保护储集层智能化计算机系统

本文介绍了一个保护储藏层的智能化计算机系统－－ＰＦＩＣＳ该系统集矿场和室内信念层分析技术，不同领域优秀专家的经验与现代人工智能专家系统新技术和仿真技术的新进展为一体，运用知识工程技术以及数据处理技术完成储集层的识别、评价、诊断、预防和处理等系统工程问题的决策与分析。本文着重描述了该系统的基本结构，功能特征及其知识、数据的组织与管理。

进行性家族性肝内胆汁淤积

进行性家族性肝内胆汁淤积(PFIC)是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积症。根据病因可以分为3型：1型源于ATP8B1基因的突变,2型源于ABCB11基因的突变,3型源于MDR3基因的突变。临床以有胆汁淤积以及严重的皮肤瘙痒为特征。治疗方法包括药物治疗、外科部分胆道外分流术和肝移植三种方法。

中医气针疗法治疗进行性家族性肝内胆汁淤积症3型伴胆囊病1型一例

进行性家族性肝内胆汁淤积症(Progressive Familial Intrahepatic Cholestasis,PFIC)是一种常染色体隐性遗传性肝细胞性胆汁淤积症,属于罕见病的一种。总结收治的1例PFIC合并胆囊病患者的诊断和治疗,首次证实了PFIC合并胆囊病与遗传基因相关,并经中医气针疗法治疗后病情得到了明显好转。给今后的诊治提供有力的参考。

进行性家族性肝内胆汁淤积症2型2例

进行性家族性肝内胆汁淤积症是一组临床较为罕见的家族遗传性疾病,存活率低,生存质量极差且治疗困难。笔者临床所见进行性家族性肝内胆汁淤积症兄妹患者2例,将其诊疗经过总结探讨,以提高医疗水平。

Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated

Background and Aims:We asked if comprehensive bile acid profiling could provide insights into the physiopathology of ABCB4-mutated patients and evaluated the prognostic value of taurine-conjugated tetrahydroxylated bile acid(tauro-THBA)in cholestasis.Methods:Serum bile acid profiles were evaluated in 13 ABCB4-mutated patients with 65 healthy controls by ultra-high-performance liquid chromatography/multiple-reaction monitoring-mass spectrometry(UPLC/MRM-MS).The concentration of tauro-THBA was compared between ABCB4-mutated patients with different prognoses.The areas under the curve(AUCs)of tauro-THBA were compared between ABCB11-mutated patients with native liver survival and those who died or underwent liver transplantation before 3 years of age by receiver operating characteristic curve(ROC),with another patient cohort for further verification.Results:The overall hydrophobicity indices of bile acids in ABCB4-mutated patients(12.99±3.25 m)were significantly lower than those of healthy controls(14.02±1.74 m,p<0.000).That was due to markedly increased bile acid modifications including conjugation,sulfation,and ketonization.Differences in the tauro-THBA concentration in ABCB4-mutated patients with different prognoses were not significant.ROC analysis indicated that levels of tauro-THBA of<60 nM yielded an AUC of 0.900 with a sensitivity of 80%and specificity of 87.5%for ABCB11-mutated patients with different prognoses(p=0.0192).Of the 15 patients with good prognosis,14 were classified correctly and four of the five patients with a poor prognosis were classified correctly(14:15 vs.1:5,p=0.005)with tauro-THBA as a classifier.Conclusions:Tauro-THBA concentration may be a biomarker for predicting the clinical outcome in low gammaglutamyl transferase intrahepatic cholestasis patients.

进行性家族性肝内胆汁淤积症诊治及研究进展

进行性家族性肝内胆汁淤积症（progressive familial intrahepatic cholestasis， PFIC）是一组常染色体隐性遗传疾病，因基因突变导致胆汁排泌障碍，临床以肝内胆汁淤积为主要表现，通常在婴儿期或儿童期起病，最终发展为肝衰竭。根据其致病基因不同，PFIC主要分为3型： PFIC1由ATP8B1基因突变引起，导致该基因编码的P型ATP酶——FIC1缺陷；PFIC2源于编码胆盐排泄泵（bile salt export pump， BSEP）蛋白的基因ABCB11突变；PFIC3为编码多药耐药糖蛋白（MDR3）的ABCB4基因的突变［1]。