Results 51 to 60 of about 5,402,382 (253)

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options [PDF]

, 2014
Shelly Wang,1 Aria Fallah2,3 1Department of Neurosurgery, University of Toronto, Toronto, ON, Canada; 2Department of Neurosurgery, Miami Children’s Hospital, Miami, FL, USA; 3Department of Clinical Epidemiology and Biostatistics, McMaster ...
Wang, Shelly, Wang S, Fallah, Aria, Fallah A   +3 more
core   +1 more source

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

Frontiers in Medicine
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo, Juan Manuel Quintero, Oswaldo Aguilar Molina, Marlon Arias-Intriago, Fernando P. Melgar Muñoz, Juan S. Izquierdo-Condoy   +5 more
doaj   +1 more source

Impaired Chaperone‐Mediated Autophagy Accelerates Intervertebral Disc Degeneration by Inducing MIDN Accumulation to Target TSC2 for Proteasomal Degradation

Advanced Science, EarlyView.
This graphical abstract illustrates how chaperone‐mediated autophagy (CMA) regulates intervertebral disc degeneration (IDD). Under normal homeostasis (B), CMA degrades cytoplasmic Midnolin (MIDN) to maintain proteostasis. Under inflammatory stress (A), impaired CMA leads to cytoplasmic MIDN accumulation.
Xianglong Chen, Haiyang Gao, Wang Wu, Pengzhi Shi, Yuhang Chen, Anran Zhang, Zhangrong Cheng, Wenbo Wu, Zimu Yu, Yukun Zhang   +9 more
wiley   +1 more source

Tuberous sclerosis complex: a case report [PDF]

, 2017
Tuberous Sclerosis Complex is an autosomal dominant phakomatosis. This neurocutaneous disorder usually presents with seizures, facial angiofibroma and mental retardation (Vogt’s triad).
Vijayalekshmi, S., Sasidharan, Anjana, Poolakundan, Harris, Jenner, Feroz P., Kharim, Abdul   +4 more
core   +1 more source

A child with tuberous sclerosis having Novel NRAS gene mutation

Journal of Family Medicine and Primary Care
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla   +4 more
doaj   +1 more source

Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review

Oman Medical Journal, 2023
Distal renal tubular acidosis (RTA) is a common cause of renal stones and nephrocalcinosis in children. Distal RTA can be either acquired or congenital because of a genetic defect.
Anwar Al Omairi, Amna Al Futaisi
doaj   +1 more source

Lymphangioleiomyomatosis and Tuberous Sclerosis Complex

Lung, 2008
Lymphangioleiomyomatosis (LAM) is a rare multisystemic disease of women of child-bearing age and affects mainly the lungs, promoting cystic destruction of lung parenchyma or leading to abdominal tumor formation (e.g., angiomyolipomas, lymphangioleiomyomas). LAM can arise sporadically or in association with tuberous sclerosis complex (TSC), an autosomal
Chorianopoulos, Dimitrios, Stratakos, Grigoris   +1 more
openaire   +3 more sources

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Perivascular Epithelioid Cell Tumor (PEComa) of the Uterine Cervix in a Patient with Tuberous Sclerosis Complex: A Literature Review [PDF]

Türk Patoloji Dergisi, 2018
Perivascular epithelioid cell tumors (PEComa) are a rare type of mesenchymal tumor arising from perivascular epithelial cells. These tumor cells are a co-expression of both melanocytic and myogenic antigens, such as HMB 45 and smooth muscle actin, and at
Handan ÇELİK, Mehmet KEFELİ, Mehmet ÇETİNKAYA, Levent YILDIZ   +3 more
doaj   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source