Desde los estudios pioneros de Juan Maria Gutierrez (1863) y Marcelino Menendez Pelayo (1911), la vida cultural de la colonia hispana en America se ha ido descubriendo paulatinamente. Nombres como Sor Juana Inds de la Cruz o Juan del Valle Caviedes se han vuelto canbnicos en los circulos acaddmicos e intelectuales. Y a partir de la famosa Antologia poetica en honor a Gdngora de Gerardo Diego (1927) el valor de Ia poesia barroca hispanoamericana ha sido reevaluado, a la par con la del Barroco espafol. Basta pensar en Dominguez Camargo, rescatado por la Antologia mencionada. Asf mismo, los estudios ya clisicos de Jose Toribio Medina (1900Medina ( , 1904, Guillermo Lohman Villena (1945), e Irving Leonard (1953, 1959, 1984, entre otros, sirvieron de punto de partida en la tarea de alumbrar la vida intelectual de la dpoca. Las justas y tomeos poeticos, el teatro, las disputas cientificas, la universidad y la iglesia como centros de la vida social en un mundo cerrado sobre si mismo, nos dan una idea de la gran riqueza cultural de todo este periodo de la historia hispanoamericana. Octavio Paz, en su estudio sobre Sor Juana Inds de la Cruz (1982) resume y expone claramente ese mundo y esa vida que constituyen, vistos en panorama, lo que puede llamarse el origen de la "Cultura Hispanoamericana".Dentro de estos estudios, sin embargo, un enorme y riquisimo campo ha quedado sin explorar. Me refiero al mundo de las teorias sobre la escritura que se produjeron durante esta epoca, caracterizada por su afhn y reflexion sobre el escribir. Ignacio Osorio Romero ha subsanado en parte este vacio al considerar los tratados retoricos escritos en la Nueva Espafia (1980, 1983). Pero el campo de la teoria poetica estA auin sin explorar, en espera de una clasificacibn o tipologia de los numerosos tratados que se escribieron y circularon en ese momento histbrico. Es claro que en un trabajo como el nuestro, de carActer introductorio, apenas puede vislumbrarse este gran corpus de escritos, a riesgo de caer en una superficial lista de obras. Lo que este ensayo pretende es ofrecer al interesado caminos que seguir en el estudio de la teoria poetica hispanoamericana durante la Colonia.En primer lugar, debemos bosquejar brevisimamente el problema general de teorias sobre Ia escritura en el Renacimiento, pues sobre este fondo se escriben todos los textos teoricos coloniales. Debemos recordar ante todo la gran influencia que Aristbteles y sus ideas poeticas y retericas ejercieron en las actitudes europeas ante el fenomeno de la escritura.La Poetica aristotelica, junto a la Episitola a los Pisones de Horacio, eran textos basicos en las discusiones teoricas del Renacimiento. Sin embargo, aceptar esta "autoridad" aristotdlica no significaba perder de vista un postulado bAsico en cualquier indagacibn cientifica: el
Background Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter syndrome is a genetic disorder that affects male individuals due to one or more extra X chromosomes, present in all cells or with mosaicism. The aneuploidy is due to either mitotic or meiotic chromosome non-disjunction. Chromosomal translocations are a group of genome abnormalities in which a region or regions of a chromosome break and are transferred to a nonhomologous chromosome or a new location in the same chromosome. Case presentation Our subject was born in Ecuador at 36 weeks of gestation by vaginal delivery. At 3 months old, the Factor VIII activity measure showed a 23.7% activity indicating a diagnosis of mild hemophilia A. At 1 year old, the karyotype showed an extra X chromosome, consistent with a diagnosis of Klinefelter syndrome, and a translocation between the long arms of chromosomes 1 and 19, at positions q25 and q13, respectively. Conclusions Klinefelter syndrome and hemophilia are a rare combination. In the present case report, the subject presents both, meaning that he has inherited one X chromosome from the father and one X chromosome from the mother. Since the father has severe hemophilia A; and the subject presents a below 40% Factor VIII activity, a skewed X inactivation is suggested. Additionally, the proband presents a translocation with the karyotype 47,XXY,t(1;19)(q25;q13). No similar report with phenotypic consequences of the translocation was found. The present report highlights the importance of a correct diagnosis, based not only on the clinical manifestations of a disease but also on its genetic aspects, identifying the value of integrated diagnostics. The subject presents three different genetic alterations, Klinefelter syndrome, hemophilia A, and a 1;19 chromosomal translocation.
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