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1.
Math Biosci Eng ; 18(5): 4961-4970, 2021 06 07.
Artículo en Inglés | MEDLINE | ID: mdl-34517472

RESUMEN

This study developed a method to approximate the covariance matrix associated with the simulation of water molecular diffusion inside the brain tissue. The computation implements the Discontinuous Galerkin method of the diffusion equation. A physically consistent numerical flux is applied to model the interaction between the axon walls and extracellular regions. This numerical flux yields an efficient GPU-CUDA implementation. We consider the two-dimensional case of high axon pack density, valid, for instance, in the brain's corpus callosum region.


Asunto(s)
Encéfalo , Imagen de Difusión por Resonancia Magnética , Axones , Simulación por Computador , Cuerpo Calloso
2.
Rev. colomb. biotecnol ; 22(1): 79-86, ene.-jun. 2020. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1115574

RESUMEN

RESUMEN La batata (Ipomoea batatas L.) se cultiva en todo el mundo como fuente de carbohidratos, y su producción comercial requiere un alto aporte de fertilizantes químicos, lo cual eleva los costos de producción. Los inoculantes microbianos, se emplean como una fuente alternativa de nutrición vegetal. El objetivo de esta investigación fue evaluar el efecto de Pseudomonas denitrificans IBVS2 y Azotobacter vinelandii IBVS13 con diferentes niveles fertilización química nitrogenada en el cultivo de batata en la microrregión del Valle del Sinú en el Caribe Colombiano. Para los montajes de los experimentos se utilizó un diseño completamente aleatorizado, ocho tratamientos y tres repeticiones usando como material vegetal plántulas obtenidas in vitro endurecidas en invernadero. Los resultados demostraron que la cepa Azotobacter vinelandii IBVS13 con un 75% de fertilización nitrogenada (FN) mejoró la capacidad de acumulación de materia seca en los tubérculos de batata, generando incrementos de 6,65 t/ha respecto al testigo químico y 3,18 t/ha en relación con el testigo absoluto, garantizando un incremento del rendimiento. Así mismo, el contenido de proteína bruta aumentó 13,93% al realizar la inoculación de las plantas con esta cepa. En el mismo sentido, la cepa Pseudomonas denitrificans IBVS2+ fertilización nitrogenada 50% presentó aumentos en la variable de fibra cruda 31,75% respecto al testigo absoluto, contribuyendo de manera eficaz como bioestimulante microbiano en la agricultura.


ABSTRACT Sweet potatoes (Ipomoea batatas L.) are grown worldwide as a source of carbohydrates, and their commercial production requires a high contribution of chemical fertilizers, which increases production costs. Microbial inoculants are used as an alternative source of plant nutrition. The objective of this research was to evaluate the effect of Pseudomonas denitrificans IBVS2 and Azotobacter vinelandii IBVS13 with different levels of nitrogen chemical fertilization in the sweet potato crop in the microregion of the Sinú Valley in the Colombian Caribbean. A completely randomized design was used for the experiment development, eight treatments was evaluated and three repetitions were carried out. In vitro hardened seedlings was used as a plant material. The results showed that the Azotobacter vinelandii IBVS1 3 strain with 75% nitrogen fertilization (FM) improved the accumulation capacity of dry matter in sweet potato roots, generating increases of 6.65 t / ha compared to the chemical control and 3.18 t / ha in relation to the absolute control, guaranteeing an increase in yield. The crude protein content was increased in 13.93% when inoculating the plants with this strain. In the same way, with the inoculation of strain Pseudomonas denitrificans IBVS2 + 50% nitrogen fertilization the crude fiber variable was increased in 31.75% compared to the absolute control, contributing effectively as a microbial biostimulant in agriculture.

3.
J Comput Chem ; 36(19): 1456-66, 2015 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-26037060

RESUMEN

A new hierarchical method to determine molecular similarity is introduced. The goal of this method is to detect if a pair of molecules has the same structure by estimating a rigid transformation that aligns the molecules and a correspondence function that matches their atoms. The algorithm firstly detect similarity based on the global spatial structure. If this analysis is not sufficient, the algorithm computes novel local structural rotation-invariant descriptors for the atom neighborhood and uses this information to match atoms. Two strategies (deterministic and stochastic) on the matching based alignment computation are tested. As a result, the atom-matching based on local similarity indexes decreases the number of testing trials and significantly reduces the dimensionality of the Hungarian assignation problem. The experiments on well-known datasets show that our proposal outperforms state-of-the-art methods in terms of the required computational time and accuracy.

4.
Arq Neuropsiquiatr ; 70(4): 267-70, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22510738

RESUMEN

OBJECTIVE: To describe the epidemiological and clinical characteristics of Venezuelan pediatric patients with multiple sclerosis (MS). METHODS: Database records from the National Program for MS were searched for patients with an established diagnosis of MS whose first symptoms appeared before age 18. RESULTS: The national database held records of 1.710 patients; 3.8% had onset of the first symptoms before age 18. 46.7% were boys, yielding an F:M ratio of 1.13:1. Many children had a disease onset characterized by motor impairment (30.7%), brainstem/cerebellum and spinal cord affectation (27.6%), headache (26%). Less frequent symptoms were sensory symptoms (8%) and optic neuritis (7%). DISCUSSION: Pediatric MS patients in Venezuela represent a significant proportion of all MS cases. The clinical pattern is characterized by motor symptoms at onset, and predominantly monosymptomatic presentation with a relapsing-remitting pattern. This is the first systematic attempt to estimate the prevalence of pediatric MS in Venezuela.


Asunto(s)
Esclerosis Múltiple/epidemiología , Adolescente , Distribución por Edad , Edad de Inicio , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Esclerosis Múltiple/diagnóstico , Prevalencia , Distribución por Sexo , Venezuela/epidemiología
5.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;70(4): 267-270, Apr. 2012. tab
Artículo en Inglés | LILACS | ID: lil-622589

RESUMEN

OBJECTIVE: To describe the epidemiological and clinical characteristics of Venezuelan pediatric patients with multiple sclerosis (MS). METHODS: Database records from the National Program for MS were searched for patients with an established diagnosis of MS whose first symptoms appeared before age 18. RESULTS: The national database held records of 1.710 patients; 3.8% had onset of the first symptoms before age 18. 46.7% were boys, yielding an F:M ratio of 1.13:1. Many children had a disease onset characterized by motor impairment (30.7%), brainstem/cerebellum and spinal cord affectation (27.6%), headache (26%). Less frequent symptoms were sensory symptoms (8%) and optic neuritis (7%). DISCUSSION: Pediatric MS patients in Venezuela represent a significant proportion of all MS cases. The clinical pattern is characterized by motor symptoms at onset, and predominantly monosymptomatic presentation with a relapsing-remitting pattern. This is the first systematic attempt to estimate the prevalence of pediatric MS in Venezuela.


OBJETIVO: Describir las características clínicas y epidemiológicas de pacientes pediátricos venezolanos con EM. MÉTODOS: Se revisó la base de datos del Programa Nacional para EM, identificando pacientes con diagnóstico establecido de EM antes de los 18 años de edad. RESULTADOS: La base de datos registró 1.710 pacientes y 3,8% tenía una edad de aparición menor de 18 años. De estes, 46,7% eran varones, dando una relación F:M de 1.13:1. Muchos niños tuvieron una aparición de la enfermedad caracterizada por déficit motor (30,7%), afectación del tronco encefálico-cerebelo y la médula espinal (27,6%), dolor de cabeza (26%). Síntomas menos frecuentes fueron sensoriales (8%) y neuritis óptica (7%). DISCUSIÓN: Los pacientes pediátricos venezolanos con MS representan una proporción significativa de todos los casos de MS. El patrón clínico está caracterizado por síntomas motores y presentación predominantemente monosintomática con patrón brote-remisión. Este es el primer intento sistemático para estimar la prevalencia de MS pediátrica en Venezuela.


Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Esclerosis Múltiple/epidemiología , Distribución por Edad , Edad de Inicio , Esclerosis Múltiple/diagnóstico , Prevalencia , Distribución por Sexo , Venezuela/epidemiología
6.
Invest Clin ; 52(2): 195-204, 2011 Jun.
Artículo en Español | MEDLINE | ID: mdl-21866791

RESUMEN

According to the DSM-IV-TR, symptoms of inattention and hyperactivity are frequent in children with Autism Spectrum Disorders (ASD). This statement is supported by clinical observation and formal assessment. However, ASD diagnosis is still among the exclusion criteria for the Attention-Deficit/Hyperactivity Disorder (ADHD). Such exclusion generates controversy and questions regarding the need and benefits of maintaining or not these separations; so much so, that the proposed criteria for the DSM-V eliminate that exclusion condition. It is necessary a better understanding of the comorbidity between both entities in order to be able to have an appropriate sequence of the intervention goals. For that reason, if inattention and hyperactivity in individuals with ASD are considered as a representation of a comorbid diagnosis of ADHD, treatment plans for this group would be better adjusted and more likely to offer a real benefit in the outcome of their adaptive functioning.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastornos Generalizados del Desarrollo Infantil/complicaciones , Niño , Humanos
7.
Invest. clín ; Invest. clín;52(2): 195-204, jun. 2011. tab
Artículo en Español | LILACS | ID: lil-664559

RESUMEN

De acuerdo al DSM-IV-TR los síntomas de falta de atención e hiperactividad son frecuentes entre los individuos con Trastornos del Espectro Autista (TEA). Estas aseveraciones están reflejadas en a observación clínica y la valoración formal. Sin embargo, el diagnóstico de TEA aún continúa dentro de los criterios de exclusión para el Trastorno por Déficit de Atención-Hiperactividad (TDAH). Dicha exclusión ha ocasionado controversia e interrogantes con respecto a la necesidad y el beneficio de mantener o no estas separaciones; tanto así, que los criterios propuestos para el DSM-V eliminan dicho criterio de exclusión. Es necesaria una clara comprensión de la comorbilidad entre ambas entidades para realizar una secuencia óptima y apropiada de los objetivos de la intervención. Es por esto, que si se considera la falta de atención e hiperactividad en individuos con un diagnóstico asociado de TEA como una representación de un diagnóstico comórbido de TDAH, los planes de tratamiento serán más apropiados y con mayor impacto en su funcionamiento adaptativo.


According to the DSM-IV-TR, symptoms of inattention and hyperactivity are frequent in children with Autism Spectrum Disorders (ASD). This statement is supported by clinical observation and formal assessment. However, ASD diagnosis is still among the exclusion criteria for the Attention-Deficit/Hyperactivity Disorder (ADHD). Such exclusion generates controversy and questions regarding the need and benefits of maintening or not these separations; so much so, that the proposed criteria for the DSM-V eliminate that exclusion condition. It is necessary a better understanding of the comorbidity between both entities in order to be able to have an appropriate sequence of the intervention goals. For that reason, if inattention and hyperactivity in individuals with ASD are considered as a representation of a comorbid diagnosis of ADHD, treatment plans for this group would be better adjusted and more likely to offer a real benefit in the outcome of their adaptive functioning.


Asunto(s)
Niño , Humanos , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastornos Generalizados del Desarrollo Infantil/complicaciones
8.
Arq Neuropsiquiatr ; 69(1): 34-8, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-21359420

RESUMEN

OBJECTIVE: To analyze the clinical, neuroimaging characteristics and positivity of the acquaporin water channel (NMO-IgG) in pediatric patients with neuromyelitis optica (NMO). This disorder could have a variable clinical expression. To address such variability, the term NMO spectrum has been suggested. METHOD: We evaluated six pediatric patients, with a median age of 11 years at the time of the study, with the diagnosis of NMO by the Wingerchuck criteria. RESULTS: All the cases exhibited bilateral optic neuritis (ON). Four patients had abnormalities on brain MRI from the onset,although only three of them developed symptoms correlated to those lesions during the course of their disorder. NMO-IgG was positive in 80%. CONCLUSION: Optic neuropathy is the most impaired feature in NMO patients. Brain MRI lesions are not compatible with multiple sclerosis and positivity of the NMO-IgG are also present in NMO pediatric patients, confirming the heterogeneity in the expression of this disorder.


Asunto(s)
Encefalopatías/patología , Inmunoglobulina G/sangre , Mielitis Transversa/patología , Neuromielitis Óptica/patología , Adolescente , Encéfalo/patología , Encefalopatías/inmunología , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Mielitis Transversa/inmunología , Neuromielitis Óptica/inmunología
9.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;69(1): 34-38, Feb. 2011. ilus, tab
Artículo en Inglés | LILACS | ID: lil-598343

RESUMEN

OBJECTIVE: To analyze the clinical, neuroimaging characteristics and positivity of the acquaporin water channel (NMO-IgG) in pediatric patients with neuromyelitis optica (NMO). This disorder could have a variable clinical expression. To address such variability, the term NMO spectrum has been suggested. METHOD: We evaluated six pediatric patients, with a median age of 11 years at the time of the study, with the diagnosis of NMO by the Wingerchuck criteria. RESULTS: All the cases exhibited bilateral optic neuritis (ON). Four patients had abnormalities on brain MRI from the onset,although only three of them developed symptoms correlated to those lesions during the course of their disorder. NMO-IgG was positive in 80 percent. CONCLUSION: Optic neuropathy is the most impaired feature in NMO patients. Brain MRI lesions are not compatible with multiple sclerosis and positivity of the NMO-IgG are also present in NMO pediatric patients, confirming the heterogeneity in the expression of this disorder.


OBJETIVO: Analizar las características clínicas y de neuroimagen, y la positividad del canal de agua acuaporin (NMO-IgG) en pacientes pediátricos con neuromielitis óptica (NMO). Este trastorno puede tener una expresión clínica variable. El término espectro de NMO ha sido propuesto para poder incluir la variabilidad. METODO: Evaluamos seis pacientes pediátricos, con una mediana de edad de 11 años al momento del estudio, con el diagnóstico de NMO de acuerdo a los criterios de Wingerchuck. RESULTADOS: Todos los casos exhibían neuritis óptica bilateral (ON). Cuatro pacientes tuvieron anormalidades en la RM cerebral desde el inicio, aunque solo tres de ellos desarrollaron síntomas relacionados con las lesiones durante el curso de la enfermedad. NMO-IgG fue positiva en el 80 por ciento. CONCLUSIÓN: Neuropatía óptica es la característica mayormente observada en los pacientes con NMO. Lesiones cerebrales en la RM cerebral no compatibles con esclerosis multiple y positividad de la NMO-IgG están también presentes en los pacientes pediátricos con NMO; lo cual confirma la heterogeneidad en la expresión clínica de este trastorno.


Asunto(s)
Adolescente , Niño , Femenino , Humanos , Masculino , Encefalopatías/patología , Inmunoglobulina G/sangre , Mielitis Transversa/patología , Neuromielitis Óptica/patología , Encefalopatías/inmunología , Encéfalo/patología , Imagen por Resonancia Magnética , Mielitis Transversa/inmunología , Neuromielitis Óptica/inmunología
10.
IEEE Trans Biomed Eng ; 58(4): 1044-54, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21156387

RESUMEN

This paper presents a new method for the reconstruction of current sources for the electroencephalography (EEG) inverse problem, which produces reconstructed sources, which are confined to a few anatomical regions. The method is based on a partition of the gray matter into a set of regions, and in the construction of a simple linear model for the potential produced by feasible source configurations inside each one of these regions. The proposed method computes the solution in two stages: in the first one, a subset of active regions is found so that the combined potentials produced by sources inside them approximate the measured potential data. In the second stage, a detailed reconstruction of the current sources inside each active region is performed. Experimental results with synthetic data are presented, which show that the proposed scheme is fast, computationally efficient and robust to noise, producing results that are competitive with other published methods, especially when the current sources are effectively distributed in few anatomical regions. The proposed method is also validated with real data from an experiment with visual evoked potentials.


Asunto(s)
Mapeo Encefálico/métodos , Diagnóstico por Computador/métodos , Electroencefalografía/métodos , Potenciales Evocados Visuales/fisiología , Modelos Neurológicos , Red Nerviosa/fisiología , Corteza Visual/fisiología , Simulación por Computador , Humanos
11.
Invest. clín ; Invest. clín;51(3): 415-422, Sept. 2010. ilus, tab
Artículo en Español | LILACS | ID: lil-574447

RESUMEN

El síndrome de Aicardi (SA) se caracteriza por agenesia del cuerpo calloso, espasmos infantiles y lesiones lacunares coriorretinianas. Su espectro evolutivo es variable, con pronóstico habitualmente muy grave en los primeros cinco años de vida. El objetivo de este trabajo es describir el espectro del fenotipo clínico y evolución de este trastorno en cuatro pacientes venezolanos. Todas las pacientes evaluadas cumplieron los criterios diagnósticos mayores, mostraron retraso psicomotor grave y convulsiones de inicio muy temprano. En dos pacientes se observó microftalmía. En tres (75 por ciento) de ellas se observó coloboma del nervio óptico, quistes interhemisféricos y heterotopías periventriculares. La primera paciente, con mayor tiempo de evolución, tiene actualmente 22 años. Todos los casos exhibieron un patrón asimétrico de hipsarritmia alternante en el electroencefalograma. Estos casos ilustran la expresión clínica y gravedad variables del síndrome de Aicardi. Su diagnóstico debe considerarse en niñas con retardo del desarrollo psicomotor y crisis convulsivas recurrentes iniciadas en la infancia temprana.


Aicardi syndrome is characterized by agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The evolution of this disorder is variable, with a severe outcome over the first five years of age. The purpose of this report was to demonstrate the spectrum of the clinical phenotype and the course of this disorder in four Venezuelan patients. All patients met the major criteria, had severe psychomotor impairment and early onset seizures. There were microphtalmia in two of the patients. Three patients (75 percent) showed coloboma, interhemispheric cyst and periventricular heterotopias. The first patient, with longer follow-up, is currently aged 22. They all exhibited a typical asymmetric pattern on the electroencephalogram. These cases illustrate the variable clinical expression and severity of the Aicardi syndrome. A diagnosis of this disorder should be considered in girls with developmental delay, particularly, when there are accompanying recurrent seizures occurring in early childhood.


Asunto(s)
Humanos , Cuerpo Calloso/patología , Espasmos Infantiles/patología , Trastornos Psicomotores , Convulsiones , Síndrome
12.
Invest Clin ; 51(3): 415-22, 2010 Sep.
Artículo en Español | MEDLINE | ID: mdl-21305776

RESUMEN

Aicardi syndrome is characterized by agenesis of the corpus callosum, infantile spasms and chorioretinal lacunae. The evolution of this disorder is variable, with a severe outcome over the first five years of age. The purpose of this report was to demonstrate the spectrum of the clinical phenotype and the course of this disorder in four Venezuelan patients. All patients met the major criteria, had severe psychomotor impairment and early onset seizures. There were microphtalmia in two of the patients. Three patients (75%) showed coloboma, interhemispheric cyst and periventricular heterotopias. The first patient, with longer follow-up, is currently aged 22. They all exhibited a typical asymmetric pattern on the electroencephalogram. These cases illustrate the variable clinical expression and severity of the Aicardi syndrome. A diagnosis of this disorder should be considered in girls with developmental delay, particularly, when there are accompanying recurrent seizures occurring in early childhood.


Asunto(s)
Síndrome de Aicardi/diagnóstico , Femenino , Humanos , Lactante , Recién Nacido , Venezuela , Adulto Joven
13.
Autism ; 12(2): 191-202, 2008 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18308767

RESUMEN

The study aims to determine the prevalence of autism spectrum disorders (ASDs) for children receiving services in Maracaibo County, Venezuela. Children aged 3-9 with diagnosis of any ASD were recruited. We ascertained area, referral process, and definitions of ASD for each patient. A total of 430 children were identified, and 76.5 percent were boys. Prevalences were 1.7 per 1000 for all ASD, 1.1 per 1000 for autism, and 0.6 per 1000 for PDD-NOS and Asperger syndrome combined. These prevalences are lower than current reports in the literature. Differences in case-finding methods, diagnostic criteria, and lack of awareness in the general population may have influenced the number of cases identified. An ASD prevalence of 1.7 per 1000 should alert the health and education authorities to the need to reassess the services available for children with these disorders and their families.


Asunto(s)
Trastorno Autístico/epidemiología , Síndrome de Asperger/diagnóstico , Síndrome de Asperger/epidemiología , Trastorno Autístico/diagnóstico , Niño , Trastornos Generalizados del Desarrollo Infantil/diagnóstico , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Preescolar , Femenino , Necesidades y Demandas de Servicios de Salud , Humanos , Masculino , Prevalencia , Venezuela/epidemiología
14.
Child Psychiatry Hum Dev ; 39(3): 311-22, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18157741

RESUMEN

A total of 1,535 4-12 year-old children were screened with the Conners' rating scales, followed by diagnostic confirmation by the diagnostic interview schedule for children-IV-parent version. The prevalence of ADHD was estimated to be 10.03%, and only 3.9% of children had received medication for the treatment of ADHD symptoms. Prevalence rates and demographic profile of Venezuelan children with ADHD are very similar to those found in samples from other countries. Authorities need to develop public health policies to correctly identify and treat affected subjects. Furthermore, clinicians must actively search for children with ADHD in order to provide the best-available treatment.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Estudiantes/estadística & datos numéricos , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Prevalencia , Instituciones Académicas , Venezuela/epidemiología
15.
Invest. clín ; Invest. clín;48(4): 459-468, dic. 2007. tab
Artículo en Español | LILACS | ID: lil-486583

RESUMEN

Diferentes estudios que comparan varones y hembras diagnosticados con Trastorno por Déficit de Atención-Hiperactividad (TDAH) no han sido concluyentes. En general estos estudios reportan que los varones son más hiperactivos y presentan mayor cantidad de problemas de conducta; mientras que las hembras presentan mayor cantidad de problemas cognoscitivos y de aprendizaje. El objetivo de este estudio estuvo dirigido a obtener información acerca de la caracterización del TDAH dependiendo del género. Se recolectaron datos demográficos, escalas de puntuación de padres y profesores, y cociente intelectual de 169 niños (123 varones, 46 hembras), con edades comprendidas entre 4 y 13 años, con diagnóstico de TDAH. La batería de evaluación incluyó las Escalas de Conners-Revisadas para padres y profesores, la versión abreviada de Escala Wechsler para Niños-III edición (WISC-III) y para Pre-Escolares-Revisada (WPPSI-R), medidas de aprovechamiento académico, historia de desarrollo, y el Inventario de Entrevistas Diagnósticas para Niños-IV Versión Padres (DISC-IV. P) Los resultados indicaron ausencia de diferencias significativas entre géneros para ninguna de las variables estudiadas, varones y hembras con TDAH obtuvieron puntuaciones equivalentes en las diferentes medidas de conductuales y cognoscitivas. Los resultados presentados describen homogeneidad de síntomas, características demográficas y funcionamiento neuropsicológico para niños de ambos géneros con diagnóstico de TDAH, sugiriendo un síndrome con los mismos criterios e independiente del género.


Asunto(s)
Masculino , Humanos , Femenino , Niño , Trastorno por Déficit de Atención con Hiperactividad , Identidad de Género , Neurología , Pediatría , Venezuela
16.
Invest Clin ; 48(2): 225-42, 2007 Jun.
Artículo en Español | MEDLINE | ID: mdl-17598645

RESUMEN

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to Autism has been demonstrated in families and twin studies. There is evidence (linkage and genetic association, biochemical, neuropathological, functional and cytogenetic) that the gamma-amino-butyric acid receptor beta 3 subunit gene (GABRB3) at 15q11-q13 is a susceptibility candidate gene for Autism. The aim of this exploratory study was to identify new variants of this gene. We performed the molecular analysis (SSCP/Sequencing) of 10 exons and its intronic flanking regions of GABRB3, using a candidate gene screening approach in 18 idiopathic autistic patients. We did not find non-synonymous mutations at the encoding regions, but we identified four SNP (Single Nucleotide Polymorphism). The first one, represented a silent mutation p.P25P in exon la and was found in 33.33% of the patients. The second one: IVS3 + 13C > T (5b far from the intron 5' consensus sequence), was found in 44.44% of the patients, while it was also identified in 16.67% of the controls. Simultaneously, 33.33% of the patients had both variants, and although, 16.67% of the controls also had the same combination of variants, 66.66% of the patients with those alleles had a familiar history of Autism. The third and fourth SNP: IVS5 + 40T > G and IVS-70A > G were identified in two different patients. None of the last three SNPs have been reported at the SNP database (dbSNP). The proximity of SNP: IVS3 + 13C > T with the consensus and interaction sequence with U1 nucleoriboprotein, could disturb the normal splicing of mRNA. This is in agreement with the evidence of lower levels of GABA-A receptors in autistic brains; so, it could be a common variant, that by itself could not cause a phenotypic effect, but joined to other variants with the same gene, in different related genes or with epigenetic changes, could explain the autistic phenotype and its heterogeneity.


Asunto(s)
Trastorno Autístico/genética , Receptores de GABA-A/genética , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Masculino , Estudios Prospectivos , Análisis de Secuencia de ADN
17.
Invest. clín ; Invest. clín;48(2): 225-242, jun. 2007. ilus, tab
Artículo en Español | LILACS | ID: lil-486664

RESUMEN

El autismoes un trantorno del desarrollo caracterizado por deterioro de la interacción social, la comunicación, y comportamiento estereotipado. Los estudios de familias y gemelos han demostrado predisposición genética al autismo. Existe evidencia (ligamento y asociación genética, bioquímica, anatomopatológica, funcional y citogenética) de que el gen de la subunidad B3 del receptor de GABA-A (GABRB3), en 15q11-q13, es un candidato de susceptibilidad al autismo. Con el objetivo de identificar nuevas variantes en este gen, se estudiaron 18 pacientes con autismo idiopático, utilizando un tamizaje de gen candidato. Se réalizo el análisis molecular (SSCP/secuencuaci¢n) de los 10 exones con sus correspondientes regiones intrónicas flanqueantes, pero se identificaron mutaciones no sinónimas en las regiones codificantes, pero se identificaron 4 polimorfismos de nucleótido simple (SNP). El primer SNP representó una mutación silente p. P25P en el exon 1a, encontrada en 33,33 por ciento de los pacientes. El Segundo SNP: IVS3 + 13C > T (a 5 b de la secuencia consenso 5' del intrón) fue encontrado en 44,44 por ciento de los pacientes, mientras fué indentificado en 16,67 por ciento de los controles. El 33,33 por ciento de los pacientes presentaron simultáneamente ambas variantes, y aunque el 16,67 por ciento de los controles también poseían la misma combinación, el 66,66 por ciento de los pacientes con esos alelos tenían antecedentes familiares de autismo. El tercer y cuarto SNP: IVS5 + 40T > G e IVS7-7OA > G fueron identificados en dos pacientes diferentes. Ninguno de los 3 últimos SNPs ha sido reportado en la base de datos de SNP (dbSNO). La cercanía del SNP: IVS3 + 13C > T con la secuencia consenso y de interación con la nucleorribonucleoproteína U1, pudiera alterar la maduración normal del pre-ARNm, en concordancia con la evidencia de niveles bajos del receptor GABA-A en cerebros de pacientes con autismo, pudiendo entonces tratarse, de una variante común, que por sí sola.


Asunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Mutación , Polimorfismo de Nucleótido Simple , Trastorno Autístico/etiología , Genética Médica , Medicina , Venezuela
18.
Invest Clin ; 48(4): 459-68, 2007 Dec.
Artículo en Español | MEDLINE | ID: mdl-18271391

RESUMEN

Results from studies comparing boys and girls diagnosed as having Attention Deficit-Hyperactivity Disorder (ADHD) have been non conclusive. In general, the results of such studies report boys as being more hyperactive and presenting more conduct problems, and girls as having more cognitive and learning problems. The aim of this study was to collect information about the characterization of the disorder depending on the gender. 169 children (123 males, 46 females), between 4 and 13 years of age with ADHD were studied. The assessment battery included Conners' rating scales-Revised for parents and teachers, short forms of the Wechsler Intelligence Scale for Children-Third Edition (WISC-III) and Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R), academic achievement measures, developmental history and the Diagnostic Interview Schedule for Children-IV Version-Parents (DISC-IV). The results indicated the lack of significant differences between genders for the studied variables, ADHD boys and girls scored alike in the various behavioral and cognitive measures. The results presented describe homogeneity in the symptoms, demographic characteristics and neuropsychological functioning for children of both genders; suggesting a syndrome with the same criteria and independent of the gender.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Factores Sexuales , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/psicología , Niño , Preescolar , Escolaridad , Femenino , Humanos , Pruebas de Inteligencia , Discapacidades para el Aprendizaje/epidemiología , Discapacidades para el Aprendizaje/etiología , Discapacidades para el Aprendizaje/psicología , Masculino , Pruebas Neuropsicológicas , Padres/psicología , Inventario de Personalidad , Índice de Severidad de la Enfermedad , Factores Socioeconómicos , Venezuela/epidemiología
19.
J Neurosci Methods ; 161(1): 166-82, 2007 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-17150253

RESUMEN

In this paper, we present a method for the study of synchronization patterns measured from EEG scalp potentials in psychophysiological experiments. This method is based on various techniques: a time-frequency decomposition using sinusoidal filters which improve phase accuracy for low frequencies, a Bayesian approach for the estimation of significant synchrony changes, and a time-frequency-topography visualization technique which allows for easy exploration and provides detailed insights of a particular experiment. Particularly, we focus on in-phase synchrony using an instantaneous phase-lock measure. We also discuss some of the most common methods in the literature, focusing on their relevance to long-range synchrony analysis; this discussion includes a comparison among various synchrony measures. Finally, we present the analysis of a figure categorization experiment to illustrate our method.


Asunto(s)
Mapeo Encefálico , Corteza Cerebral/fisiología , Sincronización Cortical , Pruebas Neuropsicológicas , Psicofisiología/instrumentación , Psicofisiología/estadística & datos numéricos , Teorema de Bayes , Niño , Femenino , Humanos , Masculino , Modelos Neurológicos , Estimulación Luminosa/métodos , Procesamiento de Señales Asistido por Computador , Factores de Tiempo
20.
Invest Clin ; 47(4): 413-25, 2006 Dec.
Artículo en Español | MEDLINE | ID: mdl-17176909

RESUMEN

Multiple sclerosis (MS) is an autoimmune disease caused by the destruction of the myelin layer and the nervous fibers, and secondary by a progressive neuronal damage. It is characterized by episodes of demyelination disseminated in time and space in different areas of the white matter of the CNS which includes periventricular region, spinal cord, brain stem, cerebellum and optical nerve. Due to the confusing differential diagnosis of MS in children with other demyelinating diseases such as ADEM, it is important to reach this diagnosis when there is proof of white matter lesions disseminated in time and space that cannot be explained by any other mechanisms or pathologies. The goal of this paper is to review the diagnostic parameters used for MS in the pediatric age, the dilemmas regarding the validity of diagnostic criteria, clinical manifestations, differentiation of other demyelinating diseases, and the diagnostic process. MS although infrequent, is a valid diagnosis among the spectrum of childhood inflammatory demyelinating diseases. The clinical presentation might be indistinguishable from a multifocal acute disseminated encephalopathy or could be presented with just focal signs. A reasonable clinical judgment and the practice of laboratory tests confirm or rule out the diagnosis. It is not possible to differentiate between ADEM and MS in a first episode, nor by the clinical, the CSF, neither the neuroimaging. There are still needed consensus criteria both clinical and laboratory test. There are many question still to be answered using prospective studies, and standardized clinical measures that will allow the delimitation of the demographic, neurological, and neuropsychological aspects of the MS and other form of acquired demyelinating diseases in children.


Asunto(s)
Esclerosis Múltiple/diagnóstico , Enfermedad Aguda , Adolescente , Adulto , Factores de Edad , Anciano , Niño , Preescolar , Enfermedades Autoinmunes Desmielinizantes SNC/diagnóstico , Diagnóstico Diferencial , Encefalomielitis/diagnóstico , Femenino , Humanos , Masculino , Esclerosis Múltiple/epidemiología , Estudios Prospectivos , Factores Sexuales
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