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Simone Appenzeller

Publications and source records attributed to Simone Appenzeller.

At least 19 recordsLinked to original sources
PubMed2026

Clinical Features and Outcome Measures Across Still Disease (Systemic Juvenile Idiopathic Arthritis and Adult-Onset Still Disease) Cohorts Worldwide: A Systematic Literature Review.

OBJECTIVE: Multinational research is essential to improve recognition and management of systemic juvenile idiopathic arthritis (sJIA). Current cohorts vary in the clinical variables and outcome measures collected. Adult-onset Still disease (AOSD) and sJIA are widely considered to comprise a single disease spectrum; however, classification criteria and clinical tools differ between groups. This systematic literature review aimed to identify clinical features and outcome measures collected across sJIA and AOSD cohorts worldwide to guide the development of a minimal dataset for Still disease. METHODS: A literature search was conducted from 2000 to 2024 using Ovid MEDLINE, Embase, and Wiley Cochrane Library (Trials). Included articles were in English and described sJIA or AOSD cohorts of ≥ 20 patients, reporting patient characteristics, clinical and laboratory features, and outcome measures. RESULTS: A total of 240 articles were included (95 sJIA, 134 AOSD, 11 mixed), from 37 countries, describing 23,136 patients. International League of Associations for Rheumatology classification was used in 77.9% of sJIA studies, whereas 98.5% of AOSD studies used Yamaguchi criteria. There was no clear consensus on the definition of macrophage activation syndrome. Race and ethnicity were only reported in 11.7% of articles. Cohorts evaluated aligned on the most commonly collected laboratory items for both AOSD and sJIA, with some agreement among clinical features, whereas disease outcome measures used to evaluate and follow disease trajectory were variable. CONCLUSION: Data reporting across sJIA and AOSD cohorts for clinical characteristics and outcome measures is widely heterogeneous. Consensus on the identification of a standardized minimal dataset for Still disease cohorts is needed to foster future collaboration and improve patient outcomes.

Humans↗
PubMed2007

Skin damage occurs early in systemic lupus erythematosus and independently of disease duration in Brazilian patients.

To determine if skin damage is related to disease duration in Brazilian patients with SLE followed in a tertiary reference center through the application of standardized damage index (SLICC/ACR-DI). Sixty SLE patients were enrolled in this study. Relevant data were obtained through patients' interview, physical and laboratory examinations and review of the hospital records. The frequency and the different types of organ damage were determined using de SLICC/ACR-DI. Statistics were performed through chi-square and Student's t tests. Multivariate regression was used to correlate damage with disease duration. Forty-one (68.3%) patients presented any type of cumulative organ damage. The skin (35%), renal (23.3%) and neuropsychiatric (18.3%) systems were the most frequently involved, followed by peripheric vascular, ocular and cardiovascular systems. Non-Caucasoid patients and patients with longer disease duration had a slight tendency for greater organ damage (P = 0.05). Skin damage occurred independently of disease duration, whereas cardiovascular (P = 0.051), peripheral vascular (P = 0.057) and pulmonary damage (P = 0.06) had a tendency to occur more frequently in patients with longer disease duration. In this study, 68.3% of permanent damage was observed. An elevated frequency of skin damage was observed in this population which occurred independently of disease duration. Non-Caucasian patients had a tendency to present higher scores, but more studies are necessary to determine if ethnic or economic factors are involved.

Adolescent↗
PubMed2006

Longitudinal analysis of gray and white matter loss in patients with systemic lupus erythematosus.

Cerebral atrophy has been described to occur in systemic lupus erythematosus (SLE) with variable frequency. The aim of this study was to determine white and gray matter abnormalities in brain magnetic resonance imaging (MRI) of patients with SLE and to determine if these abnormalities progress over a one-year period. Seventy-five patients with SLE and 44 healthy age and sex-matched controls were enrolled in this study. T1-weighted volumetric images were used for voxel based morphometry (VBM) analyses. SLE patients exhibited a significant reduction in white matter and gray matter volume compared to controls (p=0.001). Follow-up images, after an average interval of 19 months, revealed a progressive white matter and gray matter atrophy (p=0.001). Reduced white and gray matter volume was associated with disease duration and the presence of antiphospholipid antibodies. Patients with severe cognitive impairment had a more pronounced white and gray matter reduction than patients with moderate cognitive impairment. Total corticosteroid dose was associated with gray matter reduction and not with white matter loss in SLE patients. We concluded that brain tissue loss associated with SLE is significant and progresses over a relatively short period of time. Disease duration, the presence of antiphospholipid antibodies and cognitive impairment were associated with white and gray matter loss. Corticosteroid was associated only with gray matter atrophy.

Adolescent↗
PubMed2006

Acute dermatomyositis with subcutaneous generalized edema.

The authors report a 40-year-old Caucasian man with relapsing muscle and skin involvement of dermatomyositis treated with high-dose corticosteroids, taken orally, and methotrexate and human gamma globulin, both administered intravenously. After 4 months of aggressive treatment, he presented with generalized edema, considered secondary to dermatomyositis. Aggressive immunosuppression did not stop disease progression. The literature concerning anasarca due to inflammatory myopathies is revised.

Acute Disease↗
PubMed2006

Gray matter atrophy associated with duration of temporal lobe epilepsy.

Hippocampal sclerosis is the most common abnormality associated with medial temporal lobe epilepsy (MTLE). Converging evidence supports that hippocampal sclerosis progresses with time. However, it is unclear whether extrahippocampal atrophy in patients with MTLE, similarly to hippocampal sclerosis, is an unremitting progressive process. In this article, we investigate the relationship between duration of epilepsy and gray matter concentration reduction in patients with MTLE within and outside the hippocampus. We employed a voxel-based morphometry study of MRI of the entire brain of 36 patients with drug refractory MTLE and 49 neurologically healthy age-matched controls. We performed a voxel-based parametric and nonparametric investigation of the association between gray matter concentration, age and duration of epilepsy. We complemented the investigation by extracting the gray matter concentration of regions of interest (ROIs) within the limbic system, and we investigated the association between the gray matter concentration on the ROIs and duration of epilepsy. Patients with MTLE exhibited gray matter concentration reduction that is negatively correlated with the duration of epilepsy within the ipsilateral hippocampus, temporal lobes as well as extratemporal limbic structures that are closely connected with the hippocampus. In conclusion, longer duration of refractory epilepsy was associated with a more intense hippocampal and extrahippocampal atrophy in patients with MTLE. The mechanism of progressive neuronal damage in MTLE may be related to active seizure activity within a limbic network, and early seizure control may prevent further brain atrophy in patients with refractory MTLE.

Adolescent↗
PubMed2006

Focal transient lesions of the corpus callosum in systemic lupus erythematosus.

Focal lesions limited to the splenium of the corpus callosum are rare and little is known about their etiology. We describe three patients with systemic lupus erythematosus (SLE) that presented transient lesions of the corpus callosum. We reviewed three patients with SLE whose magnetic resonance imaging (MRI) results revealed focal lesions in the splenum of corpus callosum. The medical records, including clinical, serological, and treatment features, were reviewed to determine the etiology of these lesions. Of 115 patients who had MRI for research purposes, three patients with focal nonhemorrhagic lesions of the corpus callosum were identified. All patients had active SLE at the time of MRI. One patient had other findings on MRI, including cerebral venous thrombosis. On follow-up MRI, patients had an inactive disease and the corpus callosum lesions disappeared. A transient lesion in the splenium of corpus callosum seems to be a nonspecific endpoint of different disease processes leading to vasogenic edema. The complete and rapid reversibility in all cases with disease control is emphasized and any invasive diagnostic or therapeutic approach is discouraged.

Adolescent↗
PubMed2006

Neurolupus.

Explore the source record for details and available documents.

Brain Diseases↗
PubMed2006

Amygdalae calcifications associated with disease duration in lipoid proteinosis.

OBJECTIVES: To describe imaging findings of central nervous system involvement in patients with lipoid proteinosis. METHODS: Patients with lipoid proteinosis followed in the dermatology and neurology departments of the State University of Campinas between 2002 and 2004 were evaluated using high-resolution MRI and computerized tomography (CT). RESULTS: We reviewed the charts of three patients (two women) with lipoid proteinosis with, ages ranging from 5 to 44 years. Symptomatic disease duration ranged from 2 to 39 years. MRI scans showed hypointense signal in FLAIR and T2 images in the amygdalae in two of three patients. Brain CT scans from two patients showed that MRI findings were calcifications. The calcification was more evident in patients with longer disease duration. Epilepsy was identified in one patient with longer disease duration. No other epileptogenic lesion was identified on MRI in this patient. CONCLUSION: Lipoid proteinosis is associated with bilateral amygdalae calcification. These findings were more evident in patients with longer disease duration. Epilepsy, when present, may be related to these calcifications. Patients with lipoid proteinosis should be followed with MRI/CT in order to identify these abnormalities.

Adult↗
PubMed2005

Sporothrix schenckii infection presented as monoarthritis: report of two cases and review of the literature.

Septic arthritis demands early diagnosis and correct treatment if the function of the joint is to be restored. Sometimes, as in fungal infection, signs and symptoms may be mild and the diagnosis delayed. Nevertheless, the outcome of fungal arthritis is severe and usually causes joint disability. The authors report two patients with chronic monoarthritis due to Sporothrix schenckii infection diagnosed by synovial fluid cultures. Their clinical presentation, laboratory and image findings, and their treatment and follow-up are analyzed and compared to previously reported cases. These cases illustrate the differential diagnosis of monoarthritis in immunocompetent adults and picture clinical features that could lead to early diagnosis and proper treatment.

Adult↗
PubMed2005

Isolated pulmonary hypertension secondary to rheumatoid arthritis.

The authors report a case of a woman with pulmonary hypertension secondary to rheumatoid arthritis, whose treatment with azathioprine resulted in normalization of pulmonary artery pressure and resolution of clinical symptoms. Different etiologies for pulmonary hypertension are discussed and literature review is presented.

Adult↗
PubMed2005

Brain tumor-like lesion in Behçet disease.

We report a patient with longstanding Behçet disease who presented sudden onset of headache and facial paresis. The magnetic resonance imaging (MRI) showed a mass in the right thalamus, extending to the lentiform nucleus, subthalamic area, right cerebral peduncle and deep subcortical white matter. Stereotactic brain biopsy disclosed gliosis with no signs of malignancy. The diagnosis of a pseudotumoral form of neuro-Behçet disease was done and she was treated with pulse methylpredinisolone and intravenous cyclophosphamide. After 8 weeks she had improved and a new MRI showed disappearance of the tumor-like lesion. The differential diagnosis, especially with central nervous system tumor is emphasized.

Adult↗
PubMed2005

Evidence of reversible axonal dysfunction in systemic lupus erythematosus: a proton MRS study.

Our objective was to investigate axonal dysfunction in patients with systemic lupus erythematosus (SLE) using proton magnetic resonance spectroscopy (1H-MRS). We studied prospectively 90 SLE patients (mean age of 32.5 years) and 23 normal volunteers (mean age of 33.8 years). We performed single voxel proton MRS using point resolved spectroscopy sequence over the superior-posterior region of the corpus callosum. We measured signals from N-acetyl compounds [N-acetylaspartate (NAA)] at 2.01 p.p.m., choline-based compounds (Cho) at 3.2 p.p.m. and creatine and phosphocreatine containing compounds (Cr) at 3.0 p.p.m. and determined NAA/Cr ratios. After 12 months, MRI and MRS were repeated in 50 patients and 9 volunteers. Patients were divided according to disease activity (measured by SLE disease activity index) during initial and follow-up MRS. We performed paired t-test and ANOVA with Tukey's post hoc comparisons to evaluate group differences. At study entry, 29 patients had active SLE with involvement of central nervous system (CNS) and 28 patients had active SLE without CNS manifestations. A total of 14 patients had inactive SLE with past CNS presentation, and 19 had inactive SLE without history of CNS involvement. NAA/Cr ratios were significant lower in patients with active SLE, independently of CNS involvement, when compared with patients with inactive SLE (P = 0.005) and controls (P = 0.01). We observed a significant increase in NAA/Cr ratio in 15 patients who had active SLE at initial MRS and inactive SLE at follow-up (P = 0.04). In 10 patients with active SLE both at initial and at follow-up MRS we observed a reduction in NAA/Cr ratio (P = 0.02). By contrast, there was a significant reduction of NAA/Cr ratio in 15 patients who had inactive SLE at initial MRS and active SLE at follow-up (P = 0.001). In 10 patients with inactive SLE both at initial and at follow-up MRS NAA/Cr ratio did not change (P = 0.2). This study shows evidence of axonal dysfunction in patients with active SLE, independently of CNS manifestations that may be reversible, at least in part, during periods of inactivity of disease.

Adult↗
PubMed2005

Damage did not independently influence mortality in childhood systemic lupus erythematosus.

OBJECTIVE: To analyze clinical, laboratory and treatment features associated with death in a childhood-onset SLE population. PATIENTS AND METHODS: Patients with childhood-onset SLE followed at the State University of Campinas, Brazil, between 1980 and 2002 were included. Data on clinical and laboratory features of the disease were collected regularly. Logistic regression was used for analyzing association between clinical and laboratory features and death. Kaplan-Meyer tests were used to estimate the survival curves. RESULTS: Of 61 patients identified, six were lost to follow-up during the first year of disease. The mean follow-up period of the remaining 55 patients was 3.25 years (SD=1.2). Mean SLICC/ACR-DI score was 4.9 (SD=3.4). Death occurred in 12 (21.8%) of 55 patients. Direct causes of death were: infection in six (50%), stroke in four (33.3%), and renal insufficiency in two (16.7%). Five patients (41.7%) died during the first 5 years of disease due to infection. Male gender (p=0.004; OR=9.1; 95% CI=7.6-21.0), infection (p=0.001; OR=4.2; 95% CI=1.6-15.2) and nephritis (p=0.02; OR=2.3; 95% CI=1.3-5.2) were independent factors associated with death in the multivariate analysis. The global survival rate adjusted for duration of disease was 93.9% in the first year of disease, 88.9% in the second year, 80.8% in the fifth year and 48.1% in 20 years of follow-up. When comparing survival curves, male gender, the presence of infection during the course of the disease and the presence of nephritis during follow-up had a worse survival. CONCLUSION: Male gender, the presence of infection and nephritis were independent risk factors for death in our Brazilian cohort. Damage did not independently influence survival in this study.

Adolescent↗
PubMed2005

Camurati-Engelmann disease: failure of response to bisphosphonates: report of two cases.

Camurati-Engelmann disease is a rare bone disorder characterized by cortical thickening of the diaphysis of tubular bones, with sparing of the epiphysis. It has variable degrees of penetrance and expression, but may be very disabling for the affected individuals who manifest the painful symptoms. The authors report on two women with typical presentation of severe Camurati-Engelmann disease whose treatment with bisphosphonates failed to add any improvement beyond that elicited by corticosteroids alone.

Adult↗
PubMed2005

Cerebral and corpus callosum atrophy in systemic lupus erythematosus.

OBJECTIVE: To determine cerebral and corpus callosum volumes in patients with systemic lupus erythematosus (SLE), using semiautomatic magnetic resonance imaging (MRI) volumetric measurements, and to determine possible relationships between a reduction in cerebral volume and disease duration, total corticosteroid dose, neuropsychiatric manifestations, and the presence of antiphospholipid antibodies. METHODS: We studied 115 consecutive patients with SLE and 44 healthy volunteers. A complete clinical, laboratory, and neurologic evaluation was performed. MRI scans were obtained through a standardized protocol. Sagittal T1-weighted images were used for semiautomatic volumetric measurements. We compared SLE patients with controls using the 2-sample t-test. Analysis of variance was used to test for differences between groups, followed by Tukey's post hoc test for pairwise comparisons, when necessary. Linear regression was used to analyze the association between cerebral atrophy and disease duration and total corticosteroid dose. RESULTS: Cerebral and corpus callosum volumes were significantly smaller in patients with SLE compared with healthy volunteers (P < 0.001). Reduced cerebral and corpus callosum volumes were related to disease duration (P < 0.001). Patients with a history of central nervous system (CNS) involvement more frequently had a reduction in cerebral and corpus callosum volumes (P < 0.001). Patients with cognitive impairment had significantly reduced corpus callosum and cerebral volumes when compared with SLE patients without cognitive impairment (P = 0.001). Cerebral and corpus callosum volumes were not associated with the total corticosteroid dose or the presence of antiphospholipid antibodies. CONCLUSION: In patients with SLE, a reduction in cerebral and corpus callosum volumes is associated with disease duration, a history of CNS involvement, and cognitive impairment. The total corticosteroid dose and the presence of antiphospholipid antibodies were not associated with more pronounced atrophy.

Adult↗
PubMed2005

Adult-onset Still disease in southeast Brazil.

BACKGROUND: Adult-onset Still disease (AOSD) has been described all over the world. Clinical presentations and prognosis have varied in different studies. OBJECTIVE: The objective of this study was to determine the clinical presentation and the evolution of AOSD at a tertiary referral center in southeast Brazil. METHODS: The clinical records of 16 patients were retrospectively studied to determine symptoms at diagnosis, follow up, and the medication prescribed. RESULTS: The mean age at onset was 30.8 years (range, 24-55 years; standard deviation [SD], 9.2 years) with a slight male prevalence (54.2%). All patients presented constitutional symptoms, fever, and skin rash. Liver involvement was observed in all cases, with hepatomegaly in 81.3%, increased liver enzymes in 50.0%, and hypergammaglobulinemia in 68.8%. Cardiac involvement was observed in 12.6%, pleuritis in 6.3%, and renal involvement in 25.0%. All patients presented leukocytosis with a predominance of neutrophils. Elevated ferritin levels were observed in 56.3%, and these levels were normalized after disease remission. Initial treatments included nonsteroidal antiinflammatory drugs and low-dosage corticosteroids in all patients; 43.8% also needed methotrexate. In 25.0% of cases, a monocyclic disease was observed; others had recurrent episodes. After a follow up of 6.9 years (SD, 1.2 years), carpal ankylosis was the main articular sequel, observed in 53.6% of the patients. CONCLUSION: AOSD is rare in southeast Brazil. Although less severe systemic manifestations, like serositis and pneumonitis, were observed, reversible liver involvement was common; the frequency of recurrent disease and carpal ankylosis was higher than in previous studies.

Adult↗
PubMed2004

Epileptic seizures in systemic lupus erythematosus.

OBJECTIVE: To evaluate the frequency and risk factors of epileptic seizures in a large cohort of patients with systemic lupus erythematosus (SLE). METHODS: Five hundred nineteen consecutive patients with SLE were studied, with follow-up ranging from 4 to 7.8 years. The type and frequency of risk factors associated with acute and recurrent epileptic seizures in SLE were determined. RESULTS: Sixty (11.6%) patients with epileptic seizures were identified. Epileptic seizures occurred at the onset of SLE symptoms in 19 (31.6%) and after the onset of SLE in 41 of 60 (68.3%) patients. Fifty-three of 60 (88.3%) patients had acute symptomatic epileptic seizures, and 7 of 60 (11.7%) had recurrent epileptic seizures. Variables associated with acute epileptic seizures at SLE onset were stroke (p = 0.0004) and antiphospholipid antibodies (p = 0.0013). Epileptic seizures during follow-up were related to nephritis (p = 0.001), antiphospholipid antibodies (p = 0.005), and epileptic seizures at disease onset (p = 0.00001). All seven patients who presented recurrent epileptic seizures had antiphospholipid syndrome and interictal epileptic abnormalities on EEG. CONCLUSIONS: Epileptic seizures were observed in 11.2% of systemic lupus erythematosus (SLE) patients. Antiphospholipid antibodies and stroke were related to epileptic seizures at SLE disease onset. Patients with renal flares, epileptic seizures at SLE disease onset, and antiphospholipid antibodies were at greater risk for acute symptomatic seizures during follow-up. Recurrence of epileptic seizures occurred in 1.3% of patients and was associated with antiphospholipid syndrome.

Adolescent↗