ABSTRACT
Se describe el caso clínico de una adolescente de 12 años de edad, quien presentaba infecciones respiratorias repetidas y obstrucción bronquial, con un situs inversus, bronquiectasia y sinusitis, además de cuadros recurrentes de neumonía, bronquitis e hiperreactividad bronquial. Teniendo en cuenta estas particularidades y los resultados de los exámenes complementarios efectuados, incluidas la tomografía axial computarizada y la radiografía de tórax, se diagnosticó el síndrome de Kartagener. Por lo infrecuente de su presentación se comparten estos hallazgos con la comunidad científica en general.
The case report of a 12 year female adolescent who presented repeated breathing infections and bronchial obstruction, with a situs inversus, bronquiectasia and sinusitis is described; as well as recurrent pneumonia, bronchitis and bronchial hiperreactivity patterns. Taking into account these particularities and the complementary tests results, including the computed tomographic scan and the thorax x-ray, the Kartagener syndrome was diagnosed. Due to the uncommon of its presentation these findings are shared with the scientific community in general.
Subject(s)
Situs Inversus , Kartagener Syndrome , Secondary Care , AdolescentABSTRACT
Induced pluripotent stem (iPS) cell based on recently developed stem cell reprogramming technique holds great hope for regenerative medicine,in vitro disease modeling and drug evaluation.Recent progress on clinical hematology includes in vitro generation of hematopoietic progenitors and mature blood cells from somatic cells,iPS cells derived from chronic myeloid leukemia cells for the better understanding of the resistance mechanisms of bcr-abl inhibitor imatinib,and moreover,correction the monogenic inherited disease using gene-targeted strategies.However,whether the iPS cells can fully replace human embryonic stem cells still needs further investigation.
ABSTRACT
Because of the rapid progress in genetic research, only a small part of what is known about clinical genetics is taught in medical schools. At Nippon Medical School a clinical genetics course for fourth-year students started in October 2002. In the present study, we used a questionnaire to investigate how well second-year medical school students understand clinical genetics. The results of the questionnaire suggested that many students are confused about basic concepts in clinical genetics, such as the differences between inherited disease and diseased caused by genetic disorders and between hereditary and chromosomal disorders and also suggested that education in clinical genetics is needed in medical schools. In the United States, guidelines for teaching genetics in medical schools have been established. However, in Japan, considering the lack of consensus about medical genetics terminology, to disseminate correct knowledge about clinical genetics, the present situation of medical genetics education in medical schools must be clarified, and various other measures, such as establishing what information should be taught, should be carried out.