La alteración de la mielina en la enfermedad de Alexander

Introduction

Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for GFAP have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood.

Medidas de protección radiológica: implicaciones en el diseño de quirófanos de neurocirugía

Objective

To describe pros and cons of some radiation protection measures and the implications on the design of a neurosurgery operating room.

Efecto de la exposición a bajas dosis de ozono en la expresión de la interleucina 17A durante el proceso de neurodegeneración progresiva en el hipocampo de ratas

IntroductionChronic exposure to low doses of ozone causes oxidative stress and loss of regulation of the inflammatory response, leading to progressive neurodegeneration.ObjectiveWe studied the effect of chronic exposure to low doses of ozone on IL-17A concentration and expression in neurons, microglia, astrocytes, and T cells in the rat hippocampus.MethodsWe used 72 Wistar rats, divided into 6 groups (n = 12): a control group (no ozone exposure) and 5 groups exposed to ozone (0.25 ppm, 4 h daily) for 7, 15, 30, 60, and 90 days. We processed 6 rats from each group to quantify IL-17A by ELISA; the remaining 6 were processed for immunohistochemistry (against IL-17A and GFAP, Iba1, NeuN, and CD3).ResultsThe ELISA study data showed a significant increase in IL-17A concentrations in the 7-, 15-, 30-, and 60-day exposure groups, with regard to the control group (P < .05). Furthermore, they indicate that hippocampal neurons were the cells showing greatest immunoreactivity against IL-17A between 60 and 90 days of exposure to ozone; we also observed an increase in activated astrocytes in the 30- and 60-day exposure groups.ConclusionExposure to ozone in rats induces an increase in IL-17A expression, mainly in hippocampal neurons, accompanied by hippocampal astrocyte activation during chronic neurodegeneration, similar to that observed in Alzheimer disease in humans.     

Validez pronóstica de las amplitudes de presión,tiempo en alcanzar la meseta y la pendiente obtenidas en el test de infusión para el estudio de la hidrocefalia idiopática de presión normal

Background and objectiveTo study the prognostic value of the resistance to the cerebrospinal fluid outflow (Rout) obtained in the lumbar infusion test in idiopathic normal pressure hydrocephalus (iNPH), as well as the pulse pressure amplitudes in the different periods of the test and other new variables extracted by Neuropicture® software.Material and methodsPatients with ?probable iNPH? who underwent a lumbar infusion test were retrospectively revised. The positive predictive values (PPV) of the cutoff point of the best prognostic accuracy of the Rout, the basal pulse pressure amplitude (AMP0), the pulse pressure amplitude during the first 10 minutes (AMP_10min), the plateau pulse pressure amplitude (AMPmes), the Rout pulse pressure amplitude (AMP_Rout), the time to reach the plateau (T), and the slope until reaching the plateau were determined. Patients were categorized either as responders or non-responders.ResultsThe study included 64 responders patients and 16 non-responders patients. The PPV of Rout > 15 mmHg/ml/min was 91.7%; AMP0 > 2.34 mmHg: 91.3%; AMP10min > 4.34 mmHg: 83.3%; AMPmes > 12.44 mmHg: 84.6%; AMP_Rout > 6.34 mmHg: 85%; T < 634 seconds: 86.7%; P > 0.040 mmHg/sec: 96.3%.ConclusionsRout is a valid criterion to indicate a ventricular shunt. Pulse pressure amplitudes in the different periods of the lumbar infusion test, in addition to T and P, are other variables whose positivity is indicative of shunt response and should be considered in the diagnostic protocol of the iNPH.     

Papel de la microbiota intestinal en el desarrollo de diferentes enfermedades neurológicas

IntroductionIn recent years, the scientific evidence supporting a relationship between the microbiota and various diseases has increased significantly; this trend has also been observed for neurological diseases. This has given rise to the concept of the gut-brain axis and the idea of a relationship between the gut microbiota and several neurological diseases whose aetiopathogenesis is yet to be clearly defined.DevelopmentWe review the role of the gut microbiota in the gut-brain axis and analyse those neurological diseases in which alterations in the gut microbiota have been described as a result of human studies: specifically, Parkinson's disease, Alzheimer disease, amyotrophic lateral sclerosis, neuromyelitis optica, and multiple sclerosis.ConclusionsThe body of evidence linking the gut microbiota to various neurological diseases has grown considerably. Several interesting studies show a relationship between the gut microbiota and Parkinson's disease, Alzheimer disease, neuromyelitis optica, and multiple sclerosis, whereas other controversial studies implicate it in amyotrophic lateral sclerosis. Many of these studies place considerable emphasis on modulation of inflammation, particularly by bacteria capable of producing short-chain fatty acids.Despite these encouraging results, many questions remain, and there is a need to demonstrate causality, determine the role of fungi or viruses, and research possible treatment through diet, probiotics, or faecal microbiota transplantation.     

Prevalencia de deterioro cognitivo en España. Estudio Gómez de Caso en redes centinelas sanitarias

Introduction

Cognitive impairment, a clinical entity causing complete or partial intellectual dysfunction, is a major public health concern that poses a challenge for health and social services. The purpose of this study is to estimate the prevalence of this disorder in people aged 65 and older visiting the primary care physician in 5 health sentinel networks.

Apps en neurorrehabilitación. Una revisión sistemática de aplicaciones móviles

Introduction

Mobile health or mHealth, defined as the provision of health information or healthcare by means of mobile devices or tablets, is emerging as a major game-changer for patients, care providers, and investors. An app is a program with special characteristics installed on a small mobile device, either a tablet or smartphone, with which the user interacts via a touch-based interface. The purpose of the app is to facilitate completion of a certain task or assist with daily activities.

Lesiones traumáticas de la carótida interna en la infancia. Revisión de tres casos

We present three patients aged 2, 14 and 15 years respectively, who suffered traumatic carotid injury. They were studied by CT and angiography, and the most recent patient also had MR imaging.The fact that CT has become the more reliable and extended study for diagnosis in cranial trauma patients, is crucial in underdiagnosing vascular lesions. Only a high index of suspicion and the practice of angiographical studies allows sorne degree of success in treating these vascular lesions and preventing their serious consequences in terms of high mortalíty and morbility rates (cerebral infarcts).Our three patients were diagnosed angiographically only after their neurological deficits were already installed. Although treatment options were different in each case, they were applied too late within the course. We had no mortality, but neurological sequelae were unchanged after treatment through a follow-up period of 10, 8 and 3 years respectively. Even though in one patient we have confirmed angiographic revascularization, the CT and MR show a clearly defined area of cerebral infarct.     

Influencia de la estimulación cerebral profunda en la carga de cuidadores de pacientes con enfermedad de Parkinson

Introduction

Our aim is to assess the burden on caregivers of patients with Parkinson's disease treated with deep brain stimulation (DBS) compared to those caring for patients at advanced stages and undergoing other treatments. We have also assessed the variables associated with presence of caregiver overload.

Variabilidad en la exploración motora de la enfermedad de Parkinson entre el neurólogo experto en trastornos del movimiento y la enfermera especializada

Introduction and objectiveIn clinical practice, assessing patients with Parkinson's disease (PD) is a complex, time-consuming task. Our purpose is to provide a rigorous and objective evaluation of how motor function in PD patients is assessed by neurologists specialising in movement disorders, on the one hand, and by nurses specialising in PD management, on the other.MethodsWe conducted an observational, cross-sectional, single-centre study of 50 patients with PD (52% men; mean age: 64.7  ±  8.7 years) who were assessed between 5 January 2016 and 20 July 2016. A neurologist and a nurse evaluated motor function in the early morning hours using the Unified Parkinson's Disease Rating Scale (UPDRS) parts III and IV and Hoehn & Yahr (H&Y) scale. Tests were administered in the same PD periods (in 48 patients during the ‘off’ time and in 2 patients during the ‘on’ time). Inter-rater variability was estimated with the intraclass correlation coefficient (ICC).ResultsForty-nine patients (98%) were classified in the same H&Y stage by both raters. Assessment times were similar for both raters. ICC for UPDRS-IV and UPDRS-III total scores were 0.955 (P<.0001) and 0.954 (P<.0001), respectively. The greatest variability was found for UPDRS-III item 29 (gait; ICC = 0.746; P<.0001) and the lowest, for item 30 (postural stability; ICC = 0.918; P<.0001).ConclusionsMotor function assessment of PD patients by a trained nurse is equivalent to that made by an expert neurologist and takes the same time to complete.     

Evaluación del estado nutricional en la enfermedad de Alzheimer y su influencia en la progresión tras el diagnóstico

IntroductionNutritional deficiencies are frequent in Alzheimer disease (AD), even in early stages. Nutritional impairment (NI) may be associated with faster disease progression. The objective of this study was to describe the frequency of NI and the associated risk factors at the time of diagnosis and to analyse its influence on subsequent progression.MethodsWe performed a prospective, multicentre, observational study of patients recently diagnosed with prodromal AD (pAD) or dementia due to AD (ADd). Two clinical assessments were conducted over a period of 18 months. The Mini Nutritional Assessment test (MNA; score range, 0-30; cut-off point for NI, < 24) was used to estimate nutritional status. Progression was defined as an increase of ≥ 3 points on the Clinical Dementia Rating-sum of boxes test.ResultsThe sample included 50 patients with pAD (mean [standard deviation] age, 76.1 [5.3] years; 68% women), and 127 with ADd (80 [5.9] years; 72.4% women). A total of 141 (79.7%) completed both evaluations. The prevalence of NI was 28.2% (24% for pAD, 29.9% for ADd; P = .43), with the majority (92%) at risk of malnutrition. NI was associated with female sex (odds ratio [OR]: 4.2; 95% confidence interval [CI]: 1.7-10.5; P < .001) and greater behavioural involvement (OR: 5.8; 95% CI: 2.6-12.7; P < .001). A larger proportion of patients with progression was observed among those with NI than among those with normal nutritional status (50% vs 28.7%, P < .05; ADd: 53.6% vs 31.8%, P < .05; pAD: 41.7% vs 22.9%, P = .21). Greater cognitive impairment (OR: 2.1; 95% CI: 1.03-4.4; P < .05) and NI (OR: 2.4; 95% CI: 1.1-5.1; P < .05) were independent risk factors for disease progression.ConclusionsNI is highly prevalent in patients with AD. Assessing nutritional status at the time of diagnosis may enable identification of patients at greater risk of disease progression.     

Variante amelanótica en melanoma cerebral primario: a propósito de un caso

Primary brain melanoma is a very rare tumour (only 0.07% of primary CNS neoplasms) which usually shows with abundant melanin content; whereas hypo/melanotic variants have been scarcely described.We introduce the case of a female patient with headache, left brachial paresis and frontal lobar syndrome. The MRI image showed a right frontal mass with homogeneous contrast uptake. As treatment, a complete surgical resection was performed. Pathology was diagnostic for melanoma, with very low melanin content and a high proliferative index. A thorough extension study was performed to rule out an extracranial primary origin. Due to several intercurrent complications, the patient evolved unfavorably, not being able to receive further treatment.The amelanotic variant of primary intracranial malignant melanomas has not been described in detail previously. We will review the literature, focusing on the particularities of management and diagnosis of this clinical entity.     

¿Existe mayor riesgo de suicidio en pacientes diagnosticados de una enfermedad neurológica?

IntroductionNeurological diseases are the leading cause of disability and the second leading cause of death worldwide. Physical and psychological pain, despair, and disconnection with the environment are observed after the diagnosis of numerous neurological processes, particularly neurodegenerative diseases.DevelopmentA higher risk of suicide is observed in patients with such common neurological diseases as epilepsy, migraine, and multiple sclerosis, as well as in those with such degenerative disorders as Alzheimer disease, Huntington disease, amyotrophic lateral sclerosis, and Parkinson's disease. In most cases, suicidal ideation appears in the early stages after diagnosis, in the presence of disabling symptoms, and/or in patients with psychiatric comorbidities (often associated with these neurological diseases).ConclusionsEffective suicide prevention in this population group requires assessment of the risk of suicide mainly in newly diagnosed patients, in patients showing unmistakable despair or disabling symptoms, and in patients presenting psychiatric comorbidities (especially depressive symptoms). It is essential to train specialists to detect warning signs in order that they may adopt a suitable approach and determine when psychiatric assessment is required.     

Evaluación de la incidencia y tendencia de la enfermedad cerebrovascular en la región sanitaria de Lleida (España) en el periodo 2010-2014

ObjectivesThis study aimed to determine the incidence and trends of cerebrovascular disease (CVD) in the healthcare district of Lleida.Material and methodsWe performed a population-based prospective cohort study including the entire population of the healthcare district of Lleida (440 000 people). Information was gathered from the minimum basic data set from the emergency department and hospital discharges for the period from January 2010 to December 2014. All types of stroke were included. We evaluated crude and age-standardised rates using the world population as a reference. Patients without neuroimaging confirmation of the diagnosis were excluded.ResultsWe identified 4397 patients: 1617 (36.8%) were aged 80 years or over; 3969 (90.3%) presented ischaemic stroke, and 1741 (39.6%) were women. The crude incidence rate ranged from 192 (95% confidence interval [CI], 179-205) to 211 (95% CI, 197-224) cases per 100 000 population, in 2012 and 2013, respectively. Age-standardised rates ranged from 93 (95% CI, 86-100) to 104 (95% CI, 96-111) cases per 100 000 population, in 2012 and 2013, respectively. For all years, incidence rates increased with age, and were significantly higher among men than among women.ConclusionThe impact of CVD in Lleida is comparable to that observed in other European regions. However, population ageing induces a high crude incidence rate, which remained stable over the five-year study period.     

Identificación de factores de riesgo genéticos asociados a la enfermedad vascular cerebral de tipo isquémico en jóvenes mexicanos

IntroductionNumerous polymorphisms in candidate genes coding for haemostatic system proteins have been proposed as risk factors for thrombosis.MethodsWe performed a case-control study of consecutive ischaemic stroke survivors aged ≤  45 years, treated at our neurology department from 2006 to 2014. Polymerase chain reaction–restriction fragment length polymorphism identified the following polymorphisms: Thr325Ile and Ala147Thr in TAFI, 4G/5G in PAI-1, PLA1/A2 in platelet glycoprotein IIb/IIIa, Glu298Asp in eNOS, and C677T in 5,10-MTHFR. A multivariate logistic regression analysis was performed to evaluate the independent risk of stroke.Results204 cases and 204 age- and sex-matched controls were included in the study. Clinical and genetic variables associated with ischaemic stroke were hypertension (P = .03), tobacco use (P = .02), and the polymorphisms Glu298Asp (genotype: P = .001, allele frequency: P = .001) and C677T (genotype: P = .01); the Ala147Thr, Thr325IIe, 4G/5G, and PLA1/A2 mutations were not associated with ischaemic stroke. The 298Asp (P = .03) and T (P = .01) alleles, hypertension (P = .03), tobacco use (P = .01) and family history of stroke (P = .04) were identified as independent risk factors.ConclusionsThe polymorphisms Glu298Asp and C677T, affecting the eNOS and 5,10-MTHFR enzymes, respectively, and smoking, hypertension, and family history of stroke were associated with ischaemic stroke in young Mexican patients; this was not the case for the Thr325Ile, Ala147Thr, 4G/5G, and PLA1/A2 polymorphisms of the genes coding for fibrinolytic proteins and platelet receptors.