SLC25A15基因复合杂合突变致HHH综合征1例报告并文献复习

目的探讨高鸟氨酸血症-高氨血症-高同型瓜氨酸尿症(HHH综合征)的临床及基因突变特点。方法回顾分析1例HHH综合征患儿的临床资料,并复习文献。结果患儿,女,2岁2个月,平素厌食高蛋白食物。生后反应弱,独走后出现共济失调,感染后加重。实验室检查示高氨血症、转氨酶升高及凝血异常。头颅MRI示半卵圆中心白质容积减少。基因检测示患儿携带SLC25A15基因c.190TC(p.Y64H)及c.278GA(p.R93Q)复合杂合突变,分别来自表型正常的父母。结论 HHH综合征临床表现以神经系统及肝脏受累为主要,需与其他尿素循环障碍及肝脏疾病相鉴别。     

丹皮酚软膏治疗老年人皮肤瘙痒症的临床和实验研究

目的观察丹皮酚软膏治疗老年皮肤瘙痒症的疗效,并通过动物实验,对比丹皮酚软膏和氢化可的松软膏的抗过敏止痒效果。方法将80例老年皮肤瘙痒症患者按1︰1的比例随机分为治疗组40例和对照组40例,治疗组用润燥止痒胶囊配合丹皮酚软膏治疗,对照组用润燥止痒胶囊配合氢化可的松软膏,均外用3周后观察临床疗效。以4氨基吡啶诱发小鼠舔体反应,观察丹皮酚软膏对舔体反应的影响;以组胺使豚鼠皮肤瘙痒,观察丹皮酚软膏对豚鼠致痒阈的影响。低分子右旋糖酐诱发小鼠皮肤瘙痒,观察丹皮酚软膏的止痒作用。结果对比丹皮酚软膏和氢化可的松软膏的临床疗效,治疗组有效率为100%;对照组有效率为92.5%,两组差异无统计学意义(P﹥0.05)。丹皮酚软膏显著抑制4-氨基吡啶诱发的小鼠舔体反应;显著提高豚鼠对组胺的致痒阈;显著抑制低分子右旋糖酐诱发的小鼠皮肤瘙痒。结论丹皮酚软膏对多种动物模型有止痒作用,丹皮酚软膏治疗老年人皮肤瘙痒症效果好。     

Wound healing effect of flavonoid rich fraction and luteolin isolated from Martynia annua Linn. on streptozotocin induced diabetic rats

ObjectiveTo evaluate wound healing potential of flavonoid fractions of Martynia annua (M. annua) Linn. leaves in diabetic rats on the basis of folkloric information and preliminary study.MethodsThe flavonoid compound luteolin and apigenin were isolated from dried leaves of plant by column chromatography. The two concentrations (0.2% and 0.5% w/w) of luteolin and flavonoid fraction were selected for topically applied as ointment on diabetic wound. The Povidone Iodine Ointment USP was used as a reference. On 18th days, protein content, hydroxyproline and antioxidants (SOD, CAT and GSH) level in granuloma tissues were determined.ResultsThe results showed that, percent wound contraction were observed significantly (P<0.01) greater in MAF fraction and 0.5% w/w of luteolin treatment groups. Presence of matured collagen fibres and fibroblasts with better angiogenesis were observed in histopathological studies.ConclusionsIn conclusion, our findings suggest that flavonoid fraction (MAF) and luteolin (0.5% w/w) may have potential benefit in enhancing wound healing in diabetic condition, possibly due to free-radical scavenging activity of plant.     

银离子愈邦敷料联合银锌霜治疗重症剥脱性药疹疗效评价

目的:评价新型敷料银离子愈邦联合银锌霜应用于重症药疹大面积剥脱性创面愈合的疗效。方法:42例患者随机分为观察组与对照组,每组各21例。观察组采用愈邦与银锌霜,对照组采用油纱与金霉素眼膏。观察创面愈合时间、患者疼痛度,换药次数。结果:观察组创面愈合时间平均10.10±2.88天,对照组平均13.44+3.16天,差异有极显著统计学意义(P0.01)。观察组换药时疼痛总VAS评分为2.73+1.15分,对照组3.58+2.11分,差异有极显著统计学意义(P0.01);观察组换药次数平均2.47±1.15次,对照组平均4.45±1.22次,差异有极显著统计学意义(P0.01)。结论:愈邦敷料用于重症药疹大面积剥脱性皮损换药疗效肯定。