RESUMO
OBJECTIVE: To develop and implement a pilot educational program on genetic testing at the Tokai University School of Medicine with a public engagement approach through a local junior-high school outreach program. METHODS: Seven medical students underwent 2 weeks of education and training to act as instructors for a one-day course on genetic testing for local junior-high school students. The one-day course comprised a lecture and an experimental lesson. The variation of UDP-glucuronosyltransferase 1A1 gene (UGT1A1) was selected as the teaching topic. A commercially available cultured human leukemia cell line was used as the source of human genomic DNA to circumvent the ethical concerns associated with obtaining samples from participants for genomic analysis. The medical students received instructions on the basics of conducting laboratory work and handling the equipment and reagents during the 2-week training. RESULTS: The seven medical students completed the 2-week training. They then taught PCR and restriction enzyme experiments and the meaning of the results to junior-high school students. CONCLUSION: A pilot educational program on genetic testing with a local community outreach approach was successfully developed and implemented.
Assuntos
Testes Genéticos , Estudantes de Medicina , Projetos Piloto , Testes Genéticos/métodos , Humanos , Relações Comunidade-Instituição , Educação Médica/métodosRESUMO
Although the symptoms of systemic lupus erythematosus (SLE) worsen during pregnancy, few previous studies have reported lupus enteritis in pregnant women with SLE. A 29-year-old pregnant Japanese woman presented with acute abdomen. Six years before pain onset, she developed pure red cell aplasia and tested positive for anti-Ro (SS-A) and anti-La (SS-B) antibodies. Anti-DNA antibodies were detected two and a half years later. The patient remained asymptomatic until she developed acute abdomen. A mild increase in anti-DNA antibody levels and a mild decrease in complement levels were observed, and abdominal ultrasound and magnetic resonance imaging revealed the presence of large-volume ascites and edematous thickening of the small intestinal wall. These findings established the diagnosis of lupus enteritis. Her condition improved after treatment with prednisolone 50 mg/day, and she delivered a female infant weighing approximately 1810 g at 37 weeks of gestation. Our study suggests that lupus enteritis should be suspected in female patients with autoimmune disease who develop acute abdomen during pregnancy, and that magnetic resonance imaging is useful in its diagnosis.