Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

BHPR research: qualitative1. Complex reasoning determines patients' perception of outcome following foot surgery in rheumatoid arhtritis

Background: Foot surgery is common in patients with RA but research into surgical outcomes is limited and conceptually flawed as current outcome measures lack face validity: to date no one has asked patients what is important to them. This study aimed to determine which factors are important to patients when evaluating the success of foot surgery in RA Methods: Semi structured interviews of RA patients who had undergone foot surgery were conducted and transcribed verbatim. Thematic analysis of interviews was conducted to explore issues that were important to patients. Results: 11 RA patients (9 ♂, mean age 59, dis dur = 22yrs, mean of 3 yrs post op) with mixed experiences of foot surgery were interviewed. Patients interpreted outcome in respect to a multitude of factors, frequently positive change in one aspect contrasted with negative opinions about another. Overall, four major themes emerged. Function: Functional ability & participation in valued activities were very important to patients. Walking ability was a key concern but patients interpreted levels of activity in light of other aspects of their disease, reflecting on change in functional ability more than overall level. Positive feelings of improved mobility were often moderated by negative self perception ("I mean, I still walk like a waddling duck”). Appearance: Appearance was important to almost all patients but perhaps the most complex theme of all. Physical appearance, foot shape, and footwear were closely interlinked, yet patients saw these as distinct separate concepts. Patients need to legitimize these feelings was clear and they frequently entered into a defensive repertoire ("it's not cosmetic surgery; it's something that's more important than that, you know?”). Clinician opinion: Surgeons' post operative evaluation of the procedure was very influential. The impact of this appraisal continued to affect patients' lasting impression irrespective of how the outcome compared to their initial goals ("when he'd done it ... he said that hasn't worked as good as he'd wanted to ... but the pain has gone”). Pain: Whilst pain was important to almost all patients, it appeared to be less important than the other themes. Pain was predominately raised when it influenced other themes, such as function; many still felt the need to legitimize their foot pain in order for health professionals to take it seriously ("in the end I went to my GP because it had happened a few times and I went to an orthopaedic surgeon who was quite dismissive of it, it was like what are you complaining about”). Conclusions: Patients interpret the outcome of foot surgery using a multitude of interrelated factors, particularly functional ability, appearance and surgeons' appraisal of the procedure. While pain was often noted, this appeared less important than other factors in the overall outcome of the surgery. Future research into foot surgery should incorporate the complexity of how patients determine their outcome Disclosure statement: All authors have declared no conflicts of interes

Evaluation of Perivascular Adhesion Formation in New Zealand White Rabbits Using Oxiplex and DuraSeal Xact Adhesion Barrier System.

BACKGROUND: Adhesion formation after spine surgery is a result of normal wound healing that may place patients at increased risk for complications during revision surgery. Preventing adhesions could reduce the risk of complications during revision surgery, and possibly reduce the need for revision procedures. This study evaluates the ability of DuraSeal Xact Adhesion Barrier System (DSX) (Covidien, Mansfield, Massachusetts) and Oxiplex/SP gel (OX) (FzioMed, San Luis Obispo, California) to affect the extent and severity of postoperative perivascular adhesion development in an anterior spinal surgical rabbit model. METHODS: We determined the extent and severity of postoperative adhesion development 34 days after surgery in 12 male New Zealand White rabbits randomly assigned to intraoperative treatment with either DSX or OX, or to an untreated control group. Adhesion severity and extent were scored on scale from 0 (none) to 3 (severe). RESULTS: The extent and severity of adhesions in the DSX group were significantly less than in the untreated control group. The DSX group mean extent score was 1.3 ± 0.5 (vs 2.5, P = .01) and the mean severity score was 1.25 ± 0.5 (vs 2.8, P = .005). The extent and severity of adhesions in the OX group were not significantly different from the control group. CONCLUSION: In this study, we found DSX to be the most effective compound in preventing adhesion formation after anterior spine surgery. CLINICAL RELEVANCE: Extrapolating these results in rabbits to humans, less scarring between the major blood vessels could decrease the rate of complications in revision spine procedures

Differences in dimensions of satisfaction with private and public dental care among children

Copyright © 2001 F D I World Dental PressUnlabelledMeasures of patient satisfaction have application in understanding patient behaviour, and in evaluating dental providers, services, and facilities. Further, differences in delivery systems may be reflected in variation between the component dimensions of satisfaction.AimThe aim of this study was to compare perceptions of satisfaction with care provided by the School Dental Service (SDS) and private dentists.DesignA three-stage cross-sectional survey was conducted during 1993-94. This analysis is based on Stage 2 of the study (n=2,792 participants, response rate=78.0%).SettingSchools in metropolitan Adelaide, South Australia.ParticipantsParents and schoolchildren.Interventions/methodsMailed self-complete questionnaires.Main outcome measuresThe Dental Satisfaction Index (DSI) and component subscales.ResultsOverall satisfaction using the DSI showed no significant difference between SDS users and users of private dental care. Parents of children using the SDS had lower satisfaction scores for 'general satisfaction', 'quality', 'access', and 'continuity', but had higher satisfaction scores for the dimensions of 'cost' and 'availability' (OLS regression; PConclusionsOverall satisfaction was high and did not vary by provider group, but there was variation in the component dimensions of satisfaction.http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&uid=11569667&cmd=showdetailview&indexed=googl

Hazard of household cleaning products: A study undertaken by the UK National Poisons Information Service

Objective. To ascertain the reported toxicity of current United Kingdom (UK) household products following the launch of new products, such as liquid detergent capsules, and the manufacture of more concentrated formulations. Methods. Between 1 March 2008 and 30 April 2009 the UK National Poisons Information Service (NPIS) collected prospectively 5939 telephone enquiries relating to household products, approximately 10% of all telephone enquiries received over this period. Results. The majority of enquiries (n = 3893; 65.5%) concerned children 5 years of age or less and were received predominantly from hospitals (n = 1905; 32.1%), general practitioners (n = 1768; 29.8%) and NHS Direct/NHS 24 (n = 1694; 28.5%). The majority of exposures occurred at home (n = 5795; 97.6%); most exposures were accidental (n = 5561; 93.6%). Liquid detergent capsules were most commonly involved (n = 647), followed by bleaches (n = 481), air fresheners (n = 429), multipurpose cleaners (n = 408), dishwasher products (n = 399) and descalers (n = 397). Exposure to household products occurred mainly as a result of ingestion (n = 4616; 75.8%), with eye contact (n = 513; 8.4%), inhalation (n = 420; 6.9%) and skin contact (n = 187; 3.1%) being less common; 5.1% (n = 313) of enquiries involved multiple routes of exposure. The most commonly reported features were vomiting (ingestion), pain (eye contact), dyspnoea (inhalation) and burns (skin contact). In 5840 of 5939 enquiries the Poisoning Severity Score (PSS) was known. The majority of patients (n = 4117; 70.5%) were asymptomatic (PSS 0), 28.0% (n = 1638) developed minor features (PSS 1), 1.3% (75 patients) developed moderate features (PSS 2) and 0.15% (nine patients) developed serious features (PSS 3). Four of these nine patients made a complete recovery, two died from exposure to drain cleaner and PVC solvent cleaner; the outcome in three was unknown. Conclusion. In the UK, advice from the NPIS is sought commonly regarding household products, but such exposures only rarely result in clinically serious features. As 65.5% of exposures were in children less than 5 years of age, parents clearly have an important role to play in ensuring that household products are stored safely at all times