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2.
Digit J Ophthalmol ; 30(1): 15-18, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38601901

RESUMEN

We report 2 cases of pediatric ocular myasthenia gravis. The first case was a 7-year-old girl who presented with bilateral ophthalmoplegia and ptosis that correlated with the onset of upper respiratory symptoms. Neuroimaging and acetylcholine receptor antibody testing were unremarkable. The ice pack test was positive. Symptoms greatly improved with pyridostigmine, with full resolution of ophthalmoplegia achieved by 8-month follow-up. The second case was a 4-year-old girl who presented emergently with ptosis and bilateral ophthalmoplegia. Acetylcholine receptor antibodies testing was positive. The patient was started on pyridostigmine and intravenous immunoglobulin and is scheduled to follow-up with pediatric ophthalmology in the outpatient setting.


Asunto(s)
Blefaroptosis , Miastenia Gravis , Oftalmoplejía , Femenino , Niño , Humanos , Preescolar , Bromuro de Piridostigmina/uso terapéutico , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Blefaroptosis/diagnóstico , Blefaroptosis/etiología , Oftalmoplejía/diagnóstico , Oftalmoplejía/etiología , Receptores Colinérgicos , Autoanticuerpos
3.
BMC Neurol ; 24(1): 121, 2024 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-38609854

RESUMEN

BACKGROUND: Uraemia causes a generalised encephalopathy as its most common neurological complication. Isolated brainstem uraemic encephalopathy is rare. We report a case of fatigable ptosis and complex ophthalmoplegia in brainstem uraemic encephalopathy. CASE PRESENTATION: A 22-year-old Sri Lankan man with end stage renal failure presented with acute onset diplopia and drooping of eyelids progressively worsening over one week. The patient had not complied with the prescribed renal replacement therapy which was planned to be initiated 5 months previously. On examination, his Glasgow coma scale score was 15/15, He had a fatigable asymmetrical bilateral ptosis. The ice-pack test was negative. There was a complex ophthalmoplegia with bilateral abduction failure and elevation failure of the right eye. The diplopia did not worsen with prolonged stare. The rest of the neurological examination was normal. Serum creatinine on admission was 21.81 mg/dl. The repetitive nerve stimulation did not show a decremental pattern. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse midbrain and pontine oedema with T2 weighted/FLAIR hyperintensities. The patient was haemodialyzed on alternate days and his neurological deficits completely resolved by the end of the second week of dialysis. The follow up brain MRI done two weeks later demonstrated marked improvement of the brainstem oedema with residual T2 weighted/FLAIR hyperintensities in the midbrain. CONCLUSIONS: Uraemia may rarely cause an isolated brainstem encephalopathy mimicking ocular myasthenia, which resolves with correction of the uraemia.


Asunto(s)
Encefalopatías Metabólicas , Encefalopatías , Miastenia Gravis , Oftalmoplejía , Uremia , Masculino , Humanos , Adulto Joven , Adulto , Diplopía , Tronco Encefálico/diagnóstico por imagen , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Uremia/complicaciones , Uremia/diagnóstico , Uremia/terapia , Encefalopatías/diagnóstico , Edema , Oftalmoplejía/diagnóstico , Oftalmoplejía/etiología
4.
J Neurol Sci ; 460: 123017, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38640581

RESUMEN

BACKGROUND: Myasthenia gravis (MG) is an immune disorder that causes muscle weakness with an increasing prevalence, particularly among the elderly in Japan. Glucocorticoid treatment for MG is problematic for bone health because of reduced bone density and increased fracture risk. The fracture risk assessment tool (FRAX®) can estimate fracture risk, but its applicability in patients with MG remains uncertain. METHODS: A prospective cohort study was conducted on 54 patients with MG between April and July 2012. Bone mineral density (BMD) was measured, and FRAX® scores were calculated with and without BMD. We also adjusted FRAX® scores based on glucocorticoid dosage. Patients were monitored for major osteoporotic fractures (MOF) until June 2022. Statistical analyses included Kaplan-Meier curves and Cox proportional hazards models. RESULTS: The study group included 12 men and 42 women with a mean age of 62 years. Higher FRAX® scores correlated with increased fracture risk, particularly in the hip and lumbar regions. The 10-year fracture-free rate was significantly lower in the high-FRAX® score group. The FRAX® score using BMD is a significant predictor of MOF risk. The hazard ratio for FRAX® scores was 1.17 (95% CI 1.10-1.26). CONCLUSION: We demonstrated the effectiveness of the FRAX® tool in assessing fracture risk among patients with MG. High FRAX® scores correlated with increased fracture risk, emphasizing its importance. These findings support the incorporation of FRAX® assessment into clinical management to enhance patient care and outcomes. However, the small sample size and observational nature suggest a need for further research.


Asunto(s)
Densidad Ósea , Miastenia Gravis , Fracturas Osteoporóticas , Humanos , Masculino , Femenino , Miastenia Gravis/epidemiología , Miastenia Gravis/diagnóstico , Miastenia Gravis/complicaciones , Anciano , Persona de Mediana Edad , Medición de Riesgo/métodos , Japón/epidemiología , Fracturas Osteoporóticas/epidemiología , Fracturas Osteoporóticas/etiología , Estudios Prospectivos , Estudios de Cohortes , Glucocorticoides/uso terapéutico , Glucocorticoides/efectos adversos , Anciano de 80 o más Años , Adulto , Pueblos del Este de Asia
5.
Neurology ; 102(10): e209395, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38669629

RESUMEN

BACKGROUND AND OBJECTIVES: We developed repetitive ocular vestibular-evoked myogenic potentials (roVEMP) as an electrophysiologic test that allows us to elicit the characteristic decrement of extraocular muscles in patients with ocular myasthenia gravis (OMG). Case-control studies demonstrated that roVEMP reliably differentiates patients with OMG from healthy controls. We now aimed to evaluate the diagnostic accuracy of roVEMP for OMG diagnosis in patients with ptosis and/or diplopia. METHODS: In this blinded prospective diagnostic accuracy trial, we compared roVEMP in 89 consecutive patients presenting with ptosis and/or diplopia suspicious of OMG with a multimodal diagnostic approach, including clinical examination, antibodies, edrophonium testing, repetitive nerve stimulation of accessory and facial nerves, and single-fiber EMG (SFEMG). We calculated the roVEMP decrement as the ratio between the mean of the first 2 responses compared with the mean of the sixth-ninth responses in the train and used cutoff of >9% (unilateral decrement) in a 30 Hz stimulation paradigm. RESULTS: Following a complete diagnostic work-up, 39 patients (44%) were diagnosed with ocular MG, while 50 patients (56%) had various other neuro-ophthalmologic conditions, but not MG (non-MG). roVEMP yielded 88.2% sensitivity, 30.2% specificity, 50% positive predictive value (PPV), and 76.5% negative predictive value (NPV). For comparison, SFEMG resulted in 75% sensitivity, 56% specificity, 55.1% PPV, and 75.7% NPV. All other diagnostic tests (except for the ice pack test) also yielded significantly higher positive results in patients with MG compared with non-MG. DISCUSSION: The study revealed a high sensitivity of 88.2% for roVEMP in OMG, but specificity and PPV were too low to allow for the OMG diagnosis as a single test. Thus, differentiating ocular MG from other neuro-ophthalmologic conditions remains challenging, and the highest diagnostic accuracy is still obtained by a multimodal approach. In this study, roVEMP can complement the diagnostic armamentarium for the diagnosis of MG. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in patients with diplopia and ptosis, roVEMP alone does not accurately distinguish MG from non-MG disorders. TRIAL REGISTRATION INFORMATION: ClinicalTrials.gov: NCT03049956.


Asunto(s)
Blefaroptosis , Diplopía , Miastenia Gravis , Potenciales Vestibulares Miogénicos Evocados , Humanos , Miastenia Gravis/diagnóstico , Miastenia Gravis/fisiopatología , Miastenia Gravis/complicaciones , Masculino , Femenino , Diplopía/diagnóstico , Diplopía/fisiopatología , Diplopía/etiología , Persona de Mediana Edad , Potenciales Vestibulares Miogénicos Evocados/fisiología , Adulto , Blefaroptosis/diagnóstico , Blefaroptosis/fisiopatología , Blefaroptosis/etiología , Anciano , Estudios Prospectivos , Electromiografía/métodos , Sensibilidad y Especificidad , Músculos Oculomotores/fisiopatología , Adulto Joven
6.
BMC Neurol ; 24(1): 139, 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38664714

RESUMEN

BACKGROUND: Non-motor symptoms in myasthenia gravis (MG) are rarely confirmed. Although there are some small cohort studies, a large-systemic survey has not yet been performed. METHODS: We investigated the incidence and clinical characteristics of patients with MG who had taste disorders and alopecia using data of 1710 patients with MG enrolled in the Japan MG Registry 2021. RESULTS: Among them, 104 (6.1%) out of 1692 patients and 138 (8.2%) out of 1688 patients had histories of taste disorders and alopecia, respectively. Among the patients with MG, taste disorders were significantly more common in women, those with severe symptoms, refractory MG, or thymoma-associated MG, and were less common in those with ocular MG. The taste disorders often occurred after the onset of MG and often responded to MG treatments. Alopecia was more common in MG patients with a history of bulbar palsy and thymoma, and it often occurred before the onset of MG and sometimes responded to MG treatments. Multivariate logistic regression analysis revealed taste disturbance was associated with worst quantitative MG score and thymoma-associated MG; and alopecia was associated with thymoma-associated MG. CONCLUSION: Clinicians should be aware of the non-motor symptoms in MG, especially in patients with severe myasthenic symptoms and thymoma-associated MG.


Asunto(s)
Alopecia , Miastenia Gravis , Trastornos del Gusto , Humanos , Miastenia Gravis/epidemiología , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Alopecia/epidemiología , Alopecia/diagnóstico , Femenino , Masculino , Trastornos del Gusto/epidemiología , Trastornos del Gusto/etiología , Persona de Mediana Edad , Adulto , Anciano , Japón/epidemiología , Sistema de Registros , Timoma/complicaciones , Timoma/epidemiología , Incidencia
7.
Neurol India ; 72(1): 148-150, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38443018

RESUMEN

ABSTRACT: Infection is an important trigger of myasthenic crisis (MC), and those infections manifest with pneumonia and muscle involvement may result in more frequent MC. We report two myasthenia gravis (MG) patients with H1N1 infection, and highlight the reasons for deterioration. Two patients with MG had H1N1 infection. The diagnosis of MG was confirmed by neostigmine, repetitive nerve stimulation, and anti-acetylcholine receptor antibody tests. H1N1 was confirmed by nucleic acid detection study, and myositis by creatinine kinase. The patient with pneumonia and myositis had MC needing mechanical ventilation for 10 days, and the other patient without myositis did not have MC. They were treated with oseltamivir 75 mg twice daily for 5 days, and the patients with MC received ceftriaxone intravenously. Both the patients were on prednisolone and azathioprine, and none received prior H1N1 vaccination. The lady with MC with myositis was discharged on day 27 in wheelchair bound state, and the other one patient without myositis or MC was discharged on 6th day with full recovery. These patients highlight the need for evaluation for myositis along with pneumonia in the MG patients with H1N1 infection. Vaccination in MG patients on immunosuppression may be useful.


Asunto(s)
Subtipo H1N1 del Virus de la Influenza A , Miastenia Gravis , Miositis , Neumonía , Humanos , Miastenia Gravis/complicaciones , Miositis/diagnóstico , Neostigmina
9.
Rinsho Shinkeigaku ; 64(4): 292-295, 2024 Apr 24.
Artículo en Japonés | MEDLINE | ID: mdl-38508730

RESUMEN

A 79-year-old woman who presented ptosis and dysphagia were admitted to our hospital. Anti-acetylcholine receptor antibodies and anti-P/Q-type VGCC antibodies were both positive. Electrophysiological examination showed postsynaptic pattern which supported myasthenia gravis. She did not meet the diagnostic criteria for Lambert-Eaton myasthenic syndrome (LEMS). In cases which these antibodies coexist, careful electrophysiological evaluation is required for the diagnosis. In addition, although anti-P/Q-type VGCC antibodies have been specific to LEMS, patients with these antibodies represent various symptoms other than LEMS. Low and middle titer of the antibodies may be not specific to LEMS.


Asunto(s)
Autoanticuerpos , Miastenia Gravis , Receptores Colinérgicos , Humanos , Femenino , Miastenia Gravis/inmunología , Miastenia Gravis/diagnóstico , Miastenia Gravis/complicaciones , Anciano , Autoanticuerpos/sangre , Receptores Colinérgicos/inmunología , Canales de Calcio Tipo Q/inmunología , Canales de Calcio Tipo P/inmunología , Síndrome Miasténico de Lambert-Eaton/inmunología , Síndrome Miasténico de Lambert-Eaton/diagnóstico , Síndrome Miasténico de Lambert-Eaton/complicaciones
10.
J Int Med Res ; 52(3): 3000605241234585, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38443765

RESUMEN

Myasthenia gravis (MG) is often complicated by respiratory failure, an exacerbation known as myasthenic crisis. However, most patients with MG develop respiratory symptoms during the late course of the disease. Respiratory failure as an exclusive initial and primary complaint in patients with MG is rare and seldom reported. We herein describe a woman in her late 50s who presented with respiratory failure and was diagnosed with obesity hypoventilation syndrome at a local hospital. Her condition gradually worsened during the next 4 months and became accompanied by dysphagia. After 1 year of medical investigation, she was diagnosed in our hospital. A high level of anti-muscle-specific receptor tyrosine kinase antibody was found in her serum, and stimulation and electromyography results suggested MG. The patient's symptoms were improved by intravenous immunoglobulin and hormone therapy. This case reminds physicians to consider MG when encountering a patient who initially presents with respiratory failure.


Asunto(s)
Trastornos de Deglución , Miastenia Gravis , Insuficiencia Respiratoria , Femenino , Humanos , Electromiografía , Hospitales , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Insuficiencia Respiratoria/diagnóstico , Insuficiencia Respiratoria/etiología , Persona de Mediana Edad
11.
Neurology ; 102(8): e209282, 2024 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-38513158

RESUMEN

The concomitant presentation of thyroid-associated ophthalmopathy (TAO) and ocular myasthenia gravis is well documented. In the course of Graves disease (GD), symptomatic transient neuromuscular junction disorder may occur due to the effect of thyroid hormones at the neuromuscular synapse. Diagnostic clues are the clinical and electrophysiologic remission synchronous with restoration of euthyroidism. Furthermore, the occurrence of thymic hyperplasia in GD poses further diagnostic and therapeutic considerations. These points are discussed in the case report of a 43-year-old male patient suffering from TAO and transient neuromuscular junction disorder due to GD.


Asunto(s)
Enfermedad de Graves , Oftalmopatía de Graves , Miastenia Gravis , Masculino , Humanos , Adulto , Oftalmopatía de Graves/complicaciones , Oftalmopatía de Graves/diagnóstico , Enfermedad de Graves/complicaciones , Enfermedad de Graves/diagnóstico , Enfermedad de Graves/tratamiento farmacológico , Miastenia Gravis/complicaciones
12.
CNS Neurosci Ther ; 30(2): e14568, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38421083

RESUMEN

OBJECTIVES: This comprehensive review aimed to compile cases of patients with thymoma diagnosed with both autoimmune encephalitis (AE) and myasthenia gravis (MG), and describe their clinical characteristics. METHODS: Clinical records of 3 AE patients in the first affiliated hospital of Sun Yat-sen University were reviewed. All of them were diagnosed with AE between 1 November 2021 and 1 March 2022, and clinical evidence about thymoma and MG was found. All published case reports were searched for comprehensive literature from January 1990 to June 2022. RESULTS: A total of 18 cases diagnosed with thymoma-associated autoimmune encephalitis (TAAE) and thymoma-associated myasthenia gravis (TAMG) were included in this complication, wherein 3 cases were in the first affiliated hospital of Sun Yat-sen University and the other 15 were published case reports. 5/18 patients had alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody (AMPAR-Ab) in their serum and cerebrospinal fluid (CSF). All of them had positive anti-acetylcholine receptor antibody (AChR-Ab). And 12/18 patients showed a positive response to thymectomy and immunotherapy. Besides, thymoma recurrences were detected because of AE onset. And the shortest interval between operation and AE onset was 2 years in patients with thymoma recurrence. CONCLUSIONS: There was no significant difference in the clinical manifestations between these patients and others with only TAMG or TAAE. TAAE was commonly associated with AMPAR2-Ab. Significantly, AE more commonly heralded thymoma recurrences than MG onset. And the intervals of thymectomy and MG or AE onset had different meanings for thymoma recurrence and prognoses of patients.


Asunto(s)
Encefalitis , Enfermedad de Hashimoto , Miastenia Gravis , Timoma , Neoplasias del Timo , Humanos , Timoma/complicaciones , Timoma/diagnóstico , Timoma/cirugía , Neoplasias del Timo/complicaciones , Neoplasias del Timo/diagnóstico , Neoplasias del Timo/cirugía , Miastenia Gravis/complicaciones , Miastenia Gravis/terapia , Encefalitis/terapia , Encefalitis/complicaciones
13.
Neuroscience ; 544: 12-27, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38423165

RESUMEN

Whether patients with myasthenia gravis (MG) exhibit cognitive impairment is controversial. Also the underlying mechanisms are unknown. We aimed to investigate alterations in cognitive function, neurometabolite levels, and brain function in patients with MG and to explore the associations between abnormal regional brain functional activity, neurometabolite concentrations in the MPFC and left thalamus, and cognitive activity in patients with MG. Neuropsychological tests, proton magnetic resonance spectroscopy, and resting-state functional magnetic resonance imaging were performed on 41 patients with MG and 45 race-, sex-, age-, and education-matched healthy controls (HCs). The results suggest that MG is accompanied by cognitive decline, as indicated by global cognitive function, visual-spatial function, language, memory, abnormalities in regional brain functional activity, and neurometabolite alterations (including GABA, NAA, and Cho) in the medial prefrontal cortex (MPFC) and left thalamus. Cognitive impairment in patients with MG may be related to abnormal regional brain functional activity and changes in neurometabolites, and regional brain functional activity may be modulated by specific neurometabolites.


Asunto(s)
Disfunción Cognitiva , Miastenia Gravis , Humanos , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagen , Disfunción Cognitiva/diagnóstico por imagen , Espectroscopía de Protones por Resonancia Magnética/métodos , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico por imagen
14.
Front Endocrinol (Lausanne) ; 15: 1310083, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38405140

RESUMEN

Background: Previous studies have suggested a potential association between AITD and MG, but the evidence is limited and controversial, and the exact causal relationship remains uncertain. Objective: Therefore, we employed a Mendelian randomization (MR) analysis to investigate the causal relationship between AITD and MG. Methods: To explore the interplay between AITD and MG, We conducted MR studies utilizing GWAS-based summary statistics in the European ancestry. Several techniques were used to ensure the stability of the causal effect, such as random-effect inverse variance weighted, weighted median, MR-Egger regression, and MR-PRESSO. Heterogeneity was evaluated by calculating Cochran's Q value. Moreover, the presence of horizontal pleiotropy was investigated through MR-Egger regression and MR-PRESSO. Results: The IVW method indicates a causal relationship between both GD(OR 1.31,95%CI 1.08 to 1.60,P=0.005) and autoimmune hypothyroidism (OR: 1.26, 95% CI: 1.08 to 1.47, P =0.002) with MG. However, there is no association found between FT4(OR 0.88,95%CI 0.65 to 1.18,P=0.406), TPOAb(OR: 1.34, 95% CI: 0.86 to 2.07, P =0.186), TSH(OR: 0.97, 95% CI: 0.77 to 1.23, P =0.846), and MG. The reverse MR analysis reveals a causal relationship between MG and GD(OR: 1.50, 95% CI: 1.14 to 1.98, P =3.57e-3), with stable results. On the other hand, there is a significant association with autoimmune hypothyroidism(OR: 1.29, 95% CI: 1.04 to 1.59, P =0.019), but it is considered unstable due to the influence of horizontal pleiotropy (MR PRESSO Distortion Test P < 0.001). MG has a higher prevalence of TPOAb(OR: 1.84, 95% CI: 1.39 to 2.42, P =1.47e-5) positivity and may be linked to elevated TSH levels(Beta:0.08,95% CI:0.01 to 0.14,P =0.011), while there is no correlation between MG and FT4(Beta:-9.03e-3,95% CI:-0.07 to 0.05,P =0.796). Conclusion: AITD patients are more susceptible to developing MG, and MG patients also have a higher incidence of GD.


Asunto(s)
Enfermedad de Hashimoto , Hipotiroidismo , Miastenia Gravis , Tiroiditis Autoinmune , Humanos , Análisis de la Aleatorización Mendeliana , Miastenia Gravis/complicaciones , Miastenia Gravis/epidemiología , Miastenia Gravis/genética , Hipotiroidismo/complicaciones , Hipotiroidismo/epidemiología , Hipotiroidismo/genética , Tirotropina
15.
J Neurol ; 271(5): 2758-2767, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38400914

RESUMEN

BACKGROUND: Fatigue is a debilitating symptom of myasthenia gravis (MG). The impact of fatigue on MG can be assessed by Quality of Life in Neurological Disorders (Neuro-QoL) Short Form Fatigue scale. Transformation of raw Neuro-QoL fatigue scores to T-scores is a known approach for facilitating clinical interpretation of clinically meaningful and fatigue severity thresholds. METHODS: In the Phase 3, double-blind, placebo-controlled RAISE study (NCT04115293), adults with acetylcholine receptor autoantibody-positive generalised MG (MG Foundation of America Disease Class II-IV) were randomised 1:1 to daily subcutaneous zilucoplan 0.3 mg/kg or placebo for 12 weeks. Patients completing RAISE could opt to receive zilucoplan 0.3 mg/kg in an ongoing, open-label extension study, RAISE-XT (NCT04225871). In this post-hoc analysis, we evaluated the long-term effect of zilucoplan on fatigue in RAISE patients who entered RAISE-XT. We report change in Neuro-QoL Short Form Fatigue T-scores and fatigue severity levels from RAISE baseline to Week 60. RESULTS: Mean Neuro-QoL Short Form Fatigue T-scores improved from baseline to Week 12 in the zilucoplan group (n = 86) with a clinically meaningful difference versus placebo (n = 88; least squares mean difference: - 3.61 (nominal p-value = 0.0060]), and these improvements continued further to Week 60. At Week 12, more patients on zilucoplan (n = 34, 47.2%) experienced improvements in ≥ 1 fatigue severity level from baseline versus placebo (n = 23, 28.4%; p = 0.017). At Week 60, most (n = 55, 65.5%) patients had mild fatigue or none. CONCLUSION: Treatment with zilucoplan demonstrated statistical and clinically meaningful improvements in fatigue scores and severity versus placebo during RAISE, which were sustained to Week 60 in RAISE-XT.


Asunto(s)
Fatiga , Miastenia Gravis , Humanos , Miastenia Gravis/tratamiento farmacológico , Miastenia Gravis/complicaciones , Método Doble Ciego , Fatiga/etiología , Fatiga/tratamiento farmacológico , Fatiga/fisiopatología , Masculino , Femenino , Adulto , Persona de Mediana Edad , Calidad de Vida , Anciano , Resultado del Tratamiento , Índice de Severidad de la Enfermedad , Evaluación de Resultado en la Atención de Salud
16.
J Neurol ; 271(5): 2824-2839, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38421419

RESUMEN

BACKGROUND: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune-mediated neuromuscular disorder leading to muscle weakness, autonomic dysregulation and hyporeflexia. Psychosocial well-being is affected. Previously, we assessed burden of disease for Myasthenia gravis (MG). Here, we aim to elucidate burden of disease by comparing health-related quality of life (HRQoL) of patients with LEMS to the general population (genP) as well as MG patients. METHODS: A questionnaire-based survey included sociodemographic and clinical data along with standardized questionnaires, e.g. the Short Form Health (SF-36). HRQoL was evaluated through matched-pairs analyses. Participants from a general health survey served as control group. RESULTS: 46 LEMS patients matched by age and gender were compared to 92 controls from the genP and a matched cohort of 92 MG patients. LEMS participants showed lower levels of physical functioning (SF-36 mean 34.2 SD 28.6) compared to genP (mean 78.6 SD 21.1) and MG patients (mean 61.3 SD 31.8). LEMS patients showed lower mental health sub-scores compared to genP (SF-36 mean 62.7 SD 20.2, vs. 75.7 SD 15.1) and MG patients (SF-36 mean 62.7 SD 20.2, vs. 66.0 SD 18.). Depression, anxiety and fatigue were prevalent. Female gender, low income, lower activities of daily living, symptoms of depression, anxiety and fatigue were associated with a lower HRQoL in LEMS. DISCUSSION: HRQoL is lower in patients with LEMS compared to genP and MG in a matched pair-analysis. The burden of LEMS includes economic and social aspects as well as emotional well-being. TRIAL REGISTRATION INFORMATION: drks.de: DRKS00024527, submitted: February 02, 2021, https://drks.de/search/en/trial/DRKS00024527 .


Asunto(s)
Costo de Enfermedad , Síndrome Miasténico de Lambert-Eaton , Calidad de Vida , Humanos , Síndrome Miasténico de Lambert-Eaton/fisiopatología , Síndrome Miasténico de Lambert-Eaton/complicaciones , Síndrome Miasténico de Lambert-Eaton/epidemiología , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Miastenia Gravis/complicaciones , Miastenia Gravis/psicología , Miastenia Gravis/fisiopatología , Miastenia Gravis/epidemiología
17.
Sci Rep ; 14(1): 2674, 2024 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-38302676

RESUMEN

B-cell subsets in peripheral blood (PB) and tumor microenvironment (TME) were evaluated to determine myasthenia gravis (MG) severity in patients with thymoma-associated MG (TMG) and the distribution of B cells in type B TMG. The distribution of mature B cells, including Bm1-Bm5, CD19+ and CD20+ B cells and non-switched (NSMBCs) and switched (SMBCs) memory B cells, were determined in 79 patients with thymoma or TMG. Quantitative relationships between the T and TMG groups and the TMG-low and TMG-high subgroups were determined. NSMBCs and SMBCs were compared in TME and PB. Type B thymoma was more likely to develop into MG, with types B2 and B3 being especially associated with MG worsening. The percentage of CD19+ B cells in PB gradually increased, whereas the percentage of CD20+ B cells and the CD19/CD20 ratio were not altered. The (Bm2 + Bm2')/(eBm5 + Bm5) index was significantly higher in the TMG-high than in thymoma group. The difference between SMBC/CD19+ and NSMBC/CD19+ B cell ratios was significantly lower in the thymoma than TMG group. NSMBCs assembled around tertiary lymphoid tissue in thymomas of patients with TMG. Few NSMBCs were observed in patients with thymoma alone, with these cells being diffusely distributed. MG severity in patients with TMG can be determined by measuring CD19+ B cells and Bm1-Bm5 in PB. The CD19/CD20 ratio is a marker of disease severity in TMG patients. Differences between NSMBCs and SMBCs in PB and TME of thymomas can synergistically determine MG severity in patients with TMG.


Asunto(s)
Subgrupos de Linfocitos B , Miastenia Gravis , Timoma , Neoplasias del Timo , Humanos , Timoma/complicaciones , Timoma/patología , Subgrupos de Linfocitos B/patología , Neoplasias del Timo/complicaciones , Neoplasias del Timo/patología , Linfocitos B/patología , Miastenia Gravis/complicaciones , Microambiente Tumoral
18.
Neurology ; 102(6): e209260, 2024 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-38377456

RESUMEN

Myasthenia gravis (MG) has been described as a great mimicker of other neurologic and ocular motility disorders, including centrally mediated ophthalmoplegia. For example, ocular myasthenia gravis (ocular MG) may cause impaired binocular visual acuity for near vision due to reduced accommodation or for distance vision due to accommodative excess. Notably, accommodative excess due to ocular MG is rare, but may occur with exotropia, with or without diplopia. We report 2 cases of ocular MG: First, a 32-year-old man with exotropia, bilateral hypometric and slowed adducting saccades with dissociated abducting nystagmus, miosis, and decreased distance vision in his right eye; second, a 45-year-old man with similar ocular motor deficits, miosis, and myopia. Both patients showed ocular motor deficits which appeared to localize to the pons but were instead due to ocular MG. Ocular MG should be considered in patients who present with reduced visual acuities due to any disruption in accommodation. Any ocular motor deficit, even if appearing to be centrally mediated or occurring without ptosis, may be caused by ocular MG.


Asunto(s)
Exotropía , Miastenia Gravis , Miopía , Nistagmo Patológico , Trastornos de la Motilidad Ocular , Masculino , Humanos , Adulto , Persona de Mediana Edad , Exotropía/complicaciones , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Ojo , Trastornos de la Motilidad Ocular/etiología , Trastornos de la Motilidad Ocular/complicaciones , Nistagmo Patológico/complicaciones , Miopía/complicaciones , Miosis
19.
Niger J Clin Pract ; 27(1): 148-152, 2024 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-38317049

RESUMEN

ABSTRACT: Myasthenia gravis (MG) is an antibody-mediated autoimmune disease with the cardinal feature being exertional voluntary skeletal muscle weakness and fatigability. It can be an isolated finding or in association with other autoimmune conditions such as Hashimoto's thyroiditis, Graves' disease, systemic lupus erythematosus (SLE), or rheumatoid arthritis. Thymectomy is recommended for most patients with MG whose symptoms begin before the age of 60 years. Patients with thymoma or thymic hyperplasia do respond to thymectomy compared to those without thymoma or enlarged thymus. Those with enlarged goiter would benefit from thyroidectomy. The management of these patients requires a multidisciplinary approach as performed in a low-resource setting. We are reporting the case of a 24-year-old who presented with MG with toxic goiter and had good control on medication. A computed tomography scan of the chest showed a superior mediastinal mass and a soft tissue scan of the neck was done which showed a diffusely enlarged thyroid gland. She subsequently had thymectomy and subtotal thyroidectomy with a satisfactory outcome. We highlight this case to show that MG with thymoma and goiter could coexist. Reports of such findings are infrequently reported in our environment.


Asunto(s)
Bocio , Miastenia Gravis , Timoma , Neoplasias del Timo , Femenino , Humanos , Persona de Mediana Edad , Adulto Joven , Adulto , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico , Timectomía/efectos adversos , Bocio/complicaciones , Bocio/cirugía
20.
Clin Radiol ; 79(4): e500-e510, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38242804

RESUMEN

AIM: To explore the value of a radiomics model based on enhanced computed tomography (CT) in differentiating anterior mediastinal lymphoma (AML) and thymoma without myasthenia gravis (MG) and calcification. MATERIALS AND METHODS: The present study analysed patients who were diagnosed histologically with AML and thymoma in three independent institutions. All pre-treatment patients underwent enhanced CT. In the training group of patients from institutions 1 (the First Affiliated Hospital of Kunming Medical University) and 3 (the Yunnan Cancer Hospital), two radiologists independently analysed the enhanced CT images and performed manual segmentation of each tumour. Radiomics features were screened using interobserver interclass coefficient (ICC) analysis, feature correlation analysis, and L1 regularisation. The discriminative efficacy of the logistic regression model was evaluated using receiver operating characteristic (ROC) analysis. Validation group of patients from institution 2 (the Second Affiliated Hospital of Zhejiang University School of Medicine) was used to validate the proposed models. RESULTS: A total of 114 patients were enrolled in this study and 1,743 radiomics features were extracted from the enhanced CT images. After feature screening, the remaining 37 robust radiomics features were used to construct the model. In the training group, the AUC of the model was 0.987 (95% confidence interval [CI]: 0.976-0.999), the sensitivity, specificity, and accuracy were 0.912, 0.946, and 0.924, respectively. In the validation group, the AUC of the model was 0.798 (95% CI: 0.683-0.913), the sensitivity, specificity, and accuracy were 0.760, 0.700, and 0.743, respectively. CONCLUSION: The radiomics model created provided effective information to assist in the selection of clinical strategies, thus reducing unnecessary procedures in patients with AML and guiding direct surgery in patients with thymoma to avoid biopsy.


Asunto(s)
Calcinosis , Leucemia Mieloide Aguda , Linfoma , Miastenia Gravis , Timoma , Neoplasias del Timo , Humanos , Timoma/diagnóstico por imagen , Mediastino , Radiómica , China , Neoplasias del Timo/diagnóstico por imagen , Linfoma/diagnóstico por imagen , Miastenia Gravis/complicaciones , Miastenia Gravis/diagnóstico por imagen , Estudios Retrospectivos
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