胎膜早破并发胎盘早剥的临床分析

目的　探讨妊娠晚期胎膜早破并发胎盘早剥的发生率、早期诊断和处理要点。方法　回顾分析2 0 0 1年～2 0 0 4年郑州大学第三附属医院产科分娩的胎膜早破病例,其中并发胎盘早期剥离者8例,与非胎膜早破发生胎盘早剥者进行比较。分析早期诊断和母婴结局。结果　3年分娩总数为4 12 4例,胎膜早破并发胎盘早剥者占全部胎盘早剥的2 8 6 % ,胎膜早破是胎盘早剥的首位发病诱因。胎膜早破并发胎盘早剥的发生率为2 77% ,而非胎膜早破者为0 5 2 % ,两者相比差异有显著性(P <0 0 1)。间断腰痛、血性羊水、胎心异常为常见的临床表现。胎膜早破并发胎盘早剥时围产儿的死亡率为12 5‰,无孕产妇死亡。结论　胎膜早破是胎盘早剥的诱因之一,重视临床表现,并结合B超和胎心监护有助于早期诊断,以降低母儿并发症。     

基于Internet的遗传疾病登记、随访系统的设计与实现

本系统通过以Internet网为平台,将传统的医院/患者(咨询者)的遗传随访模式转为医院/Internet网/患者(咨询者)的新医疗模式,该系统会大大提高遗传随访的及时性和便利性;同时,会有利于遗传登记的开展,也有利于随访资料的保存。     

Tissue plasminogen activator genetic polymorphisms do not influence tissue plasminogen activator release in patients with coronary heart disease

OBJECTIVES: To determine if polymorphisms of the tissue plasminogen activator (t-PA) gene influence acute endogenous t-PA release in patients with coronary heart disease (CHD). METHODS: Forearm blood flow and plasma t-PA concentrations were measured in response to intra-brachial infusion of substance P and sodium nitroprusside in 96 patients with stable CHD. Genotyping was performed using a Taqman polymerase chain reaction assay specifically designed to detect the polymorphisms of interest: (i) Alu-repeat insertion/deletion sequence; (ii) C-->T substitution in an upstream enhancer region (-7351 C/T); (iii) T-->C in exon 6 (20 099 T/C); and (iv) T-->A (27 445 T/A) in intron 10. RESULTS: Substance P and sodium nitroprusside caused dose-dependent increases in forearm blood flow in all patients (P < 0.001 for all) that were independent of the four genetic polymorphisms. Similarly, there were no differences in basal plasma t-PA antigen concentrations or net t-PA release between genotypes. Compared to non-smokers, smokers exhibited impaired substance P-induced vasodilatation (P < 0.001) and t-PA release (P = 0.05). CONCLUSIONS: Despite confirming our previous findings in cigarette smokers, we have found no effect of polymorphisms of the t-PA gene on two complementary aspects of endothelial function. We conclude that genetic variation of the t-PA locus is unlikely to have a major influence on acute t-PA release in subjects with established CHD.     

The electro-oculogram in uveal melanoma

The electro-oculogram in 52 patients with a suspected malignant melanoma of the choroid or ciliary body was plotted in a diagram constructed for the differential diagnosis of malignant melanoma, metastasis, naevus and retinal detachment. Thirty-one patients were diagnosed as suffering from malignant melanoma on clinical grounds (19 histologically confirmed). Twenty-six were classified correctly as a melanoma using our EOG probability score. Rupture of Bruch's membrane and tumor localization were of no influence on the EOG classification. Accompanying retinal detachment lowered the Lp/Dt-ratio significantly without affecting the Dt, as was also the case in tumors with a prominence equal to or greater than 6mm when compared with smaller tumors. However melanomas were still classified correctly in the majority of the patients by means of EOG. We conclude that an acceptable differentiation can be made between melanomas, retinal detachments and naevi. Melanomas cannot be differentiated from choroidal metastases.     

Genetics: Genetic analysis prior to selective fetal reduction in multiple pregnancy: technical aspects and clinical outcome

Multiple pregnancies resulting from ovarian stimulation areat a higher risk of carrying at least one fetus affected byMendelian or chromosomal anomalies, the incidence of which isdirectly related to the order of multiples. Genetic analysisbefore fetal reduction was offered to both high-and low-riskpregnant women carrying two or more fetuses after ovulationinduction. Chorionic villus sampling (CVS) and fetal reductionwere achieved by transabdominal needling. The use of short-termculture, the polymerase chain reaction and fresh tissue enzymaticanalyses have made it possible for genetic diagnosis to be availablein a few days. A total of 100 patients had multifetal pregnancyreduction performed by a single operator; all of them completedpregnancy and none was lost at follow-up. The total fetal lossbefore 24 weeks was 7% and no statistically significant relationshipwas found with the final number of fetuses and CVS. Perinatallosses (3.9%) were only present in the series with a final numberof two fetuses. Pregnancy duration and birthweight were significantlyhigher in singletons than in twins, but were not related toCVS. The rate of chromosomal disorders was higher (7.2%) inthe study series than in singleton pregnancies not undergoingfetal reduction. Diagnostic error due to incorrect samplingwas reported in 1.5% of cases. These data support fetal reductionas a valuable strategy to improve the outcome of multiple pregnancy.The outcome of pregnancies reduced to singletons was significantlybetter than of those reduced to twins, and was not related toCVS. Therefore, prenatal genetic diagnosis should become anintegral part of counselling on multiple pregnancy, and is stronglyrecommended when reduction to singleton pregnancy is requested.     

血清LSA测定在恶性肿瘤临床诊断中的初步应用

本文根据Svennerholm和蒋谷人等的方法略加改良,测定了蚌埠地区113例正常人,71例恶性肿瘤患者和82例非肿瘤疾病患者血清脂质结合唾液酸(LSA)的含量。正常值为12.4mg/dl(SD=±3.6mg/dl),71例不同肿瘤患者的平均值为28.2mg/dl(SD=±9.7mg/dl),阳性率为88.7％,82例非肿瘤疾病患者的平均值为16.82mg/dl(SD=±5.4mg/dl),假阳性率为17％。方法的灵敏度,重复性(平均CV=3.6％)和回收率(平均回收率=101.4％)测定结果是满意的。本研究的初步结果表明,血清LSA测定对肺癌、白血病、胃癌和食管癌具有一定的临床诊断价值。     

原发性小肠肿瘤41例分析

本文报道我院1981年8月～1986年10月间收治的41例原发性小肠肿瘤,所有病例均经手术切除并经病理检查证实。本组男性24例,女性17例;年龄最小9个月,最大68岁。其中良性肿瘤5例,恶性肿瘤36例。肿瘤位于十二指肠者7例,空肠10例,回肠24例。 原发性小肠肿瘤的临床表现无一定规律,早期多无明显症状,且目前尚缺乏简便可靠的诊断措施,往往导致诊断延误。本文就本病的发生率,临床表现与诊断,误诊原因及辅助诊断等进行了讨论。     

Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types

My experience with more than 80 cases of the late infantile and juvenile forms of the neuronal ceroid-lipofuscinoses over the last 5 years has led to the following realizations. The 2 variants are neurologically distinct entities and probably are the result of different genetic defects. Treatment includes supportive measures and anticonvulsant medication. Therapy for behavioral and psychiatric disturbances in the juvenile type proves to be particularly challenging as neuroleptic medications tend to worsen parkinsonian like symptoms. Neuropathologic and neuro radiologic explanation of clinical symptomatology correlates best with neuronal loss and not neuronal storage. There is a paucity of neuropathologic documentation of these 2 types; additional reports are encouraged.