29例云南不明原因聚集性猝死的尸检病理学研究

目的：分析云南不明原因聚集性猝死的病理特点,为其病因探索和实施干预提供依据。方法：收集云南省进行这类猝死监测以来临床与病理资料较完整的尸检材料29例,占同期死亡病例的10．2％。年龄8至69岁（平均32岁）,男16例、女13例。核查心脏标本,观察了主要脏器的组织病理改变,对其中5例还做了心脏传导系统检查。心肌炎的病理诊断参照Dallas标准和世界心脏联合会的共识,标准克山病的病理诊断依据国家相关卫生行业标准。结果：心脏主要病理改变有：淋巴细胞性心肌炎11例、中性粒细胞性心肌炎3例、致心律失常性右室心肌病4例、左室肥厚合并流出道异常肌束2例、缺血性心脏病2例、过敏性支气管炎和慢性支气管炎合并肺气肿2例、主要脏器未找到明显致死性病理形态改变5例。29例中均未见克山病和扩张型心肌病的病理形态改变。心肌炎均为局灶性,5例心脏传导组织检查见2例有希氏束或左束支起始段急性出血,1例炎症波及房室结。4对家庭聚集性病例的病理改变不同,4例首发猝死中3例为心肌炎、1例慢性感染,续发猝死中3例与急性心肌缺血有关,1例为致心律失常性右室心肌病。多数病例伴肺水肿,少数伴呼吸道和肺部感染。部分出现淤血性或缺血性肝细胞坏死。结论：云南不明原因聚集性猝死的基本病理改变不同,多数为心肌炎症、心脏发育异常和其他致死性心肺疾患,未见克山病的病理学证据,致心律失常性右室心肌病等基础性心脏病应引起重视,猝死的聚集性可能是多种因素的综合表现。     

颈项透明层增厚胎儿的产前诊断和预后研究

目的 探讨颈项透明层增厚与胎儿染色体异常、严重结构畸形和其他严重异常的关系,了解其在评估胎儿预后中的价值。方法 回顾性分析2008年1月~2014年1月于宜宾市第二人民医院78例妊娠早期11~13+6周NT≥2.5 mm且行产前诊断的单胎的临床资料,按NT厚度将其依次分为3组。第1组(NT 2.5~3.5 mm,34例)、第2组(NT 3.6~4.5 mm,28例)及第3组(NT≥4.6 mm,16例)。统计胎儿染色体核型检测结果,随访胎儿超声筛查结构异常情况及妊娠结局。结果 178例NT增厚胎儿中染色体核型异常22例(28.21%)、结构异常23例(29.49%),其中严重心脏畸形14例(17.95%)。随访率96.15%(75/78)。妊娠结局:引产39例,活产36例,无宫内感染、胎膜早破等妊娠结局,活产36例均无出生缺陷。2三组NT增厚胎儿中染色体异常发生率分别为17.65%、28.57%、50.00%,严重心脏畸形发生率分别为0.00%、21.42%和50.00%,结构异常发生率分别为20.59%、28.57%和50.00%。三组胎儿染色体异常、结构异常及心脏畸形的发生率差异均有统计学意义(P<0.05),且发生率均随NT增厚而升高。3主要染色体异常包括21三体综合征(10.26%)、心脏畸形异常(7.69%)和18三体综合征(3.85%)。结论 NT增厚与胎儿染色体非整倍体和先天性心脏病等不良妊娠结局有关。     

冠心病猝死病例心肌细胞免疫组化研究

目的：探讨冠心病猝死病例的死因诊断方法。方法：应用LSAB法对22例疑诊为冠心病猝死病例的心肌细胞进行纤维连接蛋白、肌动蛋白及肌红蛋白的免疫组化研究，并以15例非心性死亡病例作对照。结果：22例冠心病猝死可疑病例心肌中，纤维连接蛋白染色，20例呈阳性，2例阴性；肌动蛋白染色，15例明显缺失，5例轻度缺失，2例无缺失；肌红蛋白染色，13例明显缺失，6例轻度缺失，3例无缺失。15例非心性死亡阴性对照病例，纤维连接蛋白均呈阴性，肌红蛋白及肌红蛋白均无缺失。结论：心肌细胞免疫组化检测是冠心病猝死病例死因诊断的有效手段。     

Down syndrome: clinical profile from India

BACKGROUND: Our objective was to study demographic features, clinical features, and karyotype analyses of patients with Down syndrome (DS). Our study design was a retrospective analysis, while the study was conducted in the Genetic Clinic of a tertiary-care teaching hospital. METHODS: Retrospective analysis of cases referred to the Genetic Clinic was performed. Case proformas of the patients presenting with phenotypic features of DS were analyzed. The following information was recorded from the proformas: age at presentation; sex; maternal age; craniofacial and other physical features; presence and type of congenital heart disease; gastrointestinal abnormalities, and results of cytogenetic evaluation. Clinical features in neonates with DS were separately analyzed. RESULTS: Analysis included cases of DS presenting over a period of 7.5 years; a total of 524 patients were studied (303 males and 221 females; M:F ratio 1.37:1). Average age at presentation was 19.4 months (range: 1 day-26 years). Average maternal age at birth of the affected child was 26.8 years (range: 16-45 years). Craniofacial features noted in >50% of the cases included mongoloid slant (83.9%), ear abnormalities (66.9%), epicanthic folds (56.9%), and flat facial profile (50.9%). A total of 76.3% cases had hypotonia. Characteristic limb and dermatoglyphic anomalies were seen in less than one half of cases. These included sandle sign (46.2%), unilateral or bilateral simian crease (33.2%), clinodactyly (36.1%), and brachydactyly (11.1%). Ophthalmologic abnormalities included hypertelorism (33.9%), nystagmus (3.2%), Brushfield spots (3.2%), squint (2.7%), and cataracts (1.9%). Congenital heart disease was clinically diagnosed in 96 cases (18.3%). The nature of the cardiac defect was ascertained by color Doppler examination and/or 2D-echocardiography in 58 cases. The most common cardiac anomalies were ventricular septal defect (25.8%), tetralogy of Fallot (15.5%), and atrial septal defect (12.1%). Gastrointestinal anomalies were noted in seven cases and included three cases with imperforate anus, two with Hirschsprung disease, and one each with duodenal atresia and Morgagni hernia. Results of cytogenetic abnormalities were available in 42.2%. Free trisomy (non-dysjunction) was present in 95%, 3.2% had translocation, and 1.8% were mosaics. In neonates, common features noted were mongoloid slant, ear abnormalities, flat facial profile, hypotonia, sandle sign, and clinodactyly+/-brachydactyly. CONCLUSIONS: All characteristic craniofacial and physical features of DS need not be present in every case. Major features noted in the present study were mongoloid slant, ear abnormalities, epicanthic folds, flat facies, and hypotonia. Congenital heart disease was present in 18.3% of cases, with ventricular septal defect being the most common type of defect. Non-dysjunction was the most common cause of the chromosomal anomaly.     

Correction of Corrected Transposition of the Great Arteries Associated with Cardiac Anomalies

ＣｏｒｒｅｃｔｉｏｎｏｆＣｏｒｒｅｃｔｅｄＴｒａｎｓｐｏｓｉｔｉｏｎｏｆｔｈｅＧｒｅａｔＡｒｔｅｒｉｅｓＡｓｓｏｃｉａｔｅｄｗｉｔｈＣａｒｄｉａｃＡｎｏｍａｌｉｅｓＸＩＡＯＳｈｉ－ｌｉａｎｇ（肖诗亮）；ＣＡＩＪｕｎ－ｊｉａｎ（蔡俊坚）；ＬＡＮＨｏｎｇ...     

Sudden death due to single coronary artery

Coronary artery anomalies that entail a risk of sudden death are frequently associated with complex cardiac malformations but may occasionally be solitary. A 31-year-old man became ill in the night and lost consciousness. He was taken to a hospital where he was treated. However, he died on the same day. The death was considered to be suspicious and an autopsy was mandated. On macroscopic examination, the heart weighed 410 g. A single coronary artery that originated from the right aortic sinus was found. The coronary artery ostium was 0.8 cm in diameter and had a hole-like shape. Demonstration of coronary artery pathologies in autopsies is vital for the elucidation of sudden death cases related to these lesions and for the development of new treatment approaches. The aims of this case report are to contribute to a better understanding of the coronary artery anomalies and emphasise their medicolegal importance.     

彩超引导脐静脉取血检测先天性心脏异常胎儿染色体

目的对先天性心脏异常胎儿在彩色多普勒超声（彩超）引导下穿刺取脐血，分析染色体情况。方法经超声心动图检出17例心脏发育异常胎儿，在彩超引导下使用专用穿刺引导探头经腹脐静脉穿刺取血，检查染色体情况，术后观察胎儿官内状态与心率。结果17例取血成功，无明显并发症。染色体检出异常核型3例（17．6％），为18-三体2例，13-三体1例，术前超声检查除复杂先天性心脏病外均合并多个脏器畸形。结论彩超清晰显示脐动、静脉，可缩短脐静脉穿刺时间。心脏发育异常胎儿的染色体异常发生率与合并多脏器畸形有关。     

小鼠垂体中叶素对异丙肾上腺素诱导的小鼠心脏肥大的保护作用研究

目的：利用异丙肾上腺素（ISO）诱导的小鼠心脏肥大模型研究小鼠垂体中叶素（IMD）拮抗心脏肥大的药理学作用和机制。方法建立小剂量 ISO 皮下注射诱导心脏肥大的小鼠模型,研究 IMD 给药后的小鼠血流动力学指标和心质量／体质量比,然后利用心脏组织切片评价心肌细胞横截面积、凋亡和纤维化。采用荧光实时定量 PCR 法检测心脏组织的心钠素（ANP）、脑钠肽（BNP）、内源性 IMD 及其受体系统的 mRNA 表达水平。结果与 ISO 诱导的小鼠心脏肥大模型组相比较,腹腔注射 IMD治疗明显降低 ISO 处理所增加的心质量／体质量比和心肌细胞横截面积、心脏肥大标志物 ANP 及 BNP 的 mRNA 水平,以及心肌细胞凋亡率和心肌组织纤维化率。同时,改善心脏功能,左室压力、等容收缩期左心室内压力上升的最大和下降的最小速率、每搏排血量、心输出量和射血分数明显增加,而左心室舒张末期压力显著降低。此外,ISO 处理明显诱导心脏组织内源性 IMD 及其受体的表达。结论 ISO 诱导心脏组织内源性 IMD 及其受体的表达,外源性给与 IMD 治疗可能通过 ISO 活化的 IMD 受体系统实现其拮抗心脏肥大的药理学保护作用。     

Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review

The phenotype of an unbalanced translocation is characterized by the dosage effects of the affected genes in the translocated chromosome. We present the case of a fetus with a paternally derived unbalanced 46,XY,der(10)t(6;10)(p22;q26.1) translocation, detected following growth retardation and cardiac malformation. In trisomy 6p and 10q26 monosomy, external surface malformations, including characteristic facial abnormalities, and neurological or higher effects have been reported. Developmental delay and hypotonia are reported in ≤ 80% of cases of 10q monosomy. Herein, low birth weight, cephalic abnormalities including microcephaly, low-set ears and a high arched palate, ambiguous genitalia including scrotal hypoplasia and cryptorchidism, and congenital heart defects, including ventricular septal defect and pulmonary atresia, were observed. Neurological impact was not evaluated due to neonatal death. The mortality rate and frequency of low birth weight in such translocations has been seldom reported. In this case, severe cardiac malformation and low birth weight may have caused early neonatal death. Whilst Trisomy 6 is associated with low birth weight and perinatal death, few studies have reported these outcomes in 10q26 deletion syndrome. Our findings therefore contribute to the evidence base regarding unbalanced translocations and may improve the clinical management of such patients.     

Sudden death related to anomalous origin of coronary artery and coexisting fenestrated membrane of the sinus coronarius

Coronary artery anomalies that may be an isolated defect or part of complex congenital malformations of the heart are also often associated with a high risk of sudden death. A 19-year-old woman lost consciousness in the night. She was taken to hospital where she was treated. However, she died on the same day. The prosecutor considered the death suspicious, and the victim was taken to the morgue department for further examination and autopsy. On macroscopical examination, both coronary arteries originated from the left aortic sinus with the left one being dominant. The orifice of the sinus coronarius in the right atria was covered with a fenestrated membrane. Demonstration of coronary artery pathologies and associated anomalies in autopsies is vital for the elucidation of sudden death cases related to these lesions and for the development of new treatment approaches. The purposes of this case report are to characterise and identify markers of the coronary artery anomalies and to highlight their medicolegal importance in sudden death cases.     

产前超声在59例胎儿心脏畸形诊断中的应用分析

目的探讨产前超声在诊断胎儿心脏畸形中的应用价值。方法回顾性分析该院自2009年开展胎儿系统筛查以来查出的59例胎儿心脏先天性异常的声像图表现孕晚期并总结分析4例漏诊的原因。结果 44例胎儿心脏先天性异常于20～28周筛查时查出,占胎儿心脏异常总数的74.6%;孕晚期查出15例,占25.4%,其中2例室间隔缺损孕晚期复查已愈合,漏诊4例于出生后经超声心动图确诊。结论产前超声可提高胎儿心脏异常的检出率,对产前诊断胎儿心脏畸形有重要意义。     

Leopard syndrome

The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness (sensorineural). Hypertrophic cardiomyopathy, though not included in the mnemonic, is often associated. Although the Leopard syndrome is rare, it is important to recognise it since it can be associated with serious cardiac disease. It is advisable to follow up patients with Leopard syndrome for new onset of cardiac abnormalities and to monitor the progression of existing cardiac disease. We present a case report and review of the literature of this syndrome.     

二维彩色多普勒超声心动图识别右心室异常肌束

我院自1987年9月至1989年2月,用二维彩色多普勒超声心动图(2D-DCFM)连续探测小儿先天性心脏病665例,发现右心室异常肌束17例,其中11例已经右心导管检查、选择性右心室造影和(或)手术,其准确率为100％。除3例右心室异常肌束畸形(其中1例伴心肌病)单独存在外,其余14例均合并其他心脏畸形,本法的准确率亦极高。既往本病确诊有赖右心导管检查和选择性右心室造影,本组9例已施行手术治疗的病例中,5例经2D-DCFM检查后得以免做右心导管检查和选择性右心室造影,而直接进行手术。本法为无创伤性检查,准确、方便,已成为心脏外科手术前后诊断和随访特别重要的检查手段。     

Peroneal muscular atrophy associated with cardiac conducting tissue disease: further observations

Two further cases of peroneal muscular atrophy associated with cardiac conduction abnormalities are described.     

妊娠合并心脏病79例临床预后分析

目的探讨妊娠合并心脏病对母婴预后影响的因素。方法对79例妊娠合并心脏病患者（包括双胎妊娠3例）的临床资料进行回顾性分析。结果妊娠合并心脏病患者中以心律失常、先天性心脏病和风湿性心瓣膜病为主,分娩方式与妊娠结局：剖宫产占78％;围生儿82例中低体质量儿23例,新生儿苍白窒息1例,围生儿死亡2例,孕产妇死亡1例。结论妊娠合并心脏病患者的母婴预后与心功能级别和抗心力衰竭处理密切相关。剖宫产为比较安全的分娩方式。     

Ebstein心脏畸形的外科治疗

目的 :总结 Ebstein心脏畸形病人的手术适应证和手术疗效。方法 :1 0例病人均在体外循环下行房化右室折叠、悬吊 ,然后行 Devega三尖瓣环成形术 ;同时矫治心内并存其他畸形。结果 :除 1例术后早期因心律紊乱死亡外 ,余恢复良好。随访 1 a～7a,9例长期存活者 ,均能从事一般体力劳动。结论 :本病自然预后极差 ,且常并存心内其他畸形 ,所以本病一经诊断 ,应及早手术治疗 ,其近远期疗效比较满意     

Fetal and neonatal congenital complete heart block

Fifteen cases of congenital complete heart block were diagnosed in utero or at birth, over a nine-year period. Six cases were confirmed by fetal echocardiography between 22 and 36 weeks of gestation. Two cases were treated in utero for cardiac failure, and serial ultrasonography was used to monitor the progress. Structural heart disease was present in seven (47%) infants; in four of these infants the defect was a corrected transposition of the great arteries. Ventricular pacing was required in seven patients--four infants with anatomically-normal hearts and three infants with associated structural heart disease. Eight children did not require permanent pacing, and remained well after a mean follow-up period of 23 months (range, one to 72 months). The mortality was highest in those patients with structural heart disease, three of whom died as neonates. Only one baby died with an anatomically-normal heart. Antinuclear antibodies were present in the mothers of seven of the eight infants who were born with a structurally-normal heart. Four mothers either had pre-existing connective-tissue disease or had developed manifestations of such disease subsequent to pregnancy. Of this group, all the women were antibody-seropositive to the nuclear antigen SS-A during pregnancy. Mothers of three infants had antinuclear antibodies in low titres, were seronegative for antibody to SS-A and remained free of the manifestations of connective-tissue disease. Six of the seven most-recent cases have been diagnosed in utero, which confirms a trend towards the more-frequent prenatal diagnosis of congenital heart disease as a result of the increased use of fetal monitoring and ultrasonography.     

Alcohol and the cardiovascular system

Ethanol has long been recognized as a toxic agent that has acute and chronic effects on cerebral and hepatic function. Over the past two decades important influences on the cardiovascular system have been either rediscovered or observed for the first time. The combined use of tobacco cigarettes and alcohol appears to increase the risk of many of these clinical abnormalities. While many individuals addicted to ethanol have subclinical abnormalities of the heart, somewhat less than a majority develop symptomatic cardiac problems. These include heart failure and arrhythmias. In addition to supraventricular arrhythmias that often normalize spontaneously, there is an increased incidence of sudden death that peaks at about 50 years of age in the alcoholic population. A significant degree of blood pressure elevation occurs in individuals who abuse alcohol. This appears to be transient and is normalized in most individuals during abstinence. The increased incidence of hemorrhagic and nonhemorrhagic stroke in middle age also appears to decline when alcohol abuse is interrupted. A preventive effect of mild to moderate drinking on coronary artery disease is, at present, equivocal, largely due to the question of appropriate controls.     

成人心脏传导系统中肾上腺素能神经纤维分布

目的：观察成人心脏传导系统中肾上腺素能神经纤维的分布。方法：采用荧光显微镜下观察10例成人心脏传导系统中的肾上腺素能神经纤维。结果：在心脏传导系统中可见大量肾上腺素能神经纤维,以窦房结最多,房室结次之,而房室束极少。结论：人心脏传导系统中含有丰富的肾上腺素能神经纤维,显不均匀分布,对心脏的生理功能具有重要作用。     

Cardiovascular complications of chronic renal failure - an updated review

Chronic kidney disease (CKD) is a worldwide public health problem. Cardiovascular disease (CVD) is frequently associated with CKD, which is important because individuals with CKD are more likely to die from CVD than to develop kidney failure. CVD in CKD is treatable and potentially preventable and CKD appears to be a risk factor for CVD. In order of incidence and frequency systemic hypertension, left ventricular failure, congestive cardiac failure, ischemic heart disease, anaemic heart failure, rhythm disturbances, pericarditis with or without effusion, cardiac tamponade, uraemic cardiomyopathy are various cardiovascular complications encountered in patients with chronic renal failure. A patient may present with one or more complications of cardiovascular system. The survival rate and prognosis to a great extent depends on proper management of these complications. Use of regular dialysis and renal transplant has changed the death pattern in developed countries but it is still a major problem in developing country. The aim of this article is early detection of CKD and proper management of it thereby preventing the major cardiovascular complications.