28 research outputs found
Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature
Macrophage activation syndrome (MAS) is a potentially fatal
condition. It is a rare complication of several autoimmune
disorders, including systemic lupus erythematosus (SLE) and
systemic juvenile idiopathic arthritis (sJIA). The incidence of
MAS associated with SLE is about 0.9–4.6% [1]. MAS is a
multifarious disease, presenting with several signs and symptoms, including high fever, hepatomegaly, splenomegaly,
hemorrhagic manifestations (e.g., purpura), and dysfunction
of the central nervous system, like lethargy. Furthermore,
MAS is characterized by several alterations in laboratory tests,
including pancytopenia, hypofibrinogenemia, hypertriglyceridemia, and hyperferritinemia.
MAS is classified among the group of hemophagocytic
lymphohistiocytosis (HLH), which includes familial HLH
and secondary HLH. Secondary HLH is triggered by several causes, including infection, drugs, malignancy, and
rheumatic disorder [2].
We report a rare case of MAS that occurred as first
manifestation of SLE treated with high dose intravenous
methylprednisolone and oral cyclosporine
A case of tension-type headache in fibromyalgia
Ref.: Ms. No. TJHP-D-10-00029R1
A 57 years-old-woman was admitted to our ward for a daily tension-type headache, non responsive to usual pharmacological treatment. Five years ago she underwent a hysterectomy. Since then, she referred muscular rigor of the neck and the shoulder girdle, intense constrictive pain localized in the occipital spine. She also reported weakness of the upper and lower limbs, tingling, tremors and difficulties in walking and climbing. She referred widespread pain, unusually severe, above all at joints and muscles, without any sign of inflammation at clinical examination. The diagnosis of a connective tissue was excluded, remaining the diagnosis of tension-type headache in Fibromyalgia the most probable one. The patient has been treated with antidepressants, anxiolytics, and antiepileptic drugs with improvement of the symptoms
Single Cell RNA Sequencing Identifies HSPG2 and APLNR as Markers of Endothelial Cell Injury in Systemic Sclerosis Skin
Objective: The mechanisms that lead to endothelial cell (EC) injury and propagate the vasculopathy in Systemic Sclerosis (SSc) are not well understood. Using single cell RNA sequencing (scRNA-seq), our goal was to identify EC markers and signature pathways associated with vascular injury in SSc skin.Methods: We implemented single cell sorting and subsequent RNA sequencing of cells isolated from SSc and healthy control skin. We used t-distributed stochastic neighbor embedding (t-SNE) to identify the various cell types. We performed pathway analysis using Gene Set Enrichment Analysis (GSEA) and Ingenuity Pathway Analysis (IPA). Finally, we independently verified distinct markers using immunohistochemistry on skin biopsies and qPCR in primary ECs from SSc and healthy skin.Results: By combining the t-SNE analysis with the expression of known EC markers, we positively identified ECs among the sorted cells. Subsequently, we examined the differential expression profile between the ECs from healthy and SSc skin. Using GSEA and IPA analysis, we demonstrated that the SSc endothelial cell expression profile is enriched in processes associated with extracellular matrix generation, negative regulation of angiogenesis and epithelial-to-mesenchymal transition. Two of the top differentially expressed genes, HSPG2 and APLNR, were independently verified using immunohistochemistry staining and real-time qPCR analysis.Conclusion: ScRNA-seq, differential gene expression and pathway analysis revealed that ECs from SSc patients show a discrete pattern of gene expression associated with vascular injury and activation, extracellular matrix generation and negative regulation of angiogenesis. HSPG2 and APLNR were identified as two of the top markers of EC injury in SSc
Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis
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miR-155 in the progression of lung fibrosis in systemic sclerosis
Background\ud
MicroRNA (miRNA) control key elements of mRNA stability and likely contribute to the dysregulated lung gene expression observed in systemic sclerosis associated interstitial lung disease (SSc-ILD). We analyzed the miRNA gene expression of tissue and cells from patients with SSc-ILD. A chronic lung fibrotic murine model was used.\ud
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Methods\ud
RNA was isolated from lung tissue of 12 patients with SSc-ILD and 5 controls. High-resolution computed tomography (HRCT) was performed at baseline and 2–3 years after treatment. Lung fibroblasts and peripheral blood mononuclear cells (PBMC) were isolated from healthy controls and patients with SSc-ILD. miRNA and mRNA were analyzed by microarray, quantitative polymerase chain reaction, and/or Nanostring; pathway analysis was performed by DNA Intelligent Analysis (DIANA)-miRPath v2.0 software. Wild-type and miR-155 deficient (miR-155ko) mice were exposed to bleomycin.\ud
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Results\ud
Lung miRNA microarray data distinguished patients with SSc-ILD from healthy controls with 185 miRNA differentially expressed (q < 0.25). DIANA-miRPath revealed 57 Kyoto Encyclopedia of Genes and Genomes pathways related to the most dysregulated miRNA. miR-155 and miR-143 were strongly correlated with progression of the HRCT score. Lung fibroblasts only mildly expressed miR-155/miR-21 after several stimuli. miR-155 PBMC expression strongly correlated with lung function tests in SSc-ILD. miR-155ko mice developed milder lung fibrosis, survived longer, and weaker lung induction of several genes after bleomycin exposure compared to wild-type mice.\ud
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Conclusions\ud
miRNA are dysregulated in the lungs and PBMC of patients with SSc-ILD. Based on mRNA-miRNA interaction analysis and pathway tools, miRNA may play a role in the progression of the disease. Our findings suggest that targeting miR-155 might provide a novel therapeutic strategy for SSc-ILD
Premio miglior poster
A 46-year-old woman with a long history of headache came to our observation for suspected TIA. The patient was a homozygote carrier of mutation in MTHFR gene, she also suffered from polyendocrine syndrome. The temporal reconstruction of the events, the neurological examination and the instrumental tests allowed us to make the diagnosis of "sporadic hemiplegic migraine”. A malignancy of the kidney was diagnosed during the admission
MACROPHAGE ACTIVATION SYNDROME AS A PRESENTING FEATURE OF SYSTEMIC LUPUS ERYTHEMATOSUS
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Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature
Macrophage activation syndrome (MAS) is a potentially fatal condition. It belongs to the hemophagocytic lymphohistiocytosis group of diseases. In adults, MAS is rarely associated with systemic lupus erythematosus, but it also arises as complication of several systemic autoimmune disorders, like ankylosing spondylitis, rheumatoid arthritis, and adult-onset Still’s disease. Several treatment options for MAS have been reported in the literature, including a therapeutic regimen of etoposide, dexamethasone, and cyclosporine. Here we report a case of 42-year-old woman in whom MAS occurred as onset of systemic lupus erythematosus