Autonomic function and its relationship with central obesity and hemodynamic variables in obese and overweight adults / Función autonómica y su relación con la obesidad central y las variables hemodinámicas en adultos obesos y con sobrepeso

Introduction: central obesity is associated with an autonomic dysfunction characterized by an increase in sympathetic activity and a reduction in vagal tone, leading to a decrease in heart rate variability. Objective: we aimed to analyze the relationship between the time and frequency domains of heart rate variability with central obesity, and its hemodynamic variables in normal-weight, overweight and obese adults. Methods: a total of 65 adults were evaluated (25.4 ± 3.2 years old) and distributed in 3 groups: normal weight group (NW group), overweight group (OW group) and obese group (OB group). Heart rate variability parameters at rest and both anthropometric and hemodynamic variables were recorded. Results: the results showed a positive correlation between waist circunference and LF/HF ratio in the OW (p = 0.0008; r = 0.6607; r2 = 0.4365) and OB (p = 0.0001; r = 0.8286; r2 = 0.6866) groups. The waist-to-height ratio showed significant differences with HF in the NW, OW, and OB groups. The variables related to the parasympathetic system (SDNN, RMSSD, pNN50, HF) in the OB and OW groups showed a decrease in values when compared to the NW group. Likewise, the variable related to the sympathetic system (LF) in the OB and OW groups increased its values when compared with the NW group. The LF/HF ratio increased from the NW group to the OW and OB groups (1.6 ± 0.7; 2.5 ± 1.8 and 3.3 ± 0.7). Conclusion: overweight and obese adults present a modulation of sympathetic activity predominance at rest. This increased activity is represented by the time and frequency domains of heart rate variability, having an important correlation with waist circumference and waist-to-height ratio (AU)

Introducción: la obesidad central se asocia con una disfunción autonómica caracterizada por una mayor actividad simpática y reducción del tono vagal, conduciendo a una disminución de la variabilidad de la frecuencia cardíaca (VFC). Objetivo: analizar la relación entre los dominios de tiempo y frecuencia de la VFC con la obesidad central y sus variables hemodinámicas en adultos con peso normal, sobrepeso y obesidad. Metodología: participaron 65 adultos (25,4 ± 3,2 años) distribuidos en 3 grupos: peso normal (grupo NW), sobrepeso (grupo OW) y obesidad (grupo OB). Se registraron los parámetros de la VFC y las variables antropométricas y hemodinámicas. Resultados: se observó una correlación positiva entre la circunferencia de la cintura y la relación LF/HF en el grupo OW (p = 0,0008; r = 0,6607; r2 = 0,4365) y OB (p = 0,0001; r = 0,8286; r2 = 0,6866). La relacion cintura/altura mostró una diferencia significativa con la HF en los grupos NW, OW y OB. La actividad parasimpática (SDNN, RMSSD, pNN50, HF) de los grupos OB y OW evidenció una disminución de los valores en comparación con el grupo NW. La actividad simpática (LF) en el grupo OB y OW presentó mayores valores que en el grupo NW. La relación LF/HF aumentó del grupo NW hacia el OW y el OB (1,6 ± 0,7; 2,5 ± 1,8 y 3,3 ± 0,7). Conclusiones: el sobrepeso y la obesidad presentan una predominancia de la actividad simpática en reposo. Este aumento de la actividad está representado en el dominio de tiempo y frecuencia de la VFC y, además, presenta una correlación importante con la circunferencia de la cintura y la relación cintura/altura (AU)

Development of a reliable analytical method to determine lipid peroxidation biomarkers in newborn plasma samples.

This paper describes a reliable analytical method based on ultra-performance liquid chromatography coupled to tandem mass spectrometry to determine F2-isoprostanes and other total byproducts (isoprostanes, isofurans, neuroprostanes and neurofurans) as lipid peroxidation biomarkers in newborn plasma samples. The proposed procedure is characterized by a simple sample treatment employing a reduced sample volume (100µL). Also, it shows a high throughput and high selectivity to determine simultaneously different isoprostane isomers in a large number of samples. The reliability of the described method was demonstrated by analysis of spiked plasma samples, obtaining recoveries between 70% and 130% for most of the analytes. Taking into account the implementation of further clinical studies, it was demonstrated the proper sensitivity of the method by means of the analysis of few human newborn plasma samples. In addition to this, newborn piglet plasma samples (n=80) were analyzed observing that the developed method was suitable to determine the analyte levels present in this kind of samples. Therefore, this analytical method could be applied in further clinical research about establishment of reliable lipid peroxidation biomarkers employing this experimental model.

Aplicaciones de la termografía infrarroja en el deporte. Una revisión / Applications of infrared thermography in sports. A review

La termografía infrarroja (TI) registra el calor irradiado de un cuerpo, que es emitido en un rango del espectro electromagnético que la visión humana no es capaz de identificar. La respuesta térmica depende de una serie de ajustes fisiológicos específicos como la homeostasis corporal y salud del deportista, lo cual permite establecer interesantes aplicaciones en el deporte. El objetivo de este trabajo ha sido revisar la literatura en torno a las aplicaciones de la TI en el ámbito del deporte, y proponer las características óptimas del registro en relación al evaluado, las condiciones ambientales y la cámara utilizada. Concluimos que la principal contribución de la TI en el ámbito del deporte es ayudar a identificar signos de lesión antes de que la lesión se produzca, permitiéndonos actuar de manera preventiva durante el proceso de entrenamiento (AU)

Infrared thermography (IRT) records the radiant heat of a body, which is emitted in the range of the electromagnetic spectrum that human vision is not able to identify. The thermal response depends on a number of specific physiological adjustments as body homeostasis and athlete’s health, which allow us to establishing interesting applications in sport. The aim of this study was to review the literature on IRT applications in sports, and to propose the optimal characteristics of the register in terms of the subject, the environmental conditions and the camera used. We conclude that the main contribution of IRT in the field of sport is to help identify signs of injury before it occurs, allowing us to act proactively along the training process (AU)

Ultra high performance liquid chromatography coupled to tandem mass spectrometry determination of lipid peroxidation biomarkers in newborn serum samples.

Byproducts of arachidonic (AA) and docosahexaenoic acid (DHA) oxidation are highly relevant for the study of free radical associated conditions in the perinatal period. Plasma metabolites can provide the clinician with a snapshot of the oxidant status of patients before and after specific clinical interventions (e.g.: supplementation with oxygen). We describe a new andreliable ultra-performance liquid mass spectrometry method to determine F2-isoprostanes and other byproducts (isoprostanes, isofurans, neuroprostanes, neurofurans) in newborn serum samples. Cord blood samples were obtained from severely depressed newborn infants (Apgar score 1 min < 3; arterial cord pH < 7.00), and aliquoted for serum determination and stored at -80 °C. A UHPLC-MS/MS method was employed. It has a series of technical advantages: simple sample treatment; reduced sample volume (100 µL) which is essential for preterm neonates with low circulating blood volume, high throughput of sample analysis (96 samples in less than 24 h) and high selectivity for different isoprostanes isomers. Excellent sensitivity was achieved within limits of detection between 0.06 and 4.2 nmol L(-1), which renders this method suitable to monitoranalyte concentration in newborn samples. The method's precision was satisfactory; with coefficients of variation around 5-12% (intra-day) and 7-17% (inter-day). The reliability of the described method was assessed by analysis of spiked serum samples obtaining recoveries between 70% and 120%. The proposed method has rendered suitable for serum determination for newborn babies at risk of oxygen free radical associated conditions.

The small GTPase Rheb is required for spermatogenesis but not oogenesis.

The process of germ cell development is under the tight control of various signaling pathways, among which the PI3K-Akt-mTOR pathway is of critical importance. Previous studies have demonstrated sex-specific roles for several components of this pathway. In the current study, we aimed to evaluate the role of Rheb, a member of the small GTPase superfamily and a critical component for mTORC1 activation, in male and female gametogenesis. The function of Rheb in development and the nervous system has been extensively studied, but little is known about its role in the germ line. We have exploited genetic approaches in the mouse to study the role of Rheb in the germ line and have identified an essential role in spermatogenesis. Conditional knockout (cKO) of Rheb in the male germ line resulted in severe oligoasthenoteratozoospermia and male sterility. More detailed phenotypic analyses uncovered an age-dependent meiotic progression defect combined with subsequent abnormalities in spermiogenesis as evidenced by abnormal sperm morphology. In the female, however, germ-cell specific inactivation of Rheb was not associated with any discernible abnormality; these cKO mice were fertile with morphologically unremarkable ovaries, normal primordial follicle formation, and subsequent follicle maturation. The absence of an abnormal ovarian phenotype is striking given previous studies demonstrating a critical role for the mTORC1 pathway in the maintenance of primordial follicle pool. In conclusion, our findings demonstrate an essential role of Rheb in diverse aspects of spermatogenesis but suggest the existence of functionally redundant factors that can compensate for Rheb deficiency within oocytes.

Avaliação da temperatura da pele durante o exercício através da termografia infravermelha: uma revisão sistemática / Evaluation of skin temperature during exercise by infrared thermography: a systematic review

Objetivo. Describir los cambios en la temperatura de la piel (Tp) durante el ejercicio registrado por medio de termografía infrarroja. Método. Se realizó una revisión sistemática de la literatura utilizando los términos ejercicio y termografía en las bases de datos de MEDLINE/PubMed, IEEEXplore y SciELO teniendo como principales factores de inclusión, estudios con humanos sin ningún tipo de problema físico o metabólico. Resultados. Tras el proceso de exclusión, fueron seleccionados ocho artículos. La Tp tiende a disminuir al inicio del ejercicio, de manera que su magnitud depende de la duración e intensidad de la actividad propuesta. En ejercicios con carga progresiva se observa una continua reducción de la Tp en comparación con los valores de reposo. Sin embargo, en ejercicios prolongados, la Tp puede variar según la región corporal evaluada con reducción, mantenimiento o incluso un aumento térmico, como sucede en las principales regiones musculares involucradas en el ejercicio. La Tp presenta respuestas específicas durante el ejercicio en función de la región corporal y la necesidad de pérdida de calor. Conclusión. La Tp disminuye en la fase inicial del ejercicio. La manera de realizar el ejercicio de perfil máximo o submáximo determina la respuesta de la Tp. No existe una respuesta homogénea en la Tp entre las diferentes regiones corporales, demostrando así la extremada complejidad del proceso de control de la temperatura central. Consecuentemente, la termografía infrarroja puede ser un valioso instrumento para hacer un seguimiento tanto de la respuesta térmica local como de la general(AU)

Objective. To describe the changes on Skin Temperature (Tsk) during exercise through Infrared Thermography. Method. A systematic review of the current literature was made, using the keywords "exercise" and "thermography" on the database MEDLINE/PubMed, IEEEXplore and SciELO. The research was made including the articles done with healthy humans without any physical or metabolic impairment. Results. After the exclusion process eight articles were selected. Tsk was has the tendency to decrease at the beginning of the exercise, depending on the duration and intensity of the task. In graded exercises a continuous reduction on Tsk was observed. Nevertheless, a bigger duration could lead to different thermal responses depending on the body area: reduction, maintenance or even an increase on the main regions involved on the exercise. Tsk has specific thermal responses depending on the body region and the heat loss necessities. Conclusion. Tsk decreases during the early stages of exercise. The thermal response will depend on the way of doing the maximal or submaximal exercise. There is a heterogeneous thermal response of Tsk between the different body regions, showing the extremely complexity of body temperature control. Therefore, Infrared Thermography could be a valuable tool in order to monitor both the local or the main thermal responses(AU)

Chemosensory event-related potentials in early blind humans.

While the effects of early visual deprivation on auditory and tactile functions have been widely studied, little is known about olfactory function in early blind subjects. The present study investigated the potential effect of early blindness on the electrophysiological correlates of passive odour perception. Event-related potentials (ERPs) were recorded in eight early blind humans and eight sighted controls matched for age, sex and handedness during olfactory stimulation with 2-phenyl ethyl alcohol and trigeminal stimulation with CO2 Latencies, amplitudes and topographical distributions were analysed. As expected, the olfactory and trigeminal ERP components showed normal latencies, amplitudes and topography in both groups. Olfactory stimuli generated responses of smaller amplitude than those observed in response to trigeminal stimulation. In addition, ERP analyses did not reveal any major difference in electrocortical responses in occipital areas in early blind and sighted subjects. These results suggest that passive olfactory and trigeminal stimulation elicit the same electrophysiological responses in both groups, confirming that the neurophysiological correlates of the cross-modal compensatory mechanisms in early blind subjects do not appear during passive olfactory and trigeminal perception.

Ion channels and epilepsy.

The role of voltage-gated and ligand-gated ion channels in epileptogenesis of both genetic and acquired epilepsies, and as targets in the development of new antiepileptic drugs (AEDs) is reviewed. Voltage-gated Na+ channels are essential for action potentials, and their mutations are the substrate for generalised epilepsy with febrile seizures plus and benign familial neonatal infantile seizures; Na+ channel inhibition is the primary mechanism of carbamazepine, phenytoin and lamotrigine, and is a probable mechanism for many other classic and novel AEDs. Voltage-gated K+ channels are essential in the repolarisation and hyperpolarisation that follows paroxysmal depolarisation shifts (PDSs), and their mutations are the substrate for the benign neonatal epilepsy and episodic ataxia type 1; they are new targets for AEDs such as retigabine. Voltage-gated Ca2+ channels are involved in neurotransmitter release, in the sustained depolarisation-phase of PDSs, and in the generation of absence seizures; their mutations are a substrate for juvenile myoclonic epilepsy and the absence-like pattern seen in some mice; the antiabsence effect of ethosuximide is due to the inhibition of thalamic T-type Ca2+ channels. Voltage-gated Cl- channels are implicated in GABA(A) transmission, and mutations in these channels have been described in some families with juvenile myoclonic epilepsies, epilepsy with grand mal seizures on awakening or juvenile absence epilepsy. Hyperpolarisation-activated cation channels have been implicated in spike-wave seizures and in hippocampal epileptiform discharges. The Cl- ionophore of the GABA(A) receptor is responsible for the rapid post-PDS hyperpolarisation, it has been involved in epileptogenesis both in animals and humans, and mutations in these receptors have been found in families with juvenile myoclonic epilepsy or generalised epilepsy with febrile seizures plus; enhancement of GABA(A) inhibitory transmission is the primary mechanism of benzodiazepines and phenobarbital and is a mechanistic approach to the development of novel AEDs such as tiagabine or vigabatrin. Altered GABA(B)-receptor function is implicated in spike-wave seizures. Ionotropic glutamate receptors are implicated in the sustained depolarisation phase of PDS and in epileptogenesis both in animals and humans; felbamate, phenobarbital and topiramate block these receptors, and attenuation of glutamatergic excitatory transmission is another new mechanistic approach. Mutations in the nicotinic acetylcholine receptor are the substrates for the nocturnal frontal lobe epilepsy. The knowledge of the role of the ion channels in the epilepsies is allowing the design of new and more specific therapeutic strategies.

[Advances in the physiopathology of epileptogenesis: molecular aspects]. / Avances en la fisiopatología de la epileptogénesis: aspectos moleculares.

OBJECTIVE: We review the molecular basis of epileptogenesis and the new perspectives in the treatment of epilepsy. DEVELOPMENT: Epileptogenesis are the molecular and cellular events producing the disordered firing of a subpopulation of neurons resulting in periodic seizures. Epilepsies may be due to genetic and acquired factors. Some idiopathic epilepsies are due to mutant genes coding voltage gated sodium and potassium channels, GABAA receptor chloride channels and nicotinic acetylcholine receptor sodium channels. Genetic defects also produce epilepsy secondary to either neuronal developmental or metabolic abnormalities, and may contribute to acquired epilepsy. Events observed in both animal and human acquired epilepsies are an increase in glutamate levels and NMDA receptor sensitivity, selective lost of pyramidal neurons, mossy fibre sprouting and neosinaptogenesis. There is also a reduction in inhibitory control due to lost of GABAergic interneurons, and a decrease in GABA levels and GABAA receptor sensitivity. Hyperexcitability may be also due to reduction in glial ATPasa activity, increase in astrocytes gap junctions, and decrease in extracellular calcium. Chandelier GABAergic interneuron microlesions and an hyperexcitable thalamus are key in spread of partial seizures. Absences may be caused by cortex hyperexcitability and genetic abnormalities in thalamic voltage gated T calcium channels. Brain stem is key in convulsive seizures. The role of voltage gated potassium, sodium and calcium channels, and GABAergic and glutamatergic neurotransmission in epileptogenesis and treatment of epilepsies are revised. The role of other neurotransmitters and neuromodulators, second messengers, and immediate early genes and neurotrophins are also commented. CONCLUSION: Understanding the molecular basis of epileptogenesis should lead to the rational design of drugs both to prevent the development of epilepsy, and minimize hyperexcitability which may be the result of a genetic or acquired disorder.

Avances en la fisiopatología de la epileptogénesis:aspectos moleculares / Advances in the physiopathology of epileptogenesis: molecular aspects

Objetivo. Se revisan las bases moleculares de la epileptogénesis y las nuevas perspectivas en el tratamiento de la epilepsia. Desarrollo. La epileptogénesis son los procesos moleculares y celulares que producen la descarga paroxística de una subpoblación de neuronas que origina crisis espontáneas repetidas. Las epilepsias pueden deberse a factores genéticos y adquiridos. Algunas epilepsias idiopáticas se deben a mutaciones en genes que codifican canales de sodio y potasio voltajedependientes, canales de cloro del receptor GABAA o canales de sodio de receptores nicotínicos. Las alteraciones genéticas producen también epilepsia secundaria a anomalías en el desarrollo o metabolismo neuronal y pueden contribuir al desarrollo de epilepsia adquirida. En las epilepsias adquiridas se observa, tanto en animales como en humanos, un aumento de glutámico y de la sensibilidad de los receptores NMDA, una pérdida selectiva de neuronas piramidales, ramificación de las fibras musgosas y neosinaptogénesis. También se observa disminución del control inhibidor por pérdida de interneuronas gabérgicas, disminución de GABA y disminución de la sensibilidad de los receptores GABAA. La hiperexcitabilidad puede deberse también a una disminución de la actividad de la ATPasa glial, aumento de las uniones intercelulares entre astrocitos y disminución del calcio extracelular. Las microlesiones en las interneuronas gabérgicas en candelabro y un tálamo hiperexcitable son clave en la propagación de la crisis. Las ausencias pueden deberse por hiperexcitabilidad del neocortex y anomalías genéticas en los canales T de calcio voltajedependientes talámicos. El tronco de encéfalo es clave en las convulsiones generalizadas Se revisa el papel de los canales voltajedependientes de potasio. sodio y calcio, así como del sistema gabérgico y glutamérgico en la epileptogénesis y en las posibilidades de tratamiento de las epilepsias. También se comenta el papel de otros neurotransmisores y neuromoduladores, así como de segundos mensajeros, genes inmediatos y neutrofinas. Conclusión. El conocimiento de las bases moleculares de la epileptogénesis puede ayudar al diseño racional de fármacos que prevengan el desarrollo de epilepsia y minimicen la hiperexcitabilidad producida por factores genéticos o adquiridos (AU)

Immunogenicity of a serogroup B meningococcal vaccine against multiple Neisseria meningitidis strains in infants.

BACKGROUND: The serogroup B meningococcus is responsible for the majority of cases of meningococcal disease in temperate countries. Infants and young children <2 years of age are at greatest risk of disease. This study assessed the immunogenicity in infants of a serogroup B meningococcal outer membrane protein vaccine that has been used extensively in disease outbreaks in Cuba and several Latin American countries and shown to be efficacious in teenagers. METHOD: One hundred five healthy infants entering the routine vaccination schedule in Havana, Cuba, were given either 2 or 3 doses of the serogroup B meningococcal vaccine VA-MENGOC-BC at 3.5, 5.5 and 7.5 months of age. Immune response pre- and postvaccination was determined by the conventional serum bactericidal assay (SBA), a more sensitive novel whole blood bactericidal assay (WBA) and immunoglobulin ELISA. RESULTS: In 52 and 46% of infants >50% killing of the vaccine serogroup B strain (B:4:P1.19,15) and serogroup C strain, respectively, was demonstrated by the WBA after 2 doses of the vaccine. Serum bactericidal activity (4-fold increase in titer) was induced in only 27% against the vaccine serogroup B strain and in 14% against the serogroup C strain. The changes in WBA and SBA were mirrored by the serogroup B and C immunoglobulin ELISA. Cross-reactive immunogenicity against other (heterologous) serogroup B strains was demonstrated for one of the four further strains assessed by WBA. By age 16 to 18 months SBA, WBA and ELISA responses had declined considerably. The addition of a third dose of vaccine did not appear to significantly influence immunogenicity at 17 months of age. CONCLUSION: The serogroup B outer membrane protein vaccine VA-MENGOC-BC induces a demonstrable immune response in infants against both the serogroup B vaccine strain and against a serogroup C strain. Cross-reactive immunogenicity against other (heterologous) serogroup B strains is limited in this age group.

[Hereditary neuropathy with liability to pressure palsies in childhood]. / Neuropatía hereditaria con susceptibilidad a la presión en la infancia.

INTRODUCTION: The diagnosis of hereditary neuropathy with liability to pressure palsies during childhood is uncommon, since the disorder is still asymptomatic and the clinical features are nonspecific. CLINICAL CASE: We present a case of hereditary neuropathy with liability to pressure palsies in a seven and a half year old girl with deteriorating clinical findings of 'pies cavos', scoliosis, difficulty in walking and torticollis, but without episodes of paralysis. On the electroneurographic (ENG) study numerous anomalies of sensory and motor nerve conduction were seen, especially at sites of nerve trapping, both in the patient and in her mother; genetic study showed deletions of chromosome 17p11.2 in both. CONCLUSIONS: Hereditary neuropathy with liability to pressure palsiesin childhood may follow a course which does not show typical pressure palsies. Therefore the ENG study is very important for detection of the disorder. Torticollis, as well as pies cavos and scoliosis, is frequently seen in neuropaediatric clinics, so the possibility, as in the case reported, that this is part of the clinical spectrum of hereditary neuropathy with liability to pressure palsies should be considered. With diagnostic confirmation on genetic studies, nerve biopsy is not necessary.

[Ion channels and epilepsy]. / Canales iónicos y epilepsia.

OBJECTIVE: We review the role of ligand-gated ion channels and voltage-gated ion channels as a substrate for the epileptogenesis and as targets in the development of new antiepileptic drugs. DEVELOPMENT: Voltage-gated calcium channels are involved in the release of neurotransmitters, in the sustained depolarization-phase of paroxysmal depolarisation shifts (PDS), and in the generation of absences; they are also the genetic substrate of generalized tonic-clonic convulsions and absence-like pattern seen in some mice. The voltage-gated potassium channel has been implicated in the hyperpolarization-phase of PDS, it is the genetic substrate of the long QT syndrome, benign neonatal epilepsy, and episodic ataxia/myokymia syndrome, and it is the target of some antiepileptic drugs which activate this channel. The voltage-gated sodium channel is the target of most of the classical and newer antiepileptic drugs; it is also the substrate for generalized epilepsy with febrile seizures plus. The sodium channel of the nicotinic acetylcholine receptor is the substrate for nocturnal frontal lobe epilepsy. The sodium channels of the AMPA and KA glutamate receptors have been proposed as substrate for juvenile absence epilepsy and are a target for new antiepileptic drugs which inhibit it. The calcium channel of the NMDA glutamate receptor has been implicated in the sustained depolarization-phase of PDS and in epileptogenesis after kindling and is a main target for new antiglutamate drugs. The chloride channel of the GABAA receptor is responsible for the rapid hyperpolarization of PDS, it has been involved in epileptogenesis after kindling, it may be the substrate of the Angelman syndrome, and it is activated by many classical and new antiepileptic drugs. CONCLUSION: The knowledge of the role of the ion channels in the epilepsies is allowing the design of new and more specific therapeutic strategies.

Neuropatía hereditaria con susceptibilidad a la presión en la infancia / Hereditary neuropathy with liability to pressure palsies in childhood

Introducción. El diagnóstico de la neuropatía hereditaria con parálisis por susceptibilidad a la presión (NHPP) es bastante inusual durante la edad infantil, por ser un padecimiento aún asintomático o por su presentación clínica inespecífica. Caso clínico. Presentamos el caso de NHPP en una niña de 7 años y medio con un cuadro clínico de pies cavos, escoliosis, alteraciones en la marcha y tortícolis de evolución desfavorable, sin episodios de parálisis. En el estudio electroneurográfico (ENG) se detectaron numerosas anomalías en la conducción nerviosa motora y sensitiva, sobre todo en sitios de atrapamiento nervioso, tanto en la propositus como en la madre. El estudio genético puso de manifiesto la deleción 17p11.2 en ambas. Conclusiones. La NHPP en la infancia puede cursar sin las típicas parálisis por presión, por lo que el estudio ENG resulta especialmente esencial para la detección de la enfermedad. Al igual que los pies cavos o la escoliosis, el tortícolis es un hallazgo frecuente en la consulta neuropediátrica, por lo que debe considerarse la posibilidad, como en el caso aquí descrito, de que pueda formar parte del espectro clínico de la NHPP. Con la confirmación diagnóstica por medio del estudio genético puede obviarse la biopsia nerviosa (AU)

Canales iónicos y epilepsia / Ion channels and epilepsy

Objetivo. Revisar el papel de los canales iónicos dependientes de voltaje y ligados a receptores en la fisiopatología de las epilepsias y en el desarrollo de nuevos antiepilépticos. Desarrollo. Los canales de calcio dependientes de voltaje intervienen en la liberación de neurotransmisores, en la despolarización sostenida de los cambios paroxísticos de despolarización y en la génesis de las ausencias, y son el sustrato de las convulsiones tonicoclónicas generalizadas y ausencias presentes en algunos ratones. El canal de potasio dependiente de voltaje participa en la hiperpolarización que sigue a los cambios paroxísticos de despolarización, es causante del síndrome del QT largo, la epilepsia benigna neonatal, la ataxia episódica con mioquimia y es el lugar de acción de algunos antiepilépticos que activan este canal. El canal de sodio dependiente de voltaje es el lugar de acción de la mayor parte de los antiepilépticos clásicos y nuevos, así como el sustrato de la epilepsia generalizada y las convulsiones febriles plus. El canal de sodio del receptor nicotínico es el sustrato de la epilepsia nocturna del lóbulo frontal. Los canales de sodio de los receptores AMPA y KA son sustrato de la epileptogénesis y los lugares de acción de nuevos antiepilépticos anti-AMPA y anti-KA. El canal de calcio del receptor NMDA es responsable de la despolarización lenta de los cambios paroxísticos de despolarización, es sustrato de la epileptogénesis y desempeña un papel relevante en el desarrollo de nuevos antiepilépticos. El canal de cloro del receptor GABAA es responsable de la fase rápida de hiperpolarización que sigue a los cambios paroxísticos de despolarización, es sustrato de la epileptogénesis, puede serlo del síndrome de Angelman y es el lugar de acción de algunos antiepilépticos clásicos y nuevos. Conclusión. El descubrimiento del papel de los canales iónicos en las epilepsias permite diseñar nuevas estrategias terapéuticas más específicas (AU)

[Epileptic signs of metabolic origin]. / Manifestaciones epilépticas de causa metabólica.

INTRODUCTION: It is very difficult to identify metabolic causes of epileptic crises. This is partly because metabolic disorders are not fully understood and partly because the complementary tests required for their identification can be undertaken only in a few laboratories. DEVELOPMENT: We describe the characteristics of the metabolic disorders which may most frequently lead to epileptic crises occurring during the neonatal period, the first year of life, between the ages of one and six years and between six and fifteen years of age. We also emphasize the findings which may help in orientation towards diagnosis of these metabolic disorders, and the complementary tests required for confirmation.

[Diagnostic focus on the child with myoclonic seizures in isolation or associated with other types of seizures]. / Enfoque diagnóstico del nino con crisis mioclónicas aisladas o asociadas o otros tipos de crisis.

Myoclonus may be observed in children with mild or severe epileptic syndromes. Both types are seen at characteristic ages, together with other factors: aetiology, family history, hereditary pattern, effect on psychomotor development and EEG-EMG findings. In children with progressive or degenerative encephalopathies and myoclonus, better known as progressive myoclonic epilepsy, there are also specific clinical data, together with biological and genetic markers which permit identification. The most specific clinical characteristics of each of these clinical pictures are described, as are the complementary tests which permit confirmation of these diagnoses.

Ultrasonographic diagnosis of an adrenocortical carcinoma in a dog.

The ultrasonographic findings in a nine-year-old female Drahthaar with an adrenocortical carcinoma of the left adrenal gland are described. Examination of the abdomen revealed a large, hypoechoic mass cranial to the left kidney. Areas of calcification inside the mass and the lateral displacement of the caudal vena cava were assessed. The right adrenal gland was thinner and smaller than normal. Several target-like lesions were present in the hepatic parenchyma. A moderate amount of haemorrhagic abdominal fluid was also present. The ultrasonographic findings were consistent with this type of adrenal neoplasia which produces atrophy of the contralateral gland and frequently metastasises to the liver. The ultrasonographic diagnosis of adrenocortical carcinoma was confirmed by histopathological examination.