新生儿先天性巨结肠的X线诊断分析

目的分析新生儿先天性巨结肠的X线表现,探讨新生儿先天性巨结肠的X线诊断,重视影像学检查的作用,提高对本病的认识,提高早期诊断水平。方法对21例新生儿先天性巨结肠的临床表现和腹部平片、钡灌肠的X线表现进行回顾分析。结果本组病例21例,腹部平片X线表现中结肠梗阻征10例,结肠淤张征8例,阴性X线征3例。钡剂灌肠X线表现中短段型1例,常见型16例,长段型2例,全结肠型2例。结论 X线检查是诊断新生儿先天性巨结肠最简单、最常用、确诊率较高的检查方法。只要密切结合临床,注意检查注意事项,检查中仔细观察,并坚持24 h复查,即可提高早期诊断正确率。     

纵隔型肺癌的X线CT诊断分析

目的分析纵隔型肺癌的影像学表现，提高诊断及鉴别诊断能力，为临床提供准确的信息。方法回顾性总结分析13例经临床手术或／和病理证实的纵隔型肺癌的X线和CT资料。13例病人均行胸部正侧位平片和CT平扫检查，6例病人做了强化扫描。结果13例纵隔型肺癌病人中有右上肺4例，左上肺2例，右肺门5例，左肺门2例。平片表现气管测移位，纵隔不规则块影，纵隔增宽，2例胸腔积液。CT表现肿块位于纵隔胸膜下，与纵隔分界清楚或模糊，显示分叶征、毛刺征、血管纠集征及支气管完全或不完全阻塞、纵隔淋巴结肿大，增强后肿块轻度不均匀强化。结论密切结合临床症状及体征，深入观察影像学表现，全面综合分析，对纵隔型肺癌可以做出准确的影像学诊断。     

骨旁脂肪瘤影像学特征及其诊断价值

目的探讨骨旁脂肪瘤的影像学特征,提高对本病认识,减少误诊。方法结合文献复习,回顾性分析我院经手术病理证实5例骨旁脂肪瘤的X线平片和CT表现。结果5例骨旁脂肪瘤,位于右股骨干2例、左尺骨中段1例,左髋臼1例、颈椎椎板1例。X线平片表现为与骨质相贴并凸向邻近软组织内的半圆形透亮影,边缘较清楚,并可见自骨干皮质伸向肿块内的树枝状骨性突起;左侧髂骨及颈椎椎板旁见不规则软组织块影和骨质硬化影相混杂的病灶。CT表现为骨旁半圆形或不规则脂肪密度肿块凸向邻近软组织内,边界清有包膜,CT值为-40～-136HU,邻近骨皮质增生肥厚或缺损,并可见伸向骨旁脂肪性肿块内的丘状、刺样或树枝状骨性突起。结论骨旁不规则形的脂肪性软组织肿块,伴邻近骨皮质伸向骨旁脂肪性肿块内的丘状、刺样或树枝状骨性突起为其特异性影像学特征,CT和MRI能对其术前作出正确的定性诊断和鉴别诊断。     

胃扭转的X线诊断

目的：提高胃扭转的临床X线影像学，认识及其分类方法。方法：4例均作X线胃钡餐检查，其中1例还作纤维胃镜，3例在透视下进行手法整复获得成功。结果：4例胃扭转中，婴幼儿2例，为特发性急性可复性的器官轴型胃扭转，成人2例，为继发性的慢性网膜轴型胃扭转。结论：胃扭转主要靠X线钡餐确诊，掌握胃的正常X线解剖关系，胃扭转的分类及其典型的X线改变至关重要。     

先天性梅毒研究进展

近十几年来随着性传播疾病在我国的传播蔓延,先天性梅毒的发病率也随之增加。先天性梅毒又称胎传梅毒,是梅毒螺旋体由母体经过胎盘而发生的胎儿宫内感染。妊娠任何时期都可能发生胎传梅毒。先天性梅毒的发生与母亲妊娠期梅毒是否治疗密切相关。孕母感染后可发生流产、死胎、死产、新生儿死亡和先天性梅毒。对孕妇的早期诊断、系统治疗是预防先天性梅毒的关键。青霉素仍然是治疗梅毒最有效的药物。早期诊断系统治疗先天性梅毒患儿是减少其并发症,提高治愈率的唯一手段。     

先天性巨结肠的病理—X线特征

目的 总结新生儿及婴儿期先天性巨结肠(HD)的X线表现，提高诊断准确率，并尝试与巨结肠类缘病(HAD)作出鉴别．方法 1岁以下先天性巨结肠病例的X线、手术及病理资料，其中详细分析最近100例病人的腹平片与钡灌肠表现．结果 214例病人钡灌肠诊断HD212例，手术结果全部病例均为HD；病理检查结果，HDl92例(89．2％)，先天性结肠神经从发育不良22例(10．3％)．100例HD的钡灌肠表现：均见不同程度痉挛狭窄段，其中45％见“S”征，77％的狭窄段僵直，63％见狭窄段不规则收缩，98％可见移行段；所有病例见不同程度扩张段，其中80％扩张段结肠袋减少或消失，47％扩张段收缩减弱．24小时后复查，94％病人见不同程度钡剂滞留．结论 钡灌肠是诊断先天性巨结肠的一个很好的手段，正确的方法与一些特殊的征象相结合，可以提高诊断的准确性，但与巨结肠类缘病的鉴别仍较困难．     

足副骨的X线观察

观察３４３５例儿童和１８１例成人足部Ｘ线片，确定国人民副骨的出现率和探讨其临床意义。共发现１６种副骨，儿童组出现率１６．８３％，成人组５８．５６％，两组间有显著差异，男１６．９７％，女２１．２９％，性别间有显著差异。外胫骨最多见，跖间骨出现最早（５岁）。足副骨较易诊断，但少数副骨可与骨折混淆，如外胫骨（４％）和三角骨（７％）形似撕脱骨折。     

先天性梅毒99例临床分析

目的了解新生儿先天性梅毒的临床特征,提高对胎传梅毒的诊治水平。方法对99例新生儿先天性梅毒患儿的临床资料进行分析,并总结其临床特征。结果新生儿先天性梅毒临床表现多样,易漏诊及误诊,99例先天性梅毒患儿经治疗后87例好转出院,9例放弃治疗出院,3例死亡。结论新生儿先天性梅毒要注意早期诊断、早期干预,及时治疗,以改善疾病的预后。     

先天性梅毒4例临床分析

先天性梅毒是指患梅毒的母体通过胎盘使胎儿感染发生的新生儿、婴儿、儿童梅毒。现将 4例先天性梅毒报告如下 :临床资料1 出生史 :男、女各 2例。年龄 <1天 3例 ,2月 1例。早产儿 1例 ,胎龄 314/ 7Ｗ ,足月儿 2例 ,足月小样儿 1例。出生体重≤ 2 0 0 0ｇ 2例 ,2 5 0 0 - 30 0 0ｇ 2例。患儿母亲有死胎史 2例 ,流产史 2例。2 临床表现 :皮肤损害 4例 ,其中斑丘疹伴皮肤出血点1例 ,疱疹 3例 ,均有大片脱屑 ,皮损多分布于手、足掌及臀部 ,硬性水肿 1例 ,肝肿大 4例 ,右肋下 1.5 - 4.5ｃｍ ,剑下 1- 3ｃｍ ,质中 2例 ,质韧 2例 ;脾大 3例 ,左肋…     

以贫血黄疸首诊的先天性梅毒诊治分析

目的探讨不典型先天性梅毒的临床表现,诊治要点及预后。方法回顾性分析以贫血黄疸首诊的先天性梅毒临床资料,对其临床表现、相关实验室检测指标进行统计分析。结果 8例患儿均有营养不良、贫血、皮肤巩膜黄染,6例有浅表淋巴结肿大,肝脏肿大5例,脾肿大3例,皮肤出血1例,均无梅毒性天疱疮。实验室发现有不同程度低增生性贫血、血小板降低及肝功能损害,1例有骨损害,1例有神经系统受累。选用青霉素治疗,治愈5例,好转2例。结论贫血黄疸可为先天性梅毒首诊症状,及时发现,早期正规治疗是改善预后的关键。     

应用PCR产前诊断胎儿及孕妇梅毒感染的研究

目的:为了研究羊水聚合酶链反应(PCR)方法产前诊断胎儿先天梅毒以及梅毒对妊娠的影响,妊娠期梅毒的诊断治疗预后等问题。方法:对8例不同孕周患梅毒的孕妇抽取羊水用PCR方法检测梅毒螺旋体DNA;对22例患梅毒的孕妇应用青霉素或红霉素进行治疗并随访至分娩后;对261例因不良孕娩史而就诊妇女进行梅毒血清学检测并以无不良孕娩史普通妇科门诊病人111例作为对照。结果:8例羊水梅毒PCR检测结果6例阳性,2例阴性。其中1例阳性者终止妊娠,胎儿病理解剖证实有梅毒感染。22例梅毒孕妇经治疗3例失访,1例早产,18例足月分娩,新生儿临床及血清学检查均未见异常。因不良孕娩史而就诊妇女梅毒血清学阳性率(14.56%),明显高于无不良孕娩史的普通妇科门诊病人(5.40%)(P<0.01)。结论:羊水PCR梅毒DNA检测是诊断先天梅毒较好的方法,妊20周前胎儿可感染上梅毒。患梅毒的孕妇应早期足量正规治疗以防治胎儿感染。梅毒是导致不良孕娩史的重要原因。     

Clinical and pathologic diagnosis and different diagnosis of syphilis cervical lymphadenitis

Purpose: To study the clinical pathologic characteristics and differential diagnosis of syphilitic cervical lymphadenitis, and to improve the rate of its diagnosis and treatment. Methods: Retrospectively analyzed the clinical history, Trepone pallidum-ELISA (TP-ELISA), rapid plasma regain test (RPR) and routine pathological examination of the patient diagnosed as syphilis lymphadenitis. And review related literatures. Results: The main clinical presentation was multiple palpable cervical lymph nodes. The multiple nodes were hard, fixed, and the major diameter of the larger one was 2 cm. The main pathological changes included: the capsule was significantly thickened; reactive hyperplasia of lymphoid follicular with sky star phenomenon; occlusive endovasculitis; perivascular inflammation; the proliferation of epithelioid histiocytes can form granulomas with few multinucleated giant cells; few necrosis. TP-ELISA and RPR were positive. Conclusions: The pathological changes of syphilitic lymphadenitis have a variety of performance with relatively specific and suggestive alterations which requires a combination of clinical history and laboratory test before the diagnosis, and the clinicians can reduce misdiagnosis and missed diagnosis of the disease by increasing vigilance of it.     

The placental lesions in congenital syphilis

Summary Placentas from six mothers with serological tests suggestive of recent syphilitic infection and whose babies were suspected of being or proven to be infected by Treponema pallidum are described. One placenta from this series was large, bulky and pale, while the other 5 were without remarkable gross features. In all cases, the associated histological lesions were 1) hypercellular areas in the terminal and stem villi and 2) a focal peri- and/or intravillous polymorphonuclear concentration with or without necrosis. The former change which was the most frequent was characterized by an apparent increase of villous stromal cells, ultrastructurally indentified as mesenchymal cells and Hofbauer cells. In addition, numerous fetal monocytes were found in the villous vascular lumina. The findings described here and in the literature suggest that congenital syphilis is associated with a spectrum of placental changes. We believe that these changes depend on the immunological reaction of the fetus. According to the sequence of events described in untreated patients, we distinguish two morphological phases: 1) an inductive phase without placental changes and 2) a reactive phase characterized by a predominantly lymphocytic inflammatory infiltration of the villi, followed by a reaction of mononuclear phagocytes.     

围生期先天性心脏病的发生趋势及产前诊断

目的为了解围生期先天性心脏病（简称先心病）的发生趋势及产前诊断情况,为制定预防干预措施提供依据。方法选择2家市级医院于2003年10月至2006年9月对医院出生的孕28w至产后7天的围生儿包括活产儿、死胎、死产和治疗性引产儿进行先心病及相关因素监测。结果2003年10月至2006年9月共监测围生儿29589例,发现先心病351例,平均发生率为11．86‰,围生期先心病的发生率呈逐年上升趋势（χ^2=29．32,P〈0．01）,性别发生率无统计学意义。孕母年龄t〉30岁组的围生期先心痛发生率明显增加,尤其年龄≥35岁组（χ^2=24．73,P〈0．01）。351例先心病儿中产前诊断20例,占5．97％,主要类型为室间隔缺损伴心脏其它畸形、法洛四联症、完全性房室通道、大血管错位、永存动脉干与左心发育不良等,其中治疗性引产19例。结论开展围生期先心病监测及病因研究,减少先心病的发生,对提高出生人口素质和儿童生存质量有重要意义。重视母亲孕前与孕期干预工作,对有高危因素的孕妇尽早在孕28w前进行产前诊断,提高胎儿心脏超声诊断水平是目前提高先心病早期诊断的关键。     

先天性食道闭锁的围产期诊治

目的探讨先天性食道闭锁的围产期诊治。方法我院自1999年至2007年度收治32例先天性食道闭锁患儿,26例行手术治疗,6例放弃治疗。诊断明确后,于气管内全麻下经胸膜外或经胸腔行手术治疗,术后胃肠减压、支持治疗。结果26例手术患儿,有4例术后出现食道吻合口瘘。23例治愈存活。术后随访3月至8年,6例术后有食道吻合口狭窄,行球囊扩张治愈。1例术后1年内反复肺炎。结论通过产前诊断,产后及时手术治疗、以及对出现的术后并发症及时处理,有利于提高CEA的存活率及生存质量。     

卵巢子宫内膜异位囊肿的CT诊断

目的分析卵巢子宫内膜异位囊肿的CT表现，提高CT的诊断及鉴别诊断能力。方法回顾性分析经手术和病理证实的64例81个卵巢子宫内膜异位囊肿。结果囊肿直径2～12cm，平均5．8cm，囊肿边缘光滑14个，与周边粘连67个；囊液密度19～50HU，平均32HU。增强后囊肿壁呈轻中度强化14个，明显强化3个。结论CT能较大程度地显示卵巢子宫内膜异位囊肿的形态学特征，熟悉和掌握这些形态学特征是提高诊断正确率、避免误诊的关键。     

Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (less than 1%, 9.4% of the malformed). Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers. Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.     

先天性梅毒致先天性肾病综合征一例并文献复习

目的探讨先天性梅毒致先天性肾病综合征（CNS）的临床特征及治疗措施。方法先天性梅毒致先天性肾病综合征患儿1例.患儿,女,2月余,因呕吐腹泻5d,腹胀,水肿1d入院。回顾性分析该患儿临床资料,检索国内外文献,进行总结分析。结果患儿急性起病,主要表现为腹胀,水肿,呕吐腹泻,尿隐血3＋,蛋白3＋。生化蛋白降低,血脂升高,梅毒特异性抗体（TPHA）阳性,其母TPHA阳性.经青霉素治疗2周后,尿蛋白,血清蛋白基本恢复正常。检索国内外文献发现,先天性梅毒致先天性肾病综合征患儿均有梅毒接触史,临床以腹胀、水肿为主要表现,符合先天性肾病综合症的主要诊断标准。青霉素足量治疗,疗效较佳,不需激素治疗,预后良好。结论对于CNS伴腹胀,肝脾大患儿应考虑到先天性梅毒致肾病可能,应对患儿父母进行梅毒血清学检查,以期早期确诊.及时足量青霉素治疗是关键。     

The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016

The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997 to 2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines. Analysis was restricted to malformations that are potentially detectable by prenatal diagnosis. The effect of prenatal diagnosis on outcome (death vs live birth) was estimated using a regression model. Main results indicate that prenatal diagnosis was performed in 56.1% (n?=?7605) of all registered cases. At least one malformation was detected for the first time through ultrasound (47.4%), invasive tests (5.6%) and other tests (2.2%). When analysed severe CA, 54.2% was detectible by prenatal ultrasound distributed as follows: 17.4% were diagnosed before 14 weeks of gestation, 47.6% between 14 and 23 weeks and 35.0% with 24 or more weeks of gestation. TOPFA was the option for 21.3% of these CA.Over the 20 years of analysis, there was a statistically significant increase trend in the detection rate of congenital anomalies through prenatal diagnosis compared to detection at birth or after birth (p?<?0.001).After adjusting for confounding (year, maternal age, presence of more than one malformation), prenatal diagnosis was associated with more severe outcomes (TOPFA, 40.3%; Death 3.5%) and increased the risk of the pregnancy ending in foetal death (OR?=?2.56; 95%CI?=?2.06–3.18). These results are in accordance that more severe anomalies are more easily detected prenatally.Considering the results, it is important to raise awareness about the importance of pregnancy planning and preventing the risk factors more associated with CA. More information about prognosis for children with congenital malformations is important for parents and health professionals after prenatal detection.     

The congenital basal cell adenoma of salivary glands Contribution to the differential diagnosis of congenital salivary gland tumours

Congenital epithelial tumours of the salivary glands are very rare. The Salivary Gland Registry maintained in the Department of Pathology, University of Hamburg, contains only three cases among a total of 6,646 salivary gland tumours from the years 1965–1994. The three cases were classified as congenital basal cell adenoma, two of the parotid gland and one of the submandibular gland. Histologically, the three adenomas were similar in structure to the adult counterpart of basal cell adenoma with solid, trabecular or tubular (duct-like) patterns. In some cystic spaces of the duct-like structures PAS- and Astra blue-positive substances were secreted. On immunocytochemistry, the luminal duct-like cells showed membranous expression of cytokeratins 3, 5, 6, 7, 13 and 19. In the isomorphic basaloid cells of the solid and trabecular cell nests few cells expressed cytokeratin. On the outside of the solid cell nests there were smaller elongated myoepithelial-like cells, which expressed cytokeratin 14 and vimentin. Cytokeratins 1, 2, 4 and 18 were not expressed. The pattern of expression reflects the different stages of maturity of the tumour cells and is related to the development of the salivary glands until the end of the 3rd embryonal month with an arrest of further cell differentiation. No acinic cells, invasive growth, recurrence or metastases were observed. The differential diagnosis includes other congenital salivary gland tumours, such as hybrid basal cell adenoma-adenoid cystic carcinoma, sialoblastoma or embryoma, carcinoma, hamartoma and teratoma.