无心畸形胎儿3例临床病理分析

目的 观察无心畸形胎儿的临床病理形态,并对其发生进行分析.方法 对3例无心畸形胎儿的临床表现、外形和内脏结构以及胎盘形态进行观察与分析.结果 3例无心畸形胎儿分别来自双胎与三胎妊娠,2例无头,均为单体腔,可见发育不良的肠管以及肾上腺,其它脏器为:肾脏2例,性腺与内生殖器2例,心脏胚基1例,肝脏胚基1例.胎盘为单绒毛膜型,2例有大血管吻合与单脐动脉.结论无心畸形胎儿有多种形态,其发生与双胎胎盘的血管吻合有密切关系.     

系统产前超声诊断双胎妊娠绒毛膜性和羊膜囊数并胎儿畸形的价值

目的探讨系统产前超声在诊断双胎妊娠绒毛膜性和羊膜囊数并胎儿畸形方面的临床价值。方法对在我院2011年1月至2013年12月共388例双胎妊娠的系统产前超声资料进行整理分析,并与产后随访结果对照。结果 388例双胎妊娠中,双绒毛膜双羊膜囊双胎胎儿畸形11例,发生率6.17%;单绒毛膜双羊膜囊双胎胎儿畸形27例,发生率19.14%;单绒毛膜单羊膜囊双胎胎儿畸形6例,发生率8.69%。单绒毛膜双羊膜囊双胎胎儿畸形发生率最高。结论系统产前超声诊断双胎妊娠绒毛膜性和羊膜囊数与胎儿畸形的发生有密切关系,对临床及时干预与优生优育有重要的指导作用。     

单绒毛膜双胎异常的产前超声诊断价值

目的探讨单绒毛膜双胎异常的产前超声诊断的应用价值。方法对我院2010年1月至2014年12月确诊的单绒毛膜双胎的产前超声进行分析,结合相关资料,与临床随访结果对照。结果 138例单绒毛膜双胎中,异常28例,占20.3%。胎儿畸形9例,占6.5%:联体双胎畸形2例,无脑儿1例,开放性脊柱裂伴脊膜膨出1例,先天性心脏畸形5例;并发症19例,占13.8%:无心畸胎3例,双胎输血综合征9例,脐带缠绕1例,选择性宫内生长受限5例,贫血-多血序列征1例。双胎之一死亡2例,双胎均死亡4例。结论产前超声在单绒毛膜双胎异常诊断、临床干预时机选择、改善围产儿结局有重要应用价值。     

超声诊断胎儿单脐动脉的临床意义

目的通过对单脐动脉胎儿的检查与随访,探讨单脐动脉的临床意义。方法进行产前超声检查的胎儿24018例,超声检查胎儿各系统结构及胎盘羊水情况,观察脐带的腹腔段、游离段及胎盘附着部。结果 24018例胎儿中检出单脐动脉胎儿47例,检出率为0.2%,其中单纯的单脐动脉23例,合并其它系统结构畸形者24例。5例单脐动脉胎儿进行了染色体核型分析,其中2例有染色体异常,3例未见异常。结论单脐动脉与胎儿先天性畸形有密切关系,单脐动脉可做为胎儿先天异常的一个软标记,超声医生应重视其重要性。     

妊娠晚期胎儿宫内死亡196例临床分析

目的与方法探讨胎儿宫内死亡的原因及处理方法回顾性分析，1995年～1999年本院收治的196例胎儿宫内死亡原因及诊治过程。结果5年本院共分娩18586例，死胎196例，占10．5％o，其中单胎死亡177例，占90．31％，均行利凡诺尔引产，胎儿宫内死亡的主要原因胎盘因素29例（帆状胎盘4例），脐带因素6例，溶血8例，子宫破裂1例，羊水因素8例，不明原因115例，双胎之一胎儿宫内死亡共19例，发生率是7．1％，8例即行剖宫产，11例经治疗自娩。平均治疗7w主要死亡原因脐带因素5例，胎儿畸形1例，帆状胎盘3例，原因不明10例，其中单卵双胎13例，双卵双胎4例，不详2例。结论胎盘因素和脐带因素是胎儿宫内死亡的首要原因，早期双胎之一胎儿死亡后存活儿预后较好，应积极治疗及时终止妊娠。     

单绒毛膜双羊膜囊(MCDA)双胎之一发生结构畸形的临床特点分析

目的研究分析单绒毛膜双羊膜囊(MCDA)双胎之一发生结构畸形的临床特点。方法回顾性分析我院从2015年5月～2019年1月收治的MCDA双胎之一结构畸形孕妇80例进行研究。分析胎儿结构畸形情况[主要包括神经系统、心血管系统、双胎反向动脉灌注序列征(TRAPS)、泌尿系统、骨骼系统、呼吸系统、淋巴细胞以及颜面颈部等],产前诊断情况以及妊娠结局特点,并分析期待治疗孕妇继发双胎输血综合征与胎儿存活率的关系。结果 80例MCDA双胎之一发生结构畸形胎儿最为常见的畸形情况为神经系统、心血管系统、TRAPS畸形,占比分别为35.00%、28.75%、10.00%。80例MCDA双胎之一发生结构畸形孕妇中,66例行产前诊断胎儿染色体核型分析,其中双胎染色体核型不一致仅1例,占比1.52%,单一胎儿染色体结构异常共有4例,占比6.06%。80例孕妇中引产、减胎、期待治疗占比分别为5.00%(4/80)、38.75%(31/80)、56.25%(45/80);其中选择减胎孕妇至少有一胎存活人数占比为61.29%(19/31)、选择期待治疗孕妇至少有一胎存活人数占比为81.82%(36/45),两组比较差异有统计学意义(P0.05)。结论 MCDA双胎之一结构畸形多见于神经系统、心血管系统、TRAPS畸形,其中选择期待治疗相较于选择减胎可能更具优势,值得临床重点关注。     

无心畸胎序列征一例报道及文献复习

目的加强对无心畸胎序列征的认识。方法总结我院29年1648例尸解,仅检出一例无心畸胎序列征,报道并做回顾性文献复习。结果胎盘内两胎儿之间存在较大的血管吻合,畸胎脐血管两根(单脐动脉),胎膜见羊膜结节,畸胎为不规则球形团块,内有脊柱及软骨组织,表面有皮肤及附件结构。结论无心畸胎序列征是一种严重的致死性畸形。     

妊娠晚期突发意外性胎死宫内原因分析

目的分析妊娠晚期突发意外性胎儿宫内死亡原因,为进一步改善国产期保健工作、减少医患矛盾提供依据.方法应用回顾性分析方法,对1998年以来在辽宁地区发生的突发意外性胎儿宫内死亡522例进行临床原因分析.分析指标包括:孕妇年龄、孕周、孕产次、是否进行系统孕期保健和产前检查、胎死宫内距最后一次产前检查时间、临床分析及生化、病毒、遗传检测和胎儿尸体解剖结果,进行综合判定胎儿死亡原因.结果单胎妊娠胎儿宫内死亡的发生率为0.54%,双胎妊娠胎儿宫内死亡的发生率为0.97%,两者比较P＜0.01;胎儿宫内猝死在进行系统孕期保健孕妇和未进行系统孕期保健孕妇均有发生,比例为46.55%对比53.45%;引起胎儿宫内猝死原因如下:脐带因素占48.28%、胎儿因素占20.50%、胎盘因素占12.45%、宫内感染因素占3.07%、妊娠合并症和并发症占7.47%、羊水异常占2.87%、不明原因占4.02%、双胎输血综合征为双胎妊娠特有并发症,占双胎死亡原因的14.89%.结论1.双胎患者发生妊娠中晚期突发意外性胎儿宫内死亡率高于单胎妊娠;2.系统围产期保健不能避免胎儿宫内猝死,胎儿宫内猝死常具有较大的不可预见性和无法避免性;3.引起胎儿宫内猝死的原因众多,但脐带因素、胎儿及胎盘因素是主要原因.     

超声诊断早孕期双胎胎儿单腔心畸形的临床价值

目的探讨早孕期双胎胎儿心脏畸形的产前超声诊断的临床价值。方法收集近四年来发现的7例双胎胎儿的单腔心畸形,并与引产及尸检病检对照。结果 7例首次检查时超声诊断为胎儿心脏畸形,均有NT增厚,再次超声检查时纠正诊断为单腔心畸形。结论超声是产前诊断双胎胎儿单腔心畸形的最早检查方法,再次超声检查明确畸形类型,并应用CDFI提高超声诊断的准确性。对早孕期双胎胎儿NT增厚者,更应注意心脏畸形,对临床及早处理或孕妇继续妊娠与否提供有效的帮助。     

双胎妊娠一胎死宫内原因及期待治疗的探讨

目的 探讨双胎妊娠中1胎死于宫内的死因及对母亲和存活胎儿的影响.方法 对1996年1月至2006年12月在我院分娩的双胎之一为宫内死胎的23例产妇临床资料进行回顾性分析.结果 双胎之一为宫内死胎的发生率占双胎的4.72%,其中单绒毛膜双胎14例,占60.87%,双绒毛膜双胎9例,占39.13%(519).胎儿死因脐带因素占34.79%,胎盘因素8例占34.8%,妊娠并发症5例占21.7%,双胎输血综合征2例占8.7%,胎儿畸形1例占4.35%(219),不明原因6例占26.09%.期待治疗最长达72天,双胎之一胎死官内后对母体的凝血功能影响不大.结论 脐带异常、胎盘异常是胎死宫内的重要原因;双胎之一胎死宫内对母体及存活儿有一定影响.但孕周小,胎儿尚不成熟,行期待治疗可延长孕龄至足月,以提高围生儿的存活率.     

Cyclopia, aprosencephaly, and acardiac twinning: Is hypoxia-ischemia a unifying mechanism?

In a recent case of monochorionic diamniotic twinning we observed one twin with acardia, cyclopia, and aprosencephaly, an association not reported previously. In most cases of acardia, the development of tissues in superior regions of the body is disrupted severely, while inferior structures develop more normally. A common explanation for this disruption is hypoxia-ischemia due to twin reversed arterial perfusion (TRAP). In this condition, arterial-arterial and venous-venous anastomoses in the placenta permit twin-twin transfusion and reversal of blood flow in the umbilical vessels and aorta of the recipient twin. The heart is absent or severely deficient, either by secondary atrophy or possibly a more primary, though currently unknown, mechanism. As a result, cranial tissues are less likely to be perfused with oxygenated blood than caudal tissues. A host of craniocerebral anomalies are observed in acardia, including total absence of the head and brain, rudimentary brain, anencephaly, holoprosencephaly, neuronal migration defects, and near-normal brain. Hypoxia-ischemia could be an important factor in the disruption of tissues in the present case, although a more generalized process affecting heart, head, and brain cannot be excluded. The findings suggest that hypoxia-ischemia may play a role in the pathogenesis of some cases of holoprosencephaly and aprosencephaly. This mechanism has been underreported and requires additional investigation.     

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research

Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth Defects Surveillance and Research (Clearinghouse), and compare these findings to current literature. The study included 17 surveillance programs of the Clearinghouse representing 23 countries from North and South America, Europe, China, and Australia. Anonymized individual records with clinical and demographic data were reviewed centrally by clinical geneticists. A literature search was performed. A total of 164 cases of acardia were reported from an underlying cohort of 21.2 million births. Of these, 23% were elective pregnancy terminations. Rates did not vary significantly by maternal age. For many cases, information on pregnancy exposures and genetic testing was missing. However, these limited data did not suggest high rates of chronic illnesses (diabetes, seizure disorders) or lifestyle factors such as smoking. One case had trisomy 13. Major malformations were reported in 2.4% of co-twins. With some basic assumptions, the total prevalence of acardia was estimated at 1 in 50,000-70,000 births, and 1 in 200-280 monozygotic twins. In summary, acardia is a dramatic, probably underreported, and incompletely understood malformation. Studies on its epidemiology and etiology are challenging and still rare. An international collaboration of epidemiologists, clinicians, and geneticists is necessary to understand the etiology, pathogenesis, and occurrence of this severe malformation complex.     

Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy

Dichorionic placentation is observed in both monozygotic (MZ) and dizygotic (DZ) twinning, while monochorionic placentation is unique to MZ twinning. Examinations of monochorionic twin placentas frequently reveal the presence of vascular anastomoses between the two fetal circulations; such anastomoses rarely occur in dichorionic placentas. Consequently, abnormalities resulting from placental vascular communications are almost exclusively observed in MZ twin pairs with monochorionic placentas. We report opposite-sex DZ twins in which vascular anastomoses occurred within a fused dichorionic placenta and were associated with vascular disruptions in one twin. The liveborn male twin had amelia, cutis aplasia, and XX/XY blood chimerism; the female twin died in utero.     

Secretory carcinoma of the breast: a tumour analogous to salivary gland acinic cell carcinoma?

AIMS: Acinic cell-like breast carcinoma is a newly recognized entity, and few acinic cell-like breast carcinoma cases have been reported. All reported acinic cell-like breast carcinomas were counterparts of the solid type of acinic cell carcinoma of the salivary gland. We report here three cases of secretory breast carcinoma with acinic cell differentiation, and discuss the similarity between secretory breast carcinoma and acinic cell carcinoma of the salivary gland. METHODS AND RESULTS: The cases were histologically identical to acinic cell carcinoma of the salivary gland: papillary-cystic type in case 1, a mixture of papillary-cystic, microcystic and follicular type in case 2, and microfollicular type in case 3. Immunohistochemically, the tumour cells were positive for salivary-type amylase, lysozyme, S100 protein and alpha 1-antitrypsin, and negative or less reactive for gross cystic disease fluid protein-15 and oestrogen receptor. All three cases did not reveal metastasis or recurrence. CONCLUSIONS: These cases were typical of secretory breast carcinoma, and were clinically, histologically and immunohistochemically analogous to acinic cell carcinoma of the salivary gland. We emphasize that secretory breast carcinoma and acinic cell carcinoma of the salivary gland may be identical lesions.     

Pathologic findings in the adrenal glands of autopsied patients with acquired immunodeficiency syndrome

A morphologic evaluation was carried out on adrenal glands from 128 autopsied patients with the acquired immunodeficiency syndrome (AIDS). The adrenal gland was compromised in 99.2% of the cases, with distinct pathological features and infectious agents. Inflammatory infiltrates were observed in 99.2% of the cases with a predominance of mononuclear cells in 97.4%, affecting mainly the medulla. Necrosis, fibrosis, hemorrhages and neoplasias were observed. We also described 3 (2.3%) cases of calcification located in the adrenal gland central vein (AGCV). This is seldom mentioned in the literature. Cytomegalovirus was the most frequent infectious agent, observed in 48.4% of cases. Balamuthia mandrillaris, a free living ameba, was found in one case affecting the entire gland. We also found a nest of Trypanosoma cruzi in the musculature of the AGCV. The presence of the nest of T cruzi in AGCV may play a role in the reactivation of this infection in immunosuppressed individuals. Pathologic processes and opportunistic infections may contribute to the alterations in the adrenal gland that lead to multiple organ failure observed in terminal AIDS patients.     

移植后淋巴组织增生性疾病的临床病理分析

目的探讨移植后淋巴组织增生性疾病（PTLD）的临床及病理特征,提高其诊断和治疗水平。方法对4例移植后淋巴组织增生性疾病行HE和免疫组织化学EnVision法染色、原位杂交及聚合酶链反应,复习其临床资料并随访。结果4例中3例是肾移植后,其中2例为多形性PTLD,1例为单形性PTLD;另1例是异体骨髓移植后PTLD的“早期”病变。2例EB病毒阳性。4例移植后所用免疫抑制剂均以环孢A类药为主,辅以激素。例1～4从移植到诊断PTLD的时间为42、7、129、2个月。例3多形性PTLD的临床分期为Ⅱ期（诊断PTLD后2个月死亡）;其余均为Ⅰ期。均存活,诊断PTLD后生存期为40（例1）、26（例2）、5（例4）个月。结论PTLD是发生在器官移植后,具有独特的形态和临床特征的淋巴组织增生性疾病,部分病例与EB病毒感染有关。其预后与临床分期相关,免疫抑制剂减量可能有效。     

Flow cytometric diagnosis of partial mole.

To differentiate histologically partial hydatidiform moles (PM) and complete hydatidiform moles (CM) may be difficult. Cytogenetic studies have shown that PMs often had a triploid karyotype while CMs were always diploid. We assessed the DNA content of 31 paraffin-embedded cases of trophoblastic disease with flow cytometry. Twenty-four cases were histologically diagnosed as PM, 3 cases as CM; the others as hydropic abortion (2 cases), choriocarcinoma (1 case), and persistent trophoblastic disease (1 case). Four normal term placentas were used as diploidy controls. In 9 cases the results of the cytogenetic analysis were available. All placental specimens included also maternal tissue as an internal control. Eight of the 24 histologically diagnosed PMs were triploid; there was agreement in 8 cases out of 9 (90%) between the flow cytometric analysis and the karyotypic determination of ploidy. All normal controls as well as the hydropic abortion, the CM and the persistent trophoblastic disease were diploid. Abnormal content of DNA (DI = 1.3) was observed in the choriocarcinoma. Our results show that flow cytometric analysis of DNA content is a reliable and fast method of diagnosing PM on paraffin-embedded material.     

Lymphoepithelioma-like salivary gland carcinoma in Taiwan: a clinicopathological study of nine cases demonstrating a strong association with Epstein–Barr virus

Aims : Lymphoepithelioma-like carcinoma (LELC) of the salivary glands is a rather rare tumour. Previous studies have shown its strong association with Epstein–Barr virus (EBV) among Chinese and Eskimos. We tested this observation with nine Chinese patients with salivary gland LELC in Taiwan including one with coexisting nasopharyngeal carcinoma (NPC) and studied the prognostic significance of their histopathological features. Methods and results : This series showed a predilection for female patients and parotid glands with a median age of 50 years. Three patients died 18.5–26 months after the diagnosis including the case with NPC. Six patients were alive without recurrence for 14–45 months with a median follow-up of 34.5 months. Histopathologically, the tumours showed either lobular or diffuse growth pattern. Granulomas and/or germinal centres were observed in most cases and both B- and T-cells were found in the lymphoid infiltrates, indicating that the salivary gland LELC was capable of inducing a strong host immune reaction. Microscopic growth pattern, lymph node metastasis, and presence or absence of granulomas and/or germinal centres seemed to be important prognostic factors. Both salivary gland LELC and NPC shared similar histopathological appearance and positive immunostaining for epithelial membrane antigen and cytokeratin AE1 but not AE3. Granulomas and amyloid might occur in both tumours. A nasopharyngeal examination is indicated in patients with salivary gland LELC to exclude the possibility of coexisting or metastatic NPC. All nine cases showed positive nuclear signals for EBV-encoded RNA by in situ hybridization including the case with NPC. Conclusions : Our study and the previously published studies show that the association of salivary gland LELC and EBV is strongly related to racial and geographical factors.     

Immunophenotypic heterogeneity of hyalinizing trabecular tumours of the thyroid

 

Aims:

We studied 12 cases of hyalinizing trabecular tumour of the thyroid gland (HTT) with the aim of reviewing the cytological, histological and immunophenotypic features and of investigating the relationships of HTT with other thyroid neoplasms.  

Methods and results:

Eleven patients were female and one male, aged 8–74 years (median 58). Ten cases had a benign behaviour, while two cases were locally aggressive. Of the latter, one developed distant metastases and the other is a recent case. All patients are alive 6–311 months after diagnosis. Cytologically, HTT was characterized by hypercellular smears with aggregates of roundish cells having features of papillary carcinoma (nuclear grooves, vacuoles) and fragments of fibrous tissue. Histologically, prominent nesting, trabecular growth patterns and a hyaline stroma (partly positive for laminin and collagen type IV) were found. One case was associated with a papillary microcarcinoma. Two additional cases had extensive areas of papillary carcinoma. In one of these, hyalinized papillary stalks were observed. All tumours contained thyroglobulin but not calcitonin. High molecular weight cytokeratin (a marker of papillary carcinoma) was focally positive in 4/12 cases only and thyroperoxidase (a marker of follicular adenomas, but not of papillary carcinoma) was found in 3/12 cases.  

Conclusions:

The immunophenotypic profile and the morphological features suggest that HTTs are an heterogeneous group of tumours, some of them probably representing variants of papillary carcinoma with hyalinized stroma.