IS19 - Referências Bibliográficas by Grappa Marketing Editorial

Edição 19

EXCELÊNCIA GENÔMICA

Somos especialistas em genômica, convertemos ciência e tecnologia em qualidade de vida

Editorial Presidente do Conselho: Dr. Romeu Cortes Domingues Presidente Dasa: Pedro Bueno

Prezados,

stamos começando mais um ano repleto de sonhos, forças renovadas e esperança de que 2019 será muito melhor do que o ano antecessor. Refletindo sobre o que foi realizado e os desafios que se apresentam pela frente, queremos agradecer a importância dos nossos colaboradores DASA e de parceiros que estiveram conosco e que foram essenciais para as vitórias conquistadas na área de medicina diagnóstica no Brasil. Entre elas, a nossa marca GeneOne, que, desde 2017, vem se consolidando com o diferencial de ser um laboratório de genômica personalizado, com um corpo clínico técnico e especializado, amplo portfólio de testes, equipamentos e metodologias de última geração, além de capilaridade abrangente. A qualidade do teste está interligada pelas parcerias internacionais como Sophia Genetics, Natera, Myriad, HealthinCode e Quest Diagnostics. Ao longo desses anos, ampliamos e oferecemos soluções diagnósticas para tumores sólidos, teste pré-natal não invasivo, análise cromossômica por array e perfil genético para tratamento personalizado. Também trouxemos como pioneirismo para o Brasil a metagenômica para doenças infecciosas, em parceria com a empresa Karius, com um teste de DNA livre circulante que detecta mais de 1.500 tipos de agentes infecciosos. Expandimos o corpo clínico de médicos especialistas nacionais e internacionais na área de genética. Passamos a contar com um Núcleo de Assessoria Médica (NAM) e um Núcleo de Atendimento ao Cliente (NAC) altamente dedicados e promovemos a ampliação de conhecimentos por meio de congressos, simpósios e eventos científicos, impactando mais de 6 mil médicos/ano. Para este ano que se inicia, as novidades e o crescimento da marca GeneOne continuam com o lançamento do Núcleo Técnico Operacional (NTO), com uma infraestrutura totalmente diferenciada, além da adesão de novas parcerias. Iniciaremos um 2019 entusiasmados com o trabalho que temos pela frente, buscando aprimorar a qualidade dos nossos serviços, promovendo experiências e conhecimentos enriquecedores e estando sempre atentos aos novos contextos e às tecnologias pertinentes à área da medicina diagnóstica. Um feliz ano a todos! Dr. Emerson Gasparetto Vice-Presidente Médico da Dasa

Conselho Editorial: Dr. Emerson Gasparetto – Vice-Presidente Médico Dr. Gustavo Aguiar Campana – Diretor Médico de Análises Clínicas Dr. Leonardo Vedolin – Diretor Médico de Imagem Dra. Mônica Freire – Diretora Médica de Análises Clínicas RJ Dr. Roberto Cury – Diretor Médico de RDI SP Marcelo Luiz Mearim – Diretor de Marketing Helaine Zanzini Cury Hohendorff – Gerente de Marketing Marco Antônio de Castro – Gerente de Produto Adriana Marçalo – Especialista de Marketing Beatriz Anselmo Ferreira dos Santos – Especialista de Marketing Shirley Carolina Costa – Analista de Marketing Participaram desta edição: Prof. Dr. Antônio José da Rocha Prof. Dr. Carlos Eduardo Suaide Silva Dr. Cristovam Scapulatempo Prof. Dr. Davi Le Bihan Dr. Diego Cardoso Fragoso Dr. Eduardo Perrone Dr. Felipe T. Pacheco Dr. Gustavo Guida Dr. Heron Werner Dra. Ilana Zalcberg Dr. José Eduardo Levi Dr. Jurandir Piassi Passos Dr. Marcelo Imbroinise Bittencourt Dra. Maria Fernanda Milanezi Dra. Michele Migliavacca Dra. Nara Lygia de Macena Sobreira Dr. Renato Hoffmann Nunes Profa. Dra. Rica Buchler Dr. Rodrigo Ambrosio Fock Prof. Dr. Rodrigo Bellio de Mattos Barretto Dra. Silvia Herrera Tiragem: 3.200 www.dasa.com.br Grappa Marketing Editorial Diretoria: Adriano De Luca Juliano Guarany De Luca Editor: Adriano De Luca (MTB: 49.539) Arte: Paula Cristina d'Andréa Redação: Suênia Cardoso Revisão: Jaqueline Kanashiro contato@grappa.com.br www.grappa.com.br Fotos: Alessandro Mendes e Sergio Zacchi Responsável técnico: Dr. Octávio Fernandes (Cremesp: 142.032)

EDIÇÃO 19 | Genética

1 - Painéis de cardiogenética na prática clínica

Referências Bibliográficas: 1.

Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232.

Kostareva A, Kiselev A, Gudkova A, et al. Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by next-generation sequencing. PLoS One 2016; 11: e0163362.

Towbin JA. Inherited cardiomyopathies. Circ J 2014; 78: 2347–2356.

Faludi AA, Izar MCO, Saraiva JFK, et al. Atualização da Diretriz Brasileira de Dislipidemias e Prevenção da Aterosclerose – 2017. Arq Bras Cardiol. 2017 Jul;109(2 Supl 1):1-76.

Czepluch FS, Wollnik B, Hasenfuß G. Genetic determinants of heart failure: facts and numbers. ESC Heart Fail. 2018;5:211-217.

Punetha J, Hoffman EP. Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar. Circ Cardiovasc Genet 2013; 6: 427–434.

Hershberger RE, Lindenfeld J, MestroniL, et al.Genetic evaluation of cardiomyopathy – a Heart Failure Society of America practice guideline. J Card Fail 2009;15: 83–97.

Schulze-Bahr E, Klaassen S, Abdul-Khaliq H, et al. Molecular diagnostics of cardiovascular diseases. Expert consensus statement by the German Cardiac Society (DGK) and the German Society of Pediatric Cardiology (DGPK). Kardiologe 2015; 9: 213–243.

Li X, Zhang P. Genetic determinants of myocardial dysfunction. J Med Genet 2017; 54: 1–10.

10. Haas J, Frese KS, Peil B et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J 2015; 36: 1123–1135a. 11. Tayal U, Prasad S, Cook S. Genetics and genomics of dilated cardiomyopathy and systolic heart failure. Genome Med 2017; 9: 20. 12. Herman DS, Lam L, Taylor MR et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012;366: 619–628. 13. Walsh R, Buchan R, Wilk A, et al. Defining the genetic architecture of hypertrophic cardiomyopathy: reevaluating the role of nonsarcomeric genes. Eur Heart J 2017;38: 3461–3468. 14. van Rijsingen IA, Arbustini E, Elliott PM, Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012; 59: 493–500. 15. van Spaendonck-Zwarts KY, van Hessem L, Jongbloed JD, et al. Desmin-related myopathy. Clin Genet 2010; 80: 354–366. 16. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227–2232. 17. Roma-Rodrigues C, Fernandes AR. Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy. Appl Clin Genet 2014; 7: 195–208. 18. Nagueh SF. Anderson-Fabry disease and other lysosomal storage disorders. Circulation 2014; 130: 1081–1090.

EDIÇÃO 19 | Genética 19. Kostareva A, Kiselev A, Gudkova A, et al. Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by next-generation sequencing. PLoS One 2016; 11: e0163362. 20. Towbin JA. Inherited cardiomyopathies. Circ J 2014; 78: 2347–2356. 21. van der Smagt JJ, van der Zwaag PA, van Tintelen JP, et al. Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation. Cardiology 2012; 123: 181–189. 22. Pinamonti B, Brun F, Mestroni L, et al. Arrhythmogenic right ventricular cardiomyopathy: from genetics to diagnostic and therapeutic challenges. World J Cardiol 2014; 6: 1234–1244. 23. Al-Khatib SM, Stevenson WG, Ackerman MJ, et al. 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol. 2018 Oct 2;72(14):e91-e220. 24. Faludi AA, Izar MCO, Saraiva JFK, et al. Atualização da Diretriz Brasileira de Dislipidemias e Prevenção da Aterosclerose – 2017. Arq Bras Cardiol. 2017 Jul;109(2 Supl 1):1-76. 25. Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2733–2779.

2 - Investigação genética em transtorno do espectro autista

Referências Bibliográficas: 1.

Schaefer GB, Mendelsohn NJ. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013; 15(5):399-407.

Miles JH. Autism spectrum disorders – A genetics review. Genet Med. 2011;13(4):278-290 .

Miles JH, Hillman RE. Value of a clinical morphology examination in autism. Am J Med Gen. 2000;91:245-253.

Miles JH, Takahashi TN, Hong J, Munden N, Flournoy N, Braddock SR, Martin RA, Spence MA, Hillman RE, Farmer JE. Development and validation of a measure of dysmorphology: useful for autism subgroup classification. Am J Med Gen. 2008;146A:1101-1116.

Toriello HV. Approach to the genetic evaluation of the child with autism. Pediatr Clin N Am. 2012; 59:113-128

Caglayan AO. Genetic causes of syndromic and non-syndromic autism. Dev Med Child Neurol. 2010; 52(2):130-8.

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th edition: DSM-5. 2013, 991 p.

EDIÇÃO 19 | Genética

3 - Epilepsia na era do sequenciamento de nova geração e a importância da elucidação etiológica

Referências Bibliográficas: 1.

Fisher, R.S., et al. (2014) ILAE Official Report: A Practical Clinical Definition of Epilepsy. Epilepsia, 55, 475-482.

World Health Organization. Epilepsy.Disponível em: http://www.who.int/news-room/factsheets/detail/epilepsy, acessado em: 5 nov. de 2018.

Yvonne G. Weber, Saskia Biskup, Katherine L. Helbig, Sarah von Spiczak & Holger Lerche (2017): The role of genetic testing in epilepsy diagnosis and management, Expert Review of Molecular Diagnostics, DOI: 10.1080/14737159.2017.1335598

Rikke S. Møller, Hans A. Dahl & Ingo Helbig (2015) The contribution of next generation sequencing to epilepsy genetics, Expert Review of Molecular Diagnostics, 15:12, 1531-1538, DOI: 10.1586/14737159.2015.1113132.

Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), {date}. World Wide Web URL: https://omim.org/

4 - Triagem pré-concepção

Referências Bibliográficas: 1.

Gregg, A. R. (2018). Expanded Carrier Screening. Obstetrics and Gynecology Clinics of North America, 45(1), 103–112.

5 - Além do exoma

Referências Bibliográficas: 1.

Fahrner JA, Bjornsson HT. Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annu Rev Genomics Hum Genet. 2014;15:269-93.

EDIÇÃO 19 | Genética 2.

Remacha L1, Currás-Freixes M1, Torres-Ruiz R2, Schiavi F3, Torres-Pérez R1, Calsina B1, Letón R1, CominoMéndez I1, Roldán-Romero JM1, Montero-Conde C1, Santos M1, Pérez LI1, Pita G4, Alonso MR4, Honrado E5, Pedrinaci S6, Crespo-Facorro B7, Percesepe A8, Falcioni M9, Rodríguez-Perales S2, Korpershoek E10, RamónMaiques S11, Opocher G3, Rodríguez-Antona C1,12, Robledo M1,12, Cascón A13,14. Gain-of-function mutations in DNMT3A in patients with paraganglioma.

Genet Med. 2018 Dec;20(12):1644-1651.

Yang Y., Muzny D. M., Xia F., Niu Z., Person R., Ding Y., et al. 2014. Molecular findings among patients referred for clinical whole‐exome sequencing. JAMA 312:1870–1879.

Retterer K., Juusola J., Cho M. T., Vitazka P., Millan F., Gibellini F., et al. 2015. Clinical application of whole‐ exome sequencing across clinical indications. Genet. Med. Jul;18:696–704.

Chong J. X., Buckingham K. J., Jhangiani S. N., Boehm C., Sobreira N., Smith J. D., et al. 2015. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities. Am. J. Hum. Genet.97:199–215.

Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med. 2017 Jan 5;376(1):21-31.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N. Genet Med. 2018 Nov 23.

10. RNA-Seq blood transcriptome profiling in familial attention deficit and hyperactivity disorder (ADHD). 11. Lorenzo G, Braun J, Muñoz G, Casarejos MJ, Bazán E, Jimenez-Escrig A. Psychiatry Res. 2018Dec;270:544-546. 12. Hum Genet. 2016 Mar;135(3):359-62. Clinical sequencing: is WGS the better WES? Meienberg J1, Bruggmann R2, Oexle K1, Matyas G3,4. 13. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Sobreira N, Schiettecatte F, Valle D, Hamosh A. Hum Mutat. 2015 Oct;36(10):928-30. 14. Matchmaker Exchange. Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL; Matchmaker Exchange Consortium. Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15.

6 - Triagem neonatal por sequenciamento de nova geração

Referências Bibliográficas: 1.

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary; Michael S. Watson, Marie Y. Mann, Michele A. Lloyd-Puryear, Piero Rinaldo, R. Rodney Howell; Pediatrics May 2006, 117 (Supplement 3) S296-S307; DOI: 10.1542/peds.2005-2633I

EDIÇÃO 19 | Genética 2.

Cynthia M. Powell, “What Genomic Sequencing Can Offer Universal Newborn Screening Programs,” The Ethics of Sequencing Newborns: Recommendations and Reflections, special report, Hastings Center Report 48, no. 4 (2018): S18‐S19. DOI: 10.1002/hast.878

Josephine Johnston, John D. Lantos, Aaron Goldenberg, Flavia Chen, Erik Parens, Barbara A. Koenig, and members of the NSIGHT Ethics and Policy Advisory Board, “Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies,” The Ethics of Sequencing Newborns: Recommendations and Reflections, special report, Hastings Center Report 48, no. 4 (2018): S2+ [20 pages]. DOI: 10.1002/hast.874

7 - Biópsia líquida

Referências Bibliográficas: 1.

Domínguez-Vigil IG, Moreno-Martínez AK, Wang JY, Roehrl MHA, Barrera-Saldaña HA. The dawn of the liquid biopsy in the fight against cancer. Oncotarget. 2017 Dec 8;9(2):2912-2922. doi: 10.18632/oncotarget.23131. eCollection 2018 Jan 5. Review.

Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, et al. Detection of Circulating Tumor DNA in Early- and Late-Stage Human Malignancies. Sci Transl Med 2014, 6:224ra24.

3. De Vlaminck I, Martin L, Kertesz M, Patel K, Kowarsky M, Strehl C, Cohen G,Luikart H, Neff NF, Okamoto J, Nicolls MR, Cornfield D, Weill D, Valantine H, Khush KK, Quake SR. Noninvasive monitoring of infection and rejection after lung transplantation. Proc Natl Acad Sci U S A. 2015 Oct 27;112(43):13336-41. doi:10.1073/pnas. 1517494112. 4.

Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med. 2010 Dec 8;2(61):61ra91. doi:10.1126/scitranslmed.3001720.

Hong DK, Blauwkamp TA, Kertesz M, Bercovici S, Truong C, Banaei N. Liquid biopsy for infectious diseases: sequencing of cell-free plasma to detect pathogen DNA in patients with invasive fungal disease. Diagn Microbiol Infect Dis. 2018 Nov;92(3):210-213. doi: 10.1016/j.diagmicrobio.2018.06.009.

Verhoeven JGHP, Boer K, Van Schaik RHN, Manintveld OC, Huibers MMH, Baan CC, Hesselink DA. Liquid Biopsies to Monitor Solid Organ Transplant Function: A Review of New Biomarkers. Ther Drug Monit. 2018 Oct;40(5):515-525. doi:0.1097/FTD.0000000000000549.

Sacher AG, Paweletz C, Dahlberg SE, Alden RS, O'Connell A, Feeney N, Mach SL, Jänne PA, Oxnard GR. Prospective Validation of Rapid Plasma Genotyping for the Detection of EGFR and KRAS Mutations in Advanced Lung Cancer. JAMA Oncol. 2016 Apr 7. doi: 10.1001/jamaoncol.2016.0173.

EDIÇÃO 19 | Genética

8 - Miocardiopatia hipertrófica

Referências Bibliográficas: 1.

Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733-79.

Silva, CES. O ecocardiograma – princípios e aplicações clínicas. 2. ed. Rio de Janeiro: Revinter, 2012.

Oechslin EN et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Col Cardiol 2000;36:493.

Engberding R, Bender F. Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. Am J Cardiol 1984;53:1733-4.

Bleyl SB et al. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 1997;72:257.

9 - Avaliação por imagem das ataxias cerebelares na infância

Referências Bibliográficas: 1.

Fogel BL. Childhood Cerebellar Ataxia. Maria BL, ed. Journal of Child Neurology 2012;27:1138–45.

Schols L. Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Brain 1997;120:2131–40.

Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009;132:3199–230.

PhD DD, PhD KJM, MD AJB. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. The Lancet Neurology 2013;12:381–93.

Bosemani T, Orman G, Boltshauser E, et al. Congenital Abnormalities of the Posterior Fossa. RadioGraphics 2015;35:200–20.

Volpe JJ. Cerebellum of the Premature Infant: Rapidly Developing, Vulnerable, Clinically Important. Journal of Child Neurology 2009;24:1085–104.

Steggerda SJ, Leijser LM, Wiggers-de Bruïne FT, et al. Cerebellar Injury in Preterm Infants: Incidence and Findings on US and MR Images. Radiology 2009;252:190–9.

Srinivasan L, Allsop J, Counsell SJ, et al. Smaller cerebellar volumes in very preterm infants at term-equivalent age are associated with the presence of supratentorial lesions. American Journal of Neuroradiology 2006;27:573–9.

Naselli A, Pala G, Cresta F, et al. Acute post-infectious cerebellar ataxia due to co-infection of human herpesvirus-6 and adenovirus mimicking myositis. http://doi.org/10.1186/s13052-014-0098-y.

EDIÇÃO 19 | Genética 10. Ryan MM, Engle EC. Acute ataxia in childhood. Journal of Child Neurology 2003;18:309–16. 11. Salas AA, Nava A. Acute cerebellar ataxia in childhood: initial approach in the emergency department. Emergency Medicine Journal 2010;27:956–7. 12. Schneider T, Thomalla G, Goebell E, et al. Magnetic resonance imaging findings in patients presenting with (sub)acute cerebellar ataxia. Neuroradiology 2015;57:551–9. 13. De Bruecker Y, Claus F, Demaerel P, et al. MRI findings in acute cerebellitis. Eur Radiol 2004;14:1–6. 14. Nagel MA, Gilden D. Complications of Varicella Zoster Virus Reactivation. Curr Treat Options Neurol 2013;15:439–53. 15. MD AAP. Infections of the Cerebellum. Neurologic Clinics of NA 2014;32:1117–31. 16. Brusse E, Maat-Kievit JA, Van Swieten JC. Diagnosis and management of early- and late-onset cerebellar ataxia. Clin Genet 2006;71:12–24. 17. Johnson KJ, Cullen J, Barnholtz-Sloan JS, et al. Childhood Brain Tumor Epidemiology: A Brain Tumor Epidemiology Consortium Review. Cancer Epidemiology Biomarkers & Prevention 2014;23:2716–36. 18. Buckner RL, Krienen FM, Castellanos A, et al. The organization of the human cerebellum estimated by intrinsic functional connectivity. Journal of Neurophysiology 2011;106:2322–45. 19. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. The Lancet Neurology 2007;6:245–57. 20. Akhlaghi H, Corben L, Georgiou-Karistianis N, et al. Superior Cerebellar Peduncle Atrophy in Friedreich’s Ataxia Correlates with Disease Symptoms. Cerebellum 2010;10:81–7. 21. Mascalchi M. The Cerebellum Looks Normal in Friedreich Ataxia. American Journal of Neuroradiology 2013;34:E22–2. 22. Waldmann T, Mcintire KR. SERUM-ALPHA-FETOPROTEIN LEVELS IN PATIENTS WITH ATAXIATELANGIECTASIA. The Lancet 1972;300:1112–5. 23. Al-Maawali A, Blaser S, Yoon G. Diagnostic Approach to Childhood-Onset Cerebellar Atrophy. Maria BL, ed. Journal of Child Neurology 2012;27:1121–32. 24. Kim J, Lee S-K, Kim EY, et al. Neuroradiologic findings in children with mitochondrial disorder: correlation with mitochondrial respiratory chain defects. Eur Radiol 2008;18:1741–8. 25. Saneto RP, Friedman SD, Shaw DWW. Neuroimaging of mitochondrial disease. Mitochondrion 2008;8:396–413. 26. HERS HG. α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease). Biochemical Journal 1963;86:11–6. 27. Inglese M, Nusbaum AO, Pastores GM, et al. MR imaging and proton spectroscopy of neuronal injury in lateonset GM2 gangliosidosis. American Journal of Neuroradiology 2005;26:2037–42. 28. Pearl PL, Krasnewich D. Neurologic Course of Congenital Disorders of Glycosylation. Journal of Child Neurology 2001;16:409. 29. Feraco P, Mirabelli-Badenier M, Severino M, et al. The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a. American Journal of Neuroradiology 2012;33:2062–7.

30. Reinhold A, Scheer I, Lehmann R, et al. MR Imaging Features in Marinesco-Sjögren Syndrome: Severe Cerebellar Atrophy Is Not an Obligatory Finding. American Journal of Neuroradiology 2003;24:825–8. 31. Synofzik M, Soehn AS, Gburek-Augustat J, et al. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis 2013;8:41.

EDIÇÃO 19 | Genética 8.

Aldred SK, Takwoingi Y, Guo B, Pennant M, FDeeks JJ, Neilson JP, Alfirevic Z. First trimester ultrasound tests alone or in combination with first trimester serum tests for Down’s Syndrome screening (Review). Cochrane Library Reviews 2017. Issue 3.

Rolnik DL, Wright D, Poon LCY, Syngelaki A, O Gorman N, de Paco Matallana C, Akolekar R, Cícero S, Janga D Singh M, Molina FS, Persico N, Jani JC, Plasencia W, Papaioannou G, Tenenbaum- Gavish K, Nicolaides KH. ASPRE trial: performance of screenving for preterm pre-eclampsia. Ultrasound Obstet Gynecol 2017;50(4):492-495.

10. Poon LC, Wright D, Rolnik DL, Syngelaki A, Delgado JL, Tsokaki T, Leipold G, Akolekar R, Shearing S, De Stefani L, Jani JC, Plasencia W, Evangelinakis N, Gonzalez-Vanegas O, Persico N, Nicolaides KH. Aspirin for Evidence-based preeclampsia prevention trial: effect of asprin in prevetion of pre term preeclampsia in subgroup of women according to their characteristics and medical and obstetrical history. Am J Obstet Gynecol. 2017 Nov;217(5):585.e1-585.

EDIÇÃO 19 | Genética 32. Martin MH, Bouchard JP, Sylvain M, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. American Journal of Neuroradiology 2007;28:1606–8. 33. Gazulla J, Mayayo-Sinués E, Benavente I, et al. Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature. Can J Neurol Sci 2014;41:37–41. 34. Rizzo WB, Lin Z, Carney G. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren–Larsson syndrome. Chemico-Biological Interactions 2001;130-132:297–307. 35. Willemsen MAAP, van der Graaf M, van der Knaap MS, et al. MR Imaging and Proton MR Spectroscopic Studies in Sjögren-Larsson Syndrome: Characterization of the Leukoencephalopathy. American Journal of Neuroradiology 2004;25:649–57. 36. Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology 2008;70:1623–9. 37. Barkovich AJ, Deon S. Reprint of “Hypomyelinating disorders: An MRI approach. Neurobiology of Disease 2016;92:46–54. 38. Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2010;134:143–56. 39. Khadilkar S, Jaggi S, Patel B, et al. A practical approach to diseases affecting dentate nuclei. Clinical Radiology 2016;71:107–19.

10 - Avanço na avaliação morfológica do 1° trimestre

Referências Bibliográficas: 1.

Disponível em: www.fetalmedicine.com. Acessado em: jan. 2019.

Chaoui R, Nicolaides K.H. Detecting open spina bífida at the 11-13 week scan by assessing intracranial translucency and the posterior brain region:mid-sagittal or axial plane Ultrasound Obstet Gynecol 2011:38:609-612.

Chaoui R, Orosz G, Heling KS, Sarut-Lopez A, Nicolaides KH. Maxillary gap at 11-13 weeks' gestation: marker of cleft lip and palate. Ultrasound Obstet Gynecol 2015; 46(6)665-9.

Wright D., Spencer K., Kagan K., Torrings N., Petersen O. B., Christou A., Kaççikas J., Nicolaides K.H. First- trimester combined screenig for trisomy 21 at 7-14 weeks’ gestacion. Ultrasound Obstet Gynecol 2010;36:404-411.

Kagan K.O.,Wright D., Valencia C., Maiz N., Nicolaides K.H. Screening for trisomies 21,18 and 13 by maternal age, fetal nuchal trasnlucency, fetal heart rate, free β-hCG and pregnacy associated plasma protein A. Human Rreproduction 2008;vol23, n° 9:1968-1975.

Ranjit A., Syngelaki A., Poon L, Wright D., Nicolaides K.H. Competing Risk Model in Early Screening for Preeclampsia by Biophysical and Biochemical Markers. Fetal Diagn Ther 2013;33:8-15.

Roberge S., Nicolaides K.H., Demers S., Villas P, Bujold E. Prevation of perinatal death and adverse perinatal outcome using low-dose asprin: a meta-analysis. Ultrasound Obstet Gynecol 2013;41:491-499.