Systemic sclerosis in a patient with muscle dystrophy.

Systemic sclerosis is an autoimmune disease that can result in lung fibrosis, and is strongly associated with the presence of serum anti-topoisomerase-I autoantibodies. A young man with genetic muscular dystrophy caused by titin-cap/telethonin (TCAP) gene mutation, developed a severe restrictive lung disease due to a fibrosing interstitial pneumonia secondary to systemic sclerosis with positive anti-topoisomerase-I antibodies. Using amino acid sequence alignment and protein structure modelling, we found that mutant telethonin exposes an amino acid sequence with significant homology to an immunodominant site of topoisomerase-I. Abnormal telethonin results in a loss of integrity of the sarcomere structure, which might result in rhabdomyolysis and abnormal protein exposure to the immune system. Our preliminary analysis suggests a possible role for mutant sarcomere protein telethonin as an immunogenic target recognised by anti-topoisomerase-I antibodies, which could explain the development of systemic sclerosis in this particular patient.

The role of minor salivary glands' biopsy in the diagnosis of Sjögren's syndrome and other systemic diseases.

BACKGROUND: The minor salivary glands' biopsy is a minimally invasive procedure used for the diagnosis of Sjögren's syndrome. Its significance has also been reported in other inflammatory/infiltrative diseases. The objectives are to investigate its use in the diagnosis of Sjögren's syndrome, as well as to evaluate its role in the diagnosis of amyloidosis and sarcoidosis. METHODS: A retrospective analysis was carried out on patients who underwent minor salivary glands' biopsies between April of 2014 and December of 2017. RESULTS: A total of 173 patients were identified. Of the patients with suspected Sjögren's syndrome, in 40% of the cases there was evidence of lymphocytic sialadenitis. The antibodies against SSA, antinuclear antibodies and the Rheumatoid Factor correlated significantly with the presence of lymphocytic sialadenitis. The result of the minor salivary glands' biopsies allowed an increase of 12.4% of patients who met the criteria defined by the American - European Consensus Group. Of the patients with suspected amyloidosis (25%), the biopsies were positive in 4 patients. CONCLUSION: The minor salivary glands' biopsy is a simple procedure with effectiveness in the diagnosis of Sjögren's syndrome and amyloidosis. In this study, its use increased the number of patients who met the Sjögren's syndrome classification criteria. It also appears to be useful in the diagnosis of amyloidosis.

Sjögren Sensory Neuronopathy (Sjögren Ganglionopathy): Long-Term Outcome and Treatment Response in a Series of 13 Cases.

Primary Sjögren syndrome (SS) is an autoimmune disease mainly affecting the exocrine glands causing a sicca syndrome. Neurological manifestations are rarely seen in SS although they are debilitating. Peripheral neuropathies namely sensory axonal neuropathy and painful small fiber neuropathy are the most frequent neurological manifestations. Sensory neuronopathy (SN) is less frequently seen although leading to more severe handicap.The aim of the study was to analyze the clinical presentation and treatment efficacy in a series of SS-related SN.We retrospectively studied patients with SS fulfilling the American-European Classification Criteria and SN according to recent criteria. Studied variables were neurological findings, associated autoimmune diseases, biological profiles, nerve conduction and sensory/motor amplitudes study, treatments received, and outcomes. Handicap scores were studied at beginning and end of each treatment using the modified Rankin Scale (mRS).Thirteen patients were included (12 women, 1 man; median age 55 years at SN diagnosis) presenting with SN with a median follow-up of 3 years (range 2-17). In 11 patients, SN preceded or coincided with SS diagnosis. Most common neurological findings were ataxia and areflexia followed by paresthesia and pain. Lower limbs were more affected than upper limbs, neurological deficits were often symmetric and cranial nerves were affected in 3 patients. Seven patients were treated with corticosteroids, 7 with mycophenolate mofetil, 6 with hydroxychloroquine, 5 with intravenous immunoglobulins, 4 with cyclophosphamide, and 2 patients received other immunosuppressive drugs. At the beginning and at the end of follow-up, average mRS was 2.15 (median 2) and 2.38 (median 2), respectively.SS-related SN progression is heterogeneous but tends to be chronic, insidious, and debilitating despite treatment. From these data concerning a small number of patients, treatment strategies with corticosteroids in association with immunosuppressive drugs, namely mycophenolate mofetil, had positive results. In contrast, intravenous immunoglobulins had disappointing results.

Clinical, imagiological and etiological spectrum of posterior reversible encephalopathy syndrome.

OBJECTIVE: Analyze the cases of posterior reversible encephalopathy syndrome (PRES) admitted in a Neurology Department during an 8-year period. METHOD: Retrospective observational study in a central hospital in the north of Portugal. RESULTS: 14 patients were identified, mean age 52.3 years. Precipitating factors included: eclampsia, isolated arterial hypertension, spinal trauma and autonomic dysreflexia, Guillain-Barré syndrome, sepsis, sarcoidosis and pulmonary cryptococcosis and drugs. Most patients presented posterior-predominant vasogenic edema lesions, however 64.2% presented frontal lesions and in 42.8% cerebellum was involved. Four patients also had acute ischemic lesions and 1 had hemorrhagic lesions. During follow-up 10 patients recovered fully, 2 recovered partially, 1 suffered a recurrence and 2 died in hospital. CONCLUSION: PRES has many etiological factors. The terms posterior and reversible should be revised because PRES frequently involves other brain regions and it is not always reversible. PRES patients may develop life-threatening complications and mortality is not negligible.

Clinical, imagiological and etiological spectrum of posterior reversible encephalopathy syndrome / Espectro clínico, imagiológico e etiológico da síndrome de encefalopatia posterior reversível

Objective Analyze the cases of posterior reversible encephalopathy syndrome (PRES) admitted in a Neurology Department during an 8-year period. Method Retrospective observational study in a central hospital in the north of Portugal. Results 14 patients were identified, mean age 52.3 years. Precipitating factors included: eclampsia, isolated arterial hypertension, spinal trauma and autonomic dysreflexia, Guillain-Barré syndrome, sepsis, sarcoidosis and pulmonary cryptococcosis and drugs. Most patients presented posterior-predominant vasogenic edema lesions, however 64.2% presented frontal lesions and in 42.8% cerebellum was involved. Four patients also had acute ischemic lesions and 1 had hemorrhagic lesions. During follow-up 10 patients recovered fully, 2 recovered partially, 1 suffered a recurrence and 2 died in hospital. Conclusion PRES has many etiological factors. The terms posterior and reversible should be revised because PRES frequently involves other brain regions and it is not always reversible. PRES patients may develop life-threatening complications and mortality is not negligible. .

Objetivo Análise dos casos de síndrome de encefalopatia posterior reversível (PRES) internados em um Serviço de Neurologia durante oito anos. Método Estudo restrospectivo observacional num hospital central do norte de Portugal. Resultados Identificaram-se 14 casos, idade média de 52,3 anos. Os factores precipitantes foram: eclâmpsia, hipertensão arterial isolada, traumatismos vertebro-medulares com disfunção autonómica, síndrome de Guillain-Barré, sépsis, sarcoidose e criptococose pulmonar e fármacos. A maioria dos doentes apresentou lesões edematosas de predomínio posterior, contudo 64,2% apresentaram lesões frontais e 42,8% apresentaram também lesões cerebelosas. Quatro doentes tinham lesões isquémicas agudas e um apresentou lesões hemorrágicas. Durante o seguimento, 10 doentes recuperaram totalmente, 2 recuperaram com sequelas, 1 teve recidiva e 2 faleceram durante o internamento. Conclusão A PRES apresenta muitos factores precipitantes. As designações posterior e reversível deverão ser reequacionadas dado que a PRES afecta outras zonas do cérebro e nem sempre é reversível, apresentado complicações e mortalidade não ...

A cross sectional assessment of allergic rhinitis and asthma control at an immunoallergology outpatient hospital setting using CARAT10 questionnaire.

INTRODUCTION: The most recent guidelines on asthma and rhinitis management recommend the optimal control of both diseases as the primary goal of treatment. CARAT10 is a recently developed and validated Portuguese questionnaire, which permits the simultaneous assessment of allergic rhinitis and asthma (ARA) control. There is no published data about the use of this tool. AIMS: To assess ARA control using CARAT10 in an Immunoallergology hospital setting; METHODS: Patients with diagnosis of allergic rhinitis with or without asthma (positive aeroallergens prick-tests and/or positive specific IgE) were sequentially enrolled and asked to fill in CARAT10 questionnaire at their first appointment. RESULTS: Two hundred patients were included, mostly female (n=142) with an average age of 33.6±12.3 years. ARA was present in 86 patients while 114 had isolated allergic rhinitis. In ARA group, 86% scored CARATtotal ≤ 24, meaning poor control. Subscores revealed that 83% had poorly controlled rhinitis (CARATr ≤ 8) and 74% had poorly controlled asthma (CARATa < 16). There were no age or gender related differences in ARA control. In allergic rhinitis group (n=114), 89% were poorly controlled. CONCLUSIONS: Only 14% of patients presenting rhinitis and asthma had both diseases controlled.

[Duration of antibiotic therapy in bacterial meningitis]. / Duração da terapêutica antibiótica na meningite bacteriana.

The duration of antibiotic therapy in bacterial meningitis is a controversial issue. Antibiotic regimens have changed over time along with the criteria used to determine the ideal antibiotic therapy duration. The authors aim to make an historical overview on this matter and simultaneously add the evidence of recent studies, pointing out some issues in results interpretation, namely, their design and the associated demographic and epidemiological questions. Clinical assays on this subject, with statistically significant results, are quite recent. Most of the scientific knowledge has been acquired empirically through the times. The actual investigation paradigm, in what concerns to antibiotic therapy in bacterial meningitis, lays on the dichotomy: "short versus long duration regimens". Nevertheless, so far, the existing studies have not completely cleared this doubt. Thus, despite some evidence suggests that short duration antibiotic regimens are effective for some patients, in patients with severe disease presentations or with other morbidities its use may be questioned.

A questão do tempo de antibioterapia na meningite bacteriana é um assunto controverso. Os esquemas de antibioterapia têm variado ao longo do tempo bem como os critérios usados para a determinação da sua duração ideal. Os autores efectuaram uma revisão histórica sobre esta questão e, concomitantemente, reuniram a evidência de estudos recentes sobre esta temática, salientando alguns aspectos a ter em consideração na interpretação dos resultados, particularmente o desenho dos estudos e as inerentes questões demográficas e epidemiológicas. A investigação sobre esta questão, com resultados estatisticamente significativos, é relativamente recente sendo que a maior parte do conhecimento obtido é sobretudo baseado na experiência adquirida ao longo dos tempos. O paradigma da investigação actual, no que diz respeito à antibioterapia nas situações de meningite bacteriana, gira sobretudo em torno da dicotomia: esquemas de curta duração versus esquemas de longa duração. No entanto, os estudos existentes até ao momento não permitiram responder com clareza a esta dúvida, pelo menos de modo pleno. Assim sendo, apesar de haver evidência de que esquemas de curta duração são eficazes em alguns doentes, a sua utilização em doentes graves ou com co-morbilidades associadas poderá ser questionável.