高血压病易感基因的研究进展

高血压病是常见病、多发病,严重危害人类的健康。已经公认,环境因素和遗传因素共同作用,导致高血压病的发病。其中遗传因素,即易感基因可能对高血压病的发生起决定性作用。近10年来,由于分子遗传学和分子生物学理论与技术的开展,对高血压病的病因从基因角度进行分析．使人们了解到高血压病的发病可能为一些易感的基因所致。易感基因是指表达产物参与血压调节的基因。1990年,Yang-Fang TL等首次从分子水平揭示了EH可能的发病机理,认为人类可能存在多种EH易感基因。1992年,Jeunemaitre等提出AGT基因与EH的关系。从此,对EH发病机制的研究逐步引向深入。因此,对易感基因的研究显然具有重要意义．本阐述高血压病易感基因的研究动态。     

脑出血后并发肺部感染的易感因素及其防治对策

目的　探讨脑出血后肺部感染的易感因素及防治对策。方法　对 92例脑出血病人的临床资料进行回顾性分析。结果　老年、昏迷、有慢性肺部疾患、血肿部位深者肺部感染率显著增高。肺部感染组预后不良率及死亡率均显著高于非感染组。结论　年龄大 ,病情重 ,有慢性肺部疾患史 ,血肿部位深者是肺部感染的易感因素。早期有效防治肺部感染对降低死亡率及预后不良率有重要意义     

甲状腺自身抗体在自身免疫性甲状腺疾病中的临床意义

自身免疫性甲状腺疾病(AITD))主要包括Graves病(GD)、桥本甲状腺炎(HT)、特发性粘液性水肿等，其诊断与鉴别诊断存在一定困难。笔者探讨了促甲状腺激素受体抗体(TRAb)、甲状腺球蛋白抗体(TgAb))及甲状腺微粒体抗体     

硒与自身免疫性甲状腺疾病

硒作为人体必需的一种微量元素,在机体中参与甲状腺激素的合成、活化及代谢,从而影响甲状腺功能.在自身免疫性甲状腺疾病(AITD)中,硒的水平低于正常值.低硒可能通过影响甲状腺的滤泡上皮细胞内多种含硒蛋白酶和(或)影响机体的免疫功能而导致AITD的发生与发展.给AITD患者补硒,为该病的治疗和预后开辟了一条新路.     

高原地区213例儿童特应性皮炎易感因素相关性分析

目的：探讨高原地区儿童特应性皮炎（Atopic Dermatitis,AD）与血清IgE、IgA及IgG抗体、外周血微量元素锌和铁测定、及外周血嗜酸性粒细胞检测。方法：我院2009年1月—2010年12月皮肤科门诊就诊的213例儿童特应性皮炎（均来自西宁及周边地区,海拔为2 261m～3 791m）与同期356例健康儿童（均来自平原地区）对照分析。结果：213例患儿中,各项因素出现的阳性率均明显高于对照组,P〈0.001。在病例组中,发现血清IgA,IgG和外周血微量元素铁和锌显著降低,而血清IgE、外周血嗜酸性粒细胞升高。另外,71.8%患儿平时存在不良洗涤习惯;213患儿中母亲有过敏病史的占78.4%,而父亲有过敏病史的占35.7%。结论：高原地区儿童特应性皮炎与血清IgE抗体增高,IgA、IgG抗体降低,外周血微量元素锌和铁缺乏及外周血嗜酸性粒细胞增高与该病有密切的关系。     

克罗恩病易感基因研究进展

克罗恩病在亚洲人群的发病率虽然远低于西方人群,但最近十余年来克罗恩病在我国的发病率却明显上升。克罗恩病（Crohn＇s disease,CD）的病因与发病机制至今还未完全明确,对于CD基因易感性的研究已成为热点,如NOD2/CARD15、DLG5、IL-12、IL-23、TNF2α、OCTN、ATG16L1等易感基因的发现与研究成果为我们在探索CD病因和治疗上提供了更多更广的思路。本文就此对CD易感基因研究进展作一综述。     

Predisposing factors in obstetrical fractures

To compare various obstetrical methods with different types of obstetrical fractures, 29 neonates with fractures were evaluated retrospectively. Plain films of skull, limbs and chest were obtained. Transfontanellar ultrasonography was performed in one case and a computed tomographic scan of the skull in two. We reviewed 12 fractures of long bones, 7 fractures of the skull, and 10 fractures of the clavicle. Ten fractures occurred during caesarean sections and 11 in vaginal delivery requiring medical assistance. Depressed skull fractures were associated with manoeuvres and the use of forceps during delivery. Fractures of the long bones were associated with caesarean section, breech delivery with assistance and low birth weight. All fractures were treated conservatively except for skull fractures with depression of more than 2 cm. Early consolidation occurred in all fractures of long bones. The long-term follow-up of all fractures but one revealed no persisting disability. The belief that obstetrical fractures occur primarily in large babies or after breech delivery is not supported by this study.     

99mTc-sestamibi thyroid uptake in euthyroid individuals and in patients with autoimmune thyroid disease

Purpose We investigated the biokinetics of ^99mTc-sestamibi in the thyroid of euthyroid volunteers (EVs) and in patients with autoimmune thyroid diseases and determined the best time interval between ^99mTc-sestamibi injection and calculation of uptake.Methods Forty EVs, 30 patients with Graves disease (GD), 15 patients with atrophic Hashimotos thyroiditis (AHT) and 15 patients with hypertrophic Hashimotos thyroiditis (HHT) underwent ^99mTc-sestamibi thyroid scintigraphy. Dynamic images were acquired for 20 min, and static images were obtained 20 min, 60 min and 120 min post injection. Five-, 20-, 60- and 120-min uptake, time to maximal uptake (T_max) and T_1/2 of tracer clearance were calculated. Thyroid hormones and antibodies were measured. ^99mTc-pertechnetate uptake was investigated in GD patients.Results T_max was approximately 5 min in all four groups. The mean T_1/2 value for EVs was similar to the GD value and lower than the HHT and AHT values. The mean (±SD) 5-min uptake was 0.13% (±0.05%) for EVs. The 5-min uptake in GD was higher than that in EVs(P<0.001) and correlated with free thyroxine (r=0.54) and with ^99mTc-pertechnetate uptake (r=0.68). Uptake in HHT was higher than that in AHT (P=0.0003) and EVs (P=0.002). Uptake in AHT was lower than uptake in EVs (P=0.0001).Conclusion Five minutes is the optimal time interval between ^99mTc-sestamibi injection and calculation of thyroid uptake. Five-minute uptake differentiates euthyroid individuals from GD patients. There is a high correlation between ^99mTc-sestamibi and ^99mTc-pertechnetate uptake in GD. The reduced ^99mTc-sestamibi uptake in AHT patients is probably due to glandular destruction and fibrosis. Inflammatory infiltrate and high mitochondrial density in thyrocytes possibly explain the increased uptake in GD and HHT.     

Predisposing factors for local recurrence after conservative treatment of breast cancer

The factors predisposing to local relapse after conservative treatment of early stage breast cancer are controversial. To determine these factors, we analysed the results obtained in a series of 512 patients consecutively treated for invasive breast carcinomas by conservative surgery and radiotherapy. All patients were treated by tumorectomy and axillary dissection, radiation therapy of 45 Gy to the whole breast with a boost of 15 Gy to the tumor area, and adjuvant medical treatment for 168 out of 187 patients. The overall 5-year and 10-year survival rates were respectively 92.5% and 79.9%. The actuarial 5-year and 10-year local control rates were respectively 91.2% and 83.6%. Local relapses occurred in 35 patients. Local relapse occurred more frequently in premenopausal patients, in patients less than 50 years-old as compared to older patients, in patients with low body-mass index (BMI), and in patients with small breast size. Local control was not significantly affected by tumor size or node involvement. With multivariate analysis, the only factor influencing local control was the body-mass index: the actuarial risk of local relapse was increased by 5.7 in patients with a BMI less than or equal to 22 as compared to patients with a BMI greater than 22 (p less than 0.02). We concluded that although certain clinical factors such as age, menopausal status, breast size and body-mass index have an influence on local control, these factors are not sufficiently discriminant to question the indication of conservative treatment. There is a need to individualize factors that could allow a better discrimination of patients with a high probability of local relapse.     

自身免疫性甲状腺疾病甲状腺细胞Bcl-2、Bax蛋白表达的研究

目的 :探讨Bcl- 2、Bax在自身免疫性甲状腺疾病 (AITD )的表达及意义。方法 :采用免疫组化S -P法检测 54例GD、41例HT及 1 0例正常甲状腺组织作对照 ,用Mias99系统定量分析。结果 :GD、HT的Bcl- 2、Bax表达增高 ,GD的Bcl- 2表达水平高于HT ,Bax表达低于HT(P <0 .0 1 ) ;GD的Bcl- 2阳性颗粒面积及积分光密度与Bax之比高于HT及正常对照 ,HT之比低于正常。结论 :甲状腺Bcl- 2、Bax异常表达 ,尤其是Bcl- 2 /Bax值失衡与AITD的病理过程密切相关。GD的Bcl- 2相对高表达所致的细胞凋亡抑制可能是GD腺体增生、功能亢进的重要因素之一 ;HT的Bax相对高表达所产生的促凋亡效应与HT滤泡破坏、功能减退有关     

Predisposing factors which are relevant for the clinical outcome after revision total knee arthroplasty

Purpose

The objective of this study was to investigate the outcome of revision total knee arthroplasty (TKA) in relation to the cause of index failure, the characteristics of the index procedure, and the elapsed time between index TKA and revision.

Methods

A retrospective review based on a prospective database was performed on 146 consecutive revision TKA’s. Variables tested were the cause of index failure; the elapsed time between the index and revision procedure; patient age at time of revision; partial or total revision of the implants; the performance of a tibial tubercle osteotomy; the presence of radiolucent lines; postoperative patellar tracking; and coronal plane alignment. Outcomes were measured with the Knee Society Knee Score (KS), Function Score (FS), and X-ray evaluation.

Results

Mean KS improved from 27.6 (SD 21.6) to 71.5 (SD 24.2) after revision (P?<?0.0001), mean FS from 27.5 (SD 22.7) to 53.3 (SD27.7), P?<?0.0001. Overall survival rate was 90% at 5?years and 85% at 10 and 14?years. The cause of index failure had no significant influence on any of the outcome parameters. Significantly, better outcomes were noted for partial revisions and for revisions in older patients. Early revisions (<2?years) were mostly performed for infection and instability, whereas late revisions (>2?years) were mostly performed for polyethylene wear and loosening. The survival rate for late revisions was significantly better than for early revisions (P?=?0.002).

Conclusion

Revision TKA leads to a significant reduction in symptoms and improvement in function. The worst results can be expected for early revisions in young patients. Revision TKA is a demanding procedure with variable results and should therefore be performed by experienced surgeons.

Level of evidence

Therapeutic study—Level IV.