Cornelia de Lange syndrome is a rare congenital disease,which was firstly reported on 1933.It usually causes multiple organs dysplasia.Clinical manifestations include severe growth retardation,cogni-tive impairment,characteristic facial and upper limb defects.With the rapid development of medical science,es-pecially in genetics and molecular biology,much research on the pathogenesis of Cornelia De Lange syndrome has been performed.Herein,we review the progress in this rare disease in recent years.

Taking hyperthyroidism, anti-hyperthyroidism drugs and anti-hyperthyroidism combination as the keywords, 121 litera-tures on hyperthyroidism treatment were reviewed on CNKI and VIP database, and among them, 37 ones were selected as the represent-ative references. The clinical application was reviewed and summarized. Thiourea drugs are the first choice in the clinical treatment of hyperthyroidism;however, they show obvious side effects. Therefore, the drug combination use, especially the combination of Chinese and western medicines was proposed, which could rapidly improve the symptoms and the quality of life, reduce the dosage of western medicines and adverse reactions, and consolidate the curative effect and prevent the recurrence.

OBJECTIVE:To optimize the formulation and preparation technology of Propylthiouracil(PTU)solid lipid nanopar-ticles(PTU-SLN)and to evaluate the quality of PLN-SLN. METHODS:PTU-SLN was prepared by emulsion ultrasound dispersing method. The formulation of PTU-SLN was optimized by orthogonal design with the entrapment efficacy and particle size as index, using the amount of lipid material,soybean lecithin and poloxamer 188 and ultrasonic time as factors. The quality of prepared nanoparticles was evaluated with particle size,Zeta potential,entrapment efficiency,stability and in vitro drug release rate as in-dex. RESULTS:The optimal formulation and technology was as follows as lipid material 0.6 g,soybean lecithin 1.0 g,poloxamer 188 0.8 g,ultrasonic time 10 min. The obtained PTU-SLN was round and smooth in appearance and distributed evenly in particle size with average particle size of 93.5 nm,Zeta potential of -30.8 mV and average entrapment efficiency of 74.9%. Prepared nanoparticles had no significant change after placing for 15 d at 4 ℃. Accumulative release rate of PTU-SLN was 56.1% at 4 hour in vitro and reached 98.4% at 24 hour. CONCLUSIONS:PTU-SLN is prepared successfully and reasonable in technology,and can reach sustained-release effects.

Objective:To study the protective effect of Mongolian medicine Bateri-7 on radiation-induced intestinal injury in mice.Methods:C57BL/6J male mice were randomly divided into control group, irradiation group and irradiation plus drug administration group, with 10 or 15 mice in each group. For irradiation group, the mice were given a single dose of 12 Gy 60Co γ-rays with total body irradiation. For drug treatment, the mice were gavaged with Bateri-7 (530 mg/kg) 7 d before irradiation until 3 d after IR. At 6 h and 24 h after irradiation, the Tunel positive cells in intestine were detected immunohistochemically. At 3.5 d after irradiation, the structure of intestinal villi was observed by HE staining, and the BrdU and Ki67 positive cells were detected immunohistochemically. The expression levels of IL-6, TNF-α and Cxcl-5 were detected by qPCR. The FITC-dextran in peripheral blood was also determined. Results:The survival of irradiated mice was significantly increased by Bateri-7 ( χ2= 5.84, P < 0.05), but there was no significant difference in weight between two groups ( P > 0.05). The villi length of small intestine in the irradiation plus drug group was significantly longer than that in the irradiation group ( t = 20.24, P < 0.05), and there was no significant difference in the depth of intestinal crypt between two groups ( P > 0.05). At 6 and 24 h after irradiation, the number of Tunel positive cells in intestinal crypts in the irradiation plus drug group was significantly reduced in comparison with the irradiation group ( t = 3.52, 2.90, P < 0.05). At 3.5 d after irradiation, the level of FITC-dextran in serum and the expressions of IL-6, TNF-α and Cxcl-5 in small intestine of mice in the irradiation plus drug group were significantly lower than those in the irradiation group, respectively( t = 6.92, 7.01, 7.18, 13.16, P < 0.05). The number of BrdU and Ki67 positive cells in the crypt of mice in the irradiation plus drug group was higher than that of the irradiation group ( t = 3.91, 2.57, P < 0.05). Conclusions:Mongolian medicine Bateri-7 can effectively alleviate irradiation-induced intestinal injury of mice, which may have a good preventive and therapeutic effect on radiation enteritis.