Results 41 to 50 of about 50,774 (290)
A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. [PDF]
, 2020 BackgroundResearch in rare genetic syndromes associated with ASD is often hampered by the wide geographic distribution of families and the presence of medical comorbidities, such as epilepsy, that may preclude travel to clinical sites.
Hyde, Carly +6 more
core +1 more source
MTOR cross-talk in cancer and potential for combination therapy [PDF]
, 2018 The mammalian Target of Rapamycin (mTOR) pathway plays an essential role in sensing and integrating a variety of exogenous cues to regulate cellular growth and metabolism, in both physiological and pathological conditions.
Bazzichetto, C. +7 more
core +3 more sources
A rare case of tuberous sclerosis complex-associated renal cell carcinoma
South African Journal of Radiology, 2022 Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga +5 more
doaj +1 more source
Tuberous Sclerosis Complex [PDF]
New England Journal of Medicine, 2017 A 71-year-old man presented for the evaluation of chronic kidney disease and was noted to have erythematous papules on his face and lesions over his toenails suggestive of tuberous sclerosis.
Michele, Marchini, Elisabetta, Giglio
openaire +4 more sources
Journal of Patient-Reported Outcomes, 2018 Background Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors in multiple organs, including non-cancerous kidney lesions known as renal angiomyolipomas.
Anne M. Rentz +8 more
doaj +1 more source
Tuberous Sclerosis Complex in a 17-month-old: A Case Report
Journal of Nepal Medical Association, 2023 Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C. +5 more
doaj +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 +7 more
core +3 more sources
The diagnosis to be kept in mind in resistant epilepsy; tuberous sclerosis
Northwestern Medical Journal, 2022 Drug-Resistant Epilepsy is the continuation of seizures despite administering two tolerable antiepileptic drugs at the appropriate dose and time, which are selected according to the type of seizure.
Fatih Kurt, Recep Eröz, Mustafa Doğan
doaj +1 more source
Concomitant diagnosis of bipolar disorder and tuberous sclerosis - a case report
European Psychiatry, 2022 Introduction Tuberous sclerosis is a multisystem genetic disorder. It is associated with significant psychiatric comorbidity mainly autistic disorders, hyperkinetic disorders, depression and anxiety.
M. Santos +3 more
doaj +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 +2 more
core +2 more sources