Results 51 to 60 of about 46,855 (284)

Modeling Autistic Features in Animals [PDF]

, 2011
A variety of features of autism can be simulated in rodents, including the core behavioral hallmarks of stereotyped and repetitive behaviors, and deficits in social interaction and communication.
Patterson, Paul H.
core   +1 more source

Cellular antiseizure mechanisms of everolimus in pediatric tuberous sclerosis complex, cortical dysplasia, and non-mTOR-mediated etiologies. [PDF]

, 2018
The present study was designed to examine the potential cellular antiseizure mechanisms of everolimus, a mechanistic target of rapamycin (mTOR) pathway blocker, in pediatric epilepsy cases. Cortical tissue samples obtained from pediatric patients (n 
Barry, Joshua, Cepeda, Carlos, Fallah, Aria, Levine, Michael S, Levinson, Simon, Mathern, Gary W, Vinters, Harry V, Wu, Joyce Y, Yazon, Vannah-Wila   +8 more
core   +2 more sources

Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report

Journal of Medical Case Reports, 2021
Background Rhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90% of fetuses and neonates with multiple cardiac rhabdomyomas have signs of tuberous sclerosis complex ...
Koji Yamamoto, Yohei Maki, Yuichiro Sato, Hiroyuki Tanaka, Tsuyoshi Fukushima, Junko Ushijima, Seishi Furukawa, Hiroshi Sameshima, Hiroaki Kataoka   +8 more
doaj   +1 more source

Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

Digital Diagnostics
Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging.
Tatiana V. Ivlyukova, Daria D. Bugrova, Alexander A. Melnikov, Larisa D. Belotserkovtseva, Natalia V. Klimova   +4 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

Sculpting the Future of Bone: The Evolution of Absorbable Materials in Orthopedics

Advanced Materials, EarlyView.
This review summarizes the current status of polymeric, ceramic, and metallic absorbable materials in orthopedic applications, and highlights several innovative strategies designed to enhance mechanical performance, control degradation, and promote bioactivity. We also discuss the progress and translational potential of absorbable materials in treating
Zhao Wang, Zehui Lv, Xuejie Cai, Yingjie Wang, Bo Peng, Haojing Xu, Hualuo Pang, Xingdong Yang, Jiawei Xu, Yixin Bian, Bin Feng, Peng Wen, Yufeng Zheng, Xisheng Weng   +13 more
wiley   +1 more source

Cardiovascular considerations in tuberous sclerosis

Pediatria i Medycyna Rodzinna, 2017
Tuberous sclerosis complex is a genetic condition with an autosomal dominant pattern of inheritance, with an incidence of approximately 1:10,000, and 1:6,800 in the paediatric population, caused by a mutation of either of two genes: TSC1 on chromosome ...
Joanna Kohut, Bogusław Mazurek, Jacek Pająk, Lesław Szydłowski, Aleksandra Morka   +4 more
doaj   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with TSC

BMC Nephrology
Background Women are counseled preconceptionally about the potential risks of rAML progression and chance of complications during and due to pregnancy. However, a systematic search investigating the evidence on which this advice is based does not exist ...
Marlou W. Kluiving, Evelien F. H. I. Peeters, Titia A. Lely, Niek van Oorschot, Wendela L. de Ranitz-Greven   +4 more
doaj   +1 more source

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
doaj   +1 more source