Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online

We have designed a study aimed at identifying the genetic mutations responsible for cystic fibrosis (CF) in the population of the United Arab Emirates. The prevalence of CF in the UAE is at least 1/15,000 live births and the disease is associated with very severe clinical presentations. We have investigated 17 unrelated families. Ten UAE national families were of Bedouin descent: all 15 CF patients, who presented with very severe forms of the disease, were homozygous for a S549R mutation due to a T->G transversion at nucleotide postion 1779. Amongst a distinct population of Baluch origin, CF patients from 6 out of 7 affected families were DF508 homozyotes. Hence, the unique distribution of CF mutations in the United Arab Emirates--two mutations, S549R and DF508, characterize so far 94% of CF families--should allow efficient organizing and delivering of CF carrier screening programmes on the country's relatively limited population size.     

应用简明健康测量量表评估美沙酮维持治疗患者生活质量

目的:对比接受与未接近美沙酮维持治疗的海洛因依赖者健康相关生活质量。方法:①选择2004-04/05在云南省个旧市美沙酮维持治疗门诊接受美沙酮维持治疗的海洛因依赖者作为治疗组(95例)。纳入标准:符合美国精神障碍诊断与统计手册第4版中海洛因依赖诊断标准;至2004-11时尚未脱失;采用滚雪球方法,于2004-11在该市社区内寻找从未接受过美沙酮维持治疗的海洛因依赖者作为对照组(37例),均符合美国精神障碍诊断与统计手册第4版中海洛因依赖诊断标准。纳入对象均对调查项目知情同意。②根据患者的日常海洛因使用量、使用方式、末次使用量决定美沙酮首次剂量,一般<40mg;导入期则根据患者的戒断症状控制情况逐渐加量。维持期的剂量差异较大,5～160mg/d,多超过60mg/d。同时根据治疗组患者的需求,每月定期开展心理干预小组活动。对照组患者未接受美沙酮维持治疗或任何戒毒措施、干预活动,评估期间时仍然在使用海洛因。③治疗组于治疗刚开始及治疗8个月后,对照组于治疗组治疗8个月后同期采用简明健康测量量表对两组对象进行健康相关生活质量评估。该量表包括躯体功能、躯体角色、肌体疼痛、总健康状况、生命力、社会功能、情绪角色及心理健康8个维度,评分越高表明生活质量越好。④计量和计数资料差异比较分别采用t检验和χ2检验。结果:治疗组95例和对照组37例均进入结果分析。参加美沙酮维持治疗8个月后,治疗组简明健康测量量表中6个维度躯体角色、总健康状况、生命力、社会功能、情绪角色及心理健康的评分分别为(6.59±1.48),(15.54±3.97),(16.20±3.91),(8.39±2.29),(4.72±1.17),(20.19±2.68)分,高于治疗刚开始时和对照组[(5.54±1.51),(13.37±3.58),(13.19±3.81),(7.17±2.21),(3.94±1.11),(17.05±4.24)分;(5.43±1.29),(11.83±3.84),(12.89±3.79),(6.71±2.12),(4.06±1.08),(15.77±4.45)分,t=3.02～7.03,P<0.01];躯体功能得分也较治疗前有了明显提高[(27.16±3.24),(26.48±3.34)分,t=1.96,P<0.05],但与对照组比较,差异不明显[(26.31±2.78)分,P>0.05]。治疗组肌体疼痛评分与治疗刚开始时和对照组相近(P>0.05)。结论:美沙酮维持治疗可有效提高海洛因依赖者的健康相关生活质量,但短期的维持治疗对肌体疼痛改善不明显。     

Necrotizing fasciitis: a deadly infection

Necrotizing fasciitis (NF) is a life-threatening condition, consisting of a soft-tissue infection with rapidly progressive, widespread fascial necrosis. NF may be caused by a wide variety of microbes. Indeed, NF may be an infection of one species of bacteria or may be polymicrobial. Prompt diagnosis and treatment are essential. Surgical debridement and antibiotic therapy are the primary treatment options.