RESUMEN
Objective To explore the clinical features of very long chain acyl-CoA dehydrogenase deifciency (VLCADD). Methods The clinical manifestation and the biochemical data of one baby girl with VLCADD were summarized and related literatures were reviewed. Results Female patient, aged 7 months, presented with recurrent vomit, haematemesis, stare, nodal tachycardia, hypoglycemia, abnormal liver function and myocardial enzyme. She died after one month due to frequent relapse together with withdrawing treatment. Conclusion VLCADD as a rare disease that cause sudden unexpected death in infant, the early diagnosis and treatment are important to patients.
RESUMEN
AIM: To set the model of rat bone marrow me se nchymal stem cells (BMMSCs) that differentiate into cardiomyocytes and observe t he connection structure between cells. METHODS: BMMSCs were isolated by adhering to culture plates and cultured in vitro to expand. Induction of BMMSCs to differentiate into cardi omyo cytes was conducted by treating the cells with 5-aza. Immunocytochemical stainin g was used to identify sarcomeric actin and intercalated disc-like structure wh en the cells were cultured for additional 1 week, 2 or 3 weeks, respectively. RESULTS: Sarcomeric actin positive cells were observed in 1 week , 2 or 3 weeks after 5-aza treatment. Some cells stained positive for connexin4 3 at 1 week and 2 weeks after 5-aza treatment, with brown pellet located disper sively around nucleus. 3 weeks after 5-aza treatment, connexin43 positive cells s howed brown pellet arranging in thready structure around nucleus, such structure could be seen between very few cells which was similar to intercalated disc-lik e structure in normal heart tissue. CONCLUSION: During the process of BMMSCs differentiating into ca rdiomyocytes, intercalated disc-like structure is gradually formed with increas e in culture time and cell density.