G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia.

Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine-rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwestern region of Russia. Of these, 51 patients were probands from families with PD compatible with autosomal dominant inheritance. The control group represented 161 subjects without neurological disorders settled in the same region. The frequency of the G2019S mutation was greater in familial PD (2 [3.9%] of 51) than in sporadic PD (1 [0.6%] of 157). In addition, this mutation was found in the proband's father, who also had PD, in 1 PD family, and in 1 carrier without signs of PD at age 40 in another PD family. All carriers were heterozygous for the G2019S mutation and reported the Ashkenazi Jewish origin. The mutation was not found in the control group.     

急性冠脉综合征中妊娠相关蛋白-A与斑块不稳定性

目的探讨妊娠相关蛋白-A(PAPP-A)在急性冠脉综合征(ACS)中的变化及其与斑块不稳定性的关系。方法26例冠脉正常者作为对照组,稳定性心绞痛(SA)组22例,ACS组40例,包括不稳定性心绞痛(UA)20例、急性心肌梗死(AMI)20例。定量检测外周血PAPP-A、C-反应蛋白(CRP)、肌酸激酶MB同工酶(CK-MB)。对所有冠脉造影显示狭窄≥30%的病变进行影像学分析。结果ACS中PAPP-A含量(13·19±4·04)mIU/L明显高于SA(5·47±3·00)mIU/L(P<0·01)及对照组(5·09±2·19)mIU/L(P<0·01);并且与CRP(r=0·62P<0·01)、复杂性狭窄的数量(r=0·45P<0·05)有显著的正相关。结论PAPP-A在ACS患者外周血中明显升高,可能与斑块的不稳定性有关,对ACS的危险度分层可能具有一定的价值。     

宫腔镜电切术在宫颈疾病中的应用

目的探讨应用官腔镜电切术治疗宫颈病变的临床效果。方法2002年1月～2003年6月，应用宫腔电切镜切除359例各类宫颈病变。结果359例均在门诊一次完成手术，手术时间5～15min，术中出血2-10ml。术后病理诊断慢性官颈炎332例，宫颈上皮内瘤样病变（cervical intraepithelial neoplasia，CIN）Ⅰ～Ⅱ级26例，CINⅢ级1例。335例随访2～12个月，平均9个月。术后2个月308例慢性富颈炎一次性治愈率98．7％（304／308）；237例随访1年宫颈糜烂、宫颈息肉及宫颈肥大未复发；27例CIN术后随访6～12个月未显示CIN病变。结论宫腔镜电切术治疗宫颈病变，疗效肯定，并发症少，值得推广。     

浅析《内经》之闭经证治

收集了《内经》有关闭经方面的相关阐述从而探讨闭经的病因病机、诊断与治疗,并详细记述了《内经》对血滞经闭和血枯经闭这两类型经闭的不同治疗法度。     

吸毒人群口腔黏膜疾病的调查

目的 了解吸毒人群口腔卫生习惯、个人嗜好，以及口腔黏膜病的患病情况，以期对此类人群进行早期口腔黏膜病的防治。方法 1999～2000年对厦门戒毒所200名吸毒人员进行口腔健康调查，通过询问及口腔检查了解此类人群口腔黏膜患病情况及与不良嗜好的关系。结果 200人中有125人患有9种口腔黏膜病，患病率最高为尼古丁口炎(27．5％)，其次为口干症(26．6％)，白色水肿(22．5％)。有口腔梅毒病史4例。200人均有吸烟嗜好，饮酒者190人，嗜酒者32人，占16％。结论 吸毒人群是不良嗜好的高发人群，是口腔黏膜病的高发人群，是性病高发人群。     

Chromatic pattern-reversal electroretinograms (ChPERGs) are spared in multiple system atrophy compared with Parkinson’s disease

Abstract Idiopathic Parkinson’s disease (IPD) patients have abnormal visual evoked potentials (VEPs) and pattern electroretinograms (PERGs), attributed to dopaminergic transmission deficiency in visual pathway, probably the retina. VEP abnormalities are not reported in multiple system atrophy (MSA). The aim of this study was to investigate and compare chromatic (Ch) red-green (R-G) and blue-yellow (B-Y), and luminance yellow-black (Y-Bk) PERGs in patients with MSA and IPD. We investigated 6 MSA patients (mean age: 62±7.4 years) not undergoing any pharmacological treatment, as well as 12 early IPD patients (mean age: 60.1±8.3 years) and 12 age-matched normal observers. ChPERGs were recorded monocularly in response to full-field equiluminant R-G, B-Y and Y-Bk horizontal gratings. In MSA only responses to R-G stimuli showed minimal insignificant changes (slight but not significant amplitude reduction without any significant latency delay); no significant abnormality was detected for B-Y and luminance Y-Bk stimuli. By contrast, in IPD all responses were reduced in amplitude and delayed in latency, above all for B-Y stimuli. Present data indicate that both chromatic and achromatic PERGs are virtually unaffected in MSA, whereas in early IPD they are clearly impaired, suggesting different pathogenic retinal mechanisms and a useful simple tool for distinguishing MSA from IPD.     

多巴酚丁胺负荷超声心动图及组织多普勒成像技术在诊断冠心病中的临床应用

目的探讨多巴酚丁胺负荷超声心动图(DSE)和组织多普勒成像技术(TDI)在冠心病(CHD)诊断中的应用价值,以寻求一种敏感的、无创的CHD诊断方法。方法选择胸闷或胸痛怀疑CHD患者40例,应用TDI测量静息状态(Rest)下前壁中段收缩峰值速度(Vs),以及多巴酚丁胺峰值负荷状态(Peak)下前壁中段Vs,同时测量静息心率和负荷心率;所有入选对象均进行冠脉造影,并根据左前降支狭窄程度是否大于等于50%分为左前降支狭窄组(LST组)与左前降支非狭窄组(non-LST组)。分别比较Rest和Peak前壁中段LST组与non-LST组平均Vs差别等。结果Rest前壁中段LST组与non-LST组Vs差别无显著性意义;但Peak前壁中段LST组与non-LST组差别有显著性意义。结论DSE结合TDI是诊断冠心病有价值的定量分析方法。DSE在诊断CHD时的敏感性、准确性明显优于静息状态超声心动图。     

舒利迭加无创通气治疗稳定期慢性阻塞性肺疾病的临床研究

目的探讨舒利迭(吸入型肾上腺皮质激素与长效β2-受体激动剂的预混制剂)联合双水平气道正压通气(B iPAP)对稳定期慢性阻塞性肺疾病(COPD)的治疗作用。方法稳定期COPD病人52例,舒利迭TM50/250,1吸/次,2次/d;B iPAP,吸气压力(IPAP)10~20cm H2O,呼气压力(EPAP,也称PEEP)3~6cm H2O,吸氧浓度(FiO2)3L/m in,每天夜间通气6~8h。观察治疗前、治疗后12周病人临床症状、生活质量、健康状态和肺功能。结果治疗前、治疗后12周病人的临床症状、急性加重次数及严重程度、健康状态和生活质量、肺功能等指标比较差异有统计学意义(P<0.05)。结论舒利迭联合B iPAP治疗稳定期COPD病人能够明显改善其症状,提高生活质量,有一定的临床应用价值,对减缓COPD病人肺功能下降有积极意义。     

Cutaneous, pulmonary and hepatic sarcoidosis associated with autoimmune complications during interferon-alpha treatment for hepatitis C virus infection

A patient with hepatitis C virus (HCV) infection was diagnosed with cutaneous, pulmonary and hepatic sarcoidosis following interferon alpha therapy. There are only a few cases of sarcoidosis associated with this treatment. This is the first case who not only developed sarcoidosis, but also autoimmune hypothyroidism and thrombocytopenia during interferon alpha therapy due to the immunomodulatory effects of the drug.     

Kidney Disease After Heart and Lung Transplantation

Kidney disease is a commonly recognized complication of heart and lung transplantation and is associated with increased morbidity and mortality. While the spectrum of kidney disease in this population is wide-ranging, studies indicate that between 3% and 10% of these patients will ultimately develop end-stage renal disease (ESRD). This review examines the risk factors for both acute and chronic kidney injury, with a particular emphasis on the role of calcineurin inhibitor-mediated nephrotoxicity in both these settings. Against the background of current National Kidney Foundation Kidney Disease Outcomes Quality Initiative (KDOQI) guidelines, we have further considered and recommended appropriate strategies for long-term management of kidney disease-related manifestations in heart and lung transplant recipients. Specific aspects addressed include retarding progressive renal injury and minimizing nephrotoxicity, as well as treatment of hypertension, hyperlipidemia and anemia. Finally, for patients in this population with advanced kidney disease, renal replacement therapy options are discussed. Based on the impact of chronic kidney disease on outcomes in both heart and lung recipients, we advocate early referral to a nephrologist for patients displaying evidence of significant renal dysfunction.