RESUMO
It is a remembrance about the main surgeons who have made that surgery have reached levels of excellence in Mexico, which worked mainly during the 1st half of the 20th century, although some of them are out of this period, the surgical specialties in which they stood out, as well as in which institutions they worked, and some of the surgical techniques recommended by them. Some great doctors who were their students are mentioned.
Se hace un recuerdo de los principales cirujanos que han hecho que la cirugía en México haya alcanzado niveles de excelencia, que trabajaron principalmente en la primera mitad del siglo XX (aunque algunos de ellos se salgan de este periodo), las especialidades quirúrgicas en que destacaron, así como en qué instituciones trabajaron, y algunas de las técnicas quirúrgicas preconizadas por ellos. Se mencionan algunos grandes médicos que fueron sus alumnos.
Assuntos
Cirurgia Geral/história , Especialidades Cirúrgicas/história , Cirurgiões/história , História do Século XX , Humanos , México , Especialidades Cirúrgicas/métodosRESUMO
Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by random chromosome gains and losses. Mutations in BUB1B and CEP57 genes have been involved in MVA. Here we report on a male child with MVA due to c.915_925dupCAATGTTCAGC mutation in the CEP57 gene. Our patient was homozygous for this mutation and he is the first case with rhizomelic shortening of both the upper and lower limbs and mild respiratory insufficiency due to a narrow thorax. It is also the second MVA Mexican family reported with this mutation that lives in the northwestern region of Mexico, suggesting a "local founding effect". Additional cases are needed to better understand the MVA genotype-phenotype relationship.
