艾滋病合并巨细胞病毒血症患者临床特点分析

目的 了解AIDS合并CMV血症患者的临床特征.方法 回顾性分析2008年10月至2009年11月北京地坛医院住院的249例AIDS患者的临床资料,对其中43例确诊为CMV血症患者的临床症状、脑脊液检查结果、气管镜、胃镜和肠镜检查等资料通过Excel软件建立数据库,并利用统计软件SPSS12.0分析细胞免疫功能和CMV DNA水平的相关性.结果 在249例AIDS患者中,43例经过CMV pp65抗原和CMV DNA检测确诊为CMV血症;14例患者眼底镜检查提示视网膜渗出或视网膜出血;4例出现眼底视网膜渗出或出血后机化;通过气管镜肺泡灌洗液病理检查发现1例确诊CMV肺炎;低水平CD4+T淋巴细胞和CMV DNA阳性具有相关性.结论 对CD4+T淋巴细胞＜100×106/L的AIDS患者应进行CMV DNA或pp65抗原的筛查,并予以全身抗CMV治疗;眼底镜和气管镜肺泡灌洗液病理检查是确诊CMV视网膜炎和肺炎的有效方法.

Abstract：

Objective To understand the clinical features of patients with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS) complicated by cytomegalovirus (CMV)viremia.Methods The clinical data of 249 cases of HIV/AIDS patients hospitalized in Beijing Ditan Hospital from Oct 2008 to Nov 2009 were analyzed retrospectively,in which 43 HIV/AIDS patients were diagnosed with CMV viremia.The symptoms and signs,cerebrospinal fluid (CSF)tests,and pathological detections by bronchoscope,gastroscope and fibercoloscope were collected.The database was set up using Excel software.The association between cellular immunity and CMV DNA level was determined by SPSS12.0 software.Results Forty-three patients (17.3%)were diagnosed with CMV viremia by positive results of CMV pp65 antigen and CMV DNA tests; 14 patients manifested retinal bleeding or infiltration and 4 patients displayed retinal fibrosis; 1 patient was diagnosed with CMV pneumonitis by pathological results of bronchoalveolar lavage fluid.Low level of CD4+ T lymphocytes and CMV DNA levels were positively correlated.Conclusions CMV pp65 antigen and CMV DNA should be detected in HIV/AIDS patients with CD4+ T lymphocytes less than 100 × 106/L and anti-CMV treatment should be given according to the results.Ophthalmologic examination and bronchoalveolar lavage fluid pathological detection are effective methods in diagnose of CMV retinitis and pneumonitis.     

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene(EYS) encoding an ortholog of Drosophila space maker (spam) as a commonly mutated gene in autosomal recessive RP. In the present study, we report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28)are possibly pathogenic, whereas 39.3% (11/28) are SNPs. In addition, we have detected 3 pathogenic changes previously reported in other populations. We are also presenting the characterisation of EYS homologues in different species, and a detailed analysis of the EYS domains, with the identification of an interesting novel feature: a putative coiled-coil domain.Majority of the mutations in the arRP patients have been found within the domain structures of EYS. The minimum observed prevalence of distinct EYS mutations in our group of patients is of 15.9% (15/94), confirming a major involvement of EYS in the pathogenesis of arRP in the Spanish population. Along with the detection of three recurrent mutations in Caucasian population, our hypothesis of EYS being the first prevalent gene in arRP has been reinforced in the present study.     

Neanthes japonica (Iznka) fibrinolytic enzyme reduced cerebral infarction, cerebral edema and increased antioxidation in rat models of focal cerebral ischemia

X-linked retinitis pigmentosa (XLRP) is the most severe type of retinitis pigmentosa (RP), with patients consistently showing early onset and rapid deterioration. Obtaining a genetic diagnosis for a family with XLRP is important for counseling purposes. In this study, we aimed to identify disease-causing mutations in two unrelated XLRP families. Genetic analysis was performed on two unrelated XLRP families. Genomic DNA was extracted from peripheral blood or amniotic fluid samples. The coding regions and intron/exon boundaries of the Retinitis Pigmentosa GTPase Regulator (RPGR) and RP2 genes were amplified by PCR and then sequenced directly. A clinically unaffected pregnant female and the four month old fetus were found to have a hemizygous 2 base pair deletion (g.ORF15+484_485delAA) in the exon ORF15 of RPGR gene. In another XLRP family, a nonsense mutation (g.ORF15+810G>T) was identified. Neither mutation has been reported previously. Both are predicted to cause premature termination of the protein. In conclusion, we identified a micro-deletion through prenatal genetic diagnosis and another novel nonsense mutation in RPGR-ORF15. Identifying a disease-causing mutation facilitated early diagnosis and genetic counseling for the patients. Discovery of novel mutations also broadens knowledge of XLRP and the spectrum of its pathogenic genotypes.