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Page 1
Prediction of tuberous sclerosis-associated neurocognitive disorders and seizures via machine learning of structural magnetic resonance imaging.
Shrot S, Lawson P, Shlomovitz O, Hoffmann C, Shrot A, Ben-Zeev B, Tzadok M. Shrot S, et al. Neuroradiology. 2022 Mar;64(3):611-620. doi: 10.1007/s00234-021-02789-6. Epub 2021 Sep 16. Neuroradiology. 2022. PMID: 34532765
METHODS: A cohort of TSC patients were enrolled in this retrospective study. Clinical data included genetic, demographic, and seizure characteristics. Imaging parameters included the number, characteristics, and location of cortical tubers and the presence of subependym …
METHODS: A cohort of TSC patients were enrolled in this retrospective study. Clinical data included genetic, demographic, and seizure …
Fetal cardiac rhabdomyomas treated with maternal sirolimus.
Pluym ID, Sklansky M, Wu JY, Afshar Y, Holliman K, Devore GR, Walden A, Platt LD, Krakow D. Pluym ID, et al. Prenat Diagn. 2020 Feb;40(3):358-364. doi: 10.1002/pd.5613. Epub 2020 Jan 2. Prenat Diagn. 2020. PMID: 31742705
Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. ...Postnatally, the infant has had stable rhabdomyomas and cardiac fun …
Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monito …
Brachial and subclavian arteries aneurysms due to tuberous sclerosis complex mechanisms - case report and literature review.
Craiu DC, Bastian AE, Zurac SA, Băilă SL, Croitoru M, Craiu M, Diaconu R, Vinţan MA, Bârcă DG. Craiu DC, et al. Rom J Morphol Embryol. 2022 Jan-Mar;63(1):181-189. doi: 10.47162/RJME.63.1.19. Rom J Morphol Embryol. 2022. PMID: 36074682 Free PMC article. Review.
A TSC patient, aged 31 years, who developed brachial and subclavian arteries aneurysms is presented. The question of a random association of the aneurysms with TSC versus aneurysms within pathogenic released mammalian target of rapamycin (mTOR) pathway effect was raised. . …
A TSC patient, aged 31 years, who developed brachial and subclavian arteries aneurysms is presented. The question of a random associa …
Pathological Findings of a Subependymal Giant Cell Astrocytoma Following Treatment With Rapamycin.
Cheng S, Hawkins C, Taylor MD, Bartels U. Cheng S, et al. Pediatr Neurol. 2015 Sep;53(3):238-242.e1. doi: 10.1016/j.pediatrneurol.2015.05.020. Epub 2015 Jun 14. Pediatr Neurol. 2015. PMID: 26173783
Mutations in these genes result in enhanced mammalian target of rapamycin signaling and may cause neurological manifestations including brain tubers, subependymal nodules, and subependymal giant cell astrocytomas. These astrocytomas are tumors that arise near the fo …
Mutations in these genes result in enhanced mammalian target of rapamycin signaling and may cause neurological manifestations including brai …
Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?
Gaillard AL, Crombé A, Jecko V, Bessou P, Havez M, Pédespan JM, Van Gils J, Chateil JF. Gaillard AL, et al. Pediatr Radiol. 2020 Sep;50(10):1397-1408. doi: 10.1007/s00247-020-04707-z. Epub 2020 Jul 15. Pediatr Radiol. 2020. PMID: 32671416
OBJECTIVE: To compare the diagnostic performances of non-CE- and CE-MRI to differentiate SEGAs from subependymal nodules in TSC patients during follow-up. MATERIALS AND METHODS: Thirty-five TSC patients (median age: 2.4 years) were enrolled in this retrospective sin …
OBJECTIVE: To compare the diagnostic performances of non-CE- and CE-MRI to differentiate SEGAs from subependymal nodules in TS …
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Słowińska M, Jóźwiak S, Peron A, Borkowska J, Chmielewski D, Sadowski K, Jurkiewicz E, Vignoli A, La Briola F, Canevini MP, Kotulska-Jóźwiak K. Słowińska M, et al. Orphanet J Rare Dis. 2018 Jan 29;13(1):25. doi: 10.1186/s13023-018-0764-z. Orphanet J Rare Dis. 2018. PMID: 29378663 Free PMC article.
Apart from cardiac tumors, the most frequently observed early TSC signs were subependymal nodules (71/100, 71%), cortical dysplasia (66/100, 66%), and hypomelanotic macules (35/100, 35%). The most useful clinical studies for early TSC diagnosis were brain mag …
Apart from cardiac tumors, the most frequently observed early TSC signs were subependymal nodules (71/100, 71%), cortical dysp …
Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.
Sun X, Zhong X, Li T. Sun X, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e926. doi: 10.1002/mgg3.926. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31397114 Free PMC article. Clinical Trial.
METHODS: Targeted next-generation sequencing was performed to identify pathogenic mutations in 205 cases with DEEs of unknown etiology. Detailed clinical and genetic data were collected from SZT2-associated patients. ...All the individuals were diagnosed as DEEs, drug refr …
METHODS: Targeted next-generation sequencing was performed to identify pathogenic mutations in 205 cases with DEEs of unknown etiology. Deta …
Evidence for population variation in TSC1 and TSC2 gene expression.
Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V. Jentarra GM, et al. BMC Med Genet. 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29. BMC Med Genet. 2011. PMID: 21345208 Free PMC article.
TSC is associated with specific brain lesions, including cortical tubers, subependymal nodules and subependymal giant cell astrocytomas. In addition, this disease frequently produces characteristic tumors, termed hamartomas, in the kidneys, heart, skin, retina, and …
TSC is associated with specific brain lesions, including cortical tubers, subependymal nodules and subependymal giant cell ast …
Magnetization transfer ratio measurements of the brain in children with tuberous sclerosis complex.
Zikou A, Ioannidou MC, Tzoufi M, Astrakas L, Argyropoulou MI. Zikou A, et al. Pediatr Radiol. 2005 Nov;35(11):1071-4. doi: 10.1007/s00247-005-1539-y. Epub 2005 Jul 29. Pediatr Radiol. 2005. PMID: 16052334 Clinical Trial.
RESULTS: The MTR values of cortical tubers (44.1+/-4.1), of subependymal nodules (51.6+/-4.8) and of white matter lesions (52.4+/-1.8) were significantly lower than those of cortex (58.7+/-3.53), of basal ganglia (caudate nucleus 58.2+/-2.8, putamen 59.6+/-2.5, thal …
RESULTS: The MTR values of cortical tubers (44.1+/-4.1), of subependymal nodules (51.6+/-4.8) and of white matter lesions (52. …
15 results