呼吸道感染患儿咽拭子肺炎支原体DNA的检测分析

肺炎支原体（Mycoplasma pneumonia,MP）是儿童呼吸道感染的常见病原体。为了解本地呼吸道感染儿童咽拭子中MP的检出情况,本研究回顾性分析了2012年至2014年杭州市余杭区妇幼保健院儿科门诊及住院的15d～14岁呼吸道感染患儿的资料,现将结果报道如下。     

不育病人泌尿生殖道中肺炎支原体的检测及意义

目的：探讨不明原因不育症与泌尿生殖道肺炎支原体（MP）感染的关系。方法：用肺炎支原体PCR试剂盒检测不育症病人与正常对照组的精液或宫颈粘液中的肺炎支原体。结果：98例男性不育症病人的MP感染率为24．5％（24／98），28例正常生育男性MP的感染率为3．6％（1／28），不育与生育组之间的差异显著（P〈0．05）；10例女性不孕症病人MP感染率为30％（3／10），25例正常生育妇女的感染率为4％（1／25）．二者之间差异不显著。结论：MP的泌尿生殖道感染与不明原因不育症有一定的关系，应受到重视。     

浙江省某中学肺炎支原体感染暴发的流行病学及临床特点

肺炎支原体（Mycoplasma pneumoniae,MP）感染是引起原发性非典型肺炎和社区获得性肺炎的重要病原体。有研究表明,在社区获得性肺炎中肺炎支原体的急性感染率为11．4％,既往感染或病原携带者为5．7％,总发生率为17．1。     

Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge

Congenital analbuminemia is a rare autosomal recessive disease in which albumin is not synthesized. Patients with this disorder generally have minimal symptoms despite complete absence of the most abundant serum protein. We report a family in which the proband presented with acute glomerulonephritis and was found to have underlying congenital analbuminemia. Consequently, the patient’s two older sisters were diagnosed with the same condition. Sequencing of the human serum albumin gene was performed, and a homozygous mutation in exon 3 was found in all three patients. Together with these three patients of Arab ethnicity, this mutation, known as Kayseri, is the most frequently described mutation in congenital analbuminemia. This article discusses clinical features and diagnostic challenges of this disorder, particularly in this case, where concomitant renal disease was present. There is no financial disclosure or conflict of interest for any of the authors.     

应用荧光多重聚合酶链反应法检测结直肠癌微卫星不稳定

目的建立一种敏感、稳定、高通量的结直肠癌微卫星不稳定(MSI)检测技术。方法105例散发性结直肠癌患者取其新鲜癌组织及正常肠黏膜,DNA提取,荧光多重聚合酶链反应(PCR)扩增5个微卫星位点,应用GeneScan方法分析PCR产物。结果105例结直肠癌患者26例(24.7%)存在微卫星不稳定,其中MSI-H 14例(13.3%),MSI-L 12例(11.4%),MSS 79例(75.3%)。D5S346、BAT26、BAT25、D17S250、D2S123突变率分别为5.6%、8.6%、10.5%、8.6%、10.5%。结论应用荧光多重PCR可以高通量检测结直肠癌微卫星不稳定,敏感性高,结果可靠,适合临床应用。     

聚合酶链反应-单链构象多态性分析在精子发生相关基因检测中的应用

用聚合酶链反应方法检测了染色体核型正常的２００例无精子症患者基因组ＤＮＡ中的ＤＹＳ１基因，发现８例有ＤＹＳ１的缺失。选择６０例ＤＹＳ１阳性患者进行聚合酶链反应 单链构象多态性分析，发现１例有多态性的改变，提示ＤＹＳ１的点突变亦与无精子症相关。认为，对于ＤＹＳ１阳性的无精子症患者有必要进行聚合酶链反应 单链ＤＮＡ多态性分析。     

Peculiar renal endarteritis in a patient with acute endocapillary proliferative glomerulonephritis

Acute glomerulonephritis (AGN) is one of the most common renal diseases. They are often associated with infections and can result in diffuse proliferative glomerulonephritis (GN). This case report reviews an interesting case in which renal endarteritis coexisted in AGN with diffuse endocapillary proliferation. The discussion highlights important pathological findings and clinical aspects in acute endocapillary proliferative GN with renal endarteritis. Coexisting endarteritis should be in the differential diagnosis of AGN in patients with persistent clinical courses.     

Anti-neutrophil cytoplasmic antibody associated glomerulonephritis in a patient with Down's syndrome

A 9-year-old boy with Down's syndrome developed a glomerulonephritis associated with crescents and anti-neutrophil cytoplasmic antibodies (ANCA). The patient also had type 1 diabetes mellitus, chronic lymphocytic thyroiditis, and bronchial asthma. Prednisone therapy resulted in an improvement in renal function and a reduction in ANCA titers.     

Parvovirus glomerulonephritis in a patient with sickle cell disease

 A child with sickle cell disease developed glomerulonephritis 10 days following an aplastic crisis induced by human parvovirus B 19 infection. An initial kidney biopsy showed focal proliferative glomerulonephritis, and 1 year later was compatible with focal and segmental glomerulosclerosis. Renal tissue, tested by polymerase chain reaction, was positive for parvovirus, while the patient’s blood was negative. For the first time a direct relationship has been demonstrated between parvovirus infection and glomerulonephritis. Received: 2 September 1997 / Revised: 13 July 1998 / Accepted: 16 July 1998     

PCR－SSP快速HLA－DR2、DR7、DR9基因配型研究

采用顺序特异性引物聚合酶链式反应（ＰＣＲ－ＳＳＰ）ＤＮＡ分型技术，首次对３５例肾移植供受者和４份标准ＤＮＡ进行ＨＬＡ－ＤＲ２、ＤＲ７、ＤＲ９基因配型。ＰＣＲ扩增条件为９４℃变性３０秒，６０℃退火５０秒，７２℃延伸４０秒，５个循环后降低退火温度至５８℃共３４个循环，即可在凝胶电泳上出现清晰可辨的特异性产物和阳性对照条带。经分子量标志初步鉴定，标准ＤＮＡ和地高辛标记的特异性探针Ｓｏｕｔｈｅｒｎ杂交确定性鉴定证实。实验结果稳定可靠，特异性和重复性达１００％，无假阳性和假阴性，耗时５小时。显示ＰＣＲ－ＳＳＰ基因配型具有高分辨度、高特异性和简捷快速的特点，适合于临床应用．     

阿奇霉素治疗小儿肺炎支原体感染的临床疗效观察

目的：探讨阿奇霉素治疗小儿肺炎支原体感染的临床疗效,为其临床治疗提供可参考依据。方法共纳入82例入住我院诊断为肺炎支原体感染的患儿作为研究对象,采用随机数字法平均分为观察组与对照组,观察组患儿给予阿奇霉素治疗,对照组给予罗红霉素治疗,对两组患儿的住院时间、临床疗效等进行比较。结果观察组治疗总有效率明显优于对照组,总有效率分别为97.6％及85.3％,差异有统计学意义（P ＜0.05）;且观察组住院时间明显低于对照组,差异有统计学意义（P ＜0.05）。观察组出现恶心、呕吐的例数明显低于对照组,差异有统计学意义（P ＜0.05）。结论阿奇霉素治疗小儿肺炎支原体感染有较好的临床疗效,可以更好的改善患者的症状,同时安全性较高,值得临床推广应用。     

Immune complex-type glomerulonephritis with unusual giant deposits in a patient with active rheumatoid arthritis

A 61-year-old woman with rheumatoid arthritis (RA) developed small digital ulcers, proteinuria, and hematuria. Serological studies disclosed high titers of antinuclear antibody and rheumatoid factors (RF; IgM-RF and IgG-RF), and an increased level of circulating immune complexes. These findings suggested an active immunological state of RA. A renal biopsy showed periodic acid-Schiff-positive giant deposits in the mesangial area and subepithelial space. Immunofluorescence microscopy revealed strong stainings for IgG, IgA, IgM, , , C3, C1q, and fibrinogen in a granular pattern. Electron microscopy showed giant granular deposits (diameter, up to 4.6µm) without specific fibrillary structure in the mesangial area and subepithelial space, and partially in the subendothelial space. There were no findings of vasculitis, such as endothelial proliferation or fibrinoid necrosis of small arteries. This is the first report of immune complex-type glomerulonephritis with unusual giant deposits in a patient with RA in an active immunological state.     

改良聚合酶链反应法快速诊断常染色体显性遗传型多囊肾病

目的：检测微小卫星体ＳＭ７快速诊断常染色体显性遗传型多囊肾病（ＡＤＰＫＤ）。方法应用改良二温式聚合酶链反应（ＰＣＲ）法扩增与ＰＫＤ１位点紧密连锁的微小卫星体ＳＭ７,并对１０个家系进行基因连锁分析。结果在１０个家系１０３个家庭成员中,２９例先证者,９例无症状者通过基因连锁分析得到确诊,结论改良二温式ＰＣＲ法检测微小卫星体ＳＭ７可早期快速诊断ＡＤＰＫＤ。     

聚合酶链反应对胆囊癌组织中细菌DNA片段的检测研究

目的　研究胆囊癌组织及相应胆汁中的细菌菌谱,以探讨胆囊癌的发生与细菌感染的关系。方法　采用聚合酶链反应（ＰＣＲ） ,对３７ 例胆囊癌组织标本及９ 例相应胆汁中的细菌ＤＮＡ 片段进行分子生物学扩增。结果　３７ 例胆囊癌组织标本中细菌ＤＮＡ 片段检出率为７８－３７％ （２９／３７）,９ 例相应胆汁中细菌ＤＮＡ检出率为７７－８％ （７／９）。结论　胆囊粘膜癌变可能与厌氧菌尤其是产气荚膜梭菌感染存在联系,厌氧菌与需氧菌协同作用,长期刺激胆囊粘膜可能是引起癌变的主要因素。     

肾移植受者外周血单个核细胞中miR-29与急性排斥反应的相关性研究

目的 了解肾移植受者外周血单个核细胞(P BMC)中的微小RNA(miRNA)-29 (miR-29)家族分子在急性排斥反应(AR)发生及恢复后的变化.方法 15例肾移植后发生AR的受者,分别在AR发生时(AR组)和恢复后(恢复组)采集外周血,提取PBMC的总RNA,共采集30个样本.用实时荧光定量聚合酶链反应方法分别对miR-29a、miR-29b和miR-29c的表达水平进行相对定量.通过PicTar和TargetScan预测miR-29调控的靶基因,再通过组织特异性数据库,对血液中miRNA靶基因进行筛查过滤.对miR-29对应的靶基因进行基因本体论(GO)和京都基因与基因组百科全书(KEGG)通路分析,得到miR-29可能的生物学过程和作用通路.结果 miR-29a和-29c在恢复组的表达水平明显高于AR组(P＜0.05),而两组miR-29b的表达的差异无统计学意义(P＞0.05).GO中,有14个生物学过程在预测的靶基因中被有意义的富集(P＜0.05);在KEGG中,3条途径被有效富集(P＜0.05).结论 miR-29通过调控代谢、生物学合成等生物学过程和(或)黏着斑通路等影响AR的恢复.受者PBMC中miR-29的检测未来可能会成为判断AR后移植肾转归的微创检测方法.     

儿童肺炎支原体感染状况临床分析

目的总结商丘市儿童肺炎支原体（MP）的感染状况,检测血清抗-MP的阳性率。方法采用酶联免疫吸附法对1217例患儿的血清进行MP IgM、IgG抗体检测。结果1217例患儿中MP IgM抗体的比率为19.88%（242/1217）,IgG抗体阳性率为16.76%（204/1217）,MP IgM和IgG抗体均为阳性的比率为12.65%（154/1217）。＜1岁、1～3岁、3～6岁和＞6岁年龄组MP IgM抗体阳性率分别为14.46%（35/354）、21.07%（51/411）、23.14%（56/236）和41.32%（100/216）;MP IgG抗体阳性率分别为15.20%（31/354）、33.33%（68/411）、23.04%（47/236）和28.43%（58/216）;MP IgM和IgG抗体同时阳性的阳性率分别为17.53%（27/354）、26.62%（41/411）、29.87%（46/236）和25.97%（40/216）。不同性别之间抗-MP阳性率差异无统计学意义（χ2=0.004;P=0.948）;春、冬两季较夏、秋两季的抗-MP阳性率高,差异具有统计学意义（χ2=133.073;P=0.000）。结论 MP是儿童肺部感染的主要病原体之一,应引起高度重视。肺炎支原体的检测根据病情合理选取标本,且其感染率与患儿年龄无关。     

Membranous glomerulonephritis in a patient with unilateral renal agenesis

Secondary membranous glomerulonephritis (MGN) is usually caused by drugs or systemic disorders that produce circulating immune complexes. However, some disorders that did not seem to form circulating immune complexes have been listed as underlying diseases of secondary MGN. The case of a 13-year-old boy with MGN and unilateral renal agenesis is presented. Renal histology showed segmental MGN with mesangial proliferation and mesangial electron-dense deposits, and no other underlying disorder except for unilateral renal agenesis. Patients with MGN, who have histological findings suggesting secondary MGN and no underlying disorder distinctly causing formation of circulating immune complexes, should not be defined as having idiopathic or secondary forms, but as having a 'cryptogenic' form.     

IgA glomerulonephritis in a patient with renal cell carcinoma

A case of IgA glomerulonephritis associated with renal cell carcinoma is reported. A 61-year-old male was admitted because of a left renal mass and proteinuria. A diagnosis of renal cell carcinoma was made by computed tomography and angiography. Left radical nephrectomy was performed. Microscopically, the tumor tissue revealed renal cell carcinoma of the clear cell type. Light, immunofluorescent and electron microscopic examinations demonstrated characteristic features of IgA glomerulonephritis. The proteinuria and hematuria disappeared 8 months after removal of the tumor. These findings suggest that the IgA glomerulonephritis in our patient may have been attributable to an immune response against the renal cell carcinoma.     

新月体肾炎患者肾组织中浸润细胞的分布特点及临床意义

目的研究肾组织各种浸润细胞在新月体肾炎的发病机制中的作用。方法分析５６例各类月体肾炎患者肾组织中ＣＤ６８＋及ＰＣＮＡ＋细胞在各类新月体肾炎患者肾组织中的分布特点,并就它们与肾组织中ＣＤ＾＋及ＣＤ８＋细胞浸润的关系进行分析探讨。结果本组新月体肾炎患者肾组织中ＣＤ６８＋、ＰＣＮＡ＾＋、ＣＤ４＋及ＣＤ８＋细胞均明显高于正常供肾组织。在Ⅰ型新月体肾炎患者肾组织中ＣＤ６８＾＋及ＰＣＮＡ＋细胞数高于Ⅱ型及Ⅲ型