一氧化氮在先天性巨结肠肠粘膜和血中的改变

目的 通过测定肠粘膜和血中一氧化氮的改变,探讨先天性巨结肠病理生理变化和先天性巨结肠合上肠结膜炎的原因。方法 比色法测定２５例ＨＤ患者肠粘膜中一氧化氮合酶和手术前后血中ＮＯ含量。结果 （１）ＨＤ粘膜层中ＮＯＳ含量狭窄段组扩张段组低,２组间差异有显著性。（２）ＨＤ狭窄段粘膜层中ＮＯＳ含量较非ＨＤ粘膜层中ＮＯＳ含量低,２组间差异有显著性。（３）ＨＤ术前组较非ＨＤ组血中ＮＯ含量明显减低,２组间差异有显著     

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico

Background

Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase (PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (PTPSD) is characterized by hyperphenylalaninemia (HPA) and deficit in central monoamine neurotransmitters. We describe the clinical and mutational spectrum of five patients with PTPSD, from four unrelated Mexican families. All patients had symptomatic diagnosis and presented severe early neurological manifestations and HPA.

隐源性多灶性溃疡狭窄性小肠炎临床特征分析

目的　分析隐源性多灶性溃疡狭窄性小肠炎（CMUSE）临床特征,为临床诊治提供参考。方法　结合首都医科大学附属北京世纪坛医院2012年2月收治的1例CMUSE病例,检索中英文数据库,收集确诊或疑诊为CMUSE的个案报道,并对病例的一般资料、临床表现、实验室检查、影像学检查、内镜检查、病理检查、治疗方法与转归进行总结分析。结果　共收集22例患者,确诊18例,疑诊4例;男10例,女12例;中位年龄为32岁,自发病至确诊的中位时间为3年。常见的临床表现有腹痛（20例）,腹胀（10例）,恶心、呕吐（8例）,便血、黑便（7例）等;实验室检查低清蛋白血症12例,便隐血试验阳性11例;11例行小肠镜检查,9例行胶囊内镜检查,8例行小肠气钡双重对比造影,均可见阳性改变;12例行手术治疗,7例术后复发;12例行糖皮质激素治疗,8例病情缓解,4例无效;1例英夫利昔单抗治疗有效。结论　CMUSE是一种罕见的、病因不明的疾病,小肠多发浅表溃疡和肠腔狭窄是其典型表现。胶囊内镜、双气囊小肠镜对该疾病的诊断有重要意义,激素为其一线治疗,内镜下球囊扩张术开始用于治疗,其他治疗有营养支持、外科手术等。     

细菌性痢疾并发伪膜性肠炎五例临床分析

细菌性痢疾是由志贺菌属引起的以发热、腹痛、腹泻、排黏液脓血便、里急后重等为主要症状的急性肠道传染病,以喹诺酮类、氨基糖苷类及β-内酰胺类抗生素治疗为主。伪膜性肠炎是抗生素相关性腹泻的一种特殊类型,主要表现为腹泻、腹胀、腹痛和发热。两者临床表现非常相似,临床上易误诊或漏诊,如不尽早诊断并及时治疗,后果严重。现将我院腹泻门诊收集的5例细菌性痢疾并发伪膜性肠炎报道如下。     

新生儿坏死性小肠结肠炎危险因素的Meta分析

目的系统评价新生儿坏死性小肠结肠炎的危险因素,为制订预防措施提供循证依据。方法电子检索MEDLINE(1980年第1期至2009年第7期)、EMBASE(1980年第1期至2009年第7期)、Cochrane图书馆(2009年第3期)和中国期刊全文数据库(1994年第1期至2009年第7期)、中文科技期刊全文数据库(1989年第1期至2009年第7期)、中国生物医学文献数据库(1978年第1期至2009年第7期),并手工检索相关杂志。纳入相关的病例对照研究,采用RevMan5.0软件和Stata软件进行Meta分析。结果共纳入14篇相关文献,均为病例对照研究,其中中文1篇,英文13篇,累计病例624例,对照2340例。结论本研究显示预防新生儿呼吸窘迫综合征和败血症有助于降低新生儿坏死性小肠结肠炎的发生率。     

老年难辨梭菌性结肠炎患者八例临床分析

目的　探讨老年患者使用广谱抗生素诱发难辨梭菌性结肠炎的临床特点、内镜下改变及防治措施。　方法　分析８例老年难辨梭菌性结肠炎患者的临床资料,对难辨梭菌分离、鉴定,并行细胞毒素测定。　结果　所用抗生素的种类繁多,在使用抗生素后３ 天至２周内发生腹泻,重者伴腹膜炎,４ 例行纤维结肠镜检查均见有小片至大斑片伪膜附着;治疗措施为停用原抗菌药物,应用万古霉素和（或）甲硝唑及加强支持疗法。８ 例中７例治愈,１例死亡。　结论　老年人特别是术后使用广谱抗生素者易诱发难辨梭菌性结肠炎     

肠三叶因子对新生鼠NEC模型PI3K和caspase-3/9的影响

Objective To study the effects of ITF on PI3K (phosphatidylinositol 3-kinase) and caspases-3/9 (cysteinyl aspartate-specific protea-ses) in neonatal rat NEC model. Methods NEC model of neonatal rats was established. Asphyxia stress was accomplished by exposure to l00% nitrogen for 60s, followed by exposure to coldness (4 ℃ ) for 10 min twice daily. Neonatal rats were fed formula (200 kcal/kg/day) every 3 h via an gavage tube. The feeding volume began at 0. 1 cc every 3 h and was increased incrementally. This procedure is done once everyday and continued for 3 days. On the 4th day,all the subjects were sacrificed. Fifty neonatal rats were randomized into five groups: A) NEC + NS0. 2mi, (B) NEC + ITF 0. 2 mg, (C) NEC(Wortmannin (0. 1 mg/kg) (D) NEC + ITF 0. 2 mg + Wortmannin (0. 1 mg/kg), (E) control. The intestinal tissue located at the boundary of ileum and cecum was sampled for histology. The remaining intestinal tissue was homogenized. After the homogenate was centrifuged,supernatants were used to assay PI3K and Caspase-3 and caspase-9. Results The pathological lesions showed that intestinal necrosis was severe in group A、C and D, which was graded as 3points. They were significantly decreased in group B,which was graded 1 point. The level of PI3K(pg/ml)in Group A was higher than those in group E (P<0. 05), the latter had difference with those in group D(P>0. 05). The level of PI3K(pg/ml) were the strongest in group B and were lowest in group C. The activity of Caspase-3 and Caspase-9 were significantly increased in group A compared to those in group B and E (P<0. 01 ),and was significantly increased in Group C(P<0. 01 ). Caspase-3 and Caspase-9 levels of group A and D,group B and E showed no significant difference(P>0. 05). Conclusions Intestinal inflammation was ameliorated by intraperitoneal ITF. ITF may provide a new therapy for NEC; PI3K/Akt signal pathways might play important roles in signal transduction during NEC;ITF may protect the intestinal injury of neonatal Wistar rat by activation of PI3K/Akt signal transduction pathway, and down regulation of caspase-9.     

IBD and IBD mimicking enterocolitis in children younger than 2 years of age

Inflammatory bowel disease (IBD) is uncommon in children younger than 2 years of age. The criteria for differentiating IBD from other diseases with similar clinical presentation is unclear. We describe 16 patients who, between 1984 and 2004, received a histological diagnosis of IBD during the first two years of life. Six patients presented with histological Crohn’s disease, eight with ulcerative colitis and two with indeterminate colitis. The median age at diagnosis was 125 days (range 1 day to 18 months) and the medium follow up was 89 months (range 65 days to 20 years). The disease appeared to be very severe: four children (25%) underwent total parenteral nutrition (TPN), two received colectomy (12.5%) and three patients died. Many of the patients required an aggressive, multidrug, immunosuppressive approach (azathioprine [AZA], Infliximab, thalidomide, cyclosporine A). One child presented with a hypogammaglobulinaemia without any specific immunodeficiency, while in the other patients, Wiskott-Aldrich syndrome (WAS) (4 cases) and chronic granulomatous disease (CGD) (2 cases) were identified. In 6/16 cases, allergic colitis was first considered; these cases initially underwent cow’s milk protein-free diet as the only therapy before IBD was finally diagnosed. In conclusion, early IBD has a severe prognosis and often needs an aggressive therapeutic approach. Furthermore, an improper diagnosis of allergic colitis might cause an important diagnostic delay. Some severe immunodeficiencies, such as WAS and CGD, may represent a problem in terms of differential diagnosis and might be wrongly diagnosed as very early onset IBD.     

An ironic case of liver infections:Yersinia enterocolitis in the setting of thalassemia

A 49 years old Vietnamese male with a history of thalassemia,presented with gastrointestinal symptoms and signs of hemolysis.He was diagnosed with yersinia enterocolitis.Yersinia is a gram-negative rod that most frequently occurs in children especially during the winter months.In the current case,the bone marrow biopsy showed hemophagocytosis along with positive cultures for Yersinia.The microorganism likely triggered hemophagocytosis.This syndrome,also known as,hemophagocytic lymphohistiocytosis,is defined by fever for more than 7 d,cytopenia of two or more cell lines,hemophagocytosis,hepatitis,serum ferritin greater than500,jaundice,lymphadenopathy,and hepatosplenomegaly.This disorder can be either familial or secondary to a strong immunologic activation.Both have an overwhelming activation of T-cells and macrophages.     

预防新生儿坏死性小肠结肠炎喂养方式的研究进展

新生儿坏死性小肠结肠炎(NEC)是导致早产儿死亡的主要疾病之一。目前临床一致认为,早产儿的喂养方式,包括乳类选择、开奶时间、增加奶量方式等,对新生儿NEC发病及复发影响较大,但临床对于预防新生儿NEC发生的标准喂养方式,迄今尚未达成共识。笔者拟就预防新生儿NEC喂养方式的研究进展进行综述,为进一步研究预防新生儿NEC的喂养方式提供参考依据。