In a small number of cases of tuberose sclerosis, tumors develop in the cerebral subependymal region. Their exact nature has been the subject of debate. The cytology, histology and electron microscopy of a tumor which developed in a 16 year old male suffering from tuberose sclerosis are presented and the findings are discussed.
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http://dx.doi.org/10.1097/00005072-197907000-00007 | DOI Listing |
Epilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
Hum Mol Genet
January 2025
Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, 1161 21st Ave S, Nashville, Tennessee, 37232, United States of America.
Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1 or TSC2 genes and consequent dysregulation of signaling via mechanistic Target of Rapamycin Complex 1 (mTORC1).
View Article and Find Full Text PDFNMR Biomed
March 2025
Paul C. Lauterbur Research Center for Biomedical Imaging, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.
In clinical practice, particularly in neurology assessments, imaging multiparametric MR images with a single-sequence scan is often limited by either insufficient imaging contrast or the constraints of accelerated imaging techniques. A novel single scan 3D imaging method, incorporating Wave-CAIPI and MULTIPLEX technologies and named WAMP, has been developed for rapid and comprehensive parametric imaging in clinical diagnostic applications. Featuring a hybrid design that includes wave encoding, the CAIPIRINHA sampling pattern, dual time of repetition (TR), dual flip angle (FA), multiecho, and optional flow modulation, the WAMP method captures information on RF B1t fields, proton density (PD), T1, susceptibility, and blood flow.
View Article and Find Full Text PDFBr J Dermatol
January 2025
Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
Pak J Med Sci
January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
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