Septo-optic dysplasia with unilateral optic nerve hypoplasia: case report

Septo-optic dysplasia (de Morsier syndrome) is a well-described entity that includes optic nerve hypoplasia and the absence of the septum pellucidum with or without pituitary abnormalities. We describe a case with unilateral optic nerve hypoplasia and absence of a septum pellucidum. A 6-year-old boy was referred to our clinic because of poor visual acuity. His best-corrected visual acuity was counting fingers at 15 cm in the right eye and 1.0 in the left eye. Extraocular muscle movements were normal, and exotropia of 30 prism diopters by Hirschberg test in the right eye was present. The pupils were equal and reactive to light with a mild Marcus Gunn pupillary response in the right eye. Perimetry revealed small visual fields in the superior quadrants of the right eye, while the left eye was normal. Ophthalmoscopic examination showed a small pale optic disc in the right eye; the optic disc of the left eye was normal. Magnetic resonance imaging showed the absence of the septum pellucidum. Endocrine studies revealed no evidence of pituitary insufficiency.     

EDA基因新发变异致少汗性外胚层发育不良一例报道并文献复习

外胚层发育不良是一组罕见的先天性疾病，主要累及外胚层来源的器官，如指甲、牙齿、头发和汗腺等，造成其结构及功能异常。EDA基因是少汗性外胚层发育不良（HED）的致病基因。HED患儿易发生高热，高热严重者可造成死亡。本文总结了1例EDA基因c.852T>A新发变异所致HED患儿的临床及基因突变情况，丰富了该病的基因突变谱，以增强临床对该罕见病的认识。     

自体骨植骨在成人先天性髋臼发育不良全髋关节置换术中的疗效分析

目的 分析成人先天性髋臼发育不良全髋关节置换术中使用自体骨结构性移植重建髋臼的疗效。方法 2007年8月至2010年5月手术治疗先天性髋臼发育不良Crowe Ⅱ、Ⅲ型患者21例(24髋),男3例(3髋),女18例(21髋),行非骨水泥型全髋关节置换术,应用自体股骨头植骨重建髋臼,随访指标为Harris评分和影像学检查。结果 Harris评分统计分析显示,术前与术后差异有统计学意义(P<0.05),移植骨愈合,无移植骨的吸收。结论 自体骨结构性植骨在非骨水泥型全髋关节置换治疗先天性髋臼发育不良中有良好疗效。     

大肠腺瘤—癌序列细胞凋亡及其调控基因p53的研究

目的研究细胞凋亡及其调控基因p53在大肠腺瘤—癌序列中的变化,以探讨其在大肠癌发生中的作用。方法利用DNA断裂原位标记法(缺口末端标记技术,TUNEL法)和免疫组织化学方法(SP法),对60例大肠腺瘤(腺瘤组)和60例大肠腺癌(腺癌组)的活检组织分别进行细胞凋亡和p53蛋白表达的检测,并采用30例正常大肠粘膜作对照组。结果对照组细胞凋亡指数(AI)显著高于腺瘤各组和腺癌组(P<0.01);腺瘤各组均高于腺癌组(P<0.01)。p53在三组中的表达差异有高度显著性(P<0.01)。在腺瘤和腺癌组中,p53阴性者的AI均高于其阳性者(P<0.05或0.01)。结论从正常大肠粘膜到腺瘤、腺癌的过程中细胞凋亡逐渐减少,表明细胞凋亡受抑制可能在大肠癌的发生发展过程中起着重要的作用。p53蛋白的表达在从正常大肠粘膜到腺瘤、腺癌的过程中逐渐增多,提示p53基因突变可能在大肠腺瘤转化为腺癌的过程中起促进作用。     

垛状髋臼扩大术治疗髋臼发育不良

目的丰富髋关节发育不良及大龄发育性髋关节半脱位的治疗手段。方法采用关节囊外的沟槽植骨,外板夹卡,垛状髋臼扩大术对发育性髋关节发育不良,大龄髋关节半脱位的患儿15例（20个髋,5例为双髋）进行治疗。采用先天性髋脱位疗效评定标准,根据患儿主观感觉,临床检查及X线摄片检查评定为依据进行评分。用Charnley评分标准及Harris评分标准对照。结果垛状髋臼扩大术采用交叉网状外板夹卡植骨方式,可大大改善髋臼包容,20髋中最大改善度由65％增大到85％,最小改善度由75％到90％。髋臼覆盖率超过85％,髋臼指数小于25。。结论垛状髋臼扩大术是一种安全、复合解剖结构而设计的一种外板夹卡交叉网状植骨造盖手术,有效扩大髋臼包容面积更加稳定。     

多原发性肺癌与支气管肺泡上皮异型增生关系的研究

目的:探讨多原发性肺癌与支气管上皮异型增生及肺泡上皮不典型腺瘤性增生之间的关系.方法:对114个手术切除的原发性肺癌标本进行病理组织学检查,观察多原发性肺癌的存在,支气管上皮异型增生,以及肺泡上皮不典型腺瘤性增生的数目,分析多原发性肺癌与支气管上皮异型增生及其程度,肺泡上皮不典型腺瘤性增生之间的关系.结果:在114个原发性肺癌标本中发现多原发性肺癌13例,其中6例2个原发性肺癌为支气管肺癌,7例2个原发性肺癌为支气管肺癌和肺泡细胞癌.经Spearman相关分析,多原发性肺癌与支气管上皮异型增生级别呈正相关(r=0.238,P<0.05).结论:支气管及肺泡上皮细胞可同时或先后发生原发性肺癌;有广泛支气管上皮高级别异型增生者肺多原发性癌发生概率增高.     

Zweymueller螺旋臼在成人先天性髋臼发育不良外科治疗中的应用

目的：初步探讨Zweymueller型髋臼假体治疗成人先天性髋臼发育不良继发髋关节骨性关节炎的有效性。方法：应用Zweymueller型人工全髋关节假体，对27例30个成人先天性髋关节发育不良继发髋关节骨性关节炎患者行全髋关节置换（THR）。术前Harris评分最高56分，最低24分，平均42．6分。结果：所有患者髋关节疼痛完全消失，关节活动度增加，髋臼假体稳定。Harris评分最高98分，最低78分，平均90分。X线评价无松动征像，髋臼假体位置良好。结论：特殊设计的Zweymueller型人工全髋关节假体髋臼重建初期稳定，手术不需大块植骨和骨水泥，初期随访效果满意。     

胎儿颈部软组织厚度及母体血清标记物筛查胎儿异常效果

目的探讨胎儿颈部软组织厚度和母体血清标记物在筛查胎儿发育异常的价值。方法收集399例孕11～14周超声测定胎儿颈部软组织（nuchal translucency,NT）厚度和1125例孕14-21周测定母体二联血清标记物（AFP＋Free—B—HCG）,并对其胎儿结局进行追踪。结果胎儿NT测定和母体血清标记物用于筛查胎儿发育异常的敏感度分别为50．00％和51．11％,特异度分别为98．69％和74．44％。胎儿NT筛查胎儿发育异常的截断值初步计算为2．25mm。结论胎儿NT和母体血清标记（AFP＋Free—β—HcG）筛查胎儿发育异常具有较高的敏感性。     

Staheli髋臼延伸术治疗8岁以上发育性髋臼发育不良

目的探讨Staheli髋臼延伸术治疗8岁以上发育性髋臼发育不良的体会.方法回顾分析2001年12月-2010年8月,采用髋臼延伸术治疗8岁以上发育性髋臼发育不良40例患者的病历资料,共46个髋,其中左髋17例,右髋17例,双髋6例.患者平均年龄10(8-16)岁.结果术后随诊时间平均5(3-10)年,根据McKay的临床评定标准,15个髋关节为优,25个髋关节为良,6个为可.X线片根据Severin的评定标准,13个髋关节为优,28个为良,5个为可.结论 Staheli髋臼延伸术治疗8岁以上发育性髋臼发育不良是一种简单有效的方法,其远期效果有待继续随诊.     

早产儿宫内感染性肺炎相关并发症临床分析

目的 探讨早产儿宫内感染性肺炎与相关并发症的关系。方法 选择在我院住院治疗的早产儿195例,根据宫内感染性肺炎诊断标准分为肺炎组和非肺炎组。比较两组早产儿相关并发症的发生情况。结果 肺炎组发生支气管肺发育不良（BPD）、早产儿脑病的比例均高于非肺炎组,差异有统计学意义（χ^2=4.65、10.20,P〈0.05）。结论 宫内感染性肺炎与BPD、早产儿脑病存在一定相关性,应引起注意,积极防治。     

P~(53)andc-myc蛋白在食管癌及癌前病变中的表达意义

目的　探讨P53 及c -myc蛋白在食管癌及癌前病变中的表达及意义。方法　应用免疫组化SP法检测P53 及c -myc在 6 0例食管癌及 33例非典型增生中的表达。 结果　P53 及c -myc蛋白分别在食管癌与非典型增生I～II级中表达有显著差异 (P <0 .0 5 ) ;在食管癌与非典型增生III级表达中无显著差异 (P >0 .0 5 )。结论　P53 及c -myc蛋白异常表达 ,可为食管癌和癌前病变界限的划分提供参考依据。     

兔髋臼发育不良软骨增厚及纤维化的实验研究

Background The order and mechanism of pathological changes in acetabular dysplasia are still unclear. This study investigated cartilage changes in rabbit acetabular dysplasia models at different ages.Methods Twenty-seven 1-month-old New Zealand rabbits underwent cast immobilization of the left hind limb in knee extension. Serial acetabular dysplasia models were established by assessment of the acetabular index and Sharp＇s angle on radiographs. The thickness of the acetabular cartilage was measured under a microscope, and fibrosis was observed. Ultrastructural changes were investigated with scanning electron microscopy and transmission electron microscopy. The messenger RNA expression of collagen Ⅰ and Ⅱ, β1 integrin, and caspase-9 were measured by real-time fluorescence quantitative polymerase chain reaction.Results In an immature group of rabbits, the acetabular index of the treated hip increased with animal growth. The cartilage on the brim of the left acetabulum was significantly thicker than that on the right side. The collagen fibrils on the surface of the cartilage became gross, and the chondrocytes in the enlargement layer underwent necrosis. In a mature group of rabbits, the left Sharp＇s angle increased in the rabbits with 6-week casting. The cartilage on the brim of the left acetabulum underwent fibrosis. The chondrocytes were weakly stained, and the number of lysosomes was much larger than normal. The messenger RNA expression of collagen Ⅰ and Ⅱ, β1 integrin, and caspase-9 in the cartilage differed significantly at different ages.Conclusions Increasing thickness followed by fibrosis may be the order of pathological cartilage changes in acetabular dysplasia, with changes in ultrastructure and collagen expression contributing to the process.     

胃癌癌前病变中医证候与凋亡相关癌基因mRNA表达的关系

【目的】 探讨胃癌癌前病变(PLGC)中医证候与bcl-2癌基因和p53抑癌基因mRNA表达的关系。【方法】经胃镜及病理证实为PLGC病例共40例,其中中度异型增生24例,重度异型增生9例,不完全性结肠化生7例;兼气滞证10例,兼胃热证12例,兼血瘀证18例。采用原位分子杂交的方法检测胃粘膜活检标本bcl-2癌基因和p53抑癌基因mRNA表达。【结果】本组PLGC中,bcl-2癌基因和p53抑癌基因在转录水平均有过度表达,并随病变的进展而表达逐渐增高。在不同的兼证中,bcl-2癌基因和p53抑癌基因mRNA的表达强度依次为兼气滞证<兼胃热证<兼血瘀证。【结论】bcl-2癌基因和p53抑癌基因在PLGC中有异常表达,其表达与不同兼证有关且可能有一定的证候特异性。     

新生儿发育性髋关节异常的早期超声筛查

目的 探讨Graf法髋关节超声检查在新生儿发育性髋关节异常筛查中的作用.方法 对976例新生儿行髋关节超声检查,通过观察髋关节形态结构及Graf法测量髋关节α角、β角判断髋关节发育情况,异常病例进行超声随访.结果 976例新生儿中,正常髋关节953例（97.64%）,发育性髋关节异常发病率占2.36%.其中髋关节发育不良20例（2.05%）,半脱位2例（0.205%）,全脱位1例（0.105%）.结论 在新生儿中进行超声筛查发育性髋关节异常,方法简单安全,是早期发现和诊断发育性髋关节异常的有效措施.     

实体显微镜下靶向取材对提高早期大肠癌检出率的研究

目的 建立一套适合内镜下黏膜剥离切除标本的临床病理取材方法,以提高早期大肠癌的检出率。方法 采用2005年8至12月南方医院常规结肠镜检查行内镜下黏膜剥离切除的大肠肿瘤性病变标本,对病变超过10mm以上可疑癌变的病例,采用黏膜染色,结合实体显微镜进行观察,根据腺管开口类型判断可疑癌变部位进行靶向取材病理检查,并与常规随机取材的标本进行对照,观察对大肠癌变检出率的影响,同时,将该期大肠早期癌检出情况与2004年随机取材的检出率进行对照。结果 采用黏膜染色结合实体显微镜进行靶向取材,在40例可疑癌变病例中,确诊早期癌变（包括重度不典型增生）16例,这16例标本随机取材送检后,除1例病理诊断为重度不典型增生外,其余15例均为轻度或中度不典型增生。2004年同期进行非靶向取材,在54例可疑癌变的大肠肿瘤中仅检出4例早期癌变（包括重度不典型增生）,检出率为7．4％。结论 内镜下黏膜剥离切除标本采用黏膜染色实体显微镜进行靶向定位活检,可提高大肠早期癌变的检出率。     

先天性肾病综合征合并颅骨发育不良一例及文献复习

报道1例经临床、实验室和头颅CT检查而确诊的先天性肾病综合征合并颅骨发育不良的罕见病例，外结合文献对先天性肾病综合征的遗传特性、临床特点、治疗进展及预后等予以介绍，以加强对该病的认识。     

S-ROM假体联合转子下截骨治疗Crowe Ⅳ型髋关节发育不良

目的 探讨采用S-ROM假体联合股骨转子下横形截骨行全髋关节置换术的方法,评价其对于治疗Crowe Ⅳ型成人髋关节发育不良疾病的疗效. 方法 收集11例(13髋)Crowe Ⅳ型髋关节发育不良患者,采用S-ROM假体联合股骨转子下横断截骨短缩法行全髋关节置换手术.采集双下肢长度差、髋关节活动度、改良Harris髋关节评分、简明健康调查表及髋关节X线片等相关临床资料进行对比分析. 结果 11例患者均得到有效随访,中位随访时间60月(8～78月).未发现感染、骨折、脱位等并发症.双下肢长度差术前为(25.2±7.6)mm,术后为(1.2±0.4)mm(t=10.481,P<0.01).改良Harris评分由术前的(38.2±6.4)分提高到术后(82.1±8.6)分,差别有统计学意义(t=14.186,P<0.01).影像学示假体固定优良,无临近骨质溶解表现.所有施行臼侧植骨及股骨截骨处均骨性愈合. 结论 S-ROM假体联合股骨转子下横形截骨行全髋关节置换术,对于恢复Crowe Ⅳ型成人髋关节发育不良患者髋关节功能、解除髋关节疼痛疗效确切,并能有效改善患者的生活质量.     

Sheehan's syndrome presenting as psychosis: a rare clinical presentation

Sheehan''s syndrome (SS) refers to the occurrence of varying degree of hypopituitarism after parturition (1). It is a rare cause of hypopituitarism in developed countries owing to advances in obstetric care and its frequency is decreasing worldwide. However, it is still frequent in underdeveloped and developing countries. Sheehan''s syndrome is often diagnosed late as it evolves slowly (2,3). Reports of psychoses in patients with Sheehan''s syndrome are rare. Herein, a case report of psychosis in a 31 year old woman who developed Sheehan''s syndrome preceded by postpartum haemorrhage is presented. Treatment with thyroxine and glucocorticoids resulted in complete remission after attaining euthyroid and eucortisolemic state.     

Asthma increase among farmers: a 12-year follow-up

Respiratory disease is a well known health hazard for farmers, but the long-term prognosis is less well known. This is a 12-year follow-up of an investigation of Swedish farmers, most of them dairy farmers. A questionnaire was mailed to all 418 farmers who were alive of the farmers originally participating in 1982. They were invited to an interview, spirometry, and blood sampling. Ninety-one per cent (380) of the farmers, 321 men and 59 women, responded to the questionnaire. The mean age was 56 years for the men and 55 years for the women. Of the group, 10% were smokers, 25% ex-smokers, and 65% had never smoked. The population estimate for asthma in the farmers was 8.9% in 1994 compared to 2% in 1982, and to 5.4%–6.6% in the general population in the region in 1982. Of the asthmatic subjects, one-third had positive RAST tests (radioallergosorbent tests). Almost 90% of the new onset asthma cases since 1982 had non-IgE-mediated asthma. Most of the IgE-mediated asthmatics had had symptoms for many years, while 70% of the non-IgE-mediated asthmatic farmers had no or only wheezing with colds 1982. Two new cases of hypersensitivity pneumonitis were identified, and 7.3% had experienced inhalation fever during the last 12 years. In general, individuals with asthma and chronic bronchitis who had left farming were in better health in 1994 as compared to 1982. In conclusion, farmers have an enhanced risk to develop asthma increasing with age. Asthma in farmers is often non-IgE-mediated.