The Contribution of a Charitable Organization to Regional Cleft Lip and Palate Services in England and Scotland.

BACKGROUND: From diagnosis through to adulthood, a cleft lip and/or palate (CL/P) poses a number of challenges for those affected. Alongside the care provided by clinical teams, complementary information and support is offered by charitable organizations. In 2011, the Cleft Lip and Palate Association received funding to implement a new regional service across England and Scotland, with the aim of increasing support at a local level. The Centre for Appearance Research at the University of the West of England were commissioned to conduct an independent evaluation of the service over 7 years. METHODS: A pragmatic, mixed-methods approach was utilized to assess the impact of the service from the perspective of charity volunteers; children, young people, and adults with CL/P; caregivers; and clinicians. Feedback forms were distributed to stakeholders at a variety of events, and qualitative feedback was collected via focus groups and an online survey. RESULTS: The majority of participants indicated they had gained access to a local support network, felt more able to cope with CL/P-related challenges, and felt more confident in themselves. Qualitative investigation provided further support for these findings and highlighted additional benefits of the regional service for clinical teams. CONCLUSIONS: The evaluation provides encouraging evidence toward the contribution of a relatively small charitable organization in the context of cleft care. The importance of a pragmatic approach to community-based evaluation and the benefits of collaborative working between researchers and the charitable sector were also highlighted.

The Experiences and Support Needs of Grandparents of Children Born With Cleft Lip and/or Palate.

OBJECTIVE: The birth of a child with a cleft lip and/or palate (CL/P) can have a significant emotional and social impact on parents. Yet, the impact on the wider family is rarely investigated. Grandparents are becoming increasingly involved in the care of their grandchildren and may therefore have support needs of their own. The aim of the current study was to explore the experiences and support needs of grandparents of children born with CL/P. DESIGN: Individual semistructured telephone interviews were carried out with 12 grandparents of children born with CL/P and were analyzed using inductive thematic analysis. RESULTS: Five themes were identified (1) emotional impact of CL/P on grandparents, (2) grandparents' social experiences, (3) grandparents' involvement, (4) grandparents' information needs, and (5) grandparents' support needs. Participants experienced difficult emotions around the time of diagnosis and were concerned about the child's treatment and future experiences. Participants played a significant role in supporting the whole family, but received little information or support themselves. CONCLUSIONS: Grandparents reported experiences comparable to published literature on parents. Clinicians and charitable organizations could consider how existing resources could be made more accessible to and/or adapted for wider family members, including grandparents.

Complete Genome Sequences of Streptomyces Bacteriophages Annihilus, TonyStarch, Thiqqums, CricKo, ClubPenguin, RosaAsantewaa, and PherryCruz.

Seven siphoviruses were isolated from soil using Streptomyces hosts. Their genome sequences ranged from 42,730 to 57,624 bp long and had a GC content of approximately 60%. Based on their gene content similarity to actinobacteriophages, all seven phages were assigned to cluster BI. For several of these phages, multiple ribosomal frameshifts were identified.

A population study of Lesch-Nyhan disease in the UK.

AIM: The aims of this study were to identify all people with Lesch-Nyhan disease (LND) born in the UK between 1988 and 2008, and to obtain a clinical profile including age at diagnosis, genetic background, family history, neurological signs, and medications. METHOD: Potential participants were contacted through the British Paediatric Neurology Surveillance Unit. Questionnaires were sent to each child's paediatric neurologist or primary consultant. Two purine laboratories provided metabolic information. RESULTS: Twenty-three live males with LND in the 0- to 20-year age band and eight live males over the age of 20 years were identified. Thirty-one live people with LND were identified in the UK in 2008, giving a prevalence of 1 in 2 million people. Over the 20 years of study, there was a mean incidence rate of 0.18 per 100 000 live births, range 0 to 0.5. INTERPRETATION: To our knowledge, this study is the first to provide details of the prevalence and incidence of LND in the UK. The data highlight that clinical profiles, at the time of diagnosis, and management of the disease are variable. There is the need for ongoing monitoring of allopurinol dosage and metabolic screening.

Uptake of clinical trials in a palliative care setting: a retrospective cohort study.

AIM: There has been growth in the number of clinical trials conducted in the palliative care setting. However, issues exist regarding patient acceptance and vulnerability as well as the appropriateness of conducting trials in the dying patient. This study aimed to investigate the uptake of palliative care clinical trials at the Royal Melbourne Hospital, evaluate patient demographics for those enrolled onto study and assess the proportion of patients who died within 28 days of enrolling on a palliative care clinical trial. METHOD: A retrospective cohort study of all patients prescreened and enrolled onto palliative care clinical trials by the Palliative Care Clinical Trials Team (PCCTT) at the Royal Melbourne Hospital over a 27-month period was undertaken. RESULTS: Of 515 patients referred to the PCCTT for consideration of trial enrollment, 64 (12.4%) were subsequently enrolled onto one of six clinical trials open during the study period. About 62.5% were non-cancer patients; 81.3% of all patients completed the trial intervention and 65.6% completed trial follow-up; 28.1% of patients enrolled died within 28 days of trial commencement. CONCLUSION: More than 500 patients were referred for assessment of clinical trial participation perhaps reflecting clinician acceptance of palliative care clinical trials. A number of enrolled patients were involved in trials during their terminal phase, indicating a willingness of participants to be involved, despite poor prognosis.

Medical diagnosis, management and treatment of Lesch Nyhan disease.

The aim of this presentation is to inform about Lesch Nyhan Disease from the point of view of the affected boys and their families living with the condition from day to day and also to show the importance of research in treating and managing the disease (In Caring for Children with Lesch Nyhan Disease--A Guide for Parents and Professionals; McCarthy, G.T., Ed.; PUMPA and Chailey Heritage Clinical Services: East Sussex, UK, 2002).

Who, why and when: stroke care unit patients seen by a palliative care service within a large metropolitan teaching hospital.

OBJECTIVES: To investigate factors associated with referral of patients from an Australian stroke care unit (SCU) to an inpatient palliative care service (PCS). METHODS: This retrospective observational cohort study included patients who were referred to the PCS after SCU admission between 1 January and 31 December 2008. Variables measured included patient demographics, premorbid functional status, premorbid living situation, stroke type, history of previous stroke and discharge outcomes. Group differences between all SCU patients seen and not seen by the PCS were compared using univariate analyses. Multivariate logistic regression analysis was undertaken to identify factors associated with PCS involvement. Group differences were also compared between deceased stroke patients seen and not seen by the PCS. RESULTS: 544 patients were admitted to the SCU during the study period with 62 (11.4%) referred to the PCS. Assistance with end-of-life care was the commonest reason for referral. From univariate analyses, factors significantly associated with PCS involvement included age, gender, premorbid modified Rankin score, living situation prior to stroke and stroke type. Factors predicting PCS involvement for SCU patients from logistic regression were: increasing age, higher premorbid modified Rankin score and haemorrhagic stroke. 87 (16.0%) SCU patients died during their admission, with 49 (56.3%) seen by PCS. Deceased patients seen were significantly older, more disabled premorbidly and lived significantly longer. CONCLUSIONS: This study indicates there are patient and condition-level factors associated with referral of stroke patients to PCS. It highlights factors that might better stratify hospitalised stroke patients to timely palliative care involvement, and adds an Australian perspective to limited data addressing this patient population.

Transmission of HIV in the dental clinic and elsewhere.

This review focuses on the risk of transmission of HIV in dental practice in developed and developing countries; and as a result of oral sex, perinatal transmission and breast feeding. Postexposure prophylaxis (PEP) and practical measures to control cross-infection with TB are also discussed. There are few data from resource-poor countries where prevalence of HIV and risk of infection are higher--issues that deserve priority. Available information indicates that the risk of HIV transmission in the dental office is very low. Transmission of HIV from three healthcare workers to patients has been confirmed, including a dentist who infected six patients. There are >300 reports (102 confirmed) of occupational transmission to healthcare workers, including nine dental workers (unconfirmed). Exposure to HIV has been reported by 0.5% dentists/year. The risk of HIV infection after percutaneous exposure (0.3%) can be reduced by 81% with zidovudine PEP. However, risk assessment is required to assess the need and appropriate regimen. The risk of HIV transmission associated with orogenital sex exists, but is considered extremely low: barrier protection is recommended. Conversely, the proportion of babies who acquire HIV from untreated HIV-seropositive mothers is 15-25% in developed countries and 25-45% in developing countries. The frequency of HIV transmission attributable to breastfeeding is 16%. Airborne transmission of TB can be avoided by the prompt referral of known/suspected cases of active TB for chemotherapy, deferral of elective procedures until patients are not infectious, and the use of appropriate standard/isolation precautions including adequate ventilation of treatment areas.