新生儿听力与聋病易感基因联合筛查及干预管理系统在听力筛查中的应用价值

目的 探讨新生儿听力与聋病易感基因联合筛查及干预管理系统在听力筛查中的应用价值.方法 2005～ 2015年使用新生儿听力与聋病易感基因联合筛查及干预管理系统前后进行听力筛查的新生儿分别为25 805例、3 106例,比较使用该系统前后新生儿听力筛查的初筛率、复筛率、初筛通过率、复筛通过率、转诊率的差异.结果 应用该系统后,新生儿听力筛查的初筛率、复筛率明显提高(P＜0.05).结论 新生儿听力与聋病易感基因联合筛查及干预管理系统的应用显著提高了新生儿听力筛查的复筛率,减少了失访人数,提高了听力筛查的工作效率,有利于聋病患儿进行早期预防和干预治疗.     

617例缺血型脑卒中患者生存率及死亡影响因素的回顾性研究

目的对住院缺血型脑卒中患者进行随访,描述患者病后生存状况,并分析影响死亡的危险因素。方法回顾性收集2002年1月至2005年6月第四军医大学西京医院神经内科确诊的617例连续性缺血型脑卒中病例,采用电话、信访等方式随访患者的生存状况及死亡原因,2006年1月完成随访工作。应用Kaplan-Meier法进行生存率分析,采用Cox比例风险回归模型对影响患者死亡的危险因素进行单因素和多因素分析。结果随访时间最长47个月,失访59例（9．5%）。随访期间死亡80例,其中缺血型脑卒中60例,脑出血3例,心脏病10例,其他死因7例,中位生存时间42．16月。患者1、2、3年生存率分别为91．9%、89．4%、85．3%。单因素及多因素Cox比例风险模型显示,影响缺血型脑卒中患者死亡的主要危险因素有：高龄（RR=1．043,95%CI：1．013～1．074）, Glasgow评分低（RR=O．855,95%CI：0．742～0．985）,意识水平差（RR=4．085,95%CI：2．128～7．844）和存在并发症（RR=1．765,95%CI：1．108～2．812）。结论高龄、Glasgow评分低、意识水平差和存在并发症是缺血型脑卒中患者死亡的主要危险因素。     

后续经动脉化疗栓塞术介入应用于胆管癌并阻塞性黄疸治疗的临床研究

目的：探讨后续经动脉化疗栓塞术介入在胆管癌并阻塞性黄疸治疗中的临床价值。方法：选择2009年1月一2010年12月在本院进行治疗的胆管癌并阻塞性黄疸患者中能有效接受随访者为研究对象,共38例,所有入选患者均经病理检查证实。机械抽样随机将其中的11例分为A组,采取常规EMBE介入治疗;余27例分为B组,在常规EMBE介入治疗后加用局部灌注栓塞化疗术。结果：B组术后2W血清TBIL及DBIL均显著低于A组（P〈0．05）;血清STP和A水平显著高于A组（P〈O．05）;无进展生存期显著长于A组（P〈0．05）;总生存期显著长于A组（P〈0．05）。结论：对于胆管癌并阻塞性黄疸的患者,EMBE术后加用后续经动脉化疗栓塞术,可显著降低胆红素水平,有效改善肝功能,提高患者生存期。     

先天性心脏病术后残余室间隔缺损介入治疗及中长期随访

目的 评价先天性心脏病（先心病）术后残余室间隔缺损（VSD）介入治疗的效果及中长期随访结果。 方法 回顾性分析2002年9月至2014年5月复旦大学附属儿科医院介入治疗的先心病术后残余VSD患者的临床资料,对辅助检查、介入治疗情况和随访行描述性分析。结果 21例患者进入分析,男11例,女10例,平均年龄8.8（2.7～21）岁,平均体重26.3（10.5～53.5） kg。13例为VSD修补术后残余漏,其中2例合并主动脉弓缩窄修补术后再缩窄;5例为法洛四联症（TOF）术后残余VSD,其中1例合并频发室性早搏及短阵室性心动过速;2例为右室双出口术后残余VSD;1例为完全性大动脉转位术后残余VSD。介入治疗距离外科手术时间为11～80个月。①介入治疗中左心室造影测得VSD右心室面直径为(3.73±1.56) mm,4例右室面有多处分流,1例为左室-右房瘘;肺循环与体循环血流量之比为1.53±0.23;无中度以上肺动脉高压者。②21例患者中,1例介入治疗中建立轨道时反复发生Ⅲ度房室传导阻滞而放弃堵闭行外科手术治疗;20例（95.2%）封堵成功,其中1例应用2个堵闭器。1例合并频发室性早搏及短阵室性心动过速患儿同时行射频消融治疗成功;2例合并主动脉弓再缩窄患儿经球囊扩张后缩窄解除。介入治疗中无不良事件发生。介入治疗后即刻造影和经胸超声心动图显示少量残余分流3例。ECG均无异常发现。③20例随访1～79个月,均无明显临床症状。2例在1年随访中ECG分别出现不完全性右束支传导阻滞及Ⅰ度房室传导阻滞,继续随访6~12个月无改变;2/3例即刻有残余分流患儿在随访中残余分流消失,1例介入治疗后20个月时仍有残余分流3.4 mm,心腔大小和功能正常;无新发的三尖瓣或主动脉瓣反流,3例堵闭前存在的中重度三尖瓣反流在随访中反流均为轻度;未见堵闭器移位、脱落或血栓形成。结论 经导管堵闭介入治疗先心病手术后残余VSD是一项安全、有效和易行的方法,介入治疗后即刻和中长期随访效果好,应成为此类患儿首选的治疗方法。     

Detection of Lymphatic Micrometastases in Patients With Stages I and II Colorectal Cancer: Impact on Five-Year Survival

PURPOSE: Despite having removed the whole macroscopic disease (curative intent surgery), one of five patients with Stages I and II colorectal cancer will develop recurrence. Lymphatic micrometastases detected by immunohistochemistry could be one of explanation for recurrence and cancer-related death in patients without lymph node involvement at light microscopy. However, the biologic importance of micrometastases remains unclear. This study was designed to determine the impact of micrometastases in five-year survival in patients with Stages I and II colorectal cancer.METHODS: This retrospective study included patients operated on between May 1989 and January 1999 for colorectal cancer without histopathologic lymph node involvement. Patients who received any adjuvant therapy were excluded. Immunohistochemical staining of the lymph nodes was performed with antipancytokeratin antibodies. Follow-up data were obtained from the clinical database and death certificates. Survival was estimated by the Kaplan-Meier method and compared by the log-rank test.RESULTS: Micrometastases were observed in 26 of 90 patients (28.9 percent). The mean follow-up time was 90.7 (range, 11–160) months. Seventeen cancer-related deaths occurred during follow-up (18.9 percent), 6 of them in patients with micrometastases (23.1 percent) and 11 in patients without micrometastases (17.2 percent; P = 0.559). Cancer-specific five-year survival was 87 percent in the whole group and 81 percent in patients positive for micrometastases vs. 90 percent in negative patients (P = 0.489).CONCLUSIONS: The presence of micrometastases in patients with Stages I and II colorectal cancer seems not to have any impact on cancer-specific survival.Supported by the Apertus Research Program (Andromaco Pharmaceutical Company) and by The National Public Grant (FONDECYT #1000556).     

Fever of unknown origin in a Mediterranean survey from a division of internal medicine: report of 91 cases during a 12-year-period (1991–2002)

Despite the availability of all advanced diagnostic tools, fever of unknown origin (FUO) remains a diagnostic challenge for physicians. The objective was to define, through a retrospective study, the categories of the diseases of Sicilian patients admitted at the Department of Clinical Medicine and Emerging Diseases, University of Palermo, Italy, for classical FUO. Using the registration system for patients admitted from 1991 to 2002, 508 charts of patients admitted because of fever were reviewed. Of these, only 91 patients fulfilled the criteria for classical FUO. The origin of FUO was diagnosed in 62 (68.1%) patients. Infection was the most common cause of FUO with 29 cases (31.8% of total of FUO), neoplasms accounted for 13 cases (14.2%), collagen vascular disease for 11 cases (12.0%), and miscellaneous for 9 cases (9.8%). Undiagnosed FUO were 29 (31.8%) and, of them, 22 cases were followed-up for 2 years. A definite diagnosis could be established only in 8 cases, 13 subjects completely recovered and 4 of them died. In the 73.4% of cases, the FUO have been the result of misleading factors in the diagnostic approaches as made by the physician. The results of our study are similar to those already reported by other authors in other populations, with infections as first, neoplasm as second, and collagen vascular diseases as third most important causes of FUO. In our study the prognosis for undiagnosed FUO cases was good, but a definite diagnosis could be established only in few cases. Therefore, further multicentric, prospective studies of good design are required.     

Radiological evaluation of response to treatment in hepatobiliary fascioliasis

PurposeIn this study, we aimed to evaluate the computed tomography (CT) findings of Fasciola hepatica infestations on initial and follow-up imagings after treatment, and also to describe the role of CT during diagnosis.MethodsIn this retrospective study, patients with a diagnosis of fascioliasis by clinical and laboratory examination who underwent initial and follow-up contrast-enhanced abdominal CT scans after treatment (a single oral dose of 10 mg/kg Triclabendazole) were included. The CT scans were evaluated regarding liver and spleen sizes, portal and splenic vein diameters, involved hepatic segment numbers and involvement patterns, the presence of focal perihepatic hyperdensity, gallbladder wall thickening, dilatation of the intrahepatic biliary tract, periportal-right subdiaphragmatic lymphadenopathy, hepatic subcapsular and intra-abdominal bleeding, and perihepatic/intraabdominal free fluid. Initial (pre-treatment) and post-treatment CT scans (average 25 months after the treatment) were compared with for these features.ResultsA total of 36 patients with a mean age of 39.28 ± 14.64 [15-83] years, were included in this study. After treatment, marked improvement in liver parenchymal involvement, biliary system findings, hepatomegaly-splenomegaly, periportal-peridiaphragmatic lymphadenopathy, and hepatic subcapsular hematoma were detected and focal perihepatic hyperdensity, free intraperitoneal fluid disappeared.ConclusionContrast-enhanced abdominal CT can be used in the diagnosis and post-treatment follow-up of fascioliasis. Awareness of intrahepatic/extrahepatic lesions and all the complications of fascioliasis can greatly aid the diagnosis and also evaluation of the response to treatment.     

Glycated haemoglobin predicts progression to diabetes mellitus in Pima Indians with impaired glucose tolerance

Summary Glycated haemoglobin could offer several practical advantages over the OGTT for assessing glucose metabolism. Initial cross-sectional studies (1983–1985) on 381 subjects (mostly Pima Indians) described the relationship between HbA_1c (a specific glycated Hb) and the OGTT. We performed follow-up OGTTs and HbA_1c measurements on 257 of these same subjects 1.6–6.1 years later. Subjects were again grouped according to both the result of the OGTT (normal, IGT or diabetes, by WHO criteria) and HbA_1c result (normal or elevated based on mean ± 1.96 SD of normal). Of 66 subjects with IGT at baseline, 47 (71%) had normal HbA_1c and 19 (29%) had elevated HbA_1c. Twentysix (39%) of these subjects had diabetes at follow-up. Of these subjects with IGT, a significantly greater percentage of subjects with elevated HbA_1c at baseline (68%) showed worsening to diabetes than those with a normal HbA_1c (28%); (chi-square=7.8, df=1, p<0.01). Thus, in subjects with IGT, glycated Hb may be a useful predictor of progression to diabetes.Abbreviations OGTT Oral glucose tolerance test - WHO World Health Organisation - IGT impaired glucose tolerance