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OBJECTIVE: To elucidate whether cerebrospinal fluid (CSF) concentrations of the microtubule-associated tau protein are related to the risk for sporadic amyotrophic lateral sclerosis (SALS). PATIENTS/METHODS: We measured tau concentrations in the CSF of 18 patients with SALS and 75 age- and sex-matched controls, using a specific ELISA method. RESULTS: The mean CSF concentrations of tau protein did not differ significantly between SALS patient and control groups, were not influenced by the clinical form (spinal vs bulbar) of ALS, and were not correlated with age, age at onset, and duration of the disease. CONCLUSIONS: CSF tau concentrations are not a biochemical marker of ALS.

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UNLABELLED: FUNDAMENTALS AND OBJECTIVE: Multiple sclerosis (MS) is the prototype of demyelinating disease, but recently, it has been shown that the existence of axonal lesions contribute to irreversible central nervous system damage in this disease. Tau proteins are considered to be important for maintaining the stability of axonal microtubules involved in the mediation of fast axonal transport of synaptic constituents. There have been reports of increased cerebrospinal fluid (CSF) tau concentrations in patients with MS, and it has been suggested that this could be a marker of axonal damage. The objective of the present study was to elucidate whether CSF tau levels could be a marker of MS activity. PATIENT AND METHODS: We measured tau concentrations in the CSF of 20 patients with MS (nine in the first, seven in the second, one in the fourth exacerbation, and three patients with chronic progressive course) and 32 age- and sex-matched controls, using a specific enzyme-linked immunosorbent assay method. RESULTS: The CSF tau concentrations of patients with MS did not differ from those of controls, and they were not correlated with age at onset and duration of the disease. CONCLUSION: CSF tau concentrations are not a marker of MS activity.

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INTRODUCTION: The main treatment for choreatic movements associated to Huntington s disease are the neuroleptic drugs, however, its use causes long term troubles. CASE REPORTS: We describe two patients with a predominantly choreic Huntington s disease, who experience improvement of choreatic movements after introduction of olanzapine to their treatment, being this drug well tolerated. CONCLUSIONS: The improvement of chorea suggests that olanzapine has a dopaminergic D2 receptors blocking action.

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Introducción. El tratamiento fundamental para los movimientos coreicos asociados a la enfermedad de Huntington son los neurolépticos; sin embargo, su utilización conlleva problemas a largo plazo. Casos clínicos. Presentamos dos pacientes con enfermedad de Huntington, con corea como síntoma predominante, en los que los movimientos coreicos mejoraron tras la introducción de olanzapina, que se toleró bien. Conclusión. La mejoría del corea con olanzapina sugiere que ésta tiene una acción bloqueadora de los receptores dopaminérgicos D2 (AU)

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We compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio in 33 patients with Parkinson's disease (PD) and 31 matched controls. The mean serum coenzyme Q10 levels did not differ significantly between the 2 study groups. Coenzyme Q10 levels were not correlated with age, age at onset, duration of the disease, scores of the Unified Parkinson Disease Rating Scale (UPDRS) or the Hoehn and Yahr staging in the PD group. The coenzyme Q10/cholesterol ratio had a significant correlation (although low) with duration of the disease (r = -0.46), total UPDRS score (r = -0.39), motor examination of the UPDRS (r = 0.45). These values were not influenced significantly by therapy with levodopa or dopamine agonists. The normality of serum coenzyme Q10 and coenzyme Q10/cholesterol ratio suggest that these values are not related with the risk for PD.

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We compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio in 44 patients with Alzheimer's disease (AD), 17 patients with vascular dementia (VD), and 21 matched controls. The mean serum coenzyme Q10 and cholesterol levels and the coenzyme Q10/cholesterol ratio of patients with AD or VD did not differ significantly from those of controls. Coenzyme Q10 levels and coenzyme Q10/cholesterol ratio of AD or VD patients were not correlated with age, age at onset, duration of the disease or scores of the MiniMental State Examination. These results suggest that these values are not related with the risk for AD or VD.

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OBJECTIVE: To present a case of respiratory failure as the form of onset of amyotrophic lateral sclerosis, to review the main clinical findings, data of the investigations done which suggest the presence of this disorder and describe its therapeutic management. CLINICAL CASE: A 68 year old man presented with a subacute illness characterized by a sleep disorder with sleep fragmentation, snoring of increasing intensity, without clear pauses of apnea, progressive diurnal hypersomnia accompanied by progressive dyspnea followed by respiratory failure with respiratory acidosis and difficulty in manipulating things with his hands. Diagnostic investigations showed a restrictive pattern without pulmonary fibrosis, due to paralysis of the diaphragm, and the presence of electromyographic signs compatible with motorneuron disease. The patient was treated with riluzole 100 mg/day and non-invasive mechanical ventilation and maintained an acceptable quality of life. CONCLUSIONS: Motorneuron disease may start with acute or progressive respiratory failure without a clear etiological cause and may appear to be similar to obstructive sleep apnea syndrome. The treatment of choice for this respiratory problem is non-invasive mechanical ventilation. Absence of symptoms of bulbar involvement is essential for a favourable prognosis.

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Objetivo. Presentar un caso de insuficiencia como forma de comienzo de la esclerosis lateral amiotrófica, así como revisar sus manifestaciones clínicas principales, los datos de pruebas diagnósticas sugestivos de esta enfermedad y su manejo terapéutico. Caso clínico. Varón de 68 años que presentó cuadro subagudo caracterizado por la aparición de trastorno del sueño con fragmentaciones del mismo y ronquidos crecientes en intensidad, sin claras pausa de apnea, junto con hipersomnia diurna progresiva, acompañado de disnea progresiva y posterior fallo respiratorio con acidosis respiratoria y de dificultad manipulatoria en manos. Los tests diagnósticos objetivaron un patrón restrictivo sin la presencia de fibrosis pulmonar debido a parálisis diafragmática y a la presencia de signos electromiográficos compatibles con enfermedad de motoneurona. El paciente recibió tratamiento con riluzole 100 mg/día y ventilación mecánica no invasiva manteniendo una calidad de vida aceptable. Conclusiones. La enfermedad de motoneurona puede comenzar como un cuadro de insuficiencia respiratoria aguda o progresiva sin una causa etiológica clara, pudiendo simular un síndrome de apnea obstructiva del sueño. El tratamiento de elección para su problema respiratorio sería la ventilación mecánica no invasiva, siendo fundamental para un pronóstico más favorable la ausencia de síntomas de afectación bulbar (AU)

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We compared CSF levels insulin, measured by a Radioimmunoanalysis method, in 24 patients with Parkinson's disease (PD) and 21 matched controls. The CSF insulin levels did not differ significantly between PD patients and controls. CSF insulin levels were not correlated with age, age at onset, duration of the disease, scores of the Unified Parkinson Disease Rating Scale of the Hoehn and Yahr staging in the PD group. Antiparkinsonian therapy did not influence significantly and CSF levels of insulin. These results suggest that CSF insulin concentrations are not a biological marker of PD and its severity.

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INTRODUCTION: In spite of the great variability in clinical signs in the mitochondrial disorders, reports of respiratory disorders in these conditions are purely anecdotal, and almost all occurred in patients with clinical data of the illness. We present a case in which respiratory insufficiency was the first sign of a mitochondrial disorder. CASE REPORT: A 74 year old patient, with no significant clinical history, had two episodes of severe acute respiratory insufficiency without cardiopulmonary causes to justify it. The patient was investigated for neuromuscular disorders and had a muscle biopsy compatible with mitochondrial myopathy. CONCLUSION: The occurrence of respiratory failure in patients with mitochondrial disorders is exceptional, is not related to the degree of deterioration of the respiratory function tests and is potentially reversible.

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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, and transketolase. The activity of KGDHC is decreased in the substantia nigra or patients with Parkinson's disease (PD). 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 24 PD patients and 40 matched controls. The mean CSF levels of thiamine-derivatives did not differ significantly from those of controls, with the exception of lower CSF free thiamine levels in the PD-patient group. PD patients under levodopa therapy had significantly higher CSF thiaminediphosphate and total thiamine than those not treated with this drug. CSF thiamine levels were not correlated with age, age at onset, duration of the disease, scores of the Unified Parkinson Disease Rating Scale of the Hoehn and Yahr staging in the PD group. These results suggest that low CSF free thiamine levels could be related with the risk for PD.

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We have studied 164 children with pneumopathy, ranging from one month to 8 years old. They were classified in two groups according as clinical, biological and radiological criteria. Group I (probable bacterial etiology), 65 children; group II (presumable nonbacterial cause), 35 patients. An indeterminate pattern, 64 infants. The CRP was quantified by radial immunodiffusion method. In the group II, lowest CRP values (less than 30 micrograms/ml) were detected in 86% of the patients. In the group I, 88% of the cases offered values over 30 micrograms/ml. The CRP was a sensitive indicator of diagnosis of pneumopathies in children. High CRP values (greater than 30 micrograms/ml) are suggestive of a bacterial etiology, with statistical significance (p less than 0,001).

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