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Journal of Autoimmunity Oct 2022Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease. (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Behçet's disease tends to be more severe in men than women. This study was undertaken to investigate sex-specific genetic effects in Behçet's disease.
METHODS
A total of 1762 male and 1216 female patients with Behçet's disease from six diverse populations were studied, with the majority of patients of Turkish origin. Genotyping was performed using an Infinium ImmunoArray-24 BeadChip, or extracted from available genotyping data. Following imputation and extensive quality control measures, genome-wide association analysis was performed comparing male to female patients in the Turkish cohort, followed by a meta-analysis of significant results in all six populations. In addition, a weighted genetic risk score for Behçet's disease was calculated and compared between male and female patients.
RESULTS
Genetic association analysis comparing male to female patients with Behçet's disease from Turkey revealed an association with male sex in HLA-B/MICA within the HLA region with a GWAS level of significance (rs2848712, OR = 1.46, P = 1.22 × 10). Meta-analysis of the effect in rs2848712 across six populations confirmed these results. Genetic risk score for Behçet's disease was significantly higher in male compared to female patients from Turkey. Higher genetic risk for Behçet's disease was observed in male patients in HLA-B/MICA (rs116799036, OR = 1.45, P = 1.95 × 10), HLA-C (rs12525170, OR = 1.46, P = 5.66 × 10), and KLRC4 (rs2617170, OR = 1.20, P = 0.019). In contrast, IFNGR1 (rs4896243, OR = 0.86, P = 0.011) was shown to confer higher genetic risk in female patients.
CONCLUSIONS
Male patients with Behçet's disease are characterized by higher genetic risk compared to female patients. This genetic difference, primarily derived from our Turkish cohort, is largely explained by risk within the HLA region. These data suggest that genetic factors might contribute to differences in disease presentation between men and women with Behçet's disease.
Topics: Humans; Female; Male; Behcet Syndrome; Genome-Wide Association Study; Risk Factors; HLA-C Antigens; Genetic Testing
PubMed: 35987173
DOI: 10.1016/j.jaut.2022.102882 -
Frontiers in Immunology 2023Non-infectious uveitis is a complex disease characterized by intraocular inflammation of the uveal area and the leading cause of vision impairment and blindness in young...
PURPOSE
Non-infectious uveitis is a complex disease characterized by intraocular inflammation of the uveal area and the leading cause of vision impairment and blindness in young people globally. However, what triggers inflammation and contributes to its recurrence remains unclear. The complement system has been linked to various immunological and inflammatory conditions. In the present study, we have systematically evaluated the role of the alternative complement pathway in the pathogenesis of non-infectious uveitis.
METHODOLOGY
Quantitative PCR was done in the peripheral leukocytes to study the expression of genes and regulatory miRNA in both anterior and posterior uveitis (n=28 in each category). Multiplex ELISA was performed to measure alternative pathway complement components, such as C3b, factor B, and CFH, and aqueous humor of infectious and non-infectious uveitis patients and non-inflammatory controls (n=10 each). Western blotting was done to validate the ELISA findings in a subset of patients and controls.
RESULTS
Downregulation of and mRNA in the peripheral blood was shown by quantitative PCR in the group of anterior uveiits (AU), while the opposite result was found in the group of posterior uveitis (PU). ELISA levels of C3b and CFH proteins were significantly higher in aqueous humor of infectious and non-infectious uveitis (*p = 0.03 and **p = 0.0007 respectively) as compared to the control group. Western blotting further validated (VitH) the activation of the complement cascade in the aqueous (AH) and vitreous humor of patients with non-infectious uveitis, with an increased level of C3b (n=6) and CFH (n=4) in aqueous humor. C3b level was significantly increased while CFH was reduced relative to controls in the vitreous humor (VitH) of posterior uveitis patients compared to controls (n=27 in each category). A C3b to CFH ratio was computed to assess the regulation of complement activation and this index was several folds higher in both anterior and posterior uveitis (n=10 each). The expression of miRNA-hsa-miR-146a and miRNA-hsa-miR-155-5p that regulates CFH was downregulated and nicely correlated with the increased complement proteins in both anterior and posterior uveitis (n=10 each).
CONCLUSION
Our results demonstrate a clear role of CFH and the activation of the alternative complement pathway in the pathogenesis of non-infectious uveitis; however, its therapeutic potential warrants further investigations.
Topics: Humans; Adolescent; Complement Pathway, Alternative; Uveitis; Uveitis, Posterior; MicroRNAs; Inflammation
PubMed: 38187376
DOI: 10.3389/fimmu.2023.1222998 -
Acta Reumatologica Portuguesa 2020Behcet's disease (BD) is a multisystem autoimmune relapsing vasculitis with almost unknown etiology, which involves both large and small vessels. The involvement of the... (Review)
Review
INTRODUCTION
Behcet's disease (BD) is a multisystem autoimmune relapsing vasculitis with almost unknown etiology, which involves both large and small vessels. The involvement of the central nervous system (CNS) is rare, divided into two main sub-types- parenchymal nad and non-parenchymal. The peripheral nervous system is generally preserved or involved in very rare cases.
CASE REPORT
We present a rare case of neuro-Behcet's Disease (NBD) in a young 25-year-old female. The patient presented to our clinic with sudden onset complaints of general weakness, quadriparesis more prevalent for the right limbs, slurred speech, and swallowing disorders. Initially, a clinical diagnosis of cerebral infarction was made, but later the condition was defined as parenchymal Neuro-Behcet disease and the patient underwent corticosteroid and immunosuppressive treatment.
DISCUSSION
NBD remains a difficult diagnosis to establish as other diseases and conditions may have a similar clinical presentation. The diagnosis is based on the clinical presentation and the typical lesions in brain magnetic resonance imaging (MRI). The development and disappearance of lesions at MRI in relation with disease-specific treatment may correlate with the course of clinical neurologic deficits.
CONCLUSIONS
Differential diagnosis of NBD should be considered in cerebrovascular disease, brain tumors, and demyelinating processes.
Topics: Adult; Behcet Syndrome; Female; Humans; Nervous System Diseases
PubMed: 32898126
DOI: No ID Found -
American Journal of Ophthalmology Aug 2021To determine classification criteria for multifocal choroiditis with panuveitis (MFCPU).
PURPOSE
To determine classification criteria for multifocal choroiditis with panuveitis (MFCPU).
DESIGN
Machine learning of cases with MFCPU and 8 other posterior uveitides.
METHODS
Cases of posterior uveitides were collected in an informatics-designed preliminary database, and a final database was constructed of cases achieving supermajority agreement on diagnosis, using formal consensus techniques. Cases were split into a training set and a validation set. Machine learning using multinomial logistic regression was used on the training set to determine a parsimonious set of criteria that minimized the misclassification rate among the posterior uveitides. The resulting criteria were evaluated on the validation set.
RESULTS
One thousand sixty-eight cases of posterior uveitides, including 138 cases of MFCPU, were evaluated by machine learning. Key criteria for MFCPU included (1) multifocal choroiditis with the predominant lesions size >125 µm in diameter; (2) lesions outside the posterior pole (with or without posterior involvement); and either (3) punched-out atrophic chorioretinal scars or (4) more than minimal mild anterior chamber and/or vitreous inflammation. Overall accuracy for posterior uveitides was 93.9% in the training set and 98.0% (95% confidence interval 94.3, 99.3) in the validation set. The misclassification rates for MFCPU were 15% in the training set and 0% in the validation set.
CONCLUSIONS
The criteria for MFCPU had a reasonably low misclassification rate and seemed to perform sufficiently well for use in clinical and translational research.
Topics: Adult; Anterior Chamber; Female; Humans; Machine Learning; Male; Middle Aged; Multifocal Choroiditis; Visual Acuity
PubMed: 33845016
DOI: 10.1016/j.ajo.2021.03.043 -
Journal Francais D'ophtalmologie May 2023
Topics: Humans; COVID-19 Vaccines; COVID-19; Panuveitis; Visual Acuity; RNA, Messenger
PubMed: 36934019
DOI: 10.1016/j.jfo.2022.10.002 -
Asia-Pacific Journal of Ophthalmology...This review provides a comprehensive description and careful interpretation of various ocular imaging techniques to visualize the different ocular structures in... (Review)
Review
This review provides a comprehensive description and careful interpretation of various ocular imaging techniques to visualize the different ocular structures in posterior and panuveitis. This can help in the diagnosis, follow-up, and monitoring the response to treatment in patients with different posterior and panuveitic entities.
Topics: Eye; Humans; Uveitis, Posterior
PubMed: 33512829
DOI: 10.1097/APO.0000000000000354 -
Arquivos Brasileiros de Oftalmologia 2021We report a case of a young Caucasian female presenting with sudden decrease of vision in the left eye, metamorphopsia, and nasal scotoma. Past medical history revealed...
We report a case of a young Caucasian female presenting with sudden decrease of vision in the left eye, metamorphopsia, and nasal scotoma. Past medical history revealed a diagnosis of myasthenia gravis, which was currently treated with azathioprine, pyridostigmine, and prednisone. Ophthalmological examination showed fundus with clear vitreous and yellow-white lesions that were isolated and perimacular in the right eye, multiple and confluent in the macula, and punctate in periphery in the left eye. Laboratory workup ruled out the presence of infectious and inflammatory diseases. Fundus autofluorescence disclosed hypoautoflurescence with hyperfluorescent margins corresponding to the lesions observed in both eyes and the angiogram revealed hyperfluorescence since early phases without late leakage. Spectral-domain optical coherence tomography showed areas of intermittent retinal pigment epithelium elevations and disruption of the ellipsoid zone. She was diagnosed with punctate inner choroidopathy and then treated with an increased dose of daily prednisone, which resulted in progressive improvement of her visual acuity and anatomical status.
Topics: Female; Fluorescein Angiography; Fundus Oculi; Humans; Retinal Pigment Epithelium; Tomography, Optical Coherence; White Dot Syndromes
PubMed: 33567007
DOI: 10.5935/0004-2749.20210018 -
Retina (Philadelphia, Pa.) Sep 2023To describe a case series of a special subtype of punctate inner choroidopathy with solitary lesions in the macular area and named solitary punctate chorioretinitis. (Observational Study)
Observational Study
PURPOSE
To describe a case series of a special subtype of punctate inner choroidopathy with solitary lesions in the macular area and named solitary punctate chorioretinitis.
METHODS
This retrospective observational study clinically evaluated 12 eyes from 12 patients diagnosed as punctate inner choroidopathy with solitary lesions. Demographic data and multimodal imaging features were analyzed for the included patients.
RESULTS
All the included patients were Chinese and of Han ethnicity. The median age of the included patients was 29.5 years (range: 25-40 years). Most patients (11/12, 91.67%) were myopic, with median refraction errors of -4.4 diopters (D) (range: -8.5 to 0 D). Solitary chorioretinitis lesions were yellow‒white and appeared hyperfluorescent during the entire phase of fundus fluorescein angiography without leakage (9/12, 75%) and hypofluorescent on indocyanine green angiography (11/11, 100%). On spectral domain optical coherence tomography, active inflammatory lesions appeared as isolated, heterogeneous, moderately reflective material at the outer retina (10/12, 83.33%) in the fovea or parafoveal region with disruption of the outer retinal layers. When the inflammatory lesions regressed, the moderately reflective materials in the outer retina were absorbed or regressed with outer retinal tissue loss. Additional sequelae of lesion regression included focal choroidal excavation and intraretinal cystoid space. Secondary choroidal neovascularization was noticed in 2 eyes (2/12, 16.67%).
CONCLUSION
Solitary punctate chorioretinitis is a rare and unique subtype of punctate inner choroidopathy. Solitary punctate chorioretinitis may also be an unrecognized etiology of some forms of focal choroidal excavation and idiopathic choroidal neovascularization.
Topics: Adult; Humans; Chorioretinitis; Choroidal Neovascularization; Fluorescein Angiography; Retina; White Dot Syndromes; East Asian People
PubMed: 37607393
DOI: 10.1097/IAE.0000000000003828 -
American Journal of Ophthalmology Jul 2018To describe issues of concern to children with chronic anterior uveitis; to consider the psychological impact of chronic anterior uveitis on children's lives; and to... (Review)
Review
PURPOSE
To describe issues of concern to children with chronic anterior uveitis; to consider the psychological impact of chronic anterior uveitis on children's lives; and to understand the effect of a child's chronic illness on other family members.
DESIGN
Expert commentary.
METHODS
Author experiences were supplemented by a review of pertinent medical literature and by consideration of content from semi-structured, separate patient and parent interviews.
RESULTS
Vision loss and the fear of blindness are not the only stressors for children with chronic anterior uveitis and their families; of additional concern are the burdens of examinations and treatment regimens, as well as drug toxicities. Children with chronic anterior uveitis experience medical, academic, interpersonal, psychological, and developmental challenges. The impact of disease extends to other members of a patient's family as well; parents experience challenges in similar domains. Problems with adherence to medical regimens are common. Both the disease and its treatment affect quality of life, and can interfere with successful management of disease and transition to autonomy in adulthood, as reported for other chronic conditions. Coping processes vary greatly between different families.
CONCLUSIONS
Eye examinations and the rigors of long-term treatment often influence the psychosocial health of patients and families; physicians who are aware of these issues can help patients and families cope with chronic illness and may improve outcomes. Further psychosocial research to understand the experiences of children dealing with chronic anterior uveitis is warranted; this commentary can serve as a foundation for development of age- and disease-specific research questions.
Topics: Adaptation, Psychological; Adult; Child; Chronic Disease; Female; Humans; Male; Parents; Quality of Life; Stress, Psychological; Uveitis, Anterior
PubMed: 29601821
DOI: 10.1016/j.ajo.2018.03.028 -
Rheumatology International Jan 2023Behçet's Disease (BD) can be correlated with sleep impairment and fatigue, resulting in low quality of life (QoL); however, a comprehensive evaluation of this issue is... (Review)
Review
Behçet's Disease (BD) can be correlated with sleep impairment and fatigue, resulting in low quality of life (QoL); however, a comprehensive evaluation of this issue is still missing. We performed a systematic literature review (SLR) of existing evidence in literature regarding sleep quality in BD. Fifteen papers were included in the SLR. Two domains were mainly considered: global sleep characteristics (i) and the identification of specific sleep disorders (ii) in BD patients. From our analysis, it was found that patients affected by BD scored significantly higher Pittsburgh Sleep Quality Index (PSQI) compared to controls. Four papers out of 15 (27%) studied the relationship between sleep disturbance in BD and disease activity and with regards to disease activity measures, BD-Current Activity Form was adopted in all papers, followed by Behçet's Disease Severity (BDS) score, genital ulcer severity score and oral ulcer severity score. Poor sleep quality showed a positive correlation with active disease in 3 out of 4 studies. Six papers reported significant differences between BD patients with and without sleep disturbances regarding specific disease manifestations. Notably, arthritis and genital ulcers were found to be more severe when the PSQI score increased. Our work demonstrated lower quality of sleep in BD patients when compared to the general population, both as altered sleep parameters and higher incidence of specific sleep disorders. A global clinical patient evaluation should thereby include sleep assessment through the creation and adoption of disease-specific and accessible tests.
Topics: Humans; Behcet Syndrome; Quality of Life; Sleep Quality; Sleep; Sleep Wake Disorders
PubMed: 36194239
DOI: 10.1007/s00296-022-05218-w