Diagnosis of multiple sclerosis using optical coherence tomography supported by explainable artificial intelligence.

BACKGROUND/OBJECTIVES: Study of retinal structure based on optical coherence tomography (OCT) data can facilitate early diagnosis of relapsing-remitting multiple sclerosis (RRMS). Although artificial intelligence can provide highly reliable diagnoses, the results obtained must be explainable. SUBJECTS/METHODS: The study included 79 recently diagnosed RRMS patients and 69 age matched healthy control subjects. Thickness (Avg) and inter-eye difference (Diff) features are obtained in 4 retinal layers using the posterior pole protocol. Each layer is divided into six analysis zones. The Support Vector Machine plus Recursive Feature Elimination with Leave-One-Out Cross Validation (SVM-RFE-LOOCV) approach is used to find the subset of features that reduces dimensionality and optimises the performance of the classifier. RESULTS: SVM-RFE-LOOCV was used to identify OCT features with greatest capacity for early diagnosis, determining the area of the papillomacular bundle to be the most influential. A correlation was observed between loss of layer thickness and increase in functional disability. There was also greater functional deterioration in patients with greater asymmetry between left and right eyes. The classifier based on the top-ranked features obtained sensitivity = 0.86 and specificity = 0.90. CONCLUSIONS: There was consistency between the features identified as relevant by the SVM-RFE-LOOCV approach and the retinotopic distribution of the retinal nerve fibres and the optic nerve head. This simple method contributes to implementation of an assisted diagnosis system and its accuracy exceeds that achieved with magnetic resonance imaging of the central nervous system, the current gold standard. This paper provides novel insights into RRMS affectation of the neuroretina.

Implantación de las competencias: percepciones de directivos y docentes de educación física / Implementation of key competences: perceptions of headmasters and physical education teachers

El objetivo del estudio fue conocer las percepciones que tienen sobre la implantación de las Competencias Básicas (CCBB) los equipos directivos y los docentes de Educación Física (EF). Participaron todos los centros de Educación Secundaria de la capital de Burgos (España). Se empleó una metodología mixta, utilizando un cuestionario validado para obtener datos de los directores (N=30) y de los jefes de departamento de EF (N=30) y un estudio de caso único. Los equipos directivos consideran que éstas potencian el aprendizaje del alumnado y favorecen la evaluación. Los docentes valoran la variedad de alternativas en el aula mediante el uso de metodologías cooperativas. La menor edad de los equipos directivos es un factor que influye en su percepción positiva, mientras que la menor experiencia es el factor determinante de esta percepción entre los docentes. El estudio de caso refleja que los profesores de EF de un mismo departamento trabajan de manera diferente las CCBB (AU)

The purpose was to assess headmasters and Physical Education teachers’ perceptions on the implementation of Key Competencies (KKCC). All the secondary schools located in Burgos (Spain) agreed to participate. A mixed research design was used. On one hand, an expert validated questionnaire was used to obtain data from all the headmasters (N=30) and all the heads of the Physical Education departments (N=30); on the other hand, a single case study was conducted in one of the schools. Headmasters highlighted that KKCC foster students’ learning and help assess the whole learning process. Teachers underlined that the KKCC promote the use of different learning methods in class and they believed that cooperative learning strategies are needed. Age influenced headmasters’ positive perception on KKCC, and teaching experience influenced teachers’ perceptions. The single case study showed that PE teachers in the same department work differently the KKCC (AU)

Reaction time and rhythm of movement in Huntington's disease.

Huntington disease (HD) is characterized by several hyperkinesias though motor slowness is also another cardinal in this disease. In addition, self-paced timing movements are also disturbed in HD, which may also affect several rhythmic voluntary movements such as gait. Motor slowness can be measured with clinical scales such as the Unified Huntington's Disease Rating Scale (UHDRS) and timed tests, but also with the reaction time (RT) paradigm. We evaluated RT as a measure of motor slowness in 30 patients with genetically confirmed Huntington's disease and 24 control subjects. We also evaluated self-paced timing precision (SPTP) by applying a simple software program devised by our group. Clinical assessment was performed according to the UHDRS, including motor section, total functional capacity (TFC) and cognitive section (verbal fluency test, symbol digit, and Stroop test) The mean values obtained for RT and SPTP were statistically different in HD as compared with those from controls (p<0.0005). We observed a statistically significant correlation between RT and TFC scores (rs=-0.57, p<0.005 Spearman's correlation) and also between SPTP values and TFC scores (rs=-0.40, p<0.05 Spearman's correlation). In addition, RT and SPTP significantly correlated with cognitive scores (including digit symbol, verbal fluency and Stroop tests). Simple tests such as RT and SPTP provide an objective evaluation of motor impairment in HD yielding measures that correlate with clinical assessment and functional disability.

MAOA genotype, social exclusion and aggression: an experimental test of a gene-environment interaction.

In 2002, Caspi and colleagues provided the first epidemiological evidence that genotype may moderate individuals' responses to environmental determinants. However, in a correlational study great care must be taken to ensure the proper estimation of the causal relationship. Here, a randomized experiment was performed to test the hypothesis that the MAOA gene promoter polymorphism (MAOA-LPR) interacts with environmental adversity in determining aggressive behavior using laboratory analogs of real-life conditions. A sample of 57 Caucasian male students of Catalan and Spanish origin was recruited at the University of Barcelona. Ostracism, or social exclusion, was induced as environmental adversity using the Cyberball software. Laboratory aggression was assessed with the Point Subtraction Aggression Paradigm (PSAP), which was used as an analog of antisocial behavior. We also measured aggressiveness by means of the reduced version of the Aggression Questionnaire. The MAOA-LPR polymorphism showed a significant effect on the number of aggressive responses in the PSAP (F(1,53) = 4.63, P = 0.03, partial η(2) = 0.08), as well as social exclusion (F(1,53) = 8.03, P = 0.01, partial η(2) = 0.13). Most notably, however, we found that the MAOA-LPR polymorphism interacts significantly with social exclusion in order to provoke aggressive behavior (F(1,53) = 4.42, P = 0.04, partial η(2) = 0.08), remarkably, the low-activity allele of the MAOA-LPR polymorphism carriers in the ostracized group show significantly higher aggression scores than the rest. Our results support the notion that gene-environment interactions can be successfully reproduced within a laboratory using analogs and an appropriate design. We provide guidelines to test gene-environment interactions hypotheses under controlled, experimental settings.

Paresia de III par craneal y afectación troncoencefálica por difusión intradural de anestesia retrobulbar / III cranial nerve palsy and brainstem disfunction following retrobulbar anaesthesia

No disponible

[Dopaminergic stimulation in the non-motor symptoms of Parkinson's disease]. / Estimulación dopaminérgica en los trastornos no motores de la enfermedad de Parkinson.

INTRODUCTION AND DEVELOPMENT: The non-motor symptoms of Parkinson's disease have a great impact in terms of quality of life. They are frequently underdiagnosed and clinical experience suggests that not only is dopamine therapy ineffective but that in many cases it is also responsible for the appearance of some of these symptoms. Different studies have drawn attention to the involvement of the dopaminergic pathways in the pathogenesis of some non-motor symptoms. It has been observed that they can undergo fluctuations in relation to dopaminergic stimulation, generally in wearing off states, while displaying a significant correlation with motor fluctuations and a clinical response with continuous dopaminergic therapy. CONCLUSIONS: Although recent reviews offer insufficient evidence for treatment of non-motor symptoms with dopaminergic therapy, involvement of the dopaminergic pathways in the aetiopathogenesis of some of these disorders and the clinical observation that such symptoms undergo fluctuations in relation to pulsatile dopaminergic stimulation may lead us to reconsider the possible role of dopaminergic therapy in the treatment of these symptoms.

Linfangioma quístico sin otras anomalías asociadas / Cystic lymphangioma without associated anomalies

El higroma, o linfangioma quístico, se debe a una anomalía del sistema linfático producida por la obstrucción del drenaje de los sacos linfáticos cervicales al sistema venoso yugular. Habitualmente se localiza en la región cervical posterior o posterolateral y contiene múltiples tabiques. Entre el 20 y el 40% de los casos se asocia a normalidad cromosómica; el resto de los casos se asocia a diversas aneuplodías o malformaciones. El diagnóstico diferencial incluye edema nucal, meningocele, encefalocele, teratoma cervical, seudomembranas, hemangioma y quiste placentario subcorial.Su incidencia es de uno cada 1.775 a 6.000 nacidos vivos. La tasa de aneuploidía asociada al linfangioma quístico diagnosticado prenatalmente es del 45 al 60% (principalmente síndrome de Turner y síndrome de Down). También se ha observado asociación a otros síndromes polimalformativos. El resultado fetal es incierto y varía según los estudios revisados.A continuación se presenta el caso de un linfangioma quístico inusual por varios motivos: su gran tamaño, la ausencia de otras anomalías morfológicas y de aneuploidías, la joven edad de la madre y el desarrollo morfológico posnatal normal (AU)

Hygroma or cystic lymphangioma is due to an obstruction of jugular lymph sac drainage to the jugular venous system. The most common localization is the posterolateral neck region. These lesions are usually multiseptated. Between 20% and 40% of affected individuals have a normal karyotype and the remainder show diverse aneuploidies and/or malformations. The differential diagnosis includes nuchal edema, meningocele, encephalocele, cervical teratoma, pseudomembranes, hemangioma and subchorial placental cyst.The incidence of cystic lymphangioma has been reported to be 1/6,000–1,775 live-newborns. The rate of aneuploidy associated with prenatally diagnosed cases are between 45% and 60% (mainly Turner and Down syndromes). Some cases are associated with other polymalformation syndromes. Fetal outcome is uncertain and differs among studies.We present the case of a fetal cystic lymphangioma that is unusual for several reasons: its huge size, the absence of any other morphological abnormalities and aneuploidies, the young age of the mother, and the normal morphological postnatal growth (AU)

[The development of antisocial behavior: psychobiological and environmental factors and gene-environment interactions]. / Desarrollo del comportamiento antisocial: factores psicobiológicos, ambientales e interacciones genotipo-ambiente.

INTRODUCTION: Antisocial behavior is a complex phenomenon with strong implications in neurology and psychiatry. In order to study the ontogenetic development of antisocial behavior, we must check for the existence of physiological mechanisms related to it, and to understand its environmentally-modulated functioning. AIM: To review the state-of-the-art of the development of antisocial behavior, and especially, of the interaction between environmental and genetic factors. DEVELOPMENT: Recent research has highlighted certain brain alterations linked to violent behavior, either at structural, or functional or biochemical levels. Genetic research has also made some advances in this field, discovering some genes--i.e. monoamineoxidase A (MAOA)--related to antisocial behavior. However, the importance of environmental factors in its development must not be left behind. Recent studies have shown that individuals carrying a low transcriptional activity allele of the MAOA gene, and that also suffered severe maltreatment are more prone to antisocial behavior. This interaction is biologically relevant, as there are underlying biological mechanisms that may be able to explain the ethiopathogeny of antisocial behavior. CONCLUSIONS: Although the works herein presented pioneered the field, they are limited by the fact that all the reviewed variables are associated to antisocial behavior, but they lack direct causal evidence of their effects on antisocial behavior. Undoubtedly, future research on psychobiological mechanisms and the understanding of their environmental modulation will help finding therapeutic targets and preventive strategies for antisocial behavior.

Desarrollo del comportamiento antisocial: factores psicobiológicos, ambientales e interacciones genotipo-ambiente / The deelopment of antisocial behavior: psychobiological and environmental factors and gene-environment interactions

Resumen. Introducción. El comportamiento antisocial es un fenómeno amplio y complejo con profundas implicaciones en neurología y psiquiatría. Para poder enfrentarse a una tarea tan compleja como estudiar el desarrollo ontogenético del comportamiento antisocial hace falta comprobar la existencia de mecanismos fisiológicos relacionados con él y entender cómo los factores ambientales pueden modular su funcionamiento. Objetivo. Revisar los conocimientos que tenemos acerca del desarrollo del comportamiento antisocial, y de la interacción entre factores ambientales y genéticos. Desarrollo. Investigaciones recientes han puesto de relieve alteraciones cerebrales que están asociadas al comportamiento violento, tanto desde el punto de vista estructural como funcional o bioquímico. La investigación genética también ha realizado avances en este terreno, como la detección de algunos genes –como el de la monoaminooxidasa A (MAOA)– relacionados con el comportamiento antisocial. Sin embargo, no debemos olvidar los factores ambientales en el desarrollo de éste. Estudios recientes indican que aquellos individuos portadores de una versión poco funcional del gen MAOA y que reciben un grave maltrato son más proclives al comportamiento antisocial. La significación biológica de esta interacción es relevante, ya que ciertos mecanismos biológicos subyacentes pueden explicar la etiopatogenia del comportamiento antisocial, aunque sea a un nivel muy elemental. Conclusiones. Los estudios mostrados, a pesar de ser pioneros, tienen una gran limitación, y es que a pesar de las evidencias de que todas las variables presentadas están asociadas al comportamiento antisocial, no hay una evidencia causal directa sobre su efecto en éste último. Sin duda, el estudio futuro de los mecanismos psicobiológicos y la comprensión de su modulación ambiental ofrecerán dianas terapéuticas y de prevención para el abordaje del comportamiento antisocial en todas sus vertientes (AU)

Summary. Introduction. Antisocial behavior is a complex phenomenon with strong implications in neurology and psychiatry. In order to study the ontogenetic development of antisocial behavior, we must check for the existence of physiological mechanisms related to it, and to understand its environmentally-modulated functioning. Aim. To review the state-of-the-art of the development of antisocial behavior, and especially, of the interaction between environmental and genetic factors. Development. Recent research has highlighted certain brain alterations linked to violent behavior, either at structural, or functional or biochemical levels. Genetic research has also made some advances in this field, discovering some genes –i.e. monoamineoxidase A (MAOA)– related to antisocial behavior. However, the importance of environmental factors in its development must not be left behind. Recent studies have shown that individuals carrying a low transcriptional activity allele of the MAOA gene, and that also suffered severe maltreatment are more prone to antisocial behavior. This interaction is biologically relevant, as there are underlying biological mechanisms that may be able to explain the ethiopathogeny of antisocial behavior. Conclusions. Although the works herein presented pioneered the field, they are limited by the fact that all the reviewed variables are associated to antisocial behavior, but they lack direct causal evidence of their effects on antisocial behavior. Undoubtedly, future research on psychobiological mechanisms and the understanding of their environmental modulation will help finding therapeutic targets and preventive strategies for antisocial behavior (AU)

Valoración del riesgo de violencia contra la pareja por medio de la SARA / No disponible

La violencia contra la pareja, especialmente la ejercida por el hombre sobre la mujer, es una de las formas más graves de violencia interpersonal, presenta una elevada prevalencia y numerosos interrogantes sobre su génesis, desarrollo y control. En la actualidad es una preocupación social que demanda una importante inversión en medidas socio-sanitarias para combatir sus efectos en las víctimas y también requiere múltiples recursos jurídico-penales dedicados a su erradicación. Siendo un fenómeno prácticamente universal, claramente asociado a los papeles y roles sociales de género, se ha convertido en uno de los principales motivos de malestar y sufrimiento de las mujeres que la padecen así como de sus familias. Después de una breve discusión sobre la delimitación de este fenómeno y de una consideración epidemiológica, se presentará una guía de valoración del riesgo de violencia contra la pareja, la SARA, diseñada para asistir en la toma de decisiones pronósticas que realizan los distintos profesionales que se enfrentan cada día a esta forma de violencia.La SARA (Spouse Abuse Risk Assessment) fue inicialmente diseñada para identificar el riesgo de violencia física y sexual contra la pareja en el contexto familiar y doméstico en el año 1995. Se ha adaptado al castellano (Andrés Pueyo y Lopez, 2005) y se ha realizado una primera comprobación de su adecuación al contexto jurídico-criminológico español. Así mismo se ha contrastado su capacidad predictiva en situaciones de violencia grave y reiterada contra la pareja, demostrando una utilidad comparable, en su rendimiento a otros países en el que la SARA tiene una mayor tradición de uso profesional

The intimate partner violence is one of the most serious type of interpersonal violence, it shows a high prevalence and several questions on their génesis and development. At the present time it is a social concern with their control that demands an important investment in socio-sanitary measures to combat their effects in the victims and it also requires criminal multiple resources for their elimination. Being a universal phenomenon, clearly associated to the social gender roles, its has transformed into one of the main threats of the women’s health, suffering as well as their families. After a brief discussion about the delimitation of this phenomenon in an epidemiological view there’s show up a guide for assessment of the risk of violence against the partner, the SARA, designed to help different professionals in the taking of decisions about the future of violence against the partner.The SARA (Spouse Abuse Risk Assessment) was initially designed to identify the risk of physical and sexual violence against the partner in the family and domestic violence in 1995. It has adapted to spanish (Andrés Pueyo and López, 2005) and it has been carried out a first empirical study for to validate to the profesional use in Spain. Likewise their predictive capacity has been contrasted in situations of serious and reiterated violence against the partner, the SARA shows a good and comparable predictive capacity as other countries in which SARA have a more long tradition of professional use (AU)

La predicción de la violencia / The prediction of violence

No disponible

Is the Mnr locus of Triticeae species the same as the Ndh and Dia loci?

The menadione reductase (MNR), the nicotinamide adenine dinucleotide dehydrogenase (NDH) and diaphorase (DIA) isozymes were studied in the allohexaploid Triticum aestivum cv "Chinese Spring" and in five diploid Triticeae species. The Mnr1, Ndh3and Dia1 loci were located on the chromosome arms 3AL, 3BL and 3DL of T. aestivum, respectively. These loci were also located on the 3H chromosome of Hordeum vulgare cv "Betzes", the 3L chromosome of Aegilops longissima and the 6RL chromosome arm of Secale cereale cv "Imperial". The chromosomal location results together with the segregation studies support a tetrameric behaviour of the MNR1, NDH3 and DIA1 isozymes. The Ndh1 and Dia3 loci were located on homoeologous group 4 showing a monomeric behaviour. The chromosomal locations and linkage data of the Mnr, Ndh and Dia loci suggest that Mnr1=Ndh3=Dia1; Ndh1=Dia3 and Ndh2=Dia2.

Personalidad y comportamiento penitenciario / No disponible

Las variables de personalidad que están relacionadas con el comportamiento delictivo han sido identificadas consistentemente y replicadas en numerosos estudios. Entre éstas las más importantes son la impulsividad, la temeridad, la empatía y la hostilidad, además de la inteligencia y la estabilidad emocional. En este estudio tratamos de comprobar qué relación tienen algunas de aquellas variables con la conducta de los reclusos y en su adaptación al medio penitenciario. Se analizaron todas las variables antes mencionadas excepto la inteligencia. Nuestro objetivo era generalizar los resultados obtenidos por la investigación de factores de personalidad y conducta antisocial en el caso de los reclusos de larga duración. Participaron en el estudio un grupo de reclusos condenados a distintas penas de prisión por la comisión de múltiples delitos y/o por delitos graves. Se analizó el expediente y el registro penitenciario de cada uno de ellos y se relacionó con los rasgos de personalidad antes citados. Los resultados evidenciaron que el mejor predictor de las dificultades de adaptación al medio carcelario son las puntuaciones en Agresividad-Hostilidad. También la Impulsividad y la Temeridad aparecieron estrechamente relacionadas con las variables de conducta penitenciaria. Por último, se debe destacar la importancia de controlar la Deseabilidad Social en los estudios que incluyen reclusos analizados durante el cumplimiento de su condena (AU)

Personality dimensions and prison adjustement. The personality traits related with the antisocial behavior has been consistently identified at numerous and previous research. The more relevants personality traits are impulsivity, venturosemeness, empathy, hostility, emotional stability and intelligence. In this study we treat to test the role of personality traits, intelligence not included, in the inmate behaviour in terms of his adaptation to prison to generalise the main results obtained by the investigation of personality factors and crime. A group of inmates condemned to distinct sentences of confinement because multiple or serious offences, most in terms of long reclusion, was analysed of each inmate and compared with the personality traits before cited. The results show that the best predictor of the difficulties of adaptation to the penitentiary conditions was the Agression_hostility scores. Also Impulsivity and Venturosemeness is more related with the compliment of sentence indexes. One relevant observation in this kind of samples (AU)

Empleo de olanzapina en el tratamiento de una anorexia nerviosa en un varón adolescente / Use of Olanzapina for the treatment of anorexia nervosa in a male adolescent

Los estudios no apoyan la eficacia de los neurolépticos como tratamiento estándar para la anorexia nerviosa. Se conoce poco acerca de la potencial efectividad de la olanzapina en el tratamiento de la anorexia nerviosa. Se presenta un caso clínico ilustrativo con completa remisión sintomática en un varón adolescente mediante olanzapina combinada con psicoterapia sistémica. Es esencial más investigación para suministrar la información necesaria sobre la eficacia de la olanzapina en los adolescentes con anorexia nerviosa (AU)

Marcadores tumorales procesos ginecológicos benignos / Tumor markers in benign gynecologic diseases

La determinación de marcadores tumorales se emplea como prueba complementaria en el diagnóstico de algunas neoplasias. Cifras muy elevadas se asocian casi invariablemente a neoplasias malignas. Presentamos el caso de una paciente en la que el conjunto de datos analíticos, sobre todo la importante elevación de marcadores tumorales, y exploratorios orientaron hacia un diagnóstico de malignidad que condujo a la realización de cirugía radical. Únicamente el estudio histopatológico diferido de toda la pieza demostró la benignidad del proceso. Tras el tratamiento los niveles de marcadores descendieron hasta su normalización. Se concluye que la presencia de marcadores tumorales muy elevados puede inducir a un diagnóstico erróneo de malignidad en el estudio de las masas ováricas (AU)

[HELLP syndrome: case report and review of the literature]. / Síndrome de HELLP: a propósito de un caso y revisión de la literatura.

The case of a 32-years-old primipara in her thirty-second week of pregnancy who presented acute epigastric pain, citopenia, elevation in hepatic enzymes and analytical signs of hemolysis is presented. Ultrasonography demonstrated multiple hyperechogenic nodular images in the liver leading to a wide differential diagnosis. Liver biopsy findings, together with the mentioned clinico-biological alterations were indicative of the HELLP syndrome. Following caesarean, the patient presented rapid and total, symptomatic and analytical, improvement. Based on this case, a review of this entity in the literature and its prognostic implications and possible therapeutic approaches are reported.

[Endobronchial lipomas. Apropos of 4 cases]. / Lipomes endobronchiques. A propos de 4 observations.

We present 4 cases of endobronchial lipomas observed in our department over the last fifteen years. Histological diagnosis was obtained in all cases after endobronchoscopy and biopsy. Endobronchial exeresis was possible in one patient, lobectomy was required in a second. For the other two patients, surgery was not performed due to the patient's age and the small size of the tumor. Radiography, bronchoscopy and computed tomography findings suggested the diagnosis which was confirmed at pathology examination of the biopsy or surgical specimen. Treatment for endobronchial lipoma should be as conservative as possible either by endobronchial or laser resection. Thoracotomy should only be used when bronchial or pulmonary alterations are irreversible.