Complexo da esclerose tuberosa

Referências

Principais artigos

Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.Texto completo  Resumo

Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.Texto completo  Resumo

Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.Texto completo  Resumo

de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.Texto completo  Resumo

Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis. 2019 Feb 13;14(1):39.Texto completo  Resumo

Artigos de referência

1. Northrup H, Aronow ME, Bebin EM, et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021 Oct;123:50-66.Texto completo  Resumo

2. Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.

3. Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5. Resumo

4. Caban C, Khan N, Hasbani DM, et al. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl Clin Genet. 2016 Dec 21;10:1-8.Texto completo  Resumo

5. Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88-100. Resumo

6. de Vries PJ, Wilde L, de Vries MC, et al. A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):309-20.Texto completo  Resumo

7. de Vries PJ, Belousova E, Benedik MP, et al. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet J Rare Dis. 2018 Sep 10;13(1):157.Texto completo  Resumo

8. Tye C, Mcewen FS, Liang H, et al. Long-term cognitive outcomes in tuberous sclerosis complex. Dev Med Child Neurol. 2020 Mar;62(3):322-29.Texto completo  Resumo

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11. Strzelczyk A, Rosenow F, Zöllner JP, et al. Epidemiology, healthcare resource use, and mortality in patients with tuberous sclerosis complex: A population-based study on German health insurance data. Seizure. 2021 Oct;91:287-95.Texto completo  Resumo

12. Tyburczy ME, Dies KA, Glass J, et al. Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet. 2015 Nov;11(11):e1005637.Texto completo  Resumo

13. Amin S, Kingswood JC, Bolton PF, et al. The UK guidelines for management and surveillance of tuberous sclerosis complex. QJM. 2019 Mar 1;112(3):171-82.Texto completo  Resumo

14. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared to TSC1, disease in multiple organs. Am J Hum Genet. 2001 Jan;68(1):64-80.Texto completo  Resumo

15. Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571-6.Texto completo  Resumo

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18. Julie LN, Maja PS, Lisbeth BM, et al. Mosaicism in tuberous sclerosis complex: a case report, literature review, and original data from Danish Hospitals. EMJ Dermatol. Nov 2021;9[1]:98-105.Texto completo

19. de Vries PJ, Whittemore VH, Leclezio L, et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan;52(1):25-35.Texto completo  Resumo

20. Leclezio L, Jansen A, Whittemore VH, et al. Pilot validation of the tuberous sclerosis-associated neuropsychiatric disorders (TAND) checklist. Pediatr Neurol. 2015 Jan;52(1):16-24.Texto completo  Resumo

21. Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007 Apr;48(4):617-30.Texto completo  Resumo

22. Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):680-6. Resumo

23. Benyounes N, Fohlen M, Devys JM, et al. Cardiac rhabdomyomas in tuberous sclerosis patients: a case report and review of the literature. Arch Cardiovasc Dis. 2012 Aug-Sep;105(8-9):442-5.Texto completo  Resumo

24. DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):650-7. Resumo

25. Dhakal M, Dhakal OP, Bhandari D. Polycystic kidney disease and chronic renal failure in tuberous sclerosis. BMJ Case Rep. 2013 Oct 2;2013. Resumo

26. Kingswood JC, Belousova E, Benedik MP, et al. Renal manifestations of tuberous sclerosis complex: key findings from the final analysis of the TOSCA study focussing mainly on renal angiomyolipomas. Front Neurol. 2020;11:972.Texto completo  Resumo

27. Di Marco F, Terraneo S, Imeri G, et al. Women with TSC: relationship between clinical, lung function and radiological features in a genotyped population investigated for lymphangioleiomyomatosis. PLoS One. 2016;11(5):e0155331.Texto completo  Resumo

28. Jóźwiak S, Nabbout R, Curatolo P, et al. Management of subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): clinical recommendations. Eur J Paediatr Neurol. 2013 Jul;17(4):348-52. Resumo

29. Monaghan M, Takhar P, Langlands L, et al. Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments. Front Med (Lausanne). 2022;9:967971.Texto completo  Resumo

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31. Franz DN. Non-neurologic manifestations of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):690-8. Resumo

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33. Cascarino M, Leclerc-Mercier S. Histological patterns of skin lesions in tuberous sclerosis complex: a panorama. Dermatopathology (Basel). 2021 Jul 4;8(3):236-52.Texto completo  Resumo

34. Sparling JD, Hong CH, Brahim JS, et al. Oral findings in 58 adults with tuberous sclerosis complex. J Am Acad Dermatol. 2007 May;56(5):786-90. Resumo

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38. Kopp CM, Muzykewicz DA, Staley BA, et al. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008 Oct;13(3):505-10. Resumo

39. Hinton RB, Prakash A, Romp RL, et al. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc. 2014 Nov 25;3(6):e001493.Texto completo  Resumo

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46. Sasongko TH, Kademane K, Chai Soon Hou S, et al. Rapamycin and rapalogs for tuberous sclerosis complex. Cochrane Database Syst Rev. 2023 Jul 11;7(7):CD011272.Texto completo  Resumo

47. Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. 2013 Jun 5;(6):CD001770.Texto completo  Resumo

48. van der Poest Clement E, Jansen FE, Braun KPJ, et al. Update on drug management of refractory epilepsy in tuberous sclerosis complex. Paediatr Drugs. 2020 Feb;22(1):73-84. Resumo

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50. Pellock JM, Hrachovy R, Shinnar S, et al. Infantile spasms: a U.S. consensus report. Epilepsia. 2010 Oct;51(10):2175-89.Texto completo  Resumo

51. Romanelli P, Verdecchia M, Curatolo P, et al. Epilepsy surgery for tuberous sclerosis. Pediatr Neurol. 2004 Oct;31(4):239-47. Resumo

52. Saneto R, Sparagana S, Kwan P, et al. Efficacy of add-on cannabidiol (CBD) treatment in patients with tuberous sclerosis complex (TSC) and a history of infantile spasms (IS): post hoc analysis of phase 3 trial GWPCARE6 (1534). Neurology. Apr 2021;96(suppl 15):1534.Texto completo

53. National Institute for Health and Care Excellence. Cannabidiol for treating seizures caused by tuberous sclerosis complex. Mar 2023 [internet publication].Texto completo

54. Thiele EA, Bebin EM, Bhathal H, et al. Add-on cannabidiol treatment for drug-resistant seizures in tuberous sclerosis complex: a placebo-controlled randomized clinical trial. JAMA Neurol. 2021 Mar 1;78(3):285-92. Resumo

55. Park S, Lee EJ, Eom S, et al. Ketogenic diet for the management of epilepsy associated with tuberous sclerosis complex in children. J Epilepsy Res. 2017 Jun;7(1):45-9.Texto completo  Resumo

56. Jansen FE, van Huffelen AC, Algra A, et al. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia. 2007 Aug;48(8):1477-84.Texto completo  Resumo

57. Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat. 2014 Oct 23;10:2021-30.Texto completo  Resumo

58. Zhang K, Hu WH, Zhang C, et al. Predictors of seizure freedom after surgical management of tuberous sclerosis complex: a systematic review and meta-analysis. Epilepsy Res. 2013 Aug;105(3):377-83. Resumo

59. Roth J, Roach ES, Bartels U, et al. Subependymal giant cell astrocytoma: diagnosis, screening, and treatment - recommendations from the International Tuberous Sclerosis Complex Consensus Conference 2012. Pediatr Neurol. 2013 Dec;49(6):439-44. Resumo

60. Li M, Zhou Y, Chen C, et al. Efficacy and safety of mTOR inhibitors (rapamycin and its analogues) for tuberous sclerosis complex: a meta-analysis. Orphanet J Rare Dis. 2019 Feb 13;14(1):39.Texto completo  Resumo

61. Nathan N, Wang JA, Li S, et al. Improvement of tuberous sclerosis complex (TSC) skin tumors during long-term treatment with oral sirolimus. J Am Acad Dermatol. 2015 Nov;73(5):802-8. Resumo

62. Egami A, Takahashi S, Kokubo T, et al. Topical sirolimus 0.2% gel for the management of tuberous sclerosis complex-related cutaneous manifestations: an interim analysis of postmarketing surveillance in Japan. Dermatol Ther (Heidelb). 2023 May;13(5):1113-26.Texto completo  Resumo

63. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet. 2013 Mar 9;381(9869):817-24. Resumo

64. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: extension of a randomized controlled trial. Nephrol Dial Transplant. 2016 Jan;31(1):111-9.Texto completo  Resumo

65. Peng ZF, Yang L, Wang TT, et al. Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review. J Urol. 2014 Nov;192(5):1424-30. Resumo

66. Nespoli LF, Albani E, Corti C, et al. Efficacy of everolimus low-dose treatment for cardiac rhabdomyomas in neonatal tuberous sclerosis: case report and literature review. Pediatr Rep. 2021 Mar 1;13(1):104-12.Texto completo  Resumo

67. McCarthy C, Gupta N, Johnson SR, et al. Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management. Lancet Respir Med. 2021 Nov;9(11):1313-27. Resumo

68. Gao N, Zhang T, Ji J, et al. The efficacy and adverse events of mTOR inhibitors in lymphangioleiomyomatosis: systematic review and meta-analysis. Orphanet J Rare Dis. 2018 Aug 14;13(1):134.Texto completo  Resumo

69. Argula RG, Kokosi M, Lo P, et al. A novel quantitative computed tomographic analysis suggests how sirolimus stabilizes progressive air trapping in lymphangioleiomyomatosis. Ann Am Thorac Soc. 2016 Mar;13(3):342-9.Texto completo  Resumo

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71. Young L, Lee HS, Inoue Y, et al. Serum VEGF-D concentration as a biomarker of lymphangioleiomyomatosis severity and treatment response: a prospective analysis of the Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus (MILES) trial. Lancet Respir Med. 2013 Aug;1(6):445-52.Texto completo  Resumo

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74. de Vries P, Humphrey A, McCartney D, et al. Consensus clinical guidelines for the assessment of cognitive and behavioural problems in tuberous sclerosis. Eur Child Adolesc Psychiatry. 2005 Jul;14(4):183-90. Resumo

75. Muzykewicz DA, Newberry P, Danforth N, et al. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 2007 Dec;11(4):506-13. Resumo

76. Franz DN, Capal JK. mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders. Orphanet J Rare Dis. 2017 Mar 14;12(1):51.Texto completo  Resumo

77. ClinicalTrials.gov. Trial of RAD001 and neurocognition in tuberous sclerosis complex (TSC). ClinicalTrials.gov identifier: NCT01289912. Jan 2018 [internet publication].Texto completo

78. ClinicalTrials.gov. A study of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON). ClinicalTrials.gov identifier: NCT01954693. Jan 2018 [internet publication].Texto completo

79. French JA, Lawson JA, Yapici Z, et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet. 2016 Oct 29;388(10056):2153-63.Texto completo  Resumo

80. Berhouma M. Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr. 2010 May;6(2):103-10. Resumo

81. Franz DN, Belousova E, Sparagana S, et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013 Jan 12;381(9861):125-32. Resumo

82. Franz DN, Belousova E, Sparagana S, et al. Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study. PLoS One. 2016 Jun 28;11(6):e0158476.Texto completo  Resumo

83. Treiber JM, Curry DJ, Weiner HL, et al. Epilepsy surgery in tuberous sclerosis complex (TSC): emerging techniques and redefinition of treatment goals. Childs Nerv Syst. 2020 Oct;36(10):2519-25. Resumo

84. Hancock E, O'Callaghan F, English J, et al. Melatonin excretion in normal children and in tuberous sclerosis complex with sleep disorder responsive to melatonin. J Child Neurol. 2005 Jan;20(1):21-5. Resumo

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