Results 141 to 150 of about 358,265 (351)

Tuberous sclerosis‐associated neuropsychiatric disorders: a paediatric cohort study

Developmental Medicine & Child Neurology, 2018
We aimed to study tuberous sclerosis‐associated neuropsychiatric disorders (TAND) in children and adolescents with tuberous sclerosis complex (TSC).
I. Toldo, Valeria Brasson, M. Miscioscia, M. Pelizza, R. Manara, S. Sartori, Giulia Mantegazza, Marilena Vecchi, M. Nosadini, M. Gatta   +9 more
semanticscholar   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

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  

Analytical Approaches to Address Challenges in the Analysis of Cannabinoids in Vascular Matrices Using Mass Spectrometry

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Phytocannabinoids are bioactive metabolites derived from the Cannabis sativa plant. They have garnered attention due to their recreational uses and therapeutic potential. Although various analytical strategies have been employed for their analysis, mass spectrometry (MS) coupled to chromatographic separation is superior due to its sensitivity ...
Radwa Mahmoud, Robert B. Laprairie, Anas El‐Aneed   +2 more
wiley   +1 more source

Uncovering hidden genetic variations: long-read sequencing reveals new insights into tuberous sclerosis complex

Frontiers in Cell and Developmental Biology
BackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan, Shirang Pan, Yuanzhen Ye, Zhanqi Hu, Li Chen, Dachao Liang, Tao Fu, Lintao Zhan, Zhuo Li, Jianxiang Liao, Xia Zhao   +10 more
doaj   +1 more source

Tuberous Sclerosis: An uncommon cause of hyperprolactinemia

Indian Journal of Endocrinology and Metabolism, 2012
Tuberous Sclerosis is a multi system genetic disorder affecting skin, central nervous system,kidney,heart and lungs. We present a case report of a 26 year old female with tuberous sclerosis who presented with galactorrhea and menstrual irregularities due
Sunil Kumar Kota, Lalit Kumar Meher, SVS Krishna, K D Modi   +3 more
doaj   +1 more source

Four-year update of the EXIST-2 study [PDF]

, 2017
Objectives We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Belousova, Elena, Bissler, John J., Brakemeier, Susanne, Budde, Klemens, Kingswood, J. Chris, Radzikowska, Elzbieta, Zonnenberg, Bernard A.   +6 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Management of Renal Angiomyolipomas in Tuberous Sclerosis: A Case Series

Vascular Specialist International
Renal angiomyolipomas, benign tumors composed of blood vessels, adipose tissue, and smooth muscle, affect approximately 70% to 80% of patients with tuberous sclerosis.
Ganesh G Gowda, Maureen Prativa Tigga, Rashmi Hosahalli Sreenath   +2 more
doaj   +1 more source

Tuberous sclerosis complex and diffuse lipomatosis: Case report of a rare association

Indian Dermatology Online Journal, 2018
Lipomatosis is characterized by diffuse infiltration of adipocytes in a tissue. A young male patient presented for evaluation of unilateral limb swelling.
Ankit Mittal, Keshavamurthy Vinay, Dipankar De, Sanjeev Handa, Anindita Sinha   +4 more
doaj   +1 more source