[Show abstract][Hide abstract] ABSTRACT: Timolol has been demonstrated to be efficacious in the topical treatment of superficial infantile hemangiomas (IHs). We conducted a prospective study to evaluate the short-term efficacy and safety of timolol in the treatment of superficial IH in Chinese infants. From March to November 2012, 124 patients with superficial IHs were included in the prospective study. The patients were divided into two groups: treatment (101 patients, the timolol drops were administered on the surface of the lesions three times daily, and erythromycin ointment was applied around the lesions) and observation (23 patients, without treatment). The results were categorized into three grades: class 1 (ineffective), class 2 (controlled growth) and class 3 (promoted regression). Within one week of the initiation of timolol treatment, a number of the lesions became softer and lighter in color. Four months following the initiation of timolol treatment, the overall response was class 1 in eight patients (7.9%), class 2 in 36 patients (35.6%) and class 3 in 57 patients (56.4%). Complete tumor regression was observed in 12 patients. No adverse effects were recorded during the treatment period. Among the patients in the observation group, there were 15 class 1 patients (65.2%), seven class 2 patients (30.4%) and only one class 3 patient (4.3%). In conclusion, timolol is an effective and safe treatment for superficial IH. In addition, it may be used in the treatment of proliferative superficial IH, particularly in infants within 6 months of age.
Preview · Article · Aug 2013 · Experimental and therapeutic medicine
[Show abstract][Hide abstract] ABSTRACT: Hirschsprung disease (HSCR, Online Mendelian Inheritance in Man 142623) is a typical developmental disorder of the enteric nervous system in which ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. SOX10 gene is involved in the normal development of the enteric nervous system. Heterozygous SOX10 mutations have been identified in patients with syndromic HSCR. However, no mutations have been reported to date to be associated to isolated HSCR patient. We thus sought to investigate whether mutations in the SOX10 are associated with isolated HSCR in the Chinese population.
Polymerase chain reaction amplification and direct sequencing were used to screen 4 exons of the SOX10 gene for mutations and polymorphisms in 104 patients with sporadic HSCR and 96 ethnically matched controls in Han Chinese populations.
In this study, 4 single nucleotide polymorphisms (SNPs) were identified: SNP1: c.18C>T (GAC→GAT) in exon 2; SNP2: c.122G>T (GGC→GTC) in exon 2; SNP3: IVS2+10 (C→G) in intron 2; and SNP4: c.927T>C (CAT→CAC) in exon 4. SNP1 and SNP2 were novel described polymorphisms in the Chinese population. No SOX10 mutations were found in Han Chinese with isolated HSCR.
Our results revealed that there was no association between the 4 SNPs of the SOX10 gene and HSCR. This study showed that the SOX10 gene is unlikely to be a major HSCR gene in the Chinese Han population.
No preview · Article · Oct 2011 · Journal of Pediatric Surgery