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BMC Neurology Apr 2024Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early...
BACKGROUND
Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized.
METHODS
We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series related to neurological manifestations in adult-onset monogenic autoinflammatory diseases. Selection criteria focused on the four most relevant adult-onset autoinflammatory diseases-deficiency of deaminase 2 (DADA2), tumor necrosis factor receptor associated periodic fever syndrome (TRAPS), cryopyrin associated periodic fever syndrome (CAPS), and familial mediterranean fever (FMF). We extracted clinical, laboratory and radiological features to propose the most common neurological phenotypes.
RESULTS
From 276 records, 28 articles were included. The median patient age was 38, with neurological symptoms appearing after a median disease duration of 5 years. Headaches, cranial nerve dysfunction, seizures, and focal neurological deficits were prevalent. Predominant phenotypes included stroke for DADA2 patients, demyelinating lesions and meningitis for FMF, and meningitis for CAPS. TRAPS had insufficient data for adequate phenotype characterization.
CONCLUSION
Neurologists should be proactive in diagnosing monogenic autoinflammatory diseases in young adults showcasing clinical and laboratory indications of inflammation, especially when symptoms align with recurrent or chronic meningitis, small vessel disease strokes, and demyelinating lesions.
Topics: Young Adult; Humans; Adult; Hereditary Autoinflammatory Diseases; Neurologists; Adenosine Deaminase; Intercellular Signaling Peptides and Proteins; Familial Mediterranean Fever; Cryopyrin-Associated Periodic Syndromes; Fever; Phenotype; Meningitis
PubMed: 38632524
DOI: 10.1186/s12883-024-03621-3 -
Reumatologia Clinica Mar 2024Adenosine deaminase (ADA) activity has shown good performance in diagnosing pleural, peritoneal, and meningeal tuberculosis. This meta-analysis aimed to evaluate the... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Adenosine deaminase (ADA) activity has shown good performance in diagnosing pleural, peritoneal, and meningeal tuberculosis. This meta-analysis aimed to evaluate the performance of measuring ADA activity in synovial fluid for the early diagnosis of joint tuberculosis.
METHODS
We searched published information in MEDLINE, Embase, Cochrane Library, Web of Science, and MedRxiv databases, as well as unpublished information in the American College of Rheumatology and European League Against Rheumatism for conference abstracts (2012-2021). We also scanned the reference lists of articles. Two reviewers independently applied the criteria for selection, assessed quality, and extracted data (PROSPERO number CRD42021284472).
RESULTS
Seven independent studies (N=305 subjects) that compared ADA activity in synovial fluid with a composite reference diagnostic method for tuberculosis were included. Overall, the risk of bias was judged low. Studies were classified as high quality (n=3; 148 subjects) and low quality (n=4; 157 subjects). Pooled sensitivity and specificity of ADA activity was 94% (95% confidence interval [CI], 0.89-98; I=23%) and 88% (95% CI, 83-92; I=83%), respectively. The random-effects model for pooled diagnostic Odds ratio was 67.1 (95%CI, 20.3-222.2; I=30%). The receiver operating characteristic curve area was 0.96 (95% CI, 0.92-0.99). Meta-regression did not identify the quality of the study, country of publication, or the type of assay as a source of heterogeneity.
CONCLUSIONS
Measuring ADA activity in synovial fluid demonstrates good performance for the early diagnosis of joint tuberculosis.
Topics: Humans; Adenosine Deaminase; Synovial Fluid; Sensitivity and Specificity; Tuberculosis, Osteoarticular; Arthritis
PubMed: 38494302
DOI: 10.1016/j.reumae.2024.02.002 -
Cellular & Molecular Biology Letters Jan 2024Rheumatoid arthritis (RA) is an autoimmune disease involving T and B lymphocytes. Autoantibodies contribute to joint deterioration and worsening symptoms. Adenosine...
Rheumatoid arthritis (RA) is an autoimmune disease involving T and B lymphocytes. Autoantibodies contribute to joint deterioration and worsening symptoms. Adenosine deaminase (ADA), an enzyme in purine metabolism, influences adenosine levels and joint inflammation. Inhibiting ADA could impact RA progression. Intracellular ATP breakdown generates adenosine, which increases in hypoxic and inflammatory conditions. Lymphocytes with ADA play a role in RA. Inhibiting lymphocytic ADA activity has an immune-regulatory effect. Synovial fluid levels of ADA are closely associated with the disease's systemic activity, making it a useful parameter for evaluating joint inflammation. Flavonoids, such as quercetin (QUE), are natural substances that can inhibit ADA activity. QUE demonstrates immune-regulatory effects and restores T-cell homeostasis, making it a promising candidate for RA therapy. In this review, we will explore the impact of QUE in suppressing ADA and reducing produced the inflammation in RA, including preclinical investigations and clinical trials.
Topics: Humans; Adenosine; Adenosine Deaminase; Arthritis, Rheumatoid; Inflammation; Quercetin; Adenosine Deaminase Inhibitors
PubMed: 38225555
DOI: 10.1186/s11658-024-00531-7 -
Tuberculosis and Respiratory Diseases Jan 2024Tuberculous pleural effusion (TPE) and parapneumonic effusion (PPE) are often difficult to differentiate owing to the overlapping clinical features. Observational...
BACKGROUND
Tuberculous pleural effusion (TPE) and parapneumonic effusion (PPE) are often difficult to differentiate owing to the overlapping clinical features. Observational studies demonstrate that the ratio of lactate dehydrogenase to adenosine deaminase (LDH/ADA) is lower in TPE compared to PPE, but integrated analysis is warranted.
METHODS
We conducted a systematic review to evaluate the diagnostic accuracy of the LDH/ADA ratio in differentiating TPE and PPE. We explored the PubMed and Scopus databases for studies evaluating the LDH/ADA ratio in differentiating TPE and PPE.
RESULTS
From a yield of 110 studies, five were included for systematic review. The cutoff value for the LDH/ADA ratio in TPE ranged from <14.2 to <25. The studies demonstrated high heterogeneity, precluding meta-analysis. Quality Assessment of Diagnostic Accuracy Studies Tool 2 assessment revealed a high risk of bias in terms of patient selection and index test.
CONCLUSION
LDH/ADA ratio is a potentially useful parameter to differentiate between TPE and PPE. Based on the limited data, we recommend an LDH/ADA ratio cutoff value of <15 in differentiating TPE and PPE. However, more rigorous studies are needed to further validate this recommendation.
PubMed: 37726943
DOI: 10.4046/trd.2023.0107