A study of the genetic basis of C4A protein deficiency. Detection of C4A gene deletion by long-range PCR and its associated haplotypes.

Objective: Study the frequency of C4A gene deletions as the genetic basis of C4A protein deficiency (C4AQ0) and its associated haplotypes in Icelandic SLE families. Materials and methods: Nine multiplex SLE families were genotyped for C4A gene deletions using LR-PCR and MHC haplotypes were defined. Results: Of SLE patients, first- and second-degree relatives, 53,8%, 47,9% and 28,6% had C4AQ0, respectively. A C4A gene deletion is the genetic basis for C4AQ0 in 64,3% of SLE patients, 60,0% of first-degree and 50,0% of second-degree relatives. All individuals carrying haplotype B8-C4AQ0-C4B1-DR3 had a deletion and the deletion was also found on haplotypes B8-C4AQ0-C4B1-DR7 and B7-C4AQ0-C4B1-DR3. Conclusion: The study shows that a C4A gene deletion is the most common genetic basis for C4AQ0. It accounts for 2/3 of C4AQ0 and is found on different MHC haplotypes. 1/3 of C4AQ0 is due to other yet undefined genetic changes. The results thus demonstrate a heterogeneous genetic background for C4AQ0, giving further support for the hypothesis that C4AQ0 may be an independent risk factor for SLE

Addressing Sexuality as Standard Care in People with an Upper Limb Deficiency:Taboo or Necessary Topic?

<p>The purpose of this paper is to analyze whether professionals who work with people with an upper limb deficiency (ULD) received questions about sexuality from their patients and whether they addressed sexuality themselves, and to analyze their knowledge and comfort level, approach and attitudes towards sexuality. An online questionnaire, including questions on self-perceived sexological competence and the Knowledge, Comfort, Approach and Attitudes towards Sexuality Scale (KCAASS) was used to asses these aspects. One out of three professionals had received a question about sexuality from their patients. Nearly one out of five professionals had addressed sexuality themselves. Professionals who received a question about sexuality from patients or addressed this issue themselves had significantly higher scores on self-perceived knowledge about sexuality and on self-perceived conversation skills compared to professionals who did not. The scores on the KCAASS Knowledge and Comfort of professionals who received a question about sexuality or addressed the issue of sexuality were significantly higher than those of professionals who did not. Sexuality is thus only scantly discussed by professionals working with patients with an ULD. Professionals indicated they do not feel confident nor comfortable enough to address this issue. They also experience a lack of appropriate knowledge to address sexuality with patients. Professionals reported a need for courses and training on both knowledge and conversation skills concerning sexuality. In addition, a protocol and necessary facilities need to be provided for the team working with people with an ULD in order to be able to address sexuality systematically.</p>