To identify the relationship between thalamic volume and electrical status epilepticus in sleep (ESES). We analyzed subcortical gray matter volumes in patients with an ESES pattern on their electroencephalographs. All magnetic resonance imaging scans were considered within normal limits. The patients were not receiving antiepileptic drug at the time of the MRI study. High resolution T1-weighted 3-dimensional MPRAGE scans were assessed for segmentation and quantitative volumetric analysis of the brain by using the "volBrain" method. After correcting for total brain volume, volumes were compared with a group of healthy controls (HCs) and patients with benign childhood epilepsy with centrotemporal spikes (BECTS). Fifteen patients with ESES, 15 patients with BECTS, and 30 HCs were included. The median age of the patients with ESES was 8.5 (range, 5.8-13) years, 8 (range, 5-14) years for the HCs, and 7.8 (range, 4-13.5) years for the patients with BECTS. The total relative thalamic volume was significantly lower in patients with ESES than in the healthy controls (0.87 ± 0.07 vs. 0.93 ± 0.03, p = 0.002), and in patients with ESES than in those with BECTS (0.87 ± 0.07 vs. 0.93 ± 0.03, p = 0.006). There was no significant difference the HCs and patients with BECTS (0.93 ± 0.03 vs. 0.93 ± 0.03, p = 0.999). Both right and left relative thalamic volumes were lower in patients with ESES than in HCs (right thalamus: 0.43 ± 0.04 vs. 0.46 ± 0.02, p = 0.003, left thalamus: 0.44 ± 0.03 vs. 0.47 ± 0.02, p = 0.002), in patients with ESES than in patients with BECTS (right thalamus: 0.43 ± 0.04 vs. 0.46 ± 0.01, p = 0.01, left thalamus: 0.43 ± 0.04 vs. 0.47 ± 0.01, p = 0.007); however, there was no significant difference between the HCs and patients with BECTS (right thalamus: 0.46 ± 0.02 vs. 0.46 ± 0.01, p = 0.999, left thalamus: 0.47 ± 0.02 vs. 0.47 ± 0.01, p = 0.999). This study highlights the association between thalamic involvement and ESES, even when not severe enough to cause a detectable lesion on visual interpretation of MRI.
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http://dx.doi.org/10.1007/s13760-019-01202-7 | DOI Listing |
Epilepsy Behav
December 2024
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
Electrical status epilepticus in sleep (ESES) is an electrographic pattern associated with cognitive impairment. Our study aimed to prospectively evaluate the psychiatric findings and language skills in patients diagnosed with ESES and to determine the immune modulatory treatment-responsive subgroups. We assessed the patients for psychiatric features and language skills at the baseline and 12 months after.
View Article and Find Full Text PDFJ Am Soc Echocardiogr
November 2024
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota. Electronic address:
Background: During exercise stress echocardiography (ESE), there are patients with normal left ventricular ejection fraction (LVEF) who paradoxically develop reduced LVEF during exercise despite absence of coronary artery disease (CAD) and a significant hypertensive response. This study sought to describe the clinical features and outcomes of this population.
Methods: Among ESEs performed between 2003 and 2022, patients without CAD by angiogram within 90 days of ESE and resting LVEF ≥50% with a ≥5% LVEF decrease during ESE were included.
BMC Genom Data
November 2024
Department of Microscopic Morphology, Genetics Discipline, Victor Babeș University of Medicine and Pharmacy, 2 Eftimie Murgu Square Street, Timișoara, 300041, Romania.
Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impact in germline variant detection in the causative genes; however, a large proportion of patients with clinical criteria still receive uncertain or negative results. PMS2 is the least frequent reported gene, associated with up to 15% of LS cases with late-onset disease and low penetrance phenotype; however, the proportion of PMS2-LS cases is considered to be highly underestimated.
View Article and Find Full Text PDFPediatrics
January 2025
ECU Health, Greenville, North Carolina.
Front Neurol
October 2024
Department of Pediatrics, Peking University People's Hospital, Beijing, China.
Background: -related neuro-renal syndrome (NRS), caused by pathogenic variants of the gene, is characterized by epilepsy, developmental delay (DD) and renal disorders. The severity of the neurological effects as well as the presence of renal disorders is variable among patients. Here, we report three additional patients with clinical features compatible with NRS and summarize the association between the variants' loci and phenotype of -related NRS.
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