medigraphic.com
ISSN 1561-3194 (Electronic)

2016, Number 1

<< Back Next >>

Rev Ciencias Médicas 2016; 20 (1)

Medical Genetics and world-famous people: personalities suffering from genetic-cause diseases or morphogenesis defects

Morales PE, Alvarez FMA

Language: Spanish
References: 45
Page: 156-164
PDF size: 233.21 Kb.


ABSTRACT

Introduction: Medical Genetics is the science of biological variation and it is associated with health and disease, its object of study is the prevention and treatment of genetic diseases and congenital defects. Throughout the history of mankind world-famous people have suffered from these conditions. Knowing their history is of great interest to those dedicated to the medical sciences.
Objective: to identify world-famous people who are assumed or known by suffering from genetic-cause diseases and/or defects in the morphogenesis.
Method: medical literature searching was conducted, mainly using the PubMed database. A strategy was designed where the terms used were: "famous persons", "genetic diseases and inborn" were used. The articles chosen were published in English or Spanish languages which were accessed as full texts, evaluating their contents.
Results: world-famous people who have suffered from some genetic-cause diseases were identified, many of them could have a greater success if they have had an early diagnosis and then acted in view of that.
Conclusion: human being can achieve great goals, when it is the aim; undoubtedly the application of scientific advances can lead to the enjoyment of a full lifetime.


REFERENCES

  1. Menéndez Garcia Reinaldo, Orraca Castillo Miladys, Licourt Otero Deysi, Travieso Téllez Anitery. La Genética Comunitaria como demostración de la pertinencia social de la Universidad. Rev Ciencias Médicas [revista en la Internet]. 2013 Oct [citado 2015 Dic 08] ; 17(5): 109-122. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561 -31942013000500011&lng=es

  2. Rudan I. New technologies provide insights into genetic basis of psychiatric disorders and explain their co-morbidity. Psychiatr Danub. 2010 Jun;22(2):190-2. Disponible en: http://www.hdbp.org/psychiatria_danubina/pdf/dnb_vol22_no2/dnb_vol22_no2_190.pdf .

  3. Chitayat D, Langlois S, Wilson RDJ. Prenatal screening for fetal aneuploidy in singleton pregnancies. Obstet Gynaecol Can. 2011 Jul;33(7):736-50. Disponible en: http://sogc.org/wp-content/uploads/2013/01/gui261CPG1107E.pdf .

  4. Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: Introduction. Am J Med Genet Part A. 2009; 149A:25.

  5. Hall BD, Graham JM Jr., Cassidy SB, Opitz JM. Elements of morphology: Standard Terminology for the periorbital region. Am J Med Genet Part A . 2009; 149A:2939.).

  6. Carey JC, Cohen MM Jr., Curry CJR, Devriendt K, Holmes LB, Verloes A. Elements of morphology: Standard terminology for the lips, mouth, and oral region. Am J Med Genet Part A. 2009;149A:7792.

  7. Hunter A, Frias J, Gillessen-Kaesbach G, HughesH, Jones K, Wilson L. Elements of morphology: Standard terminology for the ear. Am J Med Genet Part A. 2009; 149A:4060.

  8. Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Julie McGaughran, Muenke M, Neri G. Elements of Morphology: Standard Terminology for the Head and Face. Am J Med Genet A. 2009; 149A(1): 628.

  9. Hennekam RCM, Allanson JE, Biesecker LG, Carey JC, Vilain E. 2009. Elements of Morphology: Standard Terminology for the External Genitalia. Am J Med Genet A. 2013; 0(6): 12381263.

  10. Leonardo da Vinci. Cirugía maxilofacial. Infomed [Internet] [citado 8 de Diciembre del 2015] Disponible en:http://files.sld.cu/cirugiamaxilo/files/2011/01/leonardo.pdf

  11. Alcalá-Cerra G, Alcalá-Cerra L. Picnodistosis: El caso de Toulouse-Lautrec. Salud Uninorte. Barranquilla (Col.). 2006; 22 (1): 52-59. Disponible en: http://rcientificas.uninorte.edu.co /index.php/salud/article/viewArticle/4105/5691 .

  12. Emery AE1, Emery M. Genetics in art. J Med Genet. 1994;31(5):420-2. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049880/ .

  13. Karcioglu ZA. Did Edgar Degas have an inherited retinal degeneration? Ophthalmic Genet. 2007;28(2):51-5. Disponible en: http://www.tandfonline.com/doi/full/10.1080 /13816810701351313.

  14. Gordon AM. Abraham Lincoln—a medical appraisal. J Ky Med Assoc. 1962; 60:249-53.

  15. Schwartz H. Abraham and the Marfan syndrome, JAMA. 1964; 187:473-479.

  16. Symposium on President Lincoln's Health on April 18-19, 2009. [homepage en Internet]; citado 8 de diciembre del 2015]. Disponible en: http://bottledmonsters.blogspot.com/2009/01 /save-date-418-192009-symposium-on.html

  17. Farag TI. The maladies of celebrities. [monografía en Internet] The Ambassadors - Vol. 5, Issue 1 (January 2002). [citado 8 de diciembre del 2015]. Disponible en:http: http://ambassadors.net/archives/issue11/editorial.htm .

  18. Wolf P. Creativity and chronic disease. Niccolo Paganini (1782-1840). West J Med. 2001;175(5):345. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1071620 /?report=reader.

  19. Vicent Schiavelli. [citado 8 de diciembre del 2015]. Disponible en: http://marialucia2013.xpg.uol.com.br/hist.vicent.htm

  20. Achard Syndrome [100700 OMIM] en: Online Mendelian Inheritance in Man (OMIM®) [página principal de sitio Web]. Baltimore: The Johns Hopkins University School of Medicine [actualizado: 7/24/2015; citado: 12/7/2015]. Disponible en: http://omim.org/entry/100700

  21. Correa R. Vincent van Gogh: a pathographic analysis.Med Hypotheses. 2014;82(2):141-4. doi: 10.1016/j.mehy.2013.11.022. Epub 2013 Dec 1. Disponible en: http://www.medical-hypotheses.com/article/S0306-9877%2813%2900551-3/abstract .

  22. Goya [citado 8 de diciembre del 2015]. Disponible en: http://www.ippok.com/blog/personajes-famosos-con-enfermedades-raras/

  23. Ringman JM. The Huntington disease of Woody Guthrie: another man done gone.Cogn Behav Neurol. 2007;20(4):238-43. Disponible en : http://www.pubfacts.com/detail/18091075 /The-Huntington-disease-of-woody-guthrie-another-man-done-gone .

  24. Monaco F1, Servo S, Cavanna AE. Famous people with Gilles de la Tourette syndrome? J Psychosom Res. 2009;67(6):485-90. doi: 10.1016/j.jpsychores.2009.07.003. Epub 2009 Sep 30. Disponible en : http://www.jpsychores.com/article/S0022-3999%2809%2900267-0/pdf .

  25. Jim Abbott [homepage en Internet] in: Baseball-reference.com [citado 8 de diciembre del 2015]. Disponible en: http://www.baseball-reference.com/players/a/abbotji01.shtml

  26. Jobling MA. Genes and queens. Investigative Genetics 2011; 2:14

  27. Thompson EM, Winter RM. Another family with the "Habsburg jaw". J Med Genet 1988; 25:838-842. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051613/ .

  28. Cerda L J. Carlos de España, el hechizado. Rev Med Chil. 2008 ;136(2):267-70. doi: /S0034-98872008000200019. Epub 2008 May 7. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000200019&lng=es .

  29. Eugenia Martinez Vallejo, la monstrua vestida. [citado 8 de diciembre del 2015]. Disponible en: https://www.museodelprado.es/coleccion/obra-de-arte/eugenia-martinez-vallejo-vestida /f8092cbd-8dd4-4c63-af63-1402940150f0.

  30. Travieso TellezA, Menéndez García R, Licourt Otero D. Caracterización clínico genética del síndrome Prader Willi. Rev Ciencias Médicas, Dic 2014, vol.18, no.6, p.974-982. Disponible en: http://scielo.sld.cu/scielo.php?pid=S1561-31942014000600005&script=sci_arttext .

  31. Conde Gouriev. Artehistoria. [homepage en Internet]. [citado 8 de diciembre del 2015]. Disponible en: http://www.artehistoria.com/v2/obras/2613.htm

  32. Madame Marcotte de Sainte Marie. Artehistoria. [homepage en Internet]. [citado 8 de diciembre del 2015]. Disponible en: http://www.artehistoria.com/v2/obras/2614.htm

  33. Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2013;21(1):23-39. Disponible en: http://press.endocrine.org/doi/10.1210/edrv.21.1.0387?url_ver=Z39.88 -2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed& .

  34. Czeizel A. Life and death Tutankhamun from human genetic aspects. Ther Hung. 1980; 28(1):40-329.

  35. Kozma C. Dwarfs in ancient Egypt.Am J Med Genet A. 2006;140(4):303-11. Disponible en: http://www.academia.dk/MedHist/Biografier/PDF/DwarfsInAncientEgypt.pdf .

  36. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R et al. International Nosology and Classification of Constitutional Disorders of Bone (2001). Am J Med Genet. A. 2011 May; 155(5): 943968. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781/ .

  37. List of people with dwarfism. Project Gutenberg Self-publishing press. Disponible en: http://www.gutenberg.us/article/WHEBN0007345995 /List%20of%20people%20with%20dwarfism#cite_note-53 .

  38. Majka L, Gozdzik J, Witt M. Cystic fibrosis a probable cause of Frédéric Chopins suffering and death. J. Appl. Genet. 2003; 44(1): 77-84. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/12590184 .

  39. Young P, Bernaciak JM, Bruetman JE, Finn BC, Miranda MC. Frederic Chopin (1810-1849), y su enfermedad. Rev Med Chil. 2014;142(4):529-35. Disponible en: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000400018 .

  40. 40. Garcia Garcia A. Petrucciani, un grande de pequeña estatura. [monografía en Internet], Infomed especialidadesdes. Genética médica. Disponible en: en:http://www.sld.cu/sitios/genetica/verpost.php?blog=http://articulos.sld.cu /genetica&post_id=2860&c=4267&tipo=2&idblog=141&p=1&n=de .

  41. Morales Peralta E. El hombre perfecto. Elementos. 1994.; 21 (3): 33-35.

  42. López Espinosa JA. Ramón Zambrana. El doctor Ramón Zambrana Valdés y el repertorio económico de medicina, farmacia y ciencias naturales. Rev Cubana Salud Pública [revista en la Internet]. 1999 Jun [citado 2015 Dic 04] ; 25(1): 86-93. Disponible en: http://scieloprueba.sld.cu/scielo.php?script=sci_arttext&pid=S0864-34661999000100011&lng=es .

  43. Espinosa JA. El doctor Ramón Zambrana Valdés y el repertorio económico de medicina, farmacia y ciencias naturale. Rev. Cubana de Salud Pública 1999 [Internet] ; 25(1) Disponible en: http://scielo.sld.cu/scielo.php?pid=S0864-34661999000100011&script=sci_arttext .

  44. Herman N. Arsenio Rodríguez. All Music [Internet][citado 8 de Diciembre del 2015]. Disponible en:http://www.allmusic.com/artist/arsenio-rodr%C3%ADguez-mn0000600775/biography .

  45. Carpentier A: El reino de este mundo, Sexta Edición. México DF: Compañía General de Ediciones S.A.; 1973, P, 79.




2020     |     www.medigraphic.com