Increasing the Detection of Familial Hypercholesterolaemia Using General Practice Electronic Databases.

BACKGROUND: Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10-15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice OBJECTIVE: To determine whether a simple electronic extraction tool can increase detection of FH in general practice. METHOD: An extraction tool applied to general practice electronic health records (EHR) to screen for FH, total cholesterol and low density lipoprotein cholesterol (LDL-c) levels in association with entered diagnostic criteria and demographic data in five general practices. RESULTS: Of 157,290 active patients examined, 0.7% (n=1081) had an LDL-c>5.0 mmol/L representing 1 in 146 of active patients. An additional 0.8% (n=1276) patients were at possible risk of FH. Of those with an LDL-c>5.0 mmol/L 43.7% of patients had no record of being prescribed statins. Twenty patients (0.013%) had a clinical diagnosis of FH entered in the EHR. CONCLUSIONS: Patients at high risk of FH can be identified by a simple electronic screening method in general practice. Clinical data entry is variable in general practice. Targeted screening enables clinical assessment of patients at risk of cardiovascular disease and using the DLCNS will enable primary care to increase identification of FH. Approximately one in five patients extracted using this method, are likely to have phenotypically probable FH, making it a useful screening tool.

Radiological measurements of the feet of normal Straight Egyptian Arabian horses in Qatar.

The Arabian horse has been identified as carrying a risk locus for equine metabolic syndrome, predisposing this breed to development of laminitis. Radigraphy of the equine foot is widely considered the main diagnostic imaging technique for evaluation of the laminitic horse. Knowledge of 'normal' breed values allows assessment of the degree and severity of radiological changes associated with laminitis. The objective of this study was to investigate the normal values for radiological measurements of the feet of the Straight Egyptian Arabian horse in Qatar. The design was a clinical prospective study. Radiographs of the fore and hind feet of 10 clinically normal adult Straight Egyptian Arabian horses were taken. On the lateromedial views, 17 measurements were taken (13 distances and four angles). On the horizontal dorsopalmar/plantar views, two measurements were taken. On the dorsal 45 degree, proximo-palmarodistal oblique projections, four measurements were taken. Normal reference ranges were reported for radiological measurements of the feet of the Straight Egyptian Arabian horse. Several variables showed significant differences between fore and hind feet, including hoof angle, distal wall thickness, and two proximal inner layer measurements (p < 0.05). In addition, the Straight Egyptian Arabian horse was found to have a number of measurements which varied from previously published reports. The results reported within provide a useful reference for normal radiographic measurements of the Straight Egyptian Arabian horse with relevance for laminitis.

Being able to be myself: Understanding autonomy and autonomy-support from the perspectives of autistic adults with intellectual disabilities.

LAY ABSTRACT: Autistic young adults with intellectual disabilities want to be autonomous but are less autonomous than other people. However, they can be autonomous with appropriate support. We wanted to learn how we can support autistic adults with intellectual disabilities to be more autonomous. We designed our study with help from five autistic community partners to make sure the research was relevant to autistic people and would improve their lives. We talked with eight autistic young adults with intellectual disabilities about autonomy. We defined "talk" as verbal language, as well as non-verbal cues such as body language, facial expressions, vocalizations, and laughter. We did art projects and played games while we talked. We met in small groups over multiple sessions. Our participants told us that being autonomous meant being able to be themselves. They told us three main ways to support their autonomy: (1) having choice and control, (2) being able to communicate in their own way, and (3) being in a safe environment. Families, support staff, and caregivers can use this information to help autistic young adults with intellectual disabilities to be autonomous.

Straight Egyptian Arabian skull morphology presents unique surgical challenges compared to the Thoroughbred: a computed tomography morphometric anatomical study.

OBJECTIVE: The objective of this study was to compare the skull morphology of the Straight Egyptian Arabian (SEAR) to the Thoroughbred (TB), using computed tomography (CT) in the context of surgical procedures commonly performed on the equine head. ANIMALS: Measurements relating to surgical considerations of the equine head were taken from 29 clinically normal adult horses (15 SEAR, 14 TB). PROCEDURES: A clinical prospective study. Standing skull CTs were performed. Fourteen gross and 10 CT measurements were taken. RESULTS: Several variables showed a significant difference between groups, in all cases greater in TB. Head length (P < .001) and facial crest length (P < .001) were significantly shorter in SEAR than TB. The head length was shorter relative to body height in SEAR (P < .001). The lateral length of a virtual maxillary bone flap was shorter in SEAR (P < .001). SEAR had smaller craniofacial angles than TB (P = .018). CLINICAL RELEVANCE: SEAR skull morphology differs significantly from TB, making surgical approaches potentially more challenging. Compared with TB, the shorter facial crest in the SEAR group could contribute to poor surgical access to the maxillary sinus in SEAR due to shorter maxillary flap lengths. Significant differences in the craniofacial angles between SEAR and TB suggest similarities between SEAR and brachycephalic dog breeds, warranting further investigation.

Updates to the Autism Intervention Research Network on Physical Health (AIR-P) Research Agenda.

INTRODUCTION: Autistic individuals, now representing one in 36 individuals in the U.S., experience disproportionate physical health challenges relative to non-autistic individuals. The Health Resources and Services Administration's (HRSA) Autism Intervention Research Network on Physical Health (AIR-P) is an interdisciplinary, multi-center Research Network that aims to increase the health, well-being, and quality of life of autistic individuals. The current paper builds on the initial AIR-P Research Agenda (proposed in Year 1) and provides an updated vision for the Network. METHODS: Updates to the Research Agenda were made via the administration of a Qualtrics survey, and disseminated widely to all AIR-P entities, including the Research Node Leaders, Steering Committee, Autistic Researcher Review Board, and collaborating academic and non-academic entities. Network members were tasked with evaluating the Year 1 Research Agenda and proposing additional priorities. RESULTS: Within each Research Node, all Year 1 priorities were endorsed as continued priorities for research on autism and physical health. Specific topics, including co-occurring conditions and self-determination, advocacy, and decision-making, were particularly endorsed. Opportunities for exploratory studies and intervention research were identified across Research Nodes. Qualitative responses providing feedback on additional research priorities were collected. CONCLUSION: The updated AIR-P Research Agenda represents an important step toward enacting large-scale health promotion efforts for autistic individuals across the lifespan. This updated agenda builds on efforts to catalyze autism research in historically underrepresented topic areas while adopting a neurodiversity-oriented approach to health promotion.

Randomised controlled trial of thermostatic mixer valves in reducing bath hot tap water temperature in families with young children in social housing: a protocol.

BACKGROUND: Each year in the UK 2000 children attend emergency departments and 500 are admitted to hospital following a bath water scald. The long term effects can include disability, disfigurement or psychological harm and repeated skin grafts may be required as the child grows. The costs of treating a severe scald are estimated at 250,000 GBP. Children living in the most deprived wards are at greatest risk of thermal injuries; hospital admission rates are three times that for children living in the least deprived wards.Domestic hot water, which is usually stored at around 60 degrees Celsius, can result in a second-degree burn after 3 seconds and a third-degree burn after 5 seconds. Educational strategies to encourage testing of tap water temperature and reduction of hot water thermostat settings have largely proved unsuccessful. Legislation in the USA mandating pre-setting hot water heater thermostats at 49 degrees Celsius was effective in reducing scald injuries, suggesting passive measures may have a greater impact. Thermostatic mixer valves (TMVs), recently developed for the domestic market, fitted across the hot and cold water supply pipes of the bath, allow delivery of water set at a fixed temperature from the hot bath tap. These valves therefore offer the potential to reduce scald injuries. DESIGN/METHODS: A pragmatic, randomised controlled trial to assess the effectiveness of TMVs in reducing bath hot tap water temperatures in the homes of families with young children in rented social housing. Two parallel arms include an intervention group and a control group where the intervention will be deferred.The intervention will consist of fitting a TMV (set at 44 degrees Celsius) by a qualified plumber and provision of educational materials. The control arm will not receive a TMV or the educational materials for the study duration but will be offered the intervention after collection of follow-up data 12 months post randomisation.The primary outcome measure will be the bath hot tap water temperature. Fifteen families per arm are required to detect a reduction in the mean bath hot tap water temperature from 60.4 degrees Celsius (SD 9.1) in the control group to 46 degrees Celsius in the intervention group, with 90% power and a 5% significance level (2 sided). Secondary outcome measures including acceptability will require a sample size of 120 participants. DISCUSSION: Whilst TMVs have the potential to reduce scald injuries, to date there have been no randomised controlled trials assessing their effectiveness, acceptability and cost effectiveness. TRIAL REGISTRATION: ISRCTN21179067.