To assess cognitive outcome in patients with tuberous sclerosis complex (TSC) and identify predictive risk factors, we reviewed records of 107 patients who underwent comprehensive neuropsychiatric evaluation. Fifty-seven percent of patients with TSC had normal-range IQ/developmental quotient (DQ). Cognitive outcome was strongly associated with refractory seizures and TSC2 mutation. In TSC, IQ/DQ is bimodally distributed, and more than half of individuals are in the normal range.
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http://dx.doi.org/10.1212/01.wnl.0000250330.44291.54 | DOI Listing |
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 PDFPak 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.
J Ren Nutr
January 2025
Division of Nephrology Universidade Federal de São Paulo, São Paulo, Brazil; Nutrition Program, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address:
Objective: To evaluate the associations between the quality of the diet and its components and microbial diversity and composition in peritoneal dialysis (PD) patients.
Design And Methods: This crossectional study included PD patients for at least 3 months, aged 18-75 years and clinically stable. The Diet Quality Index (DQI), validated for the Brazilian population, is based on the energy density of 11 components ("sugar and sweets"; "beef, pork and processed meat"; "refined grains and breads"; "animal fat"; "poultry, fish and eggs"; "whole cereals, tubers and roots"; "fruits"; "non-starch vegetables"; "legumes and nuts"; "milk and dairy products"; "vegetable oil").
Med Oral Patol Oral Cir Bucal
January 2025
Bezmialem Vakif University Faculty of Dentistry Department of Oral and Maxillofacial Surgery Fatih, Istanbul, Turkey
Background: The study aimed to investigate the effect of customized lateral nasal wall osteotomy (LNO) on the lateral nasal wall (LNW) and pterygomaxillary junction (PMJ) separation during Le Fort I. We hypothesized that customized LNO on the LNW affect the PMJ separation type.
Material And Methods: This prospective, controlled, randomized study included forty-three patients were randomly assigned to either the conventional or customized (study) osteotomy groups.
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