X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling

X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, IL-15, and IL-21. A 13-month-old boy with recurrent infections who had reduced serum immunoglobulin levels and decreased numbers of CD3, CD16/56 cells was evaluated for gamma c chain gene mutation and protein expression. The patient had a C-to-T point mutation at nucleotide position 690, one of the hot spots, resulting in a single amino acid substitution of cysteine for arginine (R226C), as determined by direct sequencing and PCR-RFLP. The patient's mother was a heterozygous carrier. Percutaneous umbilical cord blood sampling was performed at the 6-month of gestation in a subsequent pregnancy. As the immunophenotype of the fetus showed an identical pattern, the pregnancy was terminated and genetic analysis of the abortus confirmed recurrence. This is the first report of the molecular diagnosis of X-SCID in Korea. Genetic analysis of the gamma c chain gene is useful for definite diagnosis and genetic counseling for X-SCID.     

7例SARS患者治疗的临床研究

目的　进行严重急性呼吸综合征 (SARS)的临床研究。方法　对 2 0 0 4年 4月 2 2日在地坛医院收治的 7例确诊SARS患者进行回顾性分析。结果　 7例确诊SARS患者 ,男性 2例、女性 5例 ,年龄 2 0～ 4 9岁 ,平均年龄为 (35 3± 11 3)岁。临床症状主要表现为发热、咳嗽、不同程度的呼吸困难、全身不适、恶心、呕吐等 ,肺部可闻及湿音 ,可伴有肺外损伤。临床治疗中采用综合治疗原则 ,包括氧疗 ;小剂量、短期应用甲泼尼龙 ,剂量为每天 1～ 2mg kg;及时应用呼吸机 ;必要的心理干预及支持治疗等 ,患者均好转。结论　合理应用糖皮质激素 ,及时使用呼吸机是SARS治疗的关键。     

SARS患者血清IL-8、IL-12和TGF-β1的检测及意义

目的 :探讨SARS患者血清IL 8、IL 12和TGF β1在SARS冠状病毒感染致病中的作用。 方法 :应用酶联免疫吸附法 (ELISA)测定广州地区 2 8例SARS冠状病毒感染患者双份血清IL 8、IL 12和TGF β1的水平。实验数据采用两样本均数t检验法。结果 :2 8例SARS冠状病毒感染者血清IL 8水平、病程第 2周IL 12水平比正常健康对照组明显降低 (P <0 0 5 )。SARS冠状病毒感染者血清TGF β1水平与对照组比较无明显差异 (P >0 0 5 )。 结论 :IL 8和IL 12在SARS冠状病毒的致病与免疫过程中可能起降低细胞免疫功能作用     

The VO2 response to exhaustive square wave exercise: influence of exercise intensity and mode

We investigated the oxygen uptake (O₂) response to exhaustive square wave exercise of approximately 2, 5 and 8 min duration in cycling and running. Nine males completed a ramp test and three square wave tests on a motorised treadmill and the same four tests on a cycle ergometer, throughout which gas exchange was assessed (Douglas bag method). The peak O₂ from the ramp test was higher for running than for cycling [mean (SD): 58.4 (2.8) vs. 55.9 (3.7) ml.kg^–1.min^–1; P=0.04]. However O_2max (defined as the highest O₂ achieved in any of the four tests) did not differ between running and cycling [60.0 (2.9) vs. 58.5 (3.3) ml.kg^–1.min^–1; P=0.15]. The peak O₂ was similar (P>0.1) for the 5 and 8 min square wave tests [98.5 (1.8) and 99.2 (2.3) %O_2max for running; 97.0 (4.2) and 97.5 (2.0) %O_2max for cycling] but lower (P<0.001) for the 2-min test [91.8 (2.5) and 89.9 (5.5) %O_2max for running and cycling respectively]. O₂ increased over the final two 30-s collection periods of the 2-min test for cycling [O₂=0.18 (0.15) l.min^–1; P<0.01] but not running [O₂=0.00 (0.09) l.min^–1; P=0.98]. We conclude that in the aerobically fit the peak O₂ for square wave running or cycling at an intensity severe enough to result in exhaustion in approximately 2 min is below O_2max. In running, O₂ plateaus at this sub-maximal rate.     

Efficacy and safety of anti-CD45–saporin as conditioning agent for RAG deficiency

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降低重症患者人工气道湿化不足发生率

目的降低重症患者人工气道湿化不足发生率。方法开展品管圈活动,通过医护双方合作,优化气道管理团队,完善人工气道湿化评估方案,改良气道湿化装置,增加气道湿化途径,实行复合序贯式湿化-排痰护理管理模式等,实现了气道湿化、辅助排痰、气道廓清一体化。结果重症患者人工气道湿化不足发生率从28.57%降低至11.26%,目标达标率为100.58%,进步率为60.59%。结论通过开展品管圈活动,规范了重症患者人工气道湿化方案,降低了气道相关并发症发生率,有效改善了患者治疗结局,提升了医疗质量。     

降低重型胸部损伤患者肠内营养喂养不耐受发生率

目的降低重型胸部损伤患者肠内营养喂养不耐受发生率。方法成立品管圈小组,针对腹胀、反流或呕吐、腹泻三大改善重点展开原因分析,从多样化培训、6S管理、风险评估等方面进行针对性改进。结果重型胸部损伤患者肠内营养喂养不耐受发生率由63.01%降低至20.55%。结论肠内营养喂养不耐受是重症患者营养实施过程中的常见问题,通过品管圈活动,建立了科学的评估体系和规范的干预措施,改善了重型胸部损伤患者肠内营养喂养不耐受情况,确保了患者安全。     

山东省发热伴血小板减少综合征发病危险因素分析

目的 探讨影响山东省发热伴血小板减少综合征（SFTS）发病的危险因素,为科学防制该病提供依据。方法 应用1∶2匹配的病例对照研究方法,调查收集病例、对照的基本情况、可疑暴露因素等信息,采用单因素和多因素的配对条件logistic回归分析发病危险因素。结果 本研究共纳入374例SFTS确诊病例和748例对照。分析结果显示,有病例接触史（OR = 5.84,95%CI:1.11～30.88）、有家养动物（OR = 1.74,95%CI: 1.02～2.96）、近1个月见过蜱（OR = 5.85,95%CI: 2.73～12.53）、近2周有蜱叮咬史（OR = 29.58,95%CI: 6.70～130.60）、从事田间作业（OR = 2.63,95%CI:1.41～4.91）、住宅周围环境有杂草/农作物/菜地（OR = 3.24,95%CI:1.74～6.05）和住宅卫生条件差（OR = 2.20,95%CI:1.32～3.66）是SFTS发病的危险因素（P＜0.05）,近1个月有亲邻发病（OR = 0.01,95%CI:0～0.03）、采取防护措施（OR = 0.21,95%CI:0.10～0.46）是SFTS发病的保护因素（P＜0.05）。结论 接触病例、饲养家养动物、蜱叮咬、无防护措施的野外作业及住宅周围环境卫生较差等是影响山东省SFTS发病的危险因素。应加强重点人群SFTS健康教育和行为干预,减少危险因素暴露,以控制SFTS传播。     

基于KAP模式护理对重症急性胰腺炎患者康复的影响

目的探讨基于KAP模式护理对重症急性胰腺炎(SAP)患者康复的影响。方法选择我院2018年8月至2019年8月收治的SAP患者88例,随机分为两组各44例。对照组采用常规护理模式,观察组在对照组基础上采用基于KAP模式护理。比较两组的护理效果。结果护理后,观察组的腹痛、腹胀持续时间以及住院时间均短于对照组,RASS评分低于对照组,GCS评分高于对照组,差异有统计学意义(P<0.05)。结论基于KAP模式护理可缩短重症急性胰腺炎患者的临床症状持续时间及住院时间,改善患者的疼痛状况及生存质量。