Factors associated with romantic relationship formation difficulties in women with breast cancer.

OBJECTIVE: Many un-partnered women report difficulty in forming romantic relationships after breast cancer, characterized by high dating-related anxiety and low perceived interpersonal competence. This study examined the relationship between poor body image (appearance investment and body dissatisfaction) and self-compassion, and women's ability to form romantic relationships post-breast cancer. METHODS: Women (N = 152) diagnosed with breast cancer, who were either un-partnered and expressed interest in romantic dating, or who had commenced a relationship post-diagnosis, completed an online survey. Assessments included the Interpersonal Competence Questionnaire, Dating Anxiety Scale, Self-compassion Scale, Appearance Schemas Inventory-Revised, Body Image Scale, and Experiences in Close Relationships Scale. Multiple regression analyses assessed the relationships between these variables. RESULTS: Partnered and un-partnered women differed in levels of dating anxiety, interpersonal competence, anxious attachment, and the self-evaluative salience facet of appearance investment. Analyses revealed a significant model for dating anxiety, with high self-evaluative salience, body image dissatisfaction, and attachment avoidance independently associated with this outcome. The model for interpersonal competence was also significant, with low attachment avoidance and high self-compassion independently associated with this outcome. CONCLUSIONS: Un-partnered women who place high importance on appearance for their self-worth and who report poor body image and low self-compassion are at risk of experiencing difficulties in forming new romantic relationships after breast cancer. Future interventions should target these variables to facilitate romantic dating during cancer survivorship.

Validation of the Croatian and Lebanese Revised Illness Perception Questionnaires for Healthy People (IPQ-RH).

The absence of Croatian- and Arabic-language measures to assess illness representations has contributed to lack of research among Croatian and Lebanese populations. Utilising the robust confirmatory factor analysis (CFA) approach, this study aimed to validate Croatian and Arabic versions of the Revised Illness Perception Questionnaire for Healthy People (IPQ-RH) in the breast and cervical cancer contexts, and compared these illness perceptions among Croatian and Lebanese women living in Australia. Forward and back-translated versions of the IPQ-RH were administered in Croatian to Croatian-born (n = 238), and Arabic to Lebanese-born (n = 240) women. The IPQ-RH illness perceptions were assessed for each cancer type, and the Negative Affect (NA) subscale of the Positive and Negative Affect Schedule (PANAS) assessed discriminant validity. The CFA method demonstrated acceptable models across the Croatian and Lebanese IPQ-RH measures. The internal reliabilities for the IPQ-RH subscales were adequate and the subscales had low correlations with the NA subscale of the PANAS, indicating that the IPQ-RH measures are largely distinguishable from negative affective dispositions. These findings demonstrate that the Croatian and Lebanese IPQ-RH breast and cervical cancer measures have a factor structure similar to the originally developed IPQ-RH scale and provide further support for the theoretically developed illness representations.

Linkage analysis of susceptibility to leprosy type using an IBD regression method.

Leprosy is a chronic disease caused by infection with Mycobacterium leprae, which is manifested across a wide clinical spectrum. There is evidence that susceptibility both to leprosy per se and to the clinical type of leprosy is influenced by host genetic factors. This paper describes the application of an identity by descent regression search for genetic determinants of leprosy type among families from Karonga District, Northern Malawi. Suggestive evidence was found for linkage to leprosy type on chr 21q22 (P<0.001). The methodological implications of the approach and the findings are discussed.

CR1 Knops blood group alleles are not associated with severe malaria in the Gambia.

The Knops blood group antigen erythrocyte polymorphisms have been associated with reduced falciparum malaria-based in vitro rosette formation (putative malaria virulence factor). Having previously identified single-nucleotide polymorphisms (SNPs) in the human complement receptor 1 (CR1/CD35) gene underlying the Knops antithetical antigens Sl1/Sl2 and McC(a)/McC(b), we have now performed genotype comparisons to test associations between these two molecular variants and severe malaria in West African children living in the Gambia. While SNPs associated with Sl:2 and McC(b+) were equally distributed among malaria-infected children with severe malaria and control children not infected with malaria parasites, high allele frequencies for Sl 2 (0.800, 1,365/1,706) and McC(b) (0.385, 658/1706) were observed. Further, when compared to the Sl 1/McC(a) allele observed in all populations, the African Sl 2/McC(b) allele appears to have evolved as a result of positive selection (modified Nei-Gojobori test Ka-Ks/s.e.=1.77, P-value <0.05). Given the role of CR1 in host defense, our findings suggest that Sl 2 and McC(b) have arisen to confer a selective advantage against infectious disease that, in view of these case-control study data, was not solely Plasmodium falciparum malaria. Factors underlying the lack of association between Sl 2 and McC(b) with severe malaria may involve variation in CR1 expression levels.

Interferon-alpha receptor-1 (IFNAR1) variants are associated with protection against cerebral malaria in the Gambia.

The chromosome 21q22.11 cytokine receptor cluster contains four genes that encode subunits of the receptors for the cytokines interleukin-10 and interferon-alpha, -beta and -gamma that may have a role in malaria pathogenesis. A total of 15 polymorphic markers located within these genes were initially genotyped in 190 controls and 190 severe malaria cases from The Gambia. Two interferon-alpha receptor-1 (IFNAR1) gene SNPs (17470 and L168 V) showed evidence for an association with severe malaria phenotypes and were typed in a larger series of samples comprising 538 severe malaria cases, 338 mild malaria cases and 562 controls. Both the 17470-G/G and L168V-G/G genotypes were associated with protection against severe malaria, in general, and cerebral malaria, in particular (P=0.004 and 0.003, respectively). IFNAR1 diplotypes were then constructed for these two markers using the PHASE software package. The (17470-G L168V-G/17470-G L168V-G) diplotype was found to be associated with a reduced risk of cerebral malaria and the (17470-C L168V-C/17470-G L168V-G) diplotype with an increased risk of cerebral malaria (overall 3 x 2 chi(2)=12.8, d.f.=2, P=0.002 and 3 x 2 chi(2)=15.2, d.f.=2, P=0.0005, respectively). These data suggest a role for the type I interferon pathway in resistance to cerebral malaria.

Genetics of susceptibility to leprosy.

The ancient disease of leprosy can cause severe disability and disfigurement and is still a major health concern in many parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy sufferers. The outcome of infection is in part due to host genes that influence control of the initial infection and the host's immune response to that infection. Identification of the host genes that influence host susceptibility/resistance will enable a greater understanding of disease pathogenesis. In turn, this should facilitate development of more effective therapeutics and vaccines. So far at least a dozen genes have been implicated in leprosy susceptibility and a genome-wide linkage study has lead to the identification of at least one positional candidate. These findings are reviewed here.

Genetics of susceptibility to leprosy

The ancient disease of leprosy can cause severe disability and disfigurement and is still a major health concern in many parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy sufferers. The outcome of infection is in part due to host genes that influence control of the initial infection and the host's immune response to that infection. Identification of the host genes that influence host susceptibility/resistance will enable a greater understanding of disease pathogenesis. In turn, this should facilitate development of more effective therapeutics and vaccines. So far at least a dozen genes have been implicated in leprosy susceptibility and a genome-wide linkage study has lead to the identification of at least one positional candidate. These findings are reviewed here.

Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia.

We investigated the feasibility and diagnostic utility of genotyping 9 CYP21 mutations, linked chromosome 6p markers, and a dimorphic X-Y marker from neonatal screening samples. Blood-impregnated filter papers (Guthrie cards) from 603 randomly chosen New Zealand neonates were genotyped blind to 17-hydroxyprogesterone (17-OHP) levels. Another 50 samples from Swiss and North American infants with correlative hormonal data were also genotyped. DNA was extracted, and gene-specific PCR was performed. CYP21 PCR products were subjected to ligase detection reaction, simultaneously analyzing 9 CYP21 mutations; PCR products of other genes were subjected to direct gel analysis. CYP21 genotyping indicated a heterozygote rate of 2.8% for classic mutations (excluding CYP21 deletions), and 2.0% for nonclassic mutations in New Zealanders. Ten full-term affected neonates showed a wide range of 17-OHP levels (15-1400 nmol/L). Sick or preterm infants or infants screened on the first day of life with high 17-OHP proved genetically unaffected. Genetic linkage disequilibrium was found between two CYP21 mutations and chromosome 6p markers. Guthrie cards can be used to accurately genotype CYP21 and other relevant markers, potentially enhancing the specificity and sensitivity of congenital adrenal hyperplasia screening. CYP21 heterozygote frequency for classic mutations is higher than expected based on genotype compared with that predicted by hormonal newborn screening.

Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.

Steroid 21-hydroxylase deficiency is among the most common inborn errors of metabolism in man. Characterization of mutations in the 21-hydroxylase gene (CYP21) has permitted genetic diagnosis, facilitated by the polymerase chain reaction (PCR). The most common mutation is conversion of an A or C at nt656 to a G in the second intron causing aberrant splicing of mRNA. Homozygosity for nt656G is associated with profoundly deficient adrenal cortisol and aldosterone synthesis, secondary hypersecretion of adrenal androgens, and a severe form of congenital adrenal hyperplasia (CAH) characterized by ambiguous genitalia and/or sodium wasting in newborns. During the course of genetic analysis of CYP21 mutations in CAH families, we and others have noticed a number of relatives genotyped as nt656G homozygotes, yet showing no clinical signs of disease. A number of lines of evidence have led us to propose that the putative asymptomatic nt656G/G individuals are incorrectly typed due to dropout of one haplotype during PCR amplification of CYP21. For prenatal diagnosis, we recommend that microsatellite typing be used as a supplement to CYP21 genotyping in order to resolve ambiguities at nt656.

Love, hate, anger, and jealousy in close relationships: a prototype and cognitive appraisal analysis.

The aim of this research was to make a prototype and cognitive appraisal analysis of 4 emotions within marriage. In Study 1, 160 Ss recalled and wrote about a partner-related love, hate, anger, or jealousy incident. Distinct prototypes and appraisal patterns were obtained. In Study 2, 80 Ss wrote accounts of hypothetical love, hate, anger, and jealousy events in marriage. The results suggested both recalled and hypothetical accounts were derived from the same knowledge structures. In Study 3, Ss matched emotions to events described with varying amounts of prototypical and appraisal information, derived from Study 1. Adding such information significantly increased emotion-matching accuracy over the event-description-only condition. The results are discussed in relation to prototype and cognitive appraisal theories of emotion in close relationships.