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

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

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

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

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

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. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805-8. Resumo

7. Sampson JR, Scahill SJ, Stephenson JB, et al. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet. 1989 Jan;26(1):28-31. Resumo

8. O'Callaghan FJ, Shiell AW, Osborne JP, et al. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. 1998 May 16;351(9114):1490. Resumo

9. 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

10. 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

11. 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

12. 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

13. Mak BC, Yeung RS. The tuberous sclerosis complex genes in tumor development. Cancer Invest. 2004;22:588-603. Resumo

14. 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

15. 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

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

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

18. The European Consortium on MEN1: Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13 encompassing the multiple endocrine neoplasia type 1 (MEN1) gene. Genomics. 1997 Aug 15;44(1):94-100. Resumo

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

20. Devroede G, Lemieux B, Masse S, et al. Colonic hamartomas in tuberous sclerosis. Gastroenterology. 1988 Jan;94(1):182-8. Resumo

21. Wiznitzer M. Autism and tuberous sclerosis. J Child Neurol. 2004 Sep;19(9):675-9. Resumo

22. Prather P, de Vries PJ. Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):666-74. Resumo

23. Jie L, Volney S. Periventricular heterotopia. Epilepsy Behav. 2005 Sep;7(2):143-9. Resumo

24. Parrini E. Periventricular heterotopia; phenotypic heterogeneity and correlation with filamin A mutations. Brain. 2006 Jul;129(Pt 7):1892-906. Resumo

25. Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Derm. 1997 Jul;133(7):853-7. Resumo

26. Spring P, Fellmann F, Giraud S, et al. Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases. Am J Dermatopathol. 2013 Apr;35(2):241-5. Resumo

27. Crane JP, LeFevre ML, Winborn RC, et al. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetuses. The RADIUS Study Group. Am J Obstet Gynecol. 1994 Aug;171(2):392-9. Resumo

28. Gagnon A, Wilson RD, Allen VM, et al; Society of Obstetricians and Gynaecologists of Canada. Evaluation of prenatally diagnosed structural congenital anomalies. J Obstet Gynaecol Can. 2009 Sep;31(9):875-81. Resumo

29. 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

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

31. 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

32. Hancock E, Osborne JP. Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol. 1999 Feb;14(2):71-4. Resumo

33. 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

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

35. 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

36. 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

37. 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

38. 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

39. 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

40. 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

41. 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

42. 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

43. 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

44. Sasongko TH, Ismail NF, Zabidi-Hussin Z. Rapamycin and rapalogs for tuberous sclerosis complex. Cochrane Database Syst Rev. 2016 Jul 13;7(7):CD011272.Texto completo  Resumo

45. 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

46. 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

47. Koenig MK, Bell CS, Hebert AA, et al. Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex: the TREATMENT randomized clinical trial. JAMA Dermatol. 2018 Jul 1;154(7):773-80.Texto completo  Resumo

48. Wataya-Kaneda M, Ohno Y, Fujita Y, et al. Sirolimus gel treatment vs placebo for facial angiofibromas in patients with tuberous sclerosis complex: a randomized clinical trial. JAMA Dermatol. 2018 Jul 1;154(7):781-8Texto completo  Resumo

49. Jóźwiak S, Sadowski K, Kotulska K, et al. Topical use of mammalian target of rapamycin (mTOR) inhibitors in tuberous sclerosis complex - a comprehensive review of the literature. Pediatr Neurol. 2016 Aug;61:21-7. Resumo

50. 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

51. 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

52. 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

53. 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

54. 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

55. 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

56. Courtwright AM, Goldberg HJ, Henske EP, et al. The effect of mTOR inhibitors on respiratory infections in lymphangioleiomyomatosis. Eur Respir Rev. 2017 Jan 17;26(143):160004.Texto completo  Resumo

57. 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

58. Sullivan EJ. Lymphangioleiomyomatosis: a review. Chest. 1998 Dec;114(6):1689-703. Resumo

59. Karbowniczek M, Astrinidis A, Balsara BR, et al. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med. 2003 Apr 1;167(7):976-82.Texto completo  Resumo

60. 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

61. 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

62. 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

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

64. 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

65. 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

66. 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

67. Niedermeyer J. Rapamycin for recurrent LAM following lung transplantation - a first experience. Paper presented at LAM Foundation Research Conference. Apr 2003; Cincinnati, OH.

68. Wienecke R, Fackler I, Akdeli N, et al. Effective treatment of TSC with rapamycin. Unpublished data presented at TSC Conference. Sep 2004; Cambridge, UK.

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