[Pseudobulbar affect in stroke patients in Argentina]. / Síndrome pseudobulbar en pacientes con accidente cerebrovascular en Argentina.

BACKGROUND: Pseudobulbar affect is defined by involuntary or exaggerated episodes of laughter or crying, subsequent to a specific disease. After-stroke pseudobulbar affect is reported in 11%-34% of patients. In our population is underdiagnosed. Our objective was to determine its frequency in a group of stroke patients. PATIENTS AND METHODS: Prospective observational study from June/2017 to June/2018. Two populations were evaluated: chronic stroke (Group A) and acute stroke (Group B). Patients with severe psychiatric illness, cognitive impairment and/or aphasia were excluded. PLACS ("pathological laughing and crying scale") and CNS-LS ("lability scale for pseudobulbar affect") scales were performed. Pseudobulbar affect was defined with diagnostic criteria plus both positive scales. RESULTS: Fifty patients were evaluated. Sixty-eight percent were men. Mean age: 65±12 years. Group A: 19 cases and group B: 31 cases. Positive PLACS: 21% group A and 29% group B. Positive CNS-LS: 58% group A and 26% group B. Both positive scales in 8 patients (2 in group A and 6 in group B). Three of them had associated depression. CONCLUSIONS: Pseudobulbar affect should be screened after stroke. Post-stroke depression is frequent and differential diagnose with emotional lability attributable to pseudobulbar affect must be ruled out. The administration of a single scale would not be sufficient for diagnostic guidance.

[Recommendations For The Management Of Spontaneous Intracerebral Hemorrhage During Hospitalization]. / Recomendaciones en el Abordaje del Hematoma Intracerebral Espontáneo Durante la Internación.

Stroke is the leading cause of neurological disability in people over 40 years of age and the fourth leading cause of death in Argentina. In the last ten years, the indexed publications related to the treatment of ischemic stroke were more numerous than those of hemorrhagic stroke. The objective of this material is to provide local and updated recommendations for the management of patients with spontaneous intracerebral hemorrhage during hospitalization. For the writing of this manuscript, diferent specialists were convened to form working groups. Ten central topics expressed as epidemiology, initial care, imaging, blood pressure treatment, reversal of antithrombotics, indication for surgery, seizure prophylaxis, prognosis, prevention of complications and resumption of antithrombotics were raised. For each topic, the most frequent questions of daily practice were raised through PICO questions. After a systematic review of the literature, recommendations were generated, evaluated using the GRADE system and agreed between authors and patients.

El accidente cerebrovascular (ACV) constituye la principal causa de discapacidad de origen neurológico en los adultos mayores a 40 años y la cuarta causa de muerte en Argentina. En los últimos diez años las publicaciones indexadas relacionadas al tratamiento del ACV isquémico fueron más numerosas que las de ACV hemorrágico. El objetivo de este material es proporcionar recomendaciones locales y actualizadas del abordaje de pacientes con hematoma intraparenquimatoso espontáneo durante la internación. Para la redacción de este manuscrito se convocó a especialistas en esta enfermedad que conformaron grupos de trabajo. Se plantearon 10 tópicos centrales expresados como epidemiologia, atención inicial, imágenes, tratamiento de la presión arterial, reversión de antitrombóticos, indicación de cirugía, profilaxis anticonvulsivante, pronóstico, prevención de complicaciones y reinicio de antitrombóticos. De cada tópico se plantearon mediante preguntas PICO los interrogantes más frecuentes de la práctica diaria. Luego de una revisión sistemática de la literatura, se generaron recomendaciones evaluadas mediante sistema GRADE y consensuadas entre autores y pacientes.

[Consensus on acute ischemic stroke]. / Consenso sobre accidente cerebrovascular isquémico agudo.

Stroke is the third cause of death and the first cause of disability in Argentina. Ischemic events constitute 80% of cases. It requires the implementation of systematized protocols that allow reducing the time of care, morbidity and mortality. Specialists from nine medical societies related to the care of patients with cerebrovascular disease participated in the consensus. A separate agenda was agreed upon in chapters and for the writing of them, work groups were formed with members of different medical specialties. The level of recommendation was discussed and agreed upon for each topic based on the best clinical evidence available for each of them. An adaptation to the local scope of the recommendations was made when it was considered necessary.The American Heart Association system was used to draft the recommendations and their level of evidence. The correction and editing were done by five external reviewers, who did not participate in the writing and with extensive experience in vascular pathology. Once the preliminary document was finalized, a general meeting was held with all the members of the working groups and the reviewers to reach final recommendations. The consensus covers the management of ischemic stroke in the pre-hospital phase, initial evaluation in the emergency center, recanalization therapies (thrombolysis and/ or mechanical thrombectomy), decompressive craniectomy, neuroimaging and clinical care in the hospital.

El accidente cerebrovascular es la tercera causa de muerte y la primera de discapacidad en la Argentina. Los eventos isquémicos constituyen el 80% de los casos. Los accidentes vasculares cerebrales requieren la implementación de protocolos sistematizados que permitan reducir los tiempos en la atención, la morbilidad y mortalidad. En el consenso participaron especialistas de nueve sociedades médicas relacionadas con la atención de pacientes con enfermedad cerebrovascular. Se consensuó un temario separado en capítulos y para la redacción de los mismos se conformaron grupos de trabajo con miembros de diferentes especialidades médicas. Se discutió y acordó para cada tema el nivel de recomendación en base a la mejor evidencia clínica disponible para cada tópico. Se realizó una adaptación al ámbito local de las recomendaciones cuando se consideró necesario. El sistema de la American Heart Association se utilizó para redactar las recomendaciones y su grado de evidencia. La corrección y edición fue realizada por cinco revisores externos, que no participaron en la redacción y con amplia experiencia en enfermedad vascular. Finalizado el documento preliminar, se organizó una reunión general con todos los integrantes de los grupos de trabajo y los revisores para redactar las recomendaciones definitivas. El consenso abarca la atención del paciente con accidente cerebrovascular isquémico en la fase pre-hospitalaria, evaluación inicial en la central de emergencias, terapias de recanalización (trombolisis y/o trombectomía mecánica), craniectomía descompresiva, neuroimágenes y cuidados clínicos en la internación.

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.

Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissencephaly, periventricular heterotopia and subcortical band heterotopia from Argentina. We performed Sanger and Next Generation Sequencing (NGS) of DCX, FLNA and ARX and searched for copy number variations by MLPA in PAFAH1B1, DCX, POMT1, and POMGNT1. Additionally, somatic mosaicism at 5% or higher was investigated by means of targeted high coverage NGS of DCX, ARX, and PAFAH1B1. Our approach had a diagnostic yield of 36%. Pathogenic or likely pathogenic variants were identified in 14 patients, including 10 germline (five novel) and 4 somatic mutations in FLNA, DCX, ARX and PAFAH1B1 genes. This study represents the largest series of patients comprehensively characterized in our population. Our findings reinforce the importance of somatic mutations in the pathophysiology and diagnosis of neuronal migration disorders and contribute to expand their phenotype-genotype correlations.

Recomendaciones en el abordaje del hematoma intracerebral espontáneo durante la internación / Recommendations for the management of spontaneous intracerebral hemorrhage during hospitalization

Resumen El accidente cerebrovascular (ACV) constituye la principal causa de discapacidad de origen neuro- lógico en los adultos mayores a 40 años y la cuarta causa de muerte en Argentina. En los últimos diez años las publicaciones indexadas relacionadas al tratamiento del ACV isquémico fueron más numerosas que las de ACV hemorrágico. El objetivo de este material es proporcionar recomendaciones locales y actualiza- das del abordaje de pacientes con hematoma intraparenquimatoso espontáneo durante la internación. Para la redacción de este manuscrito se convocó a especialistas en esta enfermedad que conformaron grupos de trabajo. Se plantearon 10 tópicos centrales expresados como epidemiologia, atención inicial, imágenes, tratamiento de la presión arterial, reversión de antitrombóticos, indicación de cirugía, profilaxis anticonvulsivante, pronóstico, prevención de complicaciones y reinicio de antitrombóticos. De cada tópico se plantearon mediante preguntas PICO los interrogantes más frecuentes de la práctica diaria. Luego de una revisión sistemática de la literatura, se generaron recomendaciones evaluadas mediante sistema GRADE y consensuadas entre autores y pacientes.

Abstract Stroke is the leading cause of neurological disability in people over 40 years of age and the fourth leading cause of death in Argentina. In the last ten years, the indexed publications related to the treatment of ischemic stroke were more numerous than those of hemorrhagic stroke. The objective of this material is to provide local and updated recommendations for the management of patients with spontaneous intracere- bral hemorrhage during hospitalization. For the writing of this manuscript, diferent specialists were convened to form working groups. Ten central topics expressed as epidemiology, initial care, imaging, blood pressure treatment, reversal of antithrombotics, indication for surgery, seizure prophylaxis, prognosis, prevention of complications and resumption of antithrombotics were raised. For each topic, the most frequent questions of daily practice were raised through PICO questions. After a systematic review of the literature, recommendations were generated, evaluated using the GRADE system and agreed between authors and patients.

Consenso sobre accidente cerebrovascular isquémico agudo / Consensus on acute ischemic stroke

El accidente cerebrovascular es la tercera causa de muerte y la primera de discapacidad en la Argentina. Los eventos isquémicos constituyen el 80% de los casos. Los accidentes vasculares cerebrales requieren la implementación de protocolos sistematizados que permitan reducir los tiempos en la atención, la morbilidad y mortalidad. En el consenso participaron especialistas de nueve sociedades médicas relacionadas con la atención de pacientes con enfermedad cerebrovascular. Se consensuó un temario separado en capítulos y para la redacción de los mismos se conformaron grupos de trabajo con miembros de diferentes especialidades médicas. Se discutió y acordó para cada tema el nivel de recomendación en base a la mejor evidencia clínica disponible para cada tópico. Se realizó una adaptación al ámbito local de las recomendaciones cuando se consideró necesario. El sistema de la American Heart Association se utilizó para redactar las recomendaciones y su grado de evidencia. La corrección y edición fue realizada por cinco revisores externos, que no participaron en la redacción y con amplia experiencia en enfermedad vascular. Finalizado el documento preliminar, se organizó una reunión general con todos los integrantes de los grupos de trabajo y los revisores para redactar las recomendaciones definitivas. El consenso abarca la atención del paciente con accidente cerebrovascular isquémico en la fase pre-hospitalaria, evaluación inicial en la central de emergencias, terapias de recanalización (trombolisis y/o trombectomía mecánica), craniectomía descompresiva, neuroimágenes y cuidados clínicos en la internación.

Stroke is the third cause of death and the first cause of disability in Argentina. Ischemic events constitute 80% of cases. It requires the implementation of systematized protocols that allow reducing the time of care, morbidity and mortality. Specialists from nine medical societies related to the care of patients with cerebrovascular disease participated in the consensus. A separate agenda was agreed upon in chapters and for the writing of them, work groups were formed with members of different medical specialties. The level of recommendation was discussed and agreed upon for each topic based on the best clinical evidence available for each of them. An adaptation to the local scope of the recommendations was made when it was considered necessary.The American Heart Association system was used to draft the recommendations and their level of evidence. The correction and editing were done by five external reviewers, who did not participate in the writing and with extensive experience in vascular pathology. Once the preliminary document was finalized, a general meeting was held with all the members of the working groups and the reviewers to reach final recommendations. The consensus covers the management of ischemic stroke in the pre-hospital phase, initial evaluation in the emergency center, recanalization therapies (thrombolysis and/ or mechanical thrombectomy), decompressive craniectomy, neuroimaging and clinical care in the hospital.