiguchi, Masafumi

    2012-10-01

    We investigated the effect of HLA class I alleles on clinical parameters for HIV-1 disease progression in the Japanese population, where two strongly protective alleles, HLA-B*57 and HLA-B*27, are virtually nonexistent. HLA-B alleles showed a dominant role, primarily through HLA-B*67:01 and the HLA-B*52:01-C*12:02 haplotype. Neither a rare-allele nor a heterozygote advantage was found, suggesting that the effect of HLA alleles in the Japanese population is either different from those observed in Africans and Caucasians or undetectable due to limited power.

  2. Identity Management

    Data.gov (United States)

    Social Security Administration — Provides information for identity management services on the creation, modification and eventual deletion of accounts and entitlements based on user relationships on...

  3. Identity Assemblages

    DEFF Research Database (Denmark)

    Horn, Line Helverskov

    The study aims at exploring how identity is enacted within the context of a two-year programme in Service, Hospitality, and Tourism Management (SHTM). This research thus investigates how students and educators go about their daily lives in different educational contexts both on and off campus...... as a contribution to the body of literature of ANT-based studies. Second, it contributes to existing identity theories by exemplifying a socio-material approach to identity issues. Third, the study enables reflections upon how educational institutions as fundamentally identity-producing organisations acknowledge...

  4. Civil Identity

    DEFF Research Database (Denmark)

    Petersen, Lars Axel

    In this paper I will go through a catalogue of examples of contexts in which the term civil identity is currently used, ranging from the formal and technical process of linking a set of administrative and other events to an individual biological person by means of identity cards, fingerprints, iris...... of Israel to Luce Irigaray's Feminist agenda of elaborating gender specific civil identities. My intention is to investigate whether these different employments of 'civil identity' point towards a common, and fairly well defined object field asking questions of contemporary relevance to the philosophy...

  5. Human leukocyte antigen (HLA class I restricted epitope discovery in yellow fewer and dengue viruses: importance of HLA binding strength.

    Directory of Open Access Journals (Sweden)

    Ole Lund

    Full Text Available Epitopes from all available full-length sequences of yellow fever virus (YFV and dengue fever virus (DENV restricted by Human Leukocyte Antigen class I (HLA-I alleles covering 12 HLA-I supertypes were predicted using the NetCTL algorithm. A subset of 179 predicted YFV and 158 predicted DENV epitopes were selected using the EpiSelect algorithm to allow for optimal coverage of viral strains. The selected predicted epitopes were synthesized and approximately 75% were found to bind the predicted restricting HLA molecule with an affinity, K(D, stronger than 500 nM. The immunogenicity of 25 HLA-A*02:01, 28 HLA-A*24:02 and 28 HLA-B*07:02 binding peptides was tested in three HLA-transgenic mice models and led to the identification of 17 HLA-A*02:01, 4 HLA-A*2402 and 4 HLA-B*07:02 immunogenic peptides. The immunogenic peptides bound HLA significantly stronger than the non-immunogenic peptides. All except one of the immunogenic peptides had K(D below 100 nM and the peptides with K(D below 5 nM were more likely to be immunogenic. In addition, all the immunogenic peptides that were identified as having a high functional avidity had K(D below 20 nM. A*02:01 transgenic mice were also inoculated twice with the 17DD YFV vaccine strain. Three of the YFV A*02:01 restricted peptides activated T-cells from the infected mice in vitro. All three peptides that elicited responses had an HLA binding affinity of 2 nM or less. The results indicate the importance of the strength of HLA binding in shaping the immune response.

  6. First-born siblings show better second language skills than later born siblings

    OpenAIRE

    Karin eKeller; Karin eKeller; Larissa Maria Troesch; Alexander eGrob

    2015-01-01

    We examined the extent to which three sibling structure variables number of siblings, birth order and presence of an older sibling at school age are linked to the second language skills of bilingual children. The research questions were tested using an ethnically heterogeneous sample of 1209 bilingual children with German as a second language. Controlling for children’s age, sex, nationality, number of children’s books at home, family language and parental German language skills, hierarchical...

  7. Characterization of monoclonal antibodies recognizing HLA-G or HLA-E: new tools to analyze the expression of nonclassical HLA class I molecules

    Czech Academy of Sciences Publication Activity Database

    Menier, C.; Saez, B.; Hořejší, Václav; Martinozzi, S.; Krawice-Radanne, I.; Bruel, S.; Le Danff, C.; Reboul, M.; Hilgert, Ivan; Rabreau, M.; Larrad, M. L.; Pla, M.; Carosella, E. D.; Rouas-Freiss, N.

    2003-01-01

    Roč. 64, č. 3 (2003), s. 315-326 ISSN 0198-8859 R&D Projects: GA MŠk LN00A026 Institutional research plan: CEZ:AV0Z5052915 Keywords : HLA-G * HLA-E * monoclonal antibody Subject RIV: EC - Immunology Impact factor: 2.619, year: 2003

  8. The role of older siblings in infant motor development

    OpenAIRE

    Leonard, Hayley; Hill, EL

    2016-01-01

    Previous research has suggested that infant motor skills may be affected by older siblings, but has not considered whether this is due to specific characteristics of the older sibling, or of the quality of the sibling relationship. The current study used a longitudinal diary method to record infant motor milestones from 23 infants with older siblings, along with parent reports and standardised assessments of motor skills. Parent reports of the older siblings’ motor skills and the sibling rela...

  9. Attachment representations, parental differential treatment and sibling relationships.

    OpenAIRE

    Goodman, E.

    2005-01-01

    The purpose of this review is to examine the literature on siblings and sibling relationships. To outline the importance of this under-researched field the review details the link between sibling relationship quality and individual psychosocial outcome. Initial research into the area started with investigations of the influence of structural variables and temperament on sibling relationship quality but found that they explained only a small proportion of the variance in sibling relationship q...

  10. Role of HLA adaptation in HIV evolution

    DEFF Research Database (Denmark)

    Kløverpris, Henrik N.; Leslie, Alasdair; Goulder, Philip

    2016-01-01

    Killing of HIV-infected cells by CD8+ T-cells imposes strong selection pressure on the virus toward escape. The HLA class I molecules that are successful in mediating some degree of control over the virus are those that tend to present epitopes in conserved regions of the proteome, such as in p24...... Gag, in which escape also comes at a significant cost to viral replicative capacity (VRC). In some instances, compensatory mutations can fully correct for the fitness cost of such an escape variant; in others, correction is only partial. The consequences of these events within the HIV-infected host......, and at the population level following transmission of escape variants, are discussed. The accumulation of escape mutants in populations over the course of the epidemic already shows instances of protective HLA molecules losing their impact, and in certain cases, a modest decline in HIV virulence in association...

  11. HLA-G genotype is associated with fetoplacental growth

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert

    2004-01-01

    The human leukocyte antigen (HLA)-G is expressed by extravillous cytotrophoblast cells in the feto-maternal contact zone. Polymorphisms have been described in the HLA-G gene and have been linked with differences in HLA-G mRNA alternative splicing patterns and protein expression. Differences...... in the isoform profile or the degree of HLA-G expression may influence cytokine production and, thereby, placental and fetal growth. Associations between a 14 bp deletion polymorphism in the 3'UTR part of the HLA-G gene and birth weight in relation to gestational age and placental weight were studied in 47...... pregnancies complicated with preeclampsia and 87 with no preeclampsia. An HLA-G genotype homozygous for the presence of the 14 bp sequence polymorphism was significantly associated with increased birth weight in relation to gestational age (one-way analysis of variance; 2 degrees of freedom: p = 0...

  12. Involvement of position-147 for HLA-E expression

    International Nuclear Information System (INIS)

    Matsunami, Katsuyoshi; Kusama, Tamiko; Okura, Eiji; Shirakura, Ryota; Fukuzawa, Masahiro; Miyagawa, Shuji

    2006-01-01

    HLA-E functions as an inhibitory signaling molecule of natural killer (NK) cell-mediated cytolysis. However, the cell surface expression of HLA-E molecules is quite restricted because of the limited repertoire of binding peptide sequences, such as signal peptides of other HLA molecules, especially on xenogeneic cells. In this study, we successfully determined that position-147 is an important amino acid position for cell surface expression by producing point substitutions. For further studies concerning transplantation therapy, the point substitution, Ser147Cys, that resulted in a single atom change, oxygen to sulfur, designated as HLA-Ev(147), led to a much higher expression on the human and pig cell surface and a greater inhibitory function against human NK cells than wild type HLA-E in an in vitro model system of pig to human xenotransplantation. Consequently, HLA-Ev(147) might be a promising alternative gene tool for future transplantation therapy such as xenotransplantation

  13. Sibling relationships in adults who have siblings with or without intellectual disabilities.

    Science.gov (United States)

    Doody, Mairéad A; Hastings, Richard P; O'Neill, Sarah; Grey, Ian M

    2010-01-01

    There is relatively little research on the relationships between adults with intellectual disability and their siblings, despite the potential importance of these relationships for either individual's psychological well-being and future care roles that might be adopted by adult siblings. In the present study, sibling relationships of adults with adult siblings with (N=63) and without (N=123) intellectual disability were explored. Contact, warmth, conflict, and rivalry were measured using questionnaires available as an on-line survey. Expressed emotion was measured using the Five Minute Speech Sample over the telephone to establish an independently coded measure of criticism from the participant towards their sibling. Overall, there were few group differences in contact and sibling relationship. There was less telephone contact in the intellectual disability group, and less reported warmth in the relationship with siblings with intellectual disability although this was mainly associated with severe/profound intellectual disability. Exploratory analyses were conducted of the correlates of sibling relationships in both the intellectual disability and control groups. These analyses revealed a small number of different associations especially for conflict, which was lower when either the participant or sibling was younger in the control group but associated with relative age in the intellectual disability group.

  14. Child passenger injury risk in sibling versus non-sibling teen driver crashes: a US study.

    Science.gov (United States)

    Senserrick, Teresa M; Kallan, Michael J; Winston, Flaura K

    2007-06-01

    Several international jurisdictions allow family exemptions to graduated driver licensing passenger restrictions. The objective of this research was to examine differences in injury risk to US child passengers in crashes involving sibling versus non-sibling teen drivers, and to compare outcomes with crashes involving adult drivers. Insurance claim and telephone survey data were collected on 16 233 child passengers (representing 289 329 children) in 17 US jurisdictions. There was a trend toward higher restraint non-use by child passengers in the non-sibling group than in the sibling group (9.6% vs 4.7%; p = 0.08). Children in the sibling group had a 40% lower risk of injury than those in the non-sibling group (adjusted OR 0.60, 95% CI 0.40 to 0.90); however, injury risk was higher in the sibling group than in children traveling with adults (adjusted OR 1.57, 95% CI 1.09 to 2.26). Child passengers riding with sibling teen drivers may be safer than those riding with non-sibling teens, but not as safe as those riding with adult drivers.

  15. HLA: The Major Histocompatibility Complex of Man

    Science.gov (United States)

    1991-01-01

    be used in conjunction with asthma, hay fever, urticaria, and eczema have been solid organ transplantations. Numerous new ap- sought but have not been...IgE levels are controlled by a second. non-HLA-linked Raum (1981) and Svejgaard (1983) have reported ex- locus (or loci). Atopic patients showed an...Products Asia-Oceania ttistocompatibility Workshop Conference. Sapporo. Japan . Hlokkaido University Press. 1986. Alper. CA.. Awdeh. Z.L.. Raum. D.D

  16. HLA polymorphism in Sudanese renal donors

    Directory of Open Access Journals (Sweden)

    Ameer M Dafalla

    2011-01-01

    Full Text Available The main objective of this study is to provide a database for renal transplantation in Sudan and to determine the HLA antigens and haplotype frequencies (HFs in the study subjects. HLA typing was performed using the complement-dependant lymphocytotoxicity test in 250 unrelated healthy individuals selected as donors in the Sudanese Renal Transplantation Program. Considerable polymorphism was observed at each locus; A2 (0.28, A30 (0.12, A3 (0.09, A24 (0.09, A1 (0.09, and A68 (0.06 were the most frequent antigens in the A locus, while B51 (0.092, B41 (0.081, B39 (0.078, B57 (0.060, B35 (0.068, B 50 (0.053 and B 52 (0.051 were the most common B locus antigens. DR13 (0.444 and DR15 (0.160 showed the highest antigen frequencies (AFs in the DR locus. In the DQ locus, DQ1 showed the highest gene frequency (0.498, while DQ2 and DQ3 AFs were (0.185 and (0.238, respectively. The most common HLA-A and -B haplotypes in positive linkage disequilibrium were A24, B38; A1, B7; and A3, B52. The common HLA-A and -B HFs in positive linkage disequilibrium in the main three tribe-stocks of the study subjects (Gaalia, Nile Nubian and Johyna were A24, B38 for Gaalia; A24, B38 and A2, B7 for Johyna; and A2, B64 and A3, B53 for Nile Nubian. These results suggest that both class I and class II polymorphisms of the study subjects depict considerable heterogeneity, which reflects recent admixture of this group with neighboring Arabs and African populations.

  17. Adopting HLA standard for interdependency study

    International Nuclear Information System (INIS)

    Nan, Cen; Eusgeld, Irene

    2011-01-01

    In recent decades, modern Critical Infrastructure (CI) has become increasingly automated and interlinked as more and more resources and information are required to maintain its day-to-day operation. A system failure, or even just a service debilitation, of any CI may have significant adverse effects on other infrastructures it is connected/interconnected with. It is vital to study the interdependencies within and between CIs and provide advanced modeling and simulation techniques in order to prevent or at least minimize these adverse effects. The key limitation of traditional mathematical models such as complex network theory is their lacking the capabilities of providing sufficient insights into interrelationships between CIs due to the complexities of these systems. A comprehensive method, a hybrid approach combining various modeling/simulation techniques in a distributed simulation environment, is presented in this paper. High Level Architecture (HLA) is an open standard (IEEE standard 1516) supporting simulations composed of different simulation components, which can be regarded as the framework for implementing such a hybrid approach. The concept of adopting HLA standard for the interdependency study is still under discussion by many researchers. Whether or not this HLA standard, or even the distributed simulation environment, is able to meet desired model/simulation requirements needs to be carefully examined. This paper presents the results from our experimental test-bed, which recreates the architecture of a typical Electricity Power Supply System (EPSS) with its own Supervisory Control and Data Acquisition (SCADA) system, for the purpose of investigating the capabilities of the HLA technique as a standard to perform interdependency studies.

  18. HLA-D: The T Cell Perspective

    Science.gov (United States)

    1985-01-01

    offspring of consanguineous marriage, in which case the cells are almost always homosygous for all HLA-region products; in other cases, HTCs are...story. Certain relationships exist between the class II serologically defined (I&) and T lymphocyte defined (Dw/LD) specificities. One speaks of one...DRwI4 specificities; in addition, certain of the DRI-DRwl4 specificities are supertypic to the various Dw specificities. The relationships of these

  19. GDEVS/HLA Environment: A Time Management Improvement

    OpenAIRE

    Zacharewicz , Gregory; Giambiasi , Norbert; Frydman , Claudia

    2005-01-01

    International audience; This paper presents a distributed discrete event simulation environment based on GDEVS and HLA concepts. The chosen local simulation structure is “flatten” to reduce the exchange of messages between simulation components regarding with classical structure of DEVS simulators. Moreover, we present an integration method to create GDEVS models HLA-compliant; for that purpose, we introduce an effective algorithm of conservative synchronization using the HLA lookahead and so...

  20. Siblings in the context of anorexia nervosa.

    Science.gov (United States)

    Bachner-Melman, Rachel

    2005-01-01

    Sibling relationships may be relevant to the development of anorexia nervosa (AN), yet little research has focused on this aspect of the disorder. A narrative study of four women in various stages of recovery from AN is described and results relevant to sibling relationships are presented, enriched by published anecdotes and case studies. The anorexic interviewees described much antagonism and rivalry and little warmth and intimacy between themselves and their siblings. They seemed to feel they did not belong sufficiently in their families and other social settings despite a strong desire to belong. The sample is small, reports subjective and retrospective and no control group was included. It is suggested that anorexic girls often feel emotionally isolated from and misunderstood by siblings, who may have much to contribute to the process of therapy and recovery.

  1. Bridging Identities

    Science.gov (United States)

    Deaux, Kay; Burke, Peter

    2010-01-01

    Sociology and psychology are no strangers in the theoretical world of self and identity. Early works by William James (1890), a psychologist, and George Herbert Mead (1934), a sociologist, are often taken as a starting point by investigators in both fields. In more recent years, with the development of a number of identity theories in both fields,…

  2. Brand Identity.

    Science.gov (United States)

    Lawlor, John

    1998-01-01

    Instead of differentiating themselves by building "brand identities," colleges and universities often focus on competing with price. As a result, fewer and fewer institutions base their identities on value, the combination of quality and price. Methods of building two concepts to influence customers' brand image and brand loyalty are…

  3. Ritual Identity

    NARCIS (Netherlands)

    van der Beek, Suzanne

    2017-01-01

    Rituals are often used as opportunities for self-reflection and identity construction. The Camino to Santiago de Compostela, which has become a singularly popular pilgrimage since the late 1980s, is an example of a ritual that is explicitly used to gain a deeper understanding of one’s identity

  4. Organizational Identity

    DEFF Research Database (Denmark)

    Hatch, Mary Jo; Schultz, Majken

    This text presents the classic works on organizational identity alongside more current thinking on the issues. Ranging from theoretical contributions to empirical studies, the readings in this volume address the key issues of organizational identity, and show how these issues have developed through...

  5. Challenging Identities

    DEFF Research Database (Denmark)

    Identity is a keyword in a number of academic fields as well as in public debate and in politics. During the last decades, references to identity have proliferated, yet there is no simple definition available that corresponds to the use of the notion in all contexts. The significance of the notion...

  6. Psychosis among "healthy" siblings of schizophrenia patients

    OpenAIRE

    Arajärvi, Ritva; Ukkola, Jonna; Haukka, Jari; Suvisaari, Jaana; Hintikka, Jukka; Partonen, Timo; Lönnqvist, Jouko

    2006-01-01

    Abstract Background Schizophrenia aggregates in families and accurate diagnoses are essential for genetic studies of schizophrenia. In this study, we investigated whether siblings of patients with schizophrenia can be identified as free of any psychotic disorder using only register information. We also analyzed the emergence of psychotic disorders among siblings of patients with schizophrenia during seven to eleven years of follow-up. Methods A genetically homogenous population isolate in no...

  7. Successful Renal Transplantation Across HLA Barrier: Report from India.

    Science.gov (United States)

    Aggarwal, G; Tiwari, A K; Dorwal, P; Chauhan, R; Arora, D; Dara, R C; Kher, V

    2017-01-01

    Organ donors are sometimes found "unsuitable" due to the presence of donor-specific anti-HLA antibodies in the recipient. In recent years, improved desensitization protocols have successfully helped to overcome HLA incompatibility hurdle. We present three cases where optimum desensitization was achieved in patients with the donor-specific anti-HLA antibody (DSA) leading to successful renal transplantation. All patient-donor pair underwent HLA typing, complement dependent cytotoxicity crossmatch (CDC-XM), flow cytometry XM (FC-XM), and panel reactive antibody. If any of the three tests was positive, single antigen bead assay was performed to determine the specificity of the anti-HLA antibody (s). Patients with DSA were offered organ-swap or anti-HLA antibody desensitization followed by transplantation. Desensitization protocol consisted of single dose rituximab and cascade plasmapheresis (CP) along with standard triple immunosuppression. The target DSA mean fluorescence index (MFI) was HLA DSA, who did not find a suitable match in organ swap program, consented to anti-HLA antibody desensitization, followed by transplantation. Mean pre-desensitization antibody MFI was 1740 (1422-2280). Mean number of CP required to achieve the target MFI was 2.3 (2-3). All the three patients are on regular follow-up and have normal renal function test at a mean follow-up of 8 months. This report underlines successful application of desensitization protocol leading to successful HLA-antibody incompatible renal transplants and their continued normal renal functions.

  8. The Dual Role of HLA-G in Cancer

    Directory of Open Access Journals (Sweden)

    Nathalie Rouas-Freiss

    2014-01-01

    Full Text Available We here review the current data on the role of HLA-G in cancer based on recent findings of an unexpected antitumor activity of HLA-G in hematological malignancies. For the past decade, HLA-G has been described as a tumor-escape mechanism favoring cancer progression, and blocking strategies have been proposed to counteract it. Aside from these numerous studies on solid tumors, recent data showed that HLA-G inhibits the proliferation of malignant B cells due to the interaction between HLA-G and its receptor ILT2, which mediates negative signaling on B cell proliferation. These results led to the conjecture that, according to the malignant cell type, HLA-G should be blocked or conversely induced to counteract tumor progression. In this context, we will here present (i the dual role of HLA-G in solid and liquid tumors with special emphasis on (ii the HLA-G active structures and their related ILT2 and ILT4 receptors and (iii the current knowledge on regulatory mechanisms of HLA-G expression in tumors.

  9. Fashioning Identity

    DEFF Research Database (Denmark)

    Mackinney-Valentin, Maria

    We dress to communicate who we are, or who we would like others to think we are, telling seductive fashion narratives through our adornment. Yet, today, fashion has been democratized through high-low collaborations, social media and real-time fashion mediation, complicating the basic dynamic...... of identity displays, and creating tension between personal statements and social performances. Fashioning Identity explores how this tension is performed through fashion production and consumption,by examining a diverse series of case studies - from ninety-year old fashion icons to the paradoxical rebellion...... by readdressing Fred Davis' seminal concept of 'identity ambivalence' in Fashion, Culture and Identity (1992), Mackinney-Valentin argues that we are in an epoch of 'status ambivalence', in which fashioning one's own identity has become increasingly complicated....

  10. The association between unequal parental treatment and the sibling relationship in Finland: The difference between full and half-siblings.

    Science.gov (United States)

    Danielsbacka, Mirkka; Tanskanen, Antti O

    2015-06-24

    Studies have shown that unequal parental treatment is associated with relationship quality between siblings. However, it is unclear how it affects the relationship between full and half-siblings. Using data from the Generational Transmissions in Finland project (n = 1,537 younger adults), we study whether those who have half-siblings perceive more unequal parental treatment than those who have full siblings only. In addition, we study how unequal parental treatment is associated with sibling relationship between full, maternal, and paternal half-siblings. First, we found that individuals who have maternal and/or paternal half-siblings are more likely to have encountered unequal maternal treatment than individuals who have full siblings only. Second, we found that unequal parental treatment impairs full as well as maternal and paternal half-sibling relations in adulthood. Third, unequal parental treatment mediates the effect of genetic relatedness on sibling relations in the case of maternal half-siblings, but not in the case of paternal half-siblings. After controlling for unequal parental treatment, the quality of maternal half-sibling relationships did not differ from that of full siblings, whereas the quality of paternal half-sibling relationships still did. Fourth, the qualitative comments (n = 206) from the same population reveal that unequal parental treatment presents itself several ways, such as differential financial, emotional, or practical support.

  11. The Association between Unequal Parental Treatment and the Sibling Relationship in Finland: The Difference between Full and Half-Siblings

    Directory of Open Access Journals (Sweden)

    Mirkka Danielsbacka

    2015-04-01

    Full Text Available Studies have shown that unequal parental treatment is associated with relationship quality between siblings. However, it is unclear how it affects the relationship between full and half-siblings. Using data from the Generational Transmissions in Finland project (n = 1,537 younger adults, we study whether those who have half-siblings perceive more unequal parental treatment than those who have full siblings only. In addition, we study how unequal parental treatment is associated with sibling relationship between full, maternal, and paternal half-siblings. First, we found that individuals who have maternal and/or paternal half-siblings are more likely to have encountered unequal maternal treatment than individuals who have full siblings only. Second, we found that unequal parental treatment impairs full as well as maternal and paternal half-sibling relations in adulthood. Third, unequal parental treatment mediates the effect of genetic relatedness on sibling relations in the case of maternal half-siblings, but not in the case of paternal half-siblings. After controlling for unequal parental treatment, the quality of maternal half-sibling relationships did not differ from that of full siblings, whereas the quality of paternal half-sibling relationships still did. Fourth, the qualitative comments (n = 206 from the same population reveal that unequal parental treatment presents itself several ways, such as differential financial, emotional, or practical support.

  12. Risk of maltreatment for siblings: Factors associated with similar and different childhood experiences in a dyadic sample of adult siblings.

    Science.gov (United States)

    Witte, Susanne; Fegert, Jörg M; Walper, Sabine

    2018-02-01

    Siblings share the same environment and thus potentially a substantial number of risk factors for child maltreatment. Furthermore, the number of siblings and the sibling constellation itself might pose a risk for child maltreatment. Little is known about the likelihood that more than one child in a family is maltreated and which factors increase the risk. This study sought to investigate similarities and differences in maltreatment in siblings and risk factors associated with the maltreatment of more than one child from the same family. Data on maltreatment during childhood and adolescence, family background, and sibling constellation were collected from 870 pairs of siblings. In the dyadic analyses, siblings reported similar maltreatment experiences, especially when any type of maltreatment was considered. Parents' mental health problems were significant predictors for maltreatment of at least one sibling. Father's mental health problems were predictive of maltreatment of both or only the younger sibling, mother's mental health problems of both or only the older sibling. Closeness in age and same gender of siblings did not emerge as a consistent predictor. The increasing number of siblings was a risk factor for any type of maltreatment of both siblings. The results highlight the need for preventive measures for families with a large number of children and with parents with mental health problems as well as a repeated risk assessment of all siblings in a family when one sibling was maltreated. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Frequency determination of HLA-DRB1 and HLA-DQB1 alleles in children with primary vesicoureteral reflux

    Directory of Open Access Journals (Sweden)

    Mohammadreza Bazrafshani

    2014-12-01

    Conclusion: The HLA cluster might affect on susceptibility to vesicoureteral reflux es-pecially by locus which located close to HLA-DRB1 and HLA-DQB1 genes. This study demonstrates for the first time in Iran. However, further extensive researches with a large number of samples from different populations and ethnicities are required to val-idate the results obtained in this study.

  14. Human Leukocyte Antigen (HLA) Class I Restricted Epitope Discovery in Yellow Fewer and Dengue Viruses: Importance of HLA Binding Strength

    DEFF Research Database (Denmark)

    Lund, Ole; Nascimento, Eduardo J. M.; Maciel, Milton, Jr

    2011-01-01

    Epitopes from all available full-length sequences of yellow fever virus (YFV) and dengue fever virus (DENV) restricted by Human Leukocyte Antigen class I (HLA-I) alleles covering 12 HLA-I supertypes were predicted using the NetCTL algorithm. A subset of 179 predicted YFV and 158 predicted DENV...... inoculated twice with the 17DD YFV vaccine strain. Three of the YFV A*02:01 restricted peptides activated T-cells from the infected mice in vitro. All three peptides that elicited responses had an HLA binding affinity of 2 nM or less. The results indicate the importance of the strength of HLA binding...

  15. Impact of childhood chronic illnesses on siblings: a literature review.

    Science.gov (United States)

    O' Brien, Irene; Duffy, Anita; Nicholl, Honor

    Childhood illness can have a significant impact on families, particularly on the ill child's siblings. There is a dearth of published literature focusing on the needs of siblings of ill children. This literature review aims to provide an overview of the current healthcare literature in relation to the impact of childhood chronic illness or disability on siblings. A literature review was undertaken by searching the databases CINAHL, PsycINFO, ProQuest and Cochrane Library for relevant articles in English using the search terms: 'siblings', 'chronic illness', 'disability', 'cancer', 'sibling relations', 'sibling adjustment', 'coping', 'family-centred care', 'sibling interventions', 'camps', 'autism', 'Down's syndrome'. Seventeen research studies in total were reviewed. This review focuses on three sibling groups related to children suffering from autism, cancer and Down's syndrome, and are discussed under the following headings: sibling adjustment; family functioning and sibling's coping resources; and intervention programmes. The literature revealed that siblings of children with Down's syndrome were well adjusted to living with their brother or sister. However, there was conflicting information on the adjustment of siblings of children with cancer and autism. An awareness of the harmful effect that living with childhood illness and disability can have on some siblings is essential to enable healthcare professionals to provide supportive interventions to protect siblings' physical and emotional wellbeing.

  16. Identity Management

    CERN Document Server

    Pace, A

    2008-01-01

    This paper introduces identity management concepts and discusses various issues associated with its implementation. It will try to highlight technical, legal, and social aspects that must been foreseen when defining the numerous processes that an identity management infrastructure must support. Grid interoperability as well as cross platform interoperability is addressed on the technical aspect, followed by a short discussion on social consequences on user’s privacy when completed traceability is enforced and some examples on how identity management has been implemented at CERN

  17. Identity management

    Energy Technology Data Exchange (ETDEWEB)

    Pace, A [CERN, Geneva (Switzerland)

    2008-07-01

    This paper introduces identity management concepts and discusses various issues associated with their implementation. It will try to highlight technical, legal, and social aspects that must been foreseen when defining the numerous processes that an identity management infrastructure must support. Grid interoperability as well as cross platform interoperability is addressed on the technical aspect, followed by a short discussion on social consequences on user's privacy when completed traceability is enforced. The paper will finally give some examples on how identity management has been implemented at CERN.

  18. Identity management

    International Nuclear Information System (INIS)

    Pace, A

    2008-01-01

    This paper introduces identity management concepts and discusses various issues associated with their implementation. It will try to highlight technical, legal, and social aspects that must been foreseen when defining the numerous processes that an identity management infrastructure must support. Grid interoperability as well as cross platform interoperability is addressed on the technical aspect, followed by a short discussion on social consequences on user's privacy when completed traceability is enforced. The paper will finally give some examples on how identity management has been implemented at CERN

  19. Electronic identity

    CERN Document Server

    de Andrade, Norberto Nuno Gomes; Argles, David

    2014-01-01

    With the increasing availability of electronic services, security and a reliable means by which identity is verified is essential.Written by Norberto Andrade the first chapter of this book provides an overview of the main legal and regulatory aspects regarding electronic identity in Europe and assesses the importance of electronic identity for administration (public), business (private) and, above all, citizens. It also highlights the role of eID as a key enabler of the economy.In the second chapter Lisha Chen-Wilson, David Argles, Michele Schiano di Zenise and Gary Wills discuss the user-cent

  20. First-born siblings show better second language skills than later born siblings

    Science.gov (United States)

    Keller, Karin; Troesch, Larissa M.; Grob, Alexander

    2015-01-01

    We examined the extent to which three sibling structure variables number of siblings, birth order, and presence of an older sibling at school age are linked to the second language skills of bilingual children. The research questions were tested using an ethnically heterogeneous sample of 1209 bilingual children with German as a second language. Controlling for children’s age, sex, nationality, number of children’s books at home, family language and parental German language skills, hierarchical regression analyses showed an inverse relationship between the number of siblings and second language skills: the more siblings a child had, the lower was his/her second language proficiency. This relationship was mediated by attendance in early education institutions. Moreover, first-born siblings showed better second language skills than later born siblings. The current study revealed that the resource dilution model, i.e., the decrease in resources for every additional sibling, holds for second language acquisition. Moreover, the results indicate that bilingual children from families with several children benefit from access to early education institutions. PMID:26089806

  1. Longitudinal Links between Older Sibling Features and Younger Siblings' Academic Adjustment during Early Adolescence

    Science.gov (United States)

    Bouchey, Heather A.; Shoulberg, Erin K.; Jodl, Kathleen M.; Eccles, Jacquelynne S.

    2010-01-01

    This study investigated prospective relations between older siblings' support and academic engagement and younger siblings' academic adjustment from 7th to post-8th grade. The study was unique in that it incorporated a sample of both African American and European American adolescents. Also investigated was the extent to which the gender…

  2. First-born siblings show better second language skills than later born siblings

    Directory of Open Access Journals (Sweden)

    Karin eKeller

    2015-06-01

    Full Text Available We examined the extent to which three sibling structure variables number of siblings, birth order and presence of an older sibling at school age are linked to the second language skills of bilingual children. The research questions were tested using an ethnically heterogeneous sample of 1209 bilingual children with German as a second language. Controlling for children’s age, sex, nationality, number of children’s books at home, family language and parental German language skills, hierarchical regression analyses showed an inverse relationship between the number of siblings and second language skills: The more siblings a child had, the lower was his/her second language proficiency. This relationship was mediated by attendance in early education institutions. Moreover, first-born siblings showed better second language skills than later born siblings.The current study revealed that the resource dilution model, i.e., the decrease in resources for every additional sibling, holds for second language acquisition. Moreover, the results indicate that bilingual children from families with several children benefit from access to early education institutions.

  3. Sibling Voices: The Self-Reported Mental Health of Siblings of Children with a Disability

    Science.gov (United States)

    Giallo, Rebecca; Gavidia-Payne, Susana; Minett, Belinda; Kapoor, Aparna

    2012-01-01

    Background: There is increasing interest in the experiences and well-being of siblings growing up with a brother or sister with a disability in Australia. However, research to date has primarily obtained parent reports of sibling adjustment and mental health. Therefore, the aim of the current study was threefold: (1) to report on the mental health…

  4. Siblings of Individuals with an Autism Spectrum Disorder: Sibling Relationships and Wellbeing in Adolescence and Adulthood

    Science.gov (United States)

    Orsmond, Gael I.; Kuo, Hsin-Yu; Seltzer, Marsha Mailick

    2009-01-01

    We investigated sibling relationships and wellbeing in adolescents and adults with a sibling with an autism spectrum disorder (ASD). Adolescents engaged in more shared activities than did adults. Adolescents reported greater social support, greater use of emotion-focused coping strategies, and less use of problem-focused coping than adults. In…

  5. Associations between Social Understanding, Sibling Relationship Quality, and Siblings' Conflict Strategies and Outcomes

    Science.gov (United States)

    Recchia, Holly E.; Howe, Nina

    2009-01-01

    Sibling relationship quality and social understanding (second-order false belief, conflict interpretation, and narrative conflict perspective references) were examined as unique and interactive correlates of sibling conflict behavior in 62 dyads (older M age = 8.39 years and younger M age = 6.06 years). High-quality relationships were associated…

  6. Why Siblings Are Important Agents of Cognitive Development: A Comparison of Siblings and Peers.

    Science.gov (United States)

    Azmitia, Margarita; Hesser, Joanne

    1993-01-01

    Found that, in unstructured building sessions, kindergartners were more likely to observe, imitate, and consult their second- or third-grade siblings than their older peers. Older siblings were also more likely to provide additional explanations and positive feedback than older peers when instructing younger children. (MDM)

  7. Associations between social understanding, sibling relationship quality, and siblings' conflict strategies and outcomes.

    Science.gov (United States)

    Recchia, Holly E; Howe, Nina

    2009-01-01

    Sibling relationship quality and social understanding (second-order false belief, conflict interpretation, and narrative conflict perspective references) were examined as unique and interactive correlates of sibling conflict behavior in 62 dyads (older M age = 8.39 years and younger M age = 6.06 years). High-quality relationships were associated with positive conflict processes. Younger siblings' second-order false belief scores were negatively associated with constructive conflict strategies, and older siblings' narrative self-referential focus was negatively associated with compromise. Associations between younger children's social understanding (conflict interpretation and narrative perspective references) and siblings' dyadic conflict behavior were moderated by relationship quality. Results suggest that links between social understanding and conflict behavior should be considered in conjunction with the quality of children's relationships.

  8. Spacing Identity

    DEFF Research Database (Denmark)

    Stang Våland, Marianne; Georg, Susse

    2018-01-01

    In this paper, we analyze how architectural design, and the spatial and material changes this involves, contributes to the continuous shaping of identities in an organization. Based upon a case study of organizational and architectural change in a municipal administration at a time of major public...... sector reforms, we examine how design interventions were used to (re)form work and professional relationships. The paper examines how engagements with spatial arrangements and material artifacts affected people’s sense of both occupational and organizational identity. Taking a relational approach...... to sociomateriality, the paper contributes to the further theorizing of space in organization studies by proposing the concept of spacing identity to capture the fluidity of identity performance....

  9. Quality of Sibling Relationship and Substance Misuse: A Comparative Study

    OpenAIRE

    Anastasia Tsamparli; Elvisa Frrokaj

    2016-01-01

    The aim of the current study is to examine the quality of sibling relationship in families with a sibling with substance misuse (SSU) and compare the relationship to families with a sibling with no use (SNU). Thirty-six (36) families participated in the study (17 with SSU and 19 with SNU; N = 144). Semi-structured interviews were conducted with 40 siblings (20 SNU and 20 SSU; 18-31 years old) in order to qualitatively investigate the characteristics of the sibling relationship. The siblings w...

  10. Mechanisms of sibling socialization in normative family development.

    Science.gov (United States)

    Whiteman, Shawn D; Becerra, Julia M; Killoren, Sarah E

    2009-01-01

    Siblings are important sources of social influence throughout childhood and adolescence. Nevertheless, the processes by which siblings influence one another remain relatively unexplored. We highlight two theories of sibling influence-sibling deidentification and social learning-that offer insights as to how and why siblings develop similar and different attributes, attitudes, and behaviors. Recognizing the need to move past post hoc explanations, we suggest several directions for how these two influence processes can be measured directly in future work. Research on sibling influence also can be improved by integrating these theories and attending to their domains of influence.

  11. Hematopoietic Stem Cell Transplantation Using Preimplantation Genetic Diagnosis and Human Leukocyte Antigen Typing for Human Leukocyte Antigen-Matched Sibling Donor: A Turkish Multicenter Study.

    Science.gov (United States)

    Kurekci, Emin; Küpesiz, Alphan; Anak, Sema; Öztürk, Gülyüz; Gürsel, Orhan; Aksoylar, Serap; Ileri, Talia; Kuşkonmaz, Barış; Eker, İbrahim; Cetin, Mualla; Tezcan Karasu, Gülsün; Kaya, Zühre; Fışgın, Tunç; Ertem, Mehmet; Kansoy, Savaş; Yeşilipek, Mehmet Akif

    2017-05-01

    Preimplantation genetic diagnosis involves the diagnosis of a genetic disorder in embryos obtained through in vitro fertilization, selection of healthy embryos, and transfer of the embryos to the mother's uterus. Preimplantation genetic diagnosis has been used not only to avoid the risk of having an affected child, but it also offers, using HLA matching, preselection of potential HLA-genoidentical healthy donor progeny for an affected sibling who requires bone marrow transplantation. Here, we share the hematopoietic stem cell transplantation results of 52 patients with different benign and malign hematological or metabolic diseases or immunodeficiencies whose donors were siblings born with this technique in Turkey since 2008. The median age of the patients' at the time of the transplantation was 8 years (range, 3 to 16 years) and the median age of the donors was 2 years (range, .5 to 6 years). The most common indication for HSCT was thalassemia major (42 of all patients, 80%). The stem cell source in all of the transplantations was bone marrow. In 37 of the transplantations, umbilical cord blood of the same donor was also used. In 50 of the 52 patients, full engraftment was achieved with a mean of 4.6 × 10 6 CD 34 + cells per kg of recipient weight. Ninety-six percent of the patients have been cured through hematopoietic stem cell transplantation without any complication. Primary engraftment failure was seen in only 2 patients with thalassemia major. All of the donors and the patients are alive with good health status. Preimplantation genetic diagnosis with HLA matching offers a life-saving chance for patients who need transplantation but lack an HLA genoidentical donor. Copyright © 2017 The American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  12. HLA-G polymorphisms and HLA-G expression in sarcoidosis

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F; Milman, Nils; Hylenius, Sine

    2006-01-01

    was investigated in granulomas from sarcoidosis patients with the use of immunohistochemistry. RESULTS: The HLA-G*010102/-G*0106 alleles were observed more often in sarcoidosis patients (39.4%) than in controls (26.4%), p = 0.025 (Fisher's exact test); however, not significant after correction (p(c) = 0.15). When...

  13. HLA and skin cancer HLA e câncer de pele

    Directory of Open Access Journals (Sweden)

    Renan Rangel Bonamigo

    2012-02-01

    Full Text Available Skin cancer - melanoma and non melanoma - are common neoplasm with rising incidence over the last decades. It is an important public health problem. Its pathogenesis is not completely understood and the same happens with the genetic factors involved. The genes that encode the HLA are associated with some tumors and they may be responsible for one of the mechanisms that take part in the development of the before mentioned cancers. We have reviewed the literature on the subject of HLA antigens, melanoma and non melanoma skin cancer.Os cânceres da pele - melanoma e não-melanoma - são neoplasias comuns e com incidência crescente ao longo de décadas. Representam um importante problema de saúde pública. A patogênese destas neoplasias não é completamente compreendida, assim como não o são os fatores genéticos envolvidos. Os genes HLA estão associados a alguns tumores e podem representar um dos mecanismos implicados no desenvolvimento do câncer de pele. Apresenta-se uma revisão atualizada sobre a relação entre antígenos HLA, câncer da pele não-melanoma e melanoma.

  14. Hematopoietic stem cell transplantation from non-sibling matched family donors for patients with thalassemia major in Jordan.

    Science.gov (United States)

    Hussein, Ayad Ahmed; Al-Zaben, Abdulhadi; Khattab, Eman; Haroun, Anas; Frangoul, Haydar

    2016-02-01

    There are limited data on the outcome of patients with thalassemia receiving HSCT from non-sibling matched family donors. Of the 341 patients with thalassemia major that underwent donor search at our center from January 2003 to December 2011, 236 (69.2%) had fully matched family donor of which 28 patients (8.2%) had non-sibling matched family donors identified. We report on seven patients with a median age of eight yr (4-21) who underwent myeloablative (n = 4) or RIC (n = 3) HSCT. The median age of the donors was 33 yr (4-47), three were parents, two first cousins, one paternal uncle, and one paternal aunt. All patients achieved primary neutrophil and platelet engraftment at a median of 18 (13-20) and 16 days (11-20), respectively. One patient developed grade II acute GVHD, and two patients developed limited chronic GVHD. One patient experienced secondary GF requiring a second transplant. At a median follow-up of 69 months (7-110), all patients are alive and thalassemia free. Our data emphasize the need for extended family HLA typing for patients with thalassemia major in regions where there is high rate of consanguinity. Transplant from non-sibling matched family donor can result in excellent outcome. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Identity, identity politics, and neoliberalism

    Directory of Open Access Journals (Sweden)

    Wrenn Mary

    2014-01-01

    Full Text Available With the intensification of neoliberalism, it is useful to examine how some individuals might cope with the irrationality of the system. Neoliberalism cloaks the execution of the corporate agenda behind rhetorical manipulation that advocates for limited government. The corollary absence of government involvement on behalf of the citizenry writ large disarms the means of social redress for the individual. Democracy funded and fueled by corporate power thereby disenfranchises the individual, provoking some to search for empowerment through identity politics. The argument set forth suggests that individuals construct, reinforce, or escalate allegiance to identities as a coping mechanism, some of which manifest in violent identity politics.

  16. HLA typing: Conventional techniques v. next-generation sequencing ...

    African Journals Online (AJOL)

    Background. The large number of population-specific polymorphisms present in the HLA complex in the South African (SA) population reduces the probability of finding an adequate HLA-matched donor for individuals in need of an unrelated haematopoietic stem cell transplantation (HSCT). Next-generation sequencing ...

  17. The role of HLA-E polymorphism in immunological response

    Directory of Open Access Journals (Sweden)

    Milena Iwaszko

    2011-09-01

    Full Text Available The HLA-E protein is one of the most extensively studied MHC class Ib antigens and the least polymorphic one compared to other MHC class I molecules. In the human population there have been reported just ten alleles encoding three different peptides. Only two of these alleles, namely HLA-E*0101 and HLA-E*0103, are widely distributed (around 50�0each. The proteins encoded by these alleles differ from each other in one amino acid at position 107. In HLA-E*0101 it is arginine and in HLA-E*0103 it is glycine. The difference between these proteins manifests itself in surface expression levels, affinities to leader peptides and thermal stabilities of their complexes.The HLA-E molecule is a ligand for CD94/NKG2 receptors on NK cells and TCR receptors on NK-CTL (NK-cytotoxic T lymphocyte cells, so it plays a double role in both innate and adaptive immunity. This paper reviews the knowledge on the role of the HLA-E molecule in the immunological response. Aspects related to polymorphism of the HLA-E gene and the course of several diseases including type I diabetes, ankylosing spondylitis, HCV and HIV infections, nasopharyngeal cancer and recurrent spontaneous abortions, as well as the outcome of hematopoietic stem cell transplantation, are presented and discussed in more detail.

  18. HLA Association with Drug-Induced Adverse Reactions

    Directory of Open Access Journals (Sweden)

    Wen-Lang Fan

    2017-01-01

    Full Text Available Adverse drug reactions (ADRs remain a common and major problem in healthcare. Severe cutaneous adverse drug reactions (SCARs, such as Stevens–Johnson syndrome (SJS/toxic epidermal necrolysis (TEN with mortality rate ranges from 10% to more than 30%, can be life threatening. A number of recent studies demonstrated that ADRs possess strong genetic predisposition. ADRs induced by several drugs have been shown to have significant associations with specific alleles of human leukocyte antigen (HLA genes. For example, hypersensitivity to abacavir, a drug used for treating of human immunodeficiency virus (HIV infection, has been proposed to be associated with allele 57:01 of HLA-B gene (terms HLA-B∗57:01. The incidences of abacavir hypersensitivity are much higher in Caucasians compared to other populations due to various allele frequencies in different ethnic populations. The antithyroid drug- (ATDs- induced agranulocytosis are strongly associated with two alleles: HLA-B∗38:02 and HLA-DRB1∗08:03. In addition, HLA-B∗15:02 allele was reported to be related to carbamazepine-induced SJS/TEN, and HLA-B∗57:01 in abacavir hypersensitivity and flucloxacillin induced drug-induced liver injury (DILI. In this review, we summarized the alleles of HLA genes which have been proposed to have association with ADRs caused by different drugs.

  19. HLA-DP antigens in patients with alopecia areata

    DEFF Research Database (Denmark)

    Ødum, Niels; Morling, N; Georgsen, J

    1990-01-01

    The distribution of HLA-DP antigens were studied in 41 patients with alopecia areata (AA) and 188 ethnically matched controls. An increase of DR4 and possibly DR5 in 24 of these patients has previously been reported. HLA-DP typing for DPw1 through w6 and the local specificity, CDP HEI, was perfor...

  20. Association of differentiated thyroid carcinoma with HLA-DR7

    International Nuclear Information System (INIS)

    Sridama, V.; Hara, Y.; Fauchet, R.; DeGroot, L.J.

    1985-01-01

    Seventy-four American white thyroid cancer patients were typed for HLA-A, B, and DR antigens. A significant increase in HLA-DR7 was found in the nonradiation-associated thyroid cancer patients (42.5%, 20/47 cases), compared to 22.8% of 979 normal controls. The association is stronger in the follicular and mixed papillary-follicular subgroup (52.0%, 13/25 cases, P corrected less than 0.01). The occurrence of various malignancies in family members was found in 57.9% of HLA-DR7 positive patients, versus 20% of HLA-DR7 negative patients, in a retrospective record review. Although the frequency of HLA-DR7 was not increased in the radiation-associated thyroid cancer patients (22.2%, 6/27 cases), the interval from the irradiation date to the onset date of thyroid cancer was shorter in HLA-DR7 positive cases (17.3 +/- 6.2 years) than in HLA-DR7 negative patients (29.4 +/- 11.5 years). This data suggest that HLA-DR7 is associated with and may influence development of thyroid cancer

  1. Ultraspecific probes for high throughput HLA typing

    Directory of Open Access Journals (Sweden)

    Eggers Rick

    2009-02-01

    Full Text Available Abstract Background The variations within an individual's HLA (Human Leukocyte Antigen genes have been linked to many immunological events, e.g. susceptibility to disease, response to vaccines, and the success of blood, tissue, and organ transplants. Although the microarray format has the potential to achieve high-resolution typing, this has yet to be attained due to inefficiencies of current probe design strategies. Results We present a novel three-step approach for the design of high-throughput microarray assays for HLA typing. This approach first selects sequences containing the SNPs present in all alleles of the locus of interest and next calculates the number of base changes necessary to convert a candidate probe sequences to the closest subsequence within the set of sequences that are likely to be present in the sample including the remainder of the human genome in order to identify those candidate probes which are "ultraspecific" for the allele of interest. Due to the high specificity of these sequences, it is possible that preliminary steps such as PCR amplification are no longer necessary. Lastly, the minimum number of these ultraspecific probes is selected such that the highest resolution typing can be achieved for the minimal cost of production. As an example, an array was designed and in silico results were obtained for typing of the HLA-B locus. Conclusion The assay presented here provides a higher resolution than has previously been developed and includes more alleles than previously considered. Based upon the in silico and preliminary experimental results, we believe that the proposed approach can be readily applied to any highly polymorphic gene system.

  2. Expression of the Classical and Nonclassical HLA Molecules in Breast Cancer

    Directory of Open Access Journals (Sweden)

    Gisela Bevilacqua Rolfsen Ferreira da Silva

    2013-01-01

    Full Text Available Considering that downregulation of HLA expression could represent a potential mechanism for breast carcinogenesis and metastasis, the aim of the present study was to use immunohistochemical methods to analyze the expression of HLA-Ia, HLA-DR, HLA-DQ, HLA-E, and HLA-G in invasive ductal carcinoma (IDC of the breast and to relate this HLA profile to anatomopathological parameters. Fifty-two IDC from breast biopsies were stratified according to histological differentiation (well, moderately, and poorly differentiated and to the presence of metastases in axillary lymph nodes. The expression of HLA molecules was assessed by immunohistochemistry, using a computer-assisted system. Overall, 31 (59.6% out of the 52 IDC breast biopsies exhibited high expression of HLA-G, but only 14 (26.9% showed high expression of HLA-E. A large number (41, 78.8% of the biopsies showed low expression of HLA-Ia, while 45 (86.5% showed high expression of HLA-DQ and 36 (69.2% underexpressed HLA-DR. Moreover, 24 (41.2% of 52 biopsies had both low HLA-Ia expression and high HLA-G expression, while 11 (21.2% had low HLA-Ia expression and high HLA-E expression. These results suggest that, by different mechanisms, the downregulation of HLA-Ia, HLA-E, and HLA-DR and the upregulation of HLA-G and HLA-DQ are associated with immune response evasion and breast cancer aggressiveness.

  3. Role of HLA in Hematopoietic Stem Cell Transplantation

    Directory of Open Access Journals (Sweden)

    Meerim Park

    2012-01-01

    Full Text Available The selection of hematopoietic stem cell transplantation (HSCT donors includes a rigorous assessment of the availability and human leukocyte antigen (HLA match status of donors. HLA plays a critical role in HSCT, but its involvement in HSCT is constantly in flux because of changing technologies and variations in clinical transplantation results. The increased availability of HSCT through the use of HLA-mismatched related and unrelated donors is feasible with a more complete understanding of permissible HLA mismatches and the role of killer-cell immunoglobulin-like receptor (KIR genes in HSCT. The influence of nongenetic factors on the tolerability of HLA mismatching has recently become evident, demonstrating a need for the integration of both genetic and nongenetic variables in donor selection.

  4. Influence of HLA on human partnership and sexual satisfaction.

    Science.gov (United States)

    Kromer, J; Hummel, T; Pietrowski, D; Giani, A S; Sauter, J; Ehninger, G; Schmidt, A H; Croy, I

    2016-08-31

    The major histocompatibility complex (MHC, called HLA in humans) is an important genetic component of the immune system. Fish, birds and mammals prefer mates with different genetic MHC code compared to their own, which they determine using olfactory cues. This preference increases the chances of high MHC variety in the offspring, leading to enhanced resilience against a variety of pathogens. Humans are also able to discriminate HLA related olfactory stimuli, however, it is debated whether this mechanism is of behavioural relevance. We show on a large sample (N = 508), with high-resolution typing of HLA class I/II, that HLA dissimilarity correlates with partnership, sexuality and enhances the desire to procreate. We conclude that HLA mediates mate behaviour in humans.

  5. Parental Differential Treatment of Siblings in Childhood

    Directory of Open Access Journals (Sweden)

    Tina Kavčič

    2007-03-01

    Full Text Available Parental differential treatment is an important feature of non-shared family environment which contributes to the development of behavioural differences between siblings growing up in the same family. To investigate the frequency, direction, and patterns of parental differential treatment of siblings in Slovene families, mothers and fathers of 93 sibling-pairs in early/middle childhood provided self-reports in a two-wave longitudinal study. Most of the parents reported on low levels of differential treatment, predominantly expressing somewhat more affection and control towards the older than towards the younger sibling. Over a one-year time period, the average frequency of parental differential treatment did not change significantly, whereas the stability was estimated as moderate for maternal and low for paternal assessments. Maternal and paternal self-ratings were moderately correlated. However, the mothers reported on somewhat higher levels of differential control and (only in wave 1 affection than the fathers. Nearly half of the families were characterized by a congruent pattern of parental differential treatment indicating that both parents showed more affection and control towards the older of the two siblings. A complementary family pattern reflecting an opposite direction of maternal and paternal differential treatment emerged in approximately a quarter of the participating families.

  6. Using Twins to Better Understand Sibling Relationships.

    Science.gov (United States)

    Mark, Katharine M; Pike, Alison; Latham, Rachel M; Oliver, Bonamy R

    2017-03-01

    We compared the nature of the sibling relationship in dyads of varying genetic relatedness, employing a behavioural genetic design to estimate the contribution that genes and the environment have on this familial bond. Two samples were used-the Sisters and Brothers Study consisted of 173 families with two target non-twin children (mean ages = 7.42 and 5.22 years respectively); and the Twins, Family and Behaviour study included 234 families with two target twin children (mean age = 4.70 years). Mothers and fathers reported on their children's relationship with each other, via a postal questionnaire (the Sisters and Brothers Study) or a telephone interview (the Twins, Family and Behaviour study). Contrary to expectations, no mean level differences emerged when monozygotic twin pairs, dizygotic twin pairs, and non-twin pairs were compared on their sibling relationship quality. Behavioural genetic analyses also revealed that the sibling bond was modestly to moderately influenced by the genetic propensities of the children within the dyad, and moderately to substantially influenced by the shared environment common to both siblings. In addition, for sibling negativity, we found evidence of twin-specific environmental influence-dizygotic twins showed more reciprocity than did non-twins. Our findings have repercussions for the broader application of results from future twin-based investigations.

  7. A genomic study on distribution of human leukocyte antigen (HLA-A and HLA-B alleles in Lak population of Iran

    Directory of Open Access Journals (Sweden)

    Farhad Shahsavar

    2017-03-01

    Full Text Available Anthropological studies based on the highly polymorphic gene, human leukocyte antigen (HLA, provide useful information for bone marrow donor registry, forensic medicine, disease association studies, as well as infertility treatment, designing peptide vaccines against tumors, and infectious or autoimmune diseases. The aim of this study was to determine HLA-A and HLA-B allele frequencies in 100 unrelated Lak/lᴂk/individuals from Lorestan province of Iran. Finally, we compared the results with that previously described in Iranian population. Commercial HLA-Type kits from BAG (Lich, Germany company were used for determination of the HLA-A and HLA-B allele frequencies in genomic DNA, based on polymerase chain reaction with sequence specific primer (PCR-SSP assay. The differences between the populations in distribution of HLA-A and HLA-B alleles were estimated by chi-squared test with Yate's correction. The most frequent HLA-A alleles were *24 (20%, *02 (18%, *03 (12% and *11 (10%, and the most frequent HLA-B alleles were *35 (24%, *51 (16%, *18 (6% and *38 (6% in Lak population. HLA-A*66 (1%, *74(1% and HLA-B*48 (1%, *55(1% were the least observed frequencies in Lak population. Our results based on HLA-A and HLA-B allele frequencies showed that Lak population possesses the previously reported general features of Iranians but still with unique.

  8. Psychological Adjustment of Siblings of Children Who Are Deaf or Hard of Hearing

    Science.gov (United States)

    Verte, Sylvie; Hebbrecht, Lies; Roeyers, Herbert

    2006-01-01

    This study investigated both the quality of sibling relationships and the psychological adjustment siblings experienced across two groups: siblings of children who are deaf or hard of hearing compared to siblings of children with no disability. Twenty-four siblings of children with hearing loss and 24 siblings of children without a disability…

  9. The Nature and Correlates of Sibling Influence in Two-Parent African American Families

    Science.gov (United States)

    Whiteman, Shawn D.; Becerra Bernard, Julia M.; McHale, Susan M.

    2010-01-01

    Guided by research and theory on sibling similarities and differences, this study explored the nature and correlates of 2 processes of sibling influence--social learning and sibling differentiation--during adolescence. Participants included 2 adolescent-age siblings (M = 16.29 years for older siblings and M = 12.59 years for younger siblings,…

  10. The experiences of Latino siblings of children with developmental disabilities.

    Science.gov (United States)

    Kao, B; Romero-Bosch, L; Plante, W; Lobato, D

    2012-07-01

    This qualitative study explored the experiences of Latino siblings of children with developmental disabilities. Parents and typically developing siblings from 15 Latino families with a child with a developmental disability participated in separate interviews. Using consensual qualitative research methodology, domains reflecting siblings' relationships, emotional experiences and communication about the disability were identified. The child's need for caregiving was a prominent topic in the sibling and parent narratives. Parents reported concerns about siblings' experience of differential treatment, whereas siblings reported concerns about restricted social activities because of their brother/sister. Including multiple informants revealed commonalities and differences in parents' and siblings' perspectives on the impact of a child's disability. The importance of considering sibling adaptation in sociocultural context is discussed. © 2011 Blackwell Publishing Ltd.

  11. Caring for Siblings of Kids With Special Needs

    Science.gov (United States)

    ... problem. If this happens, seek help from a mental health professional for your child. Reviewed by: Larissa Hirsch, MD Date reviewed: August 2015 More on this topic for: Parents Kids Teens Sibling Rivalry Caring for Siblings of Seriously Ill Children ...

  12. Sibling relationships of anxiety disordered children--a research note

    NARCIS (Netherlands)

    Lindhout, Ingeborg E.; Boer, Frits; Markus, Monica T.; Hoogendijk, Thea H. G.; Maingay, Ragna; Borst, Sophie R.

    2003-01-01

    There is a paucity of knowledge on the role of sibling relationships in internalizing disorders. Research in nonclinical populations suggests an association between internalizing problems in children and negative sibling interactions. Further, an association is reported between internalizing

  13. Sibling Gender Composition and Preferences for STEM Education

    DEFF Research Database (Denmark)

    Brenøe, Anne Ardila

    2017-01-01

    of the younger siblings' gender allows me to estimate the causal effect of having an opposite compared to same sex sibling. Overall, having an opposite sex sibling makes educational choices more gender-stereotypical for both genders. Having an opposite sex sibling reduces women's probability to enroll in any......-parent interactions. Parents with mixed sex children gender-specialize their parenting more and spend more quality time with their same sex child than parents with same sex children. Moreover, I show that young boys with an opposite sex sibling are exposed to more gender-stereotypical behavior within the family than......This paper studies how sibling gender composition affects preferences for education within Science, Technology, Engineering, and Mathematics (STEM). To identify the causal effect of sibling gender, I focus on a sample of firstborn children who all have a younger biological sibling. The randomness...

  14. The early development of infant siblings of children with autism spectrum disorder: Characteristics of sibling interactions

    Science.gov (United States)

    Warreyn, Petra; Van der Paelt, Sara; Demurie, Ellen; Roeyers, Herbert

    2018-01-01

    Although sibling interactions play an important role in children’s early development, they are rarely studied in very young children with an older brother or sister with autism spectrum disorder (ASD). This study used a naturalistic, observational method to compare interactions between 18-month-old infants and their older sibling with ASD (n = 22) with a control group of 18-month-old infants and their typically developing (TD) older sibling (n = 29). In addition, role (a)symmetry and the influence of gender were evaluated. Sibling interactions in ASD-dyads were characterized by higher levels of negativity. Although somewhat less pronounced in ASD-dyads, role asymmetry was present in both groups, with the older child taking the dominant position. Finally, siblings pairs with an older sister were characterized by more positive behaviours. Since differences in sibling interactions may alter the developmental trajectories of both siblings, these early relationships should be taken into account in future ASD research and interventions. PMID:29543814

  15. HLA-DRB and HLA-DQ genetic variability in patients with aspirin-exacerbated respiratory disease.

    Science.gov (United States)

    Esmaeilzadeh, Hossein; Nabavi, Mohammad; Amirzargar, Ali Akbar; Aryan, Zahra; Arshi, Saba; Bemanian, Mohammad Hassan; Fallahpour, Morteza; Mortazavi, Negar; Rezaei, Nima

    2015-01-01

    Major histocompatibility complex (MHC) class II is involved in T-cell activation, cytokine secretion, and induction of immune responses. Cytokines, staphylococcus super antigens, and eosinophil activation are proposed to play important roles in aspirin-exacerbated respiratory disease (AERD). This study is aimed at investigating the association of HLA-DRB and DQ genetic variabilities in patients with AERD. A genetic association analysis in three different groups, including 33 patients with AERD, 17 patients with aspirin-tolerant asthma (ATA), and 100 healthy controls was performed. Oral aspirin challenge (OAC) test was performed to identify aspirin hypersensitivity. Pulmonary function test (PFT) was performed for all patients. Eosinophil percentage in nasal smear and peripheral blood and serum immunoglobin (Ig)E were investigated. HLA-DRB, HLA-DQA1, and HLA-DQB1 were genotyped using polymerase chain reaction. HLA-DQB1*0302 (OR, 5.49, 95% confidence interval [CI],(2.40-12.59)), HLA-DQA1*0301 (OR, 2.90, 95% CI, (1.49-5.67)), HLA-DRB4 (OR, 2.94, 95% CI, (1.61-5.36)), and HLA-DRB1*04 (OR, 3.19, 95% CI, (1.57-6.47)) were higher in patients with AERD compared with controls. In patients with AERD, HLA-DQB1*0301 (OR,0.22, 95% CI, (0.09-0.54)), HLA-DQA1*0501 (OR, 0.42, 95% CI, (0.21-0.81)), HLA-DRB1*11 (OR, 0.30, 95% CI, (0.12-0.73)), and HLA-DRB3 (OR, 0.38, 95% CI, (0.21-0.70)) were significantly lower compared with healthy controls. Patients with AERD had lower frequencies of HLA-DQB1*0301 (OR, 0.27, 95% CI, (0.08-0.86)), and HLA-DRB1*011 (OR, 0.27, 95% CI, (0.08-0.86)) compared with ATA. Haplotypes of HLA-DRB1*04/ DQA1*0301/ DQB1*0302 (OR, 4.25, 95% CI, (1.94-9.29)) and HLA-DRB1*07 /DQA1*0201/ DQB1*0201 (OR, 3.52, 95% CI, (1.54-8.06)) were higher in patients with AERD compared with controls (all p < 0.05). Results of this study suggest that HLA-DQB1*0302 and HLA-DRB1*04 and their related haplotypes are genes involved in predisposing patients to AERD, whereas HLA-DQB1

  16. HLA-DRB1*03:01 and HLA-DRB1*04:01 modify the presentation and outcome in autoimmune hepatitis type-1.

    Science.gov (United States)

    van Gerven, N M F; de Boer, Y S; Zwiers, A; Verwer, B J; Drenth, J P H; van Hoek, B; van Erpecum, K J; Beuers, U; van Buuren, H R; den Ouden, J W; Verdonk, R C; Koek, G H; Brouwer, J T; Guichelaar, M M J; Vrolijk, J M; Coenraad, M J; Kraal, G; Mulder, C J J; van Nieuwkerk, C M J; Bloemena, E; Verspaget, H W; Kumar, V; Zhernakova, A; Wijmenga, C; Franke, L; Bouma, G

    2015-06-01

    The classical human leukocyte antigen (HLA)-DRB1*03:01 and HLA-DRB1*04:01 alleles are established autoimmune hepatitis (AIH) risk alleles. To study the immune-modifying effect of these alleles, we imputed the genotypes from genome-wide association data in 649 Dutch AIH type-1 patients. We therefore compared the international AIH group (IAIHG) diagnostic scores as well as the underlying clinical characteristics between patients positive and negative for these HLA alleles. Seventy-five percent of the AIH patients were HLA-DRB1*03:01/HLA-DRB1*04:01 positive. HLA-DRB1*03:01/HLA-DRB1*04:01-positive patients had a higher median IAIHG score than HLA-DRB1*03:01/HLA-DRB1*04:01-negative patients (P<0.001). We did not observe associations between HLA alleles and alanine transaminase levels (HLA-DRB1*03:01: P=0.2; HLA-DRB1*04:01; P=0.5); however, HLA-DRB1*03:01 was independently associated with higher immunoglobulin G levels (P=0.04). The HLA-DRB1*04:01 allele was independently associated with presentation at older age (P=0.03) and a female predominance (P=0.04). HLA-DRB1*03:01-positive patients received immunosuppressive medication and liver transplantation. In conclusion, the HLA-DRB1*03:01 and HLA-DRB1*04:01 alleles are both independently associated with the aggregate diagnostic IAIHG score in type-1 AIH patients, but are not essential for AIH development. HLA-DRB1*03:01 is the strongest genetic modifier of disease severity in AIH.

  17. Living with disability. Taking care of siblings

    Directory of Open Access Journals (Sweden)

    Roberta Caldin

    2016-11-01

    Full Text Available The birth of a disabled child is a critical event that places all the members of the family in a condition of great vulnerability. When talking about families with a disabled child, attention is usually focused on the parents. Siblings tend to play a marginal role, as shown in the referred literature, in this specific field of investigation. Communicating diagnosis to siblings means involving them in the process of family change, making them active players rather than “spectators” in their own “existential niche”. Communication of diagnosis is a delicate, continuous process that has to be tackled appropriately, using targeted words and educational actions. Children need help in accepting and welcoming their disabled sibling, with all his/her characteristics (and deficits, through a balanced, pondered approach that includes both the dimension of co-development and the acknowledgement of problematic situations.

  18. Should selecting saviour siblings be banned?

    Science.gov (United States)

    Sheldon, S; Wilkinson, S

    2004-12-01

    By using tissue typing in conjunction with preimplantation genetic diagnosis doctors are able to pick a human embryo for implantation which, if all goes well, will become a "saviour sibling", a brother or sister capable of donating life-saving tissue to an existing child. This paper addresses the question of whether this form of selection should be banned and concludes that it should not. Three main prohibitionist arguments are considered and found wanting: (a) the claim that saviour siblings would be treated as commodities; (b) a slippery slope argument, which suggests that this practice will lead to the creation of so-called "designer babies"; and (c) a child welfare argument, according to which saviour siblings will be physically and/or psychologically harmed.

  19. Life history consequences of mammal sibling rivalry.

    Science.gov (United States)

    Stockley, P; Parker, G A

    2002-10-01

    Mammal life history traits relating to growth and reproduction are extremely diverse. Sibling rivalry may contribute to selection pressures influencing this diversity, because individuals that are relatively large at birth typically have an advantage in competition for milk. However, selection for increased growth rate is likely to be constrained by kin selection and physiological costs. Here, we present and test a model examining the ESS (evolutionarily stable strategy) balance between these constraints and advantages associated with increased prenatal growth in mammal sibling rivalry. Predictions of the model are supported by results of comparative analyses for the Carnivora and Insectivora, which demonstrate an increase in prenatal growth rate with increasing intensity of postnatal scramble competition, and a decrease in postnatal growth rate relative to size at birth. Because increased prenatal growth rates are predicted to select for reduced gestation length under certain conditions, our study also indicates that sibling rivalry may contribute to selection pressures influencing variation in altriciality and precociality among mammals.

  20. Sibling constellation effects on learning and career aspirations of pupils.

    OpenAIRE

    KOROTVIČKOVÁ, Blanka

    2012-01-01

    The thesis "Sibling Constellation Effects on Learning and Career Aspirations of Pupils" is aimed at the description of a relationship between birth order and personality development. It also deals with the general characteristics of sibling constellation and its historical development. It points out the importance of sibling constellation in human life and presents the personality description with regard to birth order in relation to parents, siblings, peers, education and occupation. The the...

  1. Childhood Experiences of Sibling Abuse: An investigation into learned helplessness

    OpenAIRE

    McLaurin, Shamla L.

    2005-01-01

    As various forms of interpersonal family violence receive more attention in the literature, sibling abuse is still in the background. Despite the increasing knowledge about the prevalence, causes, and effects of sibling abuse, many of us continue to relegate it to a childhood occurrence. Sibling abuse symptoms continue to go unrecognized and its demoralizing effects continue to be ignored (Wiehe, 1990). Minimization and denial of sibling abuse have also contributed to constraining the extent ...

  2. Strain-based HLA association analysis identified HLA-DRB1*09:01 associated with modern strain tuberculosis.

    Science.gov (United States)

    Toyo-Oka, L; Mahasirimongkol, S; Yanai, H; Mushiroda, T; Wattanapokayakit, S; Wichukchinda, N; Yamada, N; Smittipat, N; Juthayothin, T; Palittapongarnpim, P; Nedsuwan, S; Kantipong, P; Takahashi, A; Kubo, M; Sawanpanyalert, P; Tokunaga, K

    2017-09-01

    Tuberculosis (TB) occurs as a result of complex interactions between the host immune system and pathogen virulence factors. Human leukocyte antigen (HLA) class II molecules play an important role in the host immune system. However, no study has assessed the association between HLA class II genes and susceptibility to TB caused by specific strains. This study investigated the possible association of HLA class II genes with TB caused by modern and ancient Mycobacterium tuberculosis (MTB). The study included 682 patients with TB and 836 control subjects who were typed for HLA-DRB1 and HLA-DQB1 alleles. MTB strains were classified using a large sequence polymorphism typing method. Association analysis was performed using common HLA alleles and haplotypes in different MTB strains. HLA association analysis of patients infected with modern MTB strains showed significant association for HLA-DRB1*09:01 (odds ratio [OR] = 1.82; P-value = 9.88 × 10 -4 ) and HLA-DQB1*03:03 alleles (OR = 1.76; P-value = 1.31 × 10 -3 ) with susceptibility to TB. Haplotype analysis confirmed that these alleles were in strong linkage disequilibrium and did not exert an interactive effect. Thus, the results of this study showed an association between HLA class II genes and susceptibility to TB caused by modern MTB strains, suggesting the importance of strain-specific analysis to determine susceptibility genes associated with TB. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. HLA-DP related suppression of mixed lymphocyte reaction with alloactivated lymphocytes

    DEFF Research Database (Denmark)

    Ødum, Niels; Hofmann, B; Jakobsen, B K

    1986-01-01

    We studied the influence of HLA class I and class II antigens on the suppression of the MLR induced by primed lymphocytes (PLs) alloactivated in vitro. The suppression of 14 different PLs of 83 MLRs was analyzed. The PLs were primed against (i) HLA-DP (SB) (ii) HLA-DR/DQ or (iii) both HLA-DP and ...

  4. HLA-DP related suppression of mixed lymphocyte reaction with alloactivated lymphocytes

    DEFF Research Database (Denmark)

    Ødum, Niels; Hofmann, B; Jakobsen, B K

    1986-01-01

    We studied the influence of HLA class I and class II antigens on the suppression of the MLR induced by primed lymphocytes (PLs) alloactivated in vitro. The suppression of 14 different PLs of 83 MLRs was analyzed. The PLs were primed against (i) HLA-DP (SB) (ii) HLA-DR/DQ or (iii) both HLA-DP and DR...

  5. HLA-A2 reactive antibodies in a patient who types as HLA-A2: The importance of high resolution typing and epitope-based antibody analysis.

    Science.gov (United States)

    Hahn, A B; Bravo-Egana, V; Jackstadt, J L; Conti, D J; Duquesnoy, R J

    2015-06-01

    This report describes a case of a highly sensitized patient who had serum antibodies reacting with HLA-A2 but whose phenotype included HLA-A2. The determination of HLA mismatch acceptability at the antigen level was problematic, but high-resolution HLA typing information and epitope-based antibody specificity analysis based on the nonself-self paradigm of HLA epitope immunogenicity have provided a solution. This case supports the concept that HLA typing at the allele level offers a better approach to identifying suitable donors for sensitized patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Progeria in siblings: A rare case report

    Directory of Open Access Journals (Sweden)

    R Sowmiya

    2011-01-01

    Full Text Available Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance.

  7. My older sibling was drunk - younger siblings' drunkenness in relation to parental monitoring and the parent-adolescent relationship.

    Science.gov (United States)

    Gossrau-Breen, Diana; Kuntsche, Emmanuel; Gmel, Gerhard

    2010-10-01

    This study explored the links between having older siblings who get drunk, satisfaction with the parent-adolescent relationship, parental monitoring, and adolescents' risky drinking. Regression models were conducted based on a national representative sample of 3725 8th to 10th graders in Switzerland (mean age 15.0, SD = .93) who indicated having older siblings. Results showed that both parental factors and older siblings' drinking behaviour shape younger siblings' frequency of risky drinking. Parental monitoring showed a linear dose-response relationship, and siblings' influence had an additive effect. There was a non-linear interaction effect between parent-adolescent relationship and older sibling's drunkenness. The findings suggest that, apart from avoiding an increasingly unsatisfactory relationship with their children, parental monitoring appears to be important in preventing risky drinking by their younger children, even if the older sibling drinks in such a way. However, a satisfying relationship with parents does not seem to be sufficient to counterbalance older siblings' influence.

  8. Examining the role of communication on sibling relationship quality and interaction for sibling pairs with and without a developmental disability.

    Science.gov (United States)

    Smith, Ashlyn L; Romski, Maryann; Sevcik, Rose A

    2013-09-01

    This study examined communication interaction patterns when one sibling had a developmental disability as well as the role of communication skills in sibling relationship quality. Thirty sibling dyads were categorized into one of three communication status groups: emerging, context-dependent, and independent communicators. Independent communicators and their siblings did not differ in terms of syntactic complexity but typically developing siblings dominated the interaction and exhibited greater lexical diversity regardless of communication status. Communication status did not impact the warmth/closeness, rivalry, or conflict in the sibling relationship, but siblings of independent communicators engaged in the greatest amount of helping and managing behaviors. These results represent a first step in understanding the role of communication skills in the sibling relationship for families of children with disabilities.

  9. Siblings, Language, and False Belief in Low-Income Children

    Science.gov (United States)

    Tompkins, Virginia; Farrar, M. Jeffrey; Guo, Ying

    2013-01-01

    The authors examined the relationship between number of siblings and false belief understanding (FBU) in 94 low-income 4-5-year-olds. Previous research with middle-income children has shown a positive association between number of siblings and FBU. However, it is unclear whether having multiple siblings in low-income families is related to better…

  10. Social and Emotional Adjustment of Siblings of Children with Autism

    Science.gov (United States)

    Pilowsky, Tammy; Yirmiya, Nurit; Doppelt, Osnat; Gross-Tsur, Varda; Shalev, Ruth S.

    2004-01-01

    Background: Social and emotional adjustment of siblings of children with autism was examined, to explore their risk or resilience to effects of genetic liability and environmental factors involved in having a sibling with autism. Method: Social-emotional adjustment, behavior problems, socialization skills, and siblings' relationships were compared…

  11. Young Children's Personal Accounts of Their Sibling Disputes

    Science.gov (United States)

    Wilson, Anne E.; Smith, Melissa D.; Ross, Hildy S.; Ross, Michael

    2004-01-01

    We investigated children's personal representations of significant sibling conflicts. Forty pairs of siblings were interviewed separately about the same disputes. Although they described the same episodes, both older (M age = 7.0) and younger (M age = 4.4) siblings ascribed more serious transgressions to their opponents than to themselves. They…

  12. Siblings within Families: Levels of Analysis and Patterns of Influence

    Science.gov (United States)

    Jenkins, Jennifer; Dunn, Judy

    2009-01-01

    The study of siblings has become increasingly central to developmental science. Sibling relationships have unique effects on development, and sibling designs allow researchers to isolate causal mechanisms in development. This volume emphasizes causal mechanisms in the social domain. We review the preceding chapters in relation to six topics: a…

  13. Perceived Support in Sibling Relationships and Adolescent Adjustment

    Science.gov (United States)

    Branje, Susan J. T.; Van Lieshout, Cornelis F. M.; Van Aken, Marcel A. G.; Haselager, Gerbert J. T.

    2004-01-01

    Background: Siblings may support each other, but also reveal fierce rivalry and mutual aggression. Supportive sibling relationships have been linked to the development of psychosocial competence of children. In the present longitudinal study, we will focus on the development of perceived support in sibling dyads and on the influence of sibling…

  14. Psychological Adjustment of Siblings to a Child with Diabetes.

    Science.gov (United States)

    Hollidge, Colin

    2001-01-01

    Examines the psychological adjustment of well child siblings living with siblings with diabetes. Psychological adjustment was assessed by measuring self-concept; behavioral difficulties; competence; anxiety; and depression on standardized tests. The well siblings demonstrated significant internal psychological stressors and maintained high levels…

  15. Review of Sibling Interventions with Children with Autism

    Science.gov (United States)

    Banda, Devender R.

    2015-01-01

    Fifteen intervention studies were reviewed that included children with autism and their typical siblings. Overall, results across several studies reveal that siblings can have positive impacts on social and communication skills in children with autism. However, methodological variations and mixed results in studies that included siblings as…

  16. Forgotten family members: the importance of siblings in early psychosis.

    Science.gov (United States)

    Bowman, Siann; Alvarez-Jimenez, Mario; Wade, Darryl; McGorry, Patrick; Howie, Linsey

    2014-08-01

    This paper reviews the evidence on the significance of sibling inclusion in family interventions and support during early psychosis. This narrative review presents the current research related to the importance of family work during early psychosis, the needs and developmental significance of siblings during adolescence and early adulthood, the protective effects of sibling relationships, and the characteristics of early psychosis relevant to the sibling experience. It will also review the evidence of the sibling experience in chronic physical illness and disability, as well as long-term psychotic illness. Despite the evidence that working with families is important during early psychosis, siblings have been largely ignored. Siblings are an important reciprocal relationship of long duration. They play an important role in development during adolescence and early adulthood. These relationships may be an underutilized protective factor due to their inherent benefits and social support. Developmental theories imply that early psychosis could negatively impact the sibling relationship and their quality of life, effecting personality development and health outcomes. The evidence shows that adolescent physical illness or disability has a significantly negative impact on the sibling's quality of life and increases the risk for the onset of mental health issues. Long-term psychotic illness also results in negative experiences for siblings. Current evidence shows that siblings in early psychosis experience psychological distress and changes in functional performance. Further research using standard measures is required to understand the impact early psychosis has on the sibling relationship and their quality of life. © 2013 Wiley Publishing Asia Pty Ltd.

  17. Reframing Paul's sibling language in light of Jewish epistolary forms ...

    African Journals Online (AJOL)

    However, Jewish dimensions (particularly ethnic dimensions) of Paul's sibling language still remain unexplored in current scholarship. Furthermore, scholars have not drawn much attention to how Jewish letter writers use sibling terms in their letters. This article offers a new interpretation on Paul's sibling language in light of ...

  18. Parental divorce and sibling relationships : a research note

    NARCIS (Netherlands)

    Poortman, A.R.; Voorpostel, M.B.J.

    2009-01-01

    This study examines long-term effects of parental divorce on sibling relationships in adulthood and the role of predivorce parental conflict. It used large-scale retrospective data from the Netherlands that contain reports from both siblings of the sibling dyad. Results show limited effects of

  19. Sibship size, sibling cognitive sensitivity, and children's receptive vocabulary.

    Science.gov (United States)

    Prime, Heather; Pauker, Sharon; Plamondon, André; Perlman, Michal; Jenkins, Jennifer

    2014-02-01

    The aim of the current study was to examine the relationship between sibship size and children's vocabulary as a function of quality of sibling interactions. It was hypothesized that coming from a larger sibship (ie, 3+ children) would be related to lower receptive vocabulary in children. However, we expected this association to be moderated by the level of cognitive sensitivity shown by children's next-in-age older siblings. Data on 385 children (mean age = 3.15 years) and their next-in-age older siblings (mean age = 5.57 years) were collected and included demographic questionnaires, direct testing of children's receptive vocabulary, and videos of mother-child and sibling interactions. Sibling dyads were taped engaging in a cooperative building task and tapes were coded for the amount of cognitive sensitivity the older sibling exhibited toward the younger sibling. Hierarchical regression analyses were conducted and showed an interaction between sibship size and sibling cognitive sensitivity in the prediction of children's receptive vocabulary; children exposed to large sibships whose next-in-age older sibling exhibited higher levels of cognitive sensitivity were less likely to show low vocabulary skills when compared with those children exposed to large sibships whose siblings showed lower levels of cognitive sensitivity. Children who show sensitivity to the cognitive needs of their younger siblings provide a rich environment for language development. The negative impact of large sibships on language development is moderated by the presence of an older sibling who shows high cognitive sensitivity.

  20. Effects of Sibling Structure and Interaction on Children's Categorization Style

    Science.gov (United States)

    Cicirelli, Victor G.

    1973-01-01

    One hundred sixty sibling pairs from two child families were sampled for sibling interaction behaviors as they relate to measures of categorization style. The study provides additional evidence of the importance of a child's siblings to his cognitive development. (Editor/RK)

  1. Siblings of the Hearing Impaired: Perspectives for Parents.

    Science.gov (United States)

    Atkins, Dale V.

    1987-01-01

    The author describes the concerns and needs of siblings of hearing-impaired children, offering practical suggestions for parents, educators, and mental health and community service workers. Examples of successful programs for siblings that provide emotional support, training and information about their siblings' disability, and effective…

  2. The Siblings Relationship of Adolescents with and without Intellectual Disabilities

    Science.gov (United States)

    Begum, Gazi; Blacher, Jan

    2011-01-01

    The sibling relationship of adolescents with and without intellectual disabilities was examined. Participants were 70 sibling dyads--each dyad was comprised of one 12-year old adolescent with (N = 23) or without intellectual disabilities (N = 47). Sibling relationships, behavior problems, and social skills were assessed using mother reports.…

  3. Bidirectional Associations between Sibling Relationships and Parental Support during Adolescence

    Science.gov (United States)

    Derkman, Marleen M. S.; Engels, Rutger C. M. E.; Kuntsche, Emmanuel; van der Vorst, Haske; Scholte, Ron H. J.

    2011-01-01

    Sibling relationships and parental support are important for adolescents' development and well-being, yet both are likely to change during adolescence. Since adolescents participate in both the sibling relationship and the parent-child relationship, we can expect sibling relationships and parental support to be associated with each other.…

  4. Bidirectional Associations Between Sibling Relationships and Parental Support During Adolescence

    NARCIS (Netherlands)

    Derkman, M.M.S.; Engels, R.C.M.E.; Kuntsche, E.N.; Vorst, H. van der; Scholte, R.H.J.

    2011-01-01

    Sibling relationships and parental support are important for adolescents' development and well-being, yet both are likely to change during adolescence. Since adolescents participate in both the sibling relationship and the parent-child relationship, we can expect sibling relationships and parental

  5. Bidirectional associations between sibling relationships and parental support during adolescence

    NARCIS (Netherlands)

    Derkman, M.M.S.; Engels, R.C.M.E.; Kuntsche, E.N.; Vorst, H. van der; Scholte, R.H.J.

    2010-01-01

    Sibling relationships and parental support are important for adolescents’ development and well-being, yet both are likely to change during adolescence. Since adolescents participate in both the sibling relationship and the parent–child relationship, we can expect sibling relationships and parental

  6. Sibling Relationships Cognition in Japanese Female University Students

    Science.gov (United States)

    Sawai, Misae; Kato, Daiki

    2017-01-01

    This study examined the factor structure of sibling relationships in Japanese female university students. Two hundred and fifteen Japanese female university students participated in this study. The Adult Sibling Relationship Scale (ASRQ, Stocker et al., 1997) was used to measure sibling relationship cognition. The model was constructed as a result…

  7. Sibling Relationships and Influences in Childhood and Adolescence

    Science.gov (United States)

    McHale, Susan M.; Updegraff, Kimberly A.; Whiteman, Shawn D.

    2012-01-01

    The authors review the literature on sibling relationships in childhood and adolescence, starting by tracing themes from foundational research and theory and then focusing on empirical research during the past 2 decades. This literature documents siblings' centrality in family life, sources of variation in sibling relationship qualities, and the…

  8. Processes of Sibling Influence in Adolescence: Individual and Family Correlates

    Science.gov (United States)

    Whiteman, Shawn D.; Christiansen, Abigail

    2008-01-01

    This study examined the nature and correlates of adolescents' perceptions of sibling influence. Participants included 2 siblings (firstborn age M = 17.34; second-born age M = 14.76 years) from 191 maritally intact families. Adolescents' perceptions of sibling influence were measured via coded responses to open-ended questions about whether their…

  9. Siblings of the Handicapped: A Literature Review for School Psychologists.

    Science.gov (United States)

    Hannah, Mary Elizabeth; Midlarsky, Elizabeth

    1985-01-01

    Siblings of handicapped children may have adjustment problems associated with increased family responsibilities, increased parental expectations, and perceived parental neglect in favor of the disabled sibling. Problems may be related to socioeconomic status; family size; age, sex, and birth order of the sibling; and severity of the handicap. (GDC)

  10. Factors Related to Sibling Removal after a Child Maltreatment Fatality

    Science.gov (United States)

    Damashek, Amy; Bonner, Barbara L.

    2010-01-01

    Objectives: Many children who die from abuse or neglect are survived by siblings. However, little data are available about what happens to these siblings after the victim's death, such as whether they are removed from their home. Even less is known about how decisions are made regarding sibling removal following a child fatality. This study…

  11. De nonklassiske humant leukocyt-antigen (HLA)-vaevstyper--fra implantation til transplantation

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F

    2006-01-01

    ), other functional HLA genes have been detected, the so-called non-classical HLA class Ib genes: HLA-E, -G and -F. They resemble the HLA class Ia antigens in many ways, but several major differences have been described. They are almost monomorphic and generally have a restricted pattern of expression. One...... has a role in implantation. A very strong expression of HLA-G is observed in the invasive trophoblast cells in the placenta. HLA-G may be involved in certain complications of pregnancy and the genetic predisposition to these. Finally, HLA-G expression has been associated with a reduced risk...

  12. Birth of a healthy infant after preimplantation genetic diagnosis by sequential blastomere and trophectoderm biopsy for β-thalassemia and HLA genotyping.

    Science.gov (United States)

    Milachich, Tanya; Timeva, Tanya; Ekmekci, Cumhur; Beyazyurek, Cagri; Tac, Huseyin Avni; Shterev, Atanas; Kahraman, Semra

    2013-07-01

    Preimplantation genetic diagnosis (PGD) is a widely used technique for couples at genetic risk and involves the diagnosis and transfer of unaffected embryos generated through in vitro fertilization (IVF) techniques. For those couples who are at risk of transmitting a genetic disease to their offspring, preimplantation embryos can be selected according to their genetic status as well as human leukocyte antigen (HLA) compatibility with the affected child. Stem cells from the resulting baby's umbilical cord blood can be used for transplantation to the affected sibling without graft rejection. Here we report successful hematopoietic stem cell transplantation (HSCT) after the birth of a healthy infant, who was born after successful PGD testing with both cleavage stage and blastocyst stage biopsy for the purpose of diagnosis of β-thalassemia and HLA compatibility. The specific feature of this work is not only to have the first successful HSCT achieved in Bulgaria after using preimplantation HLA typing technique, it also demonstrates how to accomplish this success via cross-border collaboration of different units, which makes the application of these sophisticated methods possible in hospitals not having the necessary equipments and expertise. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  13. Identity Activities

    Science.gov (United States)

    2016-08-03

    in reaction to their environment. They reflect an individual’s internal or external, conscious or subconscious , overt or covert, voluntary or...identity activities under a range of legal authorities, policy constraints, transnational threats, regional concerns and biases , and most likely...Biography. A baseline and descriptive analytic product that supports the development of the behavioral influences analysis ( BIA ) individual behavioral

  14. [Identity theft

    CERN Multimedia

    Wolinksy, H

    2003-01-01

    "A new survey by the Federal Trade Commission indicates that over the last five years one in four American households has been hit by identity theft, which can result in thieves tapping their victims' credit cards or bank accounts" (1 page).

  15. Designer's Identity

    DEFF Research Database (Denmark)

    Kunrath, Kamila; Cash, Philip; Li-Ying, Jason

    2016-01-01

    A designer’s professional identity (DPI) develops through both education and professional experience, building on core personality traits and innate skills. In this paper a systematic literature review and a secondary narrative review were developed in order to map personal attributes and design...

  16. Challenging Identities

    DEFF Research Database (Denmark)

    depends on the conceptual or ideological constellation in which it takes part. This volume on one hand demonstrates the role of notions of identity in a variety of European contexts, and on the other hand highlights how there may be reasons to challenge the use of the term and corresponding social...

  17. Human leukocyte antigen (HLA)-G during pregnancy part II

    DEFF Research Database (Denmark)

    Dahl, Mette; Klitkou, Louise; Christiansen, Ole B

    2015-01-01

    plasma samples from gestational week 20 and at term, as well as in fetal umbilical cord blood samples. This is the first large study simultaneously performing HLA-G genotyping of mother and offspring and measuring sHLA-G in both maternal and umbilical cord blood. The results showed that increasing...... miscarriage. Levels of soluble HLA-G (sHLA-G) in blood plasma from non-pregnant donors seem to be associated with these polymorphisms. In the current study, we have genotyped 246 mothers and their offspring for HLA-G polymorphisms in the 3'-untranslated region (3'UTR) and measured sHLA-G in maternal blood...... numbers of 14bp ins (rs66554220) alleles in the mother-child genotype combinations were associated with higher maternal sHLA-G levels at term when restricting the analysis to 14bp ins/del heterozygous mothers (p=0.015). Furthermore, increasing numbers of 14InsG haplotypes (14bp ins/del and +3142C/G (rs...

  18. HLA region excluded by linkage analyses of early onset periodontitis

    Energy Technology Data Exchange (ETDEWEB)

    Sun, C.; Wang, S.; Lopez, N.

    1994-09-01

    Previous studies suggested that HLA genes may influence susceptibility to early-onset periodontitis (EOP). Segregation analyses indicate that EOP may be due to a single major gene. We conducted linkage analyses to assess possible HLA effects on EOP. Fifty families with two or more close relatives affected by EOP were ascertained in Virginia and Chile. A microsatellite polymorphism within the HLA region (at the tumor necrosis factor beta locus) was typed using PCR. Linkage analyses used a donimant model most strongly supported by previous studies. Assuming locus homogeneity, our results exclude a susceptibility gene within 10 cM on either side of our marker locus. This encompasses all of the HLA region. Analyses assuming alternative models gave qualitatively similar results. Allowing for locus heterogeneity, our data still provide no support for HLA-region involvement. However, our data do not statistically exclude (LOD <-2.0) hypotheses of disease-locus heterogeneity, including models where up to half of our families could contain an EOP disease gene located in the HLA region. This is due to the limited power of even our relatively large collection of families and the inherent difficulties of mapping genes for disorders that have complex and heterogeneous etiologies. Additional statistical analyses, recruitment of families, and typing of flanking DNA markers are planned to more conclusively address these issues with respect to the HLA region and other candidate locations in the human genome. Additional results for markers covering most of the human genome will also be presented.

  19. Distribution of HLA-A, -B, and -C Alleles and HLA/KIR Combinations in Han Population in China

    Directory of Open Access Journals (Sweden)

    Yunsong Shen

    2014-01-01

    Full Text Available We investigated polymorphisms of the human leukocyte antigen (HLA class I (A, B, and C loci of a Han population (n, 239 from the Yunnan province, Southwest China, using high-resolution polymerase chain reaction-Luminex (PCR-Luminex typing. We combined the HLA data from this study with the KIR genotypes from a previous study of this Han population to analyze the combination of KIR/HLA ligands. A total of 27 HLA-A, 54 HLA-B, and 31 HLA-C alleles were found in this population. The frequencies of A*11:01, A*24:02, B*40:01, B*46:01, C*01:02, C*03:04, and C*07:02 were all > 10%. The following haplotypes were common, with frequencies > 5%: 1 A-B (A*02:07-B*46:01, 2 A-C (A*02:07-C*01:02, and A*11:01-C*07:02, 4 C-B (B*13:01-C*03:04, B*40:01-C*07:02, B*46:01-C*01:02 and B*58:01-C*03:02, and 1 A-C-B (A*02:07-C*01:02-B*46:01. Analysis of KIR3D and their ligands HLA-A3/A11 and HLA-Bw4 showed that the frequencies of 3DL2+-A3/A11+ and 3DL2+-A3/A11− were 0.527 and 0.473, and the frequencies of 3DL1+-Bw4+, 3DL1+-Bw4−, 3DL1−-Bw4+, and 3DL1−-Bw4− were 0.552, 0.397, 0.038, and 0.013, respectively. The results of KIR/HLA-C combination analysis showed that all individuals had at least one inhibitory or activating KIR/HLA-C pair, and one KIR/HLA-C pair was the most frequent (157/239, followed by two pairs (46/239, three pairs (33/239, and no pairs (3/239. Comparison of KIR gene and HLA gene and their pair frequency between Yunnan Han and the isolated Han (FYDH who also lived in Yunnan province showed no significant difference (P>0.05 in KIR frequencies, but significant differences (P0.05 between the two populations for KIR/HLA pairs.

  20. Infection and HLA-G Molecules in Nasal Polyposis

    Directory of Open Access Journals (Sweden)

    Roberta Rizzo

    2014-01-01

    Full Text Available Sinonasal polyposis (SNP is a chronic inflammatory pathology with an unclear aetiopathogenesis. Human papillomavirus (HPV infection is one candidate for the development of SNP for its epithelial cell trophism, hyperproliferative effect, and the induction of immune-modulatory molecules as HLA-G. We enrolled 10 patients with SNP without concomitant allergic diseases (SNP-WoAD, 10 patients with SNP and suffering from allergic diseases (SNP-WAD, and 10 control subjects who underwent rhinoplasty. We analyzed the presence of high- and low-risk HPV DNA and the expression of membrane HLA-G (mHLA-G and IL-10 receptor (IL-10R and of soluble HLA-G (sHLA-G and IL-10 by polyp epithelial cells. The results showed the presence of HPV-11 in 50% of SNP-WoAD patients (OR:5.5, all characterized by a relapsing disease. HPV-11 infection was absent in nonrelapsing SNP-WoAD patients, in SNP-WAD patients and in controls, supporting the hypothesis that HPV-11 increases risk of relapsing disease. HPV-11 positive SNP-WoAD patients presented with mHLA-G and IL-10R on epithelial cells from nasal polyps and showed secretion of sHLA-G and IL-10 in culture supernatants. No HLA-G expression was observed in HPV negative polyps. These data highlight new aspects of polyposis aetiopathogenesis and suggest HPV-11 and HLA-G/IL-10 presence as prognostic markers in the follow-up of SNP-WoAD.

  1. Successful renal transplantation across HLA barrier: Report from India

    Directory of Open Access Journals (Sweden)

    G Aggarwal

    2017-01-01

    Full Text Available Organ donors are sometimes found “unsuitable” due to the presence of donor-specific anti-HLA antibodies in the recipient. In recent years, improved desensitization protocols have successfully helped to overcome HLA incompatibility hurdle. We present three cases where optimum desensitization was achieved in patients with the donor-specific anti-HLA antibody (DSA leading to successful renal transplantation. All patient–donor pair underwent HLA typing, complement dependent cytotoxicity crossmatch (CDC-XM, flow cytometry XM (FC-XM, and panel reactive antibody. If any of the three tests was positive, single antigen bead assay was performed to determine the specificity of the anti-HLA antibody (s. Patients with DSA were offered organ-swap or anti-HLA antibody desensitization followed by transplantation. Desensitization protocol consisted of single dose rituximab and cascade plasmapheresis (CP along with standard triple immunosuppression. The target DSA mean fluorescence index (MFI was <500, along with negative CDC-XM and FC-XM for both T- and B-cells. Three patients with anti-HLA DSA, who did not find a suitable match in organ swap program, consented to anti-HLA antibody desensitization, followed by transplantation. Mean pre-desensitization antibody MFI was 1740 (1422–2280. Mean number of CP required to achieve the target MFI was 2.3 (2–3. All the three patients are on regular follow-up and have normal renal function test at a mean follow-up of 8 months. This report underlines successful application of desensitization protocol leading to successful HLA-antibody incompatible renal transplants and their continued normal renal functions.

  2. Psychological Adjustment and Sibling Relationships in Siblings of Children with Autism Spectrum Disorders: Environmental Stressors and the Broad Autism Phenotype

    Science.gov (United States)

    Petalas, Michael A.; Hastings, Richard P.; Nash, Susie; Hall, Louise M.; Joannidi, Helen; Dowey, Alan

    2012-01-01

    Research with siblings of children with Autism Spectrum Disorders (ASD) suggests that they may be at increased risk for behavioural and emotional problems and relatively poor sibling relationships. This study investigated a diathesis-stress model, whereby the presence of Broad Autism Phenotype features in the typically developing siblings might…

  3. Psychosocial Adjustment and Sibling Relationships in Siblings of Children with Autism Spectrum Disorder: Risk and Protective Factors

    Science.gov (United States)

    Walton, Katherine M.; Ingersoll, Brooke R.

    2015-01-01

    This study compared sibling adjustment and relationships in siblings of children with Autism Spectrum Disorder (ASD-Sibs; n = 69) and siblings of children with typical development (TD-Sibs; n = 93). ASD-Sibs and TD-Sibs demonstrated similar emotional/behavioral adjustment. Older male ASD-Sibs were at increased risk for difficulties. Sibling…

  4. Examining the Role of Communication on Sibling Relationship Quality and Interaction for Sibling Pairs with and without a Developmental Disability

    Science.gov (United States)

    Smith, Ashlyn L.; Romski, MaryAnn; Sevcik, Rose A.

    2013-01-01

    This study examined communication interaction patterns when one sibling had a developmental disability as well as the role of communication skills in sibling relationship quality. Thirty sibling dyads were categorized into one of three communication status groups: emerging, context-dependent, and independent communicators. Independent…

  5. Family Perspectives on Siblings' Conflict Goals in Middle Childhood: Links to Hierarchical and Affective Features of Sibling Relationships

    Science.gov (United States)

    Recchia, Holly E.; Witwit, Ma-ab

    2017-01-01

    This study examined parents' and children's descriptions of older and younger siblings' conflict goals in the late preschool and middle childhood years, and how these attributions were related to sibling relationship quality. Parents and 4- to 10-year-old children from 62 families were interviewed separately about siblings' motivations in two…

  6. Adolescent Sibling Relationship Quality and Adjustment: Sibling Trustworthiness and Modeling, as Factors Directly and Indirectly Influencing These Associations

    Science.gov (United States)

    Gamble, Wendy C.; Yu, Jeong Jin; Kuehn, Emily D.

    2011-01-01

    The main goal of this study was to examine the direct and moderating effects of trustworthiness and modeling on adolescent siblings' adjustment. Data were collected from 438 families including a mother, a younger sibling in fifth, sixth, or seventh grade (M = 11.6 years), and an older sibling (M = 14.3 years). Respondents completed Web-based…

  7. Number of Siblings, Sibling Spacing, Sex, and Birth Order: Their Effects on Perceived Parent-Adolescent Relationships.

    Science.gov (United States)

    Kidwell, Jeannie S.

    1981-01-01

    Examined the effect of the sibling structures of number and spacing, sex composition, and birth order on adolescents' perceptions of the power and support dimensions of parental behavior. Results suggest that research focusing on birth order must control for number of siblings, spacing, and sex composition of siblings. (Author)

  8. Siblings and children's time use in the United States

    Directory of Open Access Journals (Sweden)

    Rachel Dunifon

    2017-11-01

    Full Text Available Background: Eighty-two percent of children under age 18 live with at least one sibling, and the sibling relationship is typically the longest-lasting family relationship in an individual's life. Nevertheless, siblings remain understudied in the family demography literature. Objective: We ask how having a sibling structures children's time spent with others and in specific activities, and how children's time and activities with siblings vary by social class, gender, and age. Methods: We use time diary data from the US Panel Study of Income Dynamics' Child Development Supplement (PSID-CDS, comparing the time use of children with and without siblings and presenting regression-adjusted descriptive statistics on patterns among those with siblings. Results: Children with siblings spend about half of their discretionary time engaged with siblings. They spend less time alone with parents and more time in unstructured play than those without siblings. Brothers and more closely spaced siblings spend more time together and more time in unstructured play. For example, boys with at least one brother spend five more hours per week with their siblings and over three more hours per week in unstructured play than boys with no brothers. Conclusions: The presence and characteristics of siblings shape children's time use in ways that may have implications for child development. Contribution: This is the first study to use children's time diary data to examine how the presence and characteristics of siblings structure ways in which children spend their time. This contributes to our broader understanding of sibling relationships and family dynamics.

  9. Siblings of Youth with Autism Spectrum Disorders: Theoretical Perspectives on Sibling Relationships and Individual Adjustment

    Science.gov (United States)

    McHale, Susan M.; Updegraff, Kimberly A.; Feinberg, Mark E.

    2015-01-01

    A burgeoning research literature investigates the sibling relationships of youth with Autism Spectrum Disorder (ASD) and their implications for individual adjustment. Focusing on four relationship domains-- behaviors, emotions, cognitions and involvement—and toward advancing this generally atheoretical literature, we review and apply tenets from a range of theoretical perspectives in an effort to illuminate the mechanisms underlying sibling relationship experiences and their adjustment implications. Our review suggests new directions for research to test theoretically-grounded hypotheses about how sibling relationships develop and are linked to individual adjustment. In addition, we consider how identifying underlying bio-psycho-social processes can aid in the development of interventions to promote warm and involved sibling relationships and positive youth development. PMID:26476737

  10. Co-evolution of human leukocyte antigen (HLA class I ligands with killer-cell immunoglobulin-like receptors (KIR in a genetically diverse population of sub-Saharan Africans.

    Directory of Open Access Journals (Sweden)

    Paul J Norman

    2013-10-01

    Full Text Available Interactions between HLA class I molecules and killer-cell immunoglobulin-like receptors (KIR control natural killer cell (NK functions in immunity and reproduction. Encoded by genes on different chromosomes, these polymorphic ligands and receptors correlate highly with disease resistance and susceptibility. Although studied at low-resolution in many populations, high-resolution analysis of combinatorial diversity of HLA class I and KIR is limited to Asian and Amerindian populations with low genetic diversity. At the other end of the spectrum is the West African population investigated here: we studied 235 individuals, including 104 mother-child pairs, from the Ga-Adangbe of Ghana. This population has a rich diversity of 175 KIR variants forming 208 KIR haplotypes, and 81 HLA-A, -B and -C variants forming 190 HLA class I haplotypes. Each individual we studied has a unique compound genotype of HLA class I and KIR, forming 1-14 functional ligand-receptor interactions. Maintaining this exceptionally high polymorphism is balancing selection. The centromeric region of the KIR locus, encoding HLA-C receptors, is highly diverse whereas the telomeric region encoding Bw4-specific KIR3DL1, lacks diversity in Africans. Present in the Ga-Adangbe are high frequencies of Bw4-bearing HLA-B*53:01 and Bw4-lacking HLA-B*35:01, which otherwise are identical. Balancing selection at key residues maintains numerous HLA-B allotypes having and lacking Bw4, and also those of stronger and weaker interaction with LILRB1, a KIR-related receptor. Correspondingly, there is a balance at key residues of KIR3DL1 that modulate its level of cell-surface expression. Thus, capacity to interact with NK cells synergizes with peptide binding diversity to drive HLA-B allele frequency distribution. These features of KIR and HLA are consistent with ongoing co-evolution and selection imposed by a pathogen endemic to West Africa. Because of the prevalence of malaria in the Ga-Adangbe and

  11. HLA-DQ Mismatching and Kidney Transplant Outcomes.

    Science.gov (United States)

    Leeaphorn, Napat; Pena, Jeremy Ryan A; Thamcharoen, Natanong; Khankin, Eliyahu V; Pavlakis, Martha; Cardarelli, Francesca

    2018-05-07

    Recent evidence suggests that HLA epitope-mismatching at HLA-DQ loci is associated with the development of anti-DQ donor-specific antibodies and adverse graft outcomes. However, the clinical significance of broad antigen HLA-DQ mismatching for graft outcomes is not well examined. Using the United Network Organ Sharing/the Organ Procurement and Transplantation Network (UNOS/OPTN) data, patients with primary kidney transplants performed between 2005 and 2014 were included. Patients were classified as having either zero HLA-DQ mismatches, or one or two HLA-DQ mismatches. Primary outcomes were death-censored graft survival and incidence of acute rejection. A total of 93,782 patients were included. Of these, 22,730 (24%) and 71,052 (76%) received zero and one or two HLA-DQ mismatched kidneys, respectively. After adjusting for variables including HLA-ABDR, HLA-DQ mismatching was associated with a higher risk of graft loss in living kidney donor recipients with an adjusted hazard ratio (HR) of 1.18 (95% confidence interval [95% CI], 1.07 to 1.30; P HLA-DQ mismatching was associated with a higher risk of graft loss in deceased kidney donor recipients with cold ischemic time ≤17 hours (HR, 1.12; 95% CI, 1.02 to 1.27; P =0.002), but not in deceased kidney donor recipients with cold ischemic time >17 hours (HR, 0.97; 95% CI, 0.88 to 1.06; P =0.49) ( P value for interaction HLA-DQ mismatched kidneys had a higher incidence of acute rejection at 1 year, with adjusted odds ratios of 1.13 (95% CI, 1.03 to 1.23; P transplant recipients. Specific donor-DQ mismatches seemed to be associated with the risk of acute rejection and graft failure, whereas others did not. HLA-DQ mismatching is associated with lower graft survival independent of HLA-ABDR in living donor kidney transplants and deceased donor kidney transplants with cold ischemia time ≤17 hours, and a higher 1-year risk of acute rejection in living and deceased donor kidney transplants. Copyright © 2018 by the American

  12. HLA-G polymorphisms in couples with recurrent spontaneous abortions

    DEFF Research Database (Denmark)

    Hviid, T V; Hylenius, S; Hoegh, A M

    2002-01-01

    % of the RSA women carried the HLA-G*0106 allele compared to 2% of the control women. The 14 bp deletion polymorphism in exon 8 was investigated separately. There were a greater number of heterozygotes for the 14 bp polymorphism in the group of fertile control women than expected, according to Hardy-Weinberg...... equilibrium. Furthermore, the HLA-G alleles without the 14 bp sequence were prominent in the RSA males in contrast to the RSA women in whom alleles including the 14 bp sequence were frequently observed, especially as homozygotes. These results are discussed in relation to two hypotheses concerning HLA...

  13. Interplay between immune responses to HLA and non-HLA self-antigens in allograft rejection.

    Science.gov (United States)

    Angaswamy, Nataraju; Tiriveedhi, Venkataswarup; Sarma, Nayan J; Subramanian, Vijay; Klein, Christina; Wellen, Jason; Shenoy, Surendra; Chapman, William C; Mohanakumar, T

    2013-11-01

    Recent studies strongly suggest an increasing role for immune responses against self-antigens (Ags) which are not encoded by the major histocompatibility complex in the immunopathogenesis of allograft rejection. Although, improved surgical techniques coupled with improved methods to detect and avoid sensitization against donor human leukocyte antigen (HLA) have improved the immediate and short term function of transplanted organs. However, acute and chronic rejection still remains a vexing problem for the long term function of the transplanted organ. Immediately following organ transplantation, several factors both immune and non immune mechanisms lead to the development of local inflammatory milieu which sets the stage for allograft rejection. Traditionally, development of antibodies (Abs) against mismatched donor HLA have been implicated in the development of Ab mediated rejection. However, recent studies from our laboratory and others have demonstrated that development of humoral and cellular immune responses against non-HLA self-Ags may contribute in the pathogenesis of allograft rejection. There are reports demonstrating that immune responses to self-Ags especially Abs to the self-Ags as well as cellular immune responses especially through IL17 has significant pro-fibrotic properties leading to chronic allograft failure. This review summarizes recent studies demonstrating the role for immune responses to self-Ags in allograft immunity leading to rejection as well as present recent evidence suggesting there is interplay between allo- and autoimmunity leading to allograft dysfunction. Copyright © 2013 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  14. Plasma Levels of Soluble HLA-E and HLA-F at Diagnosis May Predict Overall Survival of Neuroblastoma Patients

    Directory of Open Access Journals (Sweden)

    Fabio Morandi

    2013-01-01

    Full Text Available The purpose of this study was to identify the plasma/serum biomarkers that are able to predict overall survival (OS of neuroblastoma (NB patients. Concentration of soluble (s biomarkers was evaluated in plasma (sHLA-E, sHLA-F, chromogranin, and B7H3 or serum (calprotectin samples from NB patients or healthy children. The levels of biomarkers that were significantly higher in NB patients were then analyzed considering localized or metastatic subsets. Finally, biomarkers that were significantly different in these two subsets were correlated with patient’s outcome. With the exception of B7H3, levels of all molecules were significantly higher in NB patients than those in controls. However, only chromogranin, sHLA-E, and sHLA-F levels were different between patients with metastatic and localized tumors. sHLA-E and -F levels correlated with each other but not chromogranin. Chromogranin levels correlated with different event-free survival (EFS, whereas sHLA-E and -F levels also correlated with different OS. Association with OS was also detected considering only patients with metastatic disease. In conclusion, low levels of sHLA-E and -F significantly associated with worse EFS/OS in the whole cohort of NB patients and in patients with metastatic NB. Thus, these molecules deserve to be tested in prospective studies to evaluate their predictive power for high-risk NB patients.

  15. Parent & Child Perceptions of Child Health after Sibling Death

    OpenAIRE

    Roche, Rosa M.; Brooten, Dorothy; Youngblut, JoAnne M.

    2016-01-01

    Background Understanding children?s health after a sibling?s death and what factors may affect it is important for treatment and clinical care. This study compared children?s and their parents? perceptions of children?s health and identified relationships of children?s age, gender, race/ethnicity, anxiety, and depression and sibling?s cause of death to these perceptions at 2 and 4 months after sibling death. Methods 64 children and 48 parents rated the child?s health ?now? and ?now vs before?...

  16. From Parents to Siblings and Peers

    Directory of Open Access Journals (Sweden)

    Isabelle Roskam

    2015-10-01

    Full Text Available The objective of the current research was to test the hypotheses arising from the epigenetic view of social development and from the wider perspective offered by the social network model with three interactional systems, that is, child–parent, child–sibling, and child–peer. They were tested in two prospective longitudinal studies using a multi-informant and multi-method strategy. Study 1 was conducted among 83 children and their parents and Study 2 among 190 children. Attachment security with parents was assessed when the children were 4 years of age, relationships with siblings at 5 years of age, and relationships with peers at 6 years of age. Attachment to parent was found to explain a limited part of variations in later social relationships with siblings and peers. The sibling interactional system had a consistent and enduring effect on later peer relationships. With regard to the two theoretical backgrounds under consideration, neither was able to account for equivocal findings displayed in the two studies as well as in previous research. The wonderful story of social development seems to be a very complex process for which new models are needed.

  17. Life Span Personality Stability in Sibling Statuses.

    Science.gov (United States)

    Rosenberg, B. G.

    Personality stability and change in sibling status in the one- and two-child-family are examined in this Study. Q-sort data were analyzed for the same 33 male and 34 female subjects during four periods of their lives-- early and late adolescence and early and middle adulthood. Results indicate that stability of personality was greatest during…

  18. The Family Contexts of Children's Sibling Relationships.

    Science.gov (United States)

    McHale, Susan M.; Crouter, Ann C.

    1996-01-01

    Unlike much previous research on sibling relationships, which emphasizes the congruence across various types of family experiences, the research described in this article explored between-family differences in patterns of experiences within families. The work is built upon Bronfenbrenner's ecological model and Magnusson's interactional…

  19. Sibling Gender Configuration and Family Processes

    NARCIS (Netherlands)

    van der Pol, Lotte D.; Mesman, Judi; Groeneveld, Marleen G.; Endendijk, Joyce J.; van Berkel, Sheila R.; Hallers-Haalboom, Elizabeth T.; Bakermans-Kranenburg, Marian J.

    2016-01-01

    The current study focuses on the effects of sibling gender configuration on family processes during early childhood. In a sample of 369 two-parent families with two children (youngest 12 months, oldest about 2 years older), both siblings’ noncompliant and oppositional behaviors and fathers’ and

  20. Divergent trophic levels in two cryptic sibling bat species.

    Science.gov (United States)

    Siemers, Björn M; Greif, Stefan; Borissov, Ivailo; Voigt-Heucke, Silke L; Voigt, Christian C

    2011-05-01

    Changes in dietary preferences in animal species play a pivotal role in niche specialization. Here, we investigate how divergence of foraging behaviour affects the trophic position of animals and thereby their role for ecosystem processes. As a model, we used two closely related bat species, Myotis myotis and M. blythii oxygnathus, that are morphologically very similar and share the same roosts, but show clear behavioural divergence in habitat selection and foraging. Based on previous dietary studies on synanthropic populations in Central Europe, we hypothesised that M. myotis would mainly prey on predatory arthropods (i.e., secondary consumers) while M. blythii oxygnathus would eat herbivorous insects (i.e., primary consumers). We thus expected that the sibling bats would be at different trophic levels. We first conducted a validation experiment with captive bats in the laboratory and measured isotopic discrimination, i.e., the stepwise enrichment of heavy in relation to light isotopes between consumer and diet, in insectivorous bats for the first time. We then tested our trophic level hypothesis in the field at an ancient site of natural coexistence for the two species (Bulgaria, south-eastern Europe) using stable isotope analyses. As predicted, secondary consumer arthropods (carabid beetles; Coleoptera) were more enriched in (15)N than primary consumer arthropods (tettigoniids; Orthoptera), and accordingly wing tissue of M. myotis was more enriched in (15)N than tissue of M. blythii oxygnathus. According to a Bayesian mixing model, M. blythii oxygnathus indeed fed almost exclusively on primary consumers (98%), while M. myotis ate a mix of secondary (50%), but also, and to a considerable extent, primary consumers (50%). Our study highlights that morphologically almost identical, sympatric sibling species may forage at divergent trophic levels, and, thus may have different effects on ecosystem processes.

  1. Polyphyly and gene flow between non-sibling Heliconius species

    Directory of Open Access Journals (Sweden)

    Jiggins Chris D

    2006-04-01

    Full Text Available Abstract Background The view that gene flow between related animal species is rare and evolutionarily unimportant largely antedates sensitive molecular techniques. Here we use DNA sequencing to investigate a pair of morphologically and ecologically divergent, non-sibling butterfly species, Heliconius cydno and H. melpomene (Lepidoptera: Nymphalidae, whose distributions overlap in Central and Northwestern South America. Results In these taxa, we sequenced 30–45 haplotypes per locus of a mitochondrial region containing the genes for cytochrome oxidase subunits I and II (CoI/CoII, and intron-spanning fragments of three unlinked nuclear loci: triose-phosphate isomerase (Tpi, mannose-6-phosphate isomerase (Mpi and cubitus interruptus (Ci genes. A fifth gene, dopa decarboxylase (Ddc produced sequence data likely to be from different duplicate loci in some of the taxa, and so was excluded. Mitochondrial and Tpi genealogies are consistent with reciprocal monophyly, whereas sympatric populations of the species in Panama share identical or similar Mpi and Ci haplotypes, giving rise to genealogical polyphyly at the species level despite evidence for rapid sequence divergence at these genes between geographic races of H. melpomene. Conclusion Recent transfer of Mpi haplotypes between species is strongly supported, but there is no evidence for introgression at the other three loci. Our results demonstrate that the boundaries between animal species can remain selectively porous to gene flow long after speciation, and that introgression, even between non-sibling species, can be an important factor in animal evolution. Interspecific gene flow is demonstrated here for the first time in Heliconius and may provide a route for the transfer of switch-gene adaptations for Müllerian mimicry. The results also forcefully demonstrate how reliance on a single locus may give an erroneous picture of the overall genealogical history of speciation and gene flow.

  2. HLA antigens in juvenile onset diabetes.

    Science.gov (United States)

    Kikuchi, T; Toyota, T; Ouchi, E

    1980-11-01

    To study association between juvenile onset diabetes (JOD) and major histocompatibility gene complex, 40 patients with childhood onset diabetes and 120 healthy subjects were typed for HLA. Bw54 was present in 33 percent of the patients with JOD, while it appeared in 8 percent of the controls. Expressed as a relative risk, the antigen Bw54 confers a susceptibility to the development of JOD which is 5.3 times that in the controls. JOD shows a little high degree of association with A9 (78%). However, the A9-antigen is common in the Japanese and appears in 58 percent. Though less striking, the decreased frequency of B12 was 3 percent of JOD, less than 15 percent of the controls (p less than 0.05). There was no association between Bw54 and JOD with family history of diabetes.

  3. HLA-A*01:03, HLA-A*24:02, HLA-B*08:01, HLA-B*27:05, HLA-B*35:01, HLA-B*44:02, and HLA-C*07:01 Monochain Transgenic/H-2 Class I Null Mice

    DEFF Research Database (Denmark)

    Boucherma, Rachid; Kridane-Miledi, Hédia; Bouziat, Romain

    2013-01-01

    We have generated a panel of transgenic mice expressing HLA-A*01:03, -A*24:02, -B*08:01, -B*27:05, -B*35:01, -B*44:02, or -C*07:01 as chimeric monochain molecules (i.e., appropriate HLA α1α2 H chain domains fused with a mouse α3 domain and covalently linked to human β2-microglobulin). Whereas...... a quantitative and qualitative restoration of the peripheral CD8(+) T cell repertoire, which exhibited a TCR diversity comparable with C57BL/6 WT mice. Potent epitope-specific, HLA-restricted, IFN-γ-producing CD8(+) T cell responses were generated against known reference T cell epitopes after either peptide...

  4. Identity transformation

    DEFF Research Database (Denmark)

    Neergaard, Helle; Robinson, Sarah; Jones, Sally

    , as well as the resources they have when they come to the classroom. It also incorporates perspectives from (ii) transformational learning and explores the concept of (iii) nudging from a pedagogical viewpoint, proposing it as an important tool in entrepreneurship education. The study incorporates......This paper develops the concept of ‘pedagogical nudging’ and examines four interventions in an entrepreneurship classroom and the potential it has for student identity transformation. Pedagogical nudging is positioned as a tool, which in the hands of a reflective, professional......) assists students in straddling the divide between identities, the emotions and tensions this elicits, and (iv) transform student understanding. We extend nudging theory into a new territory. Pedagogical nudging techniques may be able to unlock doors and bring our students beyond the unacknowledged...

  5. Familial risk and sibling mentalization: Links with preschoolers' internalizing problems.

    Science.gov (United States)

    Rodrigues, Michelle; Binnoon-Erez, Noam; Prime, Heather; Perlman, Michal; Jenkins, Jennifer M

    2017-09-01

    The current study explored whether older sibling mentalization moderated the relationship between familial risk for internalizing symptoms and the development of future internalizing problems in the younger siblings, referred to as target children. Data were collected on 397 older siblings at Time 1 (T1) when target children were newborn and their older siblings were on average 2.61 years old (SD = .75). Target children were on average 1.60 years old at Time 2 (T2). Internalizing problems were assessed via mother and partner reports. Familial risk was operationalized as the average of all older siblings' level of internalizing problems. Older sibling mentalization, indexed by internal state talk and reasoning, was observed and coded during a sibling pretend-play interaction at T2. Results revealed a significant interaction between familial risk of internalizing problems and older siblings' mentalizing abilities, showing that familial risk was related to target children's internalizing problems in the absence of sibling mentalization. Familial risk was not associated with target children's internalizing problems when siblings demonstrated mentalizing abilities. Findings support the need to consider sibling mentalization as a protective factor for children's internalizing problems. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  6. Assessing functional impairment in siblings living with children with disability.

    Science.gov (United States)

    Goudie, Anthony; Havercamp, Susan; Jamieson, Barry; Sahr, Timothy

    2013-08-01

    The purpose of this study was to empirically test if siblings of children with disability had higher levels of parent-reported behavioral and emotional functional impairment compared with a peer group of siblings residing with only typically developing children. This was a retrospective secondary analysis of data from the Medical Expenditure Panel Survey. We included only households with at least 2 children to ensure sibling relationships. Two groups of siblings were formed: 245 siblings resided in households with a child with disability and 6564 siblings resided in households with typically developing children. Parents responded to questions from the Columbia Impairment Scale to identify functional impairment in their children. On the basis of parent reports and after adjusting for sibling demographic characteristics and household background, siblings of children with disability were more likely than siblings residing with typically developing children to have problems with interpersonal relationships, psychopathological functioning, functioning at school, and use of leisure time (P siblings of children with disability classified with significant functional impairment was 16.0% at the first measurement period and 24.2% at the second (P siblings of typically developing children there was a smaller percentage increase from 9.5% to 10.3% (P mental health services and, as such, early assessment and interventions to limit increasing severity and short- to long-term consequences need to be addressed. Health care professionals need to consider a family-based health care approach for families raising children with disability.

  7. The Project TALENT Twin and Sibling Study.

    Science.gov (United States)

    Prescott, Carol A; Achorn, Deanna Lyter; Kaiser, Ashley; Mitchell, Lindsey; McArdle, John J; Lapham, Susan J

    2013-02-01

    Project TALENT is a US national longitudinal study of about 377,000 individuals born in 1942-1946, first assessed in 1960. Students in about 1,200 schools participated in a 2-day battery covering aptitudes, abilities, interests, and individual and family characteristics (Flanagan, 1962; www.projectTALENT.org). Follow-up assessments 1, 5, and 11 years later assessed educational and occupational outcomes. The sample includes approximately 92,000 siblings from 40,000 families, including 2,500 twin pairs and 1,200 other siblings of twins. Until recently, almost no behavior genetic research has been conducted with the sample. In the original data collection information was not collected with the intent to link family members. Recently, we developed algorithms using names, addresses, birthdates, and information about family structure to link siblings and identify twins. We are testing several methods to determine zygosity, including use of yearbook photographs. In this paper, we summarize the design and measures in Project TALENT, describe the Twin and Sibling sample, and present our twin-sib-classmate model. In most twin and family designs, the 'shared environment' includes factors specific to the family combined with between-family differences associated with macro-level variables such as socioeconomic status. The school-based sampling design used in Project TALENT provides a unique opportunity to partition the shared environment into variation shared by siblings, specific to twins, and associated with school- and community-level factors. The availability of many measured characteristics on the family, schools, and neighborhoods enhances the ability to study the impact of specific factors on behavioral variation.

  8. Immune response gene control of collagen reactivity in man: collagen unresponsiveness in HLA-DR4 negative nonresponders is due to the presence of T-dependent suppressive influences

    International Nuclear Information System (INIS)

    Solinger, A.M.; Stobo, J.D.

    1982-01-01

    To determine whether the failure to detect collagen reactivity in nonresponders represents an absence of collagen-reactive T cells or a preponderance of suppressive influences, the peripheral blood mononuclear cells from HLA-DR4 - individuals were subjected to three procedures capable of separating suppressive influences from LIF-secreting cells; irradiation (1000 rad), discontinuous gradient fractionation, and cytolysis with the monoclonal antibody OKT 8. Each procedure resulted in the specific appearance of reactivity to collagen, which was identical to that seen in HLA-DR4 + individuals with regard to its cellular requirements and antigenic specificity. Addition of unresponsive (i.e., nonirradiated or low-density T cells) to responsive (i.e., irradiated or high-density T cells) autologous populations resulted in specific suppression of collagen reactivity. Radiation-sensitive suppressive influences could not be detected in HLA-DR4 + collagen responders.These studies indicate that the expression of T-dependent reactivity to collagen in man reflects the net influence of collage-reactive vs collagen-suppressive T cells. Moreover, it is the influence of HLA-D-linked genes on the development of suppressive influences rather than on the development of collagen-reactive, LIF-secreting T cells that serves to distinguish HLA-DR4 + collagen responders from HLA-DR4 - collagen nonresponders

  9. Positive and Negative Interactions Observed Between Siblings: Moderating Effects for Children Exposed to Parents’ Conflict

    OpenAIRE

    Iturralde, Esti; Margolin, Gayla; Spies Shapiro, Lauren A.

    2013-01-01

    This study investigated links between interparental conflict appraisals (specifically threat and self-blame), sibling relationship quality (positive and negative dimensions), and anxiety in sibling pairs comprised of an adolescent and a younger sibling close in age. Sibling relationship quality was measured through behavioral observation. Links between self-blame and anxiety were moderated by sibling relationship quality. In older siblings, positive behavior with a sibling was associated with...

  10. Living with a brother or sister with epilepsy: siblings' experiences.

    Science.gov (United States)

    Hames, Annette; Appleton, Richard

    2009-12-01

    There is conflicting evidence about the impact of disability upon siblings, and very little research on the siblings of children with epilepsy. There is some evidence that siblings who have less accurate information exhibit more distress. The aim of this study was to assess siblings' response to having a brother or sister with epilepsy and to begin to develop information for them. Parents of children attending paediatric neurology outpatient departments were invited to participate in a pilot study. Parents who consented to take part were asked if they had previously received information for siblings. Parents and siblings participated in a semi-structured interview and siblings were also invited to submit a personal account of living with a brother or sister who had epilepsy. Twenty-five families with a child with epilepsy aged 2.5-15 years initially agreed to take part. None of the families stated that they had ever seen or received any information specifically for siblings. Fourteen siblings from the 25 families, aged 8-25 years, provided a personal account of what it was like living with a brother or sister with epilepsy. Siblings' accounts included both negative and positive feelings, and specifically feelings of care and love for their sibling. This initial study suggests that siblings of children with epilepsy have many positive but also early negative feelings. The results are limited by the size of the study, the fact that most siblings were older sisters, and the mean time since diagnosis was 6 years. Finally, it is hoped that the personal accounts collected in this study will be published for the benefit of other siblings of children with epilepsy.

  11. Genetic modelling in schizophrenia according to HLA typing.

    Science.gov (United States)

    Smeraldi, E; Macciardi, F; Gasperini, M; Orsini, A; Bellodi, L; Fabio, G; Morabito, A

    1986-09-01

    Studying families of schizophrenic patients, we observed that the risk of developing the overt form of the illness could be enhanced by some factors. Among these various factors we focused our attention on a biological variable, namely the presence or the absence of particular HLA antigens: partitioning our schizophrenic patients according to their HLA structure (i.e. those with HLA-A1 or CRAG-A1 antigens and those with HLA-non-CRAG-A1 antigens, respectively), revealed different illness distribution in the two groups. From a genetic point of view, this finding suggests the presence of heterogeneity in the hypothetical liability system related to schizophrenia and we evaluated the heterogeneity hypothesis by applying alternative genetic models to our data, trying to detect more biologically homogeneous subgroups of the disease.

  12. The interaction between smoking and HLA genes in multiple sclerosis

    DEFF Research Database (Denmark)

    Hedström, Anna Karin; Katsoulis, Michail; Hössjer, Ola

    2017-01-01

    Interactions between environment and genetics may contribute to multiple sclerosis (MS) development. We investigated whether the previously observed interaction between smoking and HLA genotype in the Swedish population could be replicated, refined and extended to include other populations. We us...

  13. Origin of Azeris (Iran) according to HLA genes

    African Journals Online (AJOL)

    toshiba

    2017-10-17

    Oct 17, 2017 ... ... Complutense, School of Medicine, Madrid Regional Blood Center, Madrid, ... between donor and receptor in organ transplantation and several HLA alleles ..... adverse reactions, according to the presence of frequent HLA ...

  14. Pacific Islanders and Amerindian relatedness according to HLA ...

    African Journals Online (AJOL)

    groups of populations, like the presence of South American sweet potato in earlier .... Aymara (Bolivia), Uros (Peru) and Lamas (Peru) populations were .... Redish to yellow colours mean a gradient of HLA relatedness according to geography.

  15. Peptide binding predictions for HLA DR, DP and DQ molecules

    DEFF Research Database (Denmark)

    Wang, P.; Sidney, J.; Kim, Y.

    2010-01-01

    a significant gap in knowledge as HLA DP and DQ molecules are presumably equally important, and have only been studied less because they are more difficult to handle experimentally. RESULTS: In this study, we aimed to narrow this gap by providing a large scale dataset of over 17,000 HLA-peptide binding...... affinities for a set of 11 HLA DP and DQ alleles. We also expanded our dataset for HLA DR alleles resulting in a total of 40,000 MHC class II binding affinities covering 26 allelic variants. Utilizing this dataset, we generated prediction tools utilizing several machine learning algorithms and evaluated...... include all training data for maximum performance. 4) The recently developed NN-align prediction method significantly outperformed all other algorithms, including a naïve consensus based on all prediction methods. A new consensus method dropping the comparably weak ARB prediction method could outperform...

  16. Genetic and Environmental Etiologies of Reading Difficulties: DeFries-Fulker Analysis of Reading Performance Data from Twin Pairs and Their Non-Twin Siblings

    Science.gov (United States)

    Astrom, Raven L.; Wadsworth, Sally J.; Olson, Richard K.; Willcutt, Erik G.; DeFries, John C.

    2012-01-01

    Reading performance data from 254 pairs of identical (MZ) and 420 pairs of fraternal (DZ) twins, 8.0 to 20.0 years of age, were subjected to multiple regression analyses. An extension of the DeFries-Fulker (DF) analysis (DeFries & Fulker, 1985, 1988) that facilitated inclusion of data from 303 of their nontwin siblings was employed. In addition to…

  17. Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis.

    Science.gov (United States)

    Venkateswaran, Suresh; Prince, Jarod; Cutler, David J; Marigorta, Urko M; Okou, David T; Prahalad, Sampath; Mack, David; Boyle, Brendan; Walters, Thomas; Griffiths, Anne; Sauer, Cary G; LeLeiko, Neal; Keljo, David; Markowitz, James; Baker, Susan S; Rosh, Joel; Pfefferkorn, Marian; Heyman, Melvin B; Patel, Ashish; Otley, Anthony; Baldassano, Robert; Noe, Joshua; Rufo, Paul; Oliva-Hemker, Maria; Davis, Sonia; Zwick, Michael E; Gibson, Greg; Denson, Lee A; Hyams, Jeffrey; Kugathasan, Subra

    2018-03-19

    The genetic contributions to pediatric onset ulcerative colitis (UC), characterized by severe disease and extensive colonic involvement, are largely unknown. In adult onset UC, Genome Wide Association Study (GWAS) has identified numerous loci, most of which have a modest susceptibility risk (OR 0.84-1.14), with the exception of the human leukocyte antigen (HLA) region on Chromosome 6 (OR 3.59). To study the genetic contribution to exclusive pediatric onset UC, a GWAS was performed on 466 cases with 2099 healthy controls using UK Biobank array. SNP2HLA was used to impute classical HLA alleles and their corresponding amino acids, and the results are compared with adult onset UC. HLA explained the almost entire association signal, dominated with 191 single nucleotide polymorphisms (SNPs) (p = 5 x 10-8 to 5 x 10-10). Although very small effects, established SNPs in adult onset UC loci had similar direction and magnitude in pediatric onset UC. SNP2HLA imputation identified HLA-DRB1*0103 (odds ratio [OR] = 6.941, p = 1.92*10-13) as the most significant association for pediatric UC compared with adult onset UC (OR = 3.59). Further conditioning showed independent effects for HLA-DRB1*1301 (OR = 2.25, p = 7.92*10-9) and another SNP rs17188113 (OR = 0.48, p = 7.56*10-9). Two HLA-DRB1 causal alleles are shared with adult onset UC, while at least 2 signals are unique to pediatric UC. Subsequent stratified analyses indicated that HLA-DRB1*0103 has stronger association for extensive disease (E4: OR = 8.28, p = 4.66x10-10) and female gender (OR = 8.85, p = 4.82x10-13). In pediatric onset UC, the HLA explains almost the entire genetic associations. In addition, the HLA association is approximately twice as strong in pediatric UC compared with adults, due to a combination of novel and shared effects. We speculate the paramount importance of antigenic stimulation either by infectious or noninfectious stimuli as a causal event in pediatric UC onset.

  18. Allorecognition of HLA-C mismatches by CD8+ T cells in hematopoietic stem cell transplantation is a complex interplay between mismatched peptide binding region residues, HLA-C expression and HLA-DPB1 disparities

    Directory of Open Access Journals (Sweden)

    Florence Bettens

    2016-12-01

    Full Text Available HLA-C locus mismatches are the most frequent class I disparities in unrelated hematopoietic stem cell transplantation (HSCT and have a detrimental impact on clinical outcome. Recently, a few retrospective clinical studies have reported some variability in the immunogenicity of HLA-C incompatibilities. To get better insight into presumably permissive HLA-C mismatches we have developed a one-way in vitro mixed lymphocyte reaction (MLR assay allowing to quantify activated CD56-CD137+CD8+ lymphocytes in HLA-C incompatible combinations. T cell-mediated alloresponses were correlated with genetic markers such as HLA-C mRNA expression and the number of amino acid mismatches in the α1/α2 domains (peptide binding region. Because of the high rate of HLA-DPB1 incompatibilities in HLA-A, B, C, DRB1 and DQB1 matched unrelated HSCT patient/donor pairs, the impact of HLA-DPB1 mismatching, a potential bystander of CD4+ T cell activation, was also considered. Heterogeneous alloresponses were measured in 63 HLA-C mismatched pairs with a positive assay in 52% of the combinations (2.3-18.6% activated CTLs, representing 24 different HLA-A~B~DRB1~DQB1 haplotypes. There was no correlation between measured alloresponses and mRNA expression of the mismatched HLA-C alleles. The HLA-C*03:03/03:04 mismatch did not induce any positive alloresponse in 5 MLRs. We also identified HLA-C*02:02 and HLA-C*06:02 as mismatched alleles with lower immunogenicity, and HLA-C*14:02 as a more immunogenic mismatch. A difference of at least 10 amino acid residues known to impact peptide/TCR binding and a bystander HLA-DPB1 incompatibility had a significant impact on CTL alloreactivity (p=0.021. The same HLA-C mismatch, when recognized by two different responders with the same HLA haplotypes, was recognized differently, emphasizing the role of the T-cell repertoire of responding cells. In conclusion, mismatched HLA-C alleles differing by10 or more amino acids in the peptide/TCR binding

  19. The role of HLA antibodies in allogeneic SCT: is the 'type-and-screen' strategy necessary not only for blood type but also for HLA?

    Science.gov (United States)

    Yoshihara, S; Taniguchi, K; Ogawa, H; Saji, H

    2012-12-01

    The role of HLA antibodies in SCT has drawn increasing attention because of the significantly increased number of patients who receive HLA-mismatched SCT, including cord blood transplantation, haploidentical SCT and unrelated SCT. Technical advancements in the methods of HLA Ab testing have realized rapid, accurate and objective identification, as well as quantification of specific HLA antibodies. Recent clinical studies have suggested that the presence of donor-specific HLA antibodies (DSA) in patients is associated with graft failure in HLA-mismatched SCT when the above-listed stem cell sources are used and results in different impacts. Of note, most of the 'HLA-matched' unrelated SCT actually involve HLA mismatches in HLA-DP and the presence of antibodies against this locus has been reported to be associated with graft failure. Thus, HLA Ab should be examined as a work-up for all patients who undergo SCT from 'alternative donors.' The simplest route for preventing HLA Ab-mediated graft failure in Ab-positive patients is to avoid donors who possess the target Ag of HLA antibodies. If SCT from such donors must be performed, treatment for DSA before SCT may improve the chances of successful donor engraftment.

  20. Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk

    NARCIS (Netherlands)

    Hu, Xinli; Deutsch, Aaron J; Lenz, Tobias L; Onengut-Gumuscu, Suna; Han, Buhm; Chen, Wei-Min; Howson, Joanna M M; Todd, John A; de Bakker, Paul I W; Rich, Stephen S; Raychaudhuri, Soumya

    Variation in the human leukocyte antigen (HLA) genes accounts for one-half of the genetic risk in type 1 diabetes (T1D). Amino acid changes in the HLA-DR and HLA-DQ molecules mediate most of the risk, but extensive linkage disequilibrium complicates the localization of independent effects. Using

  1. Expression of the major histocompatibility antigens HLA-A2 and HLA-B7 by DNA-mediated gene transfer

    NARCIS (Netherlands)

    Bernabeu, C.; Finlay, D.; van de Rijn, M.; Maziarz, R. T.; Biro, P. A.; Spits, H.; de Vries, J.; Terhorst, C. P.

    1983-01-01

    Genes coding for the heavy chain of the class I antigens HLA-A2 or HLA-B7 of the human major histocompatibility complex have been introduced into mouse LtK- cells by cotransfection with the herpes simplex virus thymidine kinase gene. HAT-resistant colonies were isolated expressing either HLA-A2 or

  2. The effect of HLA mismatches, shared cross-reactive antigen groups, and shared HLA-DR antigens on the outcome after pediatric liver transplantation

    NARCIS (Netherlands)

    Sieders, E; Hepkema, BG; Peeters, PMJG; Ten Vergert, EM; De Jong, KP; Porte, RJ; Bijleveld, CMA; van den Berg, AP; Lems, SPM; Gouw, ASH; Slooff, MJH

    2005-01-01

    The aim of this study was to analyze the effect of human leukocyte antigen (HLA) class I and HLA-DR mismatching, sharing cross-reactive antigen groups (CREGs), and sharing HLA-DR antigens on the outcome after pediatric liver transplantation. Outcome parameters were graft survival, acute rejection,

  3. Influence of HLA-DRB1* incompatibility on the occurrence of rejection episodes and graft survival in serologically HLA-DR-matched renal transplant combinations

    NARCIS (Netherlands)

    Lardy, N. M.; van der Horst, A. R.; ten Berge, I. J.; Surachno, S.; Wilmink, J. M.; de Waal, L. P.

    1997-01-01

    BACKGROUND: The aim of the present study was to analyze the effect of HLA-DRB1* mismatches on graft function and graft survival in 92 patients who received serologically HLA-DR split antigen-matched cadaveric renal transplants. METHODS: The polymorphic second exon of the HLA-DRB1 alleles was typed

  4. Clinical cytometry and progress in HLA antibody detection.

    Science.gov (United States)

    Bray, Robert A; Tarsitani, Christine; Gebel, Howard M; Lee, Jar-How

    2011-01-01

    For most solid organ and selected stem cell transplants, antibodies against mismatched HLA antigens can lead to early and late graft failure. In recognition of the clinical significance of these antibodies, HLA antibody identification is one of the most critical functions of histocompatibility laboratories. Early methods employed cumbersome and insensitive complement-dependent cytotoxicity assays with a visual read-out. A little over 20 years ago flow cytometry entered the realm of antibody detection with the introduction of the flow cytometric crossmatch. Cytometry's increased sensitivity and objectivity quickly earned it popularity as a preferred crossmatch method especially for sensitized recipients. Although a sensitive method, the flow crossmatch was criticized as being "too sensitive" as false positive reactions were a know drawback. In part, the shortcomings of the flow crossmatch were due to the lack of corresponding sensitive and specific HLA antibody screening assays. However, in the mid 1990s, solid phase assays, capable of utilizing standard flow cytometers, were developed. These assays used microparticles coated with purified HLA molecules. Hence, the era of solid-phase, microparticle technology for HLA antibody detection was born permitting the sensitive and specific detection of HLA antibody. It was now possible to provide better correlation between HLA antibody detection and the flow cytometric crossmatch. This flow-based technology was soon followed by adaptation to the Luminex platform permitting a mutltiplexed approach for the identification and characterization of HLA antibodies. It is hoped that these technologies will ultimately lead to the identification of parameters that best correlate with and/or predict transplant outcomes. Copyright © 2011 Elsevier Inc. All rights reserved.

  5. Strategien zur HLA-Typisierung mit PyrosequencingTM

    OpenAIRE

    Entz, Patricia

    2006-01-01

    Der Haupthistokompatibilitätskomplex ist durch seine biologische Funktion eine für die Diagnostik und Forschung äußerst wichtige Region im humanen Genom. Die Untersuchung von HLA-Genorten stellt ein wichtiges Instrument in der molekulargenetischen Praxis dar. Die Pyrosequencing-Technik ist gut geeignet, um kurze DNA-Abschnitte mit weitgehend bekannter Sequenz schnell und effizient zu untersuchen. Ziel dieser Arbeit war die Entwicklung von Pyrosequencing-basierten Methoden zur HLA-Typisierung....

  6. Sibling relationship quality and psychosocial outcomes among adult siblings of individuals with autism spectrum disorder and individuals with intellectual disability without autism.

    Science.gov (United States)

    Tomeny, Theodore S; Ellis, Brandi M; Rankin, James A; Barry, Tammy D

    2017-03-01

    Research on adult typically-developing (TD) siblings of individuals with developmental disabilities remains limited, and outcomes for TD siblings appear to vary widely. For the current study, 82 adult TD siblings of individuals with autism spectrum disorder (ASD) or intellectual disability (ID) completed questionnaires about themselves and their affected sibling. Results of this study suggest that the attitudes possessed by adult TD siblings are important to consider when understanding adult TD sibling outcomes. Specifically, data indicate that higher levels of positive sibling relationship attitudes are related to TD siblings providing more aid/support to their sibling with a disability, along with having higher levels of general life satisfaction, and negatively related to levels of stress and depressive symptoms among TD siblings. Consistent with previous child research, siblings of individuals with ASD reported fewer positive sibling relationship attitudes compared to siblings of individuals with ID. Finally, group membership related to aid provided, depressive symptoms, and stress of TD siblings indirectly through sibling relationship attitudes. Overall, results indicate that sibling relationship attitudes may be particularly important to consider when conceptualizing sibling relationships when one sibling has an intellectual or developmental disability. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Defective HLA class I antigen processing machinery in cancer.

    Science.gov (United States)

    Cai, Lei; Michelakos, Theodoros; Yamada, Teppei; Fan, Song; Wang, Xinhui; Schwab, Joseph H; Ferrone, Cristina R; Ferrone, Soldano

    2018-02-27

    Malignant transformation of cells is frequently associated with defective HLA class I antigen processing machinery (APM) component expression. This abnormality may have functional relevance, since it may have a negative impact on tumor cell recognition by cognate T cells. Furthermore, HLA class I APM abnormalities appear to have clinical significance, since they are associated with poor prognosis in several malignant diseases and may play a role in the resistance to immune checkpoint inhibitor-based immunotherapy. In this paper, we have reviewed the literature describing abnormalities in HLA class I APM component expression in many types of cancer. These abnormalities have been reported in all types of cancer analyzed with a frequency ranging between a minimum of 35.8% in renal cancer and a maximum of 87.9% in thyroid cancer for HLA class I heavy chains. In addition, we have described the molecular mechanisms underlying defects in HLA class I APM component expression and function by malignant cells. Lastly, we have discussed the clinical significance of HLA class I APM component abnormalities in malignant tumors.

  8. Utility of HLA Antibody Testing in Kidney Transplantation

    Science.gov (United States)

    Konvalinka, Ana

    2015-01-01

    HLA antigens are polymorphic proteins expressed on donor kidney allograft endothelium and are critical targets for recipient immune recognition. HLA antibodies are risk factors for acute and chronic rejection and allograft loss. Solid-phase immunoassays for HLA antibody detection represent a major advance in sensitivity and specificity over cell-based methods and are widely used in organ allocation and pretransplant risk assessment. Post-transplant, development of de novo donor–specific HLA antibodies and/or increase in donor-specific antibodies from pretransplant levels are associated with adverse outcomes. Although single antigen bead assays have allowed sensitive detection of recipient HLA antibodies and their specificities, a number of interpretive considerations must be appreciated to understand test results in clinical and research contexts. This review, which is especially relevant for clinicians caring for transplant patients, discusses the technical aspects of single antigen bead assays, emphasizes their quantitative limitations, and explores the utility of HLA antibody testing in identifying and managing important pre- and post-transplant clinical outcomes. PMID:25804279

  9. New insights of HLA class I association to Behçet's disease in Portuguese patients.

    Science.gov (United States)

    Bettencourt, A; Pereira, C; Carvalho, L; Carvalho, C; Patto, J V; Bastos, M; Silva, A M; Barros, R; Vasconcelos, C; Paiva, P; Costa, L; Costa, P P; Mendonça, D; Correia, J; Silva, B M

    2008-10-01

    Human leukocyte antigen (HLA)-B*51 is a well-known genetic factor associated with Behçet's disease (BD). To analyse the influence of HLA-B*51 and other HLA class I alleles in BD susceptibility in a Portuguese population and its association with disease severity, we studied 78 BD patients and 208 healthy controls. The patients were classified into two severity groups as described by Gul et al. As expected, a higher frequency of HLA-B*51 was found. The frequency of HLA-Cw*16 alleles was significantly higher in patients. Regarding severity, HLA-B*27 frequency was higher in the severe group compared with controls and with the mild group. Thus, HLA-B*51 and HLA-Cw*16 seem to confer susceptibility to BD in this patients. HLA-B*27 may be important as a prognostic factor.

  10. Sibling influence on mexican-origin adolescents' deviant and sexual risk behaviors: the role of sibling modeling.

    Science.gov (United States)

    Whiteman, Shawn D; Zeiders, Katharine H; Killoren, Sarah E; Rodriguez, Sue Annie; Updegraff, Kimberly A

    2014-05-01

    A growing body of research indicates that siblings uniquely influence each other's health risk behaviors during adolescence and young adulthood. Mechanisms underlying these associations, however, are largely unknown because they are rarely tested directly. The present study addressed this gap by examining the role of sibling modeling in explaining changes in Mexican-origin youths' deviant and sexual risk behaviors over time. The sample included 380 Mexican-origin siblings (older sibling age: M = 21.18, SD = 1.59; younger sibling age: M = 18.19, SD = .46) from (N = 190) families. Participants provided self-reports of their sibling relationship qualities, including modeling, as well as their engagement in deviant and sexual risk-taking behaviors in two home interviews across a 2-year span. A series of residualized regression models revealed that younger siblings' perceptions of modeling moderated the links between older siblings' deviant and sexual risk behaviors and younger siblings' subsequent behaviors in those same domains. Specifically, high levels of modeling predicted stronger associations between older siblings' earlier and younger siblings' later risk behaviors controlling for younger siblings' earlier behaviors as well as variables that have been used as proxies for social learning in previous research. Social learning mechanisms, especially modeling, are salient processes through which older siblings transmit norms and expectations regarding participation in health risk behaviors. Future research should continue to explore the ways in which siblings influence each other because such processes are emerging targets for intervention and prevention. Copyright © 2014 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

  11. The Type 1 Diabetes - HLA Susceptibility Interactome - Identification of HLA Genotype-Specific Disease Genes for Type 1 Diabetes

    DEFF Research Database (Denmark)

    Brorsson, C.; Hansen, Niclas Tue; Bergholdt, R.

    2010-01-01

    Background: The individual contribution of genes in the HLA region to the risk of developing type 1 diabetes (T1D) is confounded by the high linkage disequilibrium (LD) in this region. Using a novel approach we have combined genetic association data with information on functional protein......-protein interactions to elucidate risk independent of LD and to place the genetic association into a functional context. Methodology/Principal Findings: Genetic association data from 2300 single nucleotide polymorphisms (SNPs) in the HLA region was analysed in 2200 T1D family trios divided into six risk groups based...... on HLA-DRB1 genotypes. The best SNP signal in each gene was mapped to proteins in a human protein interaction network and their significance of clustering in functional network modules was evaluated. The significant network modules identified through this approach differed between the six HLA risk groups...

  12. Mediating Identity

    DEFF Research Database (Denmark)

    Kjærgaard, Annemette Leonhardt; Morsing, Mette; Ravasi, Davide

    2011-01-01

    This paper reports a longitudinal field study on the effects of positive media coverage on the reconstruction of organizational identity. The study highlights how intense positive coverage – to the point of turning an organization into a ‘celebrity’– influences both the way members understand...... their organization (sensemaking effect) and the gratification they derive from its positive representation (self-enhancement effect). Our findings suggest that positive media representations foster members' alignment around an emergent new understanding of what their organization is. Over time, however, celebrity...

  13. Unravelling identities

    OpenAIRE

    2007-01-01

    Abstract The decision to go to war by the government of the day is assumed to be a decision taken on behalf of all citizens of the nation, conceived as a collective united by a harmony of interests. Yet in the case of the Iraq War, there is clearly no unified voice of support from the British people. There is division between the state and its citizens, and the latter also reflect the multilayered identities of an increasingly multicultural society. How do individuals displaying mu...

  14. HLA alleles and HLA-B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population.

    Science.gov (United States)

    Pimentel-Santos, F M; Matos, M; Ligeiro, D; Mourão, A F; Ribeiro, C; Costa, J; Santos, H; Barcelos, A; Pinto, P; Cruz, M; Sousa, E; Santos, R A; Fonseca, J E; Trindade, H; Guedes-Pinto, H; Branco, J C

    2013-12-01

    Human leukocyte antigen (HLA)-B27 is the mostly known major histocompatibility complex (MHC) gene associated with ankylosing spondylitis (AS). Nonetheless, there is substantial evidence that other MHC genes appear to be associated with the disease, although it has not yet been established whether these associations are driven by direct associations or by linkage disequilibrium (LD) mechanisms. We aimed to investigate the contributions of HLA class I and II alleles and B27-haplotypes for AS in a case-control study. A total of 188 HLA-B27 AS cases and 189 HLA-B27 healthy controls were selected and typed for HLA class I and II by the Luminex polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. Allelic and haplotypic distributions were estimated by maximum likelihood method using Arlequin v3.11 and statistical analysis were performed by Stata10.1. No associations were found between non-HLA-B27 loci and AS susceptibility, but several associations were observed for phenotypic features of the disease. DRB1*08 was identified as a risk factor for uveitis and DQB1*04 seems to provide protection for AS severity (functional, metrological and radiological indexes). A*02/B27/C*02/DRB1*01/DQB1*05 [P<0.0001; odds ratio (OR) = 39.06; 95% confidence interval (CI) (2.34-651)] is the only haplotype that seems to confer susceptibility to AS. Moreover, the haplotype A*02/B27/C*01/DRB1*08/DQB1*04 seems to provide protection for disease functional and radiological repercussions. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 might play some role in AS susceptibility and severity. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. The role of older siblings in infant motor development.

    Science.gov (United States)

    Leonard, Hayley C; Hill, Elisabeth L

    2016-12-01

    Previous research has suggested that infant motor skills may be affected by older siblings but has not considered whether this is due to specific characteristics of the older sibling or of the quality of the sibling relationship. The current study used a longitudinal diary method to record infant motor milestones from 23 infants with older siblings along with parent reports and standardized assessments of motor skills. Parent reports of the older siblings' motor skills and the sibling relationship were also collected until the infants were 18months old. The motor skills, age, and sex of the older siblings were not significantly related to any measure of infant motor development. A significant correlation was revealed between perceived agonism between siblings and infant fine motor skills at 18months, suggesting the importance of considering reciprocal effects of motor development on sibling relationships. Overall, the suggestion that older siblings may provide a good model of motor skills for infants is not supported by the current data. In the future, it will be important to assess the dynamic interactions between different factors in predicting infant motor development, allowing early identification of motor difficulties, which could affect other areas of cognitive development and health. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Reducing sibling conflict in maltreated children placed in foster homes.

    Science.gov (United States)

    Linares, L Oriana; Jimenez, Jessica; Nesci, Cristina; Pearson, Eva; Beller, Sarah; Edwards, Nancy; Levin-Rector, Alison

    2015-02-01

    Sibling aggression among maltreated children placed in foster homes is linked to other externalizing problems and placement disruption. The reduction of sibling conflict and aggression may be achieved via a multicomponent ecologically focused intervention for families in the foster care system. The focus of the study is to evaluate the feasibility and short-term effectiveness of a transtheoretical intervention model targeting sibling pairs and their foster parent that integrates family systems, social learning theory, and a conflict mediation perspective. In this pilot study, sibling pairs (N = 22) and their foster parent were randomized into a three-component intervention (n = 13) or a comparison (n = 9) group. Promoting Sibling Bonds (PSB) is an 8-week prevention intervention targeting maltreated sibling pairs ages 5-11 years placed together in a foster home. The siblings, parent, and joint components were delivered in a program package at the foster agency by a trained two-clinician team. Average attendance across program components was 73 %. Outcomes in four areas were gathered at pre- and postintervention: observed sibling interaction quality (positive and negative) including conflict during play, and foster parent reports of mediation strategies and sibling aggression in the foster home. At postintervention, adjusting for baseline scores and child age, intervention pairs showed higher positive (p conflict during play (p conflict mediation strategies than those in the comparison group (p conflict and promote parental mediation, which together may reduce sibling aggression in the foster home.

  17. In patients older than 55 years with AML in first CR, should we search for a matched unrelated donor when an old sibling donor is available?

    DEFF Research Database (Denmark)

    Peffault de Latour, R; Labopin, M; Cornelissen, J

    2015-01-01

    Allogeneic hematopoietic transplantation is increasingly used in patients aged 55 years or more with AML. The question of whether outcomes can be improved with an allele-level 8/8 HLA-matched unrelated donor (MUD) rather than an older HLA-matched sibling (MSD, more than 55 years) is still...... unanswered. We thus analyzed outcomes in 714 patients aged 55 years and older with AML in first CR (CR1) who received PBSCs after a reduced-intensity conditioning hematopoietic cell transplant from a MUD (n=310) or a MSD (n=404) in a recent period (2005-2010). The 3-year cumulative incidences (CIs) of non......-relapse mortality were 17% and 23% with MSD and MUD, respectively (P=0.17). The 3-year CIs of relapse were 37% and 30%, respectively (P=0.12), resulting in a 3-year CI of leukemia-free survival of 46% and 47%, respectively (P=0.51). The 3-year overall survival was 49% with both MSD and MUD. In conclusion, HLA...

  18. Association of HLA genotypes with phenobarbital hypersensitivity in children.

    Science.gov (United States)

    Manuyakorn, Wiparat; Mahasirimongkol, Surakameth; Likkasittipan, Plernpit; Kamchaisatian, Wasu; Wattanapokayakit, Sukanya; Inunchot, Wimala; Visudtibhan, Anannit; Wichukchinda, Nuanjun; Benjaponpitak, Suwat

    2016-10-01

    Phenobarbital hypersensitivity is one of the common drug hypersensitivity syndromes in children. Clinical symptoms of phenobarbital hypersensitivity vary from maculopapular rashes (MPs) to severe cutaneous adverse drug reactions (SCARs) including drug reactions with eosinophilia and systemic symptoms (DRESS), Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN). Drug hypersensitivity has been demonstrated to be associated with variations in the HLA genotypes. This study was to investigate the association between the variations of HLA genotypes and phenobarbital hypersensitivity in Thai children. The cases were Thai children, between 0 and 18 years of age, who were diagnosed with phenobarbital hypersensitivity, which included SCARs and MPs. The control patients were Thai children of a corresponding age who had taken phenobarbital for at least 12 weeks without any hypersensitivity reaction. Blood samples were collected for HLA genotyping by using a reverse-sequence-specific oligonucleotide (SSO) probes method. The carrier rates of HLA alleles were compared between 47 cases (27 SCARs and 20 MPs) and 54 controls. The carrier rates of HLA-A*01:01 and HLA-B*13:01 were significantly higher in the phenobarbital-induced SCARs than in the tolerant controls (18.5% vs. 1.85%, p = 0.01, odds ratio [OR] 11.66, 95% confidence interval [CI] 1.21-578.19; 37.04% vs. 11.11%, p = 0.009, OR 4.60, 95%CI 1.29-17.98). There was a trend of a higher carrier rate of HLA-C*06:02 in the phenobarbital-induced SCARs when compared with those in the tolerant controls (29.63% vs. 11.11%, p = 0.059, OR 3.31, 95% CI 0.88-13.31). In contrast to the phenobarbital-induced SCARs, only the HLA-A*01:01 carrier rate in the phenobarbital-induced MPs was significantly higher than those in the tolerant controls (20% vs. 1.85%, p = 0.017, OR 12.69, 95% CI 1.15-661.62). An association between phenobarbital hypersensitivity and HLA-A*01:01 and HLA-B*13:01 has been demonstrated in Thai children

  19. Characterization of a novel HLA-B*39:01:01-related allele, HLA-B*39:130, by cloning and phasing.

    Science.gov (United States)

    Li, L X; Tian, W; Zhu, F M; Wang, W Y; Cai, J H

    2017-12-01

    A novel HLA-B*39:01:01-related variant, HLA-B*39:130, has been identified in a normal individual of Han ethnicity in Hunan province, southern China. Following Sanger polymerase chain reaction-sequence-based typing (PCR-SBT), this new allele was further confirmed by cloning, phasing and sequencing. Aligned with HLA-B*39:01:01, HLA-B*39:130 has a nonsynonymous thymine substitution at nucleotide position 94 in exon 4, resulting in amino acid change from threonine to isoleucine at codon 214 (ACA→ATA) of the mature HLA-BmRNA molecule. © 2017 John Wiley & Sons Ltd.

  20. Polymorphism in the 5' upstream regulatory and 3' untranslated regions of the HLA-G gene in relation to soluble HLA-G and IL-10 expression

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F; Rizzo, Roberta; Melchiorri, Loredana

    2006-01-01

    The nonclassical human leukocyte antigen (HLA) class Ib gene HLA-G may be important for the induction and maintenance of immune tolerance between the mother and the semi-allogeneic fetus during pregnancy. Expression of HLA-G can influence cytokine and cytotoxic T-lymphocyte responses. Different HLA......-G peripheral blood mononuclear cells after lipopolysaccharide (LPS) stimulation. This study finds that polymorphism in the 5' upstream regulatory region (5'URR) of the HLA-G gene may also be implicated in differences in IL-10 secretion. However, this may also be due to linkage disequilibrium with the 14-bp...

  1. Perceptions of emotion expression and sibling-parent emotion communication in Latino and non-Latino white siblings of children with intellectual disabilities.

    Science.gov (United States)

    Long, Kristin A; Lobato, Debra; Kao, Barbara; Plante, Wendy; Grullón, Edicta; Cheas, Lydia; Houck, Christopher; Seifer, Ronald

    2013-06-01

    Examine general emotion expression and sibling-parent emotion communication among Latino and non-Latino white (NLW) siblings of children with intellectual disabilities (ID) and matched comparisons. 200 siblings (ages 8-15 years) completed the newly developed Sibling-Parent Emotion Communication Scale and existing measures of general emotion expression and psychosocial functioning. Preliminary analyses evaluated scale psychometrics across ethnicity. Structure and internal consistency of the emotion expression and communication measures differed by respondent ethnicity. Latino siblings endorsed more general emotion expression problems and marginally lower sibling-parent emotion communication than NLW siblings. Siblings of children with ID reported marginally more general emotion expression problems than comparisons. Emotion expression problems and lower sibling-parent emotion communication predicted more internalizing and somatic symptoms and poorer personal adjustment, regardless of ID status. Siblings of children with ID endorsed poorer personal adjustment. Cultural differences in emotion expression and communication may increase Latino siblings' risk for emotional adjustment difficulties.

  2. Only full-sibling families evolved eusociality

    DEFF Research Database (Denmark)

    Boomsma, Jacobus J; Beekman, Madeleine; Cornwallis, Charlie K

    2011-01-01

    Arising from M. A. Nowak, C. E. Tarnita & E. O. Wilson 466, 1057-1062 (2010); Nowak et al. reply. The paper by Nowak et al. has the evolution of eusociality as its title, but it is mostly about something else. It argues against inclusive fitness theory and offers an alternative modelling approach...... that is claimed to be more fundamental and general, but which, we believe, has no practical biological meaning for the evolution of eusociality. Nowak et al. overlook the robust empirical observation that eusociality has only arisen in clades where mothers are associated with their full-sibling offspring; that is......, in families where the average relatedness of offspring to siblings is as high as to their own offspring, independent of population structure or ploidy. We believe that this omission makes the paper largely irrelevant for understanding the evolution of eusociality....

  3. Relationship of Sibling Structure and Interaction to Categorization Ability. Final Report.

    Science.gov (United States)

    Cicirelli, Victor G.; And Others

    This study identified behaviors of sibling pairs interacting on a cognitive task and related these behaviors to sibling structure variables (age and sex of each sibling and age spacing between them) and to measure of cognitive abilities of the younger sibling. Subjects were 160 sibling pairs randomly selected from appropriate subpopulations of…

  4. Sibling Relationships and Adolescents' Mental Health: The Interrelationship of Structure and Quality

    Science.gov (United States)

    Yuan, Anastasia S. Vogt

    2009-01-01

    Although sibling structure influences some aspects of adolescents' well-being, including deviance and educational achievement, little research has explored the association between sibling structure and adolescents' mental health. This study explores how sibling structure (the number of siblings, full versus step- or half-siblings, the relative age…

  5. The Impact of Sibling Warmth and Conflict on Children's Social Competence with Peers.

    Science.gov (United States)

    Lockwood, Rebecca L.; Kitzmann, Katherine M.; Cohen, Robert

    2001-01-01

    Examined links between children's sibling and peer relationships. Found that sibling warmth was associated with more positive peer relations; sibling conflict was associated with both positive and negative peer outcomes, independent of sibling warmth; and sibling relationships were not more strongly associated with measures of friendships quality…

  6. Adult Female and Male Siblings of Persons with Disabilities: Findings from a National Survey

    Science.gov (United States)

    Hodapp, Robert M.; Urbano, Richard C.; Burke, Meghan M.

    2010-01-01

    In this study, the authors used a national, Web-based survey to examine female and male siblings of individuals with disabilities. More than 1,160 adult siblings completed a 163-question survey about themselves, their siblings, and their sibling relationships. Most respondents reported fairly close contact with their siblings and positive sibling…

  7. Accommodative spasm in siblings: A unique finding

    Directory of Open Access Journals (Sweden)

    Rutstein Robert

    2010-01-01

    Full Text Available Accommodative spasm is a rare condition occurring in children, adolescents, and young adults. A familial tendency for this binocular vision disorder has not been reported. I describe accommodative spasm occurring in a brother and sister. Both children presented on the same day with complaints of headaches and blurred vision. Treatment included cycloplegia drops and bifocals. Siblings of patients having accommodative spasm should receive a detailed eye exam with emphasis on recognition of accommodative spasm.

  8. Accommodative spasm in siblings: A unique finding

    Science.gov (United States)

    Rutstein, Robert P

    2010-01-01

    Accommodative spasm is a rare condition occurring in children, adolescents, and young adults. A familial tendency for this binocular vision disorder has not been reported. I describe accommodative spasm occurring in a brother and sister. Both children presented on the same day with complaints of headaches and blurred vision. Treatment included cycloplegia drops and bifocals. Siblings of patients having accommodative spasm should receive a detailed eye exam with emphasis on recognition of accommodative spasm. PMID:20534925

  9. Should Selecting Saviour Siblings be Banned?

    OpenAIRE

    Sheldon, Sally; Wilkinson, Stephen

    2004-01-01

    By using tissue typing in conjunction with preimplantation genetic diagnosis doctors are able to pick a human embryo for implantation which, if all goes well, will become a "saviour sibling", a brother or sister capable of donating life-saving tissue to an existing child. \\ud \\ud This paper addresses the question of whether this form of selection should be banned and concludes that it should not. Three main prohibitionist arguments are considered and found wanting: (a) the claim that saviour ...

  10. Self-reported behaviour problems and sibling relationship quality by siblings of children with autism spectrum disorder.

    Science.gov (United States)

    Hastings, R P; Petalas, M A

    2014-11-01

    There are few published research studies in which siblings of children with autism spectrum disorder (ASD) provide self-reports about their own behavioural and emotional problems and their sibling relationships. Reliance on parent reports may lead to incomplete conclusions about the experiences of siblings themselves. Siblings 7-17 years and their mothers from 94 families of children with ASD were recruited. Mothers reported on family demographics, the behavioural and emotional problems of their child with ASD, and on their own symptoms of depression. Siblings reported on their relationship with their brother or sister with ASD, and siblings 11+ years of age also self-reported on their behavioural and emotional problems. Compared with normative British data, siblings reported very slightly elevated levels of behavioural and emotional problems. However, none of the mean differences were statistically significant and all group differences were associated with small or very small effect sizes - the largest being for peer problems (effect size = 0.31). Regression analysis was used to explore family systems relationships, with sibling self-reports predicted by the behaviour problems scores for the child with ASD and by maternal depression. Maternal depression did not emerge as a predictor of siblings' self-reported sibling relationships or their behavioural and emotional problems. Higher levels of behaviour problems in the child with ASD predicted decreased warmth/closeness and increased conflict in the sibling relationship. These data support the general findings of recent research in that there was little indication of clinically meaningful elevations in behavioural and emotional problems in siblings of children with ASD. Although further research replication is required, there was some indication that sibling relationships may be at risk where the child with ASD has significant behaviour problems. © 2014 John Wiley & Sons Ltd.

  11. 'Adoption' by maternal siblings in wild chimpanzees.

    Directory of Open Access Journals (Sweden)

    Catherine Hobaiter

    Full Text Available The adoption of unrelated orphaned infants is something chimpanzees and humans have in common. Providing parental care has fitness implications for both the adopter and orphan, and cases of adoption have thus been cited as evidence for a shared origin of an altruistic behaviour. We provide new data on adoptions in the free-living Sonso chimpanzee community in Uganda, together with an analysis of published data from other long-term field sites. As a default pattern, we find that orphan chimpanzees do not become adopted by adult group members but wherever possible associate with each other, usually as maternal sibling pairs. This occurs even if both partners are still immature, with older individuals effectively becoming 'child household heads'. Adoption of orphans by unrelated individuals does occur but usually only if no maternal siblings or other relatives are present and only after significant delays. In conclusion, following the loss of their mother, orphaned chimpanzees preferentially associate along pre-existing social bonds, which are typically strongest amongst maternal siblings.

  12. Soluble HLA-G and HLA-E Levels in Bone Marrow Plasma Samples Are Related to Disease Stage in Neuroblastoma Patients

    Directory of Open Access Journals (Sweden)

    Fabio Morandi

    2016-01-01

    Full Text Available The role of nonclassical HLA-class Ib molecules HLA-G and HLA-E in the progression of Neuroblastoma (NB, the most common pediatric extracranial solid tumor, has been characterized in the last years. Since BM infiltration by NB cells is an adverse prognostic factor, we have here analyzed for the first time the concentration of soluble (sHLA-G and HLA-E in bone marrow (BM plasma samples from NB patients at diagnosis and healthy donors. sHLA-G and sHLA-E are present in BM plasma samples, and their levels were similar between NB patients and controls, thus suggesting that these molecules are physiologically released by resident or stromal BM cell populations. This hypothesis was supported by the finding that sHLA-G and sHLA-E levels did not correlate with BM infiltration and other adverse prognostic factors (MYCN amplification and age at diagnosis. In contrast, BM plasma levels of both molecules were higher in patients with metastatic disease than in patients with localized NB, thus suggesting that concentration of these molecules might be correlated with disease progression. The prognostic role of sHLA-G and sHLA-E concentration in the BM plasma for NB patients will be evaluated in future studies, by analyzing the clinical outcome of the same NB patients at follow-up.

  13. Linkage disequilibrium between human leukocyte antigen (HLA) class II and HLA-G--possible implications for human reproduction and autoimmune disease

    DEFF Research Database (Denmark)

    Hviid, Thomas Vauvert F; Christiansen, Ole B

    2005-01-01

    ). We found a significant linkage disequilibrium between HLA-DR3 and HLA-G*010102 in both the RSA and control populations. For all four studied HLA loci, the alleles in the haplotype HLA-DRB1*03.DQA1*05.DQB1*02.G*010102 was in clear linkage disequilibrium. This HLA haplotype has repeatedly been...... associated with different autoimmune diseases but also with RSA. The G*010102 allele includes a 14-bp sequence polymorphism in the 3' untranslated region of the gene, which has been associated with differences in HLA-G mRNA alternative splicing and stability. This 14-bp polymorphism has also been associated...... with RSA, pre-eclampsia, and outcome of in vitro fertilization. Implications of HLA polymorphism--and other polymorphic genes in the MHC for pregnancy outcome--and for autoimmune diseases during pregnancy are discussed....

  14. Platelet transfusion refractoriness attributable to HLA antibodies produced by donor-derived cells after allogeneic bone marrow transplantation from one HLA-antigen-mismatched mother.

    Science.gov (United States)

    Hatakeyama, Naoki; Hori, Tsukasa; Yamamoto, Masaki; Inazawa, Natsuko; Iesato, Kotoe; Miyazaki, Toru; Ikeda, Hisami; Tsutsumi, Hiroyuki; Suzuki, Nobuhiro

    2011-12-01

    PTR is a serious problem in patients being treated for hematologic disorders. Two patients with acute leukemia developed PTR after allogeneic BMT from one HLA-antigen-mismatched mother attributable to HLA antibodies, which could not be detected in their serum before BMT. HLA antibodies, whose specificity resembled that of each patient, were detected in each donor's serum. Each donor had probably been immunized during pregnancy by their partner's HLA antigens expressed by the fetus, consequently, transplanted donor-derived cells provoked HLA antibodies in each recipient early after BMT, and those HLA antibodies induced PTR. If the mothers are selected as donors for their children, they should be tested for the presence of HLA antibodies. © 2010 John Wiley & Sons A/S.

  15. HLA polymorphisms in Sindhi community in Mumbai, India.

    Science.gov (United States)

    Chhaya, S; Desai, S; Saranath, D

    2010-10-01

    Indian population is an amalgamation of various ethnicities, cultural and linguistic diversities, primarily due to marriages within a community. HLA-A, B and DRB1 alleles and haplotype frequencies were investigated in the Sindhi and compared with Marathi, Gujarati and North Indian population from Mumbai. This work is a part of a larger effort aimed at analysis of the HLA profile of diverse Indian ethnics to establish an umbilical cord stem cell panel in India. HLA polymorphisms at the HLA-A, B and DRB1 loci were determined in 413 cord blood samples by the molecular method of polymerase chain reaction using sequence-specific primer amplification. The most frequent alleles included A*01, A*02, A*11 and A*24 at A locus, B*35 and B*40 at B locus and DRB1*07 and DRB1*15 in all the four groups, although the frequency fluctuated in individual communities. HLA-DRB1*03 was significantly high (P < 0.05) in the Sindhi. Phylogenetic association using neighbour-joining tree, based on DA genetic distances for HLA-A and HLA-B alleles, indicated that the Sindhis cluster with North Indian and Pakistan Sindhi. The three locus haplotype analysis revealed that A*02-B*40-DRB1*15 and A*33-B*44-DRB1*07 were common haplotypes in all the groups. The three locus haplotypes found suggest an influence from Caucasian and Oriental populations. The data will be useful in developing an umbilical cord stem cell panel in India. The results will have clinical implications in unrelated umbilical cord stem cell for transplantation in India. © 2010 Blackwell Publishing Ltd.

  16. Relationship between siblings and psychological adjustment in adolescents:

    Directory of Open Access Journals (Sweden)

    Karen Ripoll

    2009-10-01

    Full Text Available This study evaluated the effect of parent-child relationship quality (acceptance and differential treatment over dimensions of the quality of sibling relationships (warmth and conflict and psychological adjustment in 69 adolescent sibling dyads. The effects of parent-child relationships were evaluated both at the individual and dyadic levels. In older siblings, the father-child relationship had a significant effect on both their perception of warmth in the sibling relationship and psychological adjustment. In younger siblings, there was a significant dyadic effect of the older sibling’s perceived acceptance by mother on their perception of warmth in the sibling relationship. Results are analyzed based on the literature and questions for future research are proposed.

  17. Perceptions of sibling relationships during middle childhood and adolescence.

    Science.gov (United States)

    Buhrmester, D; Furman, W

    1990-10-01

    Children in grades 3, 6, 9, and 12 were administered the Sibling Relationship Questionnaire. Relationships were rated as progressively more egalitarian across the 4 grade groups, with adolescents reporting less dominance and nurturance by their older siblings than younger participants. Adolescents also reported less companionship, intimacy, and affection with siblings than younger participants reported. Levels of perceived conflict with younger siblings were moderately high across all 4 grades, whereas ratings of conflict with older siblings were progressively lower across the 4 grades. The findings suggested that sibling relationships: (a) become more egalitarian and less asymmetrical with age, (b) become less intense with age, and (c) encompass experiences that are partially determined by the child's standing in the family constellation.

  18. Sibling genes as environment: Sibling dopamine genotypes and adolescent health support frequency dependent selection.

    Science.gov (United States)

    Rauscher, Emily; Conley, Dalton; Siegal, Mark L

    2015-11-01

    While research consistently suggests siblings matter for individual outcomes, it remains unclear why. At the same time, studies of genetic effects on health typically correlate variants of a gene with the average level of behavioral or health measures, ignoring more complicated genetic dynamics. Using National Longitudinal Study of Adolescent Health data, we investigate whether sibling genes moderate individual genetic expression. We compare twin variation in health-related absences and self-rated health by genetic differences at three locations related to dopamine regulation and transport to test sibship-level cross-person gene-gene interactions. Results suggest effects of variation at these genetic locations are moderated by sibling genes. Although the mechanism remains unclear, this evidence is consistent with frequency dependent selection and suggests much genetic research may violate the stable unit treatment value assumption. Copyright © 2015 Elsevier Inc. All rights reserved.

  19. Unraveling a Hotspot for TCR Recognition on HLA-A2: Evidence Against the Existence of Peptide-independent TCR Binding Determinants

    International Nuclear Information System (INIS)

    Gagnon, Susan J.; Borbulevych, Oleg Y.; Davis-Harrison, Rebecca L.; Baxter, Tiffany K.; Clemens, John R.; Armstrong, Kathryn M.; Turner, Richard V.; Damirjian, Marale; Biddison, William E.; Baker, Brian M.

    2005-01-01

    T cell receptor (TCR) recognition of peptide takes place in the context of the major histocompatibility complex (MHC) molecule, which accounts for approximately two-thirds of the peptide/MHC buried surface. Using the class I MHC HLA-A2 and a large panel of mutants, we have previously shown that surface mutations that disrupt TCR recognition vary with the identity of the peptide. The single exception is Lys66 on the HLA-A2 α1 helix, which when mutated to alanine disrupts recognition for 93% of over 250 different T cell clones or lines, independent of which peptide is bound. Thus, Lys66 could serve as a peptide-independent TCR binding determinant. Here, we have examined the role of Lys66 in TCR recognition of HLA-A2 in detail. The structure of a peptide/HLA-A2 molecule with the K66A mutation indicates that although the mutation induces no major structural changes, it results in the exposure of a negatively charged glutamate (Glu63) underneath Lys66. Concurrent replacement of Glu63 with glutamine restores TCR binding and function for T cells specific for five different peptides presented by HLA-A2. Thus, the positive charge on Lys66 does not serve to guide all TCRs onto the HLA-A2 molecule in a manner required for productive signaling. Furthermore, electrostatic calculations indicate that Lys66 does not contribute to the stability of two TCR-peptide/HLA-A2 complexes. Our findings are consistent with the notion that each TCR arrives at a unique solution of how to bind a peptide/MHC, most strongly influenced by the chemical and structural features of the bound peptide. This would not rule out an intrinsic affinity of TCRs for MHC molecules achieved through multiple weak interactions, but for HLA-A2 the collective mutational data place limits on the role of any single MHC amino acid side-chain in driving TCR binding in a peptide-independent fashion.

  20. Reducing Sibling Conflict in Maltreated Children Placed in Foster Homes

    Science.gov (United States)

    Linares, L. Oriana; Jimenez, Jessica; Nesci, Cristina; Pearson, Eva; Beller, Sarah; Edwards, Nancy; Levin-Rector, Alison

    2016-01-01

    Sibling aggression among maltreated children placed in foster homes is linked to other externalizing problems and placement disruption. The reduction of sibling conflict and aggression may be achieved via a multicomponent ecologically focused intervention for families in the foster care system. The focus of the study is to evaluate the feasibility and short-term effectiveness of a transtheoretical intervention model targeting sibling pairs and their foster parent that integrates family systems, social learning theory, and a conflict mediation perspective. In this pilot study, sibling pairs (N=22) and their foster parent were randomized into a three-component intervention (n=13) or a comparison (n=9) group. Promoting Sibling Bonds (PSB) is an 8-week prevention intervention targeting maltreated sibling pairs ages 5–11 years placed together in a foster home. The Siblings, Parent, and Joint components were delivered in a program package at the foster agency by a trained two-clinician team. Average attendance across program components was 73%. Outcomes in four areas were gathered at pre-and post-intervention: observed sibling interaction quality (positive and negative) including conflict during play, and foster parent reports of mediation strategies and sibling aggression in the foster home. At post-intervention, adjusting for baseline scores and child age, intervention pairs showed higher positive (p<.001) and negative (p<.05) interaction quality, and lower sibling conflict during play (p <.01) than comparison pairs. Foster parents in the intervention group reported a higher number of conflict mediation strategies than those in the comparison group (p <.001). Foster parents in the intervention group reported lower sibling physical aggression from the older toward the younger child than those in the comparison group (p <.05). Data suggest that the PSB intervention is a promising approach to reduce conflict and promote parental mediation which together may reduce

  1. Pretense of parentage by siblings in immigration: Polesky's paradox reconsidered.

    Science.gov (United States)

    Wenk, Robert E; Shao, Alison

    2014-02-01

    Older and younger siblings occasionally attempt to impersonate parent and child to expedite immigration under US family-based visa policies. The rate with which full siblings escape detection by current relationship tests is unknown. Retrospective study of full-sibling immigrant pairs was undertaken to determine the proportion that show insufficient genetic evidence to exclude parentage. Sibship and parentage indices (SI and PI) were compared/case in unexcluded sibling cases and true parent-child cases. Alleles shared per short-tandem-repeat locus were compared in sibling and parent-child pairs. The proportion of successful parentage fraud by siblings was estimated from the parentage exclusion rate among immigrants and the proportion of sibships without genetic inconsistencies (GIs). When 11 to 25 independent loci were tested per two-sibling case to verify or refute parentage, tests failed to demonstrate any GI in 9% and PI was greater than SI in seven of 10 of these cases. Another 29% of full-sibling pairs demonstrated insufficient evidence (fewer than two GIs) to exclude parentage. Thus, 0.4% of sibling pairs could falsely claim a parent-child relationship and show no GIs. Another 1.4% could make that false claim and not present sufficient evidence to be excluded. At present, with no evidence of parentage exclusion in a full-sibling pair, the relative magnitudes of PI and SI are misleading relationship indicators because too few loci are examined and rates of sharing one and two alleles/locus vary greatly in parentage and sibling pairs. Only evidence of exclusion ascertains false parentage claims by siblings. Nevertheless, the expected rate of successful fraud is quite low. © 2013 American Association of Blood Banks.

  2. Adolescents' Social Skills in Friendship : The influence of sibling relationship

    OpenAIRE

    藤田, 文; Aya, Fujita

    1998-01-01

    The purpose of this study was to investigate the influence of the sibling relationship on the adolescents' social skills in friendship. One hundred and seventy-seven undergraduate students were asked to complete a questionnaire regarding their sibling relationship and their social skills in friendship. Their sibling relationship was categorized eight types; close, intimate, hostile, dominate, intimate-hostile, intimate-dominate, hostile-dominate, separate. The result showed that the students ...

  3. Sibling Rivalry in Educational Attainment: The German Case

    OpenAIRE

    Ira N. Gang; Thomas Bauer

    2000-01-01

    Recent studies exploring sibling rivalry in the allocation of household resources in the U.S. produce conflicting results. We contribute to this discussion by addressing the role of sibling rivalry in educational attainment in Germany. Using the German Socioeconomic Panel (GSOEP) we are able to distinguish how the effects of sibling rivalry vary by cultural affiliation, i.e., among families of West German, East German and foreign origin. We also point out and correct for a reference group pro...

  4. Appetite and growth: a longitudinal sibling analysis.

    Science.gov (United States)

    van Jaarsveld, Cornelia H M; Boniface, David; Llewellyn, Clare H; Wardle, Jane

    2014-04-01

    Identifying early markers of future obesity risk can help target preventive interventions. Several studies have shown that a heartier appetite in infancy is a risk factor for more rapid weight gain, but to date no investigations have been able to rule out familial confounding. To use a sibling design (data from same-sex, dizygotic twin pairs) to test the hypothesis that sibling differences in infant appetite predicted differential weight gain during childhood. Gemini is a population-based twin cohort among the general United Kingdom population born between March 1, 2007, and December 15, 2007. Growth trajectories were analyzed from birth to age 15 months. Appetite-discordant pairs were selected from 800 nonidentical, same-sex twin pairs. Appetite during the first 3 months of life was assessed with the food responsiveness (FR) and satiety responsiveness (SR) subscales from the Baby Eating Behaviour Questionnaire. Discordance was defined as a within-pair difference of at least 1 SD. A mean of 11.5 weight measurements per child were available between birth and age 15 months. Multilevel models, adjusted for sex and birth weight, compared growth curves for the higher-appetite vs lower-appetite twins. In total, 172 pairs were discordant for SR and 121 pairs for FR. Within-pair analyses showed that those with higher FR and those with lower SR grew faster than their sibling. At age 6 months, those with higher FR were 654 (95% CI, 395-913) g heavier and at age 15 months were 991 (95% CI, 484-1498) g heavier. For sibling pairs discordant for SR, the weight differences between siblings were 637 (95% CI, 438-836) g at age 6 months and 918 (95% CI, 569-1267) g at age 15 months. A heartier appetite (indexed with higher FR or lower SR) in early infancy is prospectively associated with more rapid growth up to age 15 months in a design controlling for potential familial confounding, supporting a causal role for appetite in childhood weight gain. Appetite could be an early marker

  5. Federated Identity Management

    OpenAIRE

    Chadwick, David W.

    2009-01-01

    Abstract. This paper addresses the topic of federated identity management. It discusses in detail the following topics: what is digital identity, what is identity management, what is federated identity management, Kim Camerons 7 Laws of Identity, how can we protect the users privacy in a federated environment, levels of assurance, some past and present federated identity management systems, and some current research in FIM.

  6. Genetic and environmental etiologies of reading difficulties: DeFries-Fulker analysis of reading performance data from twin pairs and their nontwin siblings

    OpenAIRE

    Astrom, Raven L.; Wadsworth, Sally J.; Olson, Richard K.; Willcutt, Erik G.; DeFries, John C.

    2012-01-01

    Reading performance data from 254 pairs of identical (MZ) and 420 pairs of fraternal (DZ) twins, 8.0 to 20.0 years of age, were subjected to multiple regression analyses. An extension of the DeFries-Fulker (DF) analysis (DeFries & Fulker, 1985, 1988) that facilitated inclusion of data from 303 of their nontwin siblings was employed. In addition to providing estimates of heritability, this analysis yields a test of the difference between shared environmental influences for twins versus sibling...

  7. Contrasting roles of interallelic recombination at the HLA-A and HLA-B loci

    Energy Technology Data Exchange (ETDEWEB)

    Hughes, A.L.; Hughes, M.K. (Pennsylvania State Univ., University Park (United States)); Watkins, D.I. (Univ. of Wisconsin, Madison (United States))

    1993-03-01

    A statistical study of DNA sequences of alleles at the highly polymorphic class I MHC loci of humans, HLA-A and HLA-B, showed evidence of both large-scale recombination events(involving recombination of exons 1-2 of one allele with exons 3-8 of another) and small scale recombination events (involving apparent exchange of short DNA segments). The latter events occurred disproportionately in the region of the gene encoding the antigen recognition site (ARS) of the class I molecule. Furthermore, they involved the ARS codons which are under the strongest selection favoring allelic diversity at the amino acid level. Thus, the frequency of recombinant alleles appears to have been increased by some form of balancing selection (such as overdominant selection) favoring heterozygosity in the ARS. These analyses also revealed a striking difference between the A and B loci. Recombination events appear to have occurred about twice as frequently at the B locus, and recombinants at the B locus were significantly more likely to affect polymorphic sites in the ARS. At the A locus, there are well-defined allelic lineages that have persisted since prior to the human-chimpanzee divergence; but at the B locus, there is no evidence for such long-lasting allelic lineages. Thus, relatively frequent interallelic recombination has apparently been a feature of the long-term evolution of the B locus but not of the A locus. 45 refs., 4 figs., 5 tabs.

  8. Impact of childhood chronic illnesses on siblings: a literature review.

    LENUS (Irish Health Repository)

    O' Brien, Irene

    2012-02-01

    BACKGROUND: Childhood illness can have a significant impact on families, particularly on the ill child\\'s siblings. There is a dearth of published literature focusing on the needs of siblings of ill children. AIM: This literature review aims to provide an overview of the current healthcare literature in relation to the impact of childhood chronic illness or disability on siblings. METHOD: A literature review was undertaken by searching the databases CINAHL, PsycINFO, ProQuest and Cochrane Library for relevant articles in English using the search terms: \\'siblings\\

  9. Cancer risk in siblings of children with congenital malformations

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chunsen; Arah, Onyebuchi A

    2016-01-01

    PURPOSE: Cancer and birth defects cluster in families more often than expected by chance, but the reasons are neither well known nor well studied. METHODS: From singletons born alive in Denmark between 1 January 1977 and 31 December 2007, we identified children who had no congenital malformations...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...

  10. Comparing HLA shared epitopes in French Caucasian patients with scleroderma.

    Directory of Open Access Journals (Sweden)

    Doua F Azzouz

    Full Text Available Although many studies have analyzed HLA allele frequencies in several ethnic groups in patients with scleroderma (SSc, none has been done in French Caucasian patients and none has evaluated which one of the common amino acid sequences, (67FLEDR(71, shared by HLA-DRB susceptibility alleles, or (71TRAELDT(77, shared by HLA-DQB1 susceptibility alleles in SSc, was the most important to develop the disease. HLA-DRB and DQB typing was performed for a total of 468 healthy controls and 282 patients with SSc allowing FLEDR and TRAELDT analyses. Results were stratified according to patient's clinical subtypes and autoantibody status. Moreover, standardized HLA-DRß1 and DRß5 reverse transcriptase Taqman PCR assays were developed to quantify ß1 and ß5 mRNA in 20 subjects with HLA-DRB1*15 and/or DRB1*11 haplotypes. FLEDR motif is highly associated with diffuse SSc (χ(2 = 28.4, p<10-6 and with anti-topoisomerase antibody (ATA production (χ(2 = 43.9, p<10-9 whereas TRAELDT association is weaker in both subgroups (χ(2 = 7.2, p = 0.027 and χ(2 = 14.6, p = 0.0007 respectively. Moreover, FLEDR motif- association among patients with diffuse SSc remains significant only in ATA subgroup. The risk to develop ATA positive SSc is higher with double dose FLEDR than single dose with respectively, adjusted standardised residuals of 5.1 and 2.6. The increase in FLEDR motif is mostly due to the higher frequency of HLA-DRB1*11 and DRB1*15 haplotypes. Furthermore, FLEDR is always carried by the most abundantly expressed ß chain: ß1 in HLA DRB1*11 haplotypes and ß5 in HLA-DRB1*15 haplotypes.In French Caucasian patients with SSc, FLEDR is the main presenting motif influencing ATA production in dcSSc. These results open a new field of potential therapeutic applications to interact with the FLEDR peptide binding groove and prevent ATA production, a hallmark of severity in SSc.

  11. HLA-B51 IN BEHÇET’S DISEASE

    Directory of Open Access Journals (Sweden)

    F Davatchi

    2008-12-01

    Full Text Available "nThere is some data in the literature on the association of HLA-B5 and some manifestations of Behçet's disease (BD, especially ocular lesions. We studied 433 patients to see if there was any relationship between B51 and the manifestations of the disease. Clinical manifestations of BD were compared in patients having HLA-B51 (155 patients and those lacking HLA-B51 (278 patients. Oral aphthosis, genital aphthosis, skin manifestations, joint manifestations, gastrointestinal manifestations, phlebitis and neurological manifestations showed no significant difference in patients with and without HLA-B51. Ophthalmologic manifestations were seen in 52% of patients having B51 and in 42% of patients lacking it (χ2: 4.451, P = 0.035. Considering different lesions of ocular manifestations separately, no significant difference was found regarding the presence or absence of B51. Pathergy phenomenon was detected in 55% of B51 positive patients and in 45% of B51 negative patients (χ2: 4.111, P = 0.043. It seems that HLA-B51 may play a role in the pathogenesis of Behçet's disease, but cannot be used as predictive value for the occurrence of organ involvement, except for the eye.

  12. Clinical Relevance of HLA Gene Variants in HBV Infection

    Directory of Open Access Journals (Sweden)

    Li Wang

    2016-01-01

    Full Text Available Host gene variants may influence the natural history of hepatitis B virus (HBV infection. The human leukocyte antigen (HLA system, the major histocompatibility complex (MHC in humans, is one of the most important host factors that are correlated with the clinical course of HBV infection. Genome-wide association studies (GWASs have shown that single nucleotide polymorphisms (SNPs near certain HLA gene loci are strongly associated with not only persistent HBV infection but also spontaneous HBV clearance and seroconversion, disease progression, and the development of liver cirrhosis and HBV-related hepatocellular carcinoma (HCC in chronic hepatitis B (CHB. These variations also influence the efficacy of interferon (IFN and nucleot(side analogue (NA treatment and response to HBV vaccines. Meanwhile, discrepant conclusions were reached with different patient cohorts. It is therefore essential to identify the associations of specific HLA allele variants with disease progression and viral clearance in chronic HBV infection among different ethnic populations. A better understanding of HLA polymorphism relevance in HBV infection outcome would enable us to elucidate the roles of HLA SNPs in the pathogenesis and clearance of HBV in different areas and ethnic groups, to improve strategies for the prevention and treatment of chronic HBV infection.

  13. IDENTIFIKASI TIPE HLA KELAS II DENGAN TEKNIK PCR

    Directory of Open Access Journals (Sweden)

    Ervi Salwati

    2012-09-01

    Full Text Available HLA (Human Leukocyte Antigen contains a set of genes located together on the short arm of chromosome 6. These genes control immune responses, graft acceptance or rejection and tumor surveillance. These abilities have close relationship with genetic variation (occur in "many forms" or alleles that bind and present antigens to T lymphocytes. Using advanced technology and molecular biology approaches (PCR technique detection of genetic variation in the HLA region (or HLA typing has been performed based on DNA.. PCR is an in vitro technique to amplify the DNA sequence enzymatically. "Sequence Specific Primers" (SSP are designed for this PCR to obtain amplification of specific alleles or groups of alleles. The PCR products are visualized through agarose gel electrophoresis stained with ethidium bromide. The PCR technique requires small amount of whole blood (0.5 - 1 ml, gives rapid, accurate and complete result. This paper discuss identification of HLA class II typing using PCR-SSP technique and show the examples of the results.   Key words: HLA (Human Leukocyte Antigen class II, PCR (Polymerase Chain Reaction

  14. HLA in anthropology: the enigma of Easter Island.

    Science.gov (United States)

    Sanchez-Mazas, Alicia; Thorsby, Erik

    2013-01-01

    In this article, we first present four significant cases where human leukocyte antigen (HLA) studies have been useful for the reconstruction of human peopling history on the worldwide scale; i.e., the spread of modern humans from East Africa, the colonization of East Asia along two geographic routes, the co-evolution of genes and languages in Africa, and the peopling of Europe through a main northward migration. These examples show that natural selection did not erase the genetic signatures of our past migrations in the HLA genetic diversity patterns observed today. In the second part, we summarize our studies on Easter Island. Using genomic HLA typing, we could trace an introduction of HLA alleles of native American (Amerindian) origin to Easter Island before the Peruvian slave trades; i.e., before the 1860s, and provide suggestive evidence that they may have already been introduced in prehistoric time. Our results give further support to an initial Polynesian population of the island, but also reveal an early contribution by Amerindians. Together, our data illustrate the usefulness of typing for HLA alleles to complement genetic analyses in anthropological investigations.

  15. Origin of Azeris (Iran) according to HLA genes | Arnaiz-Villena ...

    African Journals Online (AJOL)

    Mediterranean, Central Asian and Caucasus extended HLA haplotypes were found, ... profile, and Gorgan (Turkmen) who have shown a closer Central Asia profile, ... Keywords: HLA, Pharmacogenomics, Disease, Transplantation, Iran, Irak, ...

  16. Identical and shifted identical bands

    International Nuclear Information System (INIS)

    Dodder, R.S; Jones, E.F.; Hamilton, J.H.

    1997-01-01

    Spontaneous fission of 252 Cm was studied with 72 large Compton suppressed Ge detectors in Gamma sphere. New isotopes 160 Sm and 162 Gd were identified. Through X-ray-γ and γ-γ-γ) coincidence measurements, level energies were established to spins 14 + to 20 + in 152 , 154 156 60 Nd 92 94 96 , 156 , 158 , 160 62 Sm 94 , 96 , 98 , and 160 , 162 64 Gd 96 , 98 . These nuclei exhibit a remarkable variety of identical bands and bands where the energies and moments of inertia are shifted by the same constant amount for every spin state from 2 + to 12 + for various combinations of nuclei differing by 2n, 4n, 2p, 4p, and α

  17. Dead or Alive? Knowledge about a Sibling's Death Varies by Genetic Relatedness in a Modern Society

    Directory of Open Access Journals (Sweden)

    Thomas V. Pollet

    2009-01-01

    Full Text Available Using a large sample of non-institutionalized individuals from the Netherlands (n = 7610, we examined the influence of relatedness on an individual's knowledge about whether their sibling is alive or not. Respondents were generally less likely to know whether their sibling was alive if they were not fully related. The effects were stronger for differences between paternal half-siblings and full siblings than for differences between maternal half-siblings and full siblings.

  18. Dead or Alive? Knowledge about a Sibling's Death Varies by Genetic Relatedness in a Modern Society

    OpenAIRE

    Pollet, Thomas; Nettle, Daniel

    2009-01-01

    Using a large sample of non-institutionalized individuals from the Netherlands (n = 7610), we examined the influence of relatedness on an individual's knowledge about whether their sibling is alive or not. Respondents were generally less likely to know whether their sibling was alive if they were not fully related. The effects were stronger for differences between paternal half-siblings and full siblings than for differences between maternal half-siblings and full siblings.

  19. Impact of HLA Diversity on Donor Selection in Organ and Stem Cell Transplantation

    OpenAIRE

    Tiercy Jean-Marie; Claas Frans

    2013-01-01

    The human major histocompatibility complex is a multigene system encoding polymorphic human leucocyte antigens (HLA) that present peptides derived from pathogens to the immune system. The high diversity of HLA alleles and haplotypes in the worldwide populations represents a major barrier to organ and allogeneic hematopoietic stem cell transplantation because HLA incompatibilities are efficiently recognized by T and B lymphocytes. In organ transplantation pre transplant anti HLA antibodies nee...

  20. The Perfect Storm: HLA Antibodies, Complement, FcγRs and Endothelium in Transplant Rejection

    OpenAIRE

    Thomas, Kimberly A.; Valenzuela, Nicole M.; Reed, Elaine F.

    2015-01-01

    The pathophysiology of antibody-mediated rejection (AMR) in solid organ transplants is multi-faceted and predominantly caused by antibodies directed against polymorphic donor human leukocyte antigens (HLA). Despite the clearly detrimental impact of HLA antibodies (HLA-Ab) on graft function and survival, the prevention, diagnosis and treatment of AMR remain a challenge. Histological manifestations of AMR reflect signatures of HLA-Ab-triggered injury, specifically endothelial changes, recipient...

  1. Ankylosing Spondylitis Patients with HLA-B*2704 have More Uveitis than Patients with HLA-B*2705 in a North Chinese Population.

    Science.gov (United States)

    Li, Haibo; Li, Qiuxia; Ji, Chen; Gu, Jieruo

    2018-01-01

    To investigate the correlation between clinical features of ankylosing spondylitis (AS) and different human leukocyte antigen (HLA)-B27 subtypes. We conducted a cross-sectional study of 216 patients with AS. HLA-B27 and its subtypes were detected by polymerase chain reaction with sequence specific primer (PCR-SSP). Clinical features were compared between the different HLA-B27 subtypes. A meta-analysis on uveitis frequencies in AS patients with HLA-B*2705 vs 2704 was performed. The most prevalent subtypes of HLA-B27 were HLA-B*2704 (66.1%) and HLA-B*2705 (32.2%). There were 57 HLA-B27-positive AS patients with the history of uveitis; 45 were B*2704 and 12 were B*2705. Patients with B*2704 had more uveitis than B*2705 (p = 0.021). After meta-analysis, there was no significant difference in the presence of uveitis between HLA-B*2704 and HLA-B*2705. AS patients with B*2704 have a higher risk of uveitis than AS with B*2705 in a north Chinese people.

  2. What is new HLA-B27 acute anterior uveitis?

    Science.gov (United States)

    Wakefield, Denis; Chang, John H; Amjadi, Shahriar; Maconochie, Zoe; Abu El-Asrar, Ahmed; McCluskey, Peter

    2011-04-01

    Acute anterior uveitis (AAU) is the most common form of uveitis, accounting for approximately 90% of all cases. Half of all cases of AAU are HLA-B27 positive. The disease is typically acute in onset, unilateral, nongranulomatous inflammation involving the iris and ciliary body, with a tendency to recurrent attacks. Approximately 50% of all patients with HLA-B27 AAU develop an associated seronegative arthritis (SNA), while approximately 25% of the patients initially diagnosed with HLA-B27 SNA develop AAU. Environmental factors play a critical role in the pathogenesis of AAU; in particular, bacterial triggers have been strongly implicated in the development of this disease. Topical corticosteroids and cycloplegic agents remain the cornerstones of treatment for AAU. Salazopirine and methotrexate are effective in decreasing recurrent attacks. Biological agents such as anti-TNF and anti-CD20 therapy may be effective in refractory severe AU but are rarely required.

  3. Implication of HLA-DMA Alleles in Corsican IDDM

    Directory of Open Access Journals (Sweden)

    P. Cucchi-Mouillot

    1998-01-01

    Full Text Available The HLA-DM molecule catalyses the CLIP/antigen peptide exchange in the classical class II peptide-binding groove. As such, DM is an antigen presentation regulator and may be linked to autoimmune diseases. Using PCR derived methods, a relationship was revealed between DM gene polymorphism and IDDM, in a Corsican population. The DMA*0101 allele was observed to confer a significant predisposition to this autoimmune disease while the DMA*0102 allele protected significantly. Experiments examining polymorphism of the HLA-DRB1 gene established that these relationships are not a consequence of linkage disequilibrium with HLA-DRB1 alleles implicated in this pathology. The study of the DMA gene could therefore be an additional tool for early IDDM diagnosis in the Corsican population.

  4. HLA-G Expression on Blasts and Tolerogenic Cells in Patients Affected by Acute Myeloid Leukemia

    Directory of Open Access Journals (Sweden)

    Grazia Locafaro

    2014-01-01

    Full Text Available Human Leukocyte Antigen-G (HLA-G contributes to cancer cell immune escape from host antitumor responses. The clinical relevance of HLA-G in several malignancies has been reported. However, the role of HLA-G expression and functions in Acute Myeloid Leukemia (AML is still controversial. Our group identified a subset of tolerogenic dendritic cells, DC-10 that express HLA-G and secrete IL-10. DC-10 are present in the peripheral blood and are essential in promoting and maintaining tolerance via the induction of adaptive T regulatory (Treg cells. We investigated HLA-G expression on blasts and the presence of HLA-G-expressing DC-10 and CD4+ T cells in the peripheral blood of AML patients at diagnosis. Moreover, we explored the possible influence of the 3′ untranslated region (3′UTR of HLA-G, which has been associated with HLA-G expression, on AML susceptibility. Results showed that HLA-G-expressing DC-10 and CD4+ T cells are highly represented in AML patients with HLA-G positive blasts. None of the HLA-G variation sites evaluated was associated with AML susceptibility. This is the first report describing HLA-G-expressing DC-10 and CD4+ T cells in AML patients, suggesting that they may represent a strategy by which leukemic cells escape the host’s immune system. Further studies on larger populations are required to verify our findings.

  5. HLA-G, immunocompetent cells and pregnancy outcome : a case of modulation

    NARCIS (Netherlands)

    Emmer, Peter Martin

    2003-01-01

    In this thesis we address the immunomodulatory role of human leukocyte antigen G (HLA-G). The placental trophoblast cells express HLA-G as membrane bound and soluble form (due to alternative splicing) at the fetomaternal interface. HLA-G putatively interacts with the maternal endometrial (decidual)

  6. Peptide immunisation of HLA-DR-transgenic mice permits the identification of a novel HLA-DRbeta1*0101- and HLA-DRbeta1*0401-restricted epitope from p53.

    Science.gov (United States)

    Rojas, José Manuel; McArdle, Stephanie E B; Horton, Roger B V; Bell, Matthew; Mian, Shahid; Li, Geng; Ali, Selman A; Rees, Robert C

    2005-03-01

    Because of the central role of CD4(+) T cells in antitumour immunity, the identification of the MHC class II-restricted peptides to which CD4(+) T cells respond has become a priority of tumour immunologists. Here, we describe a strategy permitting us to rapidly determine the immunogenicity of candidate HLA-DR-restricted peptides using peptide immunisation of HLA-DR-transgenic mice, followed by assessment of the response in vitro. This strategy was successfully applied to the reported haemaglutinin influenza peptide HA(307-319), and then extended to three candidate HLA-DR-restricted p53 peptides predicted by the evidence-based algorithm SYFPEITHI to bind to HLA-DRbeta1*0101 (HLA-DR1) and HLA-DRbeta1*0401 (HLA-DR4) molecules. One of these peptides, p53(108-122), consistently induced responses in HLA-DR1- and in HLA-DR4-transgenic mice. Moreover, this peptide was naturally processed by dendritic cells (DCs), and induced specific proliferation in the splenocytes of mice immunised with p53 cDNA, demonstrating that immune responses could be naturally mounted to the peptide. Furthermore, p53(108-122) peptide was also immunogenic in HLA-DR1 and HLA-DR4 healthy donors. Thus, the use of this transgenic model permitted the identification of a novel HLA-DR-restricted epitope from p53 and constitutes an attractive approach for the rapid identification of novel immunogenic MHC class II-restricted peptides from tumour antigens, which can ultimately be incorporated in immunotherapeutic protocols.

  7. Siblings of Youth with Autism Spectrum Disorders: Theoretical Perspectives on Sibling Relationships and Individual Adjustment

    Science.gov (United States)

    McHale, Susan M.; Updegraff, Kimberly A.; Feinberg, Mark E.

    2016-01-01

    A burgeoning research literature investigates the sibling relationships of youth with autism spectrum disorder (ASD) and their implications for individual adjustment. Focusing on four relationship domains--behaviors, emotions, cognitions and involvement--and toward advancing this generally atheoretical literature, we review and apply tenets from a…

  8. Upaya Mengatasi Sibling Rivalry melalui Layanan Konseling Kelompok

    Directory of Open Access Journals (Sweden)

    Eli Turniati

    2015-12-01

    Full Text Available Penelitian ini dilakukan berdasarkan fenomena yang terjadi pada siswa kelas VI SDN Sendangmulyo 02 kecamatan Tembalang kota Semarang yang mengalami sibling rivalry. Tujuan penelitian ini yaitu untuk mengetahui apakah konseling kelompok dapat mengatasi sibling rivalry pada siswa kelas VI SDN Sendangmulyo 02. Jenis penelitian adalah penelitian eksperiment dengan desain penelitian one group pre-test dan pos-test design. Subyek penelitian ini, siswa kelas VI SDN Sendangmulyo 02 yang memiliki tingkat sibling rivalry tinggi yang diperoleh dari hasil DCM dan rekomendasi dari guru kelas yaitu terjaring 10 siswa. Metode pengumpulan data menggunakan skala psikologis berupa skala sibling rivalry. Analisis data menggunakan teknik analisis data deskriptif persentase dan uji wilcoxon. Hasil penelitian menunjukan sibling rivalry siswa sebelum diberi perlakuan berupa konseling kelompok dalam kategori tinggi (75.14%. Setelah diberikan konseling kelompok menunjukkan perbedaan, dilihat dari hasil pos test rata-rata sibling rivalry siswa menurun yaitu berada pada kategori rendah (42,95%. Hal tersebut menunjukan bahwa sibling rivalry dapat diatasi melalui layanan konseling kelompok This research was conducted based on phenomena that occur in grade VI SDN Sendangmulyo 02 Tembalang Semarang who experienced sibling rivalry. The purpose of this research is to find out if counseling groups can overcome sibling rivalry at grade VI SDN Sendangmulyo 02. This type of research is research research design alphabets experiment one group pre test and post test design. The subject of this study, students of class VI SDN Sendangmulyo 02 that has a high level of sibling rivalry that results obtained from DCM and the recommendations of the master class that is netted 10 students. Method of data collection using a scale of psychological scale in the form of sibling rivalry. Data analysis data analysis techniques using a descriptive percentage and wilcoxon test. The research results

  9. NetMHCIIpan-3.0, a common pan-specific MHC class II prediction method including all three human MHC class II isotypes, HLA-DR, HLA-DP and HLA-DQ

    DEFF Research Database (Denmark)

    Karosiene, Edita; Rasmussen, Michael; Blicher, Thomas

    2013-01-01

    Major histocompatibility complex class II (MHCII) molecules play an important role in cell-mediated immunity. They present specific peptides derived from endosomal proteins for recognition by T helper cells. The identification of peptides that bind to MHCII molecules is therefore of great importa......MHCIIpan-3.0 method is the first pan-specific predictor covering all HLA class II molecules with known sequences including HLA-DR, HLA-DP, and HLA-DQ. The NetMHCpan-3.0 method is available at http://www.cbs.dtu.dk/services/NetMHCIIpan-3.0....

  10. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  11. HLA-DP antigens in HIV-infected individuals

    DEFF Research Database (Denmark)

    Ødum, Niels; Georgsen, J; Fugger, L

    1991-01-01

    We studied the distribution of HLA-DP antigens in 74 HIV-infected Danish homosexual men and 188 ethnically matched healthy individuals, using the primed lymphocyte typing (PLT) technique. Forty of the patients developed AIDS within 3 years after diagnosis, whereas the remaining 34 were healthy...... or had only minor symptoms for 3 years or more (median observation time was 42 months). HLA-DPwl seemed to be decreased (relative risk = 0.3) in AIDS patients (5.0 per cent) when compared to patients with minor symptoms (14.7 per cent) and healthy controls (14.9 per cent). These differences were, however...

  12. El complejo mayor de histocompatibilidad humano: sistema HLA

    Directory of Open Access Journals (Sweden)

    Luis Fernando García

    1989-02-01

    Full Text Available

    El complejo mayor de histocompatibilidad humano, o sistema HLA, está localizado en el brazo corto del cromosoma 6. Sus genes codifican tres tipos de moléculas. Los antígenos clase I (HLA-A, B, C y E están formados por una cadena pesada unida no covalentemente a la β2-microglobulina y se expresan en la superficie de la mayoría de las células nucleadas del organismo. Estos antígenos actúan como elementos de restricción en la activación de los linfocitos T CD8+. Los antígenos clase II son dímeros compuestos por cadenas α y β y su distribución tisular está limitada sólo a algunos tipos de células. Estas moléculas actúan restringiendo la presentación de antígenos a los linfocitos CD4+. Los antígenos de clase III son proteínas plasmáticas del sistema del complemento. Los diferentes loci del sistema HLA son muy polimórficos y sus productos se heredan en bloques conocidos como haplotipos. Debido a que los diferentes grupos étnicos presentan variaciones en la frecuencia de ale ios y haplotipos, el HLA ha sido muy útil en los estudios antropogenéticos. Algunos antígenos HLA están presentes en pacientes con determinadas enfermedades con una frecuencia significativamente diferente a la encontrada en la población general. Estos hallazgos han sido de gran importancia para comprender la patogénesis y los mecanismos genéticos de resistencia o susceptibilidad a dichas enfermedades. En el campo de los transplantes de órganos, la compatibilidad HLA donante-receptor correlaciona con la sobrevida del injerto. El sistema HLA también parece tener mucha importancia en los fenómenos inmunológicos que ocurren durante el

  13. In vitro generation of Epstein-Barr virus-specific cytotoxic T cells in patients receiving haplo-identical allogeneic stem cell transplantation.

    Science.gov (United States)

    Musk, P; Szmania, S; Galloway, A T; Johnson, K; Scott, A; Guttman, S; Bridges, K; Bruorton, M; Gatlin, J; Garcia, J V; Lamb, L; Chiang, K Y; Spencer, T; Henslee-Downey, J; van Rhee, F

    2001-01-01

    Use of a partially mismatched related donor (PMRD) is an option for patients who require allogeneic transplantation but do not have a matched sibling or unrelated donor. Epstein-Barr virus (EBV)-induced lymphoma is a major cause of mortality after PMRD transplantation. In this study, we present a clinical grade culture system for donor-derived EBV-specific cytotoxic T cells (CTLs) that do not recognize haplo-identical recipient cells. The EBV-specific CTLs were tested for cytolytic specificity and other functional properties, including ability to transgress into tissues, propensity for apoptosis, degree of clonality, stability of dominant T-cell clones, and Tc and Th phenotypes. The EBV-specific CTLs were routinely expanded to greater than 80 x 10(6) over a period of 5 weeks, which is sufficient for clinical application. A CD8+ phenotype predominated, and the CTLs were highly specific for donor lymphoblastoid cell lines (LCLs) without killing of recipient targets or K562. Vbeta spectratyping showed an oligoclonal population that was stable on prolonged culture. The EBV-specific CTLs were activated (D-related human leukocyte antigen [HLA-DR+], L-selectin+/-) and of memory phenotype (CD45RO+). Expression of the integrin VLA-4 suggested that these CTLs could adhere to endothelium and migrate into tissues. The Bcl-2 message was upregulated, which may protect the CTLs from the apoptosis. The first demonstration of overexpression of bcl-2 in human memory CTLs. In addition, we show that lymphoblastoid cell lines used to generate CTLs are readily genetically modified with recombinant lentivirus, indicating that genetically engineered antigen presentation is feasible.

  14. Psychological Symptomatology in Siblings of Children with ADHD

    Science.gov (United States)

    Listug-Lunde, Lori; Zevenbergen, Andrea A.; Petros, Thomas V.

    2008-01-01

    Objective: Studies utilizing parent-report measures have identified above average levels of internalizing and externalizing problems in siblings of children diagnosed with ADHD. Scant research has examined siblings' self-report on standardized measures of emotional functioning. The current study examined parent-reported and child self-reported…

  15. Relational Aggression in Sibling and Peer Relationships during Early Childhood

    Science.gov (United States)

    Ostrov, Jamie M.; Crick, Nicki R.; Stauffacher, Kirstin

    2006-01-01

    The role of siblings ("N" = 50) in the display of physical and relational aggression among peers during early childhood was explored. Specifically, sibling pairs' rates of physical and relational aggression were assessed in their independent social contexts. Findings indicated low to moderate levels of intercorrelation between physical and…

  16. Adolescent Depression and Time Spent with Parents and Siblings

    Science.gov (United States)

    Desha, Laura N.; Nicholson, Jan M.; Ziviani, Jenny M.

    2011-01-01

    This study examines adolescent depressive symptoms and the quantity and quality of time spent by adolescents with their parents and siblings. We use measures of the quality of relationships with parents and siblings as proxy indicators for the quality of time spent with these social partners. The study emphasizes the salience of parent…

  17. Types of sons/siblings, fraternal function and peers

    Directory of Open Access Journals (Sweden)

    Luisa Brunori

    2013-12-01

    Full Text Available In this article, the author starts by exploring family dynamics using the psychodynamic-groupanalytic paradigm to explore the intertwined relationships amongst the family figures like son, daughter, parents and sibling. The work focuses on the analysis of the psychological aspects related to siblings in the family, birth order and their consequences.

  18. Support Between Siblings and Between Friends : Two Worlds Apart?

    NARCIS (Netherlands)

    Voorpostel, Marieke; Lippe, Tanja van der

    2007-01-01

    This research examines whether siblings and friends resemble each other in supportive behavior. Using a Dutch national sample of 6,289 individuals containing 12,578 relationships with siblings and friends, we investigated the relative importance of gender composition, geographical proximity,

  19. Sibling Socialization: The Effects of Stressful Life Events and Experiences

    Science.gov (United States)

    Conger, Katherine J.; Stocker, Clare; McGuire, Shirley

    2009-01-01

    Stressful life events and experiences may disrupt the typical day-to-day interactions between sisters and brothers that provide the foundation of sibling socialization. This chapter examines four experiences that may affect patterns of sibling interaction: parental marital conflict, parental divorce and remarriage, foster care placement, and a…

  20. Caregiving, perceptions of maternal favoritism, and tension among siblings.

    Science.gov (United States)

    Suitor, J Jill; Gilligan, Megan; Johnson, Kaitlin; Pillemer, Karl

    2014-08-01

    Studies of later-life families have revealed that sibling tension often increases in response to parents' need for care. Both theory and research on within-family differences suggest that when parents' health declines, sibling relations may be affected by which children assume care and whether siblings perceive that the parent favors some offspring over others. In the present study, we explore the ways in which these factors shape sibling tension both independently and in combination during caregiving. In this article, we use data collected from 450 adult children nested within 214 later-life families in which the offspring reported that their mothers needed care within 2 years prior to the interview. Multilevel analyses demonstrated that providing care and perceiving favoritism regarding future caregiving were associated with sibling tension following mothers' major health events. Further, the effects of caregiving on sibling tension were greater when perceptions of favoritism were also present. These findings shed new light on the conditions under which adult children are likely to experience high levels of sibling tension during caregiving. Understanding these processes is important because siblings are typically the individuals to whom caregivers are most likely to turn for support when assuming care of older parents, yet these relationships are often a major source of interpersonal stress. © The Author 2013. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  1. Perceived support in sibling relationships and adolescent adjustment

    NARCIS (Netherlands)

    Branje, S.J.T.; Lieshout, C.F.M. van; Aken, M.A.G. van; Haselager, G.J.T.

    2004-01-01

    Background: Siblings may support each other, but also reveal fierce rivalry and mutual aggression. Supportive sibling relationships have been linked to the development of psychosocial competence of children. In the present longitudinal study, we will focus on the development of perceived support in

  2. Infant-mother and infant-sibling attachment in Zambia.

    Science.gov (United States)

    Mooya, Haatembo; Sichimba, Francis; Bakermans-Kranenburg, Marian

    2016-12-01

    This study, the first in Zambia using the Strange Situation Procedure (SSP) to observe attachment relationships and the "very first" observational study of infant-sibling attachment, examined patterns of infant-mother and infant-sibling attachment, and tested their association. We included siblings who were substantially involved in caregiving activities with their younger siblings. We hypothesized that infants would develop attachment relationships to both mothers and siblings; the majority of infants would be classified as securely attached to both caregivers, and infant-mother and infant-sibling attachment would be unrelated. The sample included 88 low-income families in Lusaka, Zambia (average of 3.5 children; SD = 1.5). The SSP distributions (infant-mother) were 59% secure, 24% avoidant and 17% resistant, and 46% secure, 20% avoidant, 5% resistant and 29% disorganized for three- and four-way classifications, respectively. The infant-sibling classifications were 42% secure, 23% avoidant and 35% resistant, and 35% secure, 23% avoidant, 9% resistant and 33% disorganized for three- and four-way classifications, respectively. Infant-mother and infant-sibling attachment relationships were not associated.

  3. Parents, Siblings, and Peers: Close Social Relationships and Adolescent Deviance.

    Science.gov (United States)

    Ardelt, Monika; Day, Laurie

    2002-01-01

    Examined relations between parents, older siblings, peers, adolescents' individual characteristics, and adolescents' deviant attitudes and behaviors among inner-city families. Structural equation models showed that older deviant siblings had the strongest effect on adolescent deviance. Positive family relationships, parental support, and…

  4. Korean sibling caregivers of individuals diagnosed with schizophrenia

    Directory of Open Access Journals (Sweden)

    Mijung Park

    2017-12-01

    Full Text Available Siblings of individuals diagnosed with schizophrenia are an important source of family caregiving. Unfortunately, limited information is available about sibling caregivers because existing studies have focused on other family relationships such as parents, spouses, and children. To fill the knowledge gap, the purpose of this study is to describe Korean sibling caregivers’ experience with individuals diagnosed with schizophrenia. Guided by Colaizzi’s descriptive phenomenological methodology, we conducted in-depth, semi-structured, face-to-face interviews with eight individuals who have a sibling (1 diagnosed with schizophrenia and (2 hospitalized in an inpatient psychiatric unit. We discerned six key themes: sorrow, burnout, shame, different perspectives in life, acceptance, and responsibility. We categorized these themes into three groups: suffering, hope, and responsibility and obligation. Sibling caregivers of individuals with schizophrenia experience a mixture of several emotions. Participants loved their brother or sister with schizophrenia, but at the same time they felt shame and fear. While they were burdened by the responsibilities of caregiving, they remained loyal to their sibling with schizophrenia, continuing to help their siblings reach their full potential. Although participants were confused about the symptoms of schizophrenia, they were committed to learning more about the illness. Because we conducted the current study in Korea, the findings of this study may be unique to Korea culture. Further studies are needed to compare and contrast nuanced differences in sibling caregivers’ experience among different cultural groups.

  5. Birth Order, Sibling IQ Differences, and Family Relations.

    Science.gov (United States)

    Pfouts, Jane H.

    The differential impact of birth order and IQ on sibling roles were examined with particular interest focused on achievement outcomes. Subjects were a stratified sample of 37 pairs of near-in-age siblings, all within the normal range in personality and IQ, but differing significantly in scores on the Slosson IQ Test. Results indicate that when the…

  6. Cortical Excitability Measures in Patients and Unaffected Siblings

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-05-01

    Full Text Available Researchers at St Vincent's Hospital, Victoria, Australia, measured cortical excitability using transcranial magnetic stimulation in 157 patients with epilepsy (95 generalized and 62 focal and their asymptomatic siblings and results were compared to those of 12 controls and 20 of their siblings.

  7. Socialization, Social Cognitive Factors and the Sibling Relationship.

    Science.gov (United States)

    Howe, Nina

    Two separate studies suggest that the development of positive sibling relations may be related to siblings' social-cognitive skills (Stewart & Marvin, 1984) and the nature of mothers' conversations with their children (Dunn & Kendrick, 1982). The purpose of the present study was to provide a synthesis of these two studies and to demonstrate the…

  8. A report of heat stroke in two Nigerian siblings

    African Journals Online (AJOL)

    2014-05-31

    May 31, 2014 ... Two Nigerian siblings aged ... Case Report. Two male siblings, aged 3 (Case 1) and 5‑year‑old (Case 2) ... stroke with the resultant neurological and multi organ dysfunction,[11] ... urine color cleared within 24 h of admission.

  9. Alcohol-related morbidity and mortality within siblings

    DEFF Research Database (Denmark)

    Søndergaard, Grethe; Osler, Merete; Andersen, Anne-Marie Nybo

    2015-01-01

    AIMS: To estimate the association between educational status and alcohol-related somatic and non-somatic morbidity and mortality among full siblings in comparison with non-related individuals. DESIGN: Cohort study. SETTING: Denmark. PARTICIPANTS: Approximately 1.4 million full siblings born in De...

  10. Helping as Coping by Siblings of the Disabled.

    Science.gov (United States)

    Midlarsky, Elizabeth; Hannah, Mary Elizabeth

    Research has shown that siblings can experience either negative or positive mental health outcomes as a result of having a brother or sister with disabilities. When maladjustment occurs, it is frequently attributed to the stress of excessive helping. This research-based paper proposes that siblings of children with disabilities, perceiving…

  11. The effect of educational interventions with siblings of hospitalized children.

    Science.gov (United States)

    Gursky, Barbara

    2007-10-01

    Research has demonstrated that siblings of chronically ill children can experience significant emotional and behavior changes; however, few studies have looked at the specific impact of pediatric hospitalization on the nonhospitalized child. Studies also indicate that children who receive age-appropriate information are better equipped to handle the stress and anxiety often associated with hospitalization.This study explored whether siblings of hospitalized children who received educational interventions had lower anxiety levels compared to siblings who did not receive interventions. A pretest-posttest experimental design was used with 50 subjects, ages 6-17 years, recruited from a children's hospital within a university medical center. Subjects were matched according to age, sex, and race, with 25 siblings each in the experimental and control groups. Siblings assigned to the experimental group received interventions from a standardized educational intervention protocol developed by the researcher. Interventions focused on teaching the sibling about hospitalization, illness or injury, and treatment for the patient, based on cognitive stages of development. All interventions were conducted by child life specialists on staff at the hospital with extensive training and experience in preparation and procedural teaching. Results shows that siblings who received educational interventions had significantly lower anxiety levels after interventions, compared to siblings who did not receive interventions. These findings have significant impact on children's health care and supporting family needs when a child is hospitalized.

  12. Outcomes in Adult Life among Siblings of Individuals with Autism

    Science.gov (United States)

    Howlin, Patricia; Moss, Philippa; Savage, Sarah; Bolton, Patrick; Rutter, Michael

    2015-01-01

    Little is known about adult siblings of individuals with autism. We report on cognitive, social and mental health outcomes in 87 adult siblings (mean age 39 years). When younger all had been assessed either as being "unaffected" by autism (n = 69) or as meeting criteria for the "Broader Autism Phenotype" (BAP, n = 18). As…

  13. Hostile siblings in the abused child’s mind

    DEFF Research Database (Denmark)

    Grünbaum, Liselotte

    , in an experience of siblings as representing violent inner parental objects not fully differentiated from hostile sibling objects, e.g. linked to a fantasy of an inattentive breast-mother feeding herself and a violent paternal part-object, the two of them in a fused state becoming merged as an undifferentiated...

  14. The Lived Experience of Losing a Sibling through Murder

    African Journals Online (AJOL)

    denise

    siblings. Homicide survivor bereavement, as a grief experience relative to other ... who have lost a child through murder, and, to a lesser ... siblings taking on the role of protector of their parents ...... fearful and angry feelings that contribute to their ... the adolescent to young adult transition: A developmental resilience model.

  15. Adult Sibling Relationships with Brothers and Sisters with Severe Disabilities

    Science.gov (United States)

    Rossetti, Zach; Hall, Sarah

    2015-01-01

    The purpose of this qualitative study was to examine perceptions of adult sibling relationships with a brother or sister with severe disabilities and the contexts affecting the relationships. Adult siblings without disabilities (N = 79) from 19 to 72 years of age completed an online survey with four open-ended questions about their relationship…

  16. Shyness, Sibling Relationships, and Young Children's Socioemotional Adjustment at Preschool

    Science.gov (United States)

    Graham, Allison A.; Coplan, Robert J.

    2012-01-01

    The purpose of this research was to examine the moderating role of sibling relationship quality in the associations between shyness and indices of socioemotional adjustment in an early childhood education context. Participants were 79 children ages 4 to 6 (M = 4.74 years) who had at least one sibling. Parents completed ratings of child shyness,…

  17. Autism Spectrum Disorders and Sibling Relationships: Research and Strategies

    Science.gov (United States)

    Beyer, Julia F.

    2009-01-01

    Significant attention has been paid in the literature to sibling relationships and the effects of birth order, family size, and gender on such relationships. Although these are important areas to study, there is relatively little research on the effects of autism spectrum disorders (ASD) on sibling relationships. The existent research identifies…

  18. Latino Adolescents' Academic Motivation: The Role of Siblings

    Science.gov (United States)

    Alfaro, Edna C.; Umana-Taylor, Adriana J.

    2010-01-01

    Guided by an ecological perspective, two competing models were tested to examine how sibling relationship quality directly predicted or interacted with academic support from siblings to predict Latino adolescents' academic motivation (N = 258). Gender differences were examined utilizing multiple group analysis in structural equation modeling.…

  19. Conflict and Friendship in Sibling Relationships: A Review.

    Science.gov (United States)

    Newman, Joan

    1994-01-01

    Reviews research findings about the nature and development of typical sibling relationships. Discusses two important themes, the role of children's social cognition skills, and the role of the demands of the relationship. Addresses two questions: (1) the prevalence and features of sibling rivalry and conflict; and (2) the characteristics of…

  20. Sibling Squabbles: How to Cope With Your Children Fighting.

    Science.gov (United States)

    Branvold, Sharon L.

    1995-01-01

    This article discusses what is normal and what is not regarding sibling rivalry, jealousy, and squabbling, and it provides some guidance for parents on handling conflict. The article also discusses three major sources of sibling conflict (jealousy, being left alone together, and family trips) and offers suggestions for dealing with each case. (SM)