One thousand and ninety human immunodeficiency virus (HIV)-positive homosexual or bisexual males were seen in one hospital for management of HIV disease over a 9-year period. One hundred and fifty-five patients were referred by acquired immunodeficiency syndrome (AIDS) physicians for general surgical management. The most frequent reason for surgical referral (64 patients) was anorectal disease which occurred in 5.9 per cent of all HIV-positive patients. One or more diagnoses were reached in 61 of the 64 patients referred with anorectal disease: warts (38 per cent of diagnoses), anorectal ulceration (26 per cent), perianal sepsis (15 per cent), neoplasia (14 per cent) and haemorrhoidal disease (8 per cent). Anorectal symptoms were relieved in 68 per cent of patients and the median survival of those treated was 17.5 months from the time of surgical referral. Both warts and perianal sepsis were associated with in situ neoplasia, but no case of progression from in situ to invasive anal squamous carcinoma was detected. The aetiology of anorectal ulcers was not clear, but surgical excision of anal ulcers and skin tags can produce healing. Palliation of anorectal symptoms in HIV-positive homosexual patients is possible but some conditions are unusual and surgeons should be familiar with their presentation and management.
This article compares and contrasts paediatric and adult palliative care, two specialties which are commonly rooted in the need to provide high-quality holistic care for life-limited patients. It explores how professionals can work together to meet the needs of young people transitioning from paediatric to adult health-care systems.
BackgroundChildren with complex care needs are a growing proportion of the sick children seen in all healthcare settings in the UK. Complex care needs place demands on parents and professionals who often require many different healthcare teams to work together. Care can be both materially and logistically difficult to manage, causing friction with parents. These difficulties may be reduced if common best practice standards and approaches can be developed in this area.ObjectiveTo develop a consensus approach to the management of complexity among healthcare professionals, we used a modified Delphi process. The process consisted of a meeting of clinical leaders to develop candidate statements, followed by two survey rounds open to all professionals in a UK children’s hospital to measure and establish consensus recommendations.ResultsNinety-nine professionals completed both rounds of the survey, 69 statements were agreed. These pertained to seven thematic areas: standardised approaches to communicating with families; processes for interprofessional communication; processes for shared decision-making in the child’s best interests; role of the multidisciplinary team; managing professional–parental disagreement and conflict; the role of clinical psychologists; and staff support. Overall, the level of consensus was high, ranging from agreement to strong agreement.ConclusionsThese statements provide a consensus basis that can inform standardised approaches to the management of complexity. Such approaches may decrease friction between parents, children and healthcare professionals.
Background Although splicing is an integral part of the expression of many genes in our body, genetic syndromes with spliceosomal defects affect only specific tissues. To help understand the mechanism, we investigated the expression pattern of a core protein of the major spliceosome, SmB/B′ (Small Nuclear Ribonucleoprotein Polypeptides B/B′), which is encoded by SNRPB. Loss‐of‐function mutations of SNRPB in humans cause cerebro‐costo‐mandibular syndrome (CCMS) characterized by rib gaps, micrognathia, cleft palate, and scoliosis. Our expression analysis focused on the affected structures as well as non‐affected tissues, using chick and mouse embryos as model animals. Results Embryos at young stages (gastrula) showed ubiquitous expression of SmB/B′. However, the level and pattern of expression became tissue‐specific as differentiation proceeded. The regions relating to CCMS phenotypes such as cartilages of ribs and vertebrae and palatal mesenchyme express SmB/B′ in the nucleus sporadically. However, cartilages that are not affected in CCMS also showed similar expressions. Another spliceosomal gene, SNRNP200, which mutations cause retinitis pigmentosa, was also prominently expressed in cartilages in addition to the retina. Conclusion The expression of SmB/B′ is spatiotemporally regulated during embryogenesis despite the ubiquitous requirement of the spliceosome, however, the expression pattern is not strictly correlated with the phenotype presentation.
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