Duchenne's muscular dystrophy

Em 1861, na segunda edição de seu livro "Paraplégie Hyperirophique de l'enfance de cause cérébrale", Guillaune Benjamin Amand Duchenne descreveu um garoto com a forma de distrofia muscular que leva seu nome. A distrofia muscular de Duchenne (DMD) é a patologia neuromuscular mais freqüente em seres humanos, sendo diretamente ligada ao cromossomo X. Tipicamente, seus sintomas se tornam aparentes por volta dos três anos de idade, através de uma fraqueza muscular progressiva. Apesar do rápido avanço na pesquisa básica da etiologia e fisiopatologia da DMD, nenhuma terapia clínica curativa é disponível. Sabe-se, entretanto, que a complexa inter-relação entre os déficits na força muscular, arco de movimento e função física, mostra a necessidade de uma intervenção terapêutica totalmente holística. O presente estudo busca revisar vários aspectos inerentes à DMD para que seja possível elucidar questões variadas acerca desta patologia._________________________________________________________________________________________ ABSTRACT: In 1861 in the second edition of his book "Paraplégie Hypertrophique de l'enfance de cause cérébrale", Duchenne described a boy with the form of muscular dystrophy that now bears his name. Duchenne's muscular dystrophy (DMD) is the most common neuromuscular pathology in human, and is directly linked with X chromosome. Typically, clinical symptoms arise around the age of 3 years with progressive muscle weakness. In spite of the fast advance in DMD's etiology and pathophysiology none curative clinical therapy is available. Meanwhile, it's clear that the complex inter-relationship between muscle strength, range of motion and physical function means that assessment of outcome of therapeutic intervention requires a holistic approach. The present research, make a review about several inherents aspects from DMD to be possible an elucidation about varied questions correspondents to this pathology

Improved serological detection of rheumatoid arthritis: a highly antigenic mimotope of carbonic anhydrase III selected in a murine model by phage display

© 2015 Araujo et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http:// creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.Introduction: Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease that affects around 1% of the human population worldwide. RA diagnosis can be difficult as there is no definitive test for its detection. Therefore, the aim of this study was to identify biomarkers that could be used for RA diagnosis. Methods: Sera from a collagen-induced arthritis mouse model were used to select potential biomarkers for RA diagnosis by phage display technology. In silico and in vitro analyses were performed to characterize and validate the selected peptides. Samples were classified into three groups: RA; two other immune-mediated rheumatic diseases (systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS)); and healthy controls (HC). Enzyme-linked immunosorbent assay (ELISA) was carried out to determine antibody levels, and diagnostic parameters were determined by constructing receiver operating characteristic curves. Mass spectrometry and Western blot were performed to identify the putative autoantigen that was mimicked by a highly reactive mimotope. Results: After three rounds of selection, 14 clones were obtained and tested for immunoreactivity analysis against sera from RA and HC groups. The phage-fused peptide with the highest immunoreactivity (M12) was synthesized, and was able to efficiently discriminate RA patients from SLE, AS and HCs (p < 0.0001) by ELISA. The specificity and sensitivity of anti-M12 antibodies for RA diagnosis were 91 % and 84.3 %, respectively. The M12 peptide was identified as one that mimics a predicted antigenic site of the carbonic anhydrase III (CAIII) protein, a ubiquitous biomarker that has been identified in patients with other diseases. Conclusion: M12 is the first peptide associated with the CAIII protein that may be used as an antigen for antibody detection to aid in RA diagnosis with high sensitivity and specificity.This study was supported by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Foundation, Ministry of Education of Brazil (CSF SDW-2027/13-5) and the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).info:eu-repo/semantics/publishedVersio

Patient-physician discordance in assessment of adherence to inhaled controller medication: a cross-sectional analysis of two cohorts

We aimed to compare patient's and physician's ratings of inhaled medication adherence and to identify predictors of patient-physician discordance.(SFRH/BPD/115169/2016) funded by Fundação para a Ciência e Tecnologia (FCT); ERDF (European Regional Development Fund) through the operations: POCI-01-0145-FEDER-029130 ('mINSPIRERS—mHealth to measure and improve adherence to medication in chronic obstructive respiratory diseases—generalisation and evaluation of gamification, peer support and advanced image processing technologies') cofunded by the COMPETE2020 (Programa Operacional Competitividade e Internacionalização), Portugal 2020 and by Portuguese Funds through FCT (Fundação para a Ciência e a Tecnologia).info:eu-repo/semantics/publishedVersio

Evaluation Of The Overload Of Care In Families Of Psychiatric Patients In Psychosocial Care Center

Introduction: The burden of care in family refers to the weight caused by the primary caregiver role to psychiatric patients and the difficulties encountered in performing this function in daily life. Objectives: Assessing the objective and subjective overload of family members who live with the reality of psychiatric disorder in a child day-care psychosocial care center. Methods: Cross-sectional study, descriptive-exploratory, of quantitative approach, with non-probabilistic samples of accidental type with 80 families of psychiatric patients held in a Psychosocial Care Center. For overload evaluation, the subscales "B" and "D" of the Family Overload Rating Scale (FBIS-BR) were used. Results: The study was conducted with 80 families of psychiatric patients. The average age of female caregivers was 39,6 years old, and 40,7 years old for male caregivers, with female predominance (87,5%) compared to men (12,5%), with low education for both genres. Family caregivers presented high objective burden due to excessive demand attention (p&lt;0,001), heteroaggressiveness (p&lt;0,001) and perplexing behavior of psychiatric patients regarding the supervision of problematic behaviors (p&lt;0,001). The items on the impact on the family's daily routine have not helped to generate objective overload for the family members. On subjective overload, it was clear to observe familiar members with high degree of disturbance in all the dimensions assessed (p &lt; 0,001). Conclusion: The high degree of care overload observed in family members indicates the need to develop contacts with the family of the psychiatric patient to answer questions, offer support and assistance to the family caregiver. Keywords: Caregivers. Patients. Mental Health Services