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Jan 2018 DOI 10.14302/issn.2470-5020.jnrt-17-1926
Nagel SimonCorresponding author
Department of Neurology, University of Heidelberg, Germany
Since the first description in 2013, 39 cases of anti-DPPX-encephalitis have been described. Main features of this autoimmune encephalitis characterized by antibodies against the potassium-channel-associated regulatory protein DPPX are gastrointestinal symptoms, cognitive dysfunction and signs of CNS hyperexcitability. While the majority of patients responds to immunotherapy relapses are frequent and often successfully treated with rituximab. Here we report another case of anti-DPPX-encephalitis presenting with the above mentioned triad. However, this is the first case of anti-DPPX-encephalitis in the context of a connective tissue disease combined with cerebral arteriopathy along with brain parenchymal lesions that we interpreted as a secondary, CTD-associated cerebral vasculitis. While the latter resolved under immunosuppressive treatment, comprising glucocorticosteroids, cyclophosphamide, rituximab and plasmapheresis, deterioration of the CTD and multiple infectious complications finally led to the patient's death. As histological evidence for cerebral vasculitis is lacking, other differential diagnoses for the observed cerebral arteriopathy, especially reversible cerebral vasoconstriction syndrome, have to be considered.
Jan 2026 DOI 10.14302/issn.2470-0436.jos-25-5905
Al-Yarabi MohammedCorresponding author
Purpose To report a rare case of Mooren’s ulcer in a healthy young male without systemic autoimmune disease, and to highlight the effectiveness of conjunctival resection as therapy for cases unresponsive to medical management. Case report A 34-year-old immunocompetent male presented with progressive peripheral corneal ulceration in the left eye. Extensive systemic and infectious evaluations, including rheumatologic, immunologic, and microbiological testing, were unremarkable. Human leukocyte antigen genotyping was DR17(03)-negative and DQ2-positive. Rheumatological evaluation yielded no definitive systemic diagnosis. Despite immunosuppressive therapy with adjuvant medications, the epithelial defect and stromal inflammation persisted. The patient underwent conjunctival resection, resulting in marked reduction in inflammation, rapid re-epithelialization, and structural stabilization of the cornea. Histopathology of excised conjunctiva showed nonspecific inflammation without granulomatous changes, vasculitis, or neoplastic features. During follow-up, patient remained in remission with visual acuity preserved at 6/6 bilaterally and no recurrence. Conclusion Mooren’s ulcer is rare but vision-threatening. Early recognition, comprehensive evaluation, and timely surgical intervention can be vision-saving. This case highlights the role of a multidisciplinary approach and supports conjunctival resection as a useful adjunct in refractory disease. Long-term follow-up is essential.
Aug 2023
Almabadi BayanCorresponding author
DADA2 (deficiency of adenosine deaminase type 2) is an autoinflammatory autosomal recessive disease resulting from biallelic loss of function mutations in ADA2 gene. Clinical presentation and age of onset vary widely even among related patients, and variability of symptoms and severity manifestations include bone marrow failure, autoinflammation, immunodeficiency and vasculitis. Here, we report a case of young male with adult onset DADA2, who presented with fever, lower limbs skin rash, joint pain, and anemia resembling systemic lupus erythematous (SLE). DADA2 has an extremely variable clinical phenotype. It was described into three categories: inflammatory/vascular, immune dysregulation, and hematologic. However, the data is scant in describing autoimmunity phenotype in DADA2 and further studies are required to investigate the clinical correlation and presence of autoantibodies. We recommend genetic testing in cases with lupus-like disease especially if there is consanguinity between parents and family history of vasculitis.
Apr 2016 DOI 10.14302/issn.2474-7785.jarh-15-699
Coronado-Vázquez ValleCorresponding author
Healthcare Director, Hospital of Riotinto, Mines of Riotinto, Huelva
Purpose Hospital readmission of patients with pluripathologies is frequent and costly. This study describes the impact of patients’ pluripathologies, functional capacity and social complexity on readmissions during a 12-month period following hospital discharge. Methods A prospective cohort study. Monthly monitoring of 111 patients over 12 months in Hospital of Riotinto. The primary endpoint was readmission rate. Predictive variables: age, gender, hospitalizations the year before, illnesses that define the pluripathology, medication prescribed on discharge, social situation (Gijón Scale), functional state (Barthel) and cognitive impairment (Pfeiffer). Results Readmissions accounted for 21.6% of the patients surveyed. Of those readmitted, the mean age was lower than those who did not return to hospital (75.4 vs.79.6) (p=0.031), the average amount of medication prescribed greater (10.5 vs.8.7) (p=0.014), the Barthel score higher (52.5 vs.50.6) and the Gijón value lower (13.8 vs.14.6), but no results was significant. The mean survival time (without readmission) was 310.9 days (95% CI, 289.4-332.5). Category B (chronic renal disease and vasculitis) and F (diabetes with microangiopathy and artery disease) had a lower average survival time (X2=7.02; p=0.008) (X2=7.07; p=0.008). The readmission risk was hazard ratio (HR) = 3.13 (95% CI, 1.37-7.14) for category B, and HR = 3.38 (95% CI, 1.37-8.36) for category F. Conclusions There is a high proportion of readmissions among patients with pluripathologies in the year following discharge from hospital. The greater risk occurs in patients with chronic renal insufficiency and diabetes with microvascular complications. Factors that can be modified are polymedication and the proper control of patients’ diabetes.
Feb 2016 DOI 10.14302/issn.2374-9431.jbd-15-890
E. Buroker NormanCorresponding author
Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
Purpose Signal Transducer and Activator of Transcription 4 (STAT4) is important for signaling by interleukins (IL-12 and IL-23) and type 1 interferons and has been found to have several simple nucleotide polymorphisms (SNPs) associated with human disease. STAT4 SNPs were computationally examined with respect to changes in potential transcriptional factor binding sites (TFBS) and these changes were discussed in relation to human disease. Methods The JASPAR CORE and ConSite databases were instrumental in identifying the TFBS. The Vector NTI Advance 11.5 computer program was employed in locating all theTFBS in theSTAT4 gene from 4 kb upstream of the transcriptional start site to 8.3 kb past the 3’UTR. The JASPAR CORE database was also involved in computing each nucleotide occurrence (%) within the TFBS. Results The STAT4 SNPs in the 70 kb intron between exon 2 and 3 are in linkage disequilibrium and have previously been found to be significantly associated with several vasculitis diseases as well as diabetes. The SNP alleles were found to alter the DNA landscape for potential transcriptional factors (TFs) to attach resulting in changes in TFBS and thereby, alter which transcriptional factors potentially regulate the STAT4 gene. These STAT4 SNPs should be considered as regulatory (r) SNPs. Conclusion The alleles of each rSNP were found to generate unique TFBS resulting in potential changes in TF STAT4 regulation. These regulatory changes were discussed with respect to changes in human health that result in disease.