目的 探讨CBL教学法在消化内科住院医师规范化培训教学中的应用.方法 选取在该科参加住院医师规范化培训的108名医师为研究主体,均为自愿参加此项研究,入科时随机分组.在观察组实施CBL教学法,在对照组实施普通教学法.对比两组医师理论及病案分析考试成绩及两组医师对教学的满意度.结果 观察组医师理论成绩明显高于对照组,差异有统计学意义(t=11.04,P=0.003),主要在判断题、多项选择题有差异,即两组医师在临床判断上有差异.病案分析部分观察组医师明显高于对照组,差异有统计学意义(t=12.05,P=0.002),主要体现在鉴别诊断上有差异.观察组医师教学方法满意度明显高于对照组,差异有统计学意义(χ2=23.04,P=0.000).结论 CBL教学法在消化内科住院医师规范化培训教学中,利于住院医师理论知识及病例分析的掌握,利于有助于住院医师临床能力提高.

Background: Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase (TNAP) activity. The clinical presentation of HPP is highly variable, and the prognosis for the infantile form is poor. Case presentation: This study reports a male infant diagnosed with lethal perinatal HPP. His gene analysis showed two heterozygous missense variants c.406C > T (p.R136C) and c.461C > T (p.A154V). The two mutations originated separately from his parents, consistent with autosomal recessive perinatal HPP, and the c.461C > T (p.A154V) was the novel mutation. Three-level structure model provide an explanation of the two mutated alleles correlating with the lethal phenotype of our patient. Results of SIFT, PolyPhen_2, and REVEL showed two mutations were pathogenic. Conclusions: We demonstrated a case of perinatal lethal HPP caused by two heterozygous mutations, and one of which was novel. This finding will prove relevant for genetic counseling and perinatal gene testing for affected families.

目的 了解新生儿窒息并发医院感染的临床特点,为该病的预防及治疗提供依据.方法 回顾性分析128例新生儿窒息并发医院感染患儿临床资料,对医院感染部位、病原菌及耐药性、相关影响因素进行分析.结果 128例新生儿窒息并发医院感染患儿中呼吸系统感染43例(33.6％)、全身感染38例(29.7％).共培养出病原菌143株主要有肺炎克雷伯菌41株(28.7％),大肠埃希菌39株(27.3％).肺炎克雷伯菌和大肠埃希菌对β-内酰胺类抗菌药物有较高的耐药率,而对碳青霉烯类、加酶抑制剂β-内酰胺类抗菌药物比较敏感.胎龄＜37周、宫内窘迫、出生体质量＜2 500 g、住院时间≥7天、机械通气、肠外营养是医院感染发生的影响因素,除宫内窘迫外其他均为独立影响因素.结论 新生儿窒息并发医院感染主要以呼吸系统及全身感染为主,肺炎克雷伯菌、大肠埃希菌是主要致病菌且多数为多药耐药菌,对β-内酰胺类抗菌药物耐药率高,而对碳青霉烯类及加酶抑制剂的β-内酰胺类抗菌药物敏感.胎龄低(＜37周)、宫内窘迫、出生低体质量(＜2 500g)、住院时间长(≥7天)、机械通气、肠外营养为新生儿窒息并发医院感染影响因素.

目的 探讨振幅整合脑电图在早产儿脑损伤早期诊断中的临床应用价值.方法 选取40例脑损伤早产儿(27～36周)作为研究组,另选同期住院的50例无脑损伤早产儿(27～36周)作为对照组.两组早产儿出生6 h内均进行振幅整合脑电图描记,并采用aEEG评分系统分析连续性电压评估、睡眠觉醒周期及aEEG背景活动异常率.结果 研究组早产儿aEEG图形校正总分为(0.9±1.1)分,对照组早产儿aEEG图形校正总分为(0.2±1.3)分,研究组aEEG图形校正总分明显高于对照组,差异具有统计学意义(P<0.05).结论 振幅整合脑电图监测可准确直观地观察到早产儿脑功能的变化情况,这一检测方法对早产儿脑损伤的早期诊断具有较高的临床应用价值,值得临床广泛应用.

<正>1病例报告女,生后35天。主因皮肤黄染31 d、气促4 d、尿少1 d入院。患儿为孕1产1,孕足月儿,行剖宫产分娩,否认胎膜早破史及宫内窘迫史,羊水清,胎盘、脐带未见异常,否认生后窒息史,出生体重3.15 kg。患儿母亲孕期系统产前检查,无妊娠合并症。患儿父亲、母亲体健,无家族遗传、代谢病史,无肝炎、结核