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Frontiers in Neurology 2023Juvenile myasthenia gravis (JMG) is a rare autoimmune disease that has so far only been described in small cohort studies. We defined the clinical characteristics,...
BACKGROUND
Juvenile myasthenia gravis (JMG) is a rare autoimmune disease that has so far only been described in small cohort studies. We defined the clinical characteristics, management, and outcomes of JMG patients over the past 22 years.
METHODS
A search of PubMed, EMBASE, and web of science (1/2000-2/2022) identified all English language and human studies of JMG. The population was patients diagnosed with JMG. Outcomes included the history of myasthenic crisis, autoimmune comorbidity, mortality, and treatment outcome. Data extraction was performed by independent reviewers. And we performed a pooled reanalysis of all published data in the included studies and compared with other studies of adult cohorts.
RESULTS
We identified 11 articles describing 1,109 patients diagnosed between 2006 and 2021. JMG occurred in 60.4% of female patients. The mean age at presentation was 7.38 years old, and 60.6% of the patients had ocular symptoms as the first clinical manifestation. The most common initial presentation was ptosis, which occurred in 77.7% patients. AchR-Ab positive accounted for 78.7%. 641 patients received thymus examination, found to have thymic hyperplasia in 64.9% and thymoma in 2.2%. Autoimmune comorbidity was found in 13.6% and the most common one is thyroid disease (61.5%). First-line therapy, including pyridostigmine and steroids, was initiated in 97.8 and 68.6%, respectively. Six patients resolved spontaneously without treatment. Thymectomy was performed in 45.6%. 10.6% of patients had a history of myasthenic crisis. Completely stable remission was achieved in 23.7% and mortality was reported in 2 studies, which reported 8 deaths.
CONCLUSION
JMG is a rare disease with a relatively benign course, and differs from adult MG in some clinical features. The treatment regimen guideline for children is still not well-established. There is a need for prospective studies to properly evaluate treatment regimes.
PubMed: 36970540
DOI: 10.3389/fneur.2023.1119294 -
Digestive Diseases and Sciences Jul 2022There is conflicting evidence regarding autoimmune pancreatitis (AIP) association with pancreatic and non-pancreatic cancers. Literature lacks data on overall prevalence... (Meta-Analysis)
Meta-Analysis
BACKGROUND
There is conflicting evidence regarding autoimmune pancreatitis (AIP) association with pancreatic and non-pancreatic cancers. Literature lacks data on overall prevalence of malignancies in autoimmune pancreatitis.
AIM
Given the lack of definite evidence, we aimed to pool and summarize data from available literature regarding prevalence of different malignancies in AIP.
METHODS
We conducted a systematic search of MEDLINE, EMBASE, Cochrane Register of Controlled Trials, and Web of Science through February 16, 2021, to include observational studies assessing the incidence of cancer in AIP. We used the DerSimonian-Laird method with random effects for meta-analysis. Pooled prevalence, 95% confidence interval (CI), and I statistic are reported.
RESULTS
A total of 17 studies with 2746 patients were included assessing the prevalence of cancer in AIP. The overall prevalence of cancer in AIP was 9.6% [95% confidence interval (CI), 5.7-13.5%]. The cancers with the highest prevalence in AIP population were gastric and colorectal cancer, with prevalence of 1.3% (95% CI, 0.5-2.1%) and 1.2% (95% CI, 0.6-1.8%), respectively.
CONCLUSION
We demonstrate the prevalence of different cancers in AIP. Inflammatory surge in AIP and subsequent carcinogenesis is one explanation for this association. Moreover, AIP can be a paraneoplastic syndrome manifestation of malignancies.
Topics: Autoimmune Diseases; Autoimmune Pancreatitis; Diagnosis, Differential; Humans; Immunoglobulin G; Neoplasms; Pancreatitis
PubMed: 34297267
DOI: 10.1007/s10620-021-07179-9 -
Metabolites Sep 2023Autoimmune diseases, characterized by the immune system's loss of self-tolerance, lack definitive diagnostic tests, necessitating the search for reliable biomarkers.... (Review)
Review
Autoimmune diseases, characterized by the immune system's loss of self-tolerance, lack definitive diagnostic tests, necessitating the search for reliable biomarkers. This systematic review aims to identify common metabolite changes across multiple autoimmune diseases. Following PRISMA guidelines, we conducted a systematic literature review by searching MEDLINE, ScienceDirect, Google Scholar, PubMed, and Scopus (Elsevier) using keywords "Metabolomics", "Autoimmune diseases", and "Metabolic changes". Articles published in English up to March 2023 were included without a specific start date filter. Among 257 studies searched, 88 full-text articles met the inclusion criteria. The included articles were categorized based on analyzed biological fluids: 33 on serum, 21 on plasma, 15 on feces, 7 on urine, and 12 on other biological fluids. Each study presented different metabolites with indications of up-regulation or down-regulation when available. The current study's findings suggest that amino acid metabolism may serve as a diagnostic biomarker for autoimmune diseases, particularly in systemic lupus erythematosus (SLE), multiple sclerosis (MS), and Crohn's disease (CD). While other metabolic alterations were reported, it implies that autoimmune disorders trigger multi-metabolite changes rather than singular alterations. These shifts could be consequential outcomes of autoimmune disorders, representing a more complex interplay. Further studies are needed to validate the metabolomics findings associated with autoimmune diseases.
PubMed: 37755267
DOI: 10.3390/metabo13090987 -
Antibiotic-induced gut dysbiosis and autoimmune disease: A systematic review of preclinical studies.Autoimmunity Reviews Sep 2022Antibiotic-induced gut dysbiosis is believed to be associated with the onset and development of autoimmune diseases. To evaluate microbiota's variations triggered by... (Review)
Review
Antibiotic-induced gut dysbiosis is believed to be associated with the onset and development of autoimmune diseases. To evaluate microbiota's variations triggered by antibiotic therapy and its outcomes on autoimmune diseases, preclinical studies regarding these subjects were included in this review. The studies were selected on PubMed, Scopus and Web of Science from 2011 to 2021 by three researchers that extracted study data and risk of bias, which were verified by a further 3 independent researchers. The team assessed the strength of evidence across studies. Of the eligible studies, 17 showed an improvement of the studied disease after antibiotic therapy and 10 had a negative effect on the course of the condition. The ameliorating factors of the studied diseases were mostly seen when using an antibiotic cocktail. Male animals had a good outcome after therapy and, for all genders, the increase in IL-10 and Treg cells was often shown to ameliorate disease after the antibiotic intervention. Firmicutes, Proteobacteria and Bacteroidetes appeared altered after the antibiotic intervention, leading to amelioration or worsening of the condition depending on the autoimmune disease. We identified that the number of autoimmune conditions approached leads to specific conclusions regarding the interventions, making it difficult to achieve an overall conclusion. Overall, even though pre-clinical studies must be translated to the human model, the studied aspects of gender, age, lineage and disease model substantially impact the outcomes that make for many intricacies that were not-established in the study of antibiotic-induced gut dysbiosis and autoimmunity.
Topics: Animals; Anti-Bacterial Agents; Autoimmune Diseases; Bacteroidetes; Dysbiosis; Female; Gastrointestinal Microbiome; Humans; Male
PubMed: 35830954
DOI: 10.1016/j.autrev.2022.103140 -
Journal of Clinical Medicine Oct 2021Several studies have linked apical periodontitis and systemic diseases. The aim of this study is to present a systematic review of the available literature investigating... (Review)
Review
Several studies have linked apical periodontitis and systemic diseases. The aim of this study is to present a systematic review of the available literature investigating whether there is an association between pulpal-periapical pathology and autoimmune disease. The review was conducted following the PRISMA statement. A literature search was performed in five databases. Studies involving patients with pulpal-periapical pathology and autoimmune diseases were included in the review. Based on the PICO model, the research question aimed to assess whether there is an increased risk of developing pulpal-periapical pathology in patients with autoimmune disease. Article selection, data extraction, and quality assessment were performed using an adapted version of the STROBE guidelines. A total of seven studies were included in our review. The types of articles were five case-control and two cross-sectional studies. Periapical pathologies were associated to three autoimmune diseases (diabetes mellitus I, rheumatoid arthritis, and inflammatory bowel disease). Among the included studies, four show a low risk of bias, while three present a moderate risk. There could be an association between apical periodontitis and autoimmune diseases, although most studies report statistically non-significant associations.
PubMed: 34768405
DOI: 10.3390/jcm10214886 -
Epilepsia Feb 2021This study aimed to evaluate the proportion of patients with seizures and electroencephalography (EEG) abnormalities in autoimmune encephalitis (AE) and its most common...
OBJECTIVE
This study aimed to evaluate the proportion of patients with seizures and electroencephalography (EEG) abnormalities in autoimmune encephalitis (AE) and its most common subtypes.
METHODS
This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) standards and was registered with the International Prospective Register of Systematic Reviews (PROSPERO). We searched Medline All, Embase, and PsychINFO in Ovid from inception to June 2019 for articles pertaining to AE and seizure. Included studies reported seizure and/or EEG data in cohorts of ≥10 AE patients. Patient demographics, antibody type, seizure incidence, and EEG findings were extracted. Review of studies and data extraction were performed in duplicate. In addition to descriptive analysis, quantitative synthesis stratified by autoantibody subtype was performed with logistic regression and chi-square analyses.
RESULTS
Our search yielded 3856 abstracts: 1616 were selected for full-text review and 118 studies met eligibility criteria. Of 3722 antibody-positive AE patients, 2601 (69.9%) had clinical seizures during the course of their illness. Of the 2025 patients with antibody-positive AE and available EEG data, 1718 (84.8%) had some EEG abnormality (eg, epileptiform discharges, slowing, and so on). Anti- N-methyl-d-aspartate (NMDA) receptor encephalitis (anti-NMDARE) was the most commonly reported type of AE (1985/3722, 53.3%). Of the anti-NMDARE patients with available seizure or EEG data, 71.8% (n = 1425/1985) had clinical seizures during their illness, and 89.7% (n = 1172/1306) had EEG abnormalities. For all AE patients and in the anti-NMDARE subpopulation, seizures were more common in younger patients (p < .05).
SIGNIFICANCE
This systematic review provides an estimate of the proportion of AE patients with seizures, confirming the magnitude of seizure burden in this population. Prospective studies are needed to understand population-based prevalence of seizures, identify factors associated with seizures, and evaluate particular EEG findings as biomarkers of seizures and outcomes in AE.
Topics: Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Autoantibodies; Autoimmune Diseases of the Nervous System; Electroencephalography; Encephalitis; Glutamate Decarboxylase; Hashimoto Disease; Humans; Receptors, GABA-B; Seizures
PubMed: 33475161
DOI: 10.1111/epi.16807 -
Otolaryngology--head and Neck Surgery :... Nov 2023To analyze evidence supporting an association between immune-related diseases and Ménière's disease (MD) since it has long been thought to be related to autoimmune... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To analyze evidence supporting an association between immune-related diseases and Ménière's disease (MD) since it has long been thought to be related to autoimmune disorders and allergies.
DATA SOURCES
We retrieved records from Pubmed, Web of Science, Scopus, and Cochrane Library to identify studies published between January 2002 and October 2022.
REVIEW METHODS
Articles were independently assessed by 2 reviewers and verified by a third reviewer. Published cross-sectional studies, cohort/longitudinal studies, case series, and noncomparative cohort studies were considered eligible for inclusion. We conducted a systematic review and meta-analysis according to a registered protocol on the International Prospective Register of Systematic Reviews and Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Selected studies were classified into 2 groups: epidemiological and genetic association studies. Relative frequencies and odds ratios (ORs) for each autoinflammatory/autoimmune disease or genetic marker reported to be associated with MD.
RESULTS
Fifteen studies from 6 countries met our inclusion criteria. Nine are epidemiological studies and 6 are genetic association studies. The epidemiological studies were used to perform 3 different meta-analyses. Airway allergic disease and autoimmune thyroid disease showed a significant association with MD (OR = 2.27 [2.08-2.48] and OR = 1.35 [1.25-1.46]); while rheumatoid arthritis did not (OR = 0.63 [0.28-1.41]). Other comorbidities also showed a significant association with MD like chronic obstructive pulmonary disease, vitiligo, fibromyalgia, arthritis, and psoriasis.
CONCLUSION
Epidemiological evidence supports an association between MD and immune-related disorders in European and Asian populations, with population-specific effects. The evaluation of thyroid diseases, airway allergic diseases, and other inflammatory diseases should be implemented in the clinical management of MD patients.
Topics: Humans; Meniere Disease; Cross-Sectional Studies; Autoimmune Diseases; Cohort Studies; Comorbidity; Hypersensitivity
PubMed: 37272729
DOI: 10.1002/ohn.386 -
Journal of Voice : Official Journal of... Dec 2022While Autoimmune Associated Vocal Fold Lesions (AaVFLs) have been described in many reports, there is no consensus on best practices in management. The purpose of this... (Review)
Review
OBJECTIVE
While Autoimmune Associated Vocal Fold Lesions (AaVFLs) have been described in many reports, there is no consensus on best practices in management. The purpose of this systematic review is to clarify the characteristics and treatment of dysphonia in the setting of AaVFLs.
STUDY DESIGN
Systematic review METHODS: Pubmed and OVIDMedline and Google Scholar were searched, including terms related to (1) Vocal fold/cord, rheumatoid node/nodule, bamboo nodes/nodules, laryngeal deposits/nodes/nodules and (2) Autoimmune diseases/syndromes, connective tissue disease.
RESULTS
Twenty-one studies with 83 patients diagnosed with AaVFLs were included. AaVFLs occurred predominantly in females in the 4th or 5th decade of life, with an overall mean age of 39.8 (SD = 12.8). Autoimmune or connective tissue disease was established prior to presentation to an otolaryngologist in 75.9% (44/58) of patients. Bilateral lesions were present in 83.8% (57/68) of patients. Treatment modalities included medical therapy alone (28.1%), voice therapy alone (17.5%), surgical treatment alone (7.0%), combination of medical and voice therapy (33.3%), and combination of surgical, medical and voice therapy (7.0%). All patients treated with voice therapy had voice improvement; lower rates were seen with solo medical (4/14 improved, 28.6%) or surgical therapy (3/6 improved, 50%).
CONCLUSION
AaVFLs occur predominantly in women in their 30's to 50's and are associated with a variety of autoimmune conditions. A significant number of patients (25%) present to the Otolaryngologist without an established autoimmune diagnosis. While treatment outcomes are not robustly reported, a significant number of patients with AAVFLs treated with voice therapy alone or voice therapy in combination with other treatment modalities (medical or surgical) experience subjective improvement in voice quality and function.
PubMed: 36543608
DOI: 10.1016/j.jvoice.2022.12.002 -
Cureus Jun 2022Despite recent evidence that low serum 25-hydroxyvitamin D (25(OH)D) levels and deflects may influence the emergence of autoimmune thyroid disorders (AITD), the... (Review)
Review
Despite recent evidence that low serum 25-hydroxyvitamin D (25(OH)D) levels and deflects may influence the emergence of autoimmune thyroid disorders (AITD), the relationship between vitamin D deficiency and Graves' disease (GD) and Hashimoto's thyroiditis (HT), which comprise AITD, remains unclear. We retrieved studies that described vitamin D association with HT and GD from PubMed/Medline, Google Scholar, and the Cochrane Library. We included research studies that compared vitamin D levels and deficiency or sufficiency between AITD cases such as HT and GD cases and control subjects. The final assessment comprised 11 studies that recruited 1952 AITD cases (HT and GD) that were published between 2011 and 2021; these were included in the final review. All the included studies were observational, and more precisely, case-control studies that recruited healthy subjects as well as controls. The majority of the studies reviewed indicated that HT and GD patients have a greater prevalence of vitamin D deficiency or low serum 25 (OH)-D levels. Two studies failed to establish an association between vitamin D deficiency and HT and GD disease. In conclusion, vitamin D deficiency or insufficiency can increase the rate of autoimmune diseases such as HT and GD. Randomized controlled trials with a longer follow-up period are needed to confirm the causal relationship between autoimmune thyroid disorder and vitamin D and to provide more reliable insights into the relevance of treatment effects of vitamin D therapy or supplementation.
PubMed: 35836431
DOI: 10.7759/cureus.25869 -
Journal of Oral Pathology & Medicine :... May 2023Personal history of autoimmune rheumatic diseases has been implicated in the development of malignant neoplasms. Our aim was to assess the risk of head and neck (H&N)... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Personal history of autoimmune rheumatic diseases has been implicated in the development of malignant neoplasms. Our aim was to assess the risk of head and neck (H&N) cancers in patients with autoimmune rheumatic diseases.
METHODS
The articles search included PubMed, EMBASE, LILACS, The Cochrane Library, CINAHL, Scopus, Web of Science, and Google Scholar with no language restrictions for studies published from inception of the databases to August 20, 2022, assessing the risk of H&N cancer in patients with autoimmune rheumatic diseases. Studies were included if they reported the standardized incidence ratio (SIR) with corresponding 95% confidence intervals (CIs). The primary outcome was risk of H&N cancers in patients with autoimmune rheumatic diseases compared with the general population. Pooled summary estimates were calculated using a random-effects model, and subgroup analyses were done to establish whether risk of H&N cancers varied according to study site.
RESULTS
Our search identified 5378 records, of which 32 cohort studies were eligible for systematic review and 24 for meta-analysis (including 273 613 patients). A significant association was found between H&N cancer and autoimmune rheumatic diseases (SIR = 2.35; 95% CI: 1.57-3.50; p < 0.01, I = 94%).
CONCLUSION
Our study suggests that patients with autoimmune rheumatic diseases had a significantly increased risk of H&N cancer compared with the general population, including thyroid, oral, and nasopharyngeal cancers. These findings have implications for the individualized screening of these patients and the planning of oncology units. The protocol is registered with PROSPERO, number CRD42020197827.
Topics: Humans; Head and Neck Neoplasms; Autoimmune Diseases; Cohort Studies; Nasopharyngeal Neoplasms; Rheumatic Diseases
PubMed: 36504468
DOI: 10.1111/jop.13396