RESUMEN
Eye-tracking to evaluate gaze patterns has developed as an assessment tool for children with autism spectrum disorder (ASD). Gazefinder is one of Eye-tracking devices and few studies have investigated whether it can measure the gaze data of infants under 12 months of age. We conducted a prospective cross-sectional study from April 2019 to March 2020 in a periodic health checkup in Ohchi County, Shimane, Japan. Participants included infants between 4 and 11 months of age who were not suspected the presence of developmental problems. Ninety-three participants' datapoints were analyzed. The mean age was 6.5 months and mean developmental quotient was 88%. The mean fixation time percentage of all sequences was 81.0% (standard deviation; 4.4), and there was no significant difference in each age group. Infants in all groups showed a significantly higher predilection for eyes than for mouths. There was a positive association of age with human gaze and a negative association with geometric gaze. Moreover, we confirmed that joint attention skills were enhanced in accordance with their growth process. The eye-tracking data were almost corresponding to previous studies' data of infant with typical development and Gazefinder could be applied to infants starting at 4 months of age.
Asunto(s)
Tecnología de Seguimiento Ocular/estadística & datos numéricos , Estudios Transversales , Estudios de Factibilidad , Femenino , Humanos , Lactante , Masculino , Estudios ProspectivosRESUMEN
A newly identified chemical, 4-{3-[(3,5-dichloro-2-hydroxybenzylidene)amino]propyl}-4,5-dihydro-1H-pyrazol-5-one (BAPP) was characterized as a plant immunity activator. BAPP enhanced disease resistance in rice against rice blast disease and expression of a defense-related gene without growth inhibition. Moreover, BAPP was able to enhance disease resistance in dicotyledonous tomato and Arabidopsis plants against bacterial pathogen without growth inhibition, suggesting that BAPP could be a candidate as an effective plant activator. Analysis using Arabidopsis sid2-1 and npr1-2 mutants suggested that BAPP induced systemic acquired resistance (SAR) by stimulating between salicylic acid biosynthesis and NPR1, the SA receptor protein, in the SAR signaling pathway.
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Arabidopsis/efectos de los fármacos , Arabidopsis/inmunología , Resistencia a la Enfermedad/efectos de los fármacos , Oryza/efectos de los fármacos , Oryza/inmunología , Pirazoles/farmacología , Solanum lycopersicum/efectos de los fármacos , Solanum lycopersicum/inmunología , Tiazoles/farmacología , Arabidopsis/crecimiento & desarrollo , Arabidopsis/microbiología , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Ascomicetos/patogenicidad , Resistencia a la Enfermedad/inmunología , Transferasas Intramoleculares/genética , Transferasas Intramoleculares/metabolismo , Solanum lycopersicum/crecimiento & desarrollo , Solanum lycopersicum/microbiología , Oryza/crecimiento & desarrollo , Oryza/microbiología , Enfermedades de las Plantas/microbiología , Plantas Modificadas Genéticamente , Pseudomonas syringae/patogenicidad , Ácido Salicílico/metabolismo , Transducción de Señal/efectos de los fármacosRESUMEN
Although there are many known Mendelian genes linked to epileptic or developmental and epileptic encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases and 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique to an individual are significantly overrepresented in EE/DEE, both in known EE/DEE genes and the other non-EE/DEE genes. Importantly, enrichment of dURVs in non-EE/DEE genes is significant, even in the subset of cases with diagnostic dURVs (P = 0.000215), suggesting oligogenic contribution of non-EE/DEE gene dURVs. Gene-based analysis identifies exome-wide significant (P = 2.04 × 10-6) enrichment of damaging de novo mutations in NF1, a gene primarily linked to neurofibromatosis, in infantile spasm. Together with accumulating evidence for roles of oligogenic or modifier variants in severe neurodevelopmental disorders, our results highlight genetic complexity in EE/DEE, and indicate that EE/DEE is not an aggregate of simple Mendelian disorders.
Asunto(s)
Variación Genética , Espasmos Infantiles/genética , Proteínas Adaptadoras del Transporte Vesicular/genética , Pueblo Asiatico/genética , Estudios de Casos y Controles , ADN (Citosina-5-)-Metiltransferasas/genética , Epilepsias Mioclónicas/genética , Factores de Intercambio de Guanina Nucleótido/genética , Humanos , Lactante , Japón , Síndrome de Lennox-Gastaut/genética , Modelos Logísticos , Mutación , Neurofibromina 1/genética , Polimorfismo de Nucleótido Simple , Análisis de Componente Principal , Canales Catiónicos TRPM/genética , Secuenciación del ExomaAsunto(s)
Anticonvulsivantes/uso terapéutico , Síndrome de Lennox-Gastaut/tratamiento farmacológico , Convulsiones/tratamiento farmacológico , Triazoles/uso terapéutico , Niño , Preescolar , Femenino , Humanos , Lactante , Síndrome de Lennox-Gastaut/complicaciones , Masculino , Convulsiones/etiología , Factores de Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVE: We investigated the contribution of antibodies against N-methyl-d-aspartate (NMDA)-type glutamate receptor (GluR) in cerebrospinal fluid (CSF) to the clinical features of patients with epileptic spasms (ES). METHODS: CSF samples were collected from 33 patients with ES with median (range) age 1.8 (0.2-8.5) years. Thirty patients without ES with 3.5 (0.5-7.0) years were also studied as disease controls. The CSF levels of antibodies against peptides of NMDA-type GluR subunits (GluN2B & GluN1) were measured by enzyme-linked immunosorbent assay. RESULTS: The levels of antibodies against the n-terminal of GluN2B (GluN2B-NT2), c-terminal of GluN2B (GluN2B-CT) and n-terminal of GluN1 (GluN1-NT), were significantly higher in patients with ES than in disease controls (p < 0.01, p < 0.01 & p = 0.03). Levels of antibodies to GluN2B-NT2 & CT were not related with ACTH therapy nor conventional CSF factors (cell counts, protein level, etc). Levels of antibodies to GluN2B-NT2 & CT showed evidence of correlation within a linear regression model with intervals from the onset to the examination of CSF until 25 months (p = 0.01 & p = 0.01). The correlation was significant in patients with unknown cause (p = 0.01). Five of 33 patients (four unknown cause & one chromosomal anomaly) had higher level of antibodies to GluN2B-NT2 exceeding mean + 1 SD of all ES patients, and they had poor motor (score 0) and cognitive outcomes (score 0 or 1). CONCLUSION: The CSF level of antibodies against GluN2B in ES patients with unknown cause was estimated to increase after onset. We hypothesize that some ES patients may have immune process after the onset of ES.
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Autoanticuerpos/líquido cefalorraquídeo , Subunidades de Proteína/inmunología , Receptores de N-Metil-D-Aspartato/inmunología , Espasmos Infantiles/inmunología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Espasmos Infantiles/líquido cefalorraquídeoRESUMEN
Rotavirus and norovirus are common pathogens associated with gastroenteritis in children. Although rotavirus occasionally induces central nervous system disease, only 3 cases with rotavirus-induced acute myositis have been reported in the English literature. We recently treated a female patient with acute myositis associated with gastroenteritis induced by concurrent infection with rotavirus and norovirus. Having suffered from gastroenteritis for 3 days, she suddenly developed myositis affecting her lower extremities with concomitant creatine kinase elevation. Herein, we present our patient and review the previous cases including those reported in the Japanese literature.
RESUMEN
Adverse effects of antiepileptic drugs are classified into idiosyncratic adverse effects, pharmacology-related adverse effects and biological effect after modification of seizure frequencies. Pharmacology-related adverse effects include those by administered AED and those by mutual interactions. Stevens-Johnson syndrome, one of the idiosyncratic adverse effects, may be predicted by the intrinsic HLA type (e.g., A*31:01 for CBZ). In epileptic patients after acute encephalitis, cutaneous adverse reactions usually occur in a month after encephalitis, but some patients will tolerate the causative AED by the extremely slow re-introduction. Prevention of pharmacology-related adverse effects needs therapeutic drug monitoring, and slow introduction considering dose-response curves for AEDs. Genotype examination of CYP2C9 and 2C19 can contribute to the safe introduction of PHT.
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Anticonvulsivantes/efectos adversos , Anemia Aplásica/inducido químicamente , Anemia Aplásica/prevención & control , Anticonvulsivantes/administración & dosificación , Hidrocarburo de Aril Hidroxilasas/genética , Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Enfermedad Hepática Inducida por Sustancias y Drogas/prevención & control , Citocromo P-450 CYP2C19 , Citocromo P-450 CYP2C9 , Monitoreo de Drogas , Encefalitis/inducido químicamente , Encefalitis/prevención & control , Genotipo , Antígenos HLA , Humanos , Índice de Severidad de la Enfermedad , Síndrome de Stevens-Johnson/etiología , Síndrome de Stevens-Johnson/genética , Síndrome de Stevens-Johnson/prevención & controlRESUMEN
Novel vitamin D analogs, 1alpha, 25-dihydroxyvitamin D(3)-26, 23-lactam (DLAMs) with a lactam moiety in the side chain, were synthesized and examined for their function in bone. In computer docking simulation, DLAM-1P binds to vitamin D receptor (VDR), and its lactam moiety may interfere with VDR helix-12 folding. In co-cultures of mouse bone marrow cells and osteoblasts, (23S,25S)-DLAM-1P dose-dependently suppressed osteoclast differentiation induced by 1alpha, 25-dihydroxyvitamin D(3) [1alpha, 25(OH)(2)D(3)]. Its stereoisomer (23R,25R)-DLAM-1P did not affect the osteoclast differentiation. In osteoblasts, (23S,25S)-DLAM-1P suppressed 1alpha, 25(OH)(2)D(3)-induced mRNA expression of the receptor activator of NF-kappaB ligand (RANKL). In an organ culture using mouse calvaria, bone-resorbing activity induced by 1alpha, 25(OH)(2)D(3) was clearly suppressed by (23S,25S)-DLAM-1P. The other analog, (23S,25S)-DLAM-2P, showed a similar activity to (23S,25S)-DLAM-1P. Therefore, DLAMs act on osteoblasts as an antagonist of 1alpha, 25(OH)(2)D(3) to suppress RANKL-dependent osteoclast formation, suggesting them as a novel candidate for the treatment of pathological bone loss.