Search results for "EPOR"
showing 10 items of 2839 documents
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
2013
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…
Testicular fusocellular rhabdomyosarcoma as a metastasis of elbow sclerosing rhabdomyosarcoma: A clinicopathologic, immunohistochemical and molecular…
2010
Abstract Sclerosing rhabdomyosarcoma (SRMS) is an infrequent variant of rhabdomyosarcoma characterized by extensive intercellular hyaline fibrosis. We report the case of a 37 year-old male with a 9 × 6 cm SRMS on the right elbow. Histologically, the tumor showed an abundant extracellular hyaline matrix with extratumoral vascular emboli and microscopic foci of fusocellular embryonal rhabdomyosarcoma (FRMS) separated by a fibrotic band from the sclerosing areas. One year later the patient presented with a right intratesticular tumor of 1.2 × 0.8 cm, which was reported as pure FRMS. Immunohistochemically, SRMS was positive only for MyoD1 and Vimentin and negative for Myogenin and Desmin. Both …
Unusual MRI findings in an immunocompetent patient with EBV encephalitis: a case report.
2011
Abstract Blackground It is well-known that Epstein-Barr virus (EBV) can affect the central nervous system (CNS). Case presentation Herein the authors report unusual timely Magnetic Resonance Imaging (MRI) brain scan findings in an immunocompetent patient with EBV encephalitis. Diffusion weighted MRI sequence performed during the acute phase of the disease was normal, whereas the Fast Relaxation Fast Spin Echo T2 image showed diffuse signal intensity changes in white matter. The enhancement pattern suggested an inflammatory response restricted to the brain microcirculation. Acyclovir and corticosteroid therapy was administered. After three weeks, all signal intensities returned to normal and…
Different immunohistochemical levels of Hsp60 and Hsp70 in a subset of brain tumors and putative role of Hsp60 in neuroepithelial tumorigenesis
2013
In this work we analysed, by immunohistochemistry, a series of brain tumors to detect the levels and cellular distribution of Hsp60 and Hsp70. We found that Hsp60 levels were significantly higher than those of Hsp70 in neuroepithelial tumors, while levels of both molecules were not significantly different from each other in meningeal neoplasms. In particular, Hsp60 immunopositivity was present mainly at the cytoplasmic level, while Hsp70 immunopositivity was found both in the cytoplasm and in the nucleus of tumor cells. The levels of these molecules in healthy control cells were always very low. Finally, Hsp60 and Hsp70 levels did not correlate with the different types (WHO grade) of neopla…
Factors associated with the quality of life of subjects with facial disfigurement due to surgical treatment of head and neck cancer
2018
Background Facial disfigurement has been considered one of the most challenging consequences of the surgical treatment for head and neck cancer patients, mainly due to the importance of the facial region for the personal identity, body self-image and interpersonal interactions, which might affect negatively the quality of life. The aim of this study was to assess factors associated with the quality of life of subjects with facial disfigurement due to surgical treatment. Material and Methods Clinical data were retrieved from 103 patient’s medical records and quality of life data were collected using the Functional Assessment of Cancer Therapy (FACT-H&N) questionnaire. Moreover, the degree of…
Influence of Scapular Position on the Core Musculature Activation in the Prone Plank Exercise
2017
Cortell-Tormo, JM, García-Jaén, M, Chulvi-Medrano, I, Hernández-Sánchez, S, Lucas-Cuevas, ÁG, and Tortosa-Martínez, J. Influence of scapular position on the core musculature activation in the prone plank exercise. J Strength Cond Res 31(8): 2255-2262, 2017-Prone plank is a widely used exercise in core stability training. Research has shown that pelvic tilt plays an important role on the electromyographic (EMG) activation of core musculature. However, the influence of scapular position on EMG activation is currently unknown. Therefore, this study evaluated the influence of scapular position on the core muscles during a prone plank. Surface EMG of the rectus abdominis (RA), external oblique (…
Towards a physically more active lifestyle based on one’s own values: the results of a randomized controlled trial among physically inactive adults
2015
Background The high prevalence of physical inactivity has led to a search for novel and feasible interventions that will enhance physical activity, especially among the least physically active individuals. This randomized controlled trial aimed to determine the effectiveness of a value-based intervention to promote a physically more active lifestyle among physically inactive adults. The framework of the study was based on Acceptance and Commitment Therapy (ACT). Methods Physically inactive participants aged 30 to 50 years (n = 138) were randomly allocated to a feedback (FB, n = 69) or an acceptance- and commitment-based group (ACT + FB, n = 69). Both groups received written feedback about t…
De novo mutation in a male patient with Fabry disease: a case report
2014
Abstract Background Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely. Case presentation In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, ang…
Development of a new measure for assessing insight: Psychometric properties of the insight orientation scale (IOS)
2015
Abstract Introduction Given the centrality of insight in promoting change, the relevance of measures for assessing this construct has become increasingly clear. This paper describes a new self-report measure for assessing some of the characteristics of insight, the insight orientation scale (IOS). Aims In study 1, we evaluated the factor structure and the reliability of the scale. In study 2, we analyzed the concurrent and discriminant validity of the scale in patients with different clinical diagnoses. Methods In study 1 participants were 600 individuals (41.1% male, 58.9% female) with a mean age of 33.95 years (SD = 13.04). In study 2 participants were 136 individuals divided into the fol…
Relationship between device acceptance and patient-reported outcomes in Left Ventricular Assist Device (LVAD) recipients
2019
AbstractThe number of Left Ventricular Assist Devices (LVADs) implanted each year is rising. Nevertheless, there are minimal data on device acceptance after LVAD implant, and on its relationship with patient-reported outcomes. We designed a cross-sectional study to address this knowledge gap and test the hypothesis that low device acceptance is associated with poorer quality of life, depression and anxiety. Self-report questionnaires were administered to assess quality of life (12-item Kansas City Cardiomyopathy Questionnaire quality of life subscale), level of anxiety (7-item Generalized Anxiety Disorder; GAD-7), level of depression (9-item Patient Health Questionnaire; PHQ-9) and device a…