Resumen La epilepsia mioclónica juvenil (EMJ) es un síndrome hereditario no progresivo caracteriz... more Resumen La epilepsia mioclónica juvenil (EMJ) es un síndrome hereditario no progresivo caracterizado por convulsiones con sacudidas mioclónicas bilaterales, únicas o repetitivas, de predominio en brazos. Objetivo: Analizar las características clínicas y electroencefalográficas en pacientes con diagnóstico de EMJ. Metodología: Se revisaron las historias clínicas de 13 pacientes evaluados en el Hospital Clínico de Maracaibo entre 1990 y 1999 quienes reunieron los criterios diagnósticos de EMJ. Analizamos los siguientes parámetros clínicos y electroencefalográficos: sexo, antecedentes personales y familiares, edad de comienzo, semiología, distribución, duración y frecuencia de las crisis, examen neurológico, tiempo de seguimiento y evolución. Resultados: Nueve pacientes eran varones (69,2%) y 4 mujeres (30,8%). Tiempo de seguimiento de 2 a 9 años (promedio 4.3 años). Las convulsiones se iniciaron entre los 12 y 16 años, con una edad promedio de 14 años. Las crisis fueron tónicoclónicas generalizadas en el 100% de los casos. Todos los pacientes presentaron sacudidas mioclónicas matutinas y el examen neurológico resultó normal. Tres pacientes tenían antecedentes personales de convulsiones febriles y cuatro tenían antecedentes familiares de epilepsia. El estudio electroencefalográfico (EEG) interictal fue anormal en todos los casos revelando un patrón de descargas de punta-onda o polipunta-onda con distribución generalizada. Conclusiones: La EMJ representa una forma de epilepsia de comienzo en la adolescencia que afecta con mayor frecuencia a varones y está asociada a una historia familiar de convulsiones. Su curso es benigno en la mayoría de los pacientes tratados con valproato, pero las recidivas son comunes al descontinuar la medicación. Palabras clave. Adolescentes, epilepsia, convulsiones mioclónicas, valproato.
Resumen. El autismo es un trastorno del desarrollo caracterizado por deterioro de la interacción ... more Resumen. El autismo es un trastorno 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 (ligamiento y ...
Abstract. Multiple sclerosis (MS) is an autoimmune disease caused by the destruction of the myeli... more Abstract. 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 ...
El trastorno por déficit de atención/ hiperactividad (TDAH) es una enfermedad que afecta tanto a ... more El trastorno por déficit de atención/ hiperactividad (TDAH) es una enfermedad que afecta tanto a niños, adolescentes y adultos en todo el mundo, la cual ha sido mal diagnosticada por la dificultad de realizarlo, no se cuentan con exámenes de gabinete para esto, lo cual lo hace aun mas difícil. Presenta una etiología multifactorial y se presenta con mucha frecuencia junto con otros trastornos psiquiátricos. Lo cual afecta de forma importante la vida del paciente, lo cual hace primordial su estudio.
This study reports the findings of a research project aimed at determining the rate of prevalence... more This study reports the findings of a research project aimed at determining the rate of prevalence of attention deficit hyperactivity disorder (ADHD) in school-aged children. Patients and methods. Different behavioural and cognitive measures were administered to a sample of children between 3 and 13 years of age obtained by means of a multistage sampling procedure that was stratified by socioeconomic and educational level. The sample was made up of 394 children; 33.25% (n = 131) were females and the remaining 66.75% (n = 263) males. The mean age of the sample was 7.64 years old (SD: 2.33). The assessment battery included the Conners' Rating Scales adapted for parents and teachers, the abbreviated version of the Wechsler Intelligence Scale for Children (WISC-III) and for Preschool children-Revised (WPPSI-R), several academic achievement scales, development history and DISC-IV. Results. The estimated prevalence of ADHD was 10.15%, and a figure of 2.03% was obtained for the hyperactive type, 0.51% for the inattentive subtype, and 7.61% for the combined subtype. Prevalence was higher for males, the ratio being 3:1. Subjects' performance in the cognitive and academic measures was within the average interval. Conclusions. The prevalence of ADHD in our population oscillates around the average figures reported in other countries. This study confirms the prevalence of ADHD in the population of Venezuela, with a distribution of subtypes and in terms of gender similar to those reported in the literature.
Palabras clave: trastorno por déficit de atención-hiperactividad, trastornos del espectro autista... more Palabras clave: trastorno por déficit de atención-hiperactividad, trastornos del espectro autista, trastornos generalizados del desarrollo, autismo, TEA, TDAH, comorbilidad 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-Hipe-ractividad (TDAH). Dicha exclusión ha ocasionado controversia e interrogan-tes con respecto a la necesidad y el beneficio de mantener o no estas separa-ciones; 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 consider...
The attention deficit hyperactivity disorder (ADHD) has been defined as a disorder of self contro... more The attention deficit hyperactivity disorder (ADHD) has been defined as a disorder of self control characterized clinically by a short attention span, excessive motor activity and poor impulse control. The main objective is to describe how methodological difficulties related to the design of epidemiological studies make an important contribution to the group of heterogeneous data which might lead to doubts regarding the validity of ADHD in children. In recent decades the psychiatric definition of this disorder has varied. This has affected the number and combination of clinical signs necessary for diagnosis of ADHD. The variation in the prevalence rates of the disorder reported in different studies is largely due to these changes. Other factors involved are related to the assessment methods, the type of sample (clinical or community), the source of information (parents, teachers and/or children) and sociocultural characteristics. ADHD is a valid disorder. It cannot be considered to ...
This study gives information about a parent training program and a clinical trial with a stimulan... more This study gives information about a parent training program and a clinical trial with a stimulant drug (methylphenidate) to reduce the symptoms of attention deficit hiperactivity disorder (ADHD) in a group of children in Venezuela. 24 children, aged between 6 and 10 years and diagnosed as having ADHD, identified in ADHD screening days, were randomly assigned to two groups of treatment: parent training and a stimulant drug (methylphenidate). Both groups showed an improvement in their symptoms, to different degrees, after treatment. The differences were statistically significant, as evaluated by their parents, regarding the symptoms of inattention, hyperactivity and impulsivity. The teachers observed a significant improvement for the medication group with respect to the symptoms of hyperactivity and impulsivity, but no change in the inattention, whilst in the parent training group there was only significant difference in the ADHD index. There was no difference in the effectiveness of...
Multiple sclerosis (MS) is an autoimmune disease caused by the destruction of the myelin layer an... more 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 spe...
Multiple sclerosis (MS), a chronic inflammatory autoimmune disease of the central nervous system ... more Multiple sclerosis (MS), a chronic inflammatory autoimmune disease of the central nervous system (CNS) commonly diagnosed in adults, is being recognized increasingly in children. An estimated 1.7%–5.6% of all patients with MS have clinical symptoms before reaching the age of 18 years. In comparison with adults, the diagnosis of MS in children can be more difficult, being dismissed or misdiagnosed as other clinical disorders. Although adults and children share basic aspects of the disorder, children have distinctive clinical features, neuroimaging, laboratory, and courses of the disease. The 2010 McDonald criteria have simplified the requirements for establishing the diagnosis of MS and have been proposed to be applicable for the diagnosis of pediatric MS, mainly in children 12 years and older. This paper describes the distinctive features of common pediatric demyelinating disorders, including MS, and summarizes the most recent advances based on the available literature.
Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction... more 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 secon...
A total of 1,535 4-12 year-old children were screened with the Conners' rating scales, followed b... more 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.
In order to compare and contrast the efficacy of haloperidol, carbamazepine, and valproic acid in... more In order to compare and contrast the efficacy of haloperidol, carbamazepine, and valproic acid in the treatment of Sydenham´s chorea a prospective study including 18 cases of this disorder was undertaken. Age of patients ranged from 7 to 15 years. Ten children were female and 8 were male. All but one had generalized, either symmetric or asymmetric chorea. The patients were divided in three equal groups, and were given a standardized dose of each of the drugs built-up over a week. Following therapy, the six children receiving valproic acid showed remarkable improvement, without side effects. Five patients receiving carbamazepine showed improvement without side effects. Only three of the patients that received haloperidol improved. In the 4 cases that did not show clinical improvement after one week of treatment, therapy with valproic acid led to disappearance of the symptoms in a lapse that ranged from 4 to 7 days. Recurrence related to discontinuation of treatment was observed in tw...
Resumen El efecto del clima familiar en el desarrollo del trastorno por déficit de aten-ción-hipe... more Resumen El efecto del clima familiar en el desarrollo del trastorno por déficit de aten-ción-hiperactividad (TDAH) no se conoce. En este estudio se busca caracterizar a las familias con niños con TDAH para tener un mejor entendimiento de las con-tribuciones del clima familiar en el ...
OBJECTIVE: To describe the epidemiological and clinical characteristics of Venezuelan pediatric p... more 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 pre...
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2000
The mutation analysis of Duchenne/Becker muscular dystrophy (DMD/BMD) is made difficult by the si... more The mutation analysis of Duchenne/Becker muscular dystrophy (DMD/BMD) is made difficult by the size and structure of the gene. The dystrophin gene deletion is responsible for 45-58% of DMD/BMD cases in Taiwan. For the others, who have no deletions, carrier detection was performed by DNA linkage analysis. To determine frequencies of each allele and heterozygosity of each short tandem repeats (STR) marker, we analyzed 50 unrelated Taiwanese males and 50 unrelated Taiwanese females unaffected by DMD/BMD using ten fluorescently labeled intragenic markers (these ten being located in 5' terminus, intron 1, 44, 45, 48, 49, 50, 55-57 and 3' untranslated region of the human dystrophin gene). The predicted heterozygosity frequency is 46.7-88.3% in our study population and these STR markers are quite informative for linkage analysis. Using these ten intragenic STR markers, we analyzed 14 DMD/BMD families with 62 family members for carrier detection. Our retrospective study of DMD/BMD f...
Resumen La epilepsia mioclónica juvenil (EMJ) es un síndrome hereditario no progresivo caracteriz... more Resumen La epilepsia mioclónica juvenil (EMJ) es un síndrome hereditario no progresivo caracterizado por convulsiones con sacudidas mioclónicas bilaterales, únicas o repetitivas, de predominio en brazos. Objetivo: Analizar las características clínicas y electroencefalográficas en pacientes con diagnóstico de EMJ. Metodología: Se revisaron las historias clínicas de 13 pacientes evaluados en el Hospital Clínico de Maracaibo entre 1990 y 1999 quienes reunieron los criterios diagnósticos de EMJ. Analizamos los siguientes parámetros clínicos y electroencefalográficos: sexo, antecedentes personales y familiares, edad de comienzo, semiología, distribución, duración y frecuencia de las crisis, examen neurológico, tiempo de seguimiento y evolución. Resultados: Nueve pacientes eran varones (69,2%) y 4 mujeres (30,8%). Tiempo de seguimiento de 2 a 9 años (promedio 4.3 años). Las convulsiones se iniciaron entre los 12 y 16 años, con una edad promedio de 14 años. Las crisis fueron tónicoclónicas generalizadas en el 100% de los casos. Todos los pacientes presentaron sacudidas mioclónicas matutinas y el examen neurológico resultó normal. Tres pacientes tenían antecedentes personales de convulsiones febriles y cuatro tenían antecedentes familiares de epilepsia. El estudio electroencefalográfico (EEG) interictal fue anormal en todos los casos revelando un patrón de descargas de punta-onda o polipunta-onda con distribución generalizada. Conclusiones: La EMJ representa una forma de epilepsia de comienzo en la adolescencia que afecta con mayor frecuencia a varones y está asociada a una historia familiar de convulsiones. Su curso es benigno en la mayoría de los pacientes tratados con valproato, pero las recidivas son comunes al descontinuar la medicación. Palabras clave. Adolescentes, epilepsia, convulsiones mioclónicas, valproato.
Resumen. El autismo es un trastorno del desarrollo caracterizado por deterioro de la interacción ... more Resumen. El autismo es un trastorno 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 (ligamiento y ...
Abstract. Multiple sclerosis (MS) is an autoimmune disease caused by the destruction of the myeli... more Abstract. 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 ...
El trastorno por déficit de atención/ hiperactividad (TDAH) es una enfermedad que afecta tanto a ... more El trastorno por déficit de atención/ hiperactividad (TDAH) es una enfermedad que afecta tanto a niños, adolescentes y adultos en todo el mundo, la cual ha sido mal diagnosticada por la dificultad de realizarlo, no se cuentan con exámenes de gabinete para esto, lo cual lo hace aun mas difícil. Presenta una etiología multifactorial y se presenta con mucha frecuencia junto con otros trastornos psiquiátricos. Lo cual afecta de forma importante la vida del paciente, lo cual hace primordial su estudio.
This study reports the findings of a research project aimed at determining the rate of prevalence... more This study reports the findings of a research project aimed at determining the rate of prevalence of attention deficit hyperactivity disorder (ADHD) in school-aged children. Patients and methods. Different behavioural and cognitive measures were administered to a sample of children between 3 and 13 years of age obtained by means of a multistage sampling procedure that was stratified by socioeconomic and educational level. The sample was made up of 394 children; 33.25% (n = 131) were females and the remaining 66.75% (n = 263) males. The mean age of the sample was 7.64 years old (SD: 2.33). The assessment battery included the Conners' Rating Scales adapted for parents and teachers, the abbreviated version of the Wechsler Intelligence Scale for Children (WISC-III) and for Preschool children-Revised (WPPSI-R), several academic achievement scales, development history and DISC-IV. Results. The estimated prevalence of ADHD was 10.15%, and a figure of 2.03% was obtained for the hyperactive type, 0.51% for the inattentive subtype, and 7.61% for the combined subtype. Prevalence was higher for males, the ratio being 3:1. Subjects' performance in the cognitive and academic measures was within the average interval. Conclusions. The prevalence of ADHD in our population oscillates around the average figures reported in other countries. This study confirms the prevalence of ADHD in the population of Venezuela, with a distribution of subtypes and in terms of gender similar to those reported in the literature.
Palabras clave: trastorno por déficit de atención-hiperactividad, trastornos del espectro autista... more Palabras clave: trastorno por déficit de atención-hiperactividad, trastornos del espectro autista, trastornos generalizados del desarrollo, autismo, TEA, TDAH, comorbilidad 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-Hipe-ractividad (TDAH). Dicha exclusión ha ocasionado controversia e interrogan-tes con respecto a la necesidad y el beneficio de mantener o no estas separa-ciones; 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 consider...
The attention deficit hyperactivity disorder (ADHD) has been defined as a disorder of self contro... more The attention deficit hyperactivity disorder (ADHD) has been defined as a disorder of self control characterized clinically by a short attention span, excessive motor activity and poor impulse control. The main objective is to describe how methodological difficulties related to the design of epidemiological studies make an important contribution to the group of heterogeneous data which might lead to doubts regarding the validity of ADHD in children. In recent decades the psychiatric definition of this disorder has varied. This has affected the number and combination of clinical signs necessary for diagnosis of ADHD. The variation in the prevalence rates of the disorder reported in different studies is largely due to these changes. Other factors involved are related to the assessment methods, the type of sample (clinical or community), the source of information (parents, teachers and/or children) and sociocultural characteristics. ADHD is a valid disorder. It cannot be considered to ...
This study gives information about a parent training program and a clinical trial with a stimulan... more This study gives information about a parent training program and a clinical trial with a stimulant drug (methylphenidate) to reduce the symptoms of attention deficit hiperactivity disorder (ADHD) in a group of children in Venezuela. 24 children, aged between 6 and 10 years and diagnosed as having ADHD, identified in ADHD screening days, were randomly assigned to two groups of treatment: parent training and a stimulant drug (methylphenidate). Both groups showed an improvement in their symptoms, to different degrees, after treatment. The differences were statistically significant, as evaluated by their parents, regarding the symptoms of inattention, hyperactivity and impulsivity. The teachers observed a significant improvement for the medication group with respect to the symptoms of hyperactivity and impulsivity, but no change in the inattention, whilst in the parent training group there was only significant difference in the ADHD index. There was no difference in the effectiveness of...
Multiple sclerosis (MS) is an autoimmune disease caused by the destruction of the myelin layer an... more 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 spe...
Multiple sclerosis (MS), a chronic inflammatory autoimmune disease of the central nervous system ... more Multiple sclerosis (MS), a chronic inflammatory autoimmune disease of the central nervous system (CNS) commonly diagnosed in adults, is being recognized increasingly in children. An estimated 1.7%–5.6% of all patients with MS have clinical symptoms before reaching the age of 18 years. In comparison with adults, the diagnosis of MS in children can be more difficult, being dismissed or misdiagnosed as other clinical disorders. Although adults and children share basic aspects of the disorder, children have distinctive clinical features, neuroimaging, laboratory, and courses of the disease. The 2010 McDonald criteria have simplified the requirements for establishing the diagnosis of MS and have been proposed to be applicable for the diagnosis of pediatric MS, mainly in children 12 years and older. This paper describes the distinctive features of common pediatric demyelinating disorders, including MS, and summarizes the most recent advances based on the available literature.
Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction... more 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 secon...
A total of 1,535 4-12 year-old children were screened with the Conners' rating scales, followed b... more 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.
In order to compare and contrast the efficacy of haloperidol, carbamazepine, and valproic acid in... more In order to compare and contrast the efficacy of haloperidol, carbamazepine, and valproic acid in the treatment of Sydenham´s chorea a prospective study including 18 cases of this disorder was undertaken. Age of patients ranged from 7 to 15 years. Ten children were female and 8 were male. All but one had generalized, either symmetric or asymmetric chorea. The patients were divided in three equal groups, and were given a standardized dose of each of the drugs built-up over a week. Following therapy, the six children receiving valproic acid showed remarkable improvement, without side effects. Five patients receiving carbamazepine showed improvement without side effects. Only three of the patients that received haloperidol improved. In the 4 cases that did not show clinical improvement after one week of treatment, therapy with valproic acid led to disappearance of the symptoms in a lapse that ranged from 4 to 7 days. Recurrence related to discontinuation of treatment was observed in tw...
Resumen El efecto del clima familiar en el desarrollo del trastorno por déficit de aten-ción-hipe... more Resumen El efecto del clima familiar en el desarrollo del trastorno por déficit de aten-ción-hiperactividad (TDAH) no se conoce. En este estudio se busca caracterizar a las familias con niños con TDAH para tener un mejor entendimiento de las con-tribuciones del clima familiar en el ...
OBJECTIVE: To describe the epidemiological and clinical characteristics of Venezuelan pediatric p... more 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 pre...
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi, 2000
The mutation analysis of Duchenne/Becker muscular dystrophy (DMD/BMD) is made difficult by the si... more The mutation analysis of Duchenne/Becker muscular dystrophy (DMD/BMD) is made difficult by the size and structure of the gene. The dystrophin gene deletion is responsible for 45-58% of DMD/BMD cases in Taiwan. For the others, who have no deletions, carrier detection was performed by DNA linkage analysis. To determine frequencies of each allele and heterozygosity of each short tandem repeats (STR) marker, we analyzed 50 unrelated Taiwanese males and 50 unrelated Taiwanese females unaffected by DMD/BMD using ten fluorescently labeled intragenic markers (these ten being located in 5' terminus, intron 1, 44, 45, 48, 49, 50, 55-57 and 3' untranslated region of the human dystrophin gene). The predicted heterozygosity frequency is 46.7-88.3% in our study population and these STR markers are quite informative for linkage analysis. Using these ten intragenic STR markers, we analyzed 14 DMD/BMD families with 62 family members for carrier detection. Our retrospective study of DMD/BMD f...
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