High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. METHOD: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. RESULTS: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. CONCLUSIONS: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

Choice of pyrolysis parameters for urban wastes affects soil enzymes and plant germination in a Mediterranean soil.

The production of organic waste has steadily increased in recent years, with subsequent impact on the environment. The European Union committed to diminish the volume of biodegradable municipal waste disposed of in landfills by 2016-2020. The synthesis of biochar from urban waste and its application to improve soil quality can constitute a novel route for valorization. The aim of this paper was to study the effect of three biochars originated from pyrolysis of the organic fraction of urban waste at two different temperatures (300°C and 500°C) and two residence times (1h and 5h) on the biochemical properties of an agricultural soil. Soil was amended with biochars at a rate of 8% and incubated for 74days. A phytotoxicity assay, using garden cress as the test species, was conducted. CO2 emissions, microbial biomass C and the enzymes dehydrogenase, phosphomonoesterase and ß-glucosidase were measured in tested soils. Biochars prepared at 300°C resulted in lower germination index values, which could partly be ascribed to a higher bioavailability of heavy metals and higher soluble organic matter, while the biochar prepared as 500°C exhibited a phytostimulant effect. Biochars produced at 300°C (B300-1h, B300-5h) augmented soil CO2 emissions while there was no effect on microbial respiration in the soil amended with the biochar prepared at 500°C. Pyrolysis temperature and, for some enzymes, residence time, controlled soil enzymatic activity.

Prevalence of epilepsy amongst adolescents in Huesca, Spain: a community-based study.

BACKGROUND AND PURPOSE: The goal of this work was to investigate the prevalence of epilepsy in adolescence in the province of Huesca, a region situated in the north of Spain, and to compare the findings with other studies. METHODS: All patients aged 10-19 with epilepsy on January 2003 residing in this area, were identified from multiple sources. We followed the guidelines of the International League Against Epilepsy (ILAE) for epidemiological studies. Collected data were examined by experts in the field of epilepsy, and all the patients were reevaluated using a diagnostic questionnaire. We identified the type of epilepsy, age at onset, duration, etiological agents and development. RESULTS: One hundred twenty-two cases of active epilepsy were found, and 23 in remission. The prevalence for active epilepsy was 6.3/1000 (95% CI 5.2-7.4); slightly higher in women and the 15-19 age group. We observed a predominance of generalized seizures. The age of onset ranged from 7 months to 16 years. Duration ranged from 1 to 18 years. Eighty percentage of cases were classified as idiopathic or cryptogenic and 19.7% as symptomatic. CONCLUSION: Our results are comparable with the majority of studies carried out in industrialized countries.

Single-blind, placebo-controlled pilot study of pregabalin for ataxia in cortical cerebellar atrophy.

OBJECTIVE: To preliminarily compare the efficacy of pregabalin with that of placebo on the cerebellar signs caused by cortical cerebellar atrophy (CCA). A deficiency of gamma-aminobutyric acid (GABA) has been described in the cerebellum in CCA, and pregabalin has been shown to enhance GABA release in rat hippocampus. PATIENTS AND METHODS: Two consecutive patients with clinical diagnoses of CCA took part in the study. A placebo and pregabalin, 225 mg per day, were administered in a single-blind scheme during 15 day periods to every patient; cerebellar function was evaluated with the Scale for the Assessment and Rating of Ataxia (SARA) at the end of each period. A video recording of the SARA items performed by the first patient accompanies this article. RESULTS: Total SARA scores of 19 and 15 were obtained for the patients after placebo administration. The SARA scores decreased to 11 and 8, respectively, with the administration of pregabalin; an important amelioration of the ataxia was also evident. Both patients preferred continuing treatment with pregabalin when the trial was over. CONCLUSION: Pregabalin was superior to placebo in the improvement of the cerebellar signs caused by CCA. Further studies are needed to confirm the present results.

[Adult-onset ataxia-telangiectasia. A clinical and therapeutic observation]. / Ataxia-telangiectasia del adulto. Observación clínica y terapéutica.

A case of adult-onset ataxia-telangiectasia (AT) is presented, with debut at the age of 18 years and survival into the fourth decade. The clinical picture included cerebellar ataxia, distal weakness and hypopalesthesia in the lower limbs, oculomotor apraxia, dysarthria, and conjunctival telangiectasiae. Carcinoembrionic antigen was raised in plasma. MR imaging showed atrophy of the cerebellar vermis and thinning of the spinal cord. Deficiencies of gamma-aminobutyric acid and glutamate have been found in the cerebellar cortex in a case of AT. These were attributed to the loss of Purkinje cells and granule cells. In spite of some ataxias having improved with the gabaergic drugs gabapentin and tiagabine, the administration of gabapentin, acetazolamide and a placebo, did not benefit this patient. Pregabalin, 225 mg/day, ameliorated the ataxia unexpectedly, with further improvement after the addition of tiagabine. The authors suggest that the beneficial effect observed might have been due, either to the higher affinity of pregabalin towards alpha2-delta, a subtype of the alpha2-delta subunit which forms part of the voltage-gated calcium channel; either to the profusion of this subtype in the Purkinje cell layer, or to its larger capacity to let calcium into the neuron; or to the combination of these. These differences with gabapentin could explain the higher power of pregabalin in the stimulation of the cerebellar structures, thus justifying the improvement of ataxia in this case of AT. A synergistic effect with pregabalin is proposed as the cause of the improvement obtained with the addition of tiagabine.

Ataxia-telangiectasia del adulto. Observacion clínica y terapéutica / Adult-onset ataxia-telangiectasia. A clinical and therapeutic observation

Se presenta un caso de la variante del adulto de ataxiatelangiectasia (AT) que comenzó a los 18 años y perdura en la cuarta década. El cuadro neurológico incluyó ataxia cerebelosa, debilidad muscular e hipopalestesia distales en las extremidades inferiores, apraxia oculomotriz y disartria. En el cuadro sistémico se apreciaron telangiectasias conjuntivales y en el bioquímico, elevación del antígeno carcinoembrionario. Un estudio con resonancia magnética reveló atrofia del vermis cerebeloso y adelgazamiento de la médula espinal. Se ha evidenciado en la AT deficiencia de ácido ³-aminobutírico y de glutamato en la corteza cerebelosa debida a la pérdida de células de Purkinje, células granulosas y aferencias glutamatérgicas. A pesar de la mejoría observada en algunas ataxias con los fármacos gabaérgicos gabapentina y tiagabina, la administración de gabapentina, acetazolamida y un placebo no produjo beneficio en este caso. La administración de 225 mg/día de pregabalina proporcionó una mejoría inesperada de la ataxia. Esta mejoría incrementó al añadir tiagabina. Los autores sugieren que este efecto favorable de la pregabalina pudiera tener relación con su superior afinidad por ±2-´2, subtipo de la subunidad ±2-´ de los canales de calcio dependientes de voltaje, cuya máxima expresión se da en las células de Purkinje. También podría estar relacionada con la fisiología de ±2-´2, que permite un mayor ingreso de calcio en la neurona, o bien con todas esas posibilidades. Las diferencias de acción con la gabapentina podrían explicar una mayor potencia de la pregabalina en las estructuras del cerebelo, y justificar así la mejoría de la ataxia. Se propone un efecto sinérgico con la pregabalina como causa de la mejoría observada al añadir tiagabina (AU)

A case of adult-onset ataxia-telangiectasia (AT) is presented, with debut at the age of 18 years and survival into the fourth decade. The clinical picture included cerebellar ataxia, distal weakness and hypopalesthesia in the lower limbs, oculomotor apraxia, dysarthria, and conjunctival telangiectasiae. Carcinoembrionic antigen was raised in plasma. MR imaging showed atrophy of the cerebellar vermis and thinning of the spinal cord. Deficiencies of gamma-aminobutyric acid and glutamate have been found in the cerebellar cortex in a case of AT. These were attributed to the loss of Purkinje cells and granule cells. In spite of some ataxias having improved with the gabaergic drugs gabapentin and tiagabine, the administration of gabapentin, acetazolamide and a placebo, did not benefit this patient. Pregabalin, 225 mg/day, ameliorated the ataxia unexpectedly, with further improvement after the addition of tiagabine. The authors suggest that the beneficial effect observed might have been due, either to the higher affinity of pregabalin towards alpha2-delta, a subtype of the alpha2-delta subunit which forms part of the voltage-gated calcium channel; either to the profusion of this subtype in the Purkinje cell layer, or to its larger capacity to let calcium into the neuron; or to the combination of these. These differences with gabapentin could explain the higher power of pregabalin in the stimulation of the cerebellar structures, thus justifying the improvement of ataxia in this case of AT. A synergistic effect with pregabalin is proposed as the cause of the improvement obtained with the addition of tiagabine (AU)