新生儿先天性梅毒的临床分析与随访

目的重视新生儿先天性梅毒的危害性和早期诊断.方法分析5例新生儿先天性梅毒的临床特点,脏器损害发生情况及治疗、随访.结果除1例家属放弃治疗自动出院外,余4例存活并随访.于6个月时快速血清反应素环状卡片试验转阴,于1w岁时各脏器损害恢复正常,但梅毒螺旋体血凝试验持续阳性.结论新生儿先天性梅毒早诊断,正规青霉素治疗及保护脏器功能,支持疗法可改善预后.     

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。     

脾片网膜间移植术治疗12例遗传性球形红细胞增多症

遗传性球形红细胞增多症是一种常染色体显性遗传病,在我国先天性溶血性贫血中较常见,临床表现有贫血、黄疸、肝脾肿大或继发胆石症等,严重影响患者生长发育和生活质量。自1980年以来,本科共收治12例,均经手术治疗,预后良好。现结合文献复习,将其诊治体会报告如下。     

胎传梅毒致继发性先天性肾病综合征一例并文献复习

目的探讨胎传梅毒致继发先天性肾病综合征的诊断、治疗和预后,以提高临床医生对该病的认识。方法报告我院1例胎传梅毒继发先天性肾病综合征临床诊治过程、随访情况,对该患儿行超声引导下负压肾脏穿活检术,肾活检病理进行分析,并复习相关文献。结果患儿男,2个月起病,临床表现为肾病综合征、贫血、肺部感染、皮疹,尿常规:尿蛋白4+,潜血+。本例患儿其梅毒螺旋体定性滴度4倍于其母,肾活检病理结果回报,排除了由基因致的原发性肾病综合征,明确胎传梅毒继发先天性肾病综合征的诊断。停用糖皮质激素,经青霉素驱梅毒治疗14天,患儿全身无水肿,双侧腹股沟区少量结痂,尿常规:蛋白+-,潜血-。以"congenital syphilis"为关键词在万方数据库检索报道胎传梅毒致先天性肾病综合征,选取7篇国内文中报道典型18例梅毒性肾损害及临床资料完整者,仅有2例报道肾穿病理为非典型模性肾病,放弃3例,死亡2例,余13例临床给予驱梅治疗,经随访效果良好。结论婴儿期起病为主,临床以肾病综合征现象为突出表现,伴肝脾大、皮疹、贫血感染现象等,应考虑到梅毒肾病可能,需对患儿父母进行梅毒血清学检查,明确病理诊断后给予驱梅疗法,而非激素治疗。本例患儿早期经足量足疗程驱梅治疗疗效佳,预后良好。     

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。     

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…     

神经梅毒17例临床分析

目的分析神经梅毒的临床特征和早期诊断依据。方法回顾性分析我院17例神经梅毒的临床特征、血清、脑脊液改变及影像学表现。结果本组无症状神经梅毒5例,梅毒性脑膜炎1例,脑膜血管梅毒2例,耳神经梅毒1例,麻痹性痴呆6例,脊髓痨1例,视神经萎缩1例。17例血清TRUST及TPPA均为阳性,CSF-VDRL阳性者12例。7例在治疗后1～6月复查脑脊液的各项指标,白细胞计数和蛋白含量均下降或转阴,而CSF-VDRL试验仅1例转阴。结论未能早期发现和治疗梅毒是导致神经梅毒的重要因素。神经梅毒的临床表现多种多样,容易误诊,梅毒血清及脑脊液检查是诊断的必要依据。脑脊液白细胞计数与蛋白含量是监测神经梅毒疗效的较敏感指标,应争取早期诊断、早期治疗以改善预后。     

神经梅毒17例临床分析

目的 分析神经梅毒的临床特征和早期诊断依据.方法 回顾性分析我院17例神经梅毒的临床特征、血清、脑脊液改变及影像学表现.结果 本组无症状神经梅毒5例,梅毒性脑膜炎1例,脑膜血管梅毒2例,耳神经梅毒1例,麻痹性痴呆6例,脊髓痨1例,视神经萎缩1例.17例血清TRUST及TPPA均为阳性,CSF-VDRL阳性者12例.7例在治疗后1～6月复查脑脊液的各项指标,白细胞计数和蛋白含量均下降或转阴,而CSF-VDRL试验仅1例转阴.结论 未能早期发现和治疗梅毒是导致神经梅毒的重要因素.神经梅毒的临床表现多种多样,容易误诊,梅毒血清及脑脊液检查是诊断的必要依据.脑脊液白细胞计数与蛋白含量是监测神经梅毒疗效的较敏感指标,应争取早期诊断、早期治疗以改善预后.     

41例先天性TORCH感染的临床分析

目的　为探讨先天性TORCH感染的临床表现 ,本文分析了我院新生儿科 1 994年 5月至 2 0 0 1年 5月收治的先天性TORCH感染 41例 ,占同期住院新生儿的 1 66 %。方法　用ELISA法测TORCH抗体或PCR法测相关TORCHDNA。结果　巨细胞病毒感染率最高 ,为 68 2 9%,其次是弓形虫感染 ,占 1 2 2 0 %。临床表现以黄疸 ,贫血 ,肝脾肿大最多见。结论　先天性TORCH感染可造成新生儿多脏器损害 ,母孕期普查相当重要。     

先天性肾病综合征4例报告

先天性肾病综合征(ｃｏｎｇｅｎｉｔａｌｎｅｐｈｒｏｔｉｃｓｙｎｄｒｏｍｓ,ＣＮＳ)是指出生后3-6个月内起病的肾病综合征,预后极差。在治疗上对类固醇激素和免疫抑制剂均无效应。我院近年来收治4例,临床表现疗效与文献报道有所不同,现报告如下。临床资料一、一般资料:4例中男3例,女1例。入院日龄7天-2月,3例足月产,1例过期产,出生时体重3-3.5ｋｇ,无窒息史。4例先天性肾病中有1例患先天性梅毒继发性肾病。以上病便均符合ＣＮＳ的诊断标准[1]。二、母亲因素:1例ＴＰＨＡ试验阳性,余在孕期无异常表现。三、临床表现:见下表表　ＣＮＳ病例临…     

Congenital syphilis presenting in infants after the newborn period

BACKGROUND AND METHODS. There has been a recent, dramatic increase in the incidence of congenital syphilis, particularly in urban areas. We describe seven infants seen during one year who were first given a diagnosis of congenital syphilis at 3 to 14 weeks of age, when symptoms developed. We reviewed these infants' charts in order to ascertain the reasons for the failure to diagnose syphilis at birth and to identify the signs and symptoms of congenital syphilis in this group of infants. RESULTS. At delivery, four of the infants and their mothers had negative qualitative rapid-plasma-reagin tests for syphilis. The other three mothers had been seronegative during the pregnancy and were therefore not tested at delivery; two of their infants were seronegative at birth, and one was not tested. When the infants became symptomatic between 3 and 14 weeks of age and were admitted to the hospital, all seven infants and the five mothers available for testing were found to be seropositive for syphilis. Four infants presented with a characteristic diffuse rash; the other three presented with fever and were found on admission to have aseptic meningitis. All these infants had multisystem disease, as evidenced by hepatomegaly, increased aminotransferase and alkaline phosphatase levels, anemia, and monocytosis. In all the infants syphilis responded to parenteral penicillin. CONCLUSIONS. Congenital syphilis may be missed if serologic tests are not performed for both the mother and her infant at the time of delivery. Even when these tests are performed, some infants are not identified as having syphilis, probably because the infection is very recent and there has been insufficient time for an antibody response to develop. Some infants with congenital syphilis of later onset do not present with a typical rash; therefore, at least in areas where the disease is prevalent, serologic tests for syphilis should be included in the evaluation of all febrile infants, even those with negative results on serologic testing at birth.     

Clinicopathological study of pleomorphic xanthoastrocytoma: correlation between histological features and prognosis

The correlation between histopathological characteristics and prognosis was studied in six cases of pleomorphic xanthoastrocytomas (PXA) found in five patients. With regard to the duration from onset to the resection of the tumor, and the postoperative course, three cases had a favorable prognosis, although one case fatally recurred and in another, serial CT showed rapid tumor growth for 3 years. The histological characteristics of the favorable group of PXA comprised remarkable degeneration, low mitotic activity and a low MIB-1 labeling index. In contrast, the characteristics of the latter two cases of PXA rarely showed degeneration, had atypical mitoses, increasing mitotic activity and a higher MIB-1 labeling index, which indicates that the findings of degeneration, atypical mitoses, mitotic activity and MIB-1 labeling index correlate with the biological behavior of PXA. However, with regard to histological appearance and clinical course, PXA are tumors with a wide range of biological behavior.     

早发型先天性骨梅毒的X线诊断

目的探讨先天性早发型骨梅毒X线表现及其特点。提高对早发型先天性骨梅毒的认识。方法回顾性分析近4年临床资料较完整，均有四肢长骨x线检查资料，并经血清学证实为先天性早发型骨梅毒27例。结果按照病变累及的部位分为干骺端炎：骨干炎、骨膜炎。27例均有干骺端炎，主要表现为先期钙化带不规则增厚及其下方的透亮横带；6例有骨干炎。显示轻度的斑片状和虫蚀状骨质破坏，以及皮质增厚为主的骨质增生；18例有骨膜炎，显示层状、葱皮状骨膜增厚。骨骺及颅骨、椎骨、肋骨一般不累及。结论四肢长骨摄片应作为评估新生儿先天性骨梅毒的一种重要手段，可以早期发现新生儿先天性梅毒骨损害及其受累程度，有助于临床进行及时治疗。     

MRI辅助诊断胎儿脑积水的价值

目的探讨MRI(磁共振,magnetic resonance imaging)在胎儿脑积水的早期诊断与判断预后的价值。方法对26例产前经B超检查发现或怀疑为脑积水的胎儿(轻度25例,重度1例)进行MRI扫描,予查血染色体,生后定期复查患儿脑积水变化,并根据生长发育测量指标与贝利发育量表评价生长发育情况。结果经MRI检查,确诊轻中度脑积水23例,重度2例,正常1例,其中有4例B超疑似的轻度脑积水经MRI确诊,有1例经MRI扫描未发现脑积水;继续妊娠18例,1例因"肺发育不良"死亡,存活17例;5例在生后6月或纠正胎龄6月时经贝利小儿智力发育量表测定稍低于正常,经功能锻炼和/或药物治疗后再次贝利发育量表测定均达到正常水平,12例测定正常。结论在诊断胎儿中枢神经系统畸形时,MRI具有较高的阳性率,能准确的反映脑积水的程度,未合并其他畸形且不伴有染色体异常的单纯性轻、中度胎儿脑积水预后较好,MRI可作为胎儿脑积水产前诊断的重要补充。     

小儿常染色体隐性遗传多囊肾病临床分析

目的探讨小儿常染色体隐性遗传多囊肾病（autosomal recessive polycystic kidney disease，ARPKD）的临床特点。方法回顾我院1995年1月～2006年12月收治的16例小儿ARPKD的临床资料。结果16例ARPKD中，男11例，女5例，影像学诊断14例，病理学诊断2例，肾脏影像学显示囊肿广泛分布于皮质和髓质。起病时以泌尿系症状就诊仅7例（43．75％），以肾脏外症状就诊3例（18．75％），其他就诊原因包括早产1例，出生时重度窒息1例，血尿素氮-肌酐（Bun—Cr）升高2例，贫血1例，外伤后肾囊肿破裂性腹痛1例。确诊时有12例（75％）肾衰竭，8例（50％）生长迟缓，10例（62．5％）合并肾脏外病变。随诊8例，4例死亡（分别死于先天性肺发育不良、重度窒息后多器官功能衰竭、进行性肾衰竭以及终末期肾病合并胆管细胞癌肾脏转移），1例透析，1例肾移植，1例肾功能正常，1例肝硬化。结论ARPKD为先天遗传性、进行性的肾脏和肝脏损害，小儿期临床表现形式多样，产前诊断对减少ARPKD畸形儿的出生有重要意义。     

Enzyme-linked immunosorbent assays for detection of immunoglobulin M to nontreponemal and treponemal antigens for the diagnosis of congenital syphilis.

Sera from newborn infants born of mothers with a high risk of syphilis were examined for immunoglobulin M (IgM) antibodies in two different enzyme-linked immunosorbent assays (ELISAs), using either purified flagella from Treponema phagedenis biotype Reiter or the Venereal Disease Research Laboratory (VDRL) antigen as the antigen. All sera were also examined by the fluorescent treponemal antibody absorption (FTA-ABS) test for IgM. Three different groups of patients were studied. Group 1 consisted of 84 women and their newborn infants from a high-risk population for syphilis. Congenital syphilis was diagnosed in one child who had an IgM-positive cord blood specimen in both the ELISA and the FTA-ABS test. Group 2 consisted of 10 mothers and their newborn children. All mothers had positive syphilis-screening tests, and all children had signs of congenital syphilis. All but one child had positive IgM tests. Group 3 consisted of 15 mothers and their newborn children. These mothers had been treated for syphilis late in pregnancy, and all had a positive screening test at delivery. Two of the children had positive IgM tests, probably caused by reactivity after late intrauterine treatment of congenital syphilis. The specificities of the IgM tests were high when evaluated with sera from newborn children without signs of congenital syphilis. Even though IgM rheumatoid factor was found in all of the children tested with definite congenital syphilis, the rheumatoid factor did not cause false-positive results in either the VDRL ELISA or the flagellum ELISA. No significant IgG-IgM competition was noticed in the ELISAs. This study also confirmed that IgA antibodies do not cross the placenta; most newborn children with congenital syphilis were positive in the VDRL ELISA for IgA. Both the VDRL ELISA and the flagellum ELISA are very useful in the diagnosis of congenital syphilis and may be substitute for the FTA-ABS test. The VDRL ELISA for IgM will be especially useful in developing countries with a high incidence of congenital syphilis.     

Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation

We describe the clinical manifestations and molecular cytogenetic analyses of three patients with a similar distal deletion of chromosome 8. Each child had mild developmental delay and subtle minor anomalies. Two had cardiac anomalies but no other major congenital anomalies were present. High resolution G and R banding showed in all three patients del(8)(p23.1), but the breakpoint in case 1 was distal to 8p23.1, in case 2 was in the middle of 8p23.1, and in case 3 proximal to 8p23.1. Fluorescence in situ hybridization (FISH) studies with a chromosome 8 paint probe confirmed that no other rearrangement had occurred. FISH with a chromosome 8-specific telomere probe indicated that two patients had terminal deletions. Chromosome analysis of the parents of case 1 and mother of case 2 were normal; the remaining parents were not available for study. Thirteen individual patients including the three in this study, and three relatives in one family with del(8)(p23.1), have been reported in the past 5 years. Major congenital anomalies, especially congenital heart defects, are most often associated with a breakpoint proximal to 8p23.1. Three patients were found within a 3-year period in this study and five cases were found within 4 years by another group, indicating that distal 8p deletion might be a relatively common chromosomal abnormality. This small deletion is easily overlooked (i.e., cases 1 and 2 were reported as normal at amniocentesis) and can be associated with few or no major congenital anomalies. © 1996 Wiley-Liss, Inc.     

双胎输血综合征宫内治疗的探讨

目的探讨双胎输血综合征（TTTS）的诊断、分期，评价宫内治疗的可行性及临床效果。方法对双胎输血综合征病例进行诊断分期，并且行系列羊水减量等宫内治疗。结果邢严重程度的分期是决定TTTs治疗效果和围产儿预后的重要因素。诊断时分期越高，围产儿死亡率越高。Ⅰ-Ⅱ期TTTs患者，经羊水减量术治疗后，孕龄延长，胎儿预后好。结论尽可能早地确立诊断和临床分期有助于评估预后和临床处理。羊水减量术治疗TTTs，可操作性强，有较好的治疗效果。     

Conjunctival melanotic lesions in Chinese: comparison with Caucasian series.

Conjunctival melanotic lesions in Chinese were studied and compared with those of Caucasians. These lesions were diagnosed in Chinese patients over a two-year period. They were excised under the clinical diagnoses of nevi, primary acquired melanosis (PAM) and malignant melanoma. For the cases included, the histology slides and clinical information were reviewed. Eighteen cases of nevi and nine non-nevoid lesions were identified. Among the non-nevoid lesions, there were eight cases of basal cell hyperpigmentation (one congenital, five acquired, two unknown) and one malignant melanoma. Benign or atypical melanocytic hyperplasias (MH) were not seen. This pattern is very different from that of Caucasian series. Acquired hyperpigmentation is almost only seen in Chinese and seldom in Caucasians. On the other hand, atypical MH is only seen in Caucasians, and not in Chinese. We conclude that conjunctival hyperpigmentation is associated with ethnicity and does not progress to MH, whether benign or atypical. It should be recognised as a distinct entity of no malignant potential that is part of the PAM clinical spectrum.