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1.
J Clin Med ; 13(2)2024 Jan 08.
Artículo en Inglés | MEDLINE | ID: mdl-38256489

RESUMEN

Neuromyelitis optica spectrum disorder (NMOSD) is a rare immune-mediated relapsing-remitting disease of the central nervous system. The usage of rituximab, as relapse-preventive therapy, in NMOSD is common. We performed a single-center retrospective cohort study to assess the risk of relapses and severe infectious events (SIEs) in rituximab-treated NMOSD patients. This study included 24 aquaporin-4 IgG+ (AQP4+), 8 myelin-oligodendrocyte-protein IgG+ (MOG+), and 10 double-seronegative NMOSD patients. Relapses were observed in 50% of all patients during a mean treatment time of 4.0 (range: 0.5-8.25) years. The incidence risk ratio (IRR) of relapse was three times higher in MOG+ compared to AQP4+ patients (IRR: 3.0, 95% confidence interval (CI); 1.2-7.7). SIEs occurred in 40% of all patients during follow-up. AQP4+ patients conferred an increased risk of SIEs compared to MOG+ patients (IRR; 5.3, 95% CI; 1.2-24.3). Incomplete CD19+ B-lymphocyte suppression was not correlated with relapse risk (hazard ratio; 1.9, 95% CI; 0.7-5.2), and there was no correlation between IgG-levels and SIE risk (odds ratio; 2.0, 95% CI; 0.8-4.8). In conclusion, considerable risks of both relapses and SIEs were observed in NMOSD patients exposed to rituximab, which underlines the need for close clinical vigilance of disease activity and infections during treatment.

2.
Neurology ; 93(2): e181-e189, 2019 07 09.
Artículo en Inglés | MEDLINE | ID: mdl-31171648

RESUMEN

OBJECTIVE: To report the yearly incidence rate and prevalence of neuromyelitis spectrum disorder (NMOSD) in Sweden and to investigate clinical characteristics, treatment, and outcome. METHODS: We conducted a retrospective study of hospital case records of 294 individuals diagnosed with neuromyelitis optica (NMO) (G36.0 ICD-10, 341.0 ICD-9) in the Swedish National Patient Register from 1987 to end of 2013 or detected by the presence of aquaporin-4 (AQP4) immunoglobulin G (IgG) in serum during the study period. Ninety-two patients (51 NMO and 41 NMOSD) met the 2006 Wingerchuk criteria and were included in the study. Ten patients with an onset of NMO prior to 1987 and alive at the end of 2013 were included when estimating the prevalence. RESULTS: The average yearly incidence rate per 1,000,000 individuals increased significantly from 0.30 (confidence interval [CI] 0.19-0.41) between 1987 and 2006 to 0.79 (CI 0.55-1.03) between 2007 and 2013. The prevalence was 10.4 (CI 8.5-12.6) per 1,000,000 individuals at end of 2013. The median time from onset to first relapse was 1.42 years (range 0.58-3.90). The probability of relapse was 60% and 75% after 5 and 10 years after onset. More than 80% were treated with immunosuppressive drugs. Three patients died during the study period. CONCLUSION: The increased incidence rate during the study period was likely due to heightened awareness and increased access to MRI and AQP4-IgG analysis. Incidence and prevalence of NMO in Sweden correspond to other countries with a predominately Caucasian population. We found that most patients were treated with immunosuppressant drugs, presumably resulting in low mortality among the detected cases.


Asunto(s)
Neuromielitis Óptica/epidemiología , Corticoesteroides/uso terapéutico , Adulto , Azatioprina/uso terapéutico , Femenino , Humanos , Inmunosupresores/uso terapéutico , Incidencia , Masculino , Persona de Mediana Edad , Neuromielitis Óptica/tratamiento farmacológico , Prevalencia , Rituximab/uso terapéutico , Suecia/epidemiología
3.
Neuromuscul Disord ; 27(6): 565-568, 2017 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28433474

RESUMEN

Muscle fatigue associated with myasthenia gravis is caused by autoantibodies interfering with neuromuscular transmission. Immunomodulating treatment is widely used in moderate to severe myasthenia, although the use of newer biological drugs except rituximab is rare. We describe the effect of tocilizumab, a blocker of interleukin-6 signalling, in two female myasthenia patients with high titres of serum acetylcholine receptor antibodies and insufficient response to rituximab. The first patient had been treated with high dose immunoglobulins regularly for several years and the second patient had been treated both with different oral immune suppressants and immunoglobulins before testing a low dose of rituximab without significant clinical effect. Subsequent treatment with tocilizumab resulted in clinical improvement within a few months. The first patient was switched back to rituximab, which resulted in worsening until tocilizumab was restarted. Tocilizumab can be a therapeutic option in cases not responding to rituximab.


Asunto(s)
Anticuerpos Monoclonales Humanizados/uso terapéutico , Fatiga Muscular , Miastenia Gravis/tratamiento farmacológico , Rituximab/uso terapéutico , Adulto , Anciano de 80 o más Años , Anticuerpos/sangre , Femenino , Humanos , Factores Inmunológicos/uso terapéutico , Interleucina-6/antagonistas & inhibidores , Miastenia Gravis/complicaciones , Receptores Colinérgicos/inmunología , Resultado del Tratamiento , Adulto Joven
5.
Eur J Med Genet ; 55(6-7): 437-40, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22534424

RESUMEN

A girl presented with congenital arthrogryposis, intellectual disability and mild bone-related dysmorphism. Molecular workup including the NimbleGen Human CGH 2.1M platform revealed a 1.13 Mb de novo microdeletion on chromosome 12q13.13 of paternal origin. The deletion contains 33 genes, including AAAS, AMRH2, and RARG genes as well as the HOXC gene cluster. At least one gene, CSAD, is expressed in fetal brain. The deletion partially overlaps number of reported benign CNVs and pathogenic duplications. This case appears to represent a previously unknown microdeletion syndrome and possibly the first description in humans of a disease phenotype associated with copy loss of HOXC genes.


Asunto(s)
Anomalías Múltiples/diagnóstico , Artrogriposis/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Par 12/genética , Discapacidad Intelectual/diagnóstico , Anomalías Múltiples/genética , Artrogriposis/genética , Niño , Hibridación Genómica Comparativa , Cara/anomalías , Femenino , Dosificación de Gen , Estudios de Asociación Genética , Humanos , Discapacidad Intelectual/genética
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