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1.  Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis 
Arthritis Research & Therapy  2012;14(3):R154.
Introduction
The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc).
Methods
In total, 2,670 SSc patients and 3,245 healthy individuals from four European populations (Spain, Germany, The Netherlands, and Italy) were included in the study. Five single-nucleotide polymorphisms (SNPs) of CD40 (rs1883832, rs4810485, rs1535045) and CD40LG (rs3092952, rs3092920) were genotyped by using a predesigned TaqMan allele-discrimination assay technology. Meta-analysis was assessed to determine whether an association exists between the genetic variants and SSc or its main clinical subtypes.
Results
No evidence of association between CD40 and CD40LG genes variants and susceptibility to SSc was observed. Similarly, no significant statistical differences were observed when SSc patients were stratified by the clinical subtypes, the serologic features, and pulmonary fibrosis.
Conclusions
Our results do not suggest an important role of CD40 and CD40LG gene polymorphisms in the susceptibility to or clinical expression of SSc.
doi:10.1186/ar3890
PMCID: PMC3446540  PMID: 22731751
2.  Central retinal artery occlusion in Wegener's granulomatosis: a diagnostic dilemma 
Purpose
To report a case of central retinal artery occlusion (CRAO) in a patient with biopsy-verified Wegener's granulomatosis (WG) with positive C-ANCA.
Methods
A 55-year-old woman presented with a 3-day history of acute painless bilateral loss of vision; she also complained of fever and weight loss. Examination showed a CRAO in the left eye and angiographically documented choroidal ischemia in both eyes.
Results
The possibility of systemic vasculitis was not kept in mind until further studies were carried out; methylprednisolone pulse therapy was then started. Renal biopsy disclosed focal and segmental necrotizing vasculitis of the medium-sized arteries, supporting the diagnosis of WG, and cyclophosphamide pulse therapy was administered with gradual improvement, but there was no visual recovery.
Conclusion
CRAO as presenting manifestation of WG, in the context of retinal vasculitis, is very uncommon, but we should be aware of WG in the etiology of CRAO. This report shows the difficulty of diagnosing Wegener's granulomatosis; it requires a high index of suspicion, and we should obtain an accurate medical history and repeat serological and histopathological examinations. It emphasizes that inflammation of arteries leads to irreversible retinal infarction, and visual loss may occur
doi:10.1007/s12348-010-0003-9
PMCID: PMC3102859  PMID: 21484179
Central retinal artery occlusion; Kidney failure; Retinal vasculitis; Wegener's granulomatosis
3.  Central retinal artery occlusion in Wegener's granulomatosis: a diagnostic dilemma 
Purpose
To report a case of central retinal artery occlusion (CRAO) in a patient with biopsy-verified Wegener's granulomatosis (WG) with positive C-ANCA.
Methods
A 55-year-old woman presented with a 3-day history of acute painless bilateral loss of vision; she also complained of fever and weight loss. Examination showed a CRAO in the left eye and angiographically documented choroidal ischemia in both eyes.
Results
The possibility of systemic vasculitis was not kept in mind until further studies were carried out; methylprednisolone pulse therapy was then started. Renal biopsy disclosed focal and segmental necrotizing vasculitis of the medium-sized arteries, supporting the diagnosis of WG, and cyclophosphamide pulse therapy was administered with gradual improvement, but there was no visual recovery.
Conclusion
CRAO as presenting manifestation of WG, in the context of retinal vasculitis, is very uncommon, but we should be aware of WG in the etiology of CRAO. This report shows the difficulty of diagnosing Wegener's granulomatosis; it requires a high index of suspicion, and we should obtain an accurate medical history and repeat serological and histopathological examinations. It emphasizes that inflammation of arteries leads to irreversible retinal infarction, and visual loss may occur
doi:10.1007/s12348-010-0003-9
PMCID: PMC3102859  PMID: 21484179
Central retinal artery occlusion; Kidney failure; Retinal vasculitis; Wegener's granulomatosis

Results 1-3 (3)