Objective: To investigate the safety and efficacy of pingyangmycin (bleomycin A5) sclerotherapy for early peripheral arteriovenous malformations (AVM). Methods: Thirteen cases of early-stage [Schobinger clinical stage (Ⅰ/Ⅱ)] peripheral AVM patients (11 stage Ⅰ and 2 stage Ⅱ patients) aged between 3 months and 51 years were selected between January 2012 and May 2015. Pingyangmycin sclerotherapy injections were administered with B-scan ultrasonography or digital subtraction angiography positioning. All patients underwent relevant supplementary examinations before and after the procedure, and clinical evaluation was performed based on the improvement of the clinical symptoms of the patient and re-examination of lesion by imaging. Results: A total of 88 injections were administered to the 13 patients with an average of 6.7 injections per patient, 3-6 years of follow-up. Based on clinical evaluation, 7 patients were generally cured, 3 patients had significant improvement, 2 patients had partial improvement, and 1 patient had no improvement. Seven patients had different levels of postoperative swelling that resolved on its own. No serious complications occurred. Conclusions Pingyangmycin sclerotherapy for treatment of early peripheral AVM was effective and had few complications. It can control further progression of pathological changes.

OBJECTIVE: To assess the value of high-throughput sequencing for the detection of thalassemia-associated variants in ethnic Li minority areas of Hainan, China. METHODS: In Baoting Li and Miao Autonomous County of Hainan Province, 1842 middle school students were randomly selected as the subjects, which included 1249 ethnic Lis, 454 ethnic Hans, and 139 individuals from other ethnic minorities. With DNA extracted from peripheral blood samples, gap-PCR combined with high-throughput sequencing were carried out to detect potential variants of the globin genes. RESULTS: In total 22 α-thalassemia genotypes, 5β-thalassemia genotypes, and 21 α-composite β-thalassemia genotypes were detected. The carrier rates for ethnic Li, ethnic Han and other ethnic minorities were 78.14%, 24.01%, and 28.06%, respectively. In addition, 22 fusion genes, 8 variants leading to abnormal hemoglobin, and 10 rare mutations were identified. CONCLUSION High-throughput sequencing can detect a wide range of genetic variants associated with thalassemia in the ethnic Li minority areas and has played an important role for the identification of fusion genes, variants underlying hemoglobin anomalies and rare mutations.
Humans ; alpha-Thalassemia/genetics* ; Genotype ; Ethnicity/genetics* ; Mutation ; High-Throughput Nucleotide Sequencing ; China ; beta-Thalassemia/genetics*