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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 -
Journal of Neurology Oct 2022A variety of psychiatric syndromes are associated with NMDAR autoantibodies; however, their clinical relevance when only present in the serum is unclear. We explored... (Meta-Analysis)
Meta-Analysis Review
The clinical relevance of serum versus CSF NMDAR autoantibodies associated exclusively with psychiatric features: a systematic review and meta-analysis of individual patient data.
BACKGROUND
A variety of psychiatric syndromes are associated with NMDAR autoantibodies; however, their clinical relevance when only present in the serum is unclear. We explored whether patients with CSF NMDAR autoantibodies could be distinguished from patients with serum-only NMDAR autoantibodies.
METHODS
The electronic databases MEDLINE, EMBASE, PubMed, and PsycINFO were searched. Articles reporting adult patients with isolated psychiatric features and positive for NMDAR autoantibodies with relevant investigations were included. Patient level meta-analysis compared patients positive for CSF NMDAR autoantibodies with patients positive for serum NMDAR autoantibodies, but negative for CSF NMDAR autoantibodies. Dichotomous data were analysed using crude odds ratios (OR), whilst continuous data were analysed using Mann-Whitney Test (U). The protocol was prospectively registered (CRD42018082210).
RESULTS
Of 4413 publications, 42 were included, reporting 79 patients. Median age was 34 years (IQR 19 years); 56% (45/79) were female and 24% (16/68) had a tumour. In total, 41 patients were positive for CSF autoantibodies and 20 were positive for serum-only autoantibodies. Patients with CSF autoantibodies were significantly more likely to be female (p < 0.001) and have a rapid (< 3 month) onset of symptoms (p = 0.02) than patients with serum-only autoantibodies. They were also more likely to present with psychosis (p < 0.001), exhibit EEG (p = 0.006), MRI (p = 0.002), and CSF (p = 0.001) abnormalities, but less likely to present with insomnia (p = 0.04).
CONCLUSIONS
Patients with an isolated psychiatric syndrome with CSF NMDAR autoantibodies can potentially be distinguished from those with serum-only NMDAR autoantibodies based on clinicodemographic and investigation findings.
Topics: Adult; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Autoantibodies; Female; Humans; Male; Psychotic Disorders; Receptors, N-Methyl-D-Aspartate
PubMed: 35790561
DOI: 10.1007/s00415-022-11224-6 -
Clinical Case Reports Jun 2024The co-occurrence of myasthenia gravis (MG) and lichen planus (LP) is a rare phenomenon, with only 13 cases reported in the English literature between 1971 and 2024....
KEY CLINICAL MESSAGE
The co-occurrence of myasthenia gravis (MG) and lichen planus (LP) is a rare phenomenon, with only 13 cases reported in the English literature between 1971 and 2024. Patients with MG or LP, regardless of the thymoma status, require close monitoring for other autoimmune diseases.
ABSTRACT
Myasthenia gravis (MG) is an uncommon autoimmune disease, resulting in fatigable muscle weakness in the ocular, bulbar, and respiratory muscles, as well as muscles of the extremities. Lichen planus (LP) is an autoimmune mucocutaneous disease, presenting with pruritic and violaceous plaques on the skin and mucosal surfaces. So far, MG and LP co-occurrence is only reported in anecdotal individuals. This study reports a patient with MG and LP and systematically reviews the English literature on this rare co-occurrence from 1971 to 2024, indicating only 13 cases with similar conditions. A 67-year-old man presented with ocular and progressive bulbar symptoms, a year after being diagnosed with generalized LP. Laboratory evaluations were normal except for the high anti-AchR-Ab titer and a positive ANA titer. Neurologic examinations revealed asymmetric bilateral ptosis, weakness and fatigability in proximal muscles, and a severe reduction in the gag reflex. He was diagnosed with late-onset, seropositive MG. The treatment included pyridostigmine (60 mg, three times daily), intravenous immunoglobulin (25 g daily for 5 days), and oral prednisolone. There was no evidence of thymoma in the chest x-ray and CT scan without contrast. However, a CT scan with contrast was not performed due to the patient's unstable condition. A common autoimmune mechanism may underlie the unclear pathophysiology of MG and LP co-occurrence, with or without thymoma. Patients with MG, LP, or thymoma require close monitoring and assessment for other possible autoimmune diseases.
PubMed: 38883218
DOI: 10.1002/ccr3.9065 -
Acta Bio-medica : Atenei Parmensis Jan 2022Myasthenia Gravis (MG) is a rare neurological condition characterized by muscle weakness that worsens after use. Myeloproliferative Neoplasms (MPNs) are disorders due to...
Myasthenia Gravis (MG) is a rare neurological condition characterized by muscle weakness that worsens after use. Myeloproliferative Neoplasms (MPNs) are disorders due to stem-cell hyperplasia characterized by an increased peripheral blood cell count, overactive bone marrow, and proliferation of mature hematopoietic cells. MPNs may be Philadelphia (Ph) chromosome-positive or Negative .A systematic review of case reports was conducted by searching PubMed, Scopus, and Google scholar to identify case reports in which there is an association between MG and MPN and know whether MG can be considered a possible neurological paraneoplastic syndrome in patients with MPNs. A total of 13 cases of MPNs associated with MG were identified. The most common type of MPN associated with MG was chronic myeloid leukemia (CML) (10 out of 13 patients). In most of the patients, MG symptoms appeared after a diagnosis of MPN was made. Considering that 10 out of the 13 patients in our cohort had positive auto-antibodies though only 4 of them had thymic hyperplasia, we hypothesize that bone marrow proliferation was responsible for the production of autoantibodies in these patients.As the clonal cell population cannot be eliminated entirely in the bone marrow even after treatment with tyrosine kinase inhibitors (TKI) in Ph +ve MPNs and JAK2 inhibitors in Ph -ve MPNS, MG can occur even in patients who are treated with these agents. A high index of suspicion is needed to diagnose it early, and treatment should be initiated immediately with steroids and anticholinergic agents.
Topics: Bone Marrow; Humans; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Myasthenia Gravis; Myeloproliferative Disorders; Paraneoplastic Syndromes, Nervous System
PubMed: 35075066
DOI: 10.23750/abm.v92i6.12180 -
Orphanet Journal of Rare Diseases Jun 2018The objective of this study is to evaluate by means of a systematic review, the efficacy of thymectomy as compared to medical treatment for non-thymomatous myasthenia... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The objective of this study is to evaluate by means of a systematic review, the efficacy of thymectomy as compared to medical treatment for non-thymomatous myasthenia gravis (MG).
METHODS
Medline, Embase, and Lilacs were searched for experimental and observational studies that compared non-surgical (drug therapy) and surgical treatment of non-thymomatous MG (thymectomy performed by the transsternal approach). Inclusion criteria were: studies that compared the two types of treatment and had at least 10 adult patients in each group. Exclusion criteria were articles published before 1970, as well as those that included patients treated before 1950. The outcomes evaluated were: remission, and improvement rates. RevMan 5.3 software provided by the Cochrane Collaboration was used. When the heterogeneity between the studies was greater than 75%, a meta-analysis was not performed according to RevMan guidelines.
RESULTS
The total number of patients evaluated in 19 articles selected was 5841 (2911 surgical and 2930 non-surgical). Two included randomized clinical trials showed superiority of the surgical treatment over the non-surgical. Four retrospective studies with 379 patients paired by gender, age, and other confounders, also showed superiority of surgical treatment (OR 4.10, 95% CI 2.25 to 7.44; I = 20%). In meta-analyses, remission assessed in 17 studies (5686 patients) was greater in patients who underwent surgical treatment (OR 2.34, 95% CI 1.79 to 3.05; I = 56%). For improvement assessed in 13 studies (3063 patients) were not appropriate to carry out the meta-analysis due to the high heterogeneity among the studies in the outcome (87%).
CONCLUSION
Thymectomy may be considered effective in the treatment for non-thymomatous MG, with remission rate higher than for non-surgical treatment.
Topics: Female; Humans; Male; Myasthenia Gravis; Thymectomy
PubMed: 29940999
DOI: 10.1186/s13023-018-0837-z -
Frontiers in Endocrinology 2021To analyze and summarize the clinical characteristics, treatments, and prognosis of Cushing's syndrome (CS) with nocardiosis.
OBJECTIVE
To analyze and summarize the clinical characteristics, treatments, and prognosis of Cushing's syndrome (CS) with nocardiosis.
METHODS
A patient in our hospital and additional 17 patients of CS with nocardiosis in the English literature were included in this study. Clinical characteristics, laboratory data, imaging studies, treatments, and prognosis were evaluated.
RESULTS
A 41-year-old man with CS was diagnosed and treated in our hospital. He had co-infections of nocardiosis and aspergillosis. Together with 17 patients of CS with nocardiosis in the English literature, 2 patients (11.1%) were diagnosed as Cushing's disease (CD) while 16 (88.9%) were diagnosed or suspected as ectopic ACTH syndrome (EAS). The average 24hrUFC was 7,587.1 ± 2,772.0 μg/d. The average serum total cortisol and ACTH (8 AM) was 80.2 ± 18.7 μg/dl and 441.8 ± 131.8 pg/ml, respectively. The most common pulmonary radiologic findings in CT scan were cavitary lesions (10/18) and nodules (8/18). Co-infections were found in 33.3% (6/18) patients. The CS patients with co-infections had higher levels of ACTH (671.5 ± 398.2 245.5 ± 217.1 pg/ml, = 0.047), and 38.9% (7/18) patients survived through the antibiotic therapy and the treatment of CS. Patients with lower level of ACTH (survival mortality: 213.1 ± 159.0 554.7 ± 401.0 pg/ml, P = 0.04), no co-infection, underwent CS surgery, and received antibiotic therapy for more than 6 months, had more possibilities to survive.
CONCLUSIONS
Nocardia infection should be cautioned when a patient of CS presented with abnormal chest radiographs. The mortality risk factors for CS with nocardiosis are high level of ACTH and co-infections. We should endeavor to make early etiological diagnosis, apply long-term sensitive antibiotics and aggressive treatments of CS.
Topics: ACTH Syndrome, Ectopic; Adrenocorticotropic Hormone; Adult; Anti-Bacterial Agents; Cushing Syndrome; Female; Humans; Male; Middle Aged; Nocardia Infections; Prognosis; Radiography, Thoracic; Risk; Risk Factors
PubMed: 33854481
DOI: 10.3389/fendo.2021.640998 -
Neurological Sciences : Official... Jun 2024As autoimmune encephalitis (AE) often involves the mesial temporal structures which are known to be involved in both sudden unexpected death in epilepsy (SUDEP) and...
OBJECTIVE
As autoimmune encephalitis (AE) often involves the mesial temporal structures which are known to be involved in both sudden unexpected death in epilepsy (SUDEP) and ictal asystole (IA), it may represent a good model to study the physiopathology of these phenomena. Herein, we systematically reviewed the occurrence of SUDEP and IA in AE.
METHODS
We searched 4 databases (MEDLINE, Scopus, Embase, and Web of Science) for studies published between database inception and December 20, 2022, according to the PRISMA guidelines. We selected articles reporting cases of definite/probable/possible/near-SUDEP or IA in patients with possible/definite AE, or with histopathological signs of AE.
RESULTS
Of 230 records assessed, we included 11 cases: 7 SUDEP/near-SUDEP and 4 IA. All patients with IA were female. The median age at AE onset was 30 years (range: 15-65), and the median delay between AE onset and SUDEP was 11 months; 0.9 months for IA. All the patients presented new-onset seizures, and 10/11 also manifested psychiatric, cognitive, or amnesic disorders. In patients with SUDEP, 2/7 were antibody-positive (1 anti-LGI1, 1 anti-GABABR); all IA cases were antibody-positive (3 anti-NMDAR, 1 anti-GAD65). Six patients received steroid bolus, 3 intravenous immunoglobulin, and 3 plasmapheresis. A pacemaker was implanted in 3 patients with IA. The 6 survivors improved after treatment.
DISCUSSION
SUDEP and IA can be linked to AE, suggesting a role of the limbic system in their pathogenesis. IA tends to manifest in female patients with temporal lobe seizures early in AE, highlighting the importance of early diagnosis and treatment.
Topics: Humans; Sudden Unexpected Death in Epilepsy; Encephalitis; Heart Arrest; Hashimoto Disease; Female; Adolescent; Adult; Epilepsy; Young Adult; Middle Aged
PubMed: 38194197
DOI: 10.1007/s10072-023-07280-z -
Neurologia I Neurochirurgia Polska 2019To review the available research to describe the clinical characteristics and neoplastic associations of patients with gamma-aminobutyric acid receptor type B (GABAB-R)...
OBJECTIVE
To review the available research to describe the clinical characteristics and neoplastic associations of patients with gamma-aminobutyric acid receptor type B (GABAB-R) autoantibodies.
METHODS
Literature was reviewed on PubMed, Mendeley literature search, and the American Academy of Neurology database for articles published from June 2008 to October of 2018 using a variety of key words. These key words include: "gamma-aminobutyric acid seizures," "gamma-aminobutyric acid limbic encephalitis", "GABA(B) receptor antibodies," "autoimmune encephalitis," "autoimmune epilepsy," "GABA(B) encephalitis, " and "GABA paraneoplastic." With the results, the papers were reviewed in a systematic manner.
RESULTS
A total of 10 studies were reviewed. A summary of the demographic, clinical, and serological findings of the cases detailed in the literature are provided. An additional illustrative case is described. In total, 94 patients were reviewed.
CONCLUSIONS
GABAB-R autoimmune disease is characterized by refractory seizures or status epilepticus and frequent association with small cell lung cancer. Additionally, a substantial minority of patients have non-inflammatory CSF.
Topics: Autoantibodies; Autoimmunity; Encephalitis; Humans; Limbic Encephalitis; Receptors, GABA; Receptors, GABA-B; gamma-Aminobutyric Acid
PubMed: 30620044
DOI: 10.5603/PJNNS.a2018.0005 -
Orphanet Journal of Rare Diseases May 2021The effects of thymectomy on late-onset non-thymomatous myasthenia gravis (NTMG) remain controversial. The objective of this study was to conduct a systematic review in... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The effects of thymectomy on late-onset non-thymomatous myasthenia gravis (NTMG) remain controversial. The objective of this study was to conduct a systematic review in order to answer two questions pertinent to late-onset NTMG: (1) do patients with late-onset NTMG experience the same effects from thymectomy as their early-onset counterparts? (2) Compared with conservative treatment, does thymectomy have any benefits for late-onset NTMG patients?
METHODS
We searched the PubMed, EMBASE, and Cochrane Library databases for studies published from January 1, 1950 to March 10, 2021. Outcomes were measured via clinical stable remission/pharmacological remission (CSR/PR) and improvement rates. We used Stata software to analyze the data.
RESULTS
We ultimately included a total of 12 observational articles representing the best evidence answering the questions of our study objective. Of these, nine studies, which included 896 patients overall (766 early-onset and 230 late-onset), compared postoperative outcomes between early- and late-onset NTMG. The remaining three articles, which included 216 patients (75 in the thymectomy group and 141 in the conservative-treatment group), compared thymectomy with conservative treatment for late-onset NTMG. The early- versus late-onset NTMG studies demonstrated that patients in the former category were 1.95× likelier than their late-onset counterparts to achieve clinical remission (odds ratio [OR] 1.95; 95% confidence interval [CI] 1.39-2.73; I = 0%). No difference was seen in improvement or remission + improvement rates between these two groups. When comparing thymectomy with conservative treatments in late-onset NTMG patients, neither did we observe any difference in CSR/PR.
CONCLUSION
We found that late-onset NTMG patients had a lower chance of achieving CSR after thymectomy than early-onset patients. Thymectomy in late-onset NTMG also yielded no benefit to CSR or PR compared with conservative treatments. In late-onset NTMG patients, thymectomy should therefore be performed with caution, and the appropriate cutoff between early- and late-onset MG should be further explored in order to tailor and execute the proper therapeutic strategies.
Topics: Humans; Myasthenia Gravis; Observational Studies as Topic; Retrospective Studies; Thymectomy; Treatment Outcome
PubMed: 34016126
DOI: 10.1186/s13023-021-01860-y -
Orphanet Journal of Rare Diseases Oct 2014The association of ovarian teratoma and anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a serious and potentially fatal pathology that occurs in young women...
The association of ovarian teratoma and anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a serious and potentially fatal pathology that occurs in young women and that is under-recognized. Our objectives were to analyze prevalence and outcome of this association, and increase awareness over this pathology. MEDLINE and SCOPUS for all studies published prior to November 30, 2013 including the search terms: "encephalitis" and "teratoma" were considered. All articles (119) reporting one or more cases of anti-NMDAR encephalitis and confirmed ovarian teratoma (174 cases) were included. No language restrictions were applied. Suspicious cases with no evidence of ovarian teratoma (n = 40) and another type of encephalitis also associated to ovarian teratoma (n = 20) were also considered for comparison and discussion. Data of publication and case report, surgery and outcome were collected. The distribution of published cases is heterogeneous among different countries and continents, probably in relation with level of development and health care. The mean patient age is 24 years and in the majority of cases (74%), a mature teratoma was identified, sometimes microscopically following ovarian removal or at autopsy. The clinical presentation featured psychiatric symptoms and behavioural changes, with a median delay for surgery of 28 days. Twelve women died (7%), most frequently from encephalitis-related complications. In conclusion, the association ovarian teratoma and anti-NMDAR encephalitis is relatively unknown or not reported in many countries and among gynecologists. Heightened recognition of behavioral changes, diagnosis through transvaginal ultrasound and subsequent tumor removal in addition to diagnostic confirmation through the presence of anti-NMDAR antibodies must be emphasized.
Topics: Adolescent; Adult; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Female; Humans; Ovarian Neoplasms; Teratoma; Young Adult
PubMed: 25312434
DOI: 10.1186/s13023-014-0157-x