The ion channel TRPM8 is a direct target of the immunosuppressant rapamycin in primary sensory neurons.

Background And Purpose: The mechanistic target of rapamycin (mTOR) signalling pathway is a key regulator of cell growth and metabolism. Its deregulation is implicated in several diseases. The macrolide rapamycin, a specific inhibitor of mTOR, has immunosuppressive, anti-inflammatory and antiproliferative properties.

The dilemma of choosing obstetrics and anesthesia techniques in a patient with cerebral cavernomatosis: a case report.

This report describes the case of a pregnant woman who arrived for preanesthetic assessment of External Cephalic Version (ECV) for fetus in breech presentation and cesarean section in case of ECV failure. Although the technique seems simple, attempts to rotate the fetus can result in elevated intracranial pressure, which might cause malformation bleeding. The most appropriate anesthetic technique in cases of arteriovenous malformations during C-sections has not been determined.

The Immunosuppressant Macrolide Tacrolimus Activates Cold-Sensing TRPM8 Channels.

TRPM8 is a polymodal, nonselective cation channel activated by cold temperature and cooling agents that plays a critical role in the detection of environmental cold. We found that TRPM8 is a pharmacological target of tacrolimus (FK506), a macrolide immunosuppressant with several clinical uses, including the treatment of organ rejection following transplants, treatment of atopic dermatitis, and dry eye disease. Tacrolimus is an inhibitor of the phosphatase calcineurin, an action shared with cyclosporine.

[The atypical developments of rolandic epilepsy are predictable complications].

Introduction: The development of atypical features in rolandic epilepsy is part of a clinical spectrum of phenotypes that are variable, idiopathic and age-dependent, as well as having a genetically determined predisposition.

Aim: To study the electroclinical characteristics suggesting an atypical development in rolandic epilepsy.

Patients And Methods: A retrospective search was performed in 133 children diagnosed with atypical benign focal epilepsy (ABFE), Landau-Kleffner syndrome and continuous spike-wave during sleep (CSWS).

Calcium-induced outgrowth of astrocytic peripheral processes requires actin binding by Profilin-1.

Peripheral astrocytic processes (PAPs) are highly motile structures that are strategically positioned in close proximity to synapses. Long-lasting PAP retraction in hypothalamus is known to alter synaptic transmission. The PAP motility is likely to be actin-based because they are known to contain actin-related proteins such as Ezrin.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

Mutations conferring loss of function at the FLNA (encoding filamin A) locus lead to X-linked periventricular nodular heterotopia (XL-PH), with seizures constituting the most common clinical manifestation of this disorder in female heterozygotes. Vascular dilatation (mainly the aorta), joint hypermobility and variable skin findings are also associated anomalies, with some reports suggesting that this might represents a separate syndrome allelic to XL-PH, termed as Ehlers-Danlos syndrome-periventricular heterotopia variant (EDS-PH). Here, we report a cohort of 11 males and females with both hypomorphic and null mutations in FLNA that manifest a wide spectrum of connective tissue and vascular anomalies.

Transanal irrigation for the treatment of neuropathic bowel dysfunction.

Introduction: Children with spinal cord lesions very often experience bowel dysfunction, with a significant impact on their social activities and quality of life. Our aim was to evaluate the efficacy of the Peristeen transanal irrigation (TI) system in patients with neuropathic bowel dysfunction (NBD).

Material And Methods: We prospectively reviewed 40 children with spina bifida and NBD who did not respond satisfactorily to conventional bowel management and were treated with the Peristeen TI system.

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for these chromosomal abnormalities routinely. Multiplex ligation-dependent probe amplification (MLPA) is a new technique for measuring sequence dosage, allowing large number of samples to be processed simultaneously and thus significantly reducing laboratory work.

Optimization of erythritol and glycerol accumulation in conidia of Beauveria bassiana by solid-state fermentation, using response surface methodology.

Entomopathogenic fungi are widely produced for use as mycoinsecticides. Therefore, improvement of the shelf life of fungal propagules under good and adverse conditions should be a pre-requisite of their production. In order to improve conidial physiology as well as mycoinsecticide efficiency, culture conditions may be varied.

[Is benign childhood paroxysmal eye deviation a non-epileptic disorder?].

Introduction: Benign childhood paroxysmal eye deviation (BCPED) is classified as a 'non-epileptic paroxysmal disorder'.

Case Reports: We report the cases of four patients aged between 6 months and 2 years, who suffered brief episodes of upward conjugate gaze deviation, with no clonic movements or associated cognitive deterioration. These episodes, which lasted several seconds, appeared in short repeated bouts that became worse with fatigue.

[Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects].

Introduction: Severe myoclonic epilepsy in infancy (SMEI), or Dravet s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process.

Patients And Methods: The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages.

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

Introduction: Lafora s disease is a type of progressive myoclonic epilepsy with bad prognosis. Until now diagnosis was based on finding characteristic intracytoplasmatic polyglucosan bodies in biopsies of sweat secreting cells in the skin. Recently the gene responsible has been discovered.

[Alpha coma: clinical, electroencephalographic and aetiological correlation in childhood].

Introduction: Alpha coma is defined as the appearance, in an unconscious patient, of EEG activity in the alpha frequency band (8-13Hz).

Objective: To determine, in our setting, the incidence, aetiology, clinical significance and course of alpha coma in paediatric patients and review the literature.

Patients And Methods: We did a retrospective study of the patients admitted to a paediatric intensive care unit who had alpha activity recorded whilst in coma.

Hypohidrosis related to the administration of topiramate to children.

Purpose: Topiramate (TPM) is an antiepileptic agent, first licensed in the United Kingdom in 1994, that is used in the treatment of patients with refractory seizure disorders. TPM is a monosaccharide d-fructose derivate, with sulfamate function, and so far, few adverse side effects have been reported.

Methods: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever.

[Neonatal EEG trace of burst suppression. Etiological and evolutionary factors].

Introduction: The electroencephalographic (EEG) trace seen during the neonatal period which shows so called discharges of burst suppression, is caused by a severe disorder of cerebral electrogenesis occurring at this time.

Objective: To determine the aetiology, clinical significance and evolution of a group of newborn babies with this type of EEG trace.

Patients And Methods: We made a retrospective study of fullterm babies in whom burst suppression EEG recordings had been obtained during the neonatal period.

[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children].

Introduction: The presence in neuroimaging of areas of symmetrical bilateral hypodensity in the basal ganglia (SBHBG) is a striking and unusual finding.

Objective: To determine the aetiology, clinical significance and evolution of a group of paediatric patients with SBHBG.

Patients And Methods: We made a study of 21 patients with neuroimaging studies (CT or MR) showing SBHBG.

[Schilder's diffuse myelinoclastic sclerosis].

Objective: The aim of this study is to analyze clinical features, neuroradiological findings and evolution associated with Schilder s disease (SD).

Patients And Methods: We describe 5 cases (4 female/1 male) diagnosed of SD. Clinical characteristics, neuroimaging (CT and MRI), EEG, evoked potential analysis (4/5) and laboratory tests are provided, including the level of serum very long chain fatty acid of plasma cholesterol esters (3/5).

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

The enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyzes the reutilization of hypoxanthine and guanine to the purine nucleotides IMP and GMP, respectively. HPRT deficiency is an X-linked disorder characterized by uric acid overproduction and variable neurologic impairment. The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, spasticity, mental retardation, and self-injurious behavior.

Evaluation of Beauveria bassiana (hyphomycetes) strains as potential agents for control of Triatoma infestans (Hemiptera: Reduviidae).

Chagas disease constitutes a major human health problem in most Latin American countries. This endemic disease is transmitted by several species of triatomine bugs, the most important being Triatoma infestans (Klug). In this article, we report on the selection of strains of the entomopathogenic fungus Beauveria bassiana (Bals.

[Occipital leptomeningeal angiomatosis without facial angioma. Could it be considered a variant of Sturge-Weber syndrome?].

Introduction: The association of cerebral leptomeningeal angioma and facial nevus flameus in the territory of the first branch of the trigeminal nerve ipsilateral to the angioma is known as the Sturge-Weber syndrome. The cases with absence of a facial angioma are usually considered to be variants of the syndrome.

Objective: To present four cases with occipital leptomeningeal angioma without facial angioma and describe the characteristics which differentiate them from or permit their inclusion within the group of Sturge-Weber syndrome, and also to establish the differences between this and the Gobbi syndrome (occipital cerebral calcifications, epilepsy and coeliac disease.

[A study of Gobbi's syndrome in Spanish population].

Introduction: The association of epilepsy, occipital cerebral calcifications and coeliac disease was recognized for the first time in 1992 by Gobbi as an independent syndrome. He emphasized that it occurred almost exclusively in persons of Italian origin.

Objective: To define the prevalence of this syndrome in the Spanish population with a view to confirming its probably genetic etiopathogenesis.

[The value of images in diagnosis of neuron migration disorders].

Objective: To present the fitest classification and the imaging peculiarities of the malformations of cortical development, most of which have been related with the epilepsy origin.

Methods: The study is based on an anatomical-histological classification scheme that shows three great groups of malformations of cortical development: 1. Malformations due to abnormal neuronal and glial proliferation.

Hypomelanosis of ITO. A study of 76 infantile cases.

We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the first visit. They were thoroughly studied from the clinical, genetic, psychological, neuroradiological, with computed tomography (CT) and/or magnetic resonance imaging (MRI), and electroencephalographic (EEG) points of view.