Results 141 to 150 of about 46,855 (284)
Clinical Genetics, EarlyView.We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman +6 more
wiley +1 more source
The Pan African Medical Journal, 2015 Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC.
Kamini Gupta +3 more
doaj +1 more source
Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency
Clinical Genetics, EarlyView.We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou +3 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda +46 more
wiley +1 more source
Severity and outcome of cystic lung disease in women with tuberous sclerosis complex [PDF]
, 2014 Angelo M. Taveira‐DaSilva +5 more
openalex +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to explore the motives and predictors of modified Atkins diet (MAD) discontinuation as a treatment of adults with drug‐resistant epilepsy (DRE). Methods A single‐center observational longitudinal study was made of a cohort of patients treated with MAD during the first 6 years at a multidisciplinary ...
Raquel Samões +6 more
wiley +1 more source
Isolated Asymptomatic Fetal Intracardiac Mass: A Case of Rhabdomyoma
International Medical Case Reports Journal, 2023 Tadesse Gure Eticha,1 Roba Ararso,1 Semir Sultan,1 Kiros Terefe,2 Solomon Wubneh Berhe,2 Temesgen Tsega,3 Yeshiwas Abebe,2 Chernet Baye2 1Department of Obstetrics and Gynecology, Haramaya University, Harar, Ethiopia; 2Department of Obstetrics and ...
Eticha TG +7 more
doaj
Pulmonary tuberous sclerosis [PDF]
, 2009 Pulmonary involvement in tuberous sclerosis is very rare and seems to be associated with a more benign course. We present a 21-year-old woman with bilateral angiomyolipoma.
Razi, E.
core
Epilepsia, EarlyView.Abstract Objective This randomized, double‐blind, phase 1b/2a clinical trial was designed to evaluate the safety, tolerability, and efficacy of oral bexicaserin versus placebo for the treatment of seizures in adolescents and adults with developmental and epileptic encephalopathies (DEEs).
Dennis J. Dlugos +74 more
wiley +1 more source