Overdose of tricyclic antidepressants associated with absent brain-stem reflexes.

Because of the lack of an effective vaccine and the difficulty in implementing any effective control measures, physicians and public health practitioners have paid little attention to understanding the epidemiologic features of chickenpox. No data on the incidence rate in Canada are available for 1959-85. However, Ontario data suggest an overall decrease in the annual rate during the 1960s and a stable rate since the mid-1970s. High incidence rates are expected among children 5 to 9 years of age because of their susceptibility and their greater exposure in school. Low incidence rates among older age groups are expected, because most of these people have already been exposed to the virus. The disease is more serious among infants than among other children. The risk of death from chickenpox is also highest among infants. More patient-specific information and improved collection of incidence data are required to measure any impact from future control procedures, including the use of vaccines currently being developed.     

17α-羟化酶缺陷症临床及分子遗传学研究

目的探讨发生在17α-羟化酶缺陷症患者的罕见股骨颈骨折的诊治方法。方法详细收集患者临床资料、进行全面的体检和辅助检查。采用激素替代治疗并对股骨颈骨折进行手术治疗。通过分子遗传学研究明确诊断并探究其基因基础。结果病史、体检和辅助检查支持17α-羟化酶缺陷症的诊断。对移位的股骨颈骨折在椎管内麻醉下施行闭合复位空心钉内固定术,恢复患肢功能。分子遗传学研究发现该患者为CYP17A1基因纯合突变,第6号外显子6436—6438（TAC→AA）导致Y329K,418X。导致形成缺乏酶活性中心的截短蛋白。结论发生在17α-羟化酶缺陷症患者的股骨颈骨折可以通过手术治疗恢复患肢功能。CYP17A1基因第6号外显子TAC329AA突变在我国有一定的种族特异性。     

两例17α-羟化酶/17,20碳链裂解酶缺陷症分子遗传学研究

目的从分子遗传学方面初步探讨两例17α-羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的突变性质。方法用患者外周血白细胞DNA进行CYP17A1基因的8个外显子PCR扩增,并通过序列测定确定突变位置和性质。结果两患者均为CYP17A1基因突变的遗传复合体。病例1为Y329K,418X/P428L,病例2为Y329K,418X/P409R,Y329K,418X为插入缺失突变(TAC329AA),导致移码突变,在418位产生终止密码提前终止了蛋白质翻译。结论通过CYP17A1基因突变分析,确诊了两例17OHD患者。     

IL-17多态性与慢性萎缩性胃炎的相关性研究

目的探讨白细胞介素-17A,-17F(IL-17A,-17F)基因多态性与慢性萎缩性胃炎(chronic atrophic gastritis,CAG)的相关性。方法采用病例-对照研究方法,收集经组织学确诊的慢性萎缩性胃炎患者129例和健康对照人群223例,收集外周血标本,提取DNA,运用TaqManMGB探针方法进行多态性检测。同时所有样本经组织快速尿素酶检测(RUT)和血清酶联免疫吸附法(ELISA)抗Hp-IgG抗体检测,以测定人群幽门螺杆菌(Helicobater pylori,Hp)感染率。结果IL-17A(rs2275913,G-197A)、IL-17F(rs76378,7488T/C)位点的基因型和等位分布在慢性萎缩性胃炎组和健康献血员正常对照组中差异均无统计学意义(P>0.05)。IL-17F(rs766748,6400A/G)在慢性萎缩性胃炎组中的等位频率显著高于正常对照组(P=0.004)。与未携带有IL-17F 6400A/GA等位的个体相比,携带有IL-17F 6400A/GA等位的个体显著的增加了慢性萎缩性胃炎的易感性。经非条件Logistic回归校正年龄、性别、Hp感染等因素后,在...     

10例17α羟化酶/17,20碳链裂解酶缺陷症临床和遗传学研究

目的 回顾10例17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的资料,分析17OHD的临床特征和分子遗传学特点.方法 收集患者临床、基础激素测定和影像学检查资料,对患者及其直系亲属的基因型采用PCR扩增产物直接测序方法明确;对于杂合突变,采用亚克隆方法进一步明确.结果 10例患者均存在第二性征不发育、高血压、低血钾;基础激素测定示睾酮、雌二醇、17羟孕酮、皮质醇明显低于正常,而促性腺激素和促肾上腺皮质激素反馈性增高,双侧肾上腺增生.基因诊断共检测到5种基因型;替代和缺失的复合突变占80%;其中D487_F489del 3个氨基酸的缺失累及到了4个家系7例患者(70%),共有45%的等位基因受累,是频率最高的突变.结论 对于第二性征不发育的患者,应注意该病的鉴别诊断;D487_F489del是中国人的17OHD最常见的突变类型.     

10例17α羟化酶/17,20碳链裂解酶缺陷症临床和遗传学研究

目的回顾10例17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)患者的资料,分析17OHD的临床特征和分子遗传学特点。方法收集患者临床、基础激素测定和影像学检查资料,对患者及其直系亲属的基因型采用PCR扩增产物直接测序方法明确;对于杂合突变,采用亚克隆方法进一步明确。结果10例患者均存在第二性征不发育、高血压、低血钾;基础激素测定示睾酮、雌二醇、17羟孕酮、皮质醇明显低于正常,而促性腺激素和促肾上腺皮质激素反馈性增高,双侧肾上腺增生。基因诊断共检测到5种基因型;替代和缺失的复合突变占80%;其中D487_F489del3个氨基酸的缺失累及到了4个家系7例患者(70%),共有45%的等位基因受累,是频率最高的突变。结论对于第二性征不发育的患者,应注意该病的鉴别诊断;D487_F489del是中国人的17OHD最常见的突变类型。     

17β-羟甾类固醇脱氢酶Ⅱ在异位子宫内膜的表达缺陷及其意义

目的 研究子宫内膜异位症的异位内膜、在位内膜17β-羟甾类固醇脱氢酶Ⅱ(17β-HSDⅡ)的表达,探讨其在子宫内膜异位症发病中的意义. 方法 采用 RT-PCR检测 67 例子宫内膜异位症患者的异位子宫内膜、32例在位内膜组织17β-HSDⅡmRNA的表达,并与35例对照组正常子宫内膜比较. 结果 (1)正常子宫内膜自增生晚期始有17β-HSDⅡ mRNA微量表达,分泌期逐渐增高并于分泌晚期达到高峰;在位内膜的表达趋势与正常子宫内膜一致,但强度低于正常内膜(P<0.01);(2)异位内膜未检出17β-HSDⅡ mRNA. 结论 子宫内膜异位症存在17β-HSDⅡmRNA表达缺陷,导致异位内膜局部雌激素代谢障碍.持续的雌激素微环境改变,促进异位内膜生长.     

17α羟化酶/17,20碳链裂解酶缺陷症研究进展

17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)是先天性肾上腺增生的少见类型.临床主要表现为低肾素性高血压、低血钾,女性性幼稚、原发性闭经及男性假两性畸形.本文将就17OHD发生的病理生理和分子遗传学机制,以及部分少见类型的临床特点进行综述.     

17例中老年皮肌炎患者伴发恶性肿瘤的临床分析

目的研究皮肌炎伴发恶性肿瘤的临床相关因素。方法对近3年来收治的17例皮肌炎合并恶性肿瘤患者的临床资料进行回顾性分析,并将其与45例不合并恶性肿瘤的皮肌炎患者进行比较。结果皮肌炎合并恶性肿瘤发生率为27.4%,肿瘤类型多样以胃癌、卵巢肿瘤、食道癌为主。伴发恶性肿瘤的皮肌炎患者血沉（ESR）、肌酸磷酸激酶（CK）、乳酸脱氢酶（LDH）及-羟丁酸脱氢酶（-HBDH）的水平较不伴发恶性肿瘤者高,肿瘤标志物阳性率较不伴恶性肿瘤患者高。结论年龄〉40岁、ESR、CK、LDH、-HBDH及肿瘤标志物等升高为皮肌炎伴发恶性肿瘤的临床相关因素。     

Sputum interleukin-17 is increased and associated with airway neutrophilia in patients with severe asthma

Asthma is a chronic inflammatory airway disease characterized by the involvement of many cells( including eosinophils, mast cells, T cells,neutrophils and airway epithelial cells ) and their cellular components. 1 While airway eosinophilic inflammation is considered as a characteristic ofasthma, our previous reports and other recent studies have demonstrated that neutrophils may play important roles in airway inflammation,     

Sputum interleukin-17 is increased and associated with airway neutrophilia in patients with severe asthma

Asthma is a chronic inflammatory airway disease characterized by the involvement of many cells (including eosinophils, mast cells, T cells, neutrophils and airway epithelial cells) and their cellular components.1 While airway eosinophilic inflammation is considered as a characteristic of asthma, our previous reports2,3 and other recent studies4,5 have demonstrated that neutrophils may play important roles in airway inflammation, or even in airway remodeling, particularly in severe asthma. The mechanisms underlying the neutrophil accumulation in asthmatic airway remain to be elucidated. Interleukin-8 (IL-8) is a potent chemotactic factor for neutrophils, and was demonstrated to be increased in asthmatic airways.6,7 More recent studies have shown that T-cell derived IL-17 can accumulate neutrophils via a IL-8 dependent pathway.8,9 Whether IL-17/IL-8 mechanism is involved in airway inflammation in severe asthma is not clear.     

脾虚和肾虚雌性大鼠生育能力的实验观察

为系统观察脾虚和肾虚雌性ＳＤ大鼠的生育能力，将大鼠随机分为：脾虚组、脾虚复健组、肾虚组、肾虚复健组、正常组。脾虚组和肾虚组分别按常规方法用利血平和羟基脲制成脾虚模型和肾虚模型。虚证动物模型出现与人类相似的症状：动情周期紊乱，甚至消失；生殖器官萎缩；血清卵泡刺激素（ＦＳＨ）、雌二醇（Ｅ２）水平下降；子宫腺体数目减少，卵巢次级和成熟卵泡数减少，生育能力下降。而肾虚大鼠上述变化更显著。用四群子喂饲脾虚模