Patient Information Leaflet Feedback on Delusional Infestation.

BACKGROUND: Delusional parasitosis, also known as Ekbom syndrome, is a poorly understood condition often surrounded by misinformation. Patients and their families frequently encounter skepticism regarding their experiences. This research aimed to create a patient information leaflet (PIL) with a patient centred approach and to gather feedback on its usefulness for sharing information and validating their experiences. OBJECTIVE: To evaluate patient feedback on a newly developed PIL designed for individuals with delusional parasitosis, assessing its perceived usefulness and impact. METHODS: A survey was administered to 18 patients before their appointments, incorporating the new PIL. The survey included questions on the leaflet's clarity, usefulness, ability to validate patient experiences and other pointers, measured on a 10-point Likert scale (0 = No answer, 1 = Strongly Disagree, 10 = Strongly Agree). Data was analysed using descriptive statistics and factor analysis. Additionally, the final question allowed for written feedback, which was examined through thematic analysis. RESULTS: The survey results revealed that the majority of patients were satisfied with the new PIL. Specifically, 94% agreed or strongly agreed that the leaflet was logical and easy to follow, 72% found it useful for understanding their condition, and 89% felt it validated their experiences. Mean scores for these concepts were 8.83, 7.61, and 7.78, respectively. Thematic analysis of written feedback highlighted themes of improved understanding but uncertainty around acknowledgement of experiences. CONCLUSION: This new patient-centered PIL for delusional parasitosis was well-received, indicating its potential as a valuable tool for patients and their support networks. By addressing the specific needs and experiences of patients, the leaflet can improve communication and reduce the stigma associated with the condition. Future research should explore long-term impacts and the effectiveness of similar resources in other patient populations.

CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis.

BACKGROUND: Tuberculosis is a major infectious disease and functional studies have provided evidence that both the chemokine MIP-1α and its receptor CCR5 play a role in susceptibility to TB. Thus by measuring copy number variation of CCL3L1, one of the genes that encode MIP-1α, and genotyping a functional promoter polymorphism -2459A > G in CCR5 (rs1799987) we investigate the influence of MIP-1α and CCR5, independently and combined, in susceptibility to clinically active TB in three populations, a Peruvian population (n = 1132), a !Xhosa population (n = 605) and a South African Coloured population (n = 221). The three populations include patients with clinically diagnosed pulmonary TB, as well as other, less prevalent forms of extrapulmonary TB. METHODS AND RESULTS: Copy number of CCL3L1 was measured using the paralogue ratio test and exhibited ranges between 0-6 copies per diploid genome (pdg) in Peru, between 0-12 pdg in !Xhosa samples and between 0-10 pdg in South African Coloured samples. The CCR5 promoter polymorphism was observed to differ significantly in allele frequency between populations (*A; Peru f = 0.67, !Xhosa f = 0.38, Coloured f = 0.48). CONCLUSIONS: The case-control association studies performed however find, surprisingly, no evidence for an influence of variation in genes coding for MIP-1α or CCR5 individually or together in susceptibility to clinically active TB in these populations.

Biliary cirrhosis in a child with inherited interleukin-12 deficiency.

Interleukin-12 (IL-12) is a key cytokine in the defense against intracellular bacteria notably Mycobacteria and Salmonella species. We report a case of disseminated mycobacterial infection, following BCG vaccination, in a child who later developed tuberculosis. Functional tests and a novel diagnostic polymerase chain reaction (PCR) assay, revealed a loss-of-function deletion in the IL12 gene. Analysis of samples from the parents and siblings of the patient indicated an autosomal recessive inheritance pattern with varying degrees of phenotypic expression in identical genotypes. Interferon-gamma (IFN-gamma) therapy was associated with marked clinical improvement. Biliary cirrhosis, a hitherto unreported complication of IL-12 deficiency, developed later and required liver transplantation. A defect in the IL-12-IFN-gamma pathway should be suspected in patients presenting with multiple, repeated or persistent infection with intracellular bacteria. The diagnostic work-up and the immuno-genetic assay described here can aid in the quick and reliable diagnosis of IL-12 deficiency resulting from genetic defects and its subsequent management.