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

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

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

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

CEO Compensation

This paper surveys the recent literature on CEO compensation. The rapid rise in CEO pay over the past 30 years has sparked an intense debate about the nature of the pay-setting process. Many view the high level of CEO compensation as the result of powerful managers setting their own pay. Others interpret high pay as the result of optimal contracting in a competitive market for managerial talent. We describe and discuss the empirical evidence on the evolution of CEO pay and on the relationship between pay and firm performance since the 1930s. Our review suggests that both managerial power and competitive market forces are important determinants of CEO pay, but that neither approach is fully consistent with the available evidence. We briefly discuss promising directions for future research

Association between different levels of dysglycemia and metabolic syndrome in pregnancy

<p>Abstract</p> <p>Background</p> <p>In this study, we sought to evaluate the prevalence of metabolic syndrome (MS) in a cohort of pregnant women with a wide range of glucose tolerance, prepregnancy risk factors for MS during pregnancy, and the effects of MS in the outcomes in the mother and in the newborn.</p> <p>Methods</p> <p>One hundred and thirty six women with positive screening for gestational diabetes mellitus (GDM) were classified by two diagnostic methods: glycemic profile and 100 g OGTT as normoglycemic, mild gestational hyperglycemic, GDM, and overt GDM. Markers of MS were measured between 2428^thduring the screening.</p> <p>Results</p> <p>The prevalence of MS was: 0%; 20.0%; 23.5% and 36.4% in normoglycemic, mild hyperglycemic, GDM, and overt GDM groups, respectively. Previous history of GDM with or without insulin use, BMI ≥ 25, hypertension, family history of diabetes in first degree relatives, non-Caucasian ethnicity, history of prematurity and polihydramnios were statistically significant prepregnancy predictors for MS in the index pregnancy, that by its turn increased the adverse outcomes in the mother and in the newborn.</p> <p>Conclusion</p> <p>The prevalence of MS increases with the worsening of glucose tolerance; impaired glycemic profile identifies pregnancies with important metabolic abnormalities even in the presence of a normal OGTT, in patients that are not classified as having GDM.</p

Histopathological placental lesions in mild gestational hyperglycemic and diabetic women

Objective: To investigate and compare the incidence of histopathological placental lesions in mild gestational hyperglycemia, gestational diabetes and overt diabetes at term and preterm gestation.Research design and methods: One-hundred-and-thirty-one placental samples were collected from Diabetes mellitus (DM) positive screened patients. Two diagnostic tests, glycemic profile and 100 g oral glucose tolerance test (OGTT) in parallel identified 4 groups normoglycemic, mild gestational hyperglycemia (MGH), gestational DM (GDM) or overt DM (DM). Placental tissue specimens and sections from 4 groups were obtained by uniform random sampling and stained with hematoxylin-eosin.Results: Placentas from MGH group presented 17 types of histopathological change and higher rates of syncytial nodes and endarteritis. GDM placentas presented only nine types of histopathological change, high rates of dysmaturity, low rates of calcification and no syncytial nodes. Overt DM placentas showed 22 types of histopathological change, 21 of which were present in the preterm period. There were histopathological similarities between MGH and DM placentas, but the former exhibited a higher incidence of endarteritis, which has been described as a post-mortem phenomenon.Conclusion: Our results confirmed that the distinct placental changes associated with DM and MGH depend on gestational period during which the diabetic insult occurs. It may reasonably be inferred that subclinical maternal hyperglycemia during pregnancy, as showed in MGH group, is responsible for increased placental endarteritis, a postmortem lesion in the live fetus