Factors associated with multiple recurrences of nonspecific orbital inflammation aka orbital pseudotumor

Braich, Puneet S.; Kuriakose, Robin K.; Khokhar, Naveen S.; Donaldson, Jared C.; McCulley, Timothy J.

doi:10.1007/s10792-017-0610-7

Cited by 16 publications

(17 citation statements)

References 40 publications

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“…The precise pathophysiological basis of NSOI remains uncertain. Some studies have suggested associations with Streptococcal pharyngitis, viral upper respiratory infection, or other autoimmune conditions such as rheumatologic disease, multifocal fibrosis, and Crohn's disease [ 3 , 4 ]. NSOI manifests a spectrum of clinical presentations, ranging from lacrimal gland inflammation, known as dacryoadenitis, to myositis affecting one or several extraocular muscles, alongside a cadre of other less typical symptoms [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

Glutamine metabolism-related genes and immunotherapy in nonspecific orbital inflammation were validated using bioinformatics and machine learning

Wu,

Li,

Gao

et al. 2024

BMC Genomics

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Background Nonspecific orbital inflammation (NSOI) is an idiopathic, persistent, and proliferative inflammatory condition affecting the orbit, characterized by polymorphous lymphoid infiltration. Its pathogenesis and progression have been linked to imbalances in tumor metabolic pathways, with glutamine (Gln) metabolism emerging as a critical aspect in cancer. Metabolic reprogramming is known to influence clinical outcomes in various malignancies. However, comprehensive research on glutamine metabolism's significance in NSOI is lacking. Methods This study conducted a bioinformatics analysis to identify and validate potential glutamine-related molecules (GlnMgs) associated with NSOI. The discovery of GlnMgs involved the intersection of differential expression analysis with a set of 42 candidate GlnMgs. The biological functions and pathways of the identified GlnMgs were analyzed using GSEA and GSVA. Lasso regression and SVM-RFE methods identified hub genes and assessed the diagnostic efficacy of fourteen GlnMgs in NSOI. The correlation between hub GlnMgs and clinical characteristics was also examined. The expression levels of the fourteen GlnMgs were validated using datasets GSE58331 and GSE105149. Results Fourteen GlnMgs related to NSOI were identified, including FTCD, CPS1, CTPS1, NAGS, DDAH2, PHGDH, GGT1, GCLM, GLUD1, ART4, AADAT, ASNSD1, SLC38A1, and GFPT2. Biological function analysis indicated their involvement in responses to extracellular stimulus, mitochondrial matrix, and lipid transport. The diagnostic performance of these GlnMgs in distinguishing NSOI showed promising results. Conclusions This study successfully identified fourteen GlnMgs associated with NSOI, providing insights into potential novel biomarkers for NSOI and avenues for monitoring disease progression.

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Section: Introductionmentioning

confidence: 99%

Glutamine metabolism-related genes and immunotherapy in nonspecific orbital inflammation were validated using bioinformatics and machine learning

Wu,

Li,

Gao

et al. 2024

BMC Genomics

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“…[1,2] Most of the patients have monophasic disease course, but some of the patients can show recurrence. [16] In a study performed in 153 non-specific orbital inflammation with a single or multiple recurrences showed that younger age, bilateral disease, partial initial steroid response increased risk of recurrence. [16] Additionally, there may be some risk factors precipitating the disease recurrence in the presence of infection [17,18] and autoimmune disease.…”

Section: Discussionmentioning

confidence: 99%

“…[16] In a study performed in 153 non-specific orbital inflammation with a single or multiple recurrences showed that younger age, bilateral disease, partial initial steroid response increased risk of recurrence. [16] Additionally, there may be some risk factors precipitating the disease recurrence in the presence of infection [17,18] and autoimmune disease. [19,20] Also, obesity, pregnancy, and bisphosphonate use may also cause disease recurrence.…”

Section: Discussionmentioning

confidence: 99%

Efficient treatment of resistant orbital pseudotumor with cyber-knife: Case Series and short review of literature

Yaprak¹

2018

South Clin Ist Euras

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Orbital inflammatory syndrome (OIS) or orbital pseudotumor is the most frequent cause of an orbital mass. Most cases are steroid responsive, but treatment of patients with refractory OIS may also include radiotherapy. Presently described are 3 cases of orbital pseudotumor that had a partial steroid response or recurrence and were treated successfully with Cy-berKnife (Accuray Inc., Sunnyvale, CA, USA).

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“…The pathophysiological roots of NSOI remain shrouded in uncertainty. However, recent investigations hint at its potential linkage with a constellation of factors, including Streptococcal pharyngitis, viral upper respiratory infections, and a gamut of autoimmune phenomena such as rheumatologic conditions, multifocal fibrosis, and Crohn’s disease ( 2 , 3 ). Manifestations of NSOI are heterogenous, ranging from lacrimal gland inflammation and extraocular muscle myositis to other less common presentations ( 4 ).…”

Section: Introductionmentioning

confidence: 99%

Bioinformatic validation and machine learning-based exploration of purine metabolism-related gene signatures in the context of immunotherapeutic strategies for nonspecific orbital inflammation

Wu,

Fang,

et al. 2024

Front. Immunol.

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BackgroundNonspecific orbital inflammation (NSOI) represents a perplexing and persistent proliferative inflammatory disorder of idiopathic nature, characterized by a heterogeneous lymphoid infiltration within the orbital region. This condition, marked by the aberrant metabolic activities of its cellular constituents, starkly contrasts with the metabolic equilibrium found in healthy cells. Among the myriad pathways integral to cellular metabolism, purine metabolism emerges as a critical player, providing the building blocks for nucleic acid synthesis, such as DNA and RNA. Despite its significance, the contribution of Purine Metabolism Genes (PMGs) to the pathophysiological landscape of NSOI remains a mystery, highlighting a critical gap in our understanding of the disease’s molecular underpinnings.MethodsTo bridge this knowledge gap, our study embarked on an exploratory journey to identify and validate PMGs implicated in NSOI, employing a comprehensive bioinformatics strategy. By intersecting differential gene expression analyses with a curated list of 92 known PMGs, we aimed to pinpoint those with potential roles in NSOI. Advanced methodologies, including Gene Set Enrichment Analysis (GSEA) and Gene Set Variation Analysis (GSVA), facilitated a deep dive into the biological functions and pathways associated with these PMGs. Further refinement through Lasso regression and Support Vector Machine-Recursive Feature Elimination (SVM-RFE) enabled the identification of key hub genes and the evaluation of their diagnostic prowess for NSOI. Additionally, the relationship between these hub PMGs and relevant clinical parameters was thoroughly investigated. To corroborate our findings, we analyzed expression data from datasets GSE58331 and GSE105149, focusing on the seven PMGs identified as potentially crucial to NSOI pathology.ResultsOur investigation unveiled seven PMGs (ENTPD1, POLR2K, NPR2, PDE6D, PDE6H, PDE4B, and ALLC) as intimately connected to NSOI. Functional analyses shed light on their involvement in processes such as peroxisome targeting sequence binding, seminiferous tubule development, and ciliary transition zone organization. Importantly, the diagnostic capabilities of these PMGs demonstrated promising efficacy in distinguishing NSOI from non-affected states.ConclusionsThrough rigorous bioinformatics analyses, this study unveils seven PMGs as novel biomarker candidates for NSOI, elucidating their potential roles in the disease’s pathogenesis. These discoveries not only enhance our understanding of NSOI at the molecular level but also pave the way for innovative approaches to monitor and study its progression, offering a beacon of hope for individuals afflicted by this enigmatic condition.

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Factors associated with multiple recurrences of nonspecific orbital inflammation aka orbital pseudotumor

Cited by 16 publications

References 40 publications

Glutamine metabolism-related genes and immunotherapy in nonspecific orbital inflammation were validated using bioinformatics and machine learning

Glutamine metabolism-related genes and immunotherapy in nonspecific orbital inflammation were validated using bioinformatics and machine learning

Efficient treatment of resistant orbital pseudotumor with cyber-knife: Case Series and short review of literature

Bioinformatic validation and machine learning-based exploration of purine metabolism-related gene signatures in the context of immunotherapeutic strategies for nonspecific orbital inflammation

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