107 research outputs found

    RBCK1ā€related disease: A rare multisystem disorder with polyglucosan storage, autoā€inflammation, recurrent infections, skeletal, and cardiac myopathyā€”Four additional patients and a review of the current literature

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    In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and autoā€inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings

    The view of teachers on bullying and implications for nursing

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    Objetivo: Compreender o bullying escolar, na perspectiva dos professores, e refletir sobre as possĆ­veis aƧƵes da Ć”rea da saĆŗde em seu enfrentamento. Para tanto, tomaram- se por base as diretrizes do Programa SaĆŗde na Escola, dos MinistĆ©rios da SaĆŗde e da EducaĆ§Ć£o. MĆ©todo: Estudo de caso qualitativo, realizado com professores de uma escola pĆŗblica de Minas Gerais. Foram utilizados grupos focais na coleta de dados e o material empĆ­rico foi decodificado a partir de tĆ©cnica de anĆ”lise temĆ”tica de conteĆŗdo, resultando em uma categoria analĆ­tica: concepƧƵes e experiĆŖncias de professores diante do bullying. Resultados: Foram identificadas percepƧƵes pontuais sobre o fenĆ“meno e utilizaĆ§Ć£o de recursos de intervenĆ§Ć£o pouco eficazes. No plano interpretativo, problematizaram-se as contribuiƧƵes da saĆŗde e da enfermagem no redimensionamento das intervenƧƵes e no processo de formaĆ§Ć£o continuada dos professores. ConclusĆ£o: Os resultados apontam para a construĆ§Ć£o de prĆ”ticas intersetoriais para o enfrentamento do bullying.To understand school bullying from the perspective of teachers and reflect about the possible actions of the health area when coping with it. The guidelines of the School Health Program of the Ministries of Health and Education were used to reach that purpose. Method: A qualitative study carried out with teachers of a public school in Minas Gerais. Focus groups were used to collect data and the empirical material was decoded from thematic analysis of content, resulting in an analytical category: conceptions and experiences of teachers on bullying. Results: Specific perceptions about the phenomenon and the use of ineffective intervention resources were identified. In the interpretive plan were problematized the health and nursing contributions with resizing the interventions and the continuing training process of teachers. Conclusion: The results point to the construction of intersectoral practices forcoping with bullying.Objetivo: Comprender el bullying escolar desde la perspectiva de los profesores, y reflexionar sobre las posibles acciones del Ć”rea de salud en su enfrentamiento. Tomando como base los lineamientos del Programa de Salud Escolar, de los Ministerios de Salud y de EducaciĆ³n. MĆ©todo: Estudio de caso cualitativo realizado con los profesores de una escuela pĆŗblica en Minas Gerais. Para la recolecciĆ³n de datos se utilizaron grupos focales y el material empĆ­rico fue decodificado a partir de la tĆ©cnica de anĆ”lisis temĆ”tico de contenido, dando lugar a una categorĆ­a analĆ­tica: concepciones y experiencias de los profesores sobre el acoso escolar. Resultados: Se identificaron percepciones especĆ­ficas sobre el fenĆ³meno y la utilizaciĆ³n de recursos ineficaces de intervenciĆ³n. En el plano interpretativo, se problematizaron las contribuciones de la salud y de la enfermerĆ­a en el redimensionamiento de las intervenciones y en el proceso de formaciĆ³n continua de los profesores. ConclusiĆ³n: Los resultados apuntan a la construcciĆ³n de prĆ”cticas intersectoriales para el enfrentamiento del bullying.CIEC - Centro de InvestigaĆ§Ć£o em Estudos da CrianƧa, UM (UI 317 da FCT

    Right drug, right patient, right time: aspiration or future promise for biologics in rheumatoid arthritis?

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    Individualising biologic disease-modifying anti-rheumatic drugs (bDMARDs) to maximise outcomes and deliver safe and cost-effective care is a key goal in the management of rheumatoid arthritis (RA). Investigation to identify predictive tools of bDMARD response is a highly active and prolific area of research. In addition to clinical phenotyping, cellular and molecular characterisation of synovial tissue and blood in patients with RA, using different technologies, can facilitate predictive testing. This narrative review will summarise the literature for the available bDMARD classes and focus on where progress has been made. We will also look ahead and consider the increasing use of ā€˜omicsā€™ technologies, the potential they hold as well as the challenges, and what is needed in the future to fully realise our ambition of personalised bDMARD treatment

    Long-Lived Plasma Cells and Memory B Cells Produce Pathogenic Anti-GAD65 Autoantibodies in Stiff Person Syndrome

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    Stiff person syndrome (SPS) is a rare, neurological disorder characterized by sudden cramps and spasms. High titers of enzyme-inhibiting IgG autoantibodies against the 65 kD isoform of glutamic acid decarboxylase (GAD65) are a hallmark of SPS, implicating an autoimmune component in the pathology of the syndrome. Studying the B cell compartment and the anti-GAD65 B cell response in two monozygotic twins suffering from SPS, who were treated with the B cell-depleting monoclonal anti-CD20 antibody rituximab, we found that the humoral autoimmune response in SPS is composed of a rituximab-sensitive part that is rapidly cleared after treatment, and a rituximab-resistant component, which persists and acts as a reservoir for autoantibodies inhibiting GAD65 enzyme activity. Our data show that these potentially pathogenic anti-GAD65 autoantibodies are secreted by long-lived plasma cells, which may either be persistent or develop from rituximab-resistant memory B lymphocytes. Both subsets represent only a fraction of anti-GAD65 autoantibody secreting cells. Therefore, the identification and targeting of this compartment is a key factor for successful treatment planning of SPS and of similar autoimmune diseases

    Autoimmune gastrointestinal complications in patients with Systemic Lupus Erythematosus: case series and literature review

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    The association of systemic lupus erythematosus (SLE) with gastrointestinal autoimmune diseases is rare, but has been described in the literature, mostly as case reports. However, some of these diseases may be very severe, thus a correct and early diagnosis with appropriate management are fundamental. We have analysed our data from the SLE patient cohort at University College Hospital London, established in 1978, identifying those patients with an associated autoimmune gastrointestinal disease. We have also undertaken a review of the literature describing the major autoimmune gastrointestinal pathologies which may be coincident with SLE, focusing on the incidence, clinical and laboratory (particularly antibody) findings, common aetiopathogenesis and complications

    Wear and corrosion interactions on titanium in oral environment : literature review

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    The oral cavity is a complex environment where corrosive substances from dietary, human saliva, and oral biofilms may accumulate in retentive areas of dental implant systems and prostheses promoting corrosion at their surfaces. Additionally, during mastication, micromovements may occur between prosthetic joints causing a relative motion between contacting surfaces, leading to wear. Both processes (wear and corrosion) result in a bio-tribocorrosion system once that occurs in contact with biological tissues and fluids. This review paper is focused on the aspects related to the corrosion and wear behavior of titanium-based structures in the oral environment. Furthermore, the clinical relevance of the oral environment is focused on the harmful effect that acidic substances and biofilms, formed in human saliva, may have on titanium surfaces. In fact, a progressive degradation of titanium by wear and corrosion (tribocorrosion) mechanisms can take place affecting the performance of titanium-based implant and prostheses. Also, the formation of wear debris and metallic ions due to the tribocorrosion phenomena can become toxic for human tissues. This review gathers knowledge from areas like materials sciences, microbiology, and dentistry contributing to a better understanding of bio-tribocorrosion processes in the oral environment.(undefined

    A prospective survey in European Society of Cardiology member countries of atrial fibrillation management: baseline results of EURO bservational Research Programme Atrial Fibrillation (EORP-AF) Pilot General Registry

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    Aims: Given the advances in atrial fibrillation (AF) management and the availability of new European Society of Cardiology (ESC) guidelines, there is a need for the systematic collection of contemporary data regarding the management and treatment of AF in ESC member countries. Methods and results: We conducted a registry of consecutive in- and outpatients with AF presenting to cardiologists in nine participating ESC countries. All patients with an ECG-documented diagnosis of AF confirmed in the year prior to enrolment were eligible. We enroled a total of 3119 patients from February 2012 to March 2013, with full data on clinical subtype available for 3049 patients (40.4% female; mean age 68.8 years). Common comorbidities were hypertension, coronary disease, and heart failure. Lone AF was present in only 3.9% (122 patients). Asymptomatic AF was common, particularly among those with permanent AF. Amiodarone was the most common antiarrhythmic agent used (~20%), while beta-blockers and digoxin were the most used rate control drugs. Oral anticoagulants (OACs) were used in 80% overall, most often vitamin K antagonists (71.6%), with novel OACs being used in 8.4%. Other antithrombotics (mostly antiplatelet therapy, especially aspirin) were still used in one-third of the patients, and no antithrombotic treatment in only 4.8%. Oral anticoagulants were used in 56.4% of CHA 2DS2-VASc = 0, with 26.3% having no antithrombotic therapy. A high HAS-BLED score was not used to exclude OAC use, but there was a trend towards more aspirin use in the presence of a high HAS-BLED score. Conclusion: The EURObservational Research Programme Atrial Fibrillation (EORP-AF) Pilot Registry has provided systematic collection of contemporary data regarding the management and treatment of AF by cardiologists in ESC member countries. Oral anticoagulant use has increased, but novel OAC use was still low. Compliance with the treatment guidelines for patients with the lowest and higher stroke risk scores remains suboptimal. Ā© The Author 2013

    Assessing the human immune system through blood transcriptomics

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    Blood is the pipeline of the immune system. Assessing changes in transcript abundance in blood on a genome-wide scale affords a comprehensive view of the status of the immune system in health and disease. This review summarizes the work that has used this approach to identify therapeutic targets and biomarker signatures in the field of autoimmunity and infectious disease. Recent technological and methodological advances that will carry the blood transcriptome research field forward are also discussed
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