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Background: There is an agreement among individuals from different cultures in how they judge the cuteness of a face. There are observations suggesting that some preferences may be neurobiological rather than cultural. Most of the studies conducted use adult faces with a neutral expression; however, the mechanisms involved in rating cuteness are not exactly the same as those involved in the perception of attractiveness. Furthermore, it is not always taken into account that emotional expressions influence the impression on the beauty of a face. The objective of the study is to evaluate the influence of the different emotions on the perception of cuteness of children's faces. Materials and Methods: We included 60 adults and 21 children who observed 150 photographs of children's faces expressing the six basic emotions and had to rate facial cuteness. Results: Participants gave the highest cuteness score to faces with happy emotions (mean [M] = 6.89, 95% confidence interval [CI] 6.48-7.30) and the lowest to those that expressed negative emotions (M = 5.32, 95% CI 4.87-5.78, t(160) = 5.08, P <.001). This was evidenced in adults and children of both genders, regardless of the gender of the stimulus. Conclusions: In our study, we found that facial expression generates an impact on the perception that a subject has on the cuteness of the face. The faces that show happiness were scored as more cute compared to those that expressed anger, disgust, or sadness. We suggest that expression of positive emotions, like a smile, could increase the conducts associated with caring, placing the child in a more favorable situation for the future.
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Emociones , Felicidad , Adulto , Niño , Humanos , Masculino , Femenino , Expresión Facial , Estimulación LuminosaRESUMEN
Introduction: Social distancing measures due to the COVID-19 pandemic prevented many children with neurodevelopmental disorders from accessing face-to-face treatments. Telerehabilitation grew at this time as an alternative therapeutic tool. In this study we analysed remote cognitive rehabilitation in neurodevelopmental disorders. Methods: This was a prospective, quasi-experimental (before-after) study that included 22 patients (mean age 9.41 years) with neurodevelopmental disorders who had telerehabilitation for over six months. Results: After six months of telerehabilitation, a statistically significant improvement was found with a large effect size in these areas: attention (sustained, selective and divided), executive functions (verbal and visual working memory, categorisation, processing speed), visuospatial skills (spatial orientation, perceptual integration, perception, simultanagnosia) and language (comprehensive and expressive). On the Weiss Functional Impairment Scale, all areas (family, learning and school, self-concept, activities of daily living, risk activities) improved with statistical significance. We found a positive correlation between the number of sessions and the improvement observed in executive functions (visual working memory, processing speed), attention (sustained attention, divided attention) and visuospatial skills (spatial orientation, perceptual integration, perception, simultanagnosia). We did not find statistical significance between the family structure and the number of sessions carried out. A high degree of perception of improvement and satisfaction was observed in the parents. Conclusions: Telerehabilitation is a safe alternative tool which, although it does not replace face-to-face therapy, can achieve significant cognitive and functional improvements in children with neurodevelopmental disorders.
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Developmental and epileptic encephalopathies (DEE) are complex pediatric epilepsies, in which heterogeneous pathogenic factors play an important role. Next-generation-sequencing based tools have shown excellent effectiveness. The constant increase in the number of new genotype-phenotype associations suggests the periodic need for re-interpretation and re-analysis of genetic studies without positive results. In this study, we report the diagnostic utility of targeted gene panel sequencing and whole exome sequencing in 55 Argentine subjects with DEE, focusing on the utility of re-interpretation and re-analysis of undetermined and negative genetic diagnoses. The new information in biomedical literature and databases was used for the re-interpretation. For re-analysis, sequencing data processing was repeated using updated bioinformatics tools. Initially, pathogenic variants were detected in 21 subjects (38%). After an average time of 29 months, 25% of the subjects without a genetic diagnosis were re-categorized as diagnosed. Finally, the overall diagnostic yield increased to 53% (29 subjects). In consequence of the re-interpretation and re-analysis, we identified novel variants in the genes: CHD2, COL4A1, FOXG1, GABRA1, GRIN2B, HNRNPU, KCNQ2, MECP2, PCDH19, SCN1A, SCN2A, SCN8A, SLC6A1, STXBP1 and WWOX. Our results expand the diagnostic yield of this subgroup of infantile and childhood seizures and demonstrate the importance of re-evaluation of genetic tests in subjects without an identified causative etiology.
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Encefalopatías/genética , Epilepsia/genética , Predisposición Genética a la Enfermedad/genética , Variación Genética/genética , Adolescente , Niño , Preescolar , Femenino , Estudios de Asociación Genética/métodos , Pruebas Genéticas/métodos , Genotipo , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Fenotipo , Secuenciación del Exoma/métodos , Adulto JovenRESUMEN
BACKGROUND: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dystonia. OBJECTIVES: The objective of this study was to conduct proteomic studies in cerebrospinal fluid (CSF) samples of patients with monoamine defects to detect biomarkers involved in pathophysiology, clinical phenotypes, and treatment response. METHODS: A total of 90 patients from diverse centers of the International Working Group on Neurotransmitter Related Disorders were included in the study (37 untreated before CSF collection, 48 treated and 5 unknown at the collection time). Clinical and molecular metadata were related to the protein abundances in the CSF. RESULTS: Concentrations of 4 proteins were significantly altered, detected by mass spectrometry, and confirmed by immunoassays. First, decreased levels of apolipoprotein D were found in severe cases of aromatic L-amino acid decarboxylase deficiency. Second, low levels of apolipoprotein H were observed in patients with the severe phenotype of tyrosine hydroxylase deficiency, whereas increased concentrations of oligodendrocyte myelin glycoprotein were found in the same subset of patients with tyrosine hydroxylase deficiency. Third, decreased levels of collagen6A3 were observed in treated patients with tetrahydrobiopterin deficiency. CONCLUSION: This study with the largest cohort of patients with monoamine defects studied so far reports the proteomic characterization of CSF and identifies 4 novel biomarkers that bring new insights into the consequences of early dopaminergic deprivation in the developing brain. They open new possibilities to understand their role in the pathophysiology of these disorders, and they may serve as potential predictors of disease severity and therapies. © 2020 International Parkinson and Movement Disorder Society.
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Errores Innatos del Metabolismo de los Aminoácidos , Trastornos Distónicos , Biomarcadores , Humanos , Proteómica , Índice de Severidad de la EnfermedadRESUMEN
La discapacidad es un problema de salud pública que afecta las oportunidades de desarrollo integral del individuo. El objetivo del trabajo fue estimar la prevalencia e incidencia anual y de las categorías diagnósticas asociadas a discapacidad total y por grupos etarios a partir de la tramitación del Certificado Único de Discapacidad. Estudio analítico de una cohorte de niños/as de 0 a 18 años perteneciente a un hospital universitario del Área Metropolitana de Buenos Aires, entre enero de 2010 y diciembre de 2017. Sobre un total de 22 750 afiliados activos, 726 pacientes tramitaron el Certificado Único de Discapacidad; la prevalencia fue del 3,2 % (IC 95 %: 2,9-3,4). La incidencia acumulada anual aumentó desde 2012 (0,22 %; IC 95 %: 0,1-0,19) hasta 2017 (0,59 %; IC 95 %: 0,5-0,7). Las discapacidades mentales constituyeron el 80 % (n = 576). En este estudio se observó un aumento de la incidencia de discapacidad y de la categoría de discapacidad mental.
Disability is a public health problem that affects an individual's comprehensive development opportunities. The objective of this study was to estimate the annual incidence and prevalence and the diagnostic categories associated with total disability and age groups based on the application for a Unique Certificate of Disability. This was an analytical cohort study in children aged 0-18 years conducted at a teaching hospital of the Metropolitan Area of Buenos Aires between January 2010 and December 2017. Among 22 750 active members, 726 patients applied for a Unique Certificate of Disability; the prevalence was 3.2 % (95 % confidence interval [CI]: 2.9-3.4). The annual cumulative incidence increased from 2012 (0.22 %, 95 % CI: 0.1-0.19) to 2017 (0.59 %, 95 % CI: 0.5-0.7). Mental disabilities accounted for 80 % (n = 576). This study showed an increase in the incidence of disability and also the mental disability category.
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Humanos , Lactante , Preescolar , Niño , Adolescente , Pediatría , Epidemiología , Personas con Discapacidad , Trastorno del Espectro Autista , Discapacidad IntelectualRESUMEN
Disability is a public health problem that affects an individual's comprehensive development opportunities. The objective of this study was to estimate the annual incidence and prevalence and the diagnostic categories associated with total disability and age groups based on the application for a Unique Certificate of Disability. This was an analytical cohort study in children aged 0-18 years conducted at a teaching hospital of the Metropolitan Area of Buenos Aires between January 2010 and December 2017. Among 22 750 active members, 726 patients applied for a Unique Certificate of Disability; the prevalence was 3.2 % (95 % confidence interval [CI]: 2.9-3.4). The annual cumulative incidence increased from 2012 (0.22 %, 95 % CI: 0.1-0.19) to 2017 (0.59 %, 95 % CI: 0.5-0.7). Mental disabilities accounted for 80 % (n = 576). This study showed an increase in the incidence of disability and also the mental disability category.
La discapacidad es un problema de salud pública que afecta las oportunidades de desarrollo integral del individuo. El objetivo del trabajo fue estimar la prevalencia e incidencia anual y de las categorías diagnósticas asociadas a discapacidad total y por grupos etarios a partir de la tramitación del Certificado Único de Discapacidad. Estudio analítico de una cohorte de niños/as de 0 a 18 años perteneciente a un hospital universitario del Área Metropolitana de Buenos Aires, entre enero de 2010 y diciembre de 2017. Sobre un total de 22 750 afiliados activos, 726 pacientes tramitaron el Certificado Único de Discapacidad; la prevalencia fue del 3,2 % (IC 95 %: 2,9-3,4). La incidencia acumulada anual aumentó desde 2012 (0,22 %; IC 95 %: 0,1-0,19) hasta 2017 (0,59 %; IC 95 %: 0,5-0,7). Las discapacidades mentales constituyeron el 80 % (n = 576). En este estudio se observó un aumento de la incidencia de discapacidad y de la categoría de discapacidad mental.
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Evaluación de la Discapacidad , Personas con Discapacidad/estadística & datos numéricos , Discapacidad Intelectual/epidemiología , Adolescente , Argentina , Niño , Preescolar , Estudios de Cohortes , Hospitales de Enseñanza , Humanos , Incidencia , Lactante , Recién Nacido , PrevalenciaAsunto(s)
Gónadas/metabolismo , Lamina Tipo A/genética , Mosaicismo , Distrofias Musculares/genética , Alelos , Estudios de Asociación Genética , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Distrofias Musculares/diagnóstico , LinajeRESUMEN
Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures. Their neurological examination and neuroimaging studies were normal. All three patients are currently seizure-free, in spite of initially experiencing frequent seizures. Complete exome sequencing revealed a new DEPDC5 gene mutation (NM_001242896: c.4718T>C; p.L1573P). This study of a family with clinical characteristics that met all the criteria for familial focal epilepsy with variable foci demonstrates the usefulness of exome sequencing as a diagnostic tool. [Published with video sequence on www.epilepticdisorders.com].
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Epilepsias Parciales/fisiopatología , Síndromes Epilépticos/fisiopatología , Proteínas Represoras/genética , Adulto , Edad de Inicio , Argentina , Niño , Electroencefalografía , Epilepsias Parciales/genética , Síndromes Epilépticos/genética , Femenino , Proteínas Activadoras de GTPasa , Genotipo , Humanos , Masculino , Mutación , Linaje , FenotipoRESUMEN
Malformations of cortical development are a frequent cause of drug-resistant Epilepsy and developmental delay. Hemimegalencephaly is a Malformation of cortical development characterized by enlargement of all or a part of one cerebral hemisphere. Germline and somatic mutation in genes belonging to the Mammalian Target of Rapamycin (mTOR) pathway has been identified in patients suffering from epilepsy secondary to Hemimegalencephaly and focal cortical dysplasia. We present here a patient suffering from severe neonatal Epilepsy since 3â¯h of life secondary to Hemimegalencephaly, requiring an anatomic hemispherectomy surgical procedure for seizure control, where by means of next-generation sequencing at an ultra-high depth coverage, we were able to identify a novel somatic mutation in the RHEB gene (NM_005614: c.119Aâ¯>â¯T: p. Glu40Val). The histopathological diagnosis was Cortical Dysplasia type IIB determined by the presence of dysmorphic neurons of variable size with nuclear alteration and balloon cells in the context of Hemimegalencephaly, which are similar to that have been demonstrated in hyperactivating RHEB models. This is the first report of a somatic mutation in RHEB gene in a patient suffering from Epilepsy secondary to Hemimegalencephaly. It highlights different current topics in the fields of genetics of Malformations of cortical development: a-somatic mosaicism is not uncommon in these neurodevelopmental disorders; b-the molecular diagnostic approach should involve the use of state-of-the-art methods and the sampling of different tissues; c-new findings might facilitate therapeutics discoveries while providing an improved understanding of normal brain development.
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Epilepsia Refractaria/genética , Hemimegalencefalia/genética , Malformaciones del Desarrollo Cortical/genética , Proteína Homóloga de Ras Enriquecida en el Cerebro/genética , Epilepsia Refractaria/patología , Femenino , Hemimegalencefalia/patología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Recién Nacido , Malformaciones del Desarrollo Cortical/patología , Mutación , Serina-Treonina Quinasas TOR/genéticaRESUMEN
RESUMEN INTRODUCCIÓN: La fluencia verbal es un test psicométrico breve utilizado en evaluaciones neuropsicológicas para estudiar funciones ejecutivas y verbales. El desempeño en la población pediátrica en esta prueba no ha sido profundamente estudiado. Tampoco encontramos estudios en pediatría que analicen la fluidez verbal fonológica (FF) en relación al nivel intelectual utilizando la versión española con letras iniciales "P" y "M". OBJETIVO: Analizar el rendimiento en FF en función del nivel intelectual y del diagnóstico. MÉTODO: Corte transversal. Se incluyeron pacientes entre 6 y 16 años con evaluación neuropsicológica con nivel intelectual (WISCIV) y FF (NEPSYII) entre enero y junio del 2016. Se realizó una regresión lineal simple para analizar la relación entre FF y el resto de las variables de estudio. RESULTADOS: Se incluyeron 95 pacientes, edad media de 10 años. La FF mostró correlación positiva con el nivel intelectual total (CIT) (r=3,71; p<0,001; IC95 % 2,77- 4,65). El 73 % de pacientes con FF normal tuvieron un CIT normal. La probabilidad de presentar un CIT descendido presentado una FF menor de 7 fue 5,5 veces mayor (OR=5,5 p<0,003; IC95 %=2,23-13,76). Quienes presentaron una FF descendida con CIT normal (n=19), El 80 % tenía diagnóstico de trastorno por déficit de atención (15/19) y 21 % dislexia (4/19). CONCLUSIONES: Nuestros resultados tienen una importante implicancia clínica, pues no siempre se dispone del acceso y tiempo necesario para realizar una evaluación neuropsicológica extensa. El presente trabajo demuestra que la prueba FF de rápida administración con letras "P" y "M" resulta una herramienta de screening neuropsicológica efectiva en revelar déficit no sólo en funciones ejecutivas y habilidades verbales, sino también en detectar el rendimiento intelectual descendido.
SUMMARY INTRODUCTION: Verbal fluency is a brief psychometric test used in neuropsychological assessments to study executive and verbal functions. Pediatric population performance in this trial has not been thoroughly studied. We also did not find studies in pediatrics that analyze the phonological verbal fluency (FF) in relation to the intellectual level using the Spanish version with initial letters "P" and "M". OBJECTIVE: Analyze FF performance based on intellectual level and diagnosis. METHODS: It's a cross-section research. We included patients between 6 and 16 years old with neuropsychological assessment with intellectual level (WISCIV) and FF (NEPSYII) between January and June of 2016. A simple linear regression was performed to analyze the relationship between FF and the rest of the variables. RESULTS: We included 95 patients, mean age of 10 years. The FF showed a positive correlation with the total intellectual level (ITC) (r = 3.71, p <0.001, 95% CI 2.77-4.65). The 73% of patients with normal FF had a normal ITC. The probability of showing a lower ITC when the FF was lower than 7 was 5.5 times greater (OR = 5.5, p <0.003, 95% CI = 2.23-13.76). Those who presented a lower FF with normal ITC (n = 19) 80% had diagnosis of Attention Deficit Disorder (15/19) and 21% dyslexia (4/19). CONCLUSIONS: Our results have important clinical implications because the access and time necessary for an extensive neuropsychological evaluation is not always available. The present research shows that FF of 2 minutes long with letters "P" and "M" is an effective neuropsychological screening tool in revealing deficit not only in executive functions and verbal abilities, but also in detecting decreased intellectual performance. Those patients with poor performance in this test should perform a complete neuropsychological assesment in order to clarify the diagnosis.
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Trastorno por Déficit de Atención con Hiperactividad , Trastornos del Habla , Dislexia , Inteligencia , Discapacidad Intelectual , Pruebas NeuropsicológicasRESUMEN
Epilepsy surgery in children with refractory epilepsy is one of the most effective methods to control seizures. The proper selection and assessment of surgery candidates is critical for surgical treatment to be adequately effective and safe. The purpose of this article is to describe our experience with 43 consecutive pediatric patients that underwent epilepsy surgery for refractory epilepsy between September 2005 and May 2014. Effectiveness, safety, and prognostic factors were analyzed. The median age was 12 years old at the time of surgery and 4.5 years old at epilepsy onset, with a latency period of up to 6 years until surgery. Since the surgery, the 43 patients have been in follow-up for a median of 5.4 years (±2.3 years). Resective surgery was performed in 32 patients and hemispherectomy, in 11 patients. To date, 62.8% of patients remain seizure-free. Abetterprognosis was observed in patients who underwent surgery with a duration of epilepsy of less than two years and in patients in whom a complete resection of the epileptogenic zone was achieved.
La cirugía de la epilepsia en niños con epilepsia refractaria es uno de los métodos más efectivos para obtener el control de crisis epilépticas. La apropiada selección y evaluación de los candidatos esfundamentalpara alcanzar una adecuada efectividad y seguridad del tratamiento quirúrgico. El objetivo es presentar nuestra experiencia con 43 pacientes pediátricos consecutivos sometidos a tratamiento quirúrgico de su epilepsia refractaria entre septiembre de 2005 y mayo de 2014. Se analizó la efectividad, la seguridad y los factores pronósticos. La mediana de edad de la cirugía fue de 12 años y la mediana de edad del inicio de la epilepsia fue 4,5 años, con una latencia hasta la cirugía de 6 años. Los 43 pacientes se encuentran en seguimiento con una mediana de 5,4 años (±2,3) desde la cirugía. Los procedimientos realizados fueron, en 32 pacientes, cirugías resectivas y, en 11, desconexiones hemisféricas. Un 62,8% de los pacientes permanecen libres de crisis. Los pacientes que se operaron con una duración de la epilepsia menor de 2 años y en los que se pudo realizar una resección completa del área epileptógena presentaron un mejor pronóstico.
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Epilepsia Refractaria/cirugía , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Masculino , Estudios Prospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder.
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Deleción Cromosómica , Cromosomas Humanos Par 5 , Síndromes Neurocutáneos/diagnóstico , Síndromes Neurocutáneos/genética , Proteína Activadora de GTPasa p120/genética , Vasos Sanguíneos/anomalías , Vasos Sanguíneos/metabolismo , Encéfalo/metabolismo , Encéfalo/patología , Encéfalo/fisiopatología , Niño , Progresión de la Enfermedad , Femenino , Eliminación de Gen , Humanos , Factores de Transcripción MEF2/deficiencia , Factores de Transcripción MEF2/genética , Síndromes Neurocutáneos/patología , Síndromes Neurocutáneos/fisiopatología , Penetrancia , Piel/irrigación sanguínea , Piel/metabolismo , Piel/patología , Proteína Activadora de GTPasa p120/deficienciaRESUMEN
Alexander disease is a rare, progressive, and generally fatal neurological disorder that results from dominant mutations affecting the coding region of GFAP, the gene encoding glial fibrillary acidic protein, the major intermediate filament protein of astrocytes in the CNS. A key step in pathogenesis appears to be the accumulation of GFAP within astrocytes to excessive levels. Studies using mouse models indicate that the severity of the phenotype correlates with the level of expression, and suppression of GFAP expression and/or accumulation is one strategy that is being pursued as a potential treatment. With the goal of identifying biomarkers that indirectly reflect the levels of GFAP in brain parenchyma, we have assayed GFAP levels in two body fluids in humans that are readily accessible as biopsy sites: CSF and blood. We find that GFAP levels are consistently elevated in the CSF of patients with Alexander disease, but only occasionally and modestly elevated in blood. These results provide the foundation for future studies that will explore whether GFAP levels can serve as a convenient means to monitor the progression of disease and the response to treatment.
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Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials.
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Adenosina Desaminasa/genética , Enfermedades Autoinmunes del Sistema Nervioso/diagnóstico , Enfermedades Autoinmunes del Sistema Nervioso/genética , ARN Helicasas DEAD-box/genética , Exodesoxirribonucleasas/genética , Proteínas de Unión al GTP Monoméricas/genética , Mutación , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/genética , Fenotipo , Fosfoproteínas/genética , Ribonucleasa H/genética , Estudios de Asociación Genética , Genotipo , Humanos , Helicasa Inducida por Interferón IFIH1 , Interferones/sangre , Interferones/líquido cefalorraquídeo , Pterinas/líquido cefalorraquídeo , Proteína 1 que Contiene Dominios SAM y HDRESUMEN
La dieta de Atkins modificada (DAM) es una alternativa dietaria terapéutica en el tratamiento de la epilepsia fármaco-resistente. Consiste en una dieta con un aporte de 60% de grasas, 30% de proteínas y 10% de carbohidratos. El objetivo es presentar una serie de 9 pacientes con diagnóstico de epilepsia refractaria de diferentes etiologías, que recibieron tratamiento con DAM en nuestro hospital. En nuestro grupo de 9 pacientes, obtuvimos resultados similares a los publicados por otros autores, con buena adherencia, tolerancia y respuesta. Del total de pacientes, dos lograron una reducción en más del 90% del número de crisis; cuatro, del 50-90%; dos, menos del 50% de control; y solo uno no presentó respuesta a la DAM. Ningún paciente presentó aumento del número de crisis, y fue bien tolerada en todos los casos
The modified Atkins diet (MAD) is an alternative therapeutic diet for the treatment of drug-resistant epilepsy. It consists of a diet with 60% energy from fat, 30% from protein, and 10% from carbohydrates. The objective of this article is to present a series of nine patients diagnosed with refractory epilepsy of different etiologies treated with the MAD at our hospital. In our group of nine patients, results obtained were similar to those published by other authors, with adequate adherence, tolerance and response. Of all patients, two achieved a reduction of more than 90% in the number of seizures; four experienced a reduction of 50-90%; two had a reduction of less than 50% in seizure control; and only one patient did not respond to the MAD. No patient had an increase in the number of seizures, and the diet was well-tolerated in all cases.
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Humanos , Masculino , Femenino , Preescolar , Niño , Adolescente , Adulto Joven , Dieta Baja en Carbohidratos , Epilepsia Refractaria/tratamiento farmacológicoRESUMEN
The modified Atkins diet (MAD) is an alternative therapeutic diet for the treatment of drug-resistant epilepsy. It consists of a diet with 60% energy from fat, 30% from protein, and 10% from carbohydrates. The objective of this article is to present a series of nine patients diagnosed with refractory epilepsy of different etiologies treated with the MAD at our hospital. In our group of nine patients, results obtained were similar to those published by other authors, with adequate adherence, tolerance and response. Of all patients, two achieved a reduction of more than 90% in the number of seizures; four experienced a reduction of 50-90%; two had a reduction of less than 50% in seizure control; and only one patient did not respond to the MAD. No patient had an increase in the number of seizures, and the diet was well-tolerated in all cases.
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Dieta Baja en Carbohidratos , Epilepsia Refractaria/dietoterapia , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.
Asunto(s)
3-Hidroxiacil-CoA Deshidrogenasas/deficiencia , Síndrome HELLP , Errores Innatos del Metabolismo/diagnóstico , 3-Hidroxiacil-CoA Deshidrogenasas/genética , 3-Hidroxiacil-CoA Deshidrogenasas/metabolismo , Femenino , Humanos , Lactante , 3-Hidroxiacil-CoA Deshidrogenasa de Cadena Larga , Espectroscopía de Resonancia Magnética , Masculino , Errores Innatos del Metabolismo/genética , Errores Innatos del Metabolismo/metabolismo , EmbarazoRESUMEN
La deficiencia de 3-hidroxiacil coA deshidrogenasa de cadena larga (LCHAD) es uno de los trastornos de la betaoxidación de ácidos grasos. La presentación clínica más frecuente incluye trastornos de conciencia, hipoglucemia y disfunción hepática gatillados por ayuno prolongado o infecciones. Una vez desencadenada, la crisis metabólica presenta alta mortalidad. El síndrome HELLP y la hepatitis grasa aguda del embarazo (AFLP) son trastornos del tercer trimestre del embarazo. Se ha asociado estas enfermedades durante la gestación con defectos hereditarios de la betaoxidación en el feto. Comunicamos el caso clínico de un trastorno de beta oxidación (deficiencia de LCHAD) asociado a HELLP materno. Describimos como hallazgos en la resonancia magnética espectroscópica un pico de ácido láctico y lípidos significativo. La pesquisa de estos trastornos de la betaoxidación al nacimiento, ante el antecedente de HELLP materno, permite el diagnóstico de la enfermedad previo al desarrollo de los síntomas.
LCHAD deficiency is a disorder of fatty acid beta oxidation. The most common clinical presentation includes disorders of consciousness, hypoglycemia and liver dysfunction triggered by prolonged fasting or infection. Once a metabolic crisis is triggered, there is a high mortality. HELLP syndrome and acute fatty liver failure of pregnancy (AFLP) are disorders of the third trimester of pregnancy. These diseases have been associated during pregnancy with hereditary defects of beta-oxidation in the fetus. We report a case of beta-oxidation disorder (LCHAD deficiency) associated with maternal HELLP. We described a peak of lipid and lactic on magnetic resonance spectroscopic of this patient. The investigation of these beta-oxidation disorders at birth, with a history of maternal HELLP, allows the diagnosis of the disease prior to developing symptoms.
Asunto(s)
Femenino , Humanos , Lactante , Masculino , Embarazo , /deficiencia , Síndrome HELLP , Errores Innatos del Metabolismo/diagnóstico , /genética , /metabolismo , Espectroscopía de Resonancia Magnética , Errores Innatos del Metabolismo/genética , Errores Innatos del Metabolismo/metabolismoRESUMEN
INTRODUCTION: Super-refractory status epilepticus is that which persists despite suitable treatment with multiple anti-convulsive schemes, including prolonged coma with general anaesthetic. Different pharmacological treatment schemes have been proposed in these patients, including the use of a ketogenic diet. PATIENTS AND METHODS: This study is a retrospective analysis of five patient records of children between 1 and 14 years of age, three of whom were diagnosed with FIRES (febrile infection-related epilepsy syndrome) and two with a diagnosis of refractory symptomatic partial epilepsy. The mean age was six years and the mean duration of the status epilepticus was 32 days. RESULTS: All the patients were given multiple therapeutic schemes; in all was obtained pharmacological coma with barbiturates to reach paroxysm-suppression pattern on electroencephalogram. Since the results of these strategies were not successful, a classical ketogenic diet was indicated. After starting the ketogenic diet, the clinical and electroencephalographic status epilepticus ceased in four patients with good tolerance. One patient did not respond and died. CONCLUSIONS: In patients with super-refractory status epilepticus, when different anticonvulsive schemes are unsuccessful, the ketogenic diet would be a good option. The ketogenic diet in this severe clinical situation is highly effective and safe.
Asunto(s)
Dieta Cetogénica , Estado Epiléptico/dietoterapia , Adolescente , Anticonvulsivantes/uso terapéutico , Malformación de Arnold-Chiari/complicaciones , Niño , Preescolar , Resistencia a Medicamentos , Epilepsias Parciales/complicaciones , Epilepsias Parciales/tratamiento farmacológico , Ayuno , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Convulsiones Febriles/complicaciones , Convulsiones Febriles/tratamiento farmacológico , Estado Epiléptico/etiología , Resultado del TratamientoRESUMEN
BACKGROUND: Radiofrequency thermorhizotomy of the trigeminal nerve is a known treatment of trigeminal neuralgia. Analysis of verbal responses to electric stimulation of the trigeminal rootlets has been the only method available to localize the affected branch, but patient discomfort may lead to unreliable verbal responses, resulting in increased morbidity or even therapeutic failure. Orthodromically elicited evoked potentials of the trigeminal nerve have also been used, but their application is tedious and results may vary. OBJECTIVE: To develop an electrophysiological method for intraoperative localization of the trigeminal nerve branches. METHODS: A series of 55 patients under general anesthesia during radiofrequency thermorhizotomy were studied. The trigeminal nerve root was stimulated through the foramen ovale with the RF electrode. Antidromic responses were recorded from the 3 divisions of the trigeminal nerve in the face. Effectiveness rate, pain relief, recurrence, complications, and patient comfort after the procedure were analyzed. RESULTS: Reproducible and easily obtained antidromic responses were clearly recorded in every subdivision of the trigeminal nerve in all patients. Ninety-four percent of patients experienced immediate pain relief after the procedure. The recurrence rate was 12.72%, and the surgical morbidity was 20%. CONCLUSION: This method proved to be useful to determine the exact localization of individual subdivisions of the trigeminal nerve in anesthetized patients, making this procedure safer and more comfortable for them.