产前超声在中孕期胎儿严重先天性心脏病筛查中的应用

目的:探究产前超声检查在中孕期胎儿严重先天性心脏病(CHD)筛查中的应用。方法:选择2012年1月至2014年1月在我院妇产科进行产前常规超声检查的孕妇12076例,年龄22-41岁,平均(28.6±8.3)岁,孕周20-36周,平均(25.2±6.7)周。将符合纳入排除标准的孕妇8953例作为研究对象,其中初产妇6023例,经产妇2930例。对纳入研究的孕妇行彩色多普勒超声检查,并对妊娠结局进行追踪,将确诊情况与筛查结果进行比较分析。结果:产前彩色多普勒超声诊断出胎儿CHD38例,经尸检或新生儿彩色多普勒超声检查均确诊为CHD,对胎儿期未筛查出CHD的孕妇进行新生儿彩色多普勒超声检查,确诊4例,产前超声检查胎儿CHD检出率为90.48%(38/42),检出准确率100%(38/38)。结论:彩色多普勒超声筛查孕中期胎儿CHD,灵敏度和特异性高,安全无创伤,操作简便快速,值得推广为产前筛查的首选方法。     

200 例新生儿心脏彩超筛查先心病结果分析

目的:了解新生儿先天性心脏病(简称先心病)的发病情况,获得基本资料,为制定和采取干预措施提供决策依据。方法:将新生儿心脏彩超列入常规检查项目,选择西京医院产科2011年6月13日至7月23日出生的200名新生儿进行心脏彩超检查,筛查率为100%。结果:正常的为170例,占85%,其中需观察、随访的131例。异常的为30例,发病率占百分之15%,其中复杂先心病3例。30例先心病患儿中,以ASD+PDA类型心脏病最多,占56.67%;其次是ASD,占16.67%;VSD+PDA和VSD+PDA+PFO类型分别占6.67%;检出复杂先心病类型单室+房间隔缺损+肺动脉瓣狭窄、单房单室、部分型心内膜垫缺损+ASD+二尖瓣前瓣裂,分别占3.33%。结论:新生儿先心病的发病率较高,采用心脏彩超等检查项目筛查是非常必要的,需认识导致新生儿先心病的原因,尽早发现先心病患儿,并做好先心病患儿的随访工作,为及时进行干预提供保障。     

黑龙江省非综合性耳聋基因位点的研究

目的:分析黑龙江地区新生儿耳聋易感基因的携带情况。方法:选取2014年6月至2015年3月在我院出生、义诊以及门诊筛查的新生儿1036例,采取EDTA抗凝静脉全血,提取基因组DNA进行PCR,利用直接测序法检测非综合性耳聋常见突变基因GJB2、SLC26A4及线粒体12S rRNA。结果:1036例新生儿中,64例筛查阳性,阳性检出率6.18%。其中GJB2 235del C 26例,35del G 3例,109GA 5例,176-191del16 4例,299-300delAT 9例,SLC26A4IVS7-2 14例,SLC2168 3例,12S rRNA突变2例。其中有家族史的新生儿63例,携带耳聋基因的患儿17例,阳性检出率为27.0%。结论:GJB2 235del C和SLC26A4 IVS7-2为本省的高发致病位点,对新生儿进行耳聋基因筛查,亦或对年轻夫妇进行孕前检查,部分耳聋可早期发现,制定相应的干预措施,可预防或降低耳聋的发生。     

串联质谱技术在新生儿遗传代谢病筛查中的临床应用研究

目的:探讨串联质谱技术筛查新生儿遗传代谢病的发生率及确诊病例情况,为其临床应用提供参考。方法:回顾性分析2013年5月~2016年12月在本院疾病筛查中心采用串联质谱技术进行遗传代谢病筛查的27217例新生儿的临床资料,记录串联质谱技术筛查的可疑阳性患者及确诊情况,剔除确诊患儿后,分别根据新生儿胎龄、出生体重、采血时间进行分组,比较各组新生儿各种氨基酸水平。结果:本研究中27217例新生儿,串联质谱筛查为可疑阳性的占1.69%(459/27217),确诊14例,发生率为0.05%(14/27217);剔除确诊新生儿后,早产组与足月组新生儿体内丙氨酸(ALA)、甲硫氨酸(MET)浓度比较无统计学意义(P0.05),出生体重≤2500 g组与2500 g组新生儿体内MET、鸟氨酸(ORN)、瓜氨酸(CIT)浓度比较差异无统计学意义(P0.05),采血时间3~7 d组与7 d组新生儿体内脯氨酸(PRO)浓度比较差异无统计学意义(P0.05)。除以上几种外,其余各种氨基酸浓度早产组与足月组比较、出生体重≤2500 g组与2500 g组比较、采血时间3~7 d组与7 d组比较,差异均有统计学意义(P0.05)。结论:串联质谱检测可早期发现新生儿遗传代谢病,但应根据新生儿胎龄、出生体重、采血时间确定截断值,以降低假阳性率。     

秦皇岛地区新生儿先天性甲状腺功能低下症的筛查及诊断分析

目的:分析秦皇岛地区新生儿先天性甲状腺功能低下症(congenital hypothyroidism,CH)患儿的筛查和诊断结果,为进一步提高新生儿筛查的管理及提高新生儿生命健康质量提供依据和参考。方法:回顾性分析秦皇岛地区2011年1月至2017年1月共184308例新生儿的CH筛查资料和诊断结果。统计确诊CH患儿的基本情况、体检情况、筛查检验情况、确诊检验情况及治疗随访情况。结果:共筛查184308例新生儿,其中92例为确诊CH患儿,发病率1/2003(0.499‰)。新生儿CH临床非特异性表现复杂多样,多表现为病理性黄疸,占72.8%,经治疗后黄疸消退时间17~48天;其次为前囟大、后囟未闭,占58.7%;少哭、喑哑次之,占51.1%;其他临床表现为消化道症状(腹胀、肠鸣减弱、便秘、脐疝)、特殊面容、粘液水肿等。CH患儿筛查检验促甲状腺激素(Thyroid Stimulating Hormone),TSH重度升高者占52.2%,中度升高者为26.1%,轻度升高者为21.7%。CH患儿绝大部分表现为TSH升高和甲状腺激素(thyroxine,T4)降低。经口服左旋甲状腺素钠片治疗2周后,患儿症状改善,并根据三碘甲状腺氨酸(Triiodothyronine,T3)、T4、TSH检测结果调整剂量,恢复后每三个月复查一次。36~48个月随访,患儿身高、体重基本达到正常参照标准。结论:秦皇岛地区新生儿CH发病率较全国水平(1/3120)稍高,需加强CH患儿非特异性临床表现的健康教育工作,通过新生儿CH筛查做到早发现、早诊断、早治疗,提高新生儿的生命健康。     

胎儿唇裂与唇腭裂产前超声诊断分析

目的:探讨超声诊断胎儿唇裂与唇腭裂的图像特征,以提高胎儿唇裂及唇腭裂的确诊率。方法:选取我院2013年1月~2013年12月的2381例产前超声筛查检查出的17例唇腭裂胎儿,经二维三维超声检查后与出生后颜面部检查结果比较。结果:17例唇腭裂胎儿共检查出16例,漏检1例,检出准确率94.12%,其中1例完全唇裂伴完全腭裂仅检查出唇裂,误检率5.88%。其中未合并其他畸形胎儿16例(94.12%,16/17),完全唇裂伴完全腭裂13例(76.47%,13/17),单纯唇裂2例(11.76%,2/17),单纯腭裂1例(5.88%,1/17);唇腭裂合并其他畸形胎儿1例。结论:产前进行超声检查在胎儿唇裂和唇腭裂诊断中具有显著作用,发现唇裂或唇腭裂后可经多次反复检查确诊,对于部分胎儿可能存在患有唇裂或唇腭裂而漏检情况。     

新生儿与婴幼儿眼部菌群的调查

本文用分离培养法或聚合酶链反应检查了３６４例出生０－５岁的正常或患眼炎的新生儿及婴幼儿眼部菌群的种类分布，来源，药物敏感性及其同眼炎的关系。结果表明新生儿出生２４小时内眼部大多无菌或仅可检出革兰氏阴性细菌检出率为３３．３％，出生２天后可检出多种微生物，检出率达９４．２％，分离培养法检查的２２０例新生儿与婴幼儿中，眼部带菌者１９９例，感染率为９０．５％。     

网络化管理对降低秦皇岛地区出生人口缺陷率的价值分析

目的:探讨网络化管理对降低秦皇岛地区出生人口缺陷率的应用价值。方法:选取2011年-2016年秦皇岛地区214404例新生儿两病(苯丙酮尿症和先天性甲状腺功能低下症)筛查的统计资料,并统计2011年至2016年每年及6年的筛查率和两病的筛查发病率,并与秦皇岛地区前6年两病的发生率进行对比。结果:秦皇岛地区6年内总筛查率为98.0010%,确诊苯丙酮尿症27例,先天性甲状腺功能低下症79例,两病的筛查疾病发病率分别为1/7782和1/2660。与前6年相比,2011至2016年两病的发生率均明显下降(P0.05)。结论:网络化管理通过及时预知并召回可疑患儿,对其采取行预防措施或者一定的治疗手段,降低了秦皇岛地区出生人口缺陷率,同时使新生儿筛查真实、完整、准确,效率较高,较易查询。     

新生儿缺血缺氧性脑病不同严重程度的MRI表现及其诊断价值分析

目的:比较新生儿缺血缺氧性脑病(HIE)不同严重程度的磁共振(MRI)和电子计算机断层扫描(CT)下的表现,分析MRI对新生儿HIE的诊断价值。方法:选择2017年1月至2019年8月我院收治的HIE新生儿76例,其中轻度46例,中度24例,重度6例,所有患儿均接受MRI和CT检查,比较MRI与CT对新生儿HIE的诊断结果、对新生儿HIE严重程度的诊断结果及对患儿颅内病变检出率的结果。结果:以临床表现为金标准,76例患儿经MRI检查确认为新生儿HIE的有72例,准确率为94.74%;经CT检查确认为新生儿HIE的有63例,准确率为82.89%,MRI检查对新生儿HIE的检出率显著高于CT检查(x2=5.365,P=0.021)。MRI检查对轻度、重度HIE诊断的符合率分别为71.74%(33/46)、100.00%(6/6),显著高于CT检查的43.48%(20/46)、50.00%(3/6)(均P0.05);MRI与CT对中度HIE诊断的符合率分别为75.00%(18/24)、66.67%(16/24),二者比较差异无统计学意义(x2=0.403,P=0.525)。MRI检查对脑室内出血、脑室周围出血、蛛网膜下腔出血、基底节损伤、脑水肿的总体检出率为98.68%(75/76),高于CT检查的90.79%(69/76)(x2=4.750,P=0.029)。结论:与CT相比,MRI能够更清晰显示新生儿的脑组织结构,对新生儿HIE诊断和严重程度的准确率优于CT,且对新生儿HIE脑组织病变情况的诊断也较CT更佳,具有较高的诊断价值。     

一例原发性夜盲家系的遗传学研究

原发性夜盲是指仅有先天性夜盲而无眼底改变的一种遗传性眼病。Nettleship将本病分为两种类型:第一类视力及眼底均正常,遗传方式为常染色体显性遗传(AD),又称Nougaret型。第二类除自幼夜盲外,常伴有近视,有时有     

Recent advances in the study of Kaposi's sarcoma-associated herpesvirus replication and pathogenesis

It has now been over twenty years since a novel herpesviral genome was identified in Kaposi's sarcoma biopsies. Since then, the cumulative research effort by molecular biologists, virologists, clinicians, and epidemiologists alike has led to the extensive characterization of this tumor virus, Kaposi's sarcoma-associated herpesvirus(KSHV; also known as human herpesvirus 8(HHV-8)), and its associated diseases. Here we review the current knowledge of KSHV biology and pathogenesis, with a particular emphasis on new and exciting advances in the field of epigenetics. We also discuss the development and practicality of various cell culture and animal model systems to study KSHV replication and pathogenesis.     

A Unique Protease Cleavage Site Predicted in the Spike Protein of the Novel Pneumonia Coronavirus (2019-nCoV) Potentially Related to Viral Transmissibility

正Dear Editor,In December 2019, a novel human coronavirus caused an epidemic of severe pneumonia(Coronavirus Disease 2019,COVID-19) in Wuhan, Hubei, China(Wu et al. 2020; Zhu et al. 2020). So far, this virus has spread to all areas of China and even to other countries. The epidemic has caused 67,102 confirmed infections with 1526 fatal cases     

Curcuminoids as inhibitors of thioredoxin reductase: A receptor based pharmacophore study with distance mapping of the active site

Curcumin is the yellow pigment of turmeric that interacts irreversibly forming an adduct with thioredoxin reductase (TrxR), an enzyme responsible for redox control of cell and defence against oxidative stress. Docking at both the active sites of TrxR was performed to compare the potency of three naturally occurring curcuminoids, namely curcumin, demethoxy curcumin and bis-demethoxy curcumin. Results show that active sites of TrxR occur at the junction of E and F chains. Volume and area of both cavities is predicted. It has been concluded by distance mapping of the most active conformations that Se atom of catalytic residue SeCYS498, is at a distance of 3.56 from C13 of demethoxy curcumin at the E chain active site, whereas C13 carbon atom forms adduct with Se atom of SeCys 498. We report that at least one methoxy group in curcuminoids is necessary for interation with catalytic residues of thioredoxin. Pharmacophore of both active sites of the TrxR receptor for curcumin and demethoxy curcumin molecules has been drawn and proposed for design and synthesis of most probable potent antiproliferative synthetic drugs.     

The structure, reproduction and taxonomy of Vidalia and Osmundaria (Rhodophyta, Rhodomelaceae)

Comprises species occurring mostly in subtidal habitats in tropical, subtropical and warm-temperate areas of the world. An analysis of the type species, V. spiralis (Sonder) Lamouroux ex J. Agardh, a species from Australia, establishes basic characters for distinguishing species in the genus. These characters are (1) branching patterns of thalli, (2) flat blades that may be spiralled on their axis, (3) width of the blade, (4) primary or secondary derivation of sterile and fertile branchlets and (5) position of sterile and fertile branchlets on the thalli. Application of the latter two characters provides an important basic method for separation of species into three major groups. Osmundaria , a genus known only in southern Australia, was studied in relation to Vidalia , and its separation from the Vidalia assemblage is not accepted. Species of Vidalia therefore are transferred to the older genus name, Osmundaria. Two new species, Osmundaria papenfussii and Osmundaria oliveae are described from Natal. Confusion in the usage of the epithet, Vidalia fimbriala Brown ex Turner has been clarified, and Vidalia gregaria Falkenberg, described as an epiphyte on Osmundaria pro/ifera Lamouroux, is revealed to be young branches of the host, Osmundaria prolifera.     

New or rare chromosome counts in Artemisia L. (Asteraceae, Anthemideae) and related genera from Kazakhstan

Fifteen chromosome counts of six Artemisia taxa and one species of each of the genera Brachanthemum, Hippolytia, Kaschgaria, Lepidolopsis and Turaniphytum are reported from Kazakhstan. Three of them are new reports, two are not consistent with previous counts and the remainder are confirmations of very scarce (one to four) earlier records. All the populations studied have the same basic chromosome number, x = 9, with ploidy levels ranging from 2x to 6x. Some correlations between ploidy level, morphological characters and distribution are noted.