A new mass spectrometry-based method for the quantification of histones in plasma from septic shock patients.

The aim of this study was to develop a novel method to detect circulating histones H3 and H2B in plasma based on multiple reaction monitoring targeted mass spectrometry and a multiple reaction monitoring approach (MRM-MS) for its clinical application in critical bacteriaemic septic shock patients. Plasma samples from 17 septic shock patients with confirmed bacteraemia and 10 healthy controls were analysed by an MRM-MS method, which specifically detects presence of histones H3 and H2B. By an internal standard, it was possible to quantify the concentration of circulating histones in plasma, which were significantly higher in patients, and thus confirmed their potential as biomarkers for diagnosing septic shock. After comparing surviving patients and non-survivors, a correlation was found between higher levels of circulating histones and unfavourable outcome. Indeed, histone H3 proved a more efficient and sensitive biomarker for septic shock prognosis. In conclusion, these findings suggest the accuracy of the MRM-MS technique and stable isotope labelled peptides to detect and quantify circulating plasma histones H2B and H3. This method may be used for early septic shock diagnoses and for the prognosis of fatal outcomes.

Evaluación de características psicológicas implicadas en el desempeño de jóvenes gestores deportivos / Psychological characteristics assessment involved in youth sports managers’ performance

El propósito de este estudio ha sido evaluar las características psicológicas implicadas en el desempeño del colectivo de jóvenes gestores deportivos. Para la identificación de las variables psicológicas fue utilizado un procedimiento analítico de naturaleza inductiva donde los jóvenes participantes informaron de su experiencia como gestores deportivos en un formato de grupos de discusión. La información recogida sirvió como base para la elaboración del Cuestionario de Competencia Personal de Jóvenes Gestores Deportivos (CPJGD). Este instrumento presenta una alta consistencia interna (α = 0,72) y está compuesto por 14 items distribuidos en tres factores: compromiso con el rol de gestor deportivo; interés controlado; y persistencia hacia un objetivo. Finalmente se argumentan las implicaciones de los resultados de este estudio en la formación permanente y capacitación profesional de este colectivo de jóvenes gestores deportivos (AU)

The purpose of this study was to evaluate the psychological characteristics involved in the performance of a group of young sport managers. To identify the psychological variables, an analytical procedure of an inductive nature was used, where young participants reported their experience as sport managers in a discussion group context. The information gathered served as basis for the development of the questionnaire of «personal competence of young sport managers». This instrument has got a high internal consistency (α = 0.72) and comprises 14 items distributed in three factors: commitment to the role of «dynamicers»; controlled interest; and persistence toward a goal. Eventually, we discussed the implications of the results of this study on lifelong learning and training of this group of young sport managers (AU)

Síndrome valproico fetal / Fetal valproate syndrome

El síndrome valproico fetal se caracteriza por la asociación de anomalías craneofaciales, malformaciones congénitas a distintos niveles y retraso del desarrollo. Inicialmente la ingestión de ácido valproico durante el embarazo se relacionó con la aparición de defectos del tubo neural en el neonato. En la actualidad, sigue sin conocerse el mecanismo íntimo por el que este fármaco daña el feto; no obstante, se han descrito todo un espectro de malformaciones que constituyen el síndrome valproico fetal -en 1984 Di Liberti y Hanson definieron sus características y es en 1988 cuando se considera un síndrome- (AU)

[Clinical and prognostic heterogeneity in Aicardi's syndrome: a description of two cases]. / Heterogeneidad clínica y pronóstica en el síndrome de Aicardi: a propósito de dos casos.

INTRODUCTION: Aicardi's syndrome is characterized by infantile spasms, agenesis of the corpus callosum and ocular lesions. Clinically it presents as severe mental retardation, severe limitation of motor development and of language, with a prognosis of survival for only a few months or years. We present two new cases of this uncommon syndrome and describe the heterogeneity of its clinical and prognostic severity. CLINICAL CASES: Case 1. A ten-month old patient had flexion spasms of the limbs at the age of 4 months, bilateral corioretinal lesions and generalized hypoplasia of the corpus callosum. During the clinical course of the disorder, the epileptic crises were controlled, there was mental retardation, the head was held steady and the baby could sit. Case 2. A nine year old patient had had flexion spasms when aged 2 months, had bilateral retinal lesions and generalized hypoplasia of the corpus callosum. During his clinical course the epileptic crises were controlled, there was severe mental retardation, the patient could pay attention and collaborate, articulate single words, walk on his own and manipulate objects. CONCLUSION: Aicardi's syndrome should be considered to be a syndrome in which the clinical findings and prognosis are heterogeneous, as seen from new cases with less clinical and functional limitation than the patients first described.

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.

In this report, we describe seven new patients with a severe deficiency of glutaryl-CoA dehydrogenase in cultured skin fibroblasts. Three of the patients studied excreted high levels of glutaric acid. The remaining four patients presented a lack of significant glutaric aciduria. However, glutaric acid was found in increased levels in CSF. In both groups of patients, the urine glutaric acid levels were not related to their metabolic condition at the time of sampling. Hypocarnitinemia was a common finding. Some patients also showed defects on respiratory chain complexes in muscle biopsy. Only one patient has a normal psychomotor development. The other six patients are severely handicapped despite the attempts of different therapies. In patients with progressive neurological deterioration with dystonia and cerebellar signs associated with temporal lobe atrophy and bilateral basal ganglia damage on MRI, a glutaric aciduria type I (GA I) should always be investigated. The presence of glutaric acid in body fluids, especially in CSF, as well as plasma carnitine levels, should be determined. These procedures can lead to the diagnosis of glutaric aciduria type I.

[Wallenberg syndrome in childhood secondary to the striking by lightening]. / Síndrome de Wallenberg en la infancia secundario a electrofulguración.

Wallenberg's Syndrome (WS) is exceptional in childhood. We present a case of a 10 year-old girl with a WS caused by an embolism in the right lateral portion of the medulla secondary to an electrofulguration, but with an unusual progressive outcome, developing clinical signs of medial medullar injury, leading even into a respiratory failure 30 days after admittance. She only became stable after surgical lesion decompression. There was no evidence of vascular malformation, finding only a great oedema. The pathology only showed changes compatible with brain infarction. This case makes again clear the superiority of MRI upon CT-scan to diagnose a WS. We think that the unusual progression of the lesion was due to great medullar oedema found on surgery, involving the brain regional flow.