-
Disease-a-month : DM Jan 2024Behçet's disease (BD) is a rare, inflammatory vascular disorder with recurrent oral and genital aphthous ulcers, along with ocular and cutaneous manifestations.... (Review)
Review
Behçet's disease (BD) is a rare, inflammatory vascular disorder with recurrent oral and genital aphthous ulcers, along with ocular and cutaneous manifestations. Gastrointestinal (GI) BD may involve any portion of the GI tract. However, it is commonly described in the terminal ileum, followed by the ileocecal region. Diagnosis is challenging given lack of pathognomonic tests; therefore, it is based on clinical criteria. Management of intestinal BD includes different classes of medications including corticosteroids, 5-aminosalicylic acid, immunomodulators, and anti-tumor necrosis factor alpha monoclonal antibody agents. In this review, we aim to focus on intestinal BD and provide details of clinical manifestations, diagnosis and therapeutic options of intestinal BD from gastroenterology viewpoint.
Topics: Humans; Behcet Syndrome; Gastrointestinal Diseases; Antibodies, Monoclonal; Mesalamine
PubMed: 38185603
DOI: 10.1016/j.disamonth.2023.101674 -
Current Opinion in Rheumatology Jan 2024The purpose of this review was to comprehensively summarize recent phenotype research findings in Behçet's syndrome. (Review)
Review
PURPOSE OF REVIEW
The purpose of this review was to comprehensively summarize recent phenotype research findings in Behçet's syndrome.
RECENT FINDINGS
Cluster analysis has recently been employed as a phenotype research tool in Behçet's syndrome. Studies reported different clustering patterns caused by biological variation and some degree of artificial heterogeneity. However, some clusters were more consistent than others: 1) oral ulcers, genital ulcers, and skin lesions 2) oral ulcers, genital ulcers, skin lesions, and arthritis 3) oral ulcers, genital ulcers, skin lesions, and uveitis 4) oral ulcers, genital ulcers, skin lesions, and gastrointestinal involvement. A number of loci suggestive of differential risk for individual disease manifestations were proposed. Peripheral blood gene expression profile and plasma proteome exhibited significant differences in patients with different organ involvements and were able to differentiate between disease phenotypes. However, these observations require further validation and functional studies.
SUMMARY
Clustering patterns in Behçet's syndrome is highly heterogeneous. Artificial heterogeneity might obscure the true biological variation of disease expression. Preliminary genetic, transcriptomic and proteomic data suggest that different pathogenetic mechanisms may operate in different phenotypes of Behçet's syndrome.
Topics: Humans; Behcet Syndrome; Oral Ulcer; Proteomics; Uveitis; Skin Ulcer
PubMed: 37729051
DOI: 10.1097/BOR.0000000000000980 -
Pediatric Rheumatology Online Journal Oct 2023Pediatric uveitis is a severe inflammatory ocular condition that can lead to sight-threatening complications and can negatively impact quality of life. The retinal...
BACKGROUND
Pediatric uveitis is a severe inflammatory ocular condition that can lead to sight-threatening complications and can negatively impact quality of life. The retinal microcirculation is often affected in intermediate uveitis and panuveitis. Here, we examined the extraocular (i.e., systemic) microcirculation in pediatric uveitis cases and healthy controls using nailfold capillaroscopy (NFC).
METHODS
We performed NFC in 119 children with noninfectious uveitis and 25 healthy pediatric controls, and assessed the following parameters: capillary density (number of capillaries/mm), dilated capillaries (apex > 20 µm), avascular area, the presence of microhemorrhages, and capillary morphology. Differences in NFC parameters between cases and controls were calculated using regression analysis after adjusting for age and sex.
RESULTS
The mean (± SD) age of the patient group was 13.7 (± 3) years, with 56% females; 46%, 18%, and 36% of cases presented as anterior uveitis, intermediate uveitis, and panuveitis, respectively, with an overall mean disease duration of 4.7 (± 4.0) years. Compared to the control group, the pediatric uveitis cases had a significantly higher number of dilated capillaries/mm and a higher prevalence of ramified capillaries. Moreover, compared to the control group the intermediate uveitis cases had a significantly higher number of dilated capillaries, whereas the anterior uveitis cases had a lower capillary density and a higher prevalence of ramified capillaries.
CONCLUSIONS
Children with uveitis without systemic disease can present with changes in systemic microcirculation. These changes vary amongst the subtypes of uveitis.
Topics: Female; Humans; Child; Adolescent; Male; Microcirculation; Quality of Life; Nails; Uveitis; Uveitis, Anterior; Uveitis, Intermediate; Panuveitis; Microscopic Angioscopy
PubMed: 37784087
DOI: 10.1186/s12969-023-00896-7 -
Ocular Immunology and Inflammation Dec 2023Non-infectious chronic anterior uveitis (CAU) remains a therapeutic challenge. The purpose of this study was to analyze the effectiveness and safety of weekly dosing of...
PURPOSE
Non-infectious chronic anterior uveitis (CAU) remains a therapeutic challenge. The purpose of this study was to analyze the effectiveness and safety of weekly dosing of adalimumab in children with non-infectious refractory CAU. Methods: Demographic and clinical data of children followed by non-infectious CAU treated with adalimumab were retrospectively reviewed.
RESULTS
Of the 42 children with CAU, 27/42 (64.3%) were treated with adalimumab. Escalation to weekly dosing of adalimumab was necessary for 11/27 children (40.7%). After 3 and 6 months, 7/11 children (63.6%) met the composite endpoint of inflammation control improvement. Children requiring weekly adalimumab had initially more severe uveitis: anterior chamber cells ( = 0.02), aqueous flare ( = 0.02), and presence of macular edema ( = 0.007). No children had serious systemic side effects.
CONCLUSION
Weekly adalimumab in children with refractory CAU appears to be an effective and safe treatment for inflammation control and corticosteroid sparing, and an alternative before biologic switching. Controlled studies are needed.
Topics: Child; Humans; Adalimumab; Retrospective Studies; Arthritis, Juvenile; Treatment Outcome; Uveitis; Uveitis, Anterior; Inflammation
PubMed: 37972236
DOI: 10.1080/09273948.2023.2279682 -
Die Ophthalmologie Jan 2024Acute anterior uveitis (AAU) associated with human leukocyte antigen (HLA) B27 is the most common form of noninfectious intraocular inflammation and is considered to be... (Review)
Review
Acute anterior uveitis (AAU) associated with human leukocyte antigen (HLA) B27 is the most common form of noninfectious intraocular inflammation and is considered to be a separate clinical entity. Young adults between the ages of 20 and 40 years are predominantly affected. The HLA-B27 positive AAU typically presents as a unilateral, fulminant disruption of the blood-aqueous humor barrier, which is accompanied by pronounced cellular infiltration and fibrinous exudation. Other characteristics are reduced intraocular pressure and a high tendency to relapse, which can also involve the partner eye. Patients with HLA-B27 positive AAU share a high risk for other genetically associated diseases, especially spondylarthritis, chronic inflammatory bowel diseases and psoriasis. As up to 40% of those affected have a systemic disease that has not yet been diagnosed, the ophthalmologist is of major importance for early detection.
Topics: Young Adult; Humans; Adult; HLA-B27 Antigen; Uveitis, Anterior; Uveitis; Inflammation; Spondylarthritis; Acute Disease; Chronic Disease
PubMed: 38085287
DOI: 10.1007/s00347-023-01960-z -
Journal of Neuroinflammation May 2024Behcet's disease (BD) is a rare but globally distributed vasculitis that primarily affects populations in the Mediterranean and Asian regions. Behcet's uveitis (BU) is a... (Review)
Review
Behcet's disease (BD) is a rare but globally distributed vasculitis that primarily affects populations in the Mediterranean and Asian regions. Behcet's uveitis (BU) is a common manifestation of BD, occurring in over two-thirds of the patients. BU is characterized by bilateral, chronic, recurrent, non-granulomatous uveitis in association with complications such as retinal ischemia and atrophy, optic atrophy, macular ischemia, macular edema, and further neovascular complications (vitreous hemorrhage, neovascular glaucoma). Although the etiology and pathogenesis of BU remain unclear, numerous studies reveal that genetic factors (such as HLA-B51), dysregulated immune responses of both the innate and adaptive immune systems, infections (such as streptococcus), and environmental factors (such as GDP) are all involved in its development. Innate immunity, including hyperactivity of neutrophils and γδT cells and elevated NK1/NK2 ratios, has been shown to play an essential role in this disease. Adaptive immune system disturbance, including homeostatic perturbations, Th1, Th17 overaction, and Treg cell dysfunction, is thought to be involved in BU pathogenesis. Treatment of BU requires a tailored approach based on the location, severity of inflammation, and systemic manifestations. The therapy aims to achieve rapid inflammation suppression, preservation of vision, and prevention of recurrence. Systemic corticosteroids combined with other immunosuppressive agents have been widely used to treat BU, and beneficial effects are observed in most patients. Recently, biologics have been shown to be effective in treating refractory BU cases. Novel therapeutic targets for treating BU include the LCK gene, Th17/Treg balance, JAK pathway inhibition, and cytokines such as IL-17 and RORγt. This article summarizes the recent studies on BU, especially in terms of pathogenesis, diagnostic criteria and classification, auxiliary examination, and treatment options. A better understanding of the significance of microbiome composition, genetic basis, and persistent immune mechanisms, as well as advancements in identifying new biomarkers and implementing objective quantitative detection of BU, may greatly contribute to improving the adequate management of BU patients.
Topics: Humans; Behcet Syndrome; Uveitis; Animals
PubMed: 38778397
DOI: 10.1186/s12974-024-03123-6 -
Medicina Clinica Nov 2023
Topics: Humans; Listeria monocytogenes; Panuveitis; Food Microbiology; Listeriosis
PubMed: 37666684
DOI: 10.1016/j.medcli.2023.06.039 -
Archivos de La Sociedad Espanola de... Aug 2023The objective of this research is to identify and systematize the medical conditions generated by SARS-CoV-2 on the optic nerve and retina of young, adult, and elderly... (Review)
Review
The objective of this research is to identify and systematize the medical conditions generated by SARS-CoV-2 on the optic nerve and retina of young, adult, and elderly adults who suffered from COVID-19 in the period 2019-2022. A theoretical documentary review (TDR) was conducted within the framework of an investigation to determine the current state of knowledge of the subject under study. The TDR includes the analysis of publications in the scientific databases PubMed/Medline, Ebsco, Scielo and Google. A total of 167 articles were found, of which 56 were studied in depth, and these evidence the impact of COVID-19 infection on the retina and optic nerve of infected patients, both during the acute phase and in subsequent recovery. Among the reported findings, the following stand out: anterior and posterior non-arteritic ischemic optic neuropathy, optic neuritis, central or branch vascular occlusion, paracentral acute medial maculopathy, neuroretinitis, as well as concomitant diagnoses such as possible Vogt-Koyanagi-Harada disease, multiple evanescent white dot syndrome (MEWDS), Purtscher-like retinopathy, among others.
Topics: Adult; Humans; Aged; COVID-19; SARS-CoV-2; Retina; Optic Nerve; Chorioretinitis
PubMed: 37369321
DOI: 10.1016/j.oftale.2023.06.015 -
Canadian Journal of Ophthalmology.... Oct 2023
Topics: Humans; Birdshot Chorioretinopathy; Fluorescein Angiography; Visual Acuity; Chorioretinitis
PubMed: 37187355
DOI: 10.1016/j.jcjo.2023.04.007 -
Journal of Clinical Immunology Mar 2024A20, encoded by TNFAIP3, is a critical negative regulator of immune activation. A20 is a ubiquitin editing enzyme with multiple domains, each of which mediates or... (Review)
Review
A20, encoded by TNFAIP3, is a critical negative regulator of immune activation. A20 is a ubiquitin editing enzyme with multiple domains, each of which mediates or stabilizes a key ubiquitin modification. A20 targets diverse proteins that are involved in pleiotropic immunologic pathways. The complexity of A20-mediated immunomodulation is illustrated by the varied effects of A20 deletion in different cell types and disease models. Clinically, the importance of A20 is highlighted by its extensive associations with human disease. A20 germline variants are associated with a wide range of inflammatory diseases, while somatic mutations promote development of B cell lymphomas. More recently, the discovery of A20 haploinsufficiency (HA20) has provided real world evidence for the role of A20 in immune cell function. Originally described as an autosomal dominant form of Behcet's disease, HA20 is now considered a complex inborn error of immunity with a broad spectrum of immunologic and clinical phenotypes.
Topics: Humans; Behcet Syndrome; Germ-Line Mutation; Haploinsufficiency; Immunomodulation; Ubiquitins; Tumor Necrosis Factor alpha-Induced Protein 3
PubMed: 38451381
DOI: 10.1007/s10875-024-01681-1