6 research outputs found

    Ictal crying

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    PURPOSE: The purpose of this study was to describe a series of patients with ictal crying to estimate its occurrence and characterize the clinical features and the underlying etiology. METHODS: We retrospectively reviewed all the long-term video-EEG reports from Jefferson Comprehensive Epilepsy Center over a 12-year period (2004-2015) for the occurrence of the terms cry or sob or weep in the text body. All the extracted reports were reviewed, and patients with at least one episode of documented ictal crying at the epilepsy monitoring unit (EMU) were included in the study. RESULTS: During the study period, 5133 patients were investigated at our EMU. Thirty-two patients (0.6%) had at least one documented seizure accompanied by crying. Twenty-seven patients (26 women and one man) had psychogenic nonepileptic seizures (PNES), and five patients (0.1%) had epilepsy. Among patients with epileptic ictal crying, four patients had focal epilepsy (two had definite, and two had probable frontal lobe epilepsy), while one patient had Lennox-Gastaut syndrome. CONCLUSION: Ictal crying is a rare finding among patients evaluated at the EMUs. The most common underlying etiology for ictal crying is PNES. However, ictal crying is not a specific sign for PNES. Epileptic ictal crying is often a rare type of partial seizure in patients with focal epilepsy. Dacrystic seizures do not provide clinical value in predicting localization of the epileptogenic zone

    Ictal verbal help-seeking: Occurrence and the underlying etiology.

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    PURPOSE: Ictal verbal help-seeking has never been systematically studied before. In this study, we evaluated a series of patients with ictal verbal help-seeking to characterize its frequency and underlying etiology. METHODS: We retrospectively reviewed all the long-term video-EEG reports from Jefferson Comprehensive Epilepsy Center over a 12-year period (2004-2015) for the occurrence of the term help in the text body. All the extracted reports were reviewed and patients with at least one episode of documented ictal verbal help-seeking in epilepsy monitoring unit (EMU) were studied. For each patient, the data were reviewed from the electronic medical records, EMU report, and neuroimaging records. RESULTS: During the study period, 5133 patients were investigated in our EMU. Twelve patients (0.23%) had at least one episode of documented ictal verbal help-seeking. Nine patients (six women and three men) had epilepsy and three patients (two women and one man) had psychogenic nonepileptic seizures (PNES). Seven out of nine patients with epilepsy had temporal lobe epilepsy; six patients had right temporal lobe epilepsy. CONCLUSION: Ictal verbal help-seeking is a rare finding among patients evaluated in epilepsy monitoring units. Ictal verbal help-seeking may suggest that seizures arise in or propagate to the right temporal lobe

    AR2, a novel automatic muscle artifact reduction software method for ictal EEG interpretation: Validation and comparison of performance with commercially available software.

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    Objective: To develop a novel software method (AR2) for reducing muscle contamination of ictal scalp electroencephalogram (EEG), and validate this method on the basis of its performance in comparison to a commercially available software method (AR1) to accurately depict seizure-onset location. Methods: A blinded investigation used 23 EEG recordings of seizures from 8 patients. Each recording was uninterpretable with digital filtering because of muscle artifact and processed using AR1 and AR2 and reviewed by 26 EEG specialists. EEG readers assessed seizure-onset time, lateralization, and region, and specified confidence for each determination. The two methods were validated on the basis of the number of readers able to render assignments, confidence, the intra-class correlation (ICC), and agreement with other clinical findings. Results: Among the 23 seizures, two-thirds of the readers were able to delineate seizure-onset time in 10 of 23 using AR1, and 15 of 23 using AR2 (

    The clonal and mutational evolution spectrum of primary triple-negative breast cancers

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    Primary triple-negative breast cancers (TNBCs), a tumour type defined by lack of oestrogen receptor, progesterone receptor and ERBB2 gene amplification, represent approximately 16% of all breast cancers. Here we show in 104 TNBC cases that at the time of diagnosis these cancers exhibit a wide and continuous spectrum of genomic evolution, with some having only a handful of coding somatic aberrations in a few pathways, whereas others contain hundreds of coding somatic mutations. High-throughput RNA sequencing (RNA-seq) revealed that only approximately 36% of mutations are expressed. Using deep re-sequencing measurements of allelic abundance for 2,414 somatic mutations, we determine for the first time-to our knowledge-in an epithelial tumour subtype, the relative abundance of clonal frequencies among cases representative of the population. We show that TNBCs vary widely in their clonal frequencies at the time of diagnosis, with the basal subtype of TNBC showing more variation than non-basal TNBC. Although p53 (also known as TP53), PIK3CA and PTEN somatic mutations seem to be clonally dominant compared to other genes, in some tumours their clonal frequencies are incompatible with founder status. Mutations in cytoskeletal, cell shape and motility proteins occurred at lower clonal frequencies, suggesting that they occurred later during tumour progression. Taken together, our results show that understanding the biology and therapeutic responses of patients with TNBC will require the determination of individual tumour clonal genotypes. © 2012 Macmillan Publishers Limited. All rights reserved
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