连续性肾脏替代治疗多脏器功能障碍综合征患者血清细胞因子的变化及意义

目的探讨多脏器功能障碍综合征（MODS）患者应用连续性肾脏替代治疗（CRRT）血清细胞因子的变化及预后价值。方法选择MODS患者34例,常规治疗后行CRRT。根据随访患者28 d结局分为存活组19例、死亡组15例。分别在CRRT治疗前,治疗后6、12、18、24、48、72 h检测两组IL-1β、IL-1Rα、IL-6、TNF-α、IL-10、可溶性肿瘤坏死因子受体1（sTNFR1）,同时各时点进行动态急性生理和慢性健康评分（APACHEⅡ评分）。结果①与治疗前比较,存活组CRRT治疗后不同时间血清IL-1β、IL-6、TNF-α、sTNFR1、IL-10水平显著下降（P〈0.05或〈0.01）,血清sTNFR1/TNF-α明显升高（P〈0.01）;死亡组IL-1Rα在12 h明显升高（P〈0.01）,TNF-α在6 h明显下降（P〈0.05）。存活组与死亡组比较,TNF-α水平在72 h差异有统计学意义（P〈0.05）。②存活组中APACHEⅡ评分在48、72 h与治疗前相比明显下降（P〈0.05或〈0.01）。存活组与死亡组比较,能明显降低APACHEⅡ评分,在48、72 h有统计学意义（P均〈0.01）。③血清IL-6、TNF-α、IL-10水平以及sTNFR1/TNF-α与APACHEⅡ评分呈正相关（r分别为0.893、0.747、0.864、0.752,P〈0.05或〈0.01）。结论 MODS患者应用CRRT后血清IL-1β、IL-6、TNF-α、sTNFR1、IL-10水平降低,血清sTNFR1/TNF-α升高,这些细胞因子可预测MODS患者的预后。     

不同置换量连续性血液净化治疗对多器官功能障碍综合征患者细胞因子的影响

目的探讨不同置换量连续性血液净化（CBP）治疗对多器官功能障碍综合征（MODS）患者细胞因子的影响。方法将18例接受CBP治疗的MODS患者随机分为以下3组：A组6例,置换液量每小时〈35ml／kg;B组6例,置换液量每小时45ml／kg;C组6例,置换液量每小时〉60ml／kg。在治疗前,治疗后24、48、72小时观察急性生理学与慢性健康状况Ⅱ（APEACHEⅡ）评分变化,并测定血浆中肿瘤坏死因子-α（TNF-α）、白细胞介素-1β（IL-1β）和白细胞介素-10（IL-10）的水平。结果治疗48小时后,B组和C组APEACHE Ⅱ评分明显下降（P〈0．05）;治疗24小时后,B组和C组TNF-α、IL-1β水平下降（P〈0．05或P〈0．01）,与A组比较,差异有显著性（P〈0．05或P〈0．01）,各组IL-10水平与治疗前比较无显著性差异。结论每小时45ml／kg以上置换量CBP可清除多种细胞因子,改善临床状况。     

炎性因子在急性脑卒中致MODS病程中的变化及意义

目的探讨急性脑卒中致全身炎症反应（SIRS）、多器官功能障碍综合征（MODS）病程中炎性因子水平的变化及意义。方法100例急性脑卒中患者根据病情变化分为单纯脑卒中组、SIRS组、MODS组,采用酶联免疫吸附法测定各组患者入院第1、7、14天血清高敏C反应蛋白（hsCRP）、肿瘤坏死因子-α（TNF-α）、白介寨6（IL-6）水平。另选25例健康查体者作为对照组。结果MODS组、SIRS组、单纯脑卒中组血清hsCRP、TNF-α、IL-6水平均明显高于对照组,且随病情加重逐渐升高。结论炎性因子过度表达在急性脑卒中致SIRS、MODS发病机制中发挥重要作用,炎性因子持续升高提示预后不良。     

连续血液净化联合乌司他丁治疗脓毒症休克疗效观察

目的:观察连续血液净化(CBP)联合乌司他丁治疗脓毒症休克的疗效。方法:选择脓毒症休克患者80例,按照入院顺序分为观察组与对照组,每组40例,2组均在常规治疗基础上,采用CBP治疗,观察组加用乌司他丁,以2万IU/h静脉滴注,连续应用7 d。评估治疗前和治疗72 h后多巴胺和去甲肾上腺素用量变化,检测血乳酸(Lac)水平、氧合指数(PaO_2/FiO_2)、炎性反应指标TNF-α、IL-6和CRP水平的变化,采用急性生理与慢性健康状况评分(APACHEⅡ)和多器官功能衰竭(MODS)评分评估疾病严重程度。结果:治疗72 h后,2组多巴胺和去甲肾上腺素用量均明显减少,组间比较无显著性差异(P 0. 05);治疗72 h后2组血Lac水平下降,PaO_2/FiO_2上升,观察组改善效果优于对照组(P 0.05);治疗后2组TNF-α、IL-6和CRP水平均明显下降,观察组效果明显优于对照组(P 0. 05);治疗72 h后,2组APACHEⅡ和MODS评分均明显降低,观察组下降幅度大于对照组(P 0. 05)。结论:CBP联合乌司他丁治疗脓毒症休克可促进血Lac清除,升高PaO_2/FiO_2,降低体内炎性反应,改善疾病状态,联合应用可有效缓解疾病严重程度。     

乌司他丁治疗全身炎症反应综合征效果评价

将50例全身炎症反应综合征(SIRS)患者随机分成两组,观察组给予常规抗感染治疗,对照组在此基础上给予乌司他丁(UTI)20万U静注,1次/12 h,连用5 d.常规监测患者心率、呼吸频率、体温、WBC、SIRS症状改善时间和病死率;治疗前后抽取静脉血检测血清肿瘤坏死因子α(TNF-α)、IL-1β、IL-6、IL-8、IL-10水平.结果 观察组体温、呼吸频率、心率及WBC治疗后改善情况均明显优于对照组,SIRS症状持续时间较对照组明显缩短;两组治疗后TNF-α、IL-1β、IL-6、IL-8水平均较治疗前明显下降,但观察组TNF-α、IL-6和IL-8下降较对照组更明显;两组治疗后IL-10较治疗前均显著升高.认为UTI可能通过上调抗炎因子和下调促炎因子调控机体炎症反应过程,从而对SIRS起到控制和治疗作用.     

连续血液净化联合乌司他丁治疗脓毒症休克的临床观察及对TNF-α、IL-6和crp表达的影响

目的 观察连续血液净化(CBP)联合乌司他丁治疗脓毒症休克的临床效果。方法 2015年6月~2017年6月符合脓毒症休克诊断患者80例随机分为观察组合对照组各40例,在常规治疗基础上,两组均采用CBP治疗,观察组加用乌司他丁50万IU静脉滴注。评估治疗前和治疗72h后多巴胺和去甲肾上腺素用量变化,检测乳酸水平(Lac)、氧合指数(PaO₂/FiO₂)、炎性反应指标TNF-α、IL-6和crp变化,APACHE Ⅱ和MODS评分评估疾病严重程度。结果 2组治疗72h后多巴胺和去甲肾上腺素用量均明显下降,组间比较无显著性差异(P＞0.05);治疗72h后2组Lac水平下降,PaO₂/FiO₂上升,观察组改善效果优于对照组(P＜0.05);治疗后2组TNF-α、IL-6和crp水平均明显下降,观察组效果明显优于对照组(P＜0.05);治疗72h后,2组APACHE Ⅱ和MODS评分均明显降低,观察组下降幅度明显优于对照组(P＜0.05)。结论 CBP联合乌司他丁治疗脓毒症休克可促进Lac清除,升高PaO₂/FiO₂,降低体内炎性反应,改善疾病状态,联合应用具有协同效应,可有效缓解疾病严重程度。     

同型半胱氨酸、肿瘤坏死因子-α和白细胞介素-6对急性胰腺炎严重程度及预后的评价

目的 探讨同型半胱氨酸（HCY）、肿瘤坏死因子（TNF）-α和白细胞介素（IL）-6与急性胰腺炎（AP）病情严重程度的相关性以及对AP患者预后的评估价值.方法 选取AP患者64例,将其分为轻症AP组41例（MAP组）、重症AP组23例（SAP）;另选取健康体检者72例作为对照组.分别于入院第1、3和7天抽取静脉血检测血清HCY、TNF-α和IL-6水平,同时进行急性生理和慢性健康评分标准Ⅱ（APACHEⅡ）评分.结果 与对照组比较,入院第1天MAP组和SAP组血清HCY、TNF-α和IL-6水平均升高（P＜0.01）,其中SAP组升高更加明显（P＜0.01）;入院第3天时MAP组和SAP组血清HCY、TNF-α和IL-α水平均明显升高达到峰值;经常规治疗后（入院第7天）,两组HCY、TNF-α和IL-6水平均明显下降.HCY、TNF-α和IL-6水平与APACHEⅡ评分呈正相关（P＜0.01）.结论 血清HCY、TNF-α和IL-6水平与AP的发生、发展相关,早期密切观察血清HCY、TNF-α和IL-6水平变化对评估AP的严重程度和判断预后有一定的临床价值.     

连续性血液净化治疗老年多器官功能障碍及对机体免疫功能的影响

目的观察连续性血液净化（CBP）治疗老年多器官功能障碍综合征（MODS）及对机体免疫功能的影响。方法18例老年MODS患者，CBP治疗72h。在治疗0，24，48，72h时，测定单核细胞人类白细胞DR抗原（HLA—DR）的表达情况判断其抗原呈递功能（流式细胞仪），ELISA法测定细胞因予水平（TNF-α、IL-6、IL-10）；同时观察外周血单核细胞计数。结果18例患者在接受CBP治疗时，（1）单核细胞分泌功能：治疗前单核细胞分泌活跃，治疗后该组单核细胞分泌TNF-α、IL-6和IL-10均明显减少（P〈0．05）。（2）单核细胞抗原呈递功能：与正常人相比，MODS患者单核细胞表达HLA—DR都明显降低（P〈0．001）。治疗后明显改善（P〈0．01）。（3）单核细胞数量：治疗前，与正常指标比较单核细胞数量均明显降低，治疗后单核细胞数量明显上升接近正常水平。CBP治疗后，血浆TNF-α和IL-6水平较治疗前明显降低（P〈0．01）。（4）7例死亡患者IL-10较其他患者明屁升高，HLA—DR的表达则明显低下，CBP治疗后无明显改变。结论（1）CBP能明显改善老年MODS患者单核细胞功能，重建机体免疫系统内稳状态。（2）HLA-DR持续低表达和高血浆IL-10水平者预后差。（3）对免疫过度激化伴血浆细胞因子明硅升高者，CBP显示了是好的清除效果。     

高龄髋关节术后镇痛与全身炎症反应综合征相关性研究

目的观察高龄髋关节手术后镇痛与全身炎症反应综合征（SIRS）间的相关性。方法将32例65～90岁髋关节手术患者随机分为M组和E组,术后分别采取肌注镇痛和硬膜外自控镇痛,观察肿瘤坏死因子（TNF-α）、白介素6（IL-6）水平变化,并行视觉模拟评分（VAS）与SIRS评分。结果两组TNF-α和IL-6术后均较术前升高,M组持续到术后24h达峰值,E组术后24h水平明显低于M组（P〈0.05）;E组术后各时间点VAS与SIRS评分均明显低于M组。结论高龄髋关节术后应用硬膜外自控镇痛有效降低疼痛强度同时,显著抑制TNF-α、IL-6等释放,有效防治术后SIRS的发生与发展。     

重症急性胰腺炎患者炎症反应与心率变异相关性研究

目的 探讨重症急性胰腺炎（SAP）患者急性期的心率变异性与血清炎症因子（TNF-α、IL-6）、降钙素原以及APACHEⅡ评分的关系.方法 收集2012年1月至2013年1月南京军区南京总医院普外科收治的41例SAP患者.入院24 h内采集5 min心电图数据进行心率变异性分析;同时采集患者血液,检测血清TNF-α、IL-6、降钙素原水平;入院24 h内行APACHEⅡ评分.分析心率变异性和上述各指标的相关性.结果 41例SAP患者中男性22例,女性19例,平均年龄47岁.其中胆源性20例,酒精性7例,高脂血症性9例,其他病因5例.血清TNF-α、IL-6、降钙素原水平分别为455 μg,/L、334μg/L、0.3 pg/L.APACHEⅡ评分为11 ～18分,平均14分.心率变异性的总功率（TP）、低频功率（LF）、高频功率（HF）分别为205.6、52.9、11.0 ms×ms,标准化低频功率（nLF）、标准化高频功率（nHF）分别为36.6、10.2 nU,低频高频功率比例（LF/HF）为3.4.nHF与血清TNF-α、IL-6、降钙素原水平及APACHEⅡ评分均呈正相关（r值分别为0.849、0761、0.480、0.346,P＜0.01或＜0.05）.LF/HF与血清TNF-α、IL-6、降钙素原水平均呈负相关（r值分别为-0.525、-0.708、-0.325,P＜0.01或＜0.05）,与APACHEⅡ评分无相关性.nLF与血清TNF-α、IL-6、降钙素原水平及APACHEⅡ评分均无相关性.结论 SAP患者血清TNF-α、IL-6、降钙素原水平与心率变异性密切相关.     

Patients’ experiences of a diagnosis of Hughes’ syndrome

The objectives of the study were to describe the experience of patients immediately prior to a diagnosis of Hughes syndrome (HS) or antiphospholipid syndrome and post-diagnosis. A questionnaire survey was carried out set in the Hughes Syndrome Foundation, St. Thomas’ Hospital, London, 2006. Participants were all patients who are members of the Hughes Syndrome Foundation. The main outcome measures were responses to a questionnaire relating to the experiences of people with a diagnosis of HS, such as number of hospitalisations, number of consultants seen, number of miscarriages, etc. A total of 157 patients completed the questionnaire, giving a response rate of 60.4%. Most (85%) were women and mean age was 46 years (SD 12). The median time to diagnosis was 3 years. The median number of consultants seen was 2 (max 19) with a median time in hospital pre-diagnosis of 10 days. The most common initial diagnoses were migraines, multiple sclerosis and systemic lupus erythematosus. Among women, 46% had had a miscarriage. Two thirds of respondents thought a blood test would have led to an earlier diagnosis. Comments from patients indicated a lack of awareness among specialists and general practitioners. The survey demonstrated a long time lag for diagnosis of Hughes syndrome, with increased costs to the NHS and emotional and financial cost to the patient. Greater awareness of this condition would benefit patients and the NHS.     

遗传性低钾失盐性肾小管病临床分析

目的：分析遗传性低钾失盐性肾小管病的临床特点。方法：回顾性分析上海瑞金医院肾内科住院治疗Bartter综合征和Gitelman综合征共23例，其中经典型Bartter综合征4例，Gitelman综合征19例。结果：4例Bartter综合征发病年龄4月-33岁，临床上以多饮、多尿、乏力主要表现，2例患儿表现为脱水、呕吐、生长发育障碍；19例Gitelman综合征患者发病年龄10—52岁，临床上以双下肢无力、多饮、多尿、夜尿增加为主要表现，部分Gitelman综合征患者伴手足抽搐；实验室检查均表现为低血钾代谢性碱中毒，尿钾排出增加，血肾素活性、血管紧张素Ⅱ及醛固酮明显升高。而血压正常；经典型Bartter综合征尿钙肌酐比〉0．2，Gitelman综合征表现为低血镁、低尿钙、低尿钙肌酐比〈0．2；补钾或联合消炎痛、安体舒通和门冬氨酸钾镁等药物治疗后症状缓解。结论：低钾失盐性肾小管病主要特点包括低血钾代谢性碱中毒、高尿钾、血肾素、血管紧张素Ⅱ、醛固酮水平增高而血压正常，Bartter综合征和Gitelman综合征鉴别主要在发病年龄、血镁和尿钙水平，本病治疗应补钾、补镁、前列腺素合成酶抑制剂、醛固酮拮抗剂等多种药物联合应用。     

几种主要的先天性胆红素代谢障碍性肝病的临床及病理研究

目的回顾性研究并分析几种主要的先天性胆红素代谢障碍性肝病的临床及病理学特点。方法收集我院2000年以来7036例患者的活体肝组织穿刺病理学诊断（肝穿）资料,其中主要的几种先天性胆红素代谢障碍性肝病病例155例,包括Gilbert综合征115例,Dubin—Johnson综合征33例,Crigler-Najjar综合征5例,Roter综合征2例,并结合其临床资料、生化检查进行统计学比较分析;采用常规HE染色及胆色素、铁、铜、网状纤维和胶原纤维等特殊染色,结合部分免疫组织化学染色,探讨其临床及病理学特点。结果该组155例先天性胆红素代谢障碍性肝病病例占总肝穿病例的2．2％,男女比例为5：1。年龄2～49岁;病史1个月～39年;临床主要以眼黄、尿黄和皮肤黄染为主（60．0％）,其次为乏力和纳差（20．6％）、脾大（21．9％）及肝大（17．4％）、胆红素升高（16．1％）。实验室比较分析,Gilbert综合征和Crigler—Najjar综合征以间接胆红素（IBIL）增高为主,Dubin-Johnson综合征和Roter综合征以直接胆红素（DBIL）增高为主,其中有3例Dubin—Johnson综合征患者在发病过程中动态监测始终以IBIL增高为主;主要病理改变为：肝组织内小叶结构均基本完整,中央区周围／区域肝细胞浆内在Gilbert综合征和Crigler—Najjar综合征可见较细的棕褐色色素颗粒沉积,在Dubin—Johnson综合征可见较粗糙的棕黑色色素颗粒沉积,而Roter综合征几乎难觅色素颗粒;部分肝细胞轻度水样变性或脂肪变性,Kupffer细胞内无吞噬色素颗粒现象;小叶间胆管轻度增生,无纤维组织增生及界面炎改变。结论先天性胆红素代谢障碍性肝病病例以男性为主,发病年龄以青少年居多,临床表现及实验室检查具有一定特点,病史从几个月到十几年不等,未见慢性化病理改变,组织检查均显示其特殊的病理特征,但?     

Relapsing catastrophic antiphospholipid syndrome: report of three cases

BACKGROUND: The catastrophic variant of the antiphospholipid syndrome (CAPS), also now known as Asherson's syndrome, is defined as a potential life-threatening variant of the antiphospholipid syndrome, which is characterized by multiple small-vessel thrombosis that can lead to multiorgan failure. Relapses in patients with the CAPS are very uncommon. OBJECTIVE: To describe the clinical and laboratory features of patients with relapsing episodes of CAPS. METHODS: Three patients with relapsing CAPS are presented with their clinical and laboratory features. RESULTS: Seven episodes of CAPS that occurred in the 3 patients reported were analyzed. The median time between the episodes of CAPS was 12.5 months (range, 2.5-48). Precipitating factors were identified in 2 episodes only (Legionella respiratory tract infection and periodontal infection). The most significant manifestations of the episodes were renal involvement (5 episodes), central nervous system and cardiac involvement (4 episodes), and pulmonary and hepatic involvement (3 episodes each). Interestingly, laboratory features of definite microangiopathic hemolytic anemia (MHA) were present in 5 of 7 episodes of relapsing CAPS. The remaining episodes presented with thrombocytopenia, schistocytes, and anemia but data concerning hemolysis and Coombs tests were not reported. Rituximab was used in 2 episodes. CONCLUSIONS: Relapses occur very infrequently in patients with the CAPS. The presence of MHA is common in these patients, suggesting that an association between MHA and relapses of CAPS could be present and that a "continuum" between various MHAs might exist, as recently suggested.     

Clinical and dermatologic aspects of the hereditary intestinal polyposes

Distinctive cutaneous lesions frequently accompany and occasionally precede the intestinal lesions in Gardner's syndrome, Peutz-Jeghers syndrome, and Muir's syndrome. Awareness of the dermatologic manifestations of these entities may facilitate early diagnosis in these potentially life-threatening hereditary disorders.     

Uncommon compressive neuropathies of upper limbs

To present the clinical features of less common entrapment neuropathies of upper limbs, introduce diagnostic tools, comment on the general bases of treatment, and create awareness of these conditions.Although these conditions are rare, adequate and rapid diagnosis is necessary to initiate appropriate treatment in a timely manner, in order to avoid further nerve insults, associated muscle atrophy, and their consequences in quality of life.     

Post-cardiac injury syndromes. An emerging cause of pericardial diseases

The term “post-cardiac injury syndromes” includes post-myocardial infarction pericarditis, post-pericardiotomy syndrome, and post-traumatic pericarditis (iatrogenic, i.e. after percutaneous coronary or intracardiac interventions, such as pacemaker lead insertion, radiofrequency ablation, or non-iatrogenic, i.e. following blunt or penetrating trauma). All these conditions represent different clinical conditions characterized by an initial cardiac injury involving the pericardium/myocardium and/or pleura and the subsequent inflammatory syndrome ranging from simple, uncomplicated pericarditis to more complicated cases with pleuropericarditis, cardiac tamponade or massive pleural effusion. The etiopathogenesis is presumed to be immune-mediated in predisposed individuals that develop autoreactive reactions following the initial traumatic event. Treatment is essentially based on empirical anti-inflammatory therapy and adjunctive colchicine, which has been shown to be safe and efficacious for the prevention of pericarditis.     

复杂性嵌合体Klinefelter综合征合并代谢综合征一例

报道一例染色体类型为46,XY/47,XXY/48,XXXY嵌合体同时合并代谢综合征的Klinefelter综合征患者。     

Syndromic Disorders with Short Stature

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.