DENND1B基因多态性与儿童哮喘关系的研究

目的探讨DENND1B基因多态性在儿童哮喘患者中的分布及其与患者血清IgE水平的关系。方法选取哮喘儿童296例(哮喘组),同期健康体检儿童225例(健康对照组),同时提取外周血基因组DNA,通过高温连接酶检测法(PCR-LDR)检测DENND1B基因rs1747815、rs1775444、rs1775456位点的基因型。采用免疫散射比浊法检测样本血清总IgE水平。结果 rs1747815位点3组基因型(GG/GA/AA)及rs1775456位点3组基因型(AA/GA/GG)在健康对照组与哮喘组分布频率差异无统计学意义(P>0.05)。rs1775444位点3组基因型(CC/TC/TT)在健康对照组与哮喘组分布频率差异有统计学意义(P<0.05),其中,哮喘组3种基因型患者中血清IgE水平差异均无统计学意义(P>0.05)。结论 DENND1B基因多态性与儿童哮喘有一定相关性,但与哮喘患者血清IgE水平无相关性。     

β-珠蛋白生成障碍性贫血患者血红蛋白F表达与BCL11A基因rs11886868位点单核苷酸多态性的关系

本研究通过分析β-珠蛋白生成障碍性贫血患者的血红蛋白F(HbF)表达及BCL11A基因rs11886868位点的单核苷酸多态性,探讨二者之间的关系。选取89例已知基因突变类型的轻型β-珠蛋白生成障碍性贫血患者,通过毛细管电泳分析患者的红细胞HbF含量;提取患者基因组DNA,通过聚合酶链反应扩增含rs11886868位点的BCL11A基因片段,用DNA测序法确定rs11886868位点的单核苷酸多态性。结果显示,在89例深圳地区β-珠蛋白生成障碍性贫血患者的BCL11A基因rs11886868位点中发现C和T两种单核苷酸多态性;携带C/C单倍型患者的红细胞HbF含量为(4.47±3.42)%,高于携带C/T单倍型患者的(2.79±2.21)%。结论:β-珠蛋白生成障碍性贫血患者BCL11A基因rs11886868位点存在C和T两种单核苷酸多态性,其中C多态性可能与红细胞内HbF高表达存在相关性。     

C反应蛋白基因型与慢性牙周炎和冠心病相关性研究

目的:探讨CRP基因(+1059G>C rs1800947,+1444C>T rs1130864)的基因型、单倍型与慢性牙周炎、冠心病、慢性牙周炎伴冠心病易感性的关系.方法:中重度慢性牙周炎患者100例(CP组)、冠心痛患者98例(CHD组)、中重度慢性牙周炎伴冠心痛患者92例(CP伴CHD组)与125例健康对照者(对照组)的颊黏膜拭子,提取DNA,采用聚合酶链反应-限制性片段长度多态性法对+1059G>C rs1800947,+1444C>T rs1130864位点的基因分型,及对PC伴CHD组和对照组测序检测2个多态性位点单倍型.结果:CRP多态性位点rs1800947和rs1130864的等位基因在各组间差异无统计学意义(P>0.05).2个多态性位点的等位基因在CP伴CHD组差异有扩大的趋势.CRP基因位点(rs1800947,rs1130864)的单倍型GT在CP伴CHD组和对照组间比较差异有统计学意义(P<0.05).结论:单倍型GT可能是冠心病与慢性牙周炎的易感基因.     

贵州地区57例遗传性持续性胎儿血红蛋白增高症遗传因素分析

目的探讨遗传性持续性胎儿血红蛋白增高症(HPFH)患者存在的珠蛋白基因突变类型及相关单核苷酸多态性(SNP)位点的基因型,分析HPFH中血红蛋白F(HbF)水平升高的分子机制。方法收集HPFH标本,提取全血基因组DNA,采用Gap-PCR检测常见缺失型HPFH;采用PCR扩增与HbF水平升高相关的SNP位点,Sanger测序进行基因分型检测。结果57份HPFH标本中,缺失型HPFH复合β珠蛋白生成障碍性贫血2份(均为SEA-HPFH/CD17);在非缺失型HPFH标本和对照标本中,rs4671393、rs3817621位点基因型分布比较,差异有统计学意义(P<0.05),rs7482144、rs4527238、rs28384513、rs9399137、rs2072597、rs117351327、rs10128556等SNP位点基因型分布比较,差异无统计学意义(P>0.05)。结论SEA-HPFH/CD17、BCL11A基因rs4671393和KLF1基因rs3817621位点多态性可能是导致HPFH发生的遗传因素之一。     

SLC30A8基因多态性与肾移植后糖尿病的相关性*☆

背景：前期研究已经发现,2型糖尿病的易感基因脂联素基因、钙蛋白酶10基因等与中国肾移植患者移植后糖尿病的发生显著相关。猜测其他2型糖尿病的易感基因是否也与移植后糖尿病相关。目的：分析锌转运蛋白-8(SLC30A8)基因多态性与移植后糖尿病的相关性。方法：采用实时荧光定量PCR法检测97例移植后糖尿病患者和301例未发生移植后糖尿病的肾移植患者(对照组)的SLC30A8 rs13266634的基因型,采用 logistic 回归分析该基因多态性与移植后糖尿病的相关性。结果与结论：移植后糖尿病组和对照组患者 rs13266634的等位基因频率和基因型分布差异具有显著性意义(P <0.05)。用性别、移植时年龄、体质量和体质量指数等危险因素进行校正后,CC基因型患者肾移植后发生移植后糖尿病的风险是TT基因型患者的2.108倍(OR=2.108,95%CI：1.075-4.131,P=0.044);CC+CT基因型患者肾移植后发生移植后糖尿病的风险是TT基因型患者的1.862倍(OR=1.862,95%CI：1.049-3.306, P=0.034)。提示SLC30A8基因rs13266634的C等位基因是肾移植后发生移植后糖尿病的独立危险因素。     

C反应蛋白基因型与慢性牙周炎和冠心病相关性研究

目的:探讨CRP基因(+1059G>C rs1800947,+1444C>T rs1130864)的基因型、单倍型与慢性牙周炎、冠心病、慢性牙周炎伴冠心病易感性的关系。方法:中重度慢性牙周炎患者100例(CP组)、冠心病患者98例(CHD组)、中重度慢性牙周炎伴冠心病患者92例(CP伴CHD组)与125例健康对照者(对照组)的颊黏膜拭子,提取DNA,采用聚合酶链反应-限制性片段长度多态性法对+1059G>C rs1800947,+1444C>T rs1130864位点的基因分型,及对PC伴CHD组和对照组测序检测2个多态性位点单倍型。结果:CRP多态性位点rs1800947和rs1130864的等位基因在各组间差异无统计学意义(P>0.05)。2个多态性位点的等位基因在CP伴CHD组差异有扩大的趋势。CRP基因位点(rs1800947,rs1130864)的单倍型GT在CP伴CHD组和对照组间比较差异有统计学意义(P<0.05)。结论:单倍型GT可能是冠心病与慢性牙周炎的易感基因。     

CD44基因rs13347位点多态性与乳腺癌发生及转移的相关性研究

目的通过探讨肿瘤相关基因CD44的基因多态性与乳腺癌发生的关系,发现乳腺癌致病基因或者遗传易感基因,为乳腺癌的基因筛查、诊断、治疗提供理论依据和技术支持。方法收集乳腺癌患者265例及健康女性样本290例,使用多重聚合酶链反应(PCR)扩增和二代测序技术对CD44rs11607862、rs13347、rs7116432、rs8193等4个位点进行基因多态性分析。对其中235例患者的肿瘤大小、是否转移进行结果比较。结果未发现该4个位点在乳腺癌患者中的表达与健康人有显著差异。但是在对肿瘤患者的分析中发现,rs13347位点GG基因型患者较CC/CG型患者,淋巴结转移率更低。结论 CD44的rs13347位点与乳腺癌的转移有一定相关性,rs11607862、rs7116432、rs8193等3个位点基因多态性与乳腺癌的发生、发展相关度还需要更多的临床样本及资料进一步研究。     

血栓调节蛋白基因多态性与肺栓塞的风险评估

目的 探讨血栓调节蛋白(TM)THBD基因rs1042579和rs3176123位点的单核苷酸多态性(SNP)与肺栓塞发生风险的相关性.方法 选取100例栓塞患者(肺栓塞组)及100例健康志愿者(对照组)作为研究对象,提取研究对象全血基因组DNA,对THBD基因上的两个SNP位点rs1042579和rs3176123进...     

汉族人群BCL11A基因内含子2表达调控相关区序列分析

目的对汉族人群B细胞淋巴瘤/白血病11A(BCL11A)基因内含子2表达调控相关区序列进行分析,探讨BCL11A基因内含子2中影响表达调控的DNA序列。方法收集225例健康汉族个体的外周血,抽提基因组DNA;通过PCR扩增BCL11A基因内含子2中与表达调控相关的DNA区域;DNA测序检测其序列。结果在健康汉族人群中,BCL11A基因内含子2中与表达调控相关的DNA区域内含两个多态性位点,即rs11886868位点C/T多态性和rs34211119位点del T多态性。rs11886868位点C和T的多态性频率分别为97.56%和2.44%,rs34211119位点del T的多态性频率为2.44%,且rs11886868位点T与rs34211119位点del T遗传共分离。结论 BCL11A基因内含子2的表达调控功能可能与rs11886868位点和rs34211119位点均相关。     

重要炎症介质基因多态性在不明原因复发性流产患者中的表达及与雌孕激素的相关性研究

目的探讨重要炎症介质基因多态性在不明原因复发性流产患者中的表达及与雌孕激素的相关性。方法前瞻性随机选取2016年8月至2018年8月商洛市商州区人民医院不明原因复发性流产患者170例作为研究组,另随机选取同期健康体检的至少2次成功妊娠且活产的非妊娠妇女170例作为对照组,统计分析两组妇女月经周期2~3 d的激素水平、各雌激素受体β基因SNP位点基因型频率、野生型、杂合型、纯合型血清激素水平,并分析两组妇女各位点的相关性。结果研究组患者月经周期2~3 d的血清LH水平显著高于对照组(P<0.05),但两组妇女月经周期2~3 d的血清FSH、E2水平之间的差异均无显著性(P>0.05)。两组妇女rs1256030、rs1256049、rs4986938位点基因型频率之间的差异均无显著性(P>0.05)。野生型、杂合型、纯合型rs1256030、rs1256049、rs4986938位点的血清FSH、LH、E2水平之间的差异均无显著性(P>0.05)。两组妇女rs1256030和rs4986938位点的多态性呈正相关关系(P<0.05),rs1256049和rs4986938位点的多态性之间呈负相关关系(P<0.05);研究组患者的rs1256049和rs4986938位点的多态性之间呈负相关关系(P<0.05),对照组妇女的rs1256030和rs4986938位点的多态性呈显著的正相关关系(P<0.05)。结论不明原因复发性流产雌激素受体β基因多态性三个位点具有一定的相关性,但三个位点多态性并不会对FSH、LH和E2的表达和分泌水平产生影响。     

Ruptured renal angiomyolipoma presenting as renal colic

The case of a patient with acute onset of flank pain and hematuria is presented. Initial therapy was directed toward relief of pain believed to be caused by renal colic. It was not until the patient developed atypical features that the true diagnosis, ruptured renal angiomyolipoma, was discovered. The case and discussion emphasize the need to carefully consider a complete differential diagnosis when evaluating patients with flank pain and hematuria who have atypical clinical features or an atypical course.     

Functional renal imaging: nonvascular renal disease

Functional renal imaging—a fast-growing field of MR-imaging—applies different sequence types to gather information about the kidneys other than morphology and angiography. This update article presents the current status of different functional imaging approaches and presents current and potential clinical applications. Apart from conventional in-phase and opposed-phase imaging, which already yields information about the tiusse composition, BOLD (blood-oxygenation level dependent) sequences, DWI (diffusion-weighted imaging) sequences, perfusion measurements, and dedicated contrast agents are used.     

Cortical renal leiomyoma with extension to renal pelvis

We describe a case of renal leiomyoma in a 21-year-old woman who presented with flank pain and hematuria. Urographic and computed tomographic (CT) studies revealed a large right renal mass with polypoid outgrowth protruding into the renal pelvis. Cortical renal leiomyoma with this radiographic manifestation is extremely rare.     

Epidemiology of renal recovery after acute renal failure

PURPOSE OF REVIEW: Recovery of renal function after acute renal failure is an important clinical determinant of patient morbidity. Herein, the epidemiology of renal recovery after acute renal failure will be described, along with potential predictive factors and interventions. RECENT FINDINGS: Renal recovery has been variably defined, most often as recovery to independence from renal replacement therapy. A recent consensus definition for acute renal failure has been published and included provisions for defining renal recovery. Renal recovery to renal replacement therapy independence occurs in the majority by hospital discharge and peaks by 90 days. All of older age, female sex, co-morbid illnesses, especially chronic kidney disease, and late initiation of renal replacement therapy or conventional intermittent renal replacement therapy have been coupled with non-recovery. Analysis of the literature suggests several interventions may influence recovery. SUMMARY: The prognosis is generally good for recovery after acute renal failure. Most patients will be independent of renal replacement therapy by 90 days. Additional research is necessary, however, to understand recovery rates not only to independence from renal replacement therapy, but also to complete and partial recovery. Future studies need to consider the health economic implications for survival and non-recovery. Finally, questions on the role of various interventions require characterization in randomized controlled trials to determine how they may influence renal prognosis.     

急性肾功能损伤与衰竭生物标志物

急性肾功能损伤（ARI）与急性肾功能衰竭（ARF）是加强医疗病房（ICU）的常见疾病．ICU中80％的ARF由急性肾小管损伤所致，而非肾小球或间质性病变引起。其死亡率较高，寻找敏感性和特异性较好的ARI或ARF生物标志物，对早期诊断、治疗和改善预后有着重要意义。本文介绍和评估了ARI或 ARF生物标志物的研究现状。并展望了其未来的前景。[第一段]     

Biomarkers of acute renal injury and renal failure

Acute renal failure (ARF) is a frequent problem in the intensive care unit and is associated with a high mortality. Early recognition could help clinical management, but current indices lack sufficient predictive value for ARF. Therefore, there might be a need for biomarkers in detecting renal tubular injury and/or dysfunction at an early stage before a decline in glomerular filtration rate is noted by an increased serum creatinine. A MEDLINE/PubMed search was performed, including all articles about biomarkers for ARF. All publication types, human and animal studies, or subsets were searched in English language. An extraction of relevant articles was made for the purpose of this narrative review. These biomarkers include tubular enzymes (alpha- and pi-glutathione S-transferase, N-acetyl-glucosaminidase, alkaline phosphatase, gamma-glutamyl transpeptidase, Ala-(Leu-Gly)-aminopeptidase, and fructose-1,6-biphosphatase), low-molecular weight urinary proteins (alpha1- and beta2-microglobulin, retinol-binding protein, adenosine deaminase-binding protein, and cystatin C), Na+/H+ exchanger, neutrophil gelatinase-associated lipocalin, cysteine-rich protein 61, kidney injury molecule 1, urinary interleukins/adhesion molecules, and markers of glomerular filtration such as proatrial natriuretic peptide (1-98) and cystatin C. These biomarkers, detected in urine or serum shortly after tubular injury, have been suggested to contribute to prediction of ARF and need for renal replacement therapy. However, excretion of these biomarkers may also increase after reversible and mild dysfunction and may not necessarily be associated with persistent or irreversible damage. Large prospective studies in human are needed to demonstrate an improved outcome of biomarker-driven management of the patient at risk for ARF.     

Cardiac enzymes, renal failure and renal transplantation

Diagnostic accuracy of the currently available serum markers of cardiac injury, such as myoglobin, creatine kinase and its myocardial isoform, are altered in patients with renal failure. It is shown that cardiac troponins have decreased diagnostic sensitivity and specificity in patients receiving renal replacement therapy. Data regarding serum levels of these cardiac biomarkers, especially those of the cardiac troponins, in patients with a transplanted kidney are limited. Current data show that levels of cardiac troponin I are unaltered in patients who have undergone renal transplantation, while levels of cardiac troponin T may be elevated.We believe that cardiac troponin I should be the biomarker of choice for diagnosis of myocardial injury in these patients. However, further trials are required for conclusive results.     

Preservation of renal function in chronic renal failure.

Mechanisms of progression of chronic renal failure (CRF) have been well documented in the rat but may not be relevant in man. Factors which may modify clinical CRF include underlying disease, diet, hypertension, intercurrent events, and adverse or beneficial effects of drug therapy. It has been argued that progression in many forms of renal disease is inexorable below a certain level of renal function. In other diseases, eg primary malignant hypertension, analgesic nephropathy, function frequently improves in both the short and long term with appropriate management. Thus knowledge of the nature of the underlying disease is essential in assessing progression. The value of diet in preserving renal function has been debated, particularly the relative roles of protein and phosphate control. In our own unit, a prospective randomized study showed a benefit of protein restriction. Development of accelerated hypertension is an important cause of progression of renal disease and clinical and experimental evidence supports the view that non-accelerated hypertension is also a factor in progression, amenable to treatment. Various intercurrent events may accelerate progression and function may be lost permanently following sepsis, urinary tract obstruction, renal arterial or venous obstruction, hypotension and in some cases pregnancy. Numerous drugs can have deleterious effects on the kidney. The possibility that converting enzyme inhibitors might preserve renal function is attracting attention but in view of their side effects their place in therapy should be determined by prospective controlled studies in which the above factors are carefully considered.