410 research outputs found
Exercise Beliefs and Behaviours of Individuals with Joint Hypermobility Syndrome/ Ehlers Danlos Syndrome-Hypermobility Type
This is an Accepted Manuscript of an article published by Taylor & Francis Group in Disability & Rehabilitation on 10 November 2017, available online at: https://doi.org/10.1080/09638288.2017.1398278. © 2017 Informa UK Limited, trading as Taylor & Francis GroupPurpose: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers–Danlos syndrome – hypermobility type and to explore patient experiences of physiotherapy.Methods: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers–Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically.Results: 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30–2.36, p < 0.001) than those with no advice. Participants who believed that exercise is important for long-term management were 2.76 times more likely to report a high volume of weekly exercise compared to the participants who did not hold this belief (OR = 2.76, 95% CI = 1.38–5.50, p = 0.004). Three themes emerged regarding experience of physiotherapy; physiotherapist as a partner, communication – knowledge, experience and safety.Conclusion: Pain, fatigue and fear are common barriers to exercise. Advice from a physiotherapist and beliefs about the benefits of exercise influenced the reported exercise behaviours of individuals with Ehlers–Danlos syndrome – hypermobility type in this survey.Peer reviewe
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some cases the underlying tumor is not detected, and such patients may harbor other causes of FGF23 excess. Indeed, coding-region and 3’UTR mutations of phosphate-regulating neutral endopeptidase (PHEX), which encodes a cell-surface protein that regulates circulating FGF23 concentrations, can lead to alterations in phosphate homeostasis, which are not detected until adulthood. Here, we report an adult female who presented with hypophosphatemic osteomalacia and raised serum FGF23 concentrations. The patient and her parents, who were her only first-degree relatives, had no history of rickets. The patient was thus suspected of having TIO. However, no tumor had been identified following extensive localization studies. Mutational analysis of the PHEX coding-region and 3’UTR was undertaken, and this revealed the patient to be heterozygous for a novel germline PHEX mutation (c.2158G>T; p.Ala720Ser). In vitro studies involving the expression of WT and mutant PHEX proteins in HEK293 cells demonstrated the Ala720Ser mutation to impair trafficking of PHEX, with 80% cell surface expression for WT PHEX (p<0.05). Thus, our studies have identified a pathogenic PHEX mutation in a sporadic case of adult-onset hypophosphatemic osteomalacia, and these findings highlight a role for PHEX gene analysis in some cases of suspected TIO, particularly when no tumor has been identified
Transforming Research to Practice Change: Standards for Reporting Implementation Studies (StaRI) Guidelines
Severe progressive scoliosis due to huge subcutaneous cavernous hemangioma: A case report
Cavernous hemangioma consists mainly of congenital vascular malformations present before birth and gradually increasing in size with skeletal growth. A small number of patients with cavernous hemangioma develop scoliosis, and surgical treatment for the scoliosis in such cases has not been reported to date. Here we report a 12-year-old male patient with severe progressive scoliosis due to a huge subcutaneous cavernous hemangioma, who underwent posterior correction and fusion surgery. Upon referral to our department, radiographs revealed a scoliosis of 85° at T6-L1 and a kyphosis of 58° at T4-T10. CT and MR images revealed a huge hemangioma extending from the subcutaneous region to the paraspinal muscles and the retroperitoneal space and invading the spinal canal. Posterior correction and fusion surgery using pedicle screws between T2 and L3 were performed. Massive hemorrhage from the hemangioma occurred during the surgery, with intraoperative blood loss reaching 2800 ml. The scoliosis was corrected to 59°, and the kyphosis to 45° after surgery. Seven hours after surgery, the patient suffered from hypovolemic shock and disseminated intravascular coagulation due to postoperative hemorrhage from the hemangioma. The patient developed sensory and conduction aphasia caused by cerebral hypoxia during the shock on the day of the surgery. At present, two years after the surgery, although the patient has completely recovered from the aphasia. This case illustrates that, in correction surgery for scoliosis due to huge subcutaneous cavernous hemangioma, intraoperative and postoperative intensive care for hemodynamics should be performed, since massive hemorrhage can occur during the postoperative period as well as the intraoperative period
Oncogenic osteomalacia associated with mesenchymal tumor in the middle cranial fossa: a case report
Use of native type i collagen matrix plus polyhexamethylene biguanide for chronic wound treatment
© 2019 Lippincott Williams and Wilkins.All right reserved. Background: Chronic wounds represent a significant financial burden to the healthcare system and a quality-of-life burden to patients. Many chronic wounds have elevated bioburden in the form of biofilm, which has been associated with delayed wound healing. This study examined the use of a native type I collagen matrix with the antimicrobial polyhexamethylene biguanide (PCMP) in the management of bioburden and treatment of chronic, nonhealing wounds over 12 weeks. Methods: A prospective case series of PCMP enrolled adults ≥18 years old with a nonhealing wound. At week 0, the wound was prepared by sharp or mechanical debridement. Patients received standard wound care plus PCMP applications at week 0 and then weekly up to week 12 at the investigator\u27s discretion. Dressings were applied over PCMP to fix it in place. At each visit, wounds were assessed for the extent of healing and signs of wound infection. Results: Of the 41 wounds studied, 44% were pressure ulcers, 22% were surgical wounds, 12% were venous ulcers, 10% were diabetic ulcers, and 12% were another type. The median (interquartile range) baseline wound area was 7.2 (14.9) cm 2 , and the mean wound duration was 103 weeks. Of the 41 wounds, 73% demonstrated a reduction in wound area at 12 weeks, and 37% achieved complete wound closure, with a mean time of 6.7 weeks to complete closure. Conclusion: PCMP treatment appeared to positively impact the course of wound healing in a variety of complex, chronic wounds that were unresponsive to prior treatment
Rare musculoskeletal diseases in adults: a research priority setting partnership with the James Lind Alliance
Background
Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients. This partnership adopted the James Lind Alliance approach to identify the top 10 research priorities for rare musculoskeletal diseases in adults through joint patient, carer and healthcare professional collaboration.
Results
The initial survey for question collection recruited 198 respondents, submitting a total of 988 questions. 77% of the respondents were patients with a rare musculoskeletal disease. Following out-of-scope question exclusion, repeating query grouping and scientific literature check for answers, 39 questions on treatment and long-term management remained. In the second public survey, 220 respondents, of whom 85% were patients with a rare musculoskeletal disease, their carers, relatives or friends, prioritised these uncertainties, which allowed selection of the top 25. In the last stage, patients, carers and healthcare professionals gathered for a priority setting workshop to reach a consensus on the final top 10 research priorities. These focus on the uncertainties surrounding appropriate treatment and holistic long-term disease management, highlighting several aspects indirect to abnormal bone metabolism, such as extra-skeletal symptoms, psychological care of both patients and their families and disease course through ageing.
Conclusions
This James Lind Alliance priority setting partnership is the first to investigate rare bone diseases. The priorities identified here were developed jointly by patients, carers and healthcare professionals. We encourage researchers, funding bodies and other stakeholders to use these priorities in guiding future research for those affected by rare musculoskeletal disorders
Magnesium deficiency: effect on bone mineral density in the mouse appendicular skeleton
BACKGROUND: Dietary magnesium (Mg) deficiency in the mouse perturbs bone and mineral homeostasis. The objective of the present study was to evaluate bone mineral density of the femur in control and Mg-deficient mice. METHODS: BALB/c mice aged 28 days at study initiation were maintained on a normal or Mg deficient (0.0002% Mg) diet, and at time points 0, 2, 4 or 6 weeks bones were harvested for bone mineral density analysis. Peripheral quantitative computed tomography (pQCT) was used to assess the trabecular metaphyseal compartment and the cortical midshaft. RESULTS: Although mean total bone density of the femoral midshaft in Mg deficient mice did not differ significantly from controls throughout the study, the trabecular bone compartment showed significantly decreased mineral content after 4 (p < 0.001) and 6 weeks (p < 0.001) of Mg depletion. CONCLUSIONS: This study demonstrates the profound effect of Mg depletion on the trabecular compartment of bone, which, with its greater surface area and turnover, was more responsive to Mg depletion than cortical bone in the appendicular skeleton of the mouse
MOA-2016-BLG-227Lb: A Massive Planet Characterized by Combining Light-curve Analysis and Keck AO Imaging
We report the discovery of a microlensing planet—MOA-2016-BLG-227Lb—with a large planet/host mass ratio of q ≃ 9 × 10−3. This event was located near the K2 Campaign 9 field that was observed by a large number of telescopes. As a result, the event was in the microlensing survey area of a number of these telescopes, and this enabled good coverage of the planetary light-curve signal. High angular resolution adaptive optics images from the Keck telescope reveal excess flux at the position of the source above the flux of the source star, as indicated by the light-curve model. This excess flux could be due to the lens star, but it could also be due to a companion to the source or lens star, or even an unrelated star. We consider all these possibilities in a Bayesian analysis in the context of a standard Galactic model. Our analysis indicates that it is unlikely that a large fraction of the excess flux comes from the lens, unless solar-type stars are much more likely to host planets of this mass ratio than lower mass stars. We recommend that a method similar to the one developed in this paper be used for other events with high angular resolution follow-up observations when the follow-up observations are insufficient to measure the lens–source relative proper motion
- …