PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

BACKGROUND: Acute hepatic porphyrias (AHPs) are a group of rare diseases that encompasses acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolaevulinic acid dehydratase deficiency porphyria. Symptoms of AHP are nonspecific which, together with its low prevalence, difficult the diagnosis and follow-up of these patients. MATERIAL AND METHODS: This project used DELPHI methodology to answer PICO questions related to management of patients with AHPs. The objective was to reach a consensus among multidisciplinary porhyria experts providing answers to those PICO questions for improving diagnosis and follow-up of patients with AHP. RESULTS: Ten PICO questions were defined and grouped in four domains: 1. Biochemical diagnosis of patients with AHP. 2. Molecular tests for patients with AHP. 3. Follow-up of patients with AHP. 4. Screening for long-term complications of patients with AHP. CONCLUSIONS: PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.

IgG4 related disease. / Enfermedad relacionada con IgG4.

IgG4-related disease (ER-IgG4) is a recognised systemic disease. It was described after patients diagnosed with autoimmune pancreatitis showed signs of extra-pancreatic disease. The clinical manifestation of these patients is subacute and is manifested by the appearance of pseudotumoral lesions, or inflammatory or fibrous tumours. Sometimes it can be serious as in the case of patients with cholangitis or large vessel vasculitis. Diagnostic criteria include, among others, serum IgG4 elevation and/or histological parameters. The 18F-FDG-PET/CT is useful in the initial diagnosis, biopsy guidance as well as in the assessment of response to therapy. It usually responds to steroid therapy.

Subclinical cardiovascular disease and Systemic Sclerosis: A comparison between risk charts, quantification of coronary calcium and carotid ultrasonography.

BACKGROUND AND OBJECTIVES: Recently published population-based cohort studies have shown a high prevalence of cardiovascular disease in Systemic Sclerosis (SSc) patients. The aim of this study is to compare three different methods to measure cardiovascular risk in patients with scleroderma. METHODS: Forty-three SSc patients were included. A prospective study was performed for evaluation of cardiovascular risk and subclinical atheromatosis using 3 non-invasive methods: cardiovascular risk tables, carotid Doppler ultrasonography and quantification of coronary calcium by computerized tomography (CT). RESULTS: The cardiovascular risk charts for the Spanish population did not identify patients at high cardiovascular risk. Framingham-REGICOR identified 13 intermediate-risk patients. Twenty-two patients (51.2%) had plaques on carotid ultrasonography. We performed a ROC curve to identify the best cutoff point for the quantification of coronary artery calcium (CACscore), the value of CACscore > 28 AU (Agatston Units) had the highest sensitivity (73%) and specificity (81%) for the diagnosis of subclinical atheromatosis. In the multiple regression study, age and decreased HDL cholesterol levels were identified as independent factors for subclinical atherosclerotic disease. No disease-related factors were associated with increased subclinical arteriosclerosis. CONCLUSION: Carotid ultrasound and CACscore are useful for identifying subclinical atheromatosis in patients with SSc and are superior compared to risk charts used for general population. HDL cholesterol and age were independent factors for the presence of subclinical atherosclerotic disease. A carotid ultrasound or CT should be performed for early detection of subclinical atheromatosis if these factors are present.

Increased myo-inositol in parietal white and gray matter as a biomarker of poor prognosis in neuropsychiatric lupus: a case report.

Neuropsychiatric manifestations can be a serious complication of systemic lupus erythematosus, affecting nearly 56% of these patients. Frequently, acceptable clinical outcome is observed in neurolupus with immunosuppressive therapy. Different metabolites identified with MR spectroscopy may be associated with modifications in the natural history of this disease, specifically in the central nervous system. We report a case of neurolupus with progressive neurologic impairment despite aggressive immunosuppressive treatment. We describe clinical features, laboratory and MRI results, as well as characteristic findings on MR spectroscopy. Serial MRI identified atrophy of the left temporal lobe. MR spectroscopy showed an increase of myo-inositol/creatine ratio intensity, accompanied by a decrease of N-acetylaspartate/creatine ratio in both parietal white and gray matter. During follow-up, the patient developed progressive cognitive deficiency despite the intensification of therapy. Neurolupus manifestations are common and immunosuppressive treatment often avoids severe complications. Characteristic findings on MR spectroscopy may be useful for clinicians to determine poor prognosis and resistance to therapy.

Anti-ganglioside antibodies in patients with systemic lupus erythematosus and neurological manifestations.

INTRODUCTION: Anti-ganglioside antibodies (AGA) have been associated with several peripheral neuropathies, such as Miller-Fisher syndrome, Guillain-Barré syndrome and multifocal motor neuropathy. They have also been studied in patients with systemic lupus erythematosus (SLE), focusing on neuropsychiatric manifestations and peripheral neuropathy, but the results are contradictory. OBJECTIVE: To study the presence of AGA in a large cohort of patients with SLE and neuropsychiatric manifestations. PATIENTS AND METHODS: Serum from 65 consecutive patients with SLE and neuropsychiatric manifestations, collected from 1985 to 2009, was tested for the presence of AGA antibodies (GM1, GM2, GM3, asialo-GM1 GD1a, GD1b, GD3, GT1b, GQ1b) using a standard enzyme-linked immunosorbent assay ELISA test (INCAT 1999) and thin layer chromatography (TLC). RESULTS: Positive results for asialo-GM1 (IgM) were found in 10 patients, 6 were positive for asialo-GM1 (IgM and IgG), and 4 were positive for other AGA such as GM1, GM2, GM3, GD1b, GT1b, GD3, (mainly IgM). CONCLUSIONS: Clinical and statistical studies showed no correlation between AGA and neuropsychiatric manifestations of SLE. Although some patients showed reactivity to AGA, these antibodies are not a useful marker of neuropsychiatric manifestations in SLE patients.

Aortic involvement in giant cell arteritis.

Giant cell arteritis (GCA) is a primary large-vessel vasculitis predominantly seen in the elderly that preferentially involves the external carotid artery and its branches. However, inflammation of the aorta and its branches occurs in a subset of patients although symptoms of aortic involvement may appear years after the initial diagnosis of GCA. Therefore, aortic involvement has probably been underestimated and its incidence may be more frequent than suspected. Systematic evaluation of patients with imaging techniques such as magnetic resonance imaging angiography (MRA) and positron emission tomography (PET) may reveal that the clinical impact of extracranial involvement by GCA may be more relevant than previously thought. Regarding the histopathology, there are some similarities between chronic periaortitis (including idiopathic retroperitoneal fibrosis, inflammatory abdominal aortic aneurysms and perianeurysmal retroperitoneal fibrosis), idiopathic aortitis, and GCA, suggesting that all these illnesses probably share common pathological mechanisms. Inflammatory aortitis can arise in different clinical settings been idiopathic aortitis more frequent than expected in surgical specimens of aortic aneurysm surgeries in the general population. In the setting of GCA an early diagnosis of aortic involvement is mandatory in order to perform a treatment capable of avoiding the chronic and acute complications associated with an elevated mortality [1, 2].

DNase 1 activity in patients with systemic lupus erythematosus: relationship with epidemiological, clinical, immunological and therapeutical features.

The main objective of this study is to determine the relationship between the activity of DNase1 and the clinical and immunological features in patients with systemic lupus erythematosus (SLE). A total of 66 patients (8 men and 58 women) diagnosed with SLE according to the American College of Rheumatology (ACR) SLE classification criteria were included in the study. Sixty-two sera from healthy blood donors were also included as controls. Epidemiological, clinical, immunological and therapeutical features for each patient were obtained. Disease activity was assessed using the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). DNase1 activity was determined by using a radial enzyme diffusion method. Statistical analysis was performed using SPSS 12.0 software, with significant P value <0.05. Dnase1 activity was lower in patients with SLE than in the control group: 13.69 +/- 8.52 mug/mL vs 24.75 +/- 12.32 mug/mL, respectively (P < 0.005). No statistical relationship was found between DNase1 activity and disease evolution time, hypertension, presence of absolute or relative proteinuria, SLEDAI, new clinical manifestations, anti-Ro antibodies, anti-La antibodies, anti-RNP antibodies, anti-DNA antibodies, anti-cardiolipin antibodies, lupus anticoagulant, or with the treatment pattern received by the patients. Although important differences in DNase1 activity were found between patients with or without anti-Sm antibodies, they did not reach statistical significance. DNase1 activity was significantly lower in patients with SLE. Nevertheless, we did not find further relationships with any other of the epidemiological, clinical, immunological or therapeutical variables considered.

[A pancreatic pseudotumour of tuberculous etiology]. / Seudotumor pancreático de etiología tuberculosa.

BACKGROUND: To review the clinical findings of pancreatic tuberculosis and to establish a differential diagnosis with pancreatic tumours. PATIENTS AND METHODS: To describe three cases of pancreatic tuberculosis diagnosed in a 850 bed teaching hospital during the last two years. RESULTS: In the three case the imaging procedures showed a pancreatic mass with hypodense area. One of the cases was erroneously initially diagnosed of a pancreatic tumour. In one case was diagnosed by a subcutaneous abscess puncture, in another by clinical suspicion and in third patient by laparotomy. Only one patient was immunosuppressed. All patients were cured with standard antituberculous therapy. CONCLUSIONS: Pancreatic tuberculosis should be considered in patients presenting with pancreatic tumours.