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Frontiers in Immunology 2023FLAIR-hyperintense lesions in anti-MOG-associated encephalitis with seizures (FLAMES) has been identified increasingly frequently in recent years. However, this rare MOG...
FLAIR-hyperintense lesions in anti-MOG-associated encephalitis with seizures overlaying anti-N-methyl-D-aspartate receptor encephalitis: a case report and literature review.
BACKGROUND
FLAIR-hyperintense lesions in anti-MOG-associated encephalitis with seizures (FLAMES) has been identified increasingly frequently in recent years. However, this rare MOG antibody disease may coexist with anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe), in an overlap syndrome with unknown clinical features and prognosis.
METHODS
We report a new case of this overlap syndrome and present a systematic review of similar cases in the literature to provide information on the clinical presentation, MRI features, EGG abnormalities, treatment, and prognosis of patients with this rare syndrome.
RESULTS
A total of 12 patients were analyzed in the study. The most common clinical manifestations of FLAMES overlaid with anti-NMDARe were epilepsy (12/12), headache (11/12), and fever (10/12). Increases in intracranial pressure (median: 262.5 mmHO, range: 150-380 mmHO), cerebrospinal fluid (CSF) leukocyte count (median: 128×10/L, range: 1-610×10/L), and protein level (median: 0.48 g/L) were also observed. The median CSF anti-NMDAR antibody titer was 1:10 (1:1-1:32), while the median serum MOG antibody titer was 1:32 (1:10-1:1024). Seven cases exhibited unilateral cortical FLAIR hyperintensity, and five cases (42%) had bilateral cortical FLAIR hyperintensity, including four cases involving the bilateral medial frontal lobes. Of the 12 patients, five showed lesions at other sites (e.g., the brainstem, corpus callosum, or frontal orbital gyrus) before or after the development of cortical encephalitis. EEG showed slow waves in four cases, spike-slow waves in two cases, an epileptiform pattern in one case, and normal waves in two cases. The median number of relapses was two. Over a mean follow-up period of 18.5 months, only one patient experienced residual visual impairment, while the remaining 11 patients had good prognoses.
CONCLUSION
FLAMES alone is difficult to distinguish from overlap syndrome based on clinical features. However, FLAMES with bilateral medial frontal lobe involvement suggests the presence of the overlap syndrome.
Topics: Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Neoplasm Recurrence, Local; Seizures; Autoantibodies; Magnetic Resonance Imaging
PubMed: 37138864
DOI: 10.3389/fimmu.2023.1149987 -
Journal of Clinical Neuroscience :... Jun 2023Myasthenia gravis (MG) can have a variety of respiratory presentations, ranging from mild symptoms through to respiratory failure. The evaluation of respiratory function... (Review)
Review
BACKGROUND
Myasthenia gravis (MG) can have a variety of respiratory presentations, ranging from mild symptoms through to respiratory failure. The evaluation of respiratory function in MG can be limited by accessibility to testing facilities, availability of medical equipment, and facial weakness. The single count breath test (SCBT) may be a useful adjunct in the evaluation of respiratory function in MG.
METHOD
A systematic review of the databases PubMed, EMBASE, and the Cochrane Library was conducted from inception to October 2022 in accordance with PRISMA guidelines and was registered on PROSPERO.
RESULTS
There were 6 studies that fulfilled the inclusion criteria. The described method of evaluating SCBT involves inhaling deeply, then counting at two counts per second, in English or Spanish, sitting upright, with normal vocal register, until another breath needs to be taken. The identified studies support that the SCBT has a moderate correlation with forced vital capacity. These results also support that SCBT can assist the identification of MG exacerbation, including via assessment over the telephone. The included studies support a threshold count of ≥ 25 as consistent with normal respiratory muscle function. Although further analysis is needed, the included studies describe the SCBT as a quick bedside tool that is inexpensive and well tolerated.
CONCLUSIONS
The results of this review support the clinical utility of the SCBT in assessing respiratory function in MG and describe the most current and effective methods of administration.
Topics: Humans; Myasthenia Gravis; Breath Tests
PubMed: 37094510
DOI: 10.1016/j.jocn.2023.04.011 -
Seminars in Ophthalmology Oct 2023The diagnosis of myasthenia gravis (MG) may be challenging and require multiple specialised testing modalities. Accessing these investigations can involve significant...
BACKGROUND
The diagnosis of myasthenia gravis (MG) may be challenging and require multiple specialised testing modalities. Accessing these investigations can involve significant waiting time and costs. The bedside icepack test (IPT) has been proposed to assist with the diagnosis of MG with ocular features, and may prove an economically viable; however, there have been there is heterogeneity in the literature evaluating the IPT.
OBJECTIVES
A systematic review was performed examining the accuracy, described techniques, and economic implications of the IPT for the diagnosis of MG with ocular features.
METHOD
The databases EMBASE, PubMed, and the Cochrane Library were searched from inception to July 2022. The systematic review adhered to PRISMA guidelines. Eligibility determination was undertaken with a standardised form using appropriate inclusion criteria. The Cochrane risk of bias assessment tool for diagnostic test accuracy was employed to evaluate studies that presented the diagnostic performance of the IPT. The Johanna Briggs Institute Critical Appraisal Checklist for Economic Evaluations was used for the assessment of studies presenting economic evaluations of the IPT.
RESULTS
20 articles met the specified criteria and included a total of 1264 participants. The IPT had a sensitivity ranging from 38.5% to 100%. Specificity was found to be > 95% in six studies. Excluding two outlier results of 25% and 31.3%, the lowest specificity recorded was 62.5%. The most commonly described method of evaluating the IPT involved applying ice to both eyelids and using a >2 mm change as a threshold for a positive test (evaluated with a ruler). There were no adverse effects described with the IPT. There were no studies that formally examined the economic implications of the IPT.
CONCLUSIONS
The IPT is a well-tolerated and readily available diagnostic tool that has an important role in the evaluation of possible MG with ocular features in specific contexts. Despite limited economic evaluation of this test, it is likely the use of the IPT may result in significant financial and time savings.
Topics: Humans; Sensitivity and Specificity; Myasthenia Gravis; Cost-Benefit Analysis
PubMed: 36967601
DOI: 10.1080/08820538.2023.2194984 -
Acta Neurologica Belgica Oct 2023Current myasthenia gravis guidelines recommend the use of azathioprine as first-line steroid sparing agent. However, due to its high cost, compliance to azathioprine is... (Review)
Review
Current myasthenia gravis guidelines recommend the use of azathioprine as first-line steroid sparing agent. However, due to its high cost, compliance to azathioprine is low in developing countries. To determine the efficacy and safety of the cheaper methotrexate as an alternative immunosuppressant, Medline/Pubmed, Embase and Cochrane databases and references were searched for clinical trials and observational studies using the search terms: "Myasthenia OR Myasthenia Gravis OR anti AchR antibody positive Myasthenia Gravis OR anti-MuSK antibody Myasthenia Gravis OR MG" AND "Methotrexate". Of 78 possible articles, only 4 were selected using the following eligibility criteria: population: generalized MG patients; intervention: methotrexate; and outcome: effectiveness, steroid sparing efficacy and adverse effects. Two clinical trials and one observational study noted improvement in different MG outcomes in patients given methotrexate. While one randomized controlled clinical trial concluded that methotrexate has no steroid sparing benefit, a single blinded clinical trial established that methotrexate was a better steroid sparing agent than azathioprine starting at 10th month of use. Adverse effects were rare with non-specific pain and elevated transaminases as the most common complaints. Based on available evidence, MTX may be a safe and effective alternative to AZA as steroid sparing agent in developing countries.
Topics: Humans; Methotrexate; Azathioprine; Immunosuppressive Agents; Myasthenia Gravis; Prednisone; Drug-Related Side Effects and Adverse Reactions; Randomized Controlled Trials as Topic; Observational Studies as Topic
PubMed: 36967437
DOI: 10.1007/s13760-023-02242-w -
Frontiers in Immunology 2022To summarize the cytokine/chemokine levels of anti-N-methyl-Daspartate receptor encephalitis (NMDAR-E) and explore the potential role of these molecules and immune cells... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To summarize the cytokine/chemokine levels of anti-N-methyl-Daspartate receptor encephalitis (NMDAR-E) and explore the potential role of these molecules and immune cells in the pathogenic mechanism.
METHODS
The PubMed, Cochrane Library, Embase, and Web of Science databases were searched for various articles that assessed the concentrations of cytokines/chemokines in the unstimulated cerebrospinal fluid (CSF) or serum of patients with NMDAR-E in this systematic review and meta-analysis. The standardized mean difference (SMD) and 95% confidence interval (CI) were calculated by Stata17.0.
RESULTS
A total of 19 articles were included in the systematic review from 260 candidate papers, and cytokine/chemokine levels reported in the CSF/serum were examined in each article. This meta-analysis included 17 eligible studies comprising 579 patients with NMDAR-E, 367 patients with noninflammatory neurological disorders, and 42 healthy controls from China, Spain, South Korea, Australia, Czechia, and Sweden. The results indicated that the levels of different cytokines interleukin (IL)-6, tumor necrosis factor (TNF)-α, IL-10, IL-13, IL-1β, IL-12, and IL-17 and chemokine C-X-C motif ligand (CXCL)10 in the CSF were significantly higher in NMDAR-E patients with a large effect size. In addition, B cell activating factor (BAFF), CXCL13, and interferon (IFN)-γ levels in the CSF were higher in NMDAR-E patients with a middle effect size. In contrast, levels of IL-2 and IL-4 in the CSF and CXCL13 and BAFF in the serum did not show a significant difference between cases and controls.
CONCLUSIONS
These analyses showed that the central immune response in NMDAR-E is a process that involves multiple immune cell interactions mediated by cytokines/chemokines, and T cells play an important role in the pathogenesis of immunity.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/, identifier (CRD42022342485).
Topics: Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Chemokines; Cytokines; Interleukin-12; Interleukin-6; Tumor Necrosis Factor-alpha
PubMed: 36761173
DOI: 10.3389/fimmu.2022.1064007 -
Rheumatology (Oxford, England) Jul 2023Satoyoshi syndrome is a rare multisystem disease of presumed autoimmune aetiology. We carried out a systematic review to evaluate the available evidence to support that...
OBJECTIVES
Satoyoshi syndrome is a rare multisystem disease of presumed autoimmune aetiology. We carried out a systematic review to evaluate the available evidence to support that autoimmune hypothesis.
METHODS
We searched for Satoyoshi syndrome cases in PubMed, the Web of Science and Scopus up to January 2022, using keywords 'Satoyoshi syndrome' or 'Komuragaeri disease'. Data on symptoms, associated autoimmune diseases, presence of autoantibodies and response to treatment were collected.
RESULTS
A total of 77 patients from 57 articles published between 1967 and 2021 were included; 59 patients were women. The mean age at diagnosis was 21.2 years. All cases had painful muscular spasms and alopecia. Frequent manifestations included: diarrhoea, malabsorption, growth retardation, amenorrhoea and bone deformity. Satoyoshi syndrome was associated with other autoimmune diseases: myasthenia gravis, autoimmune thyroiditis, idiopathic thrombocytopenic purpura, atopic dermatitis, bronchial and lupus erythematosus. Autoantibody determinations were performed in 39 patients, of which 27 had positive results. The most frequently detected autoantibodies were ANAs. Other less frequently found autoantibodies were: anti-acetylcholine receptor antibodies, anti-DNA antibodies, antithyroid antibodies, anti-glutamic acid decarboxylase (anti-GAD) and anti-gliadin antibodies. Pharmacological treatment was reported in 50 patients. Most of them improved with CS, immunosuppressants and immunoglobulins, or a combination of these medications.
CONCLUSION
Satoyoshi syndrome is associated with other autoimmune diseases and a variety of autoantibodies. Improvement after CS or other immunosuppressant treatment was observed in 90% of cases. These data support an autoimmune aetiology for Satoyoshi syndrome. More studies including systematic determination of autoantibodies in all patients with Satoyoshi syndrome will help us advance in our understanding of this disease.
Topics: Humans; Female; Young Adult; Adult; Male; Spasm; Alopecia; Autoimmune Diseases; Myasthenia Gravis; Autoantibodies; Immunosuppressive Agents; Diarrhea
PubMed: 36749015
DOI: 10.1093/rheumatology/kead067 -
European Journal of Neurology Apr 2023
Reply to the Letter to the Editor in response to "Role of autoantibody levels as biomarkers in the management of patients with myasthenia gravis: A systematic review and expert appraisal".
Topics: Humans; Myasthenia Gravis; Receptors, Cholinergic; Biomarkers; Autoantibodies
PubMed: 36692238
DOI: 10.1111/ene.15690 -
Ectopic Olfactory Neuroblastoma: Systematic Review of a Rare Clinical Entity among Sinonasal Tumors.Journal of Neurological Surgery. Part... Apr 2024Ectopic olfactory neuroblastoma is an uncommon manifestation of an already rare neoplasm. We aimed to systematically review the literature for cases of ectopic...
Ectopic olfactory neuroblastoma is an uncommon manifestation of an already rare neoplasm. We aimed to systematically review the literature for cases of ectopic olfactory neuroblastoma to better characterize this rare disease entity and to present two new case reports. A search of the PubMed and Embase databases was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to identify English-language articles reporting cases of ectopic olfactory neuroblastoma, published from 1955 through November 2021. Sixty-six cases of ectopic olfactory neuroblastoma were identified in 62 articles including the current review. Ectopic olfactory neuroblastoma arose in a wide age range (2-89 years) without significant sex predilection. It occurred most commonly in the ethmoid (25%), maxillary (25%), and sphenoid (16%) sinuses. Seventy-three percent of cases presented with low Hyams grade (I and II). The most common symptoms were nasal obstruction (32%) and epistaxis (32%). Paraneoplastic syndromes were observed in 27% of patients. The most common treatment was surgical resection followed by adjuvant radiotherapy. Overall, 76% of all patients were disease-free at the time of last follow-up. Locoregional recurrences and distant metastases were found in 19 and 5% of cases, respectively. This systematic review describes previously reported cases of ectopic olfactory neuroblastoma, a disease entity with poorly understood characteristics. Physicians should consider olfactory neuroblastoma in the differential diagnosis for sinonasal masses, as their ectopic presentation may present considerable diagnostic and therapeutic difficulties. Patients with olfactory neuroblastoma may benefit from long-term follow-up and routine endoscopic examinations for surveillance of ectopic recurrences.
PubMed: 38463937
DOI: 10.1055/a-1993-7790 -
Surgical Endoscopy May 2023Thymectomy has been utilized as a treatment for Myasthenia Gravis (MG) for many decades, with both open and minimally invasive surgical (MIS) techniques currently used.... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Thymectomy has been utilized as a treatment for Myasthenia Gravis (MG) for many decades, with both open and minimally invasive surgical (MIS) techniques currently used. Although MIS has shown improved short-term results, long-term effects remain uncertain. This systematic review and meta-analysis aim to compare the post-operative and long-term outcomes of MIS versus open thymectomy in MG patients.
METHODS
MEDLINE, EMBASE and CENTRAL databases were searched from inception till January 2022 for keywords related to MG and open or MIS thymectomy. Primary outcome was complete stable remission (CSR), and secondary outcomes were clinical improvement, complications, length of stay, operation time, and blood loss. Grading of recommendations, assessment, development, and evaluation was used to assess the certainty of evidence.
RESULTS
26 studies with 3588 patients were included in the analysis. At 1, 3 and 5 years, there was no statistical difference noted in CSR between open versus MIS thymectomy. However, CSR was improved at 1 year for MIS thymectomy in non-thymomatous MG (P = 0.03). There was no significant difference in rates of partial clinical improvement between techniques at 1-year. Although analyses on length of hospital stay and blood loss showed improvement following MIS thymectomy, operative time was shorter for open thymectomy.
CONCLUSION
This is the first systematic review and meta-analysis assessing long-term effects of MIS versus open thymectomy in MG patients. Given the lack of significant differences noted, either MIS or open thymectomy can be performed, based on surgeon preference. Further high-level, long-term research should be conducted to determine the benefit of each technique.
Topics: Humans; Thymectomy; Myasthenia Gravis; Remission Induction; Length of Stay; Minimally Invasive Surgical Procedures; Treatment Outcome; Retrospective Studies
PubMed: 36539629
DOI: 10.1007/s00464-022-09757-y -
Medicina Clinica Mar 2023Stauffer syndrome is a paraneoplastic syndrome (PS) that involves liver disorders; it has been often related to renal tumors, but also to others such as adenocarcinoma... (Review)
Review
Stauffer syndrome is a paraneoplastic syndrome (PS) that involves liver disorders; it has been often related to renal tumors, but also to others such as adenocarcinoma of the prostate (ACP). Our objective was to carry out a systematic review of published cases associated with ACP. A total of 357 articles were accessed, 25 of which met the study's inclusion criteria. All published cases of Stauffer syndrome in patients diagnoses with ACP were in the metastatic stage. The PS resolved in 3 out of 4 patients when ACP-targeted therapy was implemented. The following were identified as poor prognosis factors: the diagnosis of ACP prior to that of SP, non-elevated levels of total bilirubin, and the non-resolution of SP at the start of treatment.
Topics: Male; Humans; Prostate; Jaundice; Kidney Neoplasms; Prostatic Neoplasms; Paraneoplastic Syndromes; Carcinoma
PubMed: 36526448
DOI: 10.1016/j.medcli.2022.11.001