Impacto de la pandemia de COVID-19 en la organización asistencial del ictus. Plan Ictus Madrid Pandemia COVID-19. Impacto en la asistencia del ictus. Plan Ictus Madrid / Impact of the COVID-19 pandemic on the organisation of stroke care. Madrid Stroke Care Plan

INTRODUCCIÓN: La sobrecarga asistencial y los cambios organizativos frente a la pandemia de COVID-19 podrían estar repercutiendo en la atención al ictus agudo en la Comunidad de Madrid. MÉTODOS: Encuesta estructurada en bloques: características del hospital, cambios en infraestructura y recursos, circuitos de código ictus, pruebas diagnósticas, rehabilitación y atención ambulatoria. Análisis descriptivo según el nivel de complejidad en la atención del ictus (disponibilidad o no de unidad de ictus y de trombectomía mecánica). RESULTADOS: De los 26 hospitales del SERMAS que atienden urgencias en adultos, 22 cumplimentaron la encuesta entre el 16 y 27 de abril. El 95% han cedido neurólogos para atender a pacientes afectados por la COVID-19. Se han reducido camas de neurología en el 89,4%, modificado los circuitos en urgencias para ictus en el 81%, con circuitos específicos para sospecha de infección por SARS-CoV2 en el 50%, y en el 42% de los hospitales los pacientes con ictus agudo positivos para SARS-CoV2 no ingresan en camas de neurología. Ha mejorado el acceso al tratamiento, con trombectomía mecánica las 24 h en el propio hospital en 10 hospitales, y se han reducido los traslados interhospitalarios secundarios. Se ha evitado el ingreso de pacientes con ataque isquémico transitorio o ictus leve (45%) y se han incorporado consultas telefónicas para seguimiento en el 100%. CONCLUSIONES: Los cambios organizativos de los hospitales de la Comunidad de Madrid frente a la pandemia por SARS-Co2 han modificado la dedicación de recursos humanos e infraestructuras de las unidades de neurología y los circuitos de atención del ictus, realización de pruebas diagnósticas, ingreso de los pacientes y seguimiento

INTRODUCTION: The overload of the healthcare system and the organisational changes made in response to the COVID-19 pandemic may be having an impact on acute stroke care in the Region of Madrid. METHODS: We conducted a survey with sections addressing hospital characteristics, changes in infrastructure and resources, code stroke clinical pathways, diagnostic testing, rehabilitation, and outpatient care. We performed a descriptive analysis of results according to the level of complexity of stroke care (availability of stroke units and mechanical thrombectomy). RESULTS: The survey was completed by 22 of the 26 hospitals in the Madrid Regional Health System that attend adult emergencies, between 16 and 27 April 2020. Ninety-five percent of hospitals had reallocated neurologists to care for patients with COVID-19. The numbers of neurology ward beds were reduced in 89.4% of hospitals; emergency department stroke care pathways were modified in 81%, with specific pathways for suspected SARS-CoV2 infection established in 50% of hospitals; and SARS-CoV2-positive patients with acute stroke were not admitted to neurology wards in 42%. Twenty-four hour on-site availability of mechanical thrombectomy was improved in 10 hospitals, which resulted in a reduction in the number of secondary hospital transfers. The admission of patients with transient ischaemic attack or minor stroke was avoided in 45% of hospitals, and follow-up through telephone consultations was implemented in 100%. CONCLUSIONS: The organisational changes made in response to the SARS-Co2 pandemic in hospitals in the Region of Madrid have modified the allocation of neurology department staff and infrastructure, stroke units and stroke care pathways, diagnostic testing, hospital admissions, and outpatient follow-up

Use of intracranial stent as rescue therapy after mechanical thrombectomy failure-9-year experience in a comprehensive stroke centre.

PURPOSE: There is no established rescue treatment in patients with mechanical thrombectomy (MT) failure. Our aim is to analyse whether the use of an intracranial stent improves prognosis in these patients. METHODS: Retrospective analysis of a prospective cohort of patients with ischemic stroke due to middle cerebral artery occlusion (MCA) or distal intracranial carotid artery (ICA) occlusion, from September 2009 to April 2019 in our comprehensive stroke care centre. Patients with MT failure were identified and dichotomized into two groups according to whether or not an intracranial stent was implanted. We analysed clinical outcomes in both groups. RESULTS: There was MT failure in 60 patients (14%) of the 433 with large vessel occlusion in distal ICA and proximal MCA. A stent was placed in 20 of them (33.3%). Compared to patients without rescue stenting, they showed better rates of independence at 3 months (mRS ≤ 2) 45% vs 2.5% (p < 0.001) and lower mortality 15% vs 50% (p = 0.009), maintaining statistical significance after multivariate analysis, without a significant increase of the rate of symptomatic intracranial haemorrhage (p = 0.209). CONCLUSION: Placement of an intracranial stent as rescue therapy after MT failure was associated with better clinical outcome without significant increase in haemorrhagic complications. We believe that this procedure should be appraised in these patients.

Impact of the COVID-19 pandemic on the organisation of stroke care. Madrid Stroke Care Plan. / Impacto de la pandemia de COVID-19 en la organización asistencial del ictus. Plan Ictus Madrid.

INTRODUCTION: The overload of the healthcare system and the organisational changes made in response to the COVID-19 pandemic may be having an impact on acute stroke care in the Region of Madrid. METHODS: We conducted a survey with sections addressing hospital characteristics, changes in infrastructure and resources, code stroke clinical pathways, diagnostic testing, rehabilitation, and outpatient care. We performed a descriptive analysis of results according to the level of complexity of stroke care (availability of stroke units and mechanical thrombectomy). RESULTS: The survey was completed by 22 of the 26 hospitals in the Madrid Regional Health System that attend adult emergencies, between 16 and 27 April 2020. Ninety-five percent of hospitals had reallocated neurologists to care for patients with COVID-19. The numbers of neurology ward beds were reduced in 89.4% of hospitals; emergency department stroke care pathways were modified in 81%, with specific pathways for suspected SARS-CoV2 infection established in 50% of hospitals; and SARS-CoV2-positive patients with acute stroke were not admitted to neurology wards in 42%. Twenty-four hour on-site availability of mechanical thrombectomy was improved in 10 hospitals, which resulted in a reduction in the number of secondary hospital transfers. The admission of patients with transient ischaemic attack or minor stroke was avoided in 45% of hospitals, and follow-up through telephone consultations was implemented in 100%. CONCLUSIONS: The organisational changes made in response to the SARS-Co2 pandemic in hospitals in the Region of Madrid have modified the allocation of neurology department staff and infrastructure, stroke units and stroke care pathways, diagnostic testing, hospital admissions, and outpatient follow-up.

Dual SAVE technique for mechanical thrombectomy rescue on MCA bifurcation clots.

The Stent retriever Assisted Vacuum-locked Extraction (SAVE) technique in mechanical thrombectomy consists of the simultaneous use of a stent retriever and a distal aspiration catheter, with the removal of both as a unit when performing the thrombectomy pass. This is a safe procedure that provides a high rate of first-pass reperfusion.1 In the distal M1 segment of the middle cerebral artery (MCA) occlusions, with the distal portion of the clot extending to the upper and lower MCA branches, mechanical thrombectomy can be challenging since the thrombus is not fully trapped, with risk of distal clot migration to the branch in which the retriever is not placed. In these cases the double stent-retriever technique has been described as a rescue strategy.2-4 We describe a case of the combined use of SAVE and double stent-retriever techniques as a rescue strategy in a patient with tandem occlusion of the proximal internal carotid artery and distal MCA-the D-SAVE technique. (video 1).

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.

Análisis de recursos asistenciales para el ictus en España en 2012: ¿beneficios de la Estrategia del Ictus del Sistema Nacional de Salud? / Analysis of stroke care resources in Spain in 2012: Have we benefitted from the Spanish Health System’s stroke care strategy?

Introducción: La Estrategia del Ictus del Sistema Nacional de Salud (EISNS) fue un documento de consenso entre las distintas administraciones y sociedades científicas que se desarrolló con el objetivo de mejorar la calidad del proceso asistencial y garantizar la equidad territorial. Nuestro objetivo fue analizar los recursos asistenciales existentes y si se había cumplido el objetivo de la EISNS. Material y métodos: La encuesta sobre los recursos disponibles se realizó por un comité de neurólogos de cada una de las comunidades autónomas (CC.AA), los cuales también realizaron la encuesta de 2008. Los ítems incluidos fueron el número de Unidades de Ictus (UI), su dotación (monitorización, neurólogo 24 h/7 días, ratio enfermería, protocolos), ratio cama UI/100.000 habitantes, recursos diagnósticos (ecografía cardíaca y arterial cerebral, neuroimagen avanzada), realización de trombolisis intravenosa, intervencionismo neurovascular (INV), cirugía del infarto maligno de la arteria cerebral media (ACM) y disponibilidad de la telemedicina. Resultados: Se incluyeron datos de 136 hospitales. Existen 45 UI distribuidas de un modo desigual. La relación cama de UI por habitantes y comunidad autónoma osciló entre 1/74.000 a 1/1.037.000 habitantes, cumpliendo el objetivo solo Cantabria y Navarra. Se realizaron por neurólogos 3.237 trombolisis intravenosas en 83 hospitales, con un porcentaje respecto del total de ictus isquémico entre el 0,3 y el 33,7%. Los hospitales sin UI tenían una disponibilidad variable de recursos. Se realiza INV en todas las CC.AA salvo La Rioja, la disponibilidad del INV 24 h/7 días solo existe en 17 ciudades. Hay 46 centros con cirugía del infarto maligno de la ACM y 5 con telemedicina. Conclusión: La asistencia al ictus ha mejorado en cuanto al incremento de hospitales participantes, la mayor aplicación de trombolisis intravenosa y procedimientos endovasculares, también en la cirugía del infarto maligno de la ACM, pero con insuficiente implantación de UI y de la telemedicina. La disponibilidad de recursos diagnósticos es buena en la mayoría de las UI, e irregular en el resto de hospitales. Las distintas CC.AA deben avanzar para garantizar el mejor tratamiento y equidad territorial, y así conseguir el objetivo de la EISNS

Introduction: The Spanish Health System’s stroke care strategy (EISNS) is a consensus statement that was drawn up by various government bodies and scientific societies with the aim of improving quality throughout the care process and ensuring equality among regions. Our objective is to analyse existing healthcare resources and establish whether they have met EISNS targets. Material and methods: The survey on available resources was conducted by a committee of neurologists representing each of Spain’s regions; the same committee also conducted the survey of 2008. The items included were the number of stroke units (SU), their resources (monitoring, neurologists on call 24 h/7d, nurse ratio, protocols), SU bed ratio/100 000 inhabitants, diagnostic resources (cardiac and cerebral arterial ultrasound, advanced neuroimaging), performing iv thrombolysis, neurovascular interventional radiology (neuro VIR), surgery for malignant middle cerebral artery (MCA) infarctions and telemedicine availability. Results: We included data from 136 hospitals and found 45 Stroke Units distributed unequally among regions. The ratio of SU beds to residents ranged from 1/74,000 to 1/1,037,000 inhabitants; only the regions of Cantabria and Navarre met the target. Neurologists performed 3,237 intravenous thrombolysis procedures in 83 hospitals; thrombolysis procedures compared to the total of ischaemic strokes yielded percentages ranging from 0.3 to 33.7%. Hospitals without SUs showed varying levels of available resources. Neuro VIR is performed in every region except La Rioja, and VIR is only available on a 24 h/7 d basis in 17 cities. Surgery for malignant MCA infarction is performed in 46 hospitals, and 5 have telemedicine. Conclusion: Stroke care has improved in terms of numbers of participating hospitals, the increased use of intravenous thrombolysis and endovascular procedures, and surgery for malignant MCA infarction. Implementation of SUs and telemedicine remain insufficient. The availability of diagnostic resources is good in most SUs and irregular in other hospitals. Regional governments should strive to ensure better care and territorial equality, which would achieve the EISNS objectives

Analysis of stroke care resources in Spain in 2012: have we benefitted from the Spanish Health System's stroke care strategy?

INTRODUCTION: The Spanish Health System's stroke care strategy (EISNS) is a consensus statement that was drawn up by various government bodies and scientific societies with the aim of improving quality throughout the care process and ensuring equality among regions. Our objective is to analyse existing healthcare resources and establish whether they have met EISNS targets. MATERIAL AND METHODS: The survey on available resources was conducted by a committee of neurologists representing each of Spain's regions; the same committee also conducted the survey of 2008. The items included were the number of stroke units (SU), their resources (monitoring, neurologists on call 24h/7d, nurse ratio, protocols), SU bed ratio/100,000 inhabitants, diagnostic resources (cardiac and cerebral arterial ultrasound, advanced neuroimaging), performing iv thrombolysis, neurovascular interventional radiology (neuro VIR), surgery for malignant middle cerebral artery (MCA) infarctions and telemedicine availability. RESULTS: We included data from 136 hospitals and found 45 Stroke Units distributed unequally among regions. The ratio of SU beds to residents ranged from 1/74,000 to 1/1,037,000 inhabitants; only the regions of Cantabria and Navarre met the target. Neurologists performed 3,237 intravenous thrombolysis procedures in 83 hospitals; thrombolysis procedures compared to the total of ischaemic strokes yielded percentages ranging from 0.3 to 33.7%. Hospitals without SUs showed varying levels of available resources. Neuro VIR is performed in every region except La Rioja, and VIR is only available on a 24h/7 d basis in 17 cities. Surgery for malignant MCA infarction is performed in 46 hospitals, and 5 have telemedicine. CONCLUSION: Stroke care has improved in terms of numbers of participating hospitals, the increased use of intravenous thrombolysis and endovascular procedures, and surgery for malignant MCA infarction. Implementation of SUs and telemedicine remain insufficient. The availability of diagnostic resources is good in most SUs and irregular in other hospitals. Regional governments should strive to ensure better care and territorial equality, which would achieve the EISNS objectives.

Recursos asistenciales en ictus en España 2010: análisis de una encuesta nacional del Grupo de Estudio de Enfermedades Cerebrovasculares / Health care resources for stroke patients in Spain, 2010: analysis of a national survey by the Cerebrovascular Diseases Study Group

Introduction: Stroke is currently a major social health problem. For this reason, the Spanish Ministry of Health approved the Stroke National Strategy (SNS) in 2008 to improve the prevention, treatment and rehabilitation of stroke patients. This plan intends to guarantee 24-hour, 365-days neurological assistance in the whole country by the end of 2010. Our aim was to analyse the situation of stroke assistance in Spain in 2009. Material and methods: A committee of neurologists practicing in the different autonomous communities (AC), and who had not participated in the preparation of the SNS, was created. A national survey was performed including the number of stroke units (SU) and their characteristics (monitoring, 24-h/7-day on-call neurology service, nursing staff ratio and the use of protocols), bed ratio of SU/100,000 people, availability of intravenous thrombolysis therapy, neurovascular intervention (NI) and telemedicine. Results: We included data from 145 hospitals. There are 39 SU in Spain, unevenly distributed. The ratio between SU bed/number of people/AC varied from 1/75,000 to 1/1,037,000 inhabitants; Navarra and Cantabria met the goal. Intravenous thrombolysis therapy is used in 80 hospitals; the number of treatments per AC was between 7 and 536 in 2008. NI was performed in the 63% of the AC, with a total of 28 qualified hospitals (although only 1 hospital performed it 24h, 7days a week in 2009). There were 3 hospitals offering clinical telemedicine services. Conclusions: Assistance for stroke patients has improved in Spain compared to previous years, but there are still some important differences between the AC that must be eliminated to achieve the objectives of the SNS (AU)

Introducción: El ictus constituye un importante problema sociosanitario. Por ese motivo, el Ministerio de Sanidad aprobó en 2008 la Estrategia Nacional en Ictus (ENI) con el objetivo de mejorar la prevención, tratamiento y rehabilitación del paciente con ictus. Se pretende garantizar una atención neurológica en todo el país y a cualquier hora del día para final del 2010. Nuestro objetivo fue analizar la situación de la atención al ictus en España en el año 2009. Material y métodos: Se constituyó un comité de neurólogos de las diferentes CC. AA. que no hubieran participado en la ENI. Se elaboró una encuesta nacional que recogió el número de unidades de ictus (UI) y la dotación (monitorización, guardia de neurología 24h/7 días, ratio de enfermería y existencia de protocolos), ratio cama UI/100.000 habitantes, presencia de trombólisis iv, intervencionismo neurovascular (INV) y telemedicina. Resultados: Se incluyeron datos de 145 hospitales. Existen 39 UI distribuidas de un modo desigual. La relación cama de UI/número de habitantes/comunidad autónoma osciló entre 1/75.000 a 1/1.037.000 habitantes, cumpliendo el objetivo Navarra y Cantabria. Se realiza trombólisis iv en 80 hospitales, el número osciló entre 7-536 tratamientos/CC. AA. durante el año 2008. Se realiza INV en el 63% de las CC. AA., teniendo 28 centros capacitados, aunque sólo 1 la realizaba en 2009 las 24h/7 día. Existen 3 centros con telemedicina. Conclusiones: La asistencia al ictus ha mejorado en España respecto a unos años atrás, pero todavía existen importantes desigualdades por CC. AA. que deberían superarse si se quiere cumplir el objetivo de la ENI (AU)

Health care resources for stroke patients in Spain, 2010: analysis of a national survey by the Cerebrovascular Diseases Study Group.

INTRODUCTION: Stroke is currently a major social health problem. For this reason, the Spanish Ministry of Health approved the Stroke National Strategy (SNS) in 2008 to improve the prevention, treatment and rehabilitation of stroke patients. This plan intends to guarantee 24-hour, 365-days neurological assistance in the whole country by the end of 2010. Our aim was to analyse the situation of stroke assistance in Spain in 2009. MATERIAL AND METHODS: A committee of neurologists practicing in the different autonomous communities (AC), and who had not participated in the preparation of the SNS, was created. A national survey was performed including the number of stroke units (SU) and their characteristics (monitoring, 24-h/7-day on-call neurology service, nursing staff ratio and the use of protocols), bed ratio of SU/100,000 people, availability of intravenous thrombolysis therapy, neurovascular intervention (NI) and telemedicine. RESULTS: We included data from 145 hospitals. There are 39 SU in Spain, unevenly distributed. The ratio between SU bed/number of people/AC varied from 1/75,000 to 1/1,037,000 inhabitants; Navarra and Cantabria met the goal. Intravenous thrombolysis therapy is used in 80 hospitals; the number of treatments per AC was between 7 and 536 in 2008. NI was performed in the 63% of the AC, with a total of 28 qualified hospitals (although only 1 hospital performed it 24h, 7 days a week in 2009). There were 3 hospitals offering clinical telemedicine services. CONCLUSIONS: Assistance for stroke patients has improved in Spain compared to previous years, but there are still some important differences between the AC that must be eliminated to achieve the objectives of the SNS.

[Huntington's disease mimicking Tourette syndrome]. / Enfermedad de Huntington que simula síndrome de Tourette.

AIM: To report a patient with Huntington's disease, confirmed by a molecular genetic study, presenting with clinical features suggesting Tourette's syndrome. CASE REPORT: A thirty-years male with personal antecedents of perinatal hypoxia, but normal development; and family history (paternal grandfather) of 'abnormal repetitive movements of the upper limbs' of adult onset. He had multiple motor tics since teenage, and associated vocal tics, bruxism, and compulsions with auto-and heteroaggresivity. Neurological examination showed motor tics in the orolingual area and occasional vocal tics. Neuropsychological examination showed a mild impairment of short-term memory and language. Analytical studies including blood smears to see acanthocytes and copper metabolism studies were normal, as it was a MRI imaging. The molecular genetic study of the patient showed 46 repeats of CAG triplets in the exon 1 of the IT-15 genes, while his father (who was asymptomatic) showed 40 repeats. It was not possible to study the paternal grandfather. CONCLUSIONS: The clinical onset of Huntington's disease mimicking Tourette's syndrome is infrequent. This diagnosis should be taken in mind in patients with possible Tourette's syndrome and atypical neuropsychiatric features.

Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease.

The syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystemic disorder associated in most of the patients with an A to G transition at nucleotide position 3243 in the transfer RNA (tRNA)Leu(UUR) (A3243G) of the mitochondrial DNA. This syndrome is characterized by the preponderant involvement of skeletal muscle and central nervous system, but urinary or gastrointestinal symptoms are seldom documented. Here we report an unusual case of a 52-year-old woman with a clinical phenotype characterized by encephalopathy, left hemiparesis, urinary retention and gastrointestinal pseudo-obstruction. She had the classical A3243G mitochondrial DNA point mutation of MELAS syndrome. We also present a clinically heterogeneous multigenerational pedigree with several affected members in the maternal lineage.

Cerebrospinal fluid levels of insulin in patients with Alzheimer's disease.

OBJECTIVES: Some previous reports suggested a potential role of insulin in memory and in the pathophysiology of Alzheimer's disease (AD). We assessed the cerebrospinal fluid (CSF) levels of insulin in patients with AD and in age and sex-matched controls trying to elucidate whether this value could be related with the risk or severity of AD. PATIENTS AND METHODS: We measured the CSF insulin levels in 27 patients with AD and 16 matched controls using a RadioImmunoanalysis method. RESULTS: CSF insulin levels did not differ significantly between AD-patient and control groups. These values were not correlated with age, age at onset, duration of the disease, and scores of the MiniMental State Examination in the AD group. CONCLUSION: These results suggest that CSF insulin concentrations are not related with the risk or severity of AD.

Proton magnetic resonance spectroscopy in dementia with Lewy bodies.

Proton magnetic resonance spectroscopy ((1)H-MRS) provides a non-invasive, in vivo insight into the brain metabolism, and has been successfully used in several neurological conditions. Our objective was to characterise the cerebral metabolic changes in dementia with Lewy bodies (DLB) patients using (1)H-MRS. Single Voxel (1)H-MRS was performed in 12 DLB patients with mild to moderate symptoms and 11 age-matched healthy controls. Volumes of interest (VOI) were selected, including white matter (WM) in the centrum semiovale and grey matter (GM) in the parasagittal parietal cortex. Main metabolic peaks corresponding to N-acetylaspartate (NAA), glutamate/glutamine (Glx), choline-containing compounds (Cho), myo-inositol (Ins), and creatine plus phosphocreatine (Cr) were identified. These areas were measured and referred to that of the water. Metabolic ratios among the different peak areas were also calculated. In comparison with the control group, DLB patients showed significantly lower mean NAA/Cr, Glx1/Cr and Cho/Cr ratios in the WM, while their Ins/Cr and Ins/NAA ratios did not differ from those of the control group. In the GM, no significant differences were found between both groups. Correlations between age at onset, disease duration, Mini-Mental State Examination, the motor section of the Unified Parkinson's Disease Rating Scale, Hoehn and Yahr staging and metabolic ratios, both for WM and GM, were not significant in DLB patients. Our spectroscopy data show WM involvement, along with GM preservation, in DLB patients with early or intermediate stages. Hence, (1)H-MRS may provide adjunctive information in the ante-mortem diagnosis of DLB.

Cerebrospinal fluid levels of thiamine in patients with Alzheimer's disease.

Thiamine is an essential cofactor for several important enzymes involved in brain oxidative metabolism, such as the alpha-ketoglutarate dehydrogenase complex (KGDHC), pyruvate-dehydrogenase complex (PDHC), and transketolase. Some investigators reported decreased thiamine-diphosphate levels and decreased activities of KGDHC, pyruvate-dehydrogenase complex and transketolase in the brain tissue of Alzheimer's disease (AD) patients. We measured cerebrospinal (CSF) levels of thiamine-diphosphate, thiamine-monophosphate, free thiamine, and total thiamine, using ion-pair reversed phase high performance liquid chromatography, in 33 patients with sporadic AD and 32 matched controls. The mean CSF levels of thiamine-derivatives did not differ significantly from those of controls, while the mean plasma levels of thiamine-diphosphate, free and total thiamine were significantly lower in the AD-patient group. CSF and plasma thiamine levels were not correlated with age, age at onset, duration of the disease, and scores of the MiniMental State Examination, with the exception of plasma thiamine-diphosphate with MiniMental State Examination (r = 0.41, p < 0.05) in the AD-patients group. CSF and plasma values did not predict dementia progression, assessed with the MiniMental State Examination scores. These results suggest that CSF thiamine levels are not related with the risk for and the progression of AD.

[Cerebral cavernomas in childhood. clinical presentation and diagnosis]. / Cavernomas cerebrales en la infancia. Presentación clínica y diagnóstico.

INTRODUCTION: Intracranial vascular malformations are congenital lesions due to alterations in the development of the arteriolocapillary network. Traditionally they are divided into four types according to their histological characteristics: arteriovenous malformations, cavernous angiomas or cavernomas, venous angiomas and telangectasias. The cavernomas are multilobulated lesions which are clearly delimited and contain blood at different stages of evolution. Histologically they are composed of sinusoidal spaces lined by endothelium and closely interlinked, without intervening nervous tissue. They are usually found at a supratentorial level, and less frequently in the posterior fossa. PATIENTS AND METHODS: We made a retrospective review of the histories of 11 patients aged between 2 and 10 years, diagnosed as having intracranial cavernomas in which imaging techniques lead to the diagnosis of intracranial cavernoma. In two patients there were multiple cavernomas. We analysed the method of diagnosis and clinical features on presentation. RESULTS: The clinical features were varied. In six patients the onset of the disorder was with epileptic seizures, three had progressive neurological deficits, one patient had headache and vomiting which progressed to coma and another had a history of non specific fainting and deficit. All but one of the cavernomas were supratentorial. CONCLUSIONS: Cavernomas are a type of vascular malformation with specific histological features. The usual clinical features are convulsions and parenchymatous bleeding. They are generally supratentorial. The appearance of MR has permitted diagnosis of asymptomatic cavernomas and is currently considered to be the technique of choice for diagnosis.

Cavernomas cerebrales en la infancia: presentación clínica y diagnóstico / Cerebral cavernomas in childhood. Clinical presentation and diagnosis

Introducción. Las malformaciones vasculares intracraneales son lesiones congénitas debidas a alteraciones en el desarrollo de la red arteriolocapilar. Tradicionalmente se dividen en cuatro tipos según sus características histológicas: malformaciones arteriovenosas, angiomas cavernosos o cavernomas, angiomas venosos y telangiectasias. Los cavernomas son lesiones multilobuladas, bien delimitadas, que contienen sangre en distintos estadios evolutivos. Histologicamente se componen de espacios sinusoidales tapizados por endotelio y unidos estrechamente entre sí, sin que exista tejido nervioso interpuesto. Generalmente se localizan en zona supratentorial y, con menos frecuencia, en fosa posterior. Pacientes y métodos. Se han revisado retrospectivamente las historias de 11 pacientes con edades comprendidas entre los 2 y los 10 años, diagnosticados de cavernomas intracraneales, en los que con la prueba de imagen se llegó al diagnóstico de cavernoma intracraneal, en dos de ellos de cavernomas múltiples. Se ha analizado el método diagnóstico y la clínica de presentación. Resultados. La clínica inicial fue variada: seis comenzaron con crisis epilépticas, tres con déficit neurológico progresivo, una paciente tuvo cefalea y vómitos que progresaron a coma, y otro tenía una historia de mareos inespecíficos. Todos, excepto uno, se localizaron en zona supratentorial. Conclusiones. Los cavernomas son un tipo de malformación vascular con unas características histológicas determinadas. Los síntomas clínicos habituales son convulsiones y hemorragia parenquimatosa. Generalmente se localizan en zona supratentorial. La aparición de la RM ha permitido el diagnóstico de cavernomas asintomáticos y actualmente se considera la técnica de elección para el diagnóstico (AU)

Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family.

BACKGROUND: Cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by recurrent subcortical ischemic strokes and dementia caused by mutations in the Notch3 gene. In Drosophila melanogaster, Notch signaling has a pleiotropic effect, affecting most tissues of the organism during development. OBJECTIVE: To characterize a potential mitochondrial dysfunction associated with mutations in the Notch3 gene. METHODS: Biochemical, histochemical, molecular, and genetic analyses were performed on muscle biopsy specimens and fibroblasts obtained from patients of a Spanish family with CADASIL. Additional biochemical and molecular analyses of the N(55e11) mutant of D. melanogaster were performed. RESULTS: In muscle biopsy specimens, a significant decrease was found in the activity of complex I (NADH [reduced form of nicotinamide adenine dinucleotide] dehydrogenase), and in one patient, histochemical analysis showed the presence of ragged-red fibers with abnormal cytochrome c oxidase staining. Reduced fibroblast activity of complex V (ATP synthase) was found. Supporting data on patients with CADASIL, it was found that the mutation N(55e11) in Drosophila decreases the activity of mitochondrial respiratory complexes I and V. CONCLUSIONS: Mitochondrial respiratory chain activity responds, directly or indirectly, to the Notch signaling pathway. Mitochondrial dysfunction in patients with CADASIL may be an epiphenomenon, but results of this study suggest that the pathophysiology of the disease could include a defect in oxidative phosphorylation.

[Intracranial arachnoid cysts. A study of a series of 35 cases]. / Quistes aracnoideos intracraneales. Estudio de una serie de 35 casos.

INTRODUCTION: Arachnoid cysts are cavities with a content similar to cerebrospinal fluid, frequently communicating with the subarachnoid space. They make up 1% of the intracranial space occupying lesions, and although typically seen in children (13%), they may be undiagnosed until the patient has become adult. PATIENTS AND METHODS: We review a series of 35 cases of congenital intracranial arachnoid cysts in children, which had been investigated in the Neuropaediatric Department during 1987 1999. The patients had had cranial CAT and MR, and transcranial echography studies. RESULTS: In 85.7% there was a single cyst. The Sylvan fissure and posterior fossa were the commonest sites. The age of diagnosis was under 1 year in 54.3% and at birth in 25.7%. There were other associated malformations of the central nervous system in 31.4%, with agenesis of the corpus callosum in 45.5%. The most frequent clinical features on presentation of the condition were macrocephaly (31.4%) and epileptic crises (25.7%). The surgical treatment most often used was cystoperitoneal shunt. CONCLUSIONS: Congenital arachnoid cysts are caused by alteration in the embryogenesis of the central nervous system, and hence their association with other malformations and prevalence in children. The most frequent clinical findings were macrocephaly, due to the size of the cyst or the associated hydrocephaly, and epileptic seizures secondary to cortical irritation caused by pressure. Management of symptomatic lesions is surgical. The cystoperitoneal shunt was generally used in our series, since this was followed by clinical improvement in most cases.