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

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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.

Impacto de un centro terciario de ictus en la atención de pacientes con ictus isquémico agudo por disección de arterias cervicales / Impact of a comprehensive stroke centre on the care of patients with acute ischaemic stroke due to cervical artery dissection

Introducción: La disección de arterias cervicales (DAC) es la causa del 2-3% de ictus isquémicos y del 10-25% en pacientes jóvenes. Nuestro objetivo es evaluar si la implementación de un centro terciario de ictus (CTI) facilita el diagnóstico y modifica el pronóstico de los pacientes con ictus agudo por DAC. Pacientes y métodos: Estudio retrospectivo de un registro de pacientes consecutivos con ictus agudo por DAC. Se clasificaron según el periodo de atención: pre-CTI (octubre 2004-marzo 2008, 42 meses) o post-CTI (abril 2008-junio 2012, 51 meses). Se compararon las características basales, el método diagnóstico, el tratamiento y la evolución de estos pacientes entre ambos periodos. Resultados: Se diagnosticó a 9 pacientes con DAC en el periodo pre-CTI y 26 en el post-CTI, representando el 0,8 y el 2,1% de los ictus isquémicos atendidos en cada periodo. El diagnóstico de DAC se realizó en las primeras 24 h en el 42,3% de pacientes en el periodo post-CTI frente al 0% en el pre-CTI, gracias al uso de la arteriografía cerebral urgente como prueba diagnóstica en el 46,2% de los casos en el segundo periodo frente al 0% en el primero. La gravedad del ictus (mediana puntuación escala NIHSS 11 vs. 3, p = 0,014) y el tiempo hasta la atención neurológica (265 minutos vs. 148, p = 0,056) fueron mayores en la fase post-CTI. Se realizó tratamiento endovascular en el 34,3%, todos en el periodo post-CTI. El pronóstico funcional fue comparable en ambos periodos. Conclusiones: La implementación de un CTI incrementa la frecuencia en el diagnóstico de DAC y aumenta las opciones terapéuticas en la fase aguda del ictus en estos pacientes

Introduction: Cervical artery dissection (CAD) is the cause of 2% to 3% of ischaemic strokes and 10% to 25% of the ischaemic strokes in young people. Our objective is to evaluate whether implementation of a comprehensive stroke centre (CSC) improves the diagnosis and modifies the prognosis of patients with acute stroke due to CAD. Patients and methods: Retrospective study of a registry of consecutive patients with acute stroke due to CAD. They were classified according to the period of care at our centre: pre-CSC (October 2004-March 2008, 42 months) or post-CSC (April 2008-June 2012, 51 months). We compared baseline characteristics, methods of diagnosis, treatment and outcome of these patients in both periods. Results: Nine patients were diagnosed with CAD in pre-CSC and 26 in post-CSC, representing 0.8% and 2.1% of all ischaemic strokes treated in each period, respectively. The diagnosis of CAD was made within the first 24 hours in 42.3% of the patients in post-CSC versus 0% in pre-CSC, by using urgent cerebral angiography as a diagnostic test in 46.2% of cases in the second period compared to 0% in the first. Both severity of stroke (median NIHSS score 11 vs. 3, P = .014) and time to neurological care (265 min vs 148,P = .056) were higher in the post-CSC period. Endovascular treatment was performed in 34.3%, and all treatments were post-CSC. The functional outcome was comparable for both periods. Conclusions: Implementation of a CSC increases the frequency of the diagnosis of CAD, as well as the treatment options for these patients in the acute phase of stroke

Impact of a comprehensive stroke centre on the care of patients with acute ischaemic stroke due to cervical artery dissection.

INTRODUCTION: Cervical artery dissection (CAD) is the cause of 2% to 3% of ischaemic strokes and 10% to 25% of the ischaemic strokes in young people. Our objective is to evaluate whether implementation of a comprehensive stroke centre (CSC) improves the diagnosis and modifies the prognosis of patients with acute stroke due to CAD. PATIENTS AND METHODS: Retrospective study of a registry of consecutive patients with acute stroke due to CAD. They were classified according to the period of care at our centre: pre-CSC (October 2004-March 2008, 42 months) or post-CSC (April 2008-June 2012, 51 months). We compared baseline characteristics, methods of diagnosis, treatment and outcome of these patients in both periods. RESULTS: Nine patients were diagnosed with CAD in pre-CSC and 26 in post-CSC, representing 0.8% and 2.1% of all ischaemic strokes treated in each period, respectively. The diagnosis of CAD was made within the first 24 hours in 42.3% of the patients in post-CSC versus 0% in pre-CSC, by using urgent cerebral angiography as a diagnostic test in 46.2% of cases in the second period compared to 0% in the first. Both severity of stroke (median NIHSS score 11 vs. 3, P=.014) and time to neurological care (265 min vs 148, P=.056) were higher in the post-CSC period. Endovascular treatment was performed in 34.3%, and all treatments were post-CSC. The functional outcome was comparable for both periods. CONCLUSIONS: Implementation of a CSC increases the frequency of the diagnosis of CAD, as well as the treatment options for these patients in the acute phase of stroke.

Safety and effectiveness of endovascular treatment of stroke with unknown time of onset.

BACKGROUND: Currently, treatment options for patients with strokes with unknown time of onset (UKO) remain limited. With the advance of neuroimaging and endovascular treatment (EVT), selected patients might have a chance of a therapeutic option. We sought to compare clinical outcome after EVT in patients with known time of stroke onset (KO) and in those with UKO. METHODS: We prospectively registered consecutive patients with acute large artery occlusion of the anterior territory who underwent EVT. Multimodal MR or Alberta Stroke Program early CT score (ASPECTS) and transcranial color-coded Duplex sonography were used to select patients for EVT. Recanalization, periprocedural complications, intracranial hemorrhage (ICH) and outcome were recorded. Symptomatic ICH (sICH) was defined as a worsening of ≥4 points in the National Institutes of Health Stroke Scale (NIHSS) score within 36 h in any bleeding. Favorable outcome was defined as a modified Rankin score ≤2 at 3 months. RESULTS: A total of 141 patients were studied, 109 with KO and 32 with UKO. Mean age was 66.5 versus 64.7 years (p = 0.005) and median baseline NIHSS was 18 versus 17 (p = 0.095), respectively. Prior IV tPA was more frequently administered to KO patients (62.4 vs. 9.4%, p < 0.001), whereas patient selection using multimodal MR was more frequent in patients with UKO (78.1 vs. 45.4%, p < 0.001). Median time from stroke onset or from the last time the patient was seen well to groin puncture and to recanalization was significantly longer in patients with UKO, but no differences were found in the duration of the procedure. For KO/UKO patients recanalization was seen in 77.1 vs. 65.7% (p = 0.084), sICH occurred in 10 versus 0% (p = 0.061) and favorable outcome at 3 months was achieved in 41.3 versus 50% (p = 0.382), respectively. CONCLUSIONS: Clinical outcomes in this series of EVT in ischemic stroke patients due to large anterior arterial occlusion with salvageable brain are similar for patients treated with KO and UKO. These data support a randomized study of EVT in extended or uncertain time windows..