Role of prenatal echocardiography in the study of hypertrophic cardiomyopathy in the fetus

The increased incidence of hypertrophic cardiomyopathy in children of diabetic mothers has already been demonstrated, but its prenatal diagnosis has not yet been extensively studied. The purpose of this prospective study was to evaluate the frequency, severity, and echocardiographic features of fetal hypertrophic cardiomyopathy in a population with several indications for prenatal echocardiography. From March 1987 to April 1991, 283 fetuses were submitted to comprehensive prenatal echocardiography, including M-mode measurements, cross-sectional imaging, Doppler studies, and color flow mapping. One hundred seventy-six were pregnancies complicated by previous or gestational diabetes. The diagnosis of disproportionate septal hypertrophy was made in 39 fetuses (mean septal thickness 7.12 +/- 1.6 mm), at a mean gestational age of 32 weeks. Diabetes mellitus was present in 36 of these pregnancies (92.3%). In four cases, nonimmune hydrops was detected. A systolic anterior motion of the mitral valve was present in three fetuses, but only one showed a gradient across the left ventricular outflow tract. Postnatal echocardiographic examination in 27 babies did not show false positivity. In ten cases, spontaneous regression of the septal hypertrophy was shown. There were three neonatal deaths, unrelated to the myocardial disease. We concluded that transient hypertrophic cardiomyopathy is a frequent entity, especially when associated with diabetes during gestation, being a potential cause for nonimmune hydrops. Fetal echocardiography is the method of choice for its prenatal diagnosis and should always be indicated in diabetic mothers.     

Hereditary neuropathy with liability to pressure palsies

Summary Clinical, neurophysiological and pathological investigations were carried out in 11 affected members of 2 families with hereditary neuropathy with liability to pressure palsies (HNPP). The observations were related to findings in 261 cases of 47 families published in the literature. It was concluded that HNPP is a nosological entity characterized by the following diagnostic criteria: (1) an autosomal dominant inheritance; (2) the clinical presentation of a recurrent mononeuropathy simplex or multiplex, frequently related to an inadequate trauma to peripheral nerves; (3) a significant slowing of motor and sensory conduction velocity in clinically affected, but also in clinically unaffected nerves; (4) characteristic morphological findings in sural nerve biopsy featuring tomaculous swellings of myelin sheaths, transnodal myelination and segmental demyelination. The pathogenesis of HNPP is not clear. Hypothetical explanations of the pathogenesis of HNPP are discussed.In memory of Albert Bischoff (1921–1981), Professor of Neurology, University of Berne     

Alport综合征畸变产物耳声发射测试

目的 分析遗传性血尿肾病耳聋综合征(Alport syndrome,As)病人的听功能改变特点,畸变产物耳声发射(DPOAEs)测试的意义。方法 对10例As病人进行了纯音测听、声导抗、DPOAEs和听性脑干反应(ABR)测试。结果 As病人全部DPOAEs反应缺失或高频、中频振幅下降,声导抗测试10例病人鼓室压图均为A型曲线,除2例重度感音性耳聋病人声反射阈与听阈之差<60dB,提示Metz重振试验阳性外,其余病人各波潜伏期和波间期均在正常范围。结论 10例As病人DPOAEs均不正常,声导抗、ABR均能引出,验证了As病人耳部病变定位为耳蜗基底膜,与肾脏基底膜病变为共同靶器官,DPOAEs能反映耳蜗外毛细胞的功能微病理改变,对As的早期诊断、鉴别诊断及对遗传咨询有指导意义。     

遗传性非息肉病性结直肠癌家系分析

目的　探讨遗传性非息肉病性结直肠癌在我国的发病遗传规律以及流行病学特点。方法　自 1999年 1月至 2 0 0 2年 12月 ,对天津市人民医院 (原名天津市滨江医院 )收治的 2 92例结直肠癌患者进行家系调查 ,从中筛选出符合以下标准的遗传性非息肉病性结直肠癌家系 3 8个 ,对家系的肿瘤发生率、肿瘤谱和临床特点等进行了分析和总结。诊断标准使用Amsterdam标准Ⅰ、Amsterdam标准Ⅱ (ICG HNPCC)和日本HNPCC诊断标准。结果　 3 8个遗传性非息肉病性结直肠癌家系中共有 14 5例癌症患者 ,其中男性 76例 ,女性 69例 ,男女比例为 1.1∶1。原发性结直肠癌平均诊断年龄为 ( 5 5 .73± 15 .88)岁 ,在所有 99例结直肠癌中 ,左半结肠癌及直肠癌 2 9例 ,占 2 9.3 % ;右半结肠癌 70例 ,占 70 .7% ,右半结肠癌占有绝对的优势 ;异时性多发性原发结直肠癌患者占大肠癌患者的 13 .1% ( 13 /99) ;HNPCC相关肿瘤共 46例其发生率由高到低前三位是 :子宫内膜癌 9例 ( 19.6% )、乳腺癌 7例 ( 15 .2 % )、肺癌、胃癌各 6例 ( 13 .0 % ) ;在男女性共患癌中 ,除胰腺癌、纵隔癌外 ,男性发生率均高于女性 ;第一代、第二代以及第三代患者的平均诊断年龄有逐渐年轻化的趋势 ,并具有统计学意义。结论　我国遗传性非息肉病性结直肠癌很可能     

遗传性非息肉病性大肠癌(10个家族27例报告)

分析遗传性非息肉病性大肠癌(HNPCC)的临床特点。方法:对10个家族27例HNPCC患者(A组)进行回顾性分析,并设30例一般大肠癌为对照组(B组)进行比较。结果:<50岁患者A组占59.3%(16/27),B组占23.3%(7/30),P<0.05。脾曲以上癌灶A组为40.0%(12/30),B组为16.1%(5/31),P<0.05。大肠多原发癌A组占10.0%(3/30),B组占3.2%(1/31)。大肠外肿瘤A组6例,B组2例。结论:HNPCC具有典型的临床特征,这些特征可以对HNPCC患者进行早期诊断及治疗,以得到较好的预后。     

An infant with Costelio syndrome complicated with fatal hypertrophic obstructive cardiomyopathy

We report a 3-month-old girl with Costelio syndrome complicating fatal hypertrophic obstructive cardio-myopathy. She had typical findings of this syndrome, slight dyspnea and persistent wheezing. Doppler echocardiography revealed asymmetric septal hypertrophy and systolic anterior movement of the anterior mitral leaflet. There was grade 1 mitral regurgitation. Although once her heart failure had been controlled medically, she died suddenly following deterioration of her heart condition. Costelio syndrome can complicate fatal hypertrophic obstructive cardiomyopathy.     

回心草化学成分研究

目的:研究回心草的化学成分。方法:回心草95%乙醇提取物依次用石油醚、醋酸乙酯、正丁醇进行充分萃取,用硅胶柱色谱、葡聚糖凝胶柱色谱反复对醋酸乙酯部位进行成分分离、纯化,通过波谱方法鉴定结构。结果:从回心草中共分离鉴定了8个化合物,分别为胡椒碱(1),咖啡酸甲酯(2),尿嘧啶苷(3),熊果酸(4),3β-羟基-5α,8α-氧桥-6,22-二烯(5),3β-羟基-5α,8α-氧桥-6,9(11),22-三烯(6),β-谷甾醇(7),胡萝卜苷(8)。结论:化合物1-6和8为首次从该植物分离得到。     

经皮室间隔心肌化学消融治疗肥厚型梗阻性心肌病近期疗效观察

目的:评价经皮室间隔心肌化学消融(PTSMA)方法治疗的6例肥厚型梗阻性心肌病(HOCM)近期疗效观察。方法:6例肥厚型梗阻性心肌病患者,男4例,女2例;平均年龄(38.6±12)岁;病程(1~7)年,采用RAO 15°~45°体位投照下,确定靶血管后,向球囊导管中心腔内注入无水酒精,均放置临时起搏器,术中密切观察患者的心电图以及LVOTG的变化,术后所有患者均定期复查心电图及超声心动图,随访观察6个月。结果:术中消融第一间隔支者4例,消融第二间隔支者2例。术中有1例出现Ⅲ度房室传导阻滞,2例出现完全性右束支传导阻滞,均为一过性;随访观察6个月,所有患者均存活,无晕厥及心绞痛复发;经常规心电图及动态心电图观察,均无频发室早、短阵室速及其他恶性心律失常出现,复查超声心动图均提示原先肥厚的室间隔心肌变薄,搏动减弱,LVOTG下降,SAM现象消失,左室射血分数提高。结论:PTSMA治疗肥厚型梗阻性心肌病可使室间隔变薄,压力差降低,左室流出道梗阻减轻,患者术后的症状、体征以及超声心动图表现均较术前有显著改善,无严重并发症出现。这表明PTSMA是一种治疗HOCM的有效方法,其近期疗效可靠。     

建立糖尿病心肌病动物模型方法的实验研究

目的研究建立糖尿病心肌病动物模型的科学、实用的方法。方法应用链脲佐菌素对SD大鼠进行一次性腹腔注射,通过观察大鼠的一般状况、进食量、进水量、尿量、体重的变化,监测血糖、尿糖、心肌酶含量、胰岛素水平、心肌超微结构、心脏大血管内膜情况及心电图情况来评估糖尿病心肌病的发病情况。结果腹腔注射STZ 3周后,模型组大鼠出现病态表现,进食量、饮水量、尿量增加,体重下降。血糖值、尿糖值及肌酸激酶、乳酸脱氢酶值均较对照组大鼠升高。胰岛素水平较对照组明显降低,心肌超微结构符合糖尿病心肌病表现,心脏大血管未见纤维斑块和粥样斑块。结论对SD大鼠进行一次性腹腔注射链脲佐菌素(55mg/kg),大鼠于注射后第3周可出现稳定的糖尿病心肌病状态。这是一种可靠且实用性强的糖尿病心肌病动物模型的制备方法。