Estudio de las funciones ejecutivas en diabetes tipo 1 mediante el test de evaluación neuropsicológica de las funciones ejecutivas en niños (ENFEN) / Executive functions in children with type 1 diabetes using the neuropsychology test

Introducción: La función ejecutiva en población infantil con diabetes es un campo apenas evaluado. Investigarlo puede ayudar a que esta población alcance un pleno rendimiento académico. Este hecho nos ha llevado a estudiar la repercusión que las variables, como la edad de diagnóstico de la diabetes y el nivel de control metabólico, puedan tener en la función ejecutiva de esta población. Pacientes y métodos: Estudiamos a 74 niños: 37 con diabetes tipo 1 (grupo A) y 37 controles (grupo B). El grupo A se dividió en 2 subgrupos, según la edad de diagnóstico: precoz, antes de los 5 años (grupo A1) y tardío, después de los 5 años (grupo A2). Se realizaron comparaciones entre los grupos A y B, y entre los grupos A1 y A2, utilizando el test evaluación neuropsicológica de las funciones ejecutivas en niños (ENFEN). El control metabólico de los 3 meses previos fue valorado mediante la HbA1c. En el momento de la realización del test, se determinó la glucemia capilar. Recogimos el número de hipoglucemias graves registradas en cada paciente. Resultados: Encontramos diferencias en la prueba de interferencias entre los grupos A y B a favor del grupo con diabetes. Entre los grupos A1 y A2 solo encontramos diferencias en las escalas de fluidez fonológica y en el trazado de sendero gris. Las puntuaciones obtenidas son superiores en ambos casos en el grupo A1. Los niveles de HbA1c y de glucemia capilar no guardaban relación con el rendimiento en las distintas pruebas del ENFEN. Ninguno de los pacientes había tenido hipoglucemias graves previas. Conclusiones: 1) Los niños con diabetes tipo 1 obtienen mejores resultados en actividades que requieren resistencia a la interferencia, atención sostenida y control atencional. 2) Los niños con diabetes de comienzo precoz obtienen puntuaciones más altas en tareas de fluidez fonológica y de flexibilidad cognitiva, que los niños con diabetes de comienzo tardío. 3) En nuestro estudio, los niveles de HbA1c y de glucemia capilar no guardan ningún tipo de relación con el rendimiento en las distintas pruebas del ENFEN (AU)

Introduction: Neurocognitive executive function in the paediatric diabetic population is a rarely studied field. To investigate and improve this aspect could help these patients to reach their full academic potential. This led us to study the impact that variables such as age at diagnosis and adequacy of metabolic control of diabetes may have on the executive cognitive functions of this population. Patients and methods: We studied 74 children: 37 with type 1 diabetes (group A) and 37 without diabetes (group B). Group A was divided into two subgroups, depending on age at diagnosis: early, before 5 years, (group A1) and late, after 5 years, (group A2). We compared group A and B and A1 and A2 groups using the test Neuropsychological assessment of executive functions in children (NAEFC). Diabetes metabolic control was performed by measuring HbA1c and capillary blood glucose before the test. Previous severe hypoglycaemic episodes were recorded. Results: Differences were found among groups A and B in the test of interference. Among the A1 and A2 groups only differences in the scales of phonological fluency and grey trail trace were found. The scores were higher in both cases in the early diabetic group. We did not found any correlation between HbA1c and blood glucose with the different tests of ENFEN results. None of the patients had previous severe hypoglycaemic episodes. Conclusions: 1) Children with diabetes performed better in activities that require resistance to interference, sustained attention and attentional control. 2) Diabetic children with early diagnoses achieved high scores in phonological fluency tasks, and cognitive flexibility. 3) Response to ENFEN was not influenced by HbA1c and blood glucose levels before the test(AU)

[Executive functions in children with type 1 diabetes using the neuropsychology test]. / Estudio de las funciones ejecutivas en diabetes tipo 1 mediante el test de evaluación neuropsicológica de las funciones ejecutivas en niños (ENFEN).

INTRODUCTION: Neurocognitive executive function in the paediatric diabetic population is a rarely studied field. To investigate and improve this aspect could help these patients to reach their full academic potential. This led us to study the impact that variables such as age at diagnosis and adequacy of metabolic control of diabetes may have on the executive cognitive functions of this population. PATIENTS AND METHODS: We studied 74 children: 37 with type 1 diabetes (group A) and 37 without diabetes (group B). Group A was divided into two subgroups, depending on age at diagnosis: early, before 5 years, (group A(1)) and late, after 5 years, (group A(2)). We compared group A and B and A(1) and A(2) groups using the test Neuropsychological assessment of executive functions in children (NAEFC). Diabetes metabolic control was performed by measuring HbA(1c) and capillary blood glucose before the test. Previous severe hypoglycaemic episodes were recorded. RESULTS: Differences were found among groups A and B in the test of interference. Among the A(1) and A(2) groups only differences in the scales of phonological fluency and grey trail trace were found. The scores were higher in both cases in the early diabetic group. We did not found any correlation between HbA(1c) and blood glucose with the different tests of ENFEN results. None of the patients had previous severe hypoglycaemic episodes. CONCLUSIONS: 1) Children with diabetes performed better in activities that require resistance to interference, sustained attention and attentional control. 2) Diabetic children with early diagnoses achieved high scores in phonological fluency tasks, and cognitive flexibility. 3) Response to ENFEN was not influenced by HbA(1c) and blood glucose levels before the test.

Rendimiento neuropsicológico en niños pretérmino con muy bajo peso en el nacimiento / Neuropsychologycal (performance, efficiency, production) in preterm infants with very low birth weight

Introducción: El objetivo principal de este trabajo es conocerlas características neuropsicológicas de un grupo de niños prematuros y con bajo peso al nacimiento, teniendo en cuenta su heterogeneidad y sus rasgos comunes, la gravedad de los síntomas y la necesidad de recibir cuidados específicos. Pacientes y métodos: El grupo estaba formado por 73 sujetos en total, 33 niños y 40 niñas. El número de sujetos en el grupo de bajo peso (GBP) fue de 23 y el del grupo control (GC) de 50. La media de edad en el momento de la recogida de datos fue de 32,65 meses en el GBP y de 31,9 meses para el GC. El estatus socioeconómico de ambos grupos era de tipo medio. Los estadísticos descriptivos de ambos grupos son: «semanas de gestación» con grupo pretérmino (<32 semanas) y grupo control (>37 semanas) y, «peso al nacimiento» con grupo de bajo peso (<1.500 g) y grupo control (>2.500 g). Se evaluó a los participantes mediante una batería de pruebas neuropsicológicas creada específicamente para este estudio. Resultados: El GC obtuvo mejores resultados en casi todas las funciones, pero no todas resultaron estadísticamente significativas, sólo «articulación, lenguaje expresivo y reconocimiento de figuras». Por el contrario, el GBP obtuvo resultados estadísticamente significativos en «reconocimiento de colores». Conclusiones: Se postula la necesidad de realizar un diagnóstico neuropsicológico precoz en los niños de bajo peso al nacer por pertenecer a una población de alto riesgo(AU)

Introduction: The primary target of this work is to know the neuropsychological characteristics of one premature children and with low weight in the birth group, considering it's heterogeneity, common characteristics, the gravity of the symptoms and the necessity to receive specific cares. Patients and methods: The total group is formed by 73 subjects, 33 males and 40 females. The number of subjects of low weight group (LWG) are 23 and the subjects of control group (CG) 50. The average ages at the time of the sample were of 32.65 months, GBP and of 31.9 months GC. The socioeconomic status of both groups were average type. Statistical descriptive of both groups are "weeks of gestation" with the group preterm (<32 weeks) and the control group (>37 weeks) and "weight in the birth", the group of very low weight (<1,500 g) and the control group (>2,500 g). The subjects are evaluated through a neuropsychological battery of tests created for this study. Results: The LWG obtains better results in almost functions but not all are statistically significant, only "articulation, expressive language and recognition of figures". In the other way, the CG obtains statistically significant results in "recognition of colors". Conclusions: We postulate the necessity to realise a precocious neuropsychologycal diagnostic in the children with low weight birth because they belong to a high-risk group(AU)

Evaluación neuropsicológica de la diabetes mellitus tipo 1 en la infancia / Neuropsychological evaluation of type 1 diabetes mellitus in childhood

Introducción: La diabetes mellitus (DM) puede afectar al funcionamiento cognitivo, especialmente cuando existe un control metabólico de la enfermedad deficiente. Los niños diabéticos constituyen una población con mayor riesgo de presentar problemas de aprendizaje debido a las posibles alteraciones metabólicas que pueden padecer. Objetivos: Estudiar el rendimiento neuropsicológico y comportamental de un grupo de niños con DM, teniendo en cuenta la edad de diagnóstico de la enfermedad. Material y métodos: La muestra está formada por un grupo de 42 niños diabéticos y otro grupo de control formado por 43 niños sanos. Los niños diabéticos se dividieron en dos subgrupos: de inicio precoz y tardío, según la edad de diagnóstico de la enfermedad, anterior o posterior a los 5 años. Se realizaron varios test (WISC-R,QNST, test de figura compleja de Rey, TALE y EPQ-J). Resultados: Los niños con DM obtuvieron peores resultados en la prueba de escritura del TALE y en el subtest de cubos del WISC-R. Los de inicio precoz mostraron peor rendimiento que los de inicio tardío en la prueba de escritura del TALE y en la de cubos del WISC-R. Conclusiones: El rendimiento cognitivo, la estructura neuropsicológica y los factores de personalidad del grupo diabético son similares a los de los niños no diabéticos, sin que la edad de diagnóstico de la enfermedad produzca diferencias importantes en su rendimiento (AU)

Introduction: Diabetes mellitus can affect normal cognitive functioning, particularly when the illness shows evidence of poor metabolic control. Diabetic children represent the population at greatest risk of suffering from learning problems as a consequence of the possible metabolic alterations that may display. Aims: To study the neuropsychological and behavioral performance of a group of children with diabetes mellitus, taking into account the age at which the illness was diagnosed. Material and methods: The sample was comprised of an experimental group of 42 diabetic children and a control group of 43 healthy children. Diabetic children was divided into two subgroups: early onset and late-onset diabetics children with diabetes, according to the age of the diagnosis of the illness, before or after the age of 5 years. A tests battery were applied, consisting of WISC-R, QNST, Figure of Rey, TALE and EPQ-J. Results: Children with diabetes demonstrated lower results in the TALE writing test and in WISC-R Cubes subtest. The early-onset group showed a lower performance than the late-onset group in the TALE writing test and in the WISC-R Cubes subtest. Conclusions: Cognitive performance, neuropsychological structure and personality factors examined in the diabetic group show similarities to the non-diabetic children, without the age of diagnosis having significant effects on in performance(AU)

Characterization of the porcine transferrin gene (TF) and its association with disease severity following an experimental Actinobacillus pleuropneumoniae infection.

Transferrin (TF)-mediated provision of iron is essential for a productive infection by many bacterial pathogens, and iron-depletion of TF is a first line defence against bacterial infections. Therefore, the transferrin (TF) gene can be considered a candidate gene for disease resistance. We obtained the complete DNA sequence of the porcine TF gene, which spans 40 kb and contains 17 exons. We identified polymorphisms on a panel of 10 different pig breeds. Comparative intra- and interbreed sequence analysis revealed 62 polymorphisms in the TF gene including one microsatellite. Ten polymorphisms were located in the coding sequence of the TF gene. Four SNPs (c.902A>T, c.980G>A, c.1417A>G, c.1810A>C) were predicted to cause amino acid exchanges (p.Lys301Ile, p.Arg327Lys, p.Lys473Glu, p.Asn604His). We performed association analyses using six selected TF markers and 116 pigs experimentally infected with Actinobacillus pleuropneumoniae serotype 7. The analysis showed breed-specific TF allele frequencies. In German Landrace, we found evidence for a possible association of the severity of A. pleuropneumoniae infection with TF genotypes.

Comportamiento violento en adolescentes: su relación con las estrategias cognitivas y el rendimiento académico / No disponible

El objetivo general de esta investigación es estudiar los patrones de conducta violenta en la escuela, así como su relación con las estrategias cognitivas de aprendizaje y motivación, y el rendimiento académico en los adolescentes. Para ello se administraron dos cuestionarios (CEVEO y CEAM) en una muestra de 1.512 estudiantes de ESO, pertenecientes a centros educativos de la Comunidad de Madrid, situados en localidades de más de 50.000 habitantes. Los principales resultados del estudio fueron los siguientes: a) las principales diferencias con respecto a las estrategias cognitivas de aprendizaje se encontraron en búsqueda de lo esencial y enfoque superficial; b) en general, se encontraron diferencias en relación con las estrategias cognitivas de motivación; y c) existen diferencias significativas con respecto al rendimiento académico (AU)

This paper presents a study of violent behavior patterns of adolescents at school, along with its relation to learning and motivational cognitive strategies and to academic performance. Two questionnaires (CEVEO and CEAM) were completed by 1,512 secondary education students in Madrid region schools located in towns over 50,000 inhabitants. The main outcomes were the following: a) the main differences in learning cognitive strategies focused on finding the essential and superficial approach; b) significant differences in motivational cognitive strategies were observed; and c) significant differences were also found in academic performance (AU)

[Neuropsychological impairment in human immunodeficiency virus-positive children]. / Alteraciones neuropsicologicas en ninos infectados por el virus de inmunodeficiencia humana.

INTRODUCTION: From human immunodeficiency virus (HIV)/AIDS epidemic onset in 1981 through 2003, 580,000 infants, children and adolescents died worldwide. Currently, between 2.1 and 2.9 million are estimated to live with HIV/AIDS. Here we review the main features of HIV/AIDS in infants, children and adolescents from a neuropsychological stance. Also, we review current neuropsychological tests for assessment of HIV/AIDS-associated neuropsychological impairment in infants, children and adolescents. DEVELOPMENT: Most HIV-positive infants and children will die before adolescence. These children present both neurological and neuropsychological derangements with a variety of cognitive and motor deficits and important differences in their course. The main neurological condition related to HIV infection in childhood is HIV-associated progressive encephalopathy, which may be the initial presenting condition for AIDS in 18% of cases, affecting 30-60% of seropositive infants, children and adolescents at any time point of their disease. HIV-associated progressive encephalopathy causes neuropsychological deficits involving a wide variety of domains, such as speed and language, memory, learning, information processing and motor functioning. They may affect negatively children's normal development and school achievement. CONCLUSIONS: It is crucial to determine how infection affects HIV-positive children and adolescents' development and to establish which interventions are more efficient to help them to be successful at school. Also, it is necessary to determine confounding variable role in HIV-positive infants, children and adolescents' cognitive development to determine direct and indirect HIV-infection effects on neuropsychological development.

Alteraciones neuropsicológicas en niños infectados por el virus de inmunodeficiencia humana / Neuropsychological impairment in human immunodeficiency virus-positive children

Introducción. Desde el comienzo de la epidemia del virus de inmunodeficiencia humana (VIH)/sida en 1981 hasta finales de 2003, han muerto 580.000 niños por esta enfermedad. Se calcula que entre 2,1 y 2,9 millones sufren el VIH/sida. En este artículo revisamos las características de la infección por el VIH en lactantes, niños y adolescentes desde una perspectiva neuropsicológica. Asimismo, revisamos las pruebas neuropsicológicas que se utilizan para evaluar las alteraciones cognitivas y psicomotrices asociadas con la infección en lactantes, niños y adolescentes. Desarrollo. La mayoría de los niños infectados morirá antes de llegar a la adolescencia. Los niños seropositivos sufren alteraciones tanto neurológicas como neuropsicológicas, pero la evolución y los déficit concretos varían mucho de un niño a otro. La principal enfermedad neurológica asociada con el VIH en niños es la encefalopatía progresiva de la infancia asociada con el VIH, que puede ser la presentación clínica inicial del sida hasta en el 18% de los casos y afecta al 30-60% de los niños y adolescentes seropositivos en algún momento de la enfermedad. Produce déficit neuropsicológicos en áreas cognitivas y motoras muy variadas, y puede afectar muy negativamente al desarrollo evolutivo normal del niño y a su rendimiento escolar y social. Conclusiones. Es importante determinar cómo el VIH afecta al desarrollo de estos niños y qué tipo de intervenciones les ayudarán a mejorar. Además, es necesario determinar la influencia de las variables de confusión que pueden afectar al desarrollo neuropsicológico para determinar así los efectos evolutivos directos e indirectos de la infección

Introduction. From human immunodeficiency virus (HIV)/AIDS epidemic onset in 1981 through 2003, 580,000 infants, children and adolescents died worldwide. Currently, between 2.1 and 2.9 million are estimated to live with HIV/AIDS. Here we review the main features of HIV/AIDS in infants, children and adolescents from a neuropsychological stance. Also, we review current neuropsychological tests for assessment of HIV/AIDS-associated neuropsychological impairment in infants, children and adolescents. Development. Most HIV-positive infants and children will die before adolescence. These children present both neurological and neuropsychological derangements with a variety of cognitive and motor deficits and important differences in their course. The main neurological condition related to HIV infection in childhood is HIV-associated progressive encephalopathy, which may be the initial presenting condition for AIDS in 18% of cases, affecting 30-60% of seropositive infants, children and adolescents at any time point of their disease. HIV-associated progressive encephalopathy causes neuropsychological deficits involving a wide variety of domains, such as speed and language, memory, learning, information processing and motor functioning. They may affect negatively children’s normal development and school achievement. Conclusions. It is crucial to determine how infection affects HIV-positive children and adolescents’ development and to establish which interventions are more efficient to help them to be successful at school. Also, it is necessary to determine confounding variable role in HIV-positive infants, children and adolescents’cognitive development to determine direct and indirect HIV-infection effects on neuropsychological development

[Evoked potentials in a population of children below 1,500 grams at birth: a description and probabilities]. / Potenciales evocados en una población de niños menores de 1.500 gramos: descripción y probabilidades.

INTRODUCTION: Bioelectrical behaviour was studied in a group of low birth weight children. AIM: To evaluate whether the characteristics of the waves of the brain potentials in these children, who weighed less than 1500 g at birth and experienced anomalous circumstances and events during their perinatal period, would help reach an early diagnosis of the possible developmental disorders they might suffer later on in life. SUBJECTS AND METHODS: Both visual and auditory cerebral evoked potentials were recorded in a group of children born underweight and the results were compared with the findings from another group of healthy children who were born in normal physiological conditions and were apparently free of any kind of pathology. RESULTS: In the waves and locations that were examined, the problem group displayed latencies that were longer than those of the control group; in contrast, no statistically significant differences were found in the amplitude, regardless of the location. Low gestational age and lower weight made latencies longer, but no relationship was found between latencies and the other perinatal features that were studied. CONCLUSIONS: Children with low weight at birth have slower wave latencies than normal children. This slowing, which is inversely proportional to the weight and weeks of gestation, is considered to be an anomalous sign that could be related to brain immaturity, delayed development or to disorders affecting myelination. Moreover, the amplitude, which has received far less attention from researchers, is usually shorter in these processes, although in our study we found no differences with the group of healthy children--only very slightly in the P300, in the weeks and the weight, and the N100 only in one location with respect to weight. Since these children usually have developmental disorders, the use of evoked potentials could be a very useful tool in their detection and ensuing therapy.

Potenciales evocados en una población de niños menores de 1.500 gramos: descripción y probabilidades / Evoked potentials in a population of children below 1500 grams at birth: a description and probabilities

Introducción. Se estudió el comportamiento bioeléctrico en un grupo de niños con bajo peso al nacer. Objetivo. Valorar si las características de las ondas de los potenciales cerebrales en estos niños con pesos menores de 1.500 g en el momento del nacimiento, que sufrieron circunstancias y accidentes anómalos durante su etapa perinatal, ayudarían en el diagnóstico precoz de las posibles alteraciones del desarrollo que eventualmente pudieran presentar. Sujetos y métodos. Se realizaron los potenciales evocados cerebrales tanto visuales como auditivos en un grupo de niños de bajo peso en el momento del nacimiento y los resultados se compararon con los hallados en otro grupo de niños sanos, que nacieron en condiciones fisiológicas y en los que no se ha detectado patología alguna. Resultados. En las ondas y las localizaciones examinadas, el grupo problema presentó unas latencias más alargadas que el grupo control; en cambio, no se encontró una diferencia estadísticamente significativa en la amplitud, con independencia de la localización. La corta edad gestacional y el menor peso alargan las latencias, pero no hemos encontrado relación alguna entre las latencias y el resto de las características perinatales estudiadas. Conclusiones. Los niños de muy bajo peso en el momento del nacimiento tienen lentificada la latencia de las ondas con respecto a los niños normales. Esta lentitud, que es inversamente proporcional al peso y a las semanas de gestación, es considerada como un signo anómalo que pudiera estar en relación con la inmadurez cerebral, con el retardo del desarrollo o con la alteración de la mielinización. Por otro lado, la amplitud, mucho menos estudiada, suele estar acortada en esos procesos, aunque en nuestro estudio no encontramos diferencias con el grupo de niños sanos; sólo escasamente en la P300, en las semanas y en el peso, y la N100 únicamente en una localización en relación con el peso. Como esta colectividad de niños suele presentar trastornos del desarrollo, la utilización de potenciales evocados podría constituir una herramienta de gran utilidad para su detección y posterior terapia (AU)

Introduction. Bioelectrical behaviour was studied in a group of low birth weight children. Aim. To evaluate whether the characteristics of the waves of the brain potentials in these children, who weighed less than 1500 g at birth and experienced anomalous circumstances and events during their perinatal period, would help reach an early diagnosis of the possible developmental disorders they might suffer later on in life. Subjects and methods. Both visual and auditory cerebral evoked potentials were recorded in a group of children born underweight and the results were compared with the findings from another group of healthy children who were born in normal physiological conditions and were apparently free of any kind of pathology. Results. In the waves and locations that were examined, the problem group displayed latencies that were longer than those of the control group; in contrast, no statistically significant differences were found in the amplitude, regardless of the location. Low gestational age and lower weight made latencies longer, but no relationship was found between latencies and the other perinatal features that were studied. Conclusions. Children with low weight at birth have slower wave latencies than normal children. This slowing, which is inversely proportional to the weight and weeks of gestation, is considered to be an anomalo ussign that could be related to brain immaturity, delayed development or to disorders affecting myelination. Moreover, the amplitude, which has received far less attention from researchers, is usually shorter in these processes, although in our study we found no differences with the group of healthy children –only very slightly in the P300, in the weeks and the weight, and theN100 only in one location with respect to weight. Since these children usually have developmental disorders, the use of evoked potentials could (AU)

[Cognitive performance of right-handed and left-handed persons on the Wechsler Adult Intelligence Scale (WAIS-III)]. / Rendimiento cognitivo de diestros y zurdos en la escala de inteligencia de Wechsler para adultos (WAIS-III).

AIM: To contribute to the knowledge of the cognitive differences existent between right-handed and left-handed evaluating the cognitive outcome in a group of adults right-handed and another group of left-handed of similar characteristic (age, gender, cultural level) by means of the Wechsler Adult Intelligence Scale (WAIS-III). SUBJECTS AND METHODS: Two groups were studied: one formed by 25 right-handed (RHG) and another formed by 25 left-handed (LHG). None of those subject of the study presented mental deficiency neither neurological dysfunctions. The age stocking was of 24.28 years, with a range between 20 and 28 years. RESULTS: There are not differences in the intellectual quotient (verbal and performance), among the two groups. The LHG obtains worse results that the right-handed in speed of prosecution and in the subtests of arithmetic and key, while the RHG has obtained better results in the subtest of incomplete figures. CONCLUSIONS: The LHG has a cognitive yield similar to that of the RHG, with slight deficiencies in activities of visoperceptual component. It becomes necessary to continue deepening in the neuropsychological and cognitive differences between right-handed and left-handed, since the cognitive outcome of the left-handed ones continues being a topic in discussion.

Rendimiento cognitivo de diestros y zurdos en la escala de inteligencia de Wechsler para adultos (WAIS-III) / Cognitive performance of right-handed and left-handed persons on the wechsler adult intelligence scale (WAIS-III)

Objetivo. Contribuir al conocimiento de las diferencias cognitivas existentes entre diestros y zurdos, mediante la valoración del rendimiento cognitivo en un grupo de sujetos adultos diestros y otro de zurdos de similares características en cuanto al género, edad y nivel cultural gracias a la escala de inteligencia de Wechsler para adultos (WAIS-III). Sujetos y métodos. Se estudiaron dos grupos: uno formado por 25 diestros (GD) y otro formado por 25 zurdos (GZ). Ninguno de los sujetos del estudio presentaba deficiencias mentales ni trastornos neurológicos. La media de edad era de 24,28 años, con un rango entre 20 y 28 años. Resultados. No hay diferencias en el cociente intelectual (verbal y manipulativo),entre los dos grupos. El GZ obtuvo peores resultados que los diestros en velocidad de procesamiento y en las pruebas de aritmética y claves, mientras que el GD consiguió mejores resultados en el subtest de figuras incompletas. Conclusiones. El GZ tiene un rendimiento cognitivo similar al del GD, con ligeras deficiencias en actividades de componente visuoperceptivo. Se hace necesario seguir profundizando en las diferencias cognitivas y neuropsicológicas entre diestros y zurdos, ya que el rendimiento cognitivo de los zurdos continúa siendo un tema en discusión (AU)

Aim. To contribute to the knowledge of the cognitive differences existent between right-handed and left-handed evaluating the cognitive outcome in a group of adults right-handed and another group of left-handed of similar characteristic(age, gender, cultural level) by means of the Wechsler Adult Intelligence Scale (WAIS-III). Subjects and methods. Two groups were studied: one formed by 25 right-handed (RHG) and another formed by 25 left-handed (LHG). None of those subject of the study presented mental deficiency neither neurological dysfunctions. The age stocking was of 24.28 years, with a range between 20 and 28 years. Results. There are not differences in the intellectual quotient (verbal and performance), among the two groups. The LHG obtains worse results that the right-handed in speed of prosecution and in the subtests of arithmetic and key, while the RHG has obtained better results in the subtest of incomplete figures. Conclusions. The LHG has a cognitive yield similar to that of the RHG, with slight deficiencies in activities of visoperceptual component. It becomes necessary to continue deepening in the neuropsychological and cognitive differences between right-handed and left-handed, since the cognitive outcome of the left-handed ones continues being a topic in discussion (AU)

[A study of evoked potentials in the brains of very low birth weight infants]. / Estudio de potenciales evocados cerebrales en niños de muy bajo peso al nacimiento.

INTRODUCTION: This work studies the behaviour of the N200 and P300 waves of the brain evoked potentials (BEP) in a group of very low birth weight infants and results are compared with a second group of children whose weight was normal at birth. AIMS: The objective of this study was to determine whether the N200 and, more especially, the P300 waves in children under the age of 3 could be used to assess the development and prognosis of their disorders. PATIENTS AND METHODS: BEP were performed in very low birth weight infants (taken as the test group) and in others whose weight at birth was normal (control group); the difference in ages when the potentials were recorded was not statistically significant. RESULTS: The EEG index was evaluated for both the test and the control group, and a difference was found with a significance of p < 0.001. Latency, in milliseconds, of the N200 wave and the P300 wave was recorded at the same sites for the test and control groups and showed differences with a significance of p < 0.001. CONCLUSIONS: The findings from the EEG and the latencies of the N200 and P300 waves in the BEP of very low birth weight infants are pathological and are linked to immaturity of the brain, which is characteristic of this population. This tool could help to detect developmental disorders and to facilitate a better approach to attending these children.

Estudio de potenciales evocados cerebrales en niños de muy bajo peso al nacimiento / A study of evoked potentials in the brains of very low birth weight infants

Introducción. Se estudia el comportamiento de las ondas N200 y P300 de los potenciales evocados cerebrales (PEC) de un grupo de niños nacidos con muy bajo peso y se compara con otro de nacidos normales. Objetivos. Comprobar si la latencia de las ondas N200 y, sobre todo, de la P300, en niños mayores de 3 años, que nacieron con pesos muy bajos, podrían servir para valorar el desarrollo y el pronóstico de sus alteraciones. Pacientes y métodos. Se realizaron PEC en niños nacidos con muy bajo peso como grupo probando y en otros cuyo peso al nacer fue normal, cuya diferencia de edad en el momento de realizar los potenciales no era estadísticamente significativa. Resultados. Se evaluó el índice electroencefalográfico, tanto para el grupo probando como para el testigo, y se obtuvo una diferencia con una significación de p < 0,001. La latencia, en milisegundos de la onda N200 y de la onda P300 tomadas en las mismas localizaciones para el grupo testigo y para el grupo probando, demuestran diferencias con una significación de p < 0,001. Conclusiones. Los hallazgos encontrados en el electroencefalograma y las latencias de las ondas N200 y P300 de los PEC de los niños de muy bajo peso al nacimiento son patológicos y se relacionan con la inmadurez cerebral, propia de esta población. Esta herramienta podría ayudar para detectar trastornos del desarrollo, y facilitar un mejor tratamiento a la atención de estos niños (AU)

Introduction. This work studies the behaviour of the N200 and P300 waves of the brain evoked potentials (BEP) in a group of very low birth weight infants and results are compared with a second group of children whose weight was normal at birth. Aims. The objective of this study was to determine whether the N200 and, more especially, the P300 waves in children under the age of 3 could be used to assess the development and prognosis of their disorders. Patients and methods. BEP were performed in very low birth weight infants (taken as the test group) and in others whose weight at birth was normal (control group); the difference in ages when the potentials were recorded was not statistically significant. Results. The EEG index was evaluated for both the test and the control group, and a difference was found with a significance of p < 0.001. Latency, in milliseconds, of the N200 wave and the P300 wave was recorded at the same sites for the test and control groups and showed differences with a significance of p < 0.001. Conclusions. The findings from the EEG and the latencies of the N200 and P300 waves in the BEP of very low birth weight infants are pathological and are linked to immaturity of the brain, which is characteristic of this population. This tool could help to detect developmental disorders and to facilitate a better approach to attending these children (AU)

Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene.

We have compared the substitution pattern of the glucocerebrosidase gene (GBA) and the glucocerebrosidase pseudogene (psGBA), two highly homologous regions under different selective pressures and within the same genomic background. Mutations in GBA may lead to Gaucher disease, an inborn metabolic disorder. Disease-causing mutations and neutral variation in the gene have been compared to neutral variation in the pseudogene. This comparison offers a unique opportunity to better understand the action of purifying selection, since the differences between mutational patterns can be attributed to different selective pressures. A similar frequency of CpG dinucleotides was observed in GBA and in psGBA, and CpG pairs were mutated with the same high frequency in both regions. However, nucleotides not in CpG pairs were more likely to contribute to disease-causing mutation than to accepted polymorphisms. This pattern, which resulted in a lower transition to transversion ratio in the gene, may be due to CpG avoidance on critical regions within exons.

Sequence variability of a human pseudogene.

We have obtained haplotypes from the autosomal glucocerebrosidase pseudogene (psGBA) for 100 human chromosomes from worldwide populations, as well as for four chimpanzee and four gorilla chromosomes. In humans, in a 5420-nucleotide stretch analyzed, variation comprises 17 substitutions, a 3-bp deletion, and a length polymorphism at a polyadenine tract. The substitution rate on the pseudogene (1.23 +/- 0.22 x 10(-9) per nucleotide and year) is within the range of previous estimates considering phylogenetic estimations. Recombination within the pseudogene was recognized, although the low variability of this locus prevented an accurate measure of recombination rates. At least 13% of the psGBA sequence could be attributed to gene conversion from the contiguous GBA gene, whereas the reciprocal event has been shown to lead to Gaucher disease. Human psGBA sequences showed a recent coalescence time (approximately 200,000 yr ago), and the most ancestral haplotype was found only in Africans; both observations are compatible with the replacement hypothesis of human origins. In a deeper timeframe, phylogenetic analysis showed that the duplication event that created psGBA could be dated at approximately 27 million years ago, in agreement with previous estimates.

Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.

We surveyed the genetic variability of the glucocerebrosidase pseudogene (psGBA) in a worldwide sample of 100 human chromosomes. psGBA is the non-functional duplicate of the gene responsible for Gaucher disease (GBA), the most common lipid storage disorder. The existence of only one psGBA allele described until now, together with the high homology between GBA and psGBA, often prevented recognition of the complex alleles formed by the combination of GBA and psGBA, because psGBA variants could be confused with GBA mutations. In order to determine the variability existent in psGBA, the whole psGBA DNA segment was PCR-amplified and sequenced, and the genotype for all samples was obtained. The ascertainment of the phase among the heterozygous sites was possible through cloning and sequencing a single allele. Eighteen variable sites were detected along psGBA. Two of the variants already have been reported as Gaucher-causing mutations when present in GBA alleles. The other variants were unknown. The knowledge of the psGBA variants described in this report will allow identification of psGBA-GBA complex alleles that may aid in understanding the intricate phenotype-genotype relationship in Gaucher disease.

Genetic structure of north-west Africa revealed by STR analysis.

We have analysed a large set of autosomal short tandem repeat (STR) loci in several Arabic and Berber-speaking groups from north-west Africa (ie Moroccan Arabs, northern-central and southern Moroccan Berbers, Saharawis, and Mozabites). Two levels of analysis have been devised using two sets of 12STR loci, (D3S1358, vWA, FGA, THO1, TPOX, CSF1PO, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820) and 21 (the former set plus D9S926, D11S2010, D13S767, D14S306, D18S848, D2S1328, D4S243, F13A1, and FES/FPS). For each set, data for a number of external reference populations were gathered from the literature. Several methods of analysis based on genetic distances (neighbour-joining trees, principal coordinate analysis, boundary detection), as well as AMOVA, showed that genetic differentiation among NW African populations was very low and devoid of any spatial pattern. When the NW African populations were grouped according to cultural or linguistic differences, the partition was not associated with genetic differentiation. Thus, it is likely that Arabisation was mainly a cultural process. A clear genetic difference was found between NW African populations and Iberians, which underscores the Gilbraltar Straits as a strong barrier to genetic exchange; nonetheless, some degree of gene flow into Southern Iberia may have existed. NW Africans were genetically closer to Iberians and to other Europeans than to African Americans.

The tyrosinase gene in gorillas and the albinism of 'Snowflake'.

The sequence of the tyrosinase (Tyr) gene coding tracts has been obtained for the gorilla (Gorilla gorilla gorilla). The five exons of the gene were sequenced in three gorillas and in a normally pigmented human. The tyrosinase gene has been found to be a very conserved locus with a very low substitution rate. Some nucleotide and amino acid differences were found between the gorilla and human tyrosinase coding sequences. One of the gorillas included in the study is the only known case of albinism in a gorilla ('Snowflake'). Mutations of the TYR gene lead to Oculocutaneous Albinism type 1 (OCA1), the most common type of albinism in humans (OMIM accession number 203100). The TYR gene encodes the tyrosinase enzyme (E.C. 1.14.18.1), whose activity was found to be completely lacking in 'Snowflake', indicating that a mutation in the Tyr gene is the likely cause of his albinism. Nonetheless, no nucleotide changes were detected that could account for the lack of Tyr product or tyrosinase activity in Snowflake, and explanations of these findings are discussed.

[Psychometric validation of the telephone memory test]. / Validación psicométrica del Autotest Telefónico de Memoria.

INTRODUCTION: Several pathologies (i.e. Alzheimer's disease) that courses with memory alterations, appears in a context of impaired cognitive status and mobility. In recent years, several investigations were carried out in order to design short batteries that detect those subjects under risk of dementia. Some of this batteries were also design to be administrated over the telephone, trying to overcome the accessibility limitations of this patients. METHODOLOGY: In this paper we present a battery (called Autotest de Memoria) essentially composed by episodic and semantic memory tests, administered both over the telephone and face to face. This battery was employed in the cognitive assessment of healthy controls and subjects diagnosed as probable Alzheimer's disease patients. RESULTS: Results show the capability of this battery in order to discriminate patients and healthy controls, a great sensibility and specificity, and a nearly absolute parallelism of telephone and face to face administrations. CONCLUSION: These data led us to claim the usefulness and practicality of our so called <>.