Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Isolated congenital asplenia (ICA) is characterized by the absence of a spleen at birth in individuals with no other developmental defects. The patients are prone to life-threatening bacterial infections. The unbiased analysis of exomes revealed heterozygous mutations in RPSA in 18 patients from eight kindreds, corresponding to more than half the patients and over one-third of the kindreds studied. The clinical penetrance in these kindreds is complete. Expression studies indicated that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five different missense mutations-cause autosomal dominant ICA by haploinsufficiency. RPSA encodes ribosomal protein SA, a component of the small subunit of the ribosome. This discovery establishes an essential role for RPSA in human spleen development.

The fifth UK paediatric diabetes services survey: meeting guidelines and recommendations?

AIM: To assess the provision of UK paediatric and adolescent diabetes services and examine changes in service delivery since 2002. METHOD: Questionnaires were sent to the lead paediatric consultant from all paediatric and adolescent diabetes services (n=205). Questions were based on National Institute for Health and Clinical Excellence and Scottish Intercollegiate Guidelines recommendations for diabetes care in childhood. Results were analysed using parametric and non-parametric tests. RESULTS: 129 Services (63%) returned questionnaires involving 220 clinics. Staffing has improved and 98% of consultants have a special interest in diabetes (89%, 2002). In 88% of services, the diabetes specialist nurse worked solely in paediatric diabetes (53%, 2002). Only 21% of clinics have a psychological professional integrated within the diabetes team (20%, 2002). Over 94% of services offered support with intensive insulin regimens causing problems at school for 36% of services. Almost all services offer annual microvascular screening (98-100%) but transitional care was variable; only 76% of services have specific local protocols for transition and 21% organise transfer by letter only. CONCLUSION: Paediatric and adolescent diabetes services are rising to the challenge of providing high-quality care despite rising prevalence and increasingly complex insulin regimes. Services have improved in a number of key areas but serious deficiencies remain.

The conflict between specialist diabetes services and acute-general internal medicine for consultant diabetologists in the UK in 2006.

An online survey of consultant diabetologists in the UK examined the interface between specialist services and acute-general internal medicine (acute-GIM). Out of 592 consultants, 289 (49%) responded. Of these, 94% contributed to acute-GIM, devoting equivalent time to acute-GIM and specialist diabetes services. Of the respondents, 10% provided a single-handed specialist service and 78% provided endocrine services. The survey found the input to acute-GIM was increasing, partly because other specialties were opting out. The increased commitment to acute-GIM compromised specialist diabetes activity through reduced consultant and training-grade time for outpatient activity and service development. The shift to primary care of chronic disease led to further conflict between acute-GIM and delivery of a specialist service, given the current systems for provision of consultant-led care. The large number of specialist trainees in diabetes and endocrinology will require innovative commissioning mechanisms that reflect the need to sustain and develop specialist diabetes and endocrine care in the appropriate settings as well as the continued input in acute trusts for acute-GIM.

A system of electronic records developed by a children's hospice.

This paper describes the development, implementation and dissemination of an electronic data collection system for children's hospices in the UK. In 1999, CHASE Hospice Care for Children (CHASE) began providing support for life-limited children and their families in their own homes across south-west London, Surrey and West Sussex. CHASE community team is multidisciplinary and original members of the team had to create all of the necessary administrative systems for collecting and storing information about referrals and care provided to children and their families. The community team had the foresight to record activity statistics from day one of the service. The team worked together to identify information routinely collected that could usefully be stored on a computer database and a simple solution was created for this purpose using Microsoft Access version 2. CHASE was in a privileged position because the commitment to use information technology came from people providing care to children and their families.