Autoantibody screening in Guillain-Barré syndrome.

BACKGROUND: Guillain-Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substantial proportion of GBS patients. The objective of this study is to screen for autoantibodies targeting peripheral nerve components in Guillain-Barré syndrome. METHODS: Autoantibody screening was performed in serum samples from all GBS patients included in the International GBS Outcome study by 11 different Spanish centres. The screening included testing for anti-ganglioside antibodies, anti-nodo/paranodal antibodies, immunocytochemistry on neuroblastoma-derived human motor neurons and murine dorsal root ganglia (DRG) neurons, and immunohistochemistry on monkey peripheral nerve sections. We analysed the staining patterns of patients and controls. The prognostic value of anti-ganglioside antibodies was also analysed. RESULTS: None of the GBS patients (n = 100) reacted against the nodo/paranodal proteins tested, and 61 (61%) were positive for, at least, one anti-ganglioside antibody. GBS sera reacted strongly against DRG neurons more frequently than controls both with IgG (6% vs 0%; p = 0.03) and IgM (11% vs 2.2%; p = 0.02) immunodetection. No differences were observed in the proportion of patients reacting against neuroblastoma-derived human motor neurons. Reactivity against monkey nerve tissue was frequently detected both in patients and controls, but specific patterns were only detected in GBS patients: IgG from 13 (13%) patients reacted strongly against Schwann cells. Finally, we confirmed that IgG anti-GM1 antibodies are associated with poorer outcomes independently of other known prognostic factors. CONCLUSION: Our study confirms that (1) GBS patients display a heterogeneous repertoire of autoantibodies targeting nerve cells and structures; (2) gangliosides are the most frequent antigens in GBS patients and have a prognostic value; (3) further antigen-discovery experiments may elucidate other potential antigens in GBS.

Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.

OBJECTIVE: To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS). METHODS: We measured NfL in serum (98 samples) and cerebrospinal fluid (CSF) (24 samples) of patients with GBS prospectively included in the International GBS Outcome Study (IGOS) in Spain using single-molecule array (SiMoA) and compared them with 53 healthy controls (HCs). We performed multivariable regression to analyse the association between sNfL levels and functional outcome at 1 year. RESULTS: Patients with GBS had higher NfL levels than HC in serum (55.49 pg/mL vs 9.83 pg/mL, p<0.0001) and CSF (1308.5 pg/mL vs 440.24 pg/mL, p=0.034). Patients with preceding diarrhoea had higher sNfL than patients with respiratory symptoms or no preceding infection (134.90 pg/mL vs 47.86 pg/mL vs 38.02 pg/mL, p=0.016). sNfL levels correlated with Guillain-Barré Syndrome Disability Score and Inflammatory Rasch-built Overall Disability Scale (I-RODS) at every timepoint. Patients with pure motor variant and Miller Fisher syndrome showed higher sNfL levels than patients with sensorimotor GBS (162.18 pg/mL vs 95.50 pg/mL vs 38.02 pg/mL, p=0.025). Patients with acute motor axonal neuropathy cute motor axonal neuropathy had higher sNfL levels than other variants (190.55 pg/mL vs 46.79 pg/mL, p=0.013). sNfL returned to normal levels at 1 year. High baseline sNfL levels were associated with inability to run (OR=1.65, 95% CI 1.14 to 2.40, p=0.009) and lower I-RODS (ß -2.60, 95% CI -4.66 to -0.54, p=0.014) at 1 year. Cut-off points predicting clinically relevant outcomes at 1 year with high specificity were calculated: inability to walk independently (>319 pg/mL), inability to run (>248 pg/mL) and ability to run (<34 pg/mL). CONCLUSION: Baseline sNfL levels are increased in patients with GBS, are associated with disease severity and axonal variants and have an independent prognostic value in patients with GBS.

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

Antecedentes y objetivos: La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1. Material y métodos: Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura. Recomendaciones: Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares. Conclusión: La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares

Background and objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. Material and methods: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. Recommendations: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. Conclusion: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Neuroinvasion of influenza A/H3N2: a fatal case in an immunocompetent adult.

Acute necrotizing encephalopathy (ANE) is a severe neurologic complication caused by influenza virus that has been infrequently reported in adult population. The diagnosis is made on epidemiological, clinical, and neuroimaging suspicion, but is rarely confirmed by microbiological findings in samples from the central nervous system (CNS), thus making it difficult to define the mechanism of pathogenesis of influenza-associated encephalitis/encephalopathies (IAE). We report a microbiologically documented case of ANE caused by influenza A/H3N2, in a previously healthy adult patient infected during a flu epidemic in Asturias (Spain). Direct viral invasion of the CNS was demonstrated with the isolation of the virus in a brain biopsy.

Conocimientos del profesorado de Educación Primaria sobre las medidas de actuación en una crisis epiléptica / Knowledge of Primary Education teachers about the procedure when facing an epileptic seizure

OBJETIVO: analizar los conocimientos y las actitudes respecto a la epilepsia infantil del profesorado de Educación Primaria de la ciudad de Gijón; así como valorar si estos varían al tener alumnado o familiares con dicha patología o al haber presenciado una crisis previamente. MÉTODO: estudio descriptivo transversal realizado en 2016 en colegios de Educación Primaria de Gijón (Asturias). Se localizaron los centros mediante fuentes documentales oficialesy se contactó con ellos mediante correo electrónico. En aquellos que aceptaron participar se administró al profesorado un cuestionario elaborado ad hoc donde se incluyeron variables individuales: edad, tenencia de alumnado o familiar con epilepsia, experiencia previa de crisis epiléptica, conocimientos autoreferidos, actitud prevista frente a la crisis y deseo de conocimiento. Se realizaron índices de estadística descriptiva y análisis bivariantes mediante la prueba de correlación de Pearson y Chi cuadrado. RESULTADOS: el 92,4% del profesorado indicó no tener conocimientos suficientespara actuar en una crisis epiléptica. No se encontraron diferencias estadísticamente significativas entre quienes habían tenido o no alumnado o familiares con epilepsia o hubiesen presenciado o no previamente una crisis. El 91,4% se percibía como mal o muy mal preparado para ello. El 5,1% de los encuestados administraría medicación de rescate a un alumno que presente una crisis epiléptica. El 98% deseaba recibir más formación sobre la epilepsia. CONCLUSIONES: el profesorado de Educación Primaria de los colegios de Gijón refirió un escaso conocimiento para hacer frente a una crisis epiléptica; sin embargo, manifestaron también un deseo de mejora

OBJECTIVES: to analyze the knowledge and attitudes regarding childhood epilepsy by the Primary Education teachers from the city of Gijón; as well as to assess if these vary when they have students or relatives with said condition, or they have been present previously at a seizure. METHOD: a descriptive cross-sectional study conducted in 2016 in Primary Education schools Gijón (Asturias). The centers were located through officialdocumentary sources, and they were contacted through email. In those centers which accepted to participate, teachers were asked an ad-hoc questionnaire including individual variables: age, having students or relatives with epilepsy, previous experience of an epileptic seizure; self-reported knowledge; foreseen attitude when faced with the seizure, and willingness to learn more. Descriptive statistical indexes and bivariate analyses were conducted, through Pearson's correlation and Chi square test. RESULTS: out of all the teachers, 92.4% stated that they did not have enough knowledge for acting in an epileptic seizure. No statistically significant difference was found between those who had students or relatives with epilepsy or had been present previously in a seizure, and those who had not. The perception by 91.4% of teachers was that they were poorly or very poorly prepared for this; 5.1% of the participants would administer rescue medication to a student suffering an epileptic seizure, and 98% of them wanted to receive more training about epilepsy. CONCLUSIONS: Primary Education teachers from Gijón schools reported they had limited knowledge to face an epileptic seizure; however, they also stated that they were willing to improve

Encefalitis límbica: una entidad hasta ahora poco conocida / Limbic encephalitis: a poorly known disease

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