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Endocrine Jun 2022Tumor induced osteomalacia (TIO) is a rare disease of mineral metabolism, whose clinical picture is dominated by hypophosphatemia usually due to an excess of circulating...
PURPOSE
Tumor induced osteomalacia (TIO) is a rare disease of mineral metabolism, whose clinical picture is dominated by hypophosphatemia usually due to an excess of circulating FGF23 produced by small mesenchymal tumors. Data on the real prevalence of the disease are lacking, with the knowledge of the disease mainly relying on case reports and small case series. No estimate is available on the prevalence of uncured TIO.
METHODS
National multi-center, cross-sectional and retrospective study on persistent or recurrent cases of TIO followed in referral centers for bone diseases; systematic review of the published persistent and recurrent cases of TIO. Data from patients consecutively evaluated in referral Italian centers for bone diseases were collected; a PubMed search on persistent, recurrent and unoperable cases of TIO was carried out.
RESULTS
Sixteen patients (mean age at diagnosis 52.5 ± 10.6 years) with persistent (n = 6, 37,5%), recurrent (n = 7, 43.7%) or not operable (n = 3, 18.8%) TIO were described. Delay in diagnosis (2.5 ± 1.3 years) was demonstrated. All patients experienced fragility fractures or pseudofractures and disabling bone and muscle pain. BMD was significantly reduced (mean T-score -2.7 ± 1.7 and -2.7 ± 0.9 at lumbar spine and femoral neck, respectively). Fourteen patients were maintained under therapy with phosphate salts and calcitriol, while in 2 patients therapy with burosumab, an anti-FGF23 antibody, was commenced.
CONCLUSION
A significant number of patients with TIO remain either undiagnosed for tumor localization or tumor recur or persist after surgery. These patients with active disease represent possible candidates for burosumab treatment.
Topics: Cross-Sectional Studies; Fibroblast Growth Factors; Humans; Hypophosphatemia; Osteomalacia; Paraneoplastic Syndromes; Retrospective Studies
PubMed: 35381903
DOI: 10.1007/s12020-022-03039-2 -
Neuroepidemiology 2020Myasthenia gravis (MG) is an autoimmune disease whose period of typical onset is around 20-40 years (i.e., early onset), thus in the peak of working age, or around 60-80... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Myasthenia gravis (MG) is an autoimmune disease whose period of typical onset is around 20-40 years (i.e., early onset), thus in the peak of working age, or around 60-80 years (i.e., late onset). However, the information on work-related issues and employment status are sparse and not systematically reported. Therefore, we performed a systematic literature review with meta-analysis to address the employment status of MG patients.
METHODS
We searched for papers reporting employment status on participants with MG published between January 2000 and May 2019. Information on employment was extracted. Random-effects models were used to produce meta-analytic estimates for the proportion of employed patients.
RESULTS
In total, 1,045 records were retrieved, of which 19 fitted the inclusion criteria. In total, 3,600 participants (average age 47.5, range 35-60) were included in the studies and 1,579 of them were employed. The proportion of employed patients varied from 28 to 82%, with an extreme heterogeneity between studies. Overall, the pooled proportion of workers was 50% (95% CI 41-60%). Subgroup analyses suggested a possible, although not significant, higher proportion of workers among women, younger participants, those with a higher level of education, shorter MG duration, and less frequently thymectomized, whereas a lower proportion was observed among those with generalized, bulbar, and respiratory symptoms.
CONCLUSIONS
The results of our meta-analysis show that the percentage of employment is considerably low if we take into account that the mean age of MG patients involved in the included studies was around 48 years, thus in peak of working life. Therefore, it is important to understand what kind of influence MG exerts on work dynamics.
Topics: Adult; Employment; Female; Humans; Male; Middle Aged; Myasthenia Gravis
PubMed: 32097937
DOI: 10.1159/000506310 -
Hematology/oncology and Stem Cell... Jun 2021Neurological complications occur at a high frequency after hematopoietic cell transplantation (HCT). However, an absence is noted in the published literature as regards... (Meta-Analysis)
Meta-Analysis
OBJECTIVE/BACKGROUND
Neurological complications occur at a high frequency after hematopoietic cell transplantation (HCT). However, an absence is noted in the published literature as regards the quantification of the exact burden and the outcomes thereof. In this systematic review, we endeavored to detail if the recipients of HCT developed any noninfectious neurological events/complications.
METHODS
According to the PICO criteria, medical literature was searched. Complications that were evaluated included: stroke, peripheral neuropathy, myasthenia gravis, seizures, and posterior reversible encephalopathy syndrome. After strictly defining relevant variables and parameters, data from 173 eligible articles were then extracted accordingly, from the full text for each, for quantitative analysis; additionally, two American Society of Hematology conference abstracts were also subject to data extraction.
RESULTS
As is evident from the results of the data analysis, an increased frequency of these complications was seen in the HCT recipient population in comparison to the general population. The relative risk ranged from 1.33× to 142× depending on the complication studied.
CONCLUSION
These findings demonstrate that the recipients of HCT had a significantly higher risk of neurological complications and that their early recognition can enhance the monitoring of HCT survivors for the early developmental signs of neurological toxicity. This would facilitate timely interventions, thus ensuring a better quality of life.
Topics: Animals; Hematopoietic Stem Cell Transplantation; Humans; Myasthenia Gravis; Peripheral Nervous System Diseases; Posterior Leukoencephalopathy Syndrome; Seizures; Stroke
PubMed: 32516577
DOI: 10.1016/j.hemonc.2020.05.006 -
Interactive Cardiovascular and Thoracic... Mar 2022Our goal was to evaluate the effect of thymectomy on the progression of thymolipomatous myasthenia gravis.
OBJECTIVES
Our goal was to evaluate the effect of thymectomy on the progression of thymolipomatous myasthenia gravis.
METHODS
An electronic search performed across PubMed, MEDLINE and Web of Science databases included all article types. We included 15 series comprising 36 cases that met specific criteria, including case reports or case series related to thymolipoma with a myasthenia gravis association, where thymectomy was cited as the primary intervention with postoperative reporting of the prognosis and articles written in the English language.
RESULTS
Our study included 17 men (47.2%) and 19 women (52.8%). Tumour sizes varied between 34 × 18 × 7 cm and 2.8 × 2.3 × 1.9 cm; the weight of the tumours ranged between 38 and 1780 g (mean 190, standard deviation 341). The surgical approaches were a median sternotomy in 29 patients (80.6%), a thoracotomy in 1 patient (2.8%), video-assisted thoracoscopic surgery in 2 patients (5.6%) and unreported approaches in 4 (11.1%) patients. The disease was entirely resolved with complete, stable remission in 5 patients (13.9%); symptoms were improved in 19 (52.8%) and stable in 10 patients (27.7%). We identified 2 groups of patients according to their improvement post-thymectomy (improved group and group with no change).
CONCLUSIONS
Although the cases were uncontrolled and did not demonstrate strong associations, they do support some hypotheses. We found a significant statistical difference between the 2 groups in terms of age, because younger patients tended to improve to a greater degree post-thymectomy. Also, we found that female patients with thymoma visible on the imaging scans were significantly associated with post-thymectomy myasthenia gravis improvement.
REGISTRATION NUMBER IN PROSPERO
CRD42020173229.
Topics: Female; Humans; Male; Myasthenia Gravis; Thymectomy; Thymoma; Thymus Neoplasms; Treatment Outcome
PubMed: 35362060
DOI: 10.1093/icvts/ivab295 -
Journal of Neuroimmunology Sep 2023Resection of an underlying ovarian teratoma in patients with N-Methyl-d-Aspartate receptor (NMDAR)-antibody encephalitis is supported by pathophysiological studies... (Meta-Analysis)
Meta-Analysis Review
Resection of an underlying ovarian teratoma in patients with N-Methyl-d-Aspartate receptor (NMDAR)-antibody encephalitis is supported by pathophysiological studies demonstrating the production of NMDAR antibodies within the teratoma. This systematic review assesses the clinical effect of teratoma resection and compares early versus late resection. Literature search was performed on the first of October 2022 (MEDLINE, Embase, CENTRAL, Web of Science). Original studies including more than three patients with NDMAR encephalitis and associated ovarian teratoma were included and evaluated with the Study Quality Assessment Tool for risk of bias. Fourteen studies referring to 1499 patients were included and analyzed in four syntheses using the fixed Mantel-Haenszel method. The rate of relapse in patients with ovarian teratoma resection was lower than in patients without resection (risk ratio for relapse 0.30, 95% CI 0.17-0.51), however the certainty level of evidence is very low. Despite some evidence pointing to a beneficial effect of early teratoma resection in patients with NMDAR-antibody encephalitis, systematically accessible data are insufficient to provide recommendations for or against resection, as well as for timing of surgery. The authors received no financial support for the research, authorship, or publication of this article. For the systematic review no clinical-trial database registration had been done.
Topics: Female; Humans; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Receptors, N-Methyl-D-Aspartate; Neoplasm Recurrence, Local; Ovarian Neoplasms; Teratoma; Autoantibodies
PubMed: 37499300
DOI: 10.1016/j.jneuroim.2023.578153 -
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 -
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 -
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