[A review of gene therapy for Duchenne muscular dystrophy].

Duchenne muscular dystrophy (DMD) is an X-linked recessive hereditary disease caused by mutations in the DMD gene that encodes dystrophin. It is characterized by progressive muscle weakness and degeneration of skeletal muscle and myocardium due to the absence of dystrophin. The disease often occurs at the age of 2-5 years, and most children may die of heart failure or respiratory insufficiency at the age of around 20 years. At present, supportive therapy is often used in clinical practice to improve symptoms, but this cannot improve the outcome of this disease. The development of gene therapy brings new hope to the cure of this disease. This article summarizes gene replacement therapy for DMD, including the research advances in DMD gene transduction technology mediated by adeno-associated virus, utrophin protein upregulation technology, and clustered regularly interspaced short palindromic repeat gene editing technology, and reviews the recommendations to solve the issues of adeno-associated viral load, long-term effective expression of transgenic products, and utrophin protein expression, in order to provide a reference for further research.

Ileum Histoplasmosis Mimicking Intestinal Tuberculosis and Crohn's Disease.

Gastrointestinal histoplasmosis (GIH) without pulmonary and bone marrow involvement is very rare worldwide. It can be misdiagnosed as intestinal tuberculosis or Crohn's disease. There are just few case reports of GIH in patients with a positive HIV antibody test. Here, we report a patient who presented to our hospital with repeated intestinal obstruction. The suspicious diagnosis was intestinal tuberculosis or Crohn's disease due to unspecific clinical manifestations and radiologic images. Our patient's HIV antibody test was negative. She had no medical prescriptions. Therefore, our differential diagnosis needed to include ileum histoplasmosis besides intestinal lymphoma, intestinal tuberculosis, and Crohn's disease. Finally, the patient was diagnosed with ileum histoplasmosis due to surgical resection. It is important to be aware of potential infectious diseases, such as ileum histoplasmosis, when making a differential diagnosis. Moreover, surgical resection might be the final approach for small-intestine stricture with fibrosis.