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.

Hemorragia de Duret durante la perfusión de tratamiento fibrinolítico / Duret haemorrhage during intravenous administration of thrombolytic therapy

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The neurologist's approach to cerebral infarct and transient ischaemic attack in patients receiving anticoagulant treatment for non-valvular atrial fibrillation: ANITA-FA study.

BACKGROUND AND PURPOSE: The aim of this study was to describe the clinical and epidemiological characteristics of acute ischaemic stroke (AIS) in patients with atrial fibrillation (AF) previously treated with oral anticoagulants (OACs) according to the type of OAC prescribed. Also, to analyze the outcomes of the patients and the therapeutic approach adopted by the neurologist in the acute phase and for secondary prevention. METHODS: We performed a multicenter, observational study based on prospective registries. We included patients with AF treated with OACs admitted for AIS over a 1-year period. Detailed clinical data and functional outcome at 3 months (modified Rankin Scale score) were collected. Patients were divided into two groups according to their pre-AIS anticoagulant therapy: vitamin K antagonists (AIS-VKA) and direct-acting OACs (AIS-DOAC). RESULTS: We recruited 1240 patients (80.4% AIS-VKA and 19.6% AIS-DOAC). In the AIS-DOAC group, transient ischaemic attack was more frequent (18.1% vs. 10.8%; P = 0.001), symptomatic hemorrhagic transformation was less frequent (1.6% vs. 4.6%; P = 0.035) and hospital stay was shorter (median 6 vs. 7 days; P = 0.03). Intravenous thrombolysis was more commonly used in AIS-VKA (9.2% vs. 1.6%; P < 0.001). There were no differences between the groups with respect to mechanical thrombectomy, mortality and modified Rankin Scale score at 3 months. At 3 months, 54% of patients required a DOAC as antithrombotic treatment for secondary prevention. CONCLUSIONS: Patients with AF treated with DOACs who experienced AIS more frequently had transient symptoms (transient ischaemic attack), less symptomatic hemorrhagic transformation and a shorter mean stay than those treated with VKAs. Most patients who had been previously anticoagulated with AIS received long-term treatment with DOACs.

Factores pronósticos y análisis de la mortalidad de las hemorragias cerebrales asociadas a anticoagulantes orales antagonistas de la vitamina K. Resultados del Estudio TAC Registry / Prognostic factors and analysis of mortality due to brain haemorrhages associated with vitamin K antagonist oral anticoagulants. Results from the TAC registry

INTRODUCCIÓN: La hemorragia intracraneal (HIC) en pacientes tratados con anticoagulantes orales antagonistas de la vitamina K (AVK) es una complicación grave y frecuentemente letal; en este trabajo estudiamos las características clínicas y los factores que se relacionan con la mortalidad en este grupo de pacientes. MÉTODOS: Realizamos un estudio observacional, multicéntrico y retrospectivo, de ámbito nacional, basado en registros prospectivos de pacientes con ictus. Se incluyó a los pacientes ingresados en servicios de Neurología durante un período de un año y que cumplieran los criterios de inclusión: pacientes mayores de 18 años con HIC que estuvieran en tratamiento con AVK y que ingresaron durante el periodo de estudio. Se analizaron las variables clínicas y radiológicas y su evolución a 3 meses. RESULTADOS: Incluimos a 235 pacientes provenientes de 21 hospitales. La mortalidad a los 90 días fue del 42,6%. En el modelo bivariante los factores asociados con defunción fueron: mediana en la puntuación de la escala NIHSS al ingreso (5 (RIQ = 9) vs. 17 (RIQ = 14) puntos, p < 0,01) y la presencia de una hemorragia hemisférica extensa (4,9% vs. 35%, p < 0,01; chi2). Las hemorragias hemisféricas extensas, además de ser las más letales, también presentaron el tiempo más corto hasta el fallecimiento (media 16,5 días; IC del 95%, 7,1-26). Realizamos un modelo de regresión logística que evidenció que solo la NIHSS basal predijo de forma independiente el fallecimiento (odds ratio = 1,13 (IC del 95%, 1,0-1,17) por cada punto en la escala). CONCLUSIÓN: La HIC en pacientes tratados con AVK conlleva una elevada mortalidad asociada principal e independientemente con la situación clínica al inicio del ictus

INTRODUCTION: Intracranial haemorrhages (ICH) represent a severe and frequently lethal complication in patients treated with vitamin K antagonists (VKA). The purpose of our study is to describe the factors and clinical features associated with mortality in these patients. METHODS: We conducted an observational, retrospective, multi-centre study based on prospective stroke registries in Spain. We included all patients admitted to neurology departments during a one-year period who met the following inclusion criteria: being 18 or older, having a diagnosis of ICH, and receiving VKA. Clinical and radiological parameters and 3-month outcomes were analysed. RESULTS: A total of 235 patients from 21 hospitals were included. Mortality rate at 90 days was 42.6%. Bivariate analysis showed a significant association between death and the following factors: median NIHSS score at admission (5 (IQR = 9) vs 17 (IQR = 14) points, P < .01) and presence of an extensive hemispheric haemorrhage (4.9% vs 35%, P < .01; chi2). Extensive hemispheric haemorrhages, in addition to being the most lethal type, were associated with a shorter time to death (mean of 16.5 days; 95% CI: 7.1-26). A logistic regression model showed that only baseline NIHSS scores independently predicted death (odds ratio = 1.13 (95% CI: 1.08-1.17) for each point in the scale). CONCLUSION: ICH in patients treated with VKA is associated with high mortality rates; mortality in these patients is mainly and independently associated with the clinical situation at stroke onset

Ataxia cerebelosa rápidamente progresiva asociada a anticuerpos anti-GAD / Rapidly progressing cerebellar ataxia associated with anti-GAD antibodies

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Prognostic factors and analysis of mortality due to brain haemorrhages associated with vitamin K antagonist oral anticoagulants. Results from the TAC registry. / Factores pronósticos y análisis de la mortalidad de las hemorragias cerebrales asociadas a anticoagulantes orales antagonistas de la vitamina K. Resultados del Estudio TAC Registry.

INTRODUCTION: Intracranial haemorrhages (ICH) represent a severe and frequently lethal complication in patients treated with vitamin K antagonists (VKA). The purpose of our study is to describe the factors and clinical features associated with mortality in these patients. METHODS: We conducted an observational, retrospective, multi-centre study based on prospective stroke registries in Spain. We included all patients admitted to neurology departments during a one-year period who met the following inclusion criteria: being 18 or older, having a diagnosis of ICH, and receiving VKA. Clinical and radiological parameters and 3-month outcomes were analysed. RESULTS: A total of 235 patients from 21 hospitals were included. Mortality rate at 90 days was 42.6%. Bivariate analysis showed a significant association between death and the following factors: median NIHSS score at admission (5 [IQR = 9] vs 17 [IQR = 14] points, P<.01) and presence of an extensive hemispheric haemorrhage (4.9% vs 35%, P < .01; χ2). Extensive hemispheric haemorrhages, in addition to being the most lethal type, were associated with a shorter time to death (mean of 16.5 days; 95% CI: 7.1-26). A logistic regression model showed that only baseline NIHSS scores independently predicted death (odds ratio=1.13 [95% CI: 1.08-1.17] for each point in the scale). CONCLUSION: ICH in patients treated with VKA is associated with high mortality rates; mortality in these patients is mainly and independently associated with the clinical situation at stroke onset.

Recurrencia precoz de infarto cardioembólico tratada con éxito mediante una segunda trombectomía / Early recurrence of cardioembolic stroke successfully treated with a second thrombectomy

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The Direct Referral to Endovascular Center criteria: a proposal for pre-hospital evaluation of acute stroke in the Madrid Stroke Network.

BACKGROUND AND PURPOSE: For patients with acute ischaemic stroke due to large-vessel occlusion, it has recently been shown that mechanical thrombectomy (MT) with stent retrievers is better than medical treatment alone. However, few hospitals can provide MT 24 h/day 365 days/year, and it remains unclear whether selected patients with acute stroke should be directly transferred to the nearest MT-providing hospital to prevent treatment delays. Clinical scales such as Rapid Arterial Occlusion Evaluation (RACE) have been developed to predict large-vessel occlusion at a pre-hospital level, but their predictive value for MT is low. We propose new criteria to identify patients eligible for MT, with higher accuracy. METHODS: The Direct Referral to Endovascular Center criteria were defined based on a retrospective cohort of 317 patients admitted to a stroke center. The association of age, sex, RACE scale score and blood pressure with the likelihood of receiving MT were analyzed. Cut-off points with the highest association were thereafter evaluated in a prospective cohort of 153 patients from nine stroke units comprising the Madrid Stroke Network. RESULTS: Patients with a RACE scale score ≥ 5, systolic blood pressure <190 mmHg and age <81 years showed a significantly higher probability of undergoing MT (odds ratio, 33.38; 95% confidence interval, 12-92.9). This outcome was confirmed in the prospective cohort, with 68% sensitivity, 84% specificity, 42% positive and 94% negative predictive values for MT, ruling out 83% of hemorrhagic strokes. CONCLUSIONS: The Direct Referral to Endovascular Center criteria could be useful for identifying patients suitable for MT.

A collaborative system for endovascular treatment of acute ischaemic stroke: the Madrid Stroke Network experience.

BACKGROUND AND PURPOSE: The complexity and expense of endovascular treatment (EVT) for acute ischaemic stroke (AIS) can present difficulties in bringing this approach closer to the patients. A collaborative node was implemented involving three stroke centres (SCs) within the Madrid Stroke Network to provide round-the-clock access to EVT for AIS. METHODS: A weekly schedule was established to ensure that at least one SC was 'on-call' to provide EVT for all those with moderate to severe AIS due to large vessel occlusion, >4.5 h from symptom onset, or within this time-window but with contraindication to, or failure of, systemic thrombolysis. The time-window for treatment was 8 h for anterior circulation stroke and <24 h in posterior stroke. Outcomes measured were re-canalization rates, modified Rankin Scale (mRS) score at 3 months, mortality and symptomatic intra-cranial haemorrhage (SICH). RESULTS: Over a 2-year period (2012-2013), 303 candidate patients with AIS were considered for EVT as per protocol, and 196 (65%) received treatment. Reasons for non-treatment were significant improvement (14%), spontaneous re-canalization (26%), clinical worsening (9%) or radiological criteria of established infarction (31%). Re-canalization rate amongst treated patients was 80%. Median delay from symptom onset to re-canalization was 323 min (p25; p75 percentiles 255; 430). Mortality was 11%; independence (mRS 0-2) was 58%; SICH was 3%. CONCLUSIONS: Implementation of a collaborative network to provide EVT for AIS is feasible and effective. Results are good in terms of re-canalization rates and clinical outcomes.

[Clinical management of the new anticoagulants]. / Manejo clínico de los nuevos anticoagulantes.

The vitamin K antagonists (VKA) available for stroke prevention in patients with atrial fibrillation have many drawbacks due to their difficult clinical use and high risk of bleeding. Currently, several drugs are being developed as possible substitutes for VKA that have many advantages such as the lack of monitoring requirement and scarce pharmacologic and food interactions. The present article provides an update on the new oral anticoagulants that are in a more advanced stage of clinical research, their pharmacologic properties, advantages and disadvantages and their results in recent clinical trials.

Manejo clínico de los nuevos anticoagulantes / Clinical management of the new anticoagulants

Los antagonistas de la vitamina K (AVK) actualmente disponibles para la prevención del ictus en pacientes con fibrilación auricular tienen diversos inconvenientes, por su dificultad de manejo y riesgo de sangrado. Actualmente están en desarrollo diversos fármacos que serían posibles sustitutos de los AVK y que tienen grandes ventajas, siendo las principales la ausencia de necesidad de monitorización y las escasas interacciones farmacológicas y con los alimentos. Presentamos una revisión de los nuevos anticoagulantes orales que están en fases más avanzadas de investigación clínica, sus propiedades farmacológicas, ventajas y desventajas y los resultados en recientes ensayos clínicos (AU)

The vitamin K antagonists (VKA) available for stroke prevention in patients with atrial fibrillation have many drawbacks due to their difficult clinical use and high risk of bleeding. Currently, several drugs are being developed as possible substitutes for VKA that have many advantages such as the lack of monitoring requirement and scarce pharmacologic and food interactions. The present article provides an update on the new oral anticoagulants that are in a more advanced stage of clinical research, their pharmacologic properties, advantages and disadvantages and their results in recent clinical trials (AU)