Results 1 to 10 of about 357,346 (356)

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Orphanet Journal of Rare Diseases, 2022
Highlights Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for
Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai   +8 more
doaj   +2 more sources

A child with tuberous sclerosis having Novel NRAS gene mutation [PDF]

Journal of Family Medicine and Primary Care
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs,
P. N. Liveinai, Neeraj Kumar, Jyoti Kadian, Dinkar Yadav, Kapil Bhalla   +4 more
doaj   +2 more sources

Tuberous Sclerosis

Vestnik Dermatologii i Venerologii, 2018
Aetiology, pathogenesis, clinical and patomorphological criteria for diagnosis of tuberous sclerosis diagnosis are described in this paper. Clinical case of long undiagnosed tuberous sclerosis is presented.
K. N. Monahov, O. L. Romanova, P. O. Amelina, K. Yu. Molodyh, Yu. S. Astahov, P. A. Nechiporenko, L. K. Atlasova   +6 more
doaj   +3 more sources

Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis? [PDF]

Clinical Case Reports
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal, Shraddha Uprety, Mukesh Kumar Ranjan, Pratichya Thapa, Bigyan Paudel, Prakriti Lamichhane   +5 more
doaj   +2 more sources

Tuberous Sclerosis Complex

The Keio Journal of Medicine
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
Rout P, Thomas A.
europepmc   +6 more sources

Tuberous sclerosis

Dermatology Online Journal, 2008
A 46-year-old woman presented with multiple, skin-colored, hyperpigmented, dome-shaped facial papules. Histopathologic examination was consistent with angiofibromas. Clinical history and examination were consistent with tuberous sclerosis. The clinical manifestations, pathogenesis, evaluation, and treatment of tuberous sclerosis are discussed.
Frank Gaillard
openalex   +5 more sources

Tuberous Sclerosis [PDF]

Journal of the Royal Society of Medicine, 1991
Tuberous sclerosis (epiloia, Bourneville-Pringle syndrome) is an inherited disease with an autosomal pattern. Both sexes are affected equally with varied expression in successive generations. Two cases of this unusual disorder in siblings are reported. They illustrate heredofamilial nature, dissimilar expression, mutations, and oral manifestations.
H H, Tillman, F, De Caro
  +8 more sources

Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments

Frontiers in Medicine, 2022
Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin of ...
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf, Markus Knuf, Sam Amin   +5 more
doaj   +1 more source

Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility

BMC Neurology, 2021
Background Subependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently available for treating SEGA: surgical resection or pharmacotherapy using mammalian target of rapamycin ...
Kyoichi Tomoto, Ayataka Fujimoto, Chikanori Inenaga, Tohru Okanishi, Shin Imai, Masaaki Ogai, Akiko Fukunaga, Hidenori Nakamura, Keishiro Sato, Akira Obana, Takayuki Masui, Yoshifumi Arai, Hideo Enoki   +12 more
doaj   +1 more source

Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey

Orphanet Journal of Rare Diseases, 2023
Background Tuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders, resulting in a high burden of illness for individuals and a substantial impact on their caregivers.
Hanna Skrobanski, Kishan Vyas, Sally Bowditch, Lena Hubig, Edward Dziadulewicz, Louise Fish, Pooja Takhar, Siu Hing Lo   +7 more
doaj   +1 more source