Angiocentric glioma (AG) is a rare, epilepsy-associated, low-grade neoplasm with a characteristic perivascular growth pattern. Here, we review the histological types, surgical interventions, and postoperative seizure in our three cases of AG with drug-resistant epilepsy. Some patients with AG present focal cortical dysplasia. For these patients, extended lesionectomy including the adjacent cortical dysplasia is necessary to achieve a seizure-free outcome. Surgical planning based on comprehensive evaluation of epilepsy and cortical dysplasia is therefore an important step for all patients.
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http://dx.doi.org/10.1007/s11060-012-0975-4 | DOI Listing |
Sci China Life Sci
December 2024
State Key Laboratory of Medical Proteomics, Beijing Proteome Research Center, National Center for Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing, 102206, China.
Salivary proteins serve multifaceted roles in maintaining oral health and hold significant potential for diagnosing and monitoring diseases due to the non-invasive nature of saliva sampling. However, the clinical utility of current saliva biomarker studies is limited by the lack of reference intervals (RIs) to correctly interpret the testing result. Here, we developed a rapid and robust saliva proteome profiling workflow, obtaining coverage of >1,200 proteins from a 50-µL unstimulated salivary flow with 30 min gradients.
View Article and Find Full Text PDFBMC Pediatr
December 2024
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, 200127, China.
The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty.
View Article and Find Full Text PDFNeurology
January 2025
Faculty of Medicine, University of Geneva, Switzerland.
Early detection of focal cortical dysplasia (FCD) using brain MRI in young children presenting with drug-resistant epilepsy may facilitate prompt surgical treatment, resulting in better control of seizures and decreased associated cognitive difficulties. Characteristics of FCD described in the literature are predominantly based on MRI findings in a fully myelinated brain; therefore, changes occurring during early brain maturation are not well known. In this case report, we describe distinct MRI features of a FCD visualized best before completion of myelination of the cortex and subcortical white matter.
View Article and Find Full Text PDFJ Mol Neurosci
December 2024
Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.
Focal cortical dysplasia (FCD) II is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, with or without balloon cells. Here, we systematically explored the pathophysiological role of the GATOR1 subunit NPRL3 variants including a novel mutation from iPSCs derived from one FCD II patient. Three FCD II children aged 0.
View Article and Find Full Text PDFEpilepsia
December 2024
Department of Neurosurgery, Nagoya University School of Medicine, Nagoya, Japan.
Objective: At our institute, most pediatric patients undergo epilepsy surgery following a thorough presurgical evaluation without intracranial electroencephalography (EEG). We conducted an initial validation of our noninvasive presurgical strategy by assessing the seizure and developmental outcomes of 135 children.
Methods: All 135 pediatric patients were <15 years old, had undergone curative surgery, and were followed for at least 2 years postoperatively.
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