Results 71 to 80 of about 42,064 (302)

Successful Treatment of Growing Renal Angiomyolipomas With Low-Dose Everolimus in a School-Aged Child With Tuberous Sclerosis Complex. [PDF]

Nephrology (Carlton)
ABSTRACT Renal angiomyolipomas (AMLs) are a common renal manifestation in tuberous sclerosis complex (TSC), occurring in 50%–85% of cases. Even in asymptomatic individuals, treatment is often initiated based on AML size, with mTOR inhibitors being the primary medical therapy.
Senoo S, Kanda S, Takizawa K, Terashima H, Kajiho Y, Harita Y.   +5 more
europepmc   +2 more sources

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report

Journal of Medical Case Reports, 2012
Introduction The majority of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex is diagnosed with the classical clinical triad of seizures, mental retardation, and skin lesions.
Ishii Makoto, Asano Koichiro, Kamiishi Nobufumi, Hayashi Yuichiro, Arai Daisuke, Haraguchi Mizuha, Sugiura Hiroaki, Naoki Katsuhiko, Tasaka Sadatomo, Soejima Kenzo, Sayama Koichi, Betsuyaku Tomoko   +11 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Imaging features of rare mesenychmal liver tumours: beyond haemangiomas. [PDF]

, 2017
Tumours arising from mesenchymal tissue components such as vascular, fibrous and adipose tissue can manifest in the liver. Although histopathology is often necessary for definitive diagnosis, many of these lesions exhibit characteristic imaging features.
Ahmed, Kareem, Deshmukh, Sandeep P., Elsayes, Khaled M., Kang, Hyunseon C., Korivi, Brinda Rao, Menias, Christine O., Pickhardt, Perry J., Thampy, Rajesh   +7 more
core   +3 more sources

Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and CDKL5 deficiency disorder?

Epilepsia Open, EarlyView.
Abstract Objective This study aimed to evaluate the efficacy and safety of adjunctive, highly purified Cannabidiol (Epidiolex®) in individuals with drug‐resistant epilepsy (DRE) due to genetically determined typical Rett Syndrome (RTT) and CDKL5 Deficiency Disorder (CDD). Methods We recruited subjects with genetically confirmed typical RTT and CDD with
Aglaia Vignoli, Giulia Prato, Enrico Alfei, Irene Bagnasco, Alberto Danieli, Massimiliano Celario, Jacopo Favaro, Sara Matricardi, Francesca Felicia Operto, Alessandro Orsini, Davide Paolo Bernasconi, Nicola Pietrafusa, Emilia Ricci, Luca Manfredini, Giulia Balletto, Paolo Bonanni, Maria Paola Canevini, Valentina De Giorgis, Lino Nobili, Stefano Sartori, Miriam Nella Savini, Ilaria Viganò, Nicola Specchio   +22 more
wiley   +1 more source

VATS therapy of chylothorax caused by leiomyomatosis complicated with tuberous sclerosis complex

Journal of Minimal Access Surgery, 2013
Lymphangioleiomyomatosis with tuberous sclerosis complex is a rare disease. One of the most frequent complications of lymphangioleiomyomatosis is pleural effusion (chylothorax) wich can be treated with the use of VATS.
Adrienn Csiszkó, György Herr, Sándor Sz. Kiss, Judit Hallay, Zoltán Gyöngyösi, Zsolt Szentkereszty   +5 more
doaj   +1 more source

Genetically engineered human cortical spheroid models of tuberous sclerosis. [PDF]

, 2018
Tuberous sclerosis complex (TSC) is a multisystem developmental disorder caused by mutations in the TSC1 or TSC2 genes, whose protein products are negative regulators of mechanistic target of rapamycin complex 1 signaling. Hallmark pathologies of TSC are
Bateup, Helen, Blair, John, Hockemeyer, Dirk   +2 more
core   +1 more source

Yes-associated protein (YAP) in pancreatic cancer: at the epicenter of a targetable signaling network associated with patient survival. [PDF]

, 2018
Pancreatic ductal adenocarcinoma (PDAC) is generally a fatal disease with no efficacious treatment modalities. Elucidation of signaling mechanisms that will lead to the identification of novel targets for therapy and chemoprevention is urgently needed ...
Eibl, Guido, Rozengurt, Enrique, Sinnett-Smith, James   +2 more
core   +2 more sources

Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery

Epilepsia Open, EarlyView.
Abstract Objective Advances in the analysis and collation of radiographic datasets have enhanced presurgical planning for various neurosurgical procedures, including clipping of cerebral aneurysms, surgical resection of tumors, and arteriovenous malformation management.
Lisa B. E. Shields, Hunain Abri, Cemal Karakas, Shannon D. Davis, Ian S. Mutchnick   +4 more
wiley   +1 more source