Zobrazeno 1 - 10
of 3 403
pro vyhledávání: '"tsc"'
Publikováno v:
Exploration of Neuroscience, Vol 3, Iss 5, Pp 527-538 (2024)
Aim: Patients with tuberous sclerosis complex (TSC) which is caused by hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) often show giant cells in the brain. These giant cells are thought to be involved in epileptogenesis, but the
Externí odkaz:
https://doaj.org/article/8701c289fadd49a5baf59b4723ac1ef7
Publikováno v:
Discover Oncology, Vol 15, Iss 1, Pp 1-8 (2024)
Abstract Background Everolimus is an effective treatment for renal angiomyolipoma associated with TSC (TSC-RAML). However, its impact on hematologic parameters in TSC-RAML patients remains unclear. Methods Hematologic data were collected from TSC-RAM
Externí odkaz:
https://doaj.org/article/3492ca2f79e84786902d5fe846c42402
Autor:
M. Vasseghi, C. Behan, A. Connolly, D. Cunningham, E. Dempsey, C. Flynn, M. Galvin, G. Griffin, P. Moloney, M. Murphy, Y. Owen, S. O’Malley, G. O’Rourke, O. O’Sullivan, C. P. Doherty
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-7 (2024)
Abstract Background Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from multiple healthcare specialiti
Externí odkaz:
https://doaj.org/article/ca8de27f2e694121a80d87cbfa4122ea
Publikováno v:
IET Smart Grid, Vol 7, Iss 4, Pp 386-399 (2024)
Abstract Under the target of ‘emission peak and carbon neutrality’, electricity distribution networks will massively access low‐carbon technologies, which will result in problems such as insufficient hosting capacity, unbalanced electricity loa
Externí odkaz:
https://doaj.org/article/402d8c97eb7b4250ac39f4c0ceb183be
Autor:
Kandil, Abd El-Hakeim T. a, Atia, Bahig M. b, El-Dars, Farida M.S.E. a, Hussein, Mohamed Y.M. a, Cheira, Mohamed F. b, ⁎
Publikováno v:
In Journal of Water Process Engineering November 2024 67
Autor:
Ryan J. Lawson, Nicholas J. Lipovsek, Samuel P. Brown, Achintya K. Jena, Joanna J. Osko, Joseph L. Ransdell
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 18 (2024)
There is a striking sex bias in the prevalence and severity of autism spectrum disorder (ASD) with 80% of diagnoses occurring in males. Because the molecular etiology of ASD is likely combinatorial, including interactions across multiple genetic and
Externí odkaz:
https://doaj.org/article/62fb5a9685d341aa926f743cfc148cf2
Autor:
Utami Purbasari, MD, Nurhayati Adnan Prihartono, MPH, MSc, ScD, N Helda, MD, MPH, PhD, Fatira Ratri Audita, MD, Bobby S Dharmawan, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 19, Iss 6, Pp 2566-2573 (2024)
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that primarily affects the central nervous system and various body organs. This case series describes the case history of 2 siblings from the same parents who were diagnosed with TSC. Case 1
Externí odkaz:
https://doaj.org/article/6fc68325e5e846a59a952454f07c57bb
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
A 33-year-old patient presented with a chief complaint of patent ductus arteriosus (PDA) persisting for over 30 years. Physical examination revealed bilateral facial angiofibromas, multiple nail fibromas, intraoral fibromas, and a ’shagreen patch
Externí odkaz:
https://doaj.org/article/061ce689d4094f21be5b5e22ee378eb3
Publikováno v:
Heliyon, Vol 10, Iss 14, Pp e34191- (2024)
Renal angiomyolipoma is a benign mesenchymal tumor that can be divided into classical and other subtypes. Angiomyolipoma with epithelial cysts (AMLEC) is an extremely rare non classical subtype. AMLEC without fat component is even rarer. We report a
Externí odkaz:
https://doaj.org/article/6d55fa2152d3449b80985ec647ec5ad4
Autor:
Hasan Haydar, Mouhammed Sleiay, Mohammed Alqreea, Ahmad Almohamed, Doaa Alrajab, Malak alsaleh, Mohamad Yasin Lutfi
Publikováno v:
Urology Case Reports, Vol 54, Iss , Pp 102705- (2024)
Tuberous sclerosis complex (TSC) is a genetically inherited disorder distinguished by the development of numerous benign neoplasms across multiple organ systems.Renal angiomyolipoma represents 0.3% of all primary renal tumors and are classified as be
Externí odkaz:
https://doaj.org/article/0e6793009b8a4f1281ca5cc01e9394d4