Recurrent myocarditis in the context of Behçet's disease: a case report.

BACKGROUND: Behçet's syndrome is a multisystemic vasculitis of unknown aetiology. Cardiac involvement is rare, with described prevalence between 1% and 46%, with pericarditis, valvular insufficiency, intracardiac thrombosis, and eventually sinus of Valsalva aneurysms being the most common findings. Although previously reported, myocarditis is a very rare complication of Behçet's syndrome. CASE SUMMARY: A 26-year-old man, smoker but otherwise healthy, was admitted to the emergency department with atypical chest pain, with no radiation, relation to efforts, position or deep inspiration, and dyspnoea, since the day before. His physical examination was unremarkable, including no fever, tachycardia, or pericardial friction rub. Electrocardiogram (ECG) revealed an early repolarization pattern, with no changes noted in subsequent exams. He had elevation of inflammatory parameters and an increased high-sensitivity troponin level of 3300 ng/L. Transthoracic echocardiography (TTE) was unremarkable. Coronary angiography showed no coronary stenosis. A presumed diagnosis of non-complicated viral myocarditis was established. The patient's condition improved with acetylsalicylic acid as needed and colchicine and he was discharged after 3 days. Cardiac magnetic resonance was performed, showing late epicardial enhancement in the apical segment of the lateral wall, supporting the diagnosis of myocarditis. Four months later, the patient returned with recurrence of chest pain. Additionally, he also complained of fever, odynophagia, and otalgia since the previous week. Oropharyngeal examination revealed tonsillar pillars aphthosis. The ECG was similar to the previous and TTE was normal. Bloodwork revealed once again elevation of inflammatory parameters and elevation of troponin. Recurrent myocarditis was diagnosed. Treatment with ibuprofen, colchicine, and antibiotic therapy was started with no significant improvement. After a more thorough physical examination, an ulcerated scrotal lesion, a left buttock folliculitis, and an axillary hidradenitis were found, which, according to the patient, were recurrent in the last year. Accordingly, the diagnosis of Behçet's syndrome with mucocutaneous and cardiac involvement was established. The patient was kept on colchicine and was also started on immunosuppressive therapy with corticosteroids and azathioprine, with resolution of the symptoms in the following day. A positron emission tomography (PET) was performed 2 days after discharge and showed a higher myocardial uptake in the left ventricular basal segments and both papillary muscles. Prednisolone tapering was started after 2 months, while maintaining azathioprine. At 1-year follow-up, the patient remained asymptomatic. A re-evaluation PET was performed, showing no images suggestive of metabolically active disease in the myocardium. DISCUSSION: This case highlights the importance of awareness of this rare but potentially serious entity and reinforces the significance of aetiology investigation in cases of recurrent myocarditis. It also shows the success of immunosuppressive therapy in a context where the optimal management is still considerably uncertain.

Frailty and pain in an internal medicine ward / Fragilidade e dor numa enfermaria de medicina interna

In this letter, we report a small study which aimed to examine the correlation between frailty and pain in elderly patients admitted to an Internal Medicine ward. Consecutive patients, aged 65 or older, admitted during a 1-month period were recruited for the purposes of the study. All patients provided their written informed consent before their inclusion. We measured frailty using the Portuguese version of Tilburg Frailty Indicator (TFI) and pain with the Pain Impact Questionnaire (PIQ-6). Patients less than 65 years of age or with severe intellectual impairment according to the Portable Mental Status Questionnaire, as well as individuals who refused to participate, were excluded.

Nesta carta, relatamos um pequeno estudo que teve como objetivo examinar a correlação entre a fragilidade e a dor em pacientes idosos internados em uma enfermaria de medicina interna. Pacientes consecutivos, com 65 anos ou mais, admitidos durante um período de 1 mês foram recrutados para os fins do estudo. Todos os pacientes forneceram seu consentimento informado por escrito antes de sua inclusão. Medimos a fragilidade usando a versão em português do Tilburg Frailty Indicator (TFI) e a dor com o Pain Impact Questionnaire (PIQ-6). Pacientes com menos de 65 anos de idade ou com grave comprometimento intelectual de acordo com o Questionário de Estado Mental Portátil, bem como indivíduos que se recusaram a participar, foram excluídos.

PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease.

Our results prove that c.1871-14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA-based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice-site variant if present in patients with PS deficiency.

[Diagnosis recommendations for late-onset Pompe disease]. / Recomendações para o diagnóstico da forma tardia da doença de Pompe.

INTRODUCTION: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. OBJECTIVE: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. MATERIAL AND METHODS: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. RECOMMENDATIONS: Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.

Introdução: A Doença de Pompe é uma miopatia autossómica recessiva progressiva e incapacitante, devida ao défice da enzima lisossómica a-glicosidade-ácida. A sua forma tardia tem uma apresentação heterogénea que mimetiza outras doenças neuromusculares, o que dificulta o diagnóstico. Objectivo: Desenvolver recomendações baseadas em consenso para o diagnóstico da forma tardia da doença de Pompe. Material e Métodos: Revisão bibliográfica e análise de um questionário de opinião aplicado a um grupo de especialistas com experiência no diagnóstico de várias miopatias e doenças de sobrecarga lisossomal. Discussão em reunião de consenso. Recomendações: Doentes com miopatia proximal progressiva, fadiga, cãibras e mialgias devem ser submetidos a uma avaliação complementar com determinação de níveis de creatinina fosfoquinase, electromiograma, espirometria dinâmica e, em casos inconclusivos, biópsia muscular. Nos casos suspeitos ou naqueles em que a biópsia muscular não permita outro diagnóstico deve ser determinada a atividade da enzima lisossómica a-glicosidade-ácida através de teste de gota seca (DBS ­ dried blood spot). A redução da atividade da enzima lisossómica a-glicosidade-ácida requer a confirmação numa segunda amostra e a sequenciação do gene da enzima lisossómica a-glicosidade-ácida.

Intravenous immunoglobulin therapy in vasculitic ulcers: a case of polyarteritis nodosa.

INTRODUCTION: Polyarteritis nodosa (PAN) is a systemic necrotizing medium-size-vessel vasculitis with variable clinical manifestations. Diagnosis is confirmed by histology or angiography. The mainstay of treatment is corticosteroids alone or combined with cyclophosphamide (CYF). CASE REPORT: Seventy-one-year-old female, follow-up started in 1997 at the age of 56 for suspected relapsing febrile viral exanthema. Skin biopsy was performed and the diagnosis of lymphomatoid papulosis was made, with complete response to treatment with dapsone. In 2005, she presented with arthralgia, lower limb (LL) edema, livedo reticularis and elevated erythrocyte sedimentation rate (ESR). PAN was confirmed on histology and visceral angiography; antineutrophil cytoplasmic antibodies (ANCA) were negative. She responded to prednisolone but relapsed in 2006. Twelve cycles of CYF were administered, with clinical, angiographic and analytical improvement. In 2008, a new relapse occured with LL neuropathic pain and ESR elevation. Electromyogram (EMG) confirmed axonal sensory polyneuropathy (PNP). Azathioprine was started with a poor response. A second EMG, 12 months later in 2009 still evidenced PNP, and nerve biopsy confirmed vasculitic neuropathy. In 2010, she had ulcers in LL and iron-deficient anemia. She started intravenous immunoglobulin (IVIG) for six cycles, achieving ulcer healing, absence of pain, no anemia and ESR normalization. DISCUSSION: IVIG therapy has proven benefit in Kawasaki disease, also showing efficacy in refractory ANCA-associated vasculitis. In PAN, only very few case reports show benefit. In this case, IVIG therapy induced total remission of LL ulcers and PNP, suggesting that it may be useful in selected cases of refractory PAN.