Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

ObjectiveTo evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects.Design and methodsQuasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (SNIP) tests were assessed in eighteen DM1 subjects and eleven healthy.ResultsMRR was lower in DM1 group compared to healthy (P = 0.001) and was considered sensitive and specific to identify disease in DM1 and discard it in controls, as well as SNIP% (P = 0.0026), PImax% (P = 0.0077) and PEmax% (P = 0.0002). Contraction time of SCM and SCA was higher in DM1 compared to controls, respectively, during PImax (P = 0.023 and P = 0.017) and SNIP (P = 0.015 and P = .0004). The DM1 group showed lower PImax (P = .0006), PEmax (P = 0.0002), SNIP (P = 0.0014), and higher electromyographic activity of the SCM (P = 0.002) and SCA (P = 0.004) at rest; of 2ndIS (P = 0.003) during PEmax and of SCM (P = 0.02) and SCA (P = 0.03) during SNIP test.ConclusionsMD1 subjects presented restrictive pattern, reduced respiratory muscle strength, muscular electrical activity and MRR when compared to higher compared to controls. In addition, the lower MRR found in MD1 subjects showed to be reliable to sensitivity and specificity in identifying the delayed relaxation of respiratory muscles.

Erasmus Guillain Barre Outcome Score was not a good predictor for the ability to walk after 6 months of GBS in Rio Grande do Norte, Brazil. Differences could be that the Brazilian GBS were younger, or alternatively, it could be due to a different infection profile or in the incidence of nodopathies.

Resumo Introdução: A Esclerose Lateral Amiotrófica (ELA) é uma doença neurodegenerativa, caracterizada por uma progressiva e fatal perda de neurônios motores do córtex cerebral, tronco encefálico e medula espinhal, mas que mantém preservada a atividade intelectual e cognitiva do paciente. Pacientes acometidos por essa doença irão invariavelmente necessitar do auxílio de ventiladores mecânicos. Métodos: Foi utilizado um conjunto de hardware e software para realizar o monitoramento dos parâmetros respiratórios dos pacientes em leitos hospitalares como forma de auxiliar à equipe de saúde. O monitoramento desses parâmetros deu-se por meio de uma webcam, que capturava os valores exibidos na tela do ventilador mecânico, e do emprego de técnicas de visão computacional e Optical Character Recognition (OCR). Neste sentido, o sistema foi testado sob três condições de luminosidade diferentes para verificar a eficácia do mesmo. Resultados: O sistema apresentou uma média geral de acertos de 94.90%. Além disso, quando a interferência luminosa foi mínima, o sistema obteve uma média geral de acertos de 97,76%. Conclusão: A adoção de um sistema computacional baseado em visão computacional para auxílio da equipe de saúde no monitoramento hospitalar de pacientes com ELA mostrou-se satisfatória. No entanto, a pesquisa mostrou que a adoção de um sistema com maior imunidade à interferências luminosas externas tende a apresentar melhores resultados. Palavras-chave Monitoramento de pacientes, Esclerose Lateral Amiotrófica, BiPAP, Visão computacional, Ambiente WEB, Computador de placa única. An angel for ALS: architecture based on computer vision applied for on-line monitoring respiratory parameters of patients with Amyotrophic Lateral Sclerosis (ALS) in hospital environment Abstract Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease characterized by a progressive and fatal loss of motor neurons in the cerebral cortex, brainstem and spinal cord. In spite of that, the patient's intellectual and cognitive activity remains preserved. Patients affected by this disease will invariably need the help of mechanical ventilators. Methods: A set of hardware and software was used to perform the monitoring of respiratory parameters of patients in hospital beds as a means of assisting the healthcare team. The monitoring of these parameters was performed by a webcam that captured the values displayed on the screen of the ventilator, and the employment of computer vision techniques and Optical Character Recognition (OCR). In this sense, the system was tested under three different lighting conditions to verify its effectiveness. Results: The system presented an overall average of 94.90% of correct answers. Furthermore, when the luminous interference was minimum, it achieved an overall average of success of 97.76%. Conclusion: The adoption of a computational system based on computer vision to aid the healthcare team in hospital monitoring of patients with ALS was satisfactory. However, the research has shown that the adoption...

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A Distrofia Muscular de Duchenne (DMD) é uma doença progressiva recessiva ligada ao cromossomo X, caracterizada por fraqueza muscular e possíveis complicações no sistema cardiorrespiratório e digestivo. Este artigo é uma revisão de literatura, cujo objetivo é elaborar um protocolo para terapia nutricional na DMD, para subsidiar a prática clínica da equipe de nutricionistas e estudantes do curso de Nutrição que atuam no projeto de extensão Assistência nutricional nas distrofias musculares infantis, desenvolvido no ambulatório de doenças neuromusculares do Hospital Universitário Onofre Lopes/ UFRN. A seleção de artigos foi feita nas bases de dados Pubmed e Embase, utilizando descritores padronizados. O protocolo elaborado, baseado em evidências científicas, poderá auxiliar na tomada de decisão sobre o tratamento dietoterápico de indivíduos com DMD.

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Introduction. Hypertrophic pachymeningitis (HP) is a rare inflammatory disease that results in thickening of the dura mater. Atypically, it can progress to include the involvement of the cerebral parenchyma. Method. In this paper, we report the rare case of a 31-year-old man with a three-week history of headaches, seizures, impairments of cognitive function, and changes in behavior and mood. Magnetic resonance imaging (MRI) of the brain showed a thickening and an abnormal enhancement of the dura mater over the falx cerebri with extensions into the adjacent cranial base and with brain edemas in the frontal lobes. Histopathological study of meningeal and brain biopsies showed an inflammatory process that was compatible with HP. The results of an extensive laboratory investigation were unremarkable and did not provide additional information on the cause of the meningeal disease. The patient exhibited relapses despite immunosuppressive therapy. Conclusion. This case shows the challenges associated with the management of the disease and the importance of early diagnosis to avoid worsening of the condition and cerebral damage.