Two children (4 1/2 and 9 months of age) suffering from tuberous sclerosis were examined with MRI, using a 2.35-Tesla magnet. Both patients showed the typical brain lesions of tuberous sclerosis, namely, subependymal nodules projecting into the lateral ventricles and parenchymal hamartomas. However, in one child the examination revealed subcortical foci of low signal intensity on T2-weighted images and of high signal intensity on T1-weighted images, which could represent fat-containing hamartomas.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00588263 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.
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 PDFWave-CAIPI Multiparameter MR Imaging in Neurology.
NMR 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 PDFGenotype-phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex.
Br J Dermatol
January 2025
Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, Osaka, Japan.
A recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
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.
Pifithrin-μ sensitizes mTOR-activated liver cancer to sorafenib treatment.
Cell Death Dis
January 2025
Department of Organ Transplantation and Hepatobiliary Surgery, Key Laboratory of Organ Transplantation of Liaoning Province, The First Hospital of China Medical University, Shenyang, China.
TSC2, a suppressor of mTOR, is inactivated in up to 20% of HBV-associated liver cancer. This subtype of liver cancer is associated with aggressive behavior and early recurrence after hepatectomy. Being the first targeted regimen for advanced liver cancer, sorafenib has limited efficacy in HBV-positive patients.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!