先天性肠闭锁／狭窄病变部位与预后关系的探讨

目的探讨特殊部位的肠闭锁／狭窄手术方法与预后的关系。方法回顾性分析本院自2006年6月至2011年6月收治的145例因肠闭锁／狭窄而行手术治疗的患儿临床资料,其中十二指肠闭锁／狭窄36例,空肠闭锁／狭窄46例,回肠闭锁／狭窄59例,结肠闭锁／狭窄4例。145例中,距屈氏韧带约20cm以内的肠闭锁／狭窄3l例,距回盲部20am以内的回肠闭锁／狭窄19例。结果总病死率为12．41％,术后并发症的总发生率为21．13％。距回盲部20cm以内的回肠闭锁／狭窄患儿术后并发症的发生率明显高于术后并发症的总发生率（P〈0．05）。结论末端回肠和结肠闭锁术后并发症的发生率高,先天性肠闭锁／狭窄的治疗强调围手术期的正确处理。     

儿童B细胞淋巴瘤细胞及分子遗传学异常与预后的关系

<正>儿童成熟B细胞淋巴瘤是一组高可治愈性的肿瘤,其病理亚型可分为以下几种:伯基特淋巴瘤(Burkitt Lymphoma,BL),伯基特样淋巴瘤(Burkitt-like Lymphoma,BLL)及弥漫大B细胞淋巴瘤(DiffuseLarge B-cell Lymphoma,DLBCL)[1]。细胞及分子生物学的研究表明,B细胞淋巴瘤均存在细胞及分子遗传学的异常[2-5],包括染色体易位、缺失、碱基突变等。     

儿童急性白血病Bcl-2、P53蛋白表达与疗效及预后的关系

目的　探讨儿童急性白血病Bcl 2、P5 3蛋白表达与化疗效果及预后的关系。方法　用SP免疫组化法对不同组骨髓细胞进行Bcl 2、P5 3蛋白检测。结果　Bcl 2、P5 3蛋白表达率在初治组与难治复发组均显著大于缓解组与对照组 (P <0 0 5 ,P <0 0 0 1) ;难治复发组Bcl 2、P5 3蛋白表达率显著高于初治组 (P <0 .0 5 ) ;Bcl 2蛋白表达率在初治组中急性非淋巴细胞白血病显著高于急性淋巴细胞白血病 ,而在难治复发组中无差异。在随访中 ,Bcl 2、P5 3蛋白同时阳性者 ,6周内均未缓解 ;两种蛋白均阴性者 ,缓解率达 10 0 % (P <0 .0 5 ) ,随访 3年 ,均持续完全缓解。结论　检测骨髓细胞Bcl 2、P5 3蛋白表达水平 ,可预测儿童急性白血病化疗效果及预后状态     

鼠双微体2、p16、p53蛋白表达与儿童非霍奇金淋巴瘤的关系

目的 探讨鼠双微体2（MDM2）、p16和p53蛋白表达与儿童非霍奇金淋巴瘤（NHL）的相关性。方法 用免疫组化S-P法，检测46例NHL（病例组）、12例淋巴结炎（对照组）病理组织MDM2、p16和p53蛋白表达。结果病例组MDM2、p16、p53阳性率分别为5．2％、32．6％、19．6％。MDM2阳性率与病理高度恶性、多位点淋巴结外侵犯、患者血清LDH增高均有显著差异（P均〈0．05），与患者的B状态（发热、盗汗、消瘦、体质量下降）间有非常显著差异（P均〈0．01）；p16阳性率与NHL患者的多位点淋巴结外侵犯、血清LDH增高呈负相关（P均〈0，05），与病理高度恶性、临床分期晚、B状态呈负相关（P均〈0．01）；p53阳性率与NHL病理分类及临床特征均无明显相关性（P均〉0．05）；MDM2和p16阳性表达问呈负相关。结论 NHL儿童MDM2蛋白阳性率较高；p16、p53蛋白阳性率较低；MDM2阳性表达和p16阴性表达与NHL患儿不良状态、不良预后有关。     

CD147和基质金属蛋白酶9在非霍奇金淋巴瘤中的表达及其与预后的关系

目的 探讨CD147和基质金属蛋白酶9(MMP-9)在非霍奇金淋巴瘤(NHL)中的表达,分析表达水平与临床分期、肿块大小、血清乳酸脱氢酶(LDH)水平及与预后的关系.方法采用免疫组化方法研究病理标本中CD147、MMP-9的表达及其与临床指标之间的关系,探讨两者的相关性及其与NHL预后的关系.结果 ①免疫组化结果 :73%病例(45/62)CD147表达阳性,其中(+)11例,(++)13例,(+++)21例,阴性表达17例;81%病例(50/62)MMP-9表达阳性,其中(+)13例,(++)18例,(+++)19例,阴性表达12例;CD147与MMP-9的表达有明显相关性.②CD147的表达与临床骨髓浸润、肿块大小、LDH值以及临床分期有关;MMP-9的表达与骨髓浸润和临床分期有关.③CD147(-)～(+)组5年生存率明显高于(++)～(+++)组,同样MMP-9(-)～(+)组5年存活率显著高于(++)～(+++)组.Cox多因素风险分析提示CD147和MMP-9都是影响预后的重要因素.结论 CD147和MMP-9的表达与NHL的预后相关,高表达者预后不良.     

p53 Pathway dysfunction in primary childhood ependymomas

BACKGROUND: Childhood ependymoma remains a major therapeutic challenge despite surgery, chemotherapy, and irradiation. We hypothesized that p53 function might be abrogated in ependymomas and implicated in their resistance to anti-cancer therapy. PROCEDURE: Primary ependymomas at diagnosis or relapse from 24 children were analyzed for p53 pathway, using a functional assay in yeast, RT-PCR, Western blot analysis, and/or immunohistochemistry for TP53 mutation, p14(ARF) deletion and promoter hypermethylation, MDM2 and PAX5 expression, respectively. p53-mediated response to radiation-induced DNA damage was evaluated using Western blot and flow cytometry analysis in two ependymoma xenograft models, IGREP37 and IGREP83, derived from primary anaplastic childhood ependymomas. RESULTS: No TP53, MDM2, p14(ARF), PAX5 gene abnormalities were detected in the primary ependymomas tumors and xenografts tested. Interestingly, despite the lack of these abnormalities, p53 induced p21-mediated G(1) growth arrest in response to irradiation was altered in the IGREP37 xenograft tumors. Although irradiation induced necrosis and apoptotic cell death, IGREP37 tumors were moderately sensitive to radiation therapy in vivo. In contrast, irradiation yielded significant tumor growth delays and tumor regressions in the p53 functional IGREP83 xenografts. CONCLUSION: Alterations in p53-mediated growth arrest in ependymomas might be implicated in the radio-resistance of these tumors and demand further evaluation.     

p53免疫组化判定肾母细胞瘤预后的研究

目的探讨p53免疫组化的表达与肾母细胞瘤侵袭性的关系,及对术前化疗的评估。方法收集2007年一2009年本院收治的44例肾母细胞瘤患儿,25例患儿未接受化疗而直接手术,19例术前化疗后再做手术。患儿术后病理组织学检查均证实为肾母细胞瘤,年龄0.4~10岁,平均年龄(2.7±2.0)岁。所有病理切片做p53免疫组化。根据p53染色密度和强度进行计分。结果 p53高强度、综合得分在术后和术前化疗患儿之间有统计学意义(P=0.003;P=0.006),综合得分为1的术后化疗患儿死亡、复发及组织结构分型有统计学意义(P值分别为0.034、0.035、0.02)。综合得分为1的术前化疗患儿死亡、复发及组织结构分型无统计学意义(P=0.271)。结论本研究初步表明,肾母细胞瘤术后化疗的肿瘤侵袭性较术前化疗肾母细胞瘤强,p53免疫组化的表达与肾母细胞瘤分期和预后相关,可能成为肾母细胞瘤肿瘤组织病理学分析的补充。     

Axenfeld–Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion

Axenfeld–Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2‐month‐old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra‐arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features. Pediatr Blood Cancer 2010;54:480–482. © 2009 Wiley‐Liss, Inc.     

Secondary Burkitt lymphoma in a retinoblastoma patient with 13q deletion syndrome

We report a boy with constitutional deletion 13q chromosome associated with dysmorphic features and bilateral retinoblastoma. The patient developed secondary Burkitt lymphoma 5 years after the diagnosis of retinoblastoma at the age of 8 months. He has completed treatment for both malignancies. At present, he is 7 years old and still in remission.     

Tumor suppressor protein p53 and anti-p53 autoantibodies in pediatric rheumatological diseases

The tumor suppressor protein p53 plays an important role in cell cycle regulation. One of the major features in rheumatic diseases is the abnormal proliferation of lymphocytes. p53 expression in peripheral blood mononuclear cells (by flowcytometry) and serum anti-p53 antibodies (by ELISA) were therefore measured in 18 children and adolescents with juvenile rheumatoid arthritis (JRA) and 17 with systemic lupus erythematosus (SLE) in comparison to 20 healthy controls, to determine their role. p53 expression in patients was insignificantly higher than that of controls (2.28 ± 2.71% vs. 1.08 ± 1.02%, respectively, p > 0.05) with 29.4% of the patients showing values above a cut-off level of 2.55% (95th percentile of controls). SLE patients with active disease had significantly higher p53 expression compared to controls and to patients with quiescent disease although no significant correlation with ESR or complement 3 was detected. Seropositivity to anti-p53 antibodies was observed in none of controls but in 22.8% of patients, all of whom, except one, had active disease. Seropositivity to anti-p53 antibodies was more prominent in lupus nephritis than in other presentations of SLE (p < 0.05). The mean p53 expression in seropositive patients was insignificantly higher than in seronegatives. p53 expression and seropositivity to anti-p53 were slightly higher in SLE than in JRA and were not significantly affected by the mode of therapy. Thus, the overexpression of p53 in some patients with active SLE and JRA might explain the abnormal proliferation of autoreactive lymphocytes that perpetuates the inflammatory response. The presence of anti-p53 antibodies might cause malfunctioning of p53 protein interfering with its regulatory functions.     

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation‐sensitive multiplex ligation‐dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay.     

高体积分数氧暴露对早产大鼠肺p53和细胞周期调节基因表达的影响

目的 观察体积分数为600 mL/L氧暴露对早产大鼠肺肿瘤抑制蛋白p53和肺细胞周期调节基因(p21waf/cipl)表达的影响,探讨其与新型支气管肺发育不良(BPD)发病机制的关系.方法 孕21 d早产大鼠出生6 h内随机分为高体积分数氧(高氧)组和对照组.对照组置于常压空气中,高氧组置于氧体积分数为600 mL/L的氧舱中,二组均于胚胎19 d(E19)及出生第1、3、5、7天(P1、P3、P5、P7)各随机取8只早产大鼠,采用RT-PCR技术检测其肺组织肺p53和p21waf/cipl基因表达水平.采用SPSS 12.0软件进行统计学分析.结果 1.对照组胎鼠及早产大鼠肺组织p53 mRNA的表达自出生后随鼠龄增加逐渐下降,至P5最低;高氧组胎鼠及早产大鼠p53 mRNA的表达在E19～P7均较高于对照组,P5和P7时与对照组比较差异均有统计学意义(Pa<0.05).2.对照组胎鼠及早产大鼠肺组织p21waf/cipl mRNA的表达水平在E19～P7随鼠龄增加而升高,高氧组胎鼠及早产大鼠肺组织p21waf/cipl mRNA的表达在E19～P7均高于对照组,P5时二组比较差异有统计学意义(P<0.05).结论 600 mL/L氧暴露可通过调控p53及p21waf/cipl途径抑制肺组织细胞增殖,进而导致BPD的发生.