Tuberous Sclerosis Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Early development of the Tsc1 Purkinje cell specific mouse knockouts
Acta Neurobiol Exp (Wars). 2023 Dec 12;83(4):404-413. doi: 10.55782/ane-2023-2472.ABSTRACTTsc1 is a gene which expression results in hamartin, a protein involved in regulation of the mTOR1 pathway. Inactivation of Tsc1 gives rise to hyperactivation of the mTOR1 machinery, increased proliferation and growth of cells with subsequent cell degeneration and cell death. In humans, mutations of Tsc1 result in an inherited disorder ‑ tuberous sclerosis complex (TSC) with the concomitant multiorgan non‑malignant tumors (tubers), epileptic seizures and autistic‑like manifestations. General mouse knock‑outs, homozygous for th...
Source: Acta Neurobiologiae Experimentalis - January 15, 2024 Category: Neurology Authors: Anna S ługocka Marta Anna Przyby ła Jaros ław Jerzy Barski Source Type: research

Neuropsychiatric Manifestations of Tuberous Sclerosis and Management Options: A Narrative Review
Conclusion and Relevance: Lack of specific guidelines for management add to the significant burden of care. An individualized, multifaceted perspective, with particular focus on cognitive and psychosocial comorbidities, is key for managing tuberous sclerosis.Prim Care Companion CNS Disord 2024;26(1):22nr03481.Author affiliations are listed at the end of this article.PMID:38198710 | DOI:10.4088/PCC.22nr03481 (Source: The Primary Care Companion for CNS Disorders)
Source: The Primary Care Companion for CNS Disorders - January 10, 2024 Category: Primary Care Authors: Parul Gupta Mamidipalli Sai Spoorthy Pooja R Raikar Source Type: research

The association between computed tomography attenuation value of renal angiomyolipoma associated with tuberous sclerosis complex and response to everolimus
ConclusionThe unenhanced CT value of TSC-RAML showed an independent correlation with the response to everolimus, suggesting its potential as a predictor of everolimus efficacy in patients with TSC-RAML. (Source: World Journal of Urology)
Source: World Journal of Urology - January 6, 2024 Category: Urology & Nephrology Source Type: research

Cannabidiol (Epidyolex ®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disord... (Source: BMC Psychiatry)
Source: BMC Psychiatry - January 4, 2024 Category: Psychiatry Authors: A. R. M üller, B. den Hollander, P. M. van de Ven, K. C. B. Roes, L. Geertjens, H. Bruining, C. D. M. van Karnebeek, F. E. Jansen, M. C. Y. de Wit, L. W. ten Hoopen, A. B. Rietman, B. Dierckx, F. A. Wijburg, E. Boot, M. M. G. Brands and A. M. van Eeghen Tags: Study Protocol Source Type: research

Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex
Patients with tuberous sclerosis complex (TSC) face an increased risk of maternal health complications and worsening disease manifestations during pregnancy. There are no established consensus guidelines that ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 2, 2024 Category: Internal Medicine Authors: Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield and Jennifer Glass Tags: Research Source Type: research

Genetics of Cardiac Tumours: A Narrative Review
Cardiac tumours can occur in association with genetic syndromes. Rhabdomyomas have been reported in association with tuberous sclerosis, myxomas with Carney's complex, cardiac fibromas with Gorlin syndrome, and paragangliomas with multiple endocrine neoplasm syndrome. The presentation and prognosis of cardiac tumours associated with genetic syndromes differ compared with sporadic cases. Knowledge about the associated syndromes' genetic features and extracardiac manifestations is essential for the diagnosis, prognosis, and management of cardiac neoplasms. (Source: Heart, Lung and Circulation)
Source: Heart, Lung and Circulation - December 30, 2023 Category: Cardiology Authors: Maha M. AlRasheed Tags: Review Source Type: research

Retrospective analysis of Canadian adults with tuberous sclerosis complex
Can J Neurol Sci. 2023 Dec 27:1-22. doi: 10.1017/cjn.2023.332. Online ahead of print.NO ABSTRACTPMID:38149783 | DOI:10.1017/cjn.2023.332 (Source: The Canadian Journal of Neurological Sciences)
Source: The Canadian Journal of Neurological Sciences - December 27, 2023 Category: Neurology Authors: Dominique Pal Nicole Forster Monika Madan Robyn Whitney Kirsten M Farncombe Raymond H Kim Source Type: research

Giant renal angiomyolipoma associated with tuberous sclerosis complex with spontaneous massive hemorrhage: A case report
Asian J Surg. 2023 Dec 25:S1015-9584(23)02045-6. doi: 10.1016/j.asjsur.2023.12.080. Online ahead of print.NO ABSTRACTPMID:38145913 | DOI:10.1016/j.asjsur.2023.12.080 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - December 25, 2023 Category: Surgery Authors: Jia-An Ding Pei-Cheng Li Jian Yang Cai-Fang Ni Source Type: research