Results 51 to 60 of about 50,774 (290)

Tuberous sclerosis complex [PDF]

Anais Brasileiros de Dermatologia, 2012
Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner.
Rodrigues, Daniela Araujo, Gomes, Ciro Martins, Costa, Izelda Maria Carvalho   +2 more
openaire   +4 more sources

Neuroinflammatory targets and treatments for epilepsy validated in experimental models [PDF]

, 2017
A large body of evidence that has accumulated over the past decade strongly supports the role of inflammation in the pathophysiology of human epilepsy.
Aronica, Eleonora, Bauer, Sebastian, Bozzi, Yuri, Caleo, Matteo, Dingledine, Raymond, Gorter, Jan A., Henshall, David C., Kaminski, Rafal M., Kaufer, Daniela, Koh, Sookyong, Lã¶scher, Wolfgang, Louboutin, Jean-pierre, Mishto, Michele, Norwood, Braxton A., Palma, Eleonora, Poulter, Michael O., Terrone, Gaetano, Vezzani, Annamaria   +17 more
core   +5 more sources

Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report

Case Reports in Women's Health, 2018
Cardiac tumors are rarely diagnosed in utero. Rhabdomyomas are the most common fetal cardiac tumors. They are usually diagnosed during the first year of life after obstruction of a valve orifice or a cardiac chamber; but they can be detected by ...
Emre Ekmekci, Berfin Okmen Ozkan, Muhammet Serhat Yildiz, Betul Kocakaya   +3 more
doaj   +1 more source

Sinonasal angioleiomyoma with adipocyte differentiation: clinicopathologic study of 2 cases and review of the literature [PDF]

, 2019
Angioleiomyoma (ALM) is a benign tumor of the skin and soft tissues composed of well differentiated smooth muscle cells arranged around and among many vascular channels.
Corsi, A., D'Aguanno, V., De Vincentiis, L., de Vincentiis, M., Greco, A., Minni, A., Ralli, M., Remotti, D.   +7 more
core   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

An Open‐Source Pipeline for Calcium Imaging and All‐Optical Physiology in Human Stem Cell‐Derived Neurons

Advanced Science, EarlyView.
This work introduces an open‐source all‐optical platform for functional phenotyping of human stem cell‐derived neurons. The system integrates optogenetics, calcium imaging, automated acquisition, and analysis to resolve single‐cell and network activity, enabling longitudinal measurements, disease modeling, and pharmacological screening in preclinical ...
Wardiya Afshar‐Saber, Federico M. Gasparoli, Ziqin Yang, Nicole A. Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D. Buttermore, Kellen D. Winden, Cidi Chen, Mustafa Sahin   +12 more
wiley   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review

Frontiers in Oncology, 2022
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang, Xinping Zhong, Xuyong Lin, Xuedan Li, Haoyu Tian, Bing Chang, Ying Wang, Jing Tong, Ningning Wang, Dan Li, Xiuli Jin, Die Huang, Yanmeng Wang, Huipeng Cui, Lin Guan, Yiling Li   +15 more
doaj   +1 more source

Epitheloid Variant of Angiomyolipoma in a Patient with Tuberous Sclerosis. [PDF]

, 2013
Epitheloid angiomyolipoma of kidney is a type of Perivascular endothelial cell derived tumor with an aggressive behaviour with specific pathological, immunohistochemistrical and genetic characteristics.
Amirtham, U, Challa, VR, Goud, BYG, Rangappa, P, Swamyvelu, K   +4 more
core   +1 more source

Parental Understanding of Tuberous Sclerosis Complex [PDF]

, 2014
Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of
Donald, Kirsten A., Samia, Pauline, Schlegel, Birgit, Wilmshurst, Jo M.   +3 more
core   +2 more sources