新生儿先天性肠旋转不良的诊治

新生儿先天性肠旋转不良 (出生 3个月以内 )较为少见。有关其诊断与治疗方面的文献报导不多 ,现就我们近年来遇到 7例病儿的诊治体会报告如下。临床资料本组病例均为男性 ,就诊时出生 14天～ 75天。均为足月正常产 ,出生时体重 2 6 0 0ｇ～ 35 5 0ｇ ,身高 4 5ｃｍ～ 5 2ｃｍ。     

婴幼儿先天性肠旋转不良的形态学基础及临床分析

先天性肠旋转不良是由于胚胎发育中肠管旋转发生障碍,从而并发肠梗阻或肠扭转.是婴幼儿先天性肠梗阻常见病因,其并发症严重、病死率高达4%～19%.为早期诊断、提高疗效、减少死亡率,现对我院1986～2003年诊治的36例婴幼儿先天性肠旋转不良报道如下.     

腹腔镜治疗小儿先天性肠旋转不良——附41例病例分析

目的回顾性分析小儿先天性肠旋转不良腹腔镜Ladd’s与传统开腹手术治疗的治疗效果,探讨腹腔镜Ladd’s手术与传统开腹手术比较的优势。方法选取临床工作中患先天性肠旋转不良患儿41例,其中男性24例,女性17例;年龄2个月~6岁7个月,平均年龄4岁3个月。经腹腔镜手术治疗病例18例,经传统开腹手术治疗的病例23例。比较其手术时间、术后排气时间、排便时间、进食时间、有无体温升高等指标。结果经腹腔镜治疗的病例恢复顺利,各项观察指标均优于开腹手术患儿。结论腹腔镜治疗肠旋转不良术中、术后效果确切,可广泛应用于临床。     

右侧肾门外翻伴右肾双动脉变异1例

<正>肾门是指每侧肾的内侧缘上的一个垂直并向前内侧开放的凹陷。正常情况下，肾门处各主要结构的位置关系是∶前方为肾静脉，中间为肾动脉，后方是肾盂。笔者在解剖1具成年女性标本的过程中，发现其右侧肾门朝前，肾门处从内到外、由上到下依次为右肾动脉、右肾静脉内侧支、右输尿管、右肾静脉外侧支、右副肾动脉。右肾动脉自腹主动脉发出走行于下腔静脉前方，右副肾动脉自右髂总动脉发出经肾后方绕至外侧由外下向内上嵌入右肾实质的压迹中进入肾门。为积累国人解剖学资料，供临床外科、影像学参考，现将变异情况报道如下：     

介入放射诊疗设备应用及不良事件检测

目的对介入放射医学的设备、材料、方法及临床应用进行详细的阐述，有效的减少放射治疗中不良事件的发生率。方法对各种影像设备的性能、使用方法及设备的防护知识进行介绍，在此基础上，讨论介入治疗不良事件发生的具体原因，提出避免介入治疗不良事件发生的相关方案。结果增强放射线设备的防护意识，可以有效的避免介入放射线治疗中不良事件的发生。结论医护人员及患者必须做好防范工作，以免介入放射线治疗中不良事件的发生所导致的临床诊断事故，有效的保护医护人员与患者的身体健康，使介入放射线治疗工作能够顺利开展。     

肾前段血管的应用解剖及其临床应用

在８７例成人尸体肾前段血管应用解剖学研究基础上，根据肾前段血管分布的规律，设计肾前段切除术。手术要点是寻找，阻断肾前上，下段动脉，显示肾前段缺血区，然后予以切除。按照血管分布要点进行手术，切除范围准确，可减少术中，术后出血等并发症。     

甲状腺样滤泡性肾细胞癌的临床病理特点

甲状腺样滤泡性肾细胞癌(thyroid-like follicular renal cell carcinoma,TLFRCC)是一种非常少见的肾原发性恶性上皮性肿瘤,确诊主要依靠病理组织学及免疫组织化学,外科手术切除是最好的治疗方法,预后好.通过对郑州人民医院2014年收治的1例TLFRCC患者的临床资料、大体特征、组织病理学及免疫表型等进行分析,并结合文献报道的28例,进一步探讨TLFRCC的临床病理特点、免疫表型、诊断与鉴别诊断及遗传学特点.     

肾血管平滑肌脂肪瘤31例临床病理分析

目的：探讨肾血管平滑肌脂肪瘤（angiomyolipoma，AML）的临床病理特征。方法：对31例肾AML的临床病理特征进行分析，并做免疫组化检测，其中4例做电镜观察。结果：31例肾AML按其组织形态可分为典型型（67.7%）、非典型型(6.5%)、平滑肌瘤样型（9.7%）、脂肪瘤样型（9.7%）、炎症型（6.5%）5型。免疫表型：肿瘤细胞特征性表达HMB45、Melan-A、gp-100、HHF35、SMA、CD68。其中1例电镜下肿细胞内可见黑色素小体。结论：肾AML的组织形态多样，特征性免疫级化标记为诊断提供依据。掌握形态特征及其鉴别诊断要点有助于临床的正确治疗。     

64例肾综合征出血热的临床特点分析

目的 总结肾综合征出血热的临床特点,尤其是肝脏损伤特点,减少漏诊、误诊.方法 回顾性分析64例肾综合征出血热患者的临床特点、尤其是肝脏损伤特点.肾综合征出血热-IgM、IgG抗体用酶联免疫法检测.统计分析采用SPSS 12.0软件.结果 肾综合征出血热全年散发,71.6%的患者于2-6月发病.典型临床表现者较少,仅30.6%患者有"三痛"、32.8%患者有"三红",但头痛(90.6%)和恶心呕吐(84.4%)仍常见.仅31.3%患者有典型五期经过,越单期者56.3%、越双期者12.5%.血小板降低(79.7%)和尿蛋白(++)以上仍较常见(71.9%),但血白细胞总数多为正常或稍低(54.7%).仅约2/3患者血清肌酐(Cr)升高.肝脏损伤以谷丙转氨酶(ALT)升高(82.8%)、天冬氨酸转移酶升高(76.6%)、乳酸脱氢酶升高(78.1%)为主,胆红素和白蛋白基本正常.ALT水平与Cr水平不平行.并发症以肺部疾病为主(21.9%).结论 需重视肾综合征出血热的不典型表现,及早处理肝脏损伤和肺部疾病,提高诊疗水平.     

肾移植患者术后蛋白尿的临床诊治效果

目的探讨肾移植受者术后蛋白尿临床诊治的效果,并观察其不良反应。方法对131例肾移植术后蛋白尿患者行移植肾穿刺活体组织检查,根据不同病因应用糖皮质激素类药物或调整免疫抑制方案及改善微循环等相应临床治疗,评价其临床疗效和安全性。结果治疗后24h尿蛋白定量、血肌酐、肌酐清除率、血尿素氮分别为（0．48±0．36）g／L、（119．88±34．15）μmon／L、（82．23±48．79）ml／min、（4．42±1．77）mmon／L,与治疗前比较,差异有统计学意义（P〈0．05）;治疗后排斥反应、新发／复发性肾小球肾炎和缺血再灌注损伤组的总有效率与无效率比较差异有统计学意义（P〈0．05）;治疗期间未发生严重不良反应。结论根据移植肾穿刺结果,应用糖皮质激素类药物或者调整免疫抑制方案及改善微循环等药物治疗对肾移植术后蛋白尿进行治疗,其临床疗效好,不良反应较少。     

十二指肠损伤的诊断和治疗

目的探讨十二指肠损伤的特点及手术方法,以提高十二指肠损伤的诊治水平。方法回顾性分析36例十二指肠损伤的临床资料。结果单纯性十二指肠损伤仅5例,有合并伤者31例。全部病例均经手术治疗,治愈31例(86.1%),术后并发症10例(27.8%),死亡5例(13.9%)。结论十二指肠损伤早期诊断困难,应保持警觉,综合判断。按损伤类型及十二指肠损伤情况,选择适当的术式,以提高生存率,减少并发症的发生。     

Congenital renal anomalies detected in adulthood

Objective

To document the types of congenital renal anomalies detected in adulthood, the clinical presentation and complications of these renal anomalies, and the most useful imaging modality in detecting a renal anomaly.

Materials and methods

This study was approved by the institutional review board and informed consent was waived. Between January 2007 and January 2011, the clinical data and imaging studies of 28 patients older than 18 years diagnosed with renal anomaly at the authors’ institution were retrospectively reviewed. Renal anomalies in this study included only those with abnormality in position and in form.

Results

Of these 28 patients, 22 underwent imaging studies and their results constituted the material of this study. Of the 22 patients, 14 had horseshoe kidneys (HSK), four had crossed renal ectopia and four had malrotation. Sixteen patients were men and six were women. The patients ranged in age from 19 to 74 years (mean age 51.1 years). Clinical presentations were abdominal pain (13), fever (13), haematuria (4), palpable mass (2), asymptomatic (2), polyuria (1) dysuria (1), blurred vision (1), and headache with weakness of left extremities (1). Imaging studies included abdominal radiograph (15), intravenous pyelography (IVP) (8), retrograde pyelography (RP) (4), ultrasonography (US) (7), and computed tomography (CT) (9). Associated complications included urinary tract stones (17), urinary tract infection (16), hydronephrosis (12), and tumours (2). Abdominal radiograph suggested renal anomalies in nine out of 15 studies. IVP, RP, US and CT suggested anomalies in all patients who had these studies performed. However, CT was the best imaging modality to evaluate anatomy, function and complications of patients with renal anomalies.

Conclusion

HSK was the most common renal anomaly, with abdominal pain and fever being the most common presentations. UTI and stones were the most common complications. IVP, RP, US and CT can be used to diagnose renal anomalies but CT is the best imaging modality to evaluate renal anatomy, function and its complications.     

复杂肾结石手术治疗体会（附340例报告）

目的探讨复杂肾结石的手术治疗方法。方法回顾性分析340例复杂肾结石手术的临床资料。结果术后经B超或腹平片检查,34例有残留结石,取尽结石率占89%。术中术后大出血8例,其中术中止血困难肾切除2例,术后7d大出血1例经处理无效行肾切除,术后12d大出血1例经再手术止血成功,余4例经处理出血停止。肾切除率8.8%(30/340)。结论肾窦内肾盂切开或联合肾后下部切开取石,出血少、易取尽结石、肾功能影响小,是治疗复杂肾结石的理想术式之一。     

Focal dermal hypoplasia (Goltz syndrome) associated with intestinal malrotation and mediastinal dextroposition

Focal dermal hypoplasia (Goltz syndrome) is a rare syndrome comprising developmental anomalies of tissues and organs of mesoectodermal derivation. We report on a characteristic case of focal dermal hypoplasia with the previously unreported association of mediastinal dextroposition and intestinal malrotation. © 1996 Wiley-Liss, Inc.     

血浆置换－血液净化治疗多发性骨髓瘤并发肾衰竭患者的诊疗分析

目的观察血浆置换－血液净化治疗多发性骨髓瘤（MM）并发肾衰竭患者的疗效。方法MM并发急性肾衰竭患者34例,其中男性19例,女性15例;年龄42～75岁,平均年龄54岁。采用HA130灌流器（珠海丽珠医用公司）,对其进行血浆置换－血液净化治疗。每3天行1次血浆置换－血液净化治疗,3次为1疗程。统计分析治疗前后的尿素氮、血肌酐（SCr）、每日尿量。结果共进行96次血浆置换－血液净化。治疗有效者22例,其中包括肾功能逆转17例,5例发展为慢性尿毒症,无效者12例（其中死亡患者2例,主动出院者3例）。尿素氮、SCr治疗后均显著下降;治疗前后比较,差异有显著统计学意义（P〈0．001）。每日尿量从（924．32±543．26）mL下降到（331．24±321．01）mL;治疗前后比较,差异有显著统计学意义（P〈0．001）。中重度贫血29例中缓解24例（82．8％）;差异有显著统计学意义（P〈0．001）。免疫球蛋白IgG型患者治疗后17例有效。结论血浆置换－血液净化治疗MM并发肾衰竭可以延长患者生存时间,促进急性肾衰竭完全康复,提高患者生活质量。     

Microsatellite allelotyping differentiates chromophobe renal cell carcinomas from renal oncocytomas and identifies new genetic changes

AIMS: The diagnosis of renal oncocytomas (ROs) and chromophobe renal cell carcinomas (RCCs) based on histological features is often uncertain. To assess the value of genetic analysis in their differential diagnosis we analysed 27 ROs and 21 chromophobe RCCs by microsatellite allelotyping. METHODS AND RESULTS: Markers at the short and long arms of chromosomes specifically involved in the genetic changes of the four main types of renal cancers were selected. Allelic changes were identified by automated sequencing. Allelic changes at chromosome 1p occurred in 8/26 (31%) and at chromosome 14q in 4/27 (15%) ROs. Loss of heterozygosity (LOH) at chromosomes 1, 2, 6, 10, 13, 17 and 21 were seen in 90%, 90%, 96%, 86%, 85%, 90% and 72% of the chromophobe RCCs, respectively. Alterations of at least three of these chromosomal sites were detected in each chromophobe RCC. In addition, we found recurrent LOH at chromosomes 9p23 (43%), 18q22 (30%), 5q22 (28%) and 8p (28%) in chromophobe RCCs. CONCLUSIONS: Chromophobe RCCs can be differentiated from ROs by analysing specific chromosomal regions with microsatellites.     

Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co‐occurrence from Thailand

Kabuki syndrome (KS) is a rare heterogeneous phenotypic genetic syndrome, characterized by hypotonia, developmental delay and/or intellectual disability with typical facial features. It is challenging to diagnose KS in newborn and young infant. We report a Thai girl who presented with two rare co‐occurrence phenotypes, hyperinsulinemic hypoglycemia and midgut malrotation. She had not have distinctive facial dysmorphism during neonatal period. At 4 months of age, she had poor weight gain with some facial features suggestive KS. Singleton whole exome sequencing (WES) was carried out followed by Sanger sequencing of the supposed variant. The result indicated a novel de novo heterozygous KMT2D mutation, c.15364A>T (p.Lys5122*), confirming KS. Our patient revealed rare clinical manifestations from the diverse population and address the benefit of WES in establishing early diagnosis of KS before typical facial gestalt exhibited, which allows timely and appropriate management to maximize developmental achievement.