Search results for " p300"

Visual Attention Study in Youth With Spastic Cerebral Palsy Using the Event-Related Potential Method

2011

Youth with mild spastic cerebral palsy (n = 14) and a peer control group were compared on an oddball paradigm. Here, visual stimuli were presented with low and high probability and participants were instructed to count in silence the number of rare stimuli. The infrequent stimulus typically elicits an enhanced frontal central N2 and a centroparietal P300 event-related brain potential, reflecting orientation and evaluation of stimulus novelty. No differences in latency and amplitude of the N2–P300 complex were found between the 2 groups, indicating that some fundamental attention processes are intact in youth with mild spastic cerebral palsy.

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

2019

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…

Rubinstein-Taybi syndrome (CREBBP, EP300)

2011

1.2 OMIM# of the disease180849.1.3 Name of the analyzed genes or DNA/chromosome segmentsCREBBP, EP300 (E1A binding protein p300).1.4 OMIM# of the genes600140 (CREBBP), 602700 (EP300).1.5 Mutational spectrumMainly frameshift, nonsense, splice site and missense mutations. Lessfrequently large deletions (one or more exons) and rarely balancedinversions and translocations. Mutations are heterozygous, and mosaicmutations have been described. At present, more than 100 pathogenicmutations are known for the two genes together, but mutations inEP300 are much less common (only 11 so far).

Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication

2019

P300-based brain computer interface experimental setup

2009

A Brain-Computer interface (BCI) is a communication system that enables the generation of a control signal from brain signals such as sensorymotor rhythms and evoked potentials; therefore, it constitutes a novel communication option for people with severe motor disabilities (such as Amyotrophic Lateral Sclerosis patients). This paper presents the development of a P300-based BCI. This prototype uses a homemade six-channel electroencephalograph for the acquisition of the signals, and a visual stimulation matrix; since this matrix contains letters of the alphabet as well as images associated to them, it permits word-writing and the elaboration of messages with the images. To process the signal…

NF-ĸB as node for signal amplification during weaning.

2011

Post-lactational involution has been reported to share common features with breast tumor development. A deep characterization of the signaling triggered after weaning would help to unveil the complex relationship between involution and breast cancer. NF-κB, a crucial factor in the involuting gland, might be an important regulatory node for signal amplification after weaning; however there is limited information about the identity of NF-κB-target genes and the molecular mechanisms leading to the selection of genes involved in a particular biological process. We identified 4532 target genes in mammary gland at 48h weaning, by genome-wide analysis of regions bound by RelA(p65)-NF-κB in vivo. I…

Effects of a Vibro-Tactile P300 Based Brain-Computer Interface on the Coma Recovery Scale-Revised in Patients With Disorders of Consciousness

2020

Persons diagnosed with disorders of consciousness (DOC) typically suffer from motor and cognitive disabilities. Recent research has shown that non-invasive brain-computer interface (BCI) technology could help assess these patients’ cognitive functions and command following abilities. 20 DOC patients participated in the study and performed 10 vibro-tactile P300 BCI sessions over 10 days with 8–12 runs each day. Vibrotactile tactors were placed on the each patient’s left and right wrists and one foot. Patients were instructed, via earbuds, to concentrate and silently count vibrotactile pulses on either their left or right wrist that presented a target stimulus and to ignore …

Utilidad de la onda P300 como marcador de fatiga cognitiva en médicos internos residentes tras una jornada laboral de 24 horas

2015

La onda P300 fue el primer potencial evocado cognitivo que se conoció, descrita en 1965 por Sutton et al. Se caracteriza por una gran onda positiva, máxima en línea media del cuero cabelludo, que aparece alrededor de 300 milisegundos después de un estímulo infrecuente y relevante para una tarea. Viene determinada por la latencia al pico máximo y por su amplitud, parámetros que pueden afectarse por la privación de sueño, como se ha visto en estudios previos. La afectación de las habilidades cognitivas que causan las guardias de 24 horas en los médicos internos residentes es un tema de interés por las implicaciones legales que tiene a la hora de regular las horas de trabajo de estos profesion…