Hydronephrosis and Ureteral Obstruction in Crohn’s Disease

Hydronephrosis and ureteral obstruction are rare sequelae of Crohn’s disease. Chronic obstruction can ultimately lead to dysfunction of the affected kidney, and atypical presenting symptoms create pitfalls in diagnosis. Few reviews in the literature focus on this process and are limited to isolated case reports and case reviews. We performed a PubMed search using such terms as “Hydronephrosis” AND “Crohn’s disease” AND/OR “ureteral obstruction.” References from selected papers were reviewed for relevance and used for information-gathering as well. Ureteral obstruction most commonly occurs on the right side, due to ileal involvement. Clinical diagnosis is difficult, as symptoms are notably not genitourinary in origin;rather they are more musculoskeletal in nature. Treatment centers on disease control and temporary drainage of the affected kidney. Though rare, hydronephrosis and ureteral obstruction may develop as a result of inflammatory bowel disease. Due to atypical presenting symptoms, a high clinical suspicion is needed to affirm the diagnosis and ensure proper treatment.

罕见抗-Di^(b)致严重胎儿新生儿溶血病的实验室检测与相关研究

目的对1例高频抗体导致的胎儿新生儿溶血病(hemolytic disease of the fetus and newborn,HDFN)进行检测、鉴定及配血。方法对患儿进行新生儿溶血试验,对母亲进行血清学意外抗体鉴定,并对母亲红细胞进行常见高频抗原鉴定;对检出抗体进行IgG分型检测,并用流式细胞术进行单核细胞体外吞噬致敏红细胞试验,以检测抗体相关的吞噬率;对患儿母亲、父亲及舅舅进行相关红细胞血型基因测序;利用稀释的母亲血浆和抗人球卡法,在献血者中进行大规模相合血液的筛选。结果产妇鉴定为Di(b-)稀有血型,产生了抗-Di b(效价512)并导致了严重的HDFN;抗-Di b亚型分型为IgG1和IgG2型,单核细胞体外吞噬效率为88.83%(74.7/84.09);产妇亲属中没有相合献血者,后续从5520名献血者中筛选到2例Di(b-)相合血液,患儿接收输血治疗后康复出院。后续在51334名献血者中筛查到17名Di(b-)献血者,该数据表明Di(b-)在广州地区献血者中的分布频率约为三千分之一(0.033%,17/51334)。结论综合利用血型血清学及分子生物学方法诊断了抗-Di b所致的严重HDFN,建立了1种有效大规模筛查Di(b-)稀有血型的方法并找到相合血液,为建立Di(b-)稀有血型库奠定了基础。

Diet therapy for inflammatory bowel diseases: The established and the new

Although patients with inflammatory bowel diseases(IBD) have a strong interest in dietary modifications as part of their therapeutic management, dietary advice plays only a minor part in published guidelines. The scientific literature shows that dietary factors might influence the risk of developing IBD, that dysbiosis induced by nutrition contributes to the pathogenesis of IBD, and that diet may serve as a symptomatic treatment for irritable bowel syndrome-like symptoms in IBD. The role of nutrition in IBD is underscored by the effect of various dietary therapies. In paediatric patients with Crohn's disease(CD) enteral nutrition(EN) reaches remission rates similar to steroids. In adult patients, however, EN is inferior to corticosteroids. EN is not effective in ulcerative colitis(UC). Total parenteral nutrition in IBD is not superior to steroids or EN. The use of specific probiotics in patients with IBD can be recommended only in special clinical situations. There is no evidence for efficacy of probiotics in CD. By contrast, studies in UC have shown a beneficial effect in selected patients. For patients with pouchitis, antibiotic treatment followed by probiotics, like VSL#3 or Lactobacillus GG, is effective. When probiotics are used, the risk of bacterial translocation and subsequent bacteremia has to be considered. More understanding of the normal intestinal microflora, and better characterization of probiotic strains at the phenotypic and genomic levels is needed as well as clarification of the mechanisms of action in different clinical settings. A FODMAP reduced diet may improve symptoms in IBD.

Epidemiological studies of migration and environmental risk factors in the inflammatory bowel diseases

Inflammatory bowel diseases(IBD)are idiopathic chronic diseases of the gastrointestinal tract well known to be associated with both genetic and environmental risk factors.Permissive genotypes may manifest into clinical phenotypes under certain environmental influences and these may be best studied from migratory studies.Exploring differences between first and second generation migrants may further highlight the contribution of environmental factors towards the development of IBD.There are few opportunities that have been offered so far.We aim to review the available migration studies on IBD,evaluate the known environmental factors associated with IBD,and explore modern migration patterns to identify new opportunities and candidate migrant groups in IBD migration research.

Inflammatory bowel disease and thromboembolism

Patients with inflammatory bowel disease (IBD) have an increased risk of vascular complications. Thromboembolic complications, both venous and arterial, are serious extraintestinal manifestations complicating the course of IBD and can lead to significant morbidity and mortality. Patients with IBD are more prone to thromboembolic complications and IBD per se is a risk factor for thromboembolic disease. Data suggest that thrombosis is a specific feature of IBD that can be involved in both the occurrence of thromboembolic events and the pathogenesis of the disease. The exact etiology for this special association between IBD and thromboembolism is as yet unknown, but it is thought that multiple acquired and inherited factors are interacting and producing the increased tendency for thrombosis in the local intestinal microvasculature, as well as in the systemic circulation. Clinicians’ awareness of the risks, and their ability to promptly diagnose and manage tromboembolic complications are of vital importance. In this review we discuss how thromboembolic disease is related to IBD, specifically focusing on: (1) the epidemiology and clinical features of thromboembolic complications in IBD; (2) the pathophysiology of thrombosis in IBD; and (3) strategies for the prevention and management of thromboembolic complications in IBD patients.

Nonalcoholic fatty liver disease and cardiovascular disease

Nonalcoholic fatty liver disease(NAFLD)and cardiovascular disease(CVD)are two diseases that are common in the general population.To date,many studies have been conducted and demonstrate a direct link between NAFLD and CVD,but the exact mechanisms for this complex relationship are not well established.A systematic search of the PubMed database revealed that several common mechanisms are involved in many of the local and systemic manifestations of NAFLD and lead to an increased cardiovascular risk.The possible mechanisms linking NAFLD and CVD include inflammation,oxidative stress,insulin resistance,ectopic adipose tissue distribution,dyslipidemia,endothelial dysfunction,and adiponectin,among others.The clinical implication is that patients with NAFLD are at an increased risk of CVD and should undergo periodic cardiovascular risk assessment.

Role of the gut microbiota in inflammatory bowel disease pathogenesis: What have we learnt in the past 10 years?

Our understanding of the microbial involvement in inflammatory bowel disease (IBD) pathogenesis has increased exponentially over the past decade. The development of newer molecular tools for the global assessment of the gut microbiome and the identification of nucleotide-binding oligomerization domain-containing protein 2 in 2001 and other susceptibility genes for Crohn’s disease in particular has led to better understanding of the aetiopathogenesis of IBD. The microbial studies have elaborated the normal composition of the gut microbiome and its perturbations in the setting of IBD. This altered microbiome or “dysbiosis” is a key player in the protracted course of inflammation in IBD. Numerous genome-wide association studies have identified further genes involved in gastrointestinal innate immunity (including polymorphisms in genes involved in autophagy: ATG16L1 and IGRM), which have helped elucidate the relationship of the local innate immunity with the adjacent luminal bacteria. These developments have also spurred the search for specific pathogens which may have a role in the metamorphosis of the gut microbiome from a symbiotic entity to a putative pathogenic one. Here we review advances in our understanding of microbial involvement in IBD pathogenesis over the past 10 years and offer insight into how this will shape our therapeutic management of the disease in the coming years.

Nonalcoholic fatty liver disease as a multi-systemic disease

Nonalcoholic fatty liver disease(NAFLD) is the most common cause of chronic liver disease. NAFLD includes a wide spectrum of liver conditions ranging from simple steatosis to nonalcoholic steatohepatitis and advanced hepatic fibrosis. NAFLD has been recognized as a hepatic manifestation of metabolic syndrome linked with insulin resistance. NAFLD should be considered not only a liver specific disease but also an early mediator of systemic diseases. Therefore, NAFLD is usually associated with cardiovascular disease, chronic kidney disease, type 2 diabetes, obesity, and dyslipidemia. NAFLD is highly prevalent in the general population and is associated with increased cardiovascular morbidity and mortality. The underlying mechanisms and pathogenesis of NAFLD with regard to other medical disorders are not yet fully understood. This review focuses on pathogenesis of NAFLD and its relation with other systemic diseases.

Prevention of post-operative recurrence of Crohn's disease

Endoscopic and clinical recurrence of Crohn’s disease (CD) is a common occurrence after surgical resection. Smokers, those with perforating disease, and those with myenteric plexitis are all at higher risk of recurrence. A number of medical therapies have been shown to reduce this risk in clinical trials. Metronidazole, thiopurines and anti-tumour necrosis factors (TNFs) are all effective in reducing the risk of endoscopic or clinical recurrence of CD. Since these are preventative agents, the benefits of prophylaxis need to be weighed-against the risk of adverse events from, and costs of, therapy. Patients who are high risk for post-operative recurrence should be considered for early medical prophylaxis with an anti-TNF. Patients who have few to no risk factors are likely best served by a three-month course of antibiotics followed by tailored therapy based on endoscopy at one year. Clinical recurrence rates are variable, and methods to stratify patients into high and low risk populations combined with prophylaxis tailored to endoscopic recurrence would be an effective strategy in treating these patients.

Oral manifestation in inflammatory bowel disease:A review

Inflammatory bowel diseases (IBDs), including Crohn’s disease (CD) and ulcerative colitis, not only affect the intestinal tract but also have an extraintestinal involvement within the oral cavity. These oral manifestations may assist in the diagnosis and the monitoring of disease activity, whilst ignoring them may lead to an inaccurate diagnosis and useless and expensive workups. Indurated tag-like lesions, cobblestoning, and mucogingivitis are the most common specific oral findings encountered in CD cases. Aphthous stomatitis and pyostomatitis vegetans are among non-specific oral manifestations of IBD. In differential diagnosis, side effects of drugs, infections, nutritional deficiencies, and other inflammatory conditions should also be considered. Treatment usually involves managing the underlying intestinal disease. In severe cases with local symptoms, topical and/or systemic steroids and immunosuppressive drugs might be used.

Disease Development Caused by Ascochyta rabiei on Chickpea Detached-Leaves in Petri Dishes

A study using detached-leaves aimed to improve selection method. The improving method was done by scoring both disease symptom and lesion size. The research was begun by selecting agar concentration and dose of conidia that could distinguish response of very susceptible or resistant chickpea genotype. The result was used to determine disease severity (DS) and disease incident (DI) of eight genotypes that were previously tested in the field. Results of the tested agar concentration and dose of conidia showed that 1.5% and 2% agar were good to determine susceptible or resistant genotype;while 1 × 105 or 5 × 104 conidia dose was suitable for inoculation. The formula of DS (no. of leaflets in category × category value/Total no. of leaflets ×10) × 100, and DI (no. leaflets with pycnidial lesions + no. leaflets with necrotic lesions)/Total no. of leaflets × 100 successfully measured genotype response. The lesions development on detached leaves of the susceptible cultivar (Lasseter) began as circular, pale-colored areas, extending to the area covered by the drop of inoculum, then became light brown and finally dark brown. However, the response of resistant line (FLIP508) was restricted in area (and often confined to a tiny speck) surrounded by chlorosis or drying of the tissue.

Periodontal disease is associated with increased coronary heart disease risk:A meta-analysis based on 38 case-control studies

AIM: To investigate whether periodontal disease(PD) is associated with increasing coronary heart disease(CHD) risk by performing a meta-analysis.METHODS: Two authors independently searched Pub Med and China National Knowledge Infrastructure up to January 10 th, 2013 for relevant case-control studies that investigated the association between PD and CHD. After quality assessment using Newcastle-Ottawa Scale and data extraction by two independent authors, the overall and subgroup meta-analyses were performed and publication bias were examined using the Comprehensive Meta-Analysis V2 software. Potential publication bias was assessed using visual inspection of the funnel plots, Egger linear regression test, and trims and fill method.RESULTS: Finally 38 relevant case-control studies were identified, involving 4950 CHD patients and 5490 controls. Eleven studies were rated low quality and 27 were high quality. Based on random-effects, a significant association was identified between PD and CHD(OR 3.79, 95%CI: 2.23-6.43, P < 0.001, I2 = 98.59%), and sensitivity analysis showed that this result was robust. Subgroup analyses according to adjusted/unadjusted ORs, source of control, methodological quality, end point, assessment of PD/CHD, and ethnicity also indicated a significant association. Publication bias was detected, and the estimated OR including the "missing" studies did not substantially differ from our estimate with adjustment for missing studies(OR 4.15, 95%CI: 2.62-6.54, P < 0.001).CONCLUSION: Based on the meta-analysis, PD is probably associated with CHD risk independently and significantly.

Temporal trends in inflammatory bowel disease publications over a 19-years period

AIM: To determine whether temporal changes occurred in the pediatric vs adult inflammatory bowel disease(IBD), both in terms of number and type of yearly published articles.METHODS:We aimed to evaluate all Pub Med-registered articles related to the field of IBD from January1,1993 and until December 31,2011.We searched for articles using the key words"inflammatory bowel disease"or"Crohn’s disease"or"ulcerative colitis"or"undetermined colitis",using the age filters of"child"or"adult".We repeated the search according to the total number per year of articles per type of article,for each year of the specified period.We studied randomized controlled trials,clinical trials,case reports,meta-analyses,letters to the editor,reviews,systematic reviews,practice guidelines,and editorials.RESULTS:We identified 44645 articles over the 19year-period.There were 8687 pediatric-tagged articles vs 19750 adult-tagged articles.Thus 16208 articles were unaccounted and not assigned a"pediatric"or"adult"tag by Pub Med.There was an approximately3-fold significant increase in all articles recorded both in pediatric and adult articles.This significant increase was true for nearly every category of article but the number of clinical trials,meta-analysis,and randomized controlled trials increased proportionally more than the number of"lower quality"articles such as editorials or letters to the editor.Very few guidelines were published every year.CONCLUSION:There is a yearly linear increase in publications related to IBD.Relatively,there are more and more clinical trials and higher quality articles.

Green tea polyphenols alleviate di-(2-ethylhexyl)phthalate-induced liver injury in mice

BACKGROUND Di(2-ethylhexyl)phthalate(DEHP)is a common plasticizer known to cause liver injury.Green tea is reported to exert therapeutic effects on heavy metal exposureinduced organ damage.However,limited studies have examined the therapeutic effects of green tea polyphenols(GTPs)on DEHP-induced liver damage.AIM To evaluate the molecular mechanism underlying the therapeutic effects of GTPs on DEHP-induced liver damage.METHODS C57BL/6J mice were divided into the following five groups:Control,model[DEHP(1500 mg/kg bodyweight)],treatment[DEHP(1500 mg/kg bodyweight)+GTP(70 mg/kg bodyweight),oil,and GTP(70 mg/kg bodyweight)]groups.After 8 wk,the liver function,blood lipid profile,and liver histopathology were examined.Differentially expressed micro RNAs(miRNAs)and mRNAs in the liver tissues were examined using high-throughput sequencing.Additionally,functional enrichment analysis and immune infiltration prediction were performed.The miRNA-mRNA regulatory axis was elucidated using the starBase database.Protein expression was evaluated using immunohistochemistry.RESULTS GTPs alleviated DHEP-induced liver dysfunction,blood lipid dysregulation,fatty liver disease,liver fibrosis,and mitochondrial and endoplasmic reticulum lesions in mice.The infiltration of macrophages,mast cells,and natural killer cells varied between the model and treatment groups.mmu-miR-141-3p(a differentially expressed miRNA),Zcchc24(a differentially expressed mRNA),and Zcchc24(a differentially expressed protein)constituted the miRNA-mRNA-protein regulatory axis involved in mediating the therapeutic effects of GTPs on DEHP-induced liver damage in mice.CONCLUSION This study demonstrated that GTPs mitigate DEHP-induced liver dysfunction,blood lipid dysregulation,fatty liver disease,and partial liver fibrosis,and regulate immune cell infiltration.Additionally,an important miRNAmRNA-protein molecular regulatory axis involved in mediating the therapeutic effects of GTPs on DEHP-induced liver damage was elucidated.

CTCA定量参数对冠心病患者短期病死预测价值

目的探讨CT冠状动脉造影(CTCA)定量参数对冠心病患者短期病死预测价值。方法选取2021年3月—2023年3月收治的冠心病200例,比较不同冠状动脉病变程度冠心病患者CTCA定量参数(动脉阻力指数、总斑块负荷和斑块最小密度CT值),分析CTCA定量参数与冠心病患者冠状动脉病变程度相关性,探讨术后1年冠心病患者病死情况,分析CTCA定量参数与冠心病患者短期病死风险关联性,评价CTCA定量参数对冠心病患者短期病死预测价值。结果不同冠状动脉病变程度冠心病患者动脉阻力指数、总斑块负荷逐渐升高,斑块最小密度CT值逐渐降低(P<0.05)。冠心病患者动脉阻力指数、总斑块负荷与疾病类型、病变支数及狭窄程度呈正相关,斑块最小密度CT值与疾病类型、病变支数及狭窄程度呈负相关(P<0.05)。冠心病200例中39例(19.50%)术后1年病死。动脉阻力指数、总斑块负荷和斑块最小密度CT值与冠心病患者短期病死有关(P<0.01)。对冠心病患者短期病死预测的受试者工作特征曲线下面积动脉阻力指数、总斑块负荷和斑块最小密度CT值三者联合明显高于单独预测(P<0.05)。结论CTCA定量参数与冠心病患者冠状动脉病变程度密切相关,且联合各参数预测冠心病患者短期病死价值较高。

输尿管结石体外冲击波碎石术患者疾病认知水平及其影响因素分析

目的分析输尿管结石体外冲击波碎石术患者疾病认知水平及其影响因素。方法选取行输尿管结石体外冲击波碎石术的230例患者作为研究对象进行调查。调查患者一般资料、疾病认知水平,分析影响输尿管结石体外冲击波碎石术患者疾病认知水平的因素。结果230例患者平均疾病认知水平得分为(65.49±18.68)分,患者既往获取疾病相关知识的途径主要以网络和电视为主,大多数患者希望通过护士宣教获得疾病相关知识。不同认知水平患者在年龄、文化程度、病程、职业、家庭月均收入和医疗费用支付方式上比较差异有统计学意义(P<0.05);logistics回归结果显示,年龄增加(OR=3.219)、病程>3年(OR=3.959)均为输尿管结石患者疾病认知水平为部分了解/不了解的影响因素,文化程度为大专及以上(OR=0.154)、职业为脑力劳动者(OR=0.260)、家庭月均收入>4000元(OR=0.211)均为输尿管结石患者疾病认知水平为部分了解/不了解的保护因素(P<0.05)。结论输尿管结石体外冲击波碎石术的大部分患者疾病认知水平还有待提升,未来干预须加强对低文化水平、低收入、高年龄及病程长患者的疾病认知教育。

高效液相色谱联合2,2′-二硫二吡啶衍生反应测定人血清不同类型游离巯基及其与冠心病的关系分析

游离巯基对于心血管疾病的诊断和治疗具有潜在的临床预示价值,本研究建立了一种基于2,2′-二硫二吡啶衍生反应的高效液相色谱测定人血清游离巯基的分析方法,能够同时获得人血清中总游离巯基(Total-SH)、小分子化合物形态游离巯基(LMM-SH)、蛋白质形态游离巯基(P-SH)三者的含量。选用Agilent Eclipse XDB-C18色谱柱(150 mm×4.6 mm,5μm),以0.1%甲酸水溶液-0.1%甲酸乙腈溶液为流动相,在1 mL/min的流速下进行梯度洗脱,5 min内可实现良好的色谱峰基线分离,其中2-硫代吡啶酮色谱峰代表血清样本中总游离巯基含量,吡啶二硫衍生物色谱峰代表小分子化合物形态游离巯基含量,二者差值为蛋白质形态游离巯基含量。本研究对衍生反应条件进行了优化,并进行了方法学验证,结果表明,该方法线性关系良好,相关系数≥0.9994,线性范围为31.25~1000μmol/L,Total-SH和LMM-SH的检出限分别为2.61μmol/L和0.50μmol/L,定量限分别为8.71μmol/L和1.67μmol/L;加标回收率为91.1%~106.0%,日内精密度和日间精密度为0.4%~9.1%。使用本方法测定了714名志愿者的血清样本,总游离巯基浓度为376.60~781.12μmol/L,平均浓度为555.62μmol/L;小分子化合物形态游离巯基的浓度为36.37~231.65μmol/L,平均浓度为82.34μmol/L;蛋白质游离巯基浓度为288.36~687.74μmol/L,平均浓度为473.27μmol/L。Spearman相关性检验分析发现,血清游离巯基浓度与冠心病严重程度及常见临床生化指标存在密切关联。本研究提供了一种简便可靠的血清游离巯基分析方法,探索了其与冠心病的关系,为冠心病风险相关标志物的研究提供了新的参考指标。

基于VSURF-CA的小麦条锈病高光谱病情指数估测模型

【目的】条锈病对小麦生长和产量造成严重威胁,为确保有效防控,精准监测尤为关键。利用遥感技术构建小麦条锈病估测模型,能快速、准确地估测病情指数(DI),为精准防控提供技术支持。【方法】利用ASD光谱仪获取小麦不同生育期(抽穗期、灌浆期和成熟期)高光谱数据,采用随机森林变量选择(VSURF)方法结合相关性分析(CA)对原始光谱(OR)和一阶微分光谱(FD)进行特征波段筛选。使用随机森林(RF)对比不同数据集的特征波段建模结果,确定模型效果最佳的特征集。随后借助偏最小二乘回归(PLSR)、极致梯度提升(XGBoost)以及反向传播神经网络(BPNN),对比特征集在不同算法中的建模效果。通过对比建模效果,确定针对全生育期小麦条锈病病情指数的最佳估测模型。为了验证特征集在不同生育期中的效果,利用特征集在3个生育期重新构建模型,并对比模型效果。【结果】对不同数据集进行特征筛选,并使用RF构建条锈病DI估测模型,通过比较模型效果,确定VSURF-CA-FD特征集(绿光范围的537 nm以及近红外范围的821和846nm)在RF模型中的估测效果最好。采用RF算法构建的模型表现出优异的精度,R^(2)为0.89,RMSE为12.34。这些特征波段在其他算法构建的模型中也展现出良好的精度:XGBoost模型的R^(2)为0.87,RMSE为13.15;BPNN模型的R^(2)为0.84,RMSE为15.19;PLSR模型的R^(2)为0.69,RMSE为20.92。使用不同生育期的冠层微分高光谱数据进行验证,利用VSURF-CA-FD特征集构建RF模型,对比模型发现在小麦生长的早期(抽穗期)R^(2)为0.54,RMSE为1.29,NRMSE为0.21,能满足估测病害的要求;小麦生长的中期(灌浆期),模型的R^(2)表现较好,R^(2)为0.66,RMSE为12.24,NRMSE为0.21;小麦生长晚期(成熟期),模型效果好于前两个时期,R^(2)为0.75,RMSE为10.77,NRMSE为0.15。【结论】使用VSURF-CA方法筛选出的特征波段,能构建出对小麦条锈病病情指数具有出色估测效果的RF模型。研究结果可为预测早期和中期条锈病病情指数提供有价值的思路和方法。

高通量红细胞血型基因分型的多重连接依赖的探针扩增技术在一例抗Di^a新生儿溶血病诊断中的应用

目的运用高通量红细胞血型基因的多重连接依赖的探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)辅助诊断一例罕见的由抗Di^a导致的严重核黄疸新生儿溶血病。方法运用传统的血型血清学方法对导致新生儿溶血病相关红细胞血型抗体进行鉴定,运用MLPA对患儿及其父母的超过40种红细胞血型抗原进行基因分型,对鉴定的抗体进行效价分析。结果血型血清学检测表明患儿体内含有针对某种低频抗原的抗体,MLPA基因分析结果提示母婴红细胞MNS血型系统及Diego血型系统抗原不匹配,可能存在抗N或抗Di^a,经进一步的血型血清学检测,证实母亲及患儿血清中存在抗Di^a,并且其母亲血清抗Di^a效价为1:32。结论抗Di^a可引起包括核黄疸在内的严重新生儿溶血病;高通量红细胞血型基因分型的MLPA技术能够协助并有效解决临床疑难样本稀有血型鉴定;针对国人的Di^a阳性的试剂红细胞应该常规应用于日常的抗体筛查工作中。

非典型完全型DiGeorge综合征1例临床及免疫学特征分析

目的探讨1例由22q11.2染色体微缺失导致非典型完全型Di George综合征的临床特征及免疫表型。方法收集2014年8月在重庆医科大学附属儿童医院就诊的1例非典型完全型Di George综合征患儿外周血标本,提取外周血单个核细胞(PBMC)及核酸,采用流式细胞术进行T、B细胞亚群检测,羧基荧光双乙酸钠琥珀酰亚胺酯(CFSE)标记法分析T细胞增殖功能,CDR3扫描谱型技术分析T细胞受体(TCR)多样性,定量PCR检测T细胞受体重排剪切环(TREC)含量。结果 T、B细胞亚群分析显示T细胞明显降低,初始T细胞<50个/mm3,总B细胞数量正常,记忆B细胞稍减低;CFSE增殖法提示患儿T细胞无增殖反应;TCR-Vβ亚家族表现为单克隆或寡克隆峰;定量PCR未检测到TREC含量。结论通过临床及免疫学分析,确诊1例非典型完全型Di George综合征患儿。Di George综合征临床与免疫学表型多变,其分型及临床诊断存在困难,常导致漏诊与延迟诊断,因此提高临床工作者对本病的认识对于早期诊断至关重要。