De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

BackgroundThe collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations.Case reportWe report a 17-year-old boy, who presented with recurrent intracranial hemorrhages in the periventricular white matter. He had been followed-up as a child with cerebral palsy bearing intracranial calcifications, developmental delay and epilepsy. Screening tests in infancy provided negative results for intrauterine infections. Severe motor and cognitive deficits persisted after admission. Carbazochrome was introduced on day 19 of admission, which appeared to prevent extension and reactivation of cerebral hemorrhages for over 6 months after discharge.ResultsTargeted sequencing of NOTCH3 and TREX1 excluded causal mutations in these genes. The whole-exome sequencing revealed that he carried a de novo mutation in COL4A1 (p.Gly696Ser). An overview of the literature for 345 cases with COL4A1 mutations supported evidence that p.Gly696Ser is associated with the unique phenotype of late-onset hemorrhage among patients with COL4A1-associated cerebral angiopathy.ConclusionsThis case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.     

Parenchymal calcification is associated with the neurological prognosis in patients with congenital rubella syndrome

Congenital rubella syndrome (CRS) results from maternal rubella virus infection in early pregnancy. Abnormal neuroimaging findings have been analyzed in a small number of CRS patients in the past; however, their clinical significance has been poorly addressed. Therefore, we have investigated the neuroimaging findings of 31 patients with CRS from previous studies. The most common finding was parenchymal calcification, which was observed in 18 of 31 patients (58.1%). A multivariable logistic regression model showed that it was associated with psychomotor or mental retardation (p = 0.018), suggesting that parenchymal calcification in CRS could be a prognostic factor.     

Congenital endophthalmitis following maternal shellfish ingestion

Purpose: To highlight an unusual organism causing a unilateral endophthalmitis by transplacental spread.
Method: We report a case of Plesiomonas shigelloides endophthalmitis, presenting in a newborn, with co-existing septicaemia and meningitis. There was a significant maternal history of diarrhoea associated with the ingestion of oysters 2 weeks prior to delivery.
Result: The endophthalmitis was treated with parenteral antibiotics and topical mydriatics with complete resolution, although subsequent assessment of the affected eye suggests a poor visual outcome.
Conclusion: Endophthalmitis in the newborn is an unusual clinical finding and usually presents with other manifestations of bacteraemia. Plesiomonas shigelloides is fortunately an infrequent cause of neonatal infection, but is associated with a high degree of morbidity and mortality. We postulate that this neonate acquired P. shigelloides via the transplacental route, and suggest that this organism be included in the list of 'other' causes of transplacental infection that has been abbreviated to 'O' in the acronym TORCH.     

1416例围产期妇女TORCH感染血清学调查

TORCH是在围产期引起宫内感染的一组常见病毒,为了解围产期妇女 TORCH感染情况,本文将在山西省妇幼保健院产科门诊1416 例围产期妇女用ELISA法检测了弓形虫(TOX),风疹病毒(RV),巨细胞病毒(CMV),单纯疱疹病毒(HSV)的 IgM,结果如下:TOX0.21％、RV0.28％、CMV0.98％、HSV4.8％.总阳性率为6.2％。     

妊娠与TORCH感染

目的探讨不良妊娠与TORCH感染间的关系及人工流产次数与TORCH感染间的关系.方法运用ELISA法,对有不良妊娠分娩史的实验组孕妇及无上述经历的对照组孕妇行TORCH特异性IgM抗体检测;同时统计对照组孕妇人工流产次数与TORCH-IgM抗体阳性率之间的关系.结果(1)实验组孕妇TORCH-IgM阳性率均显著高于对照组孕妇(P<0.05).(2)妇女人工流产次数与TOX,CMV,HSVⅠ及RUV IgM阳性率显著相关(P<0.05);与HSVⅡIgM阳性率无显著相关性(P>0.05).结论(1)TORCH感染是导致妇女不良妊娠结局的重要原因之一;(2)妇女人工流产是TORCH感染的一个危险因素.     

TORCH感染检测技术在异常妊娠中的临床应用

目的研究肇庆市端州区孕妇TORCH感染与异常妊娠的相关性。方法采用抗体捕获ELISA法对产前检查及近期自然流产诊治的妇女共778例,进行TORCH-IgM抗体检测。结果480例无异常妊娠史者阳性病例54例,IgM总阳性率为11.24%;285例有异常妊娠史者阳性病例126例,IgM总阳性率为44.21%(P<0.05);13例近期自然流产者阳性病例9例,IgM总阳性率为69.22%(P<0.05)。结论在孕早期自觉进行TORCH感染检测,是做好优生优育工作的首要环节。     

婴儿肝炎与病毒感染种类的相关性

目的探讨引起婴儿肝炎病毒种类及其对肝脏的损害程度,达到预防及治疗婴儿肝炎目的。方法使用ELISA法检测51例住院肝炎婴儿血清巨细胞病毒(CMV)、弓形虫(TOX)、风疹病毒(RV)和单纯疱疹病毒(HSV)抗体IgM,并对TORCH-IgM阳性患儿母亲进行TORCH-IgM筛查。结果51例住院婴儿肝炎中TORCH-IgM阳性23例(45%)。其中CMV-IgM阳性13例(25.5%),HSV-IgM阳性5例(9.8%),RV-IgM阳性4例(7.84%),TOX-IgM阳性1例(1.96%)。母婴配对16例TORCH感染。病原体对肝功能均有损害,其中ALT>200 U/L,CMV肝炎5例,HSV肝炎、RV肝炎各1例。婴儿肝炎中血TBIL>220.6μmol/L者,CMV肝炎8例,HSV肝炎、RV肝炎各2例,TOX肝炎1例。结论住院婴儿肝炎中TORCH感染情况较多见,其中以CMV感染为多,RV、HSV感染次之,TOX肝炎发病率最低。CMV感染对肝脏损害较其他病原体严重,日龄小于7 d新生儿肝炎常有其他多脏器功能损害。     

Mechanisms and possible controls of the in utero Zika virus infection: Where is the Holy Grail?

Zika virus infection (ZVI) is a great concern for human health because it frequently causes fetal anomalies. Little is known about pathophysiology of ZVI because it has been regarded as a mild, no life‐threatening infection. However, the latest endemic in South and Central America took attention of perinatologists, microbiologists, and pathologists. Both in vivo and in vitro studies suggest neurotropic nature of Zika virus but do not clarify viral kinetics during vertical transmissions. In this review, we focus on the clinical and microbiological natures ZVI for pregnant women especially how placental barriers are broken down.     

普洱市小儿TORCH感染流行病学调查

目的对云南省普洱市小儿TORCH感染情况进行流行病学调查,为小儿TORCH感染的防治提供参考。方法选取2014年1~12月于该院就诊的1 194例患儿,并分为5个年龄组。采用酶联免疫吸附试验(ELISA)检测患儿血清中TORCH特异性免疫球蛋白M(IgM)、免疫球蛋白G(IgG)抗体,分析比较TORCH特异性抗体阳性率和TORCH感染率。结果患儿TORCH特异性抗体IgM阳性率明显低于IgG,IgM阳性率为0.00%~3.10%,IgG阳性率为10.13%~82.24%,TORCH总感染率为96.98%;各年龄组单项TORCH感染率及TORCH总感染率比较,差异均无统计学意义(P0.05);5个年龄组间各单项感染率分布比较,差异有统计学意义(P0.05);不同季节TORCH感染率及各单项感染率分布比较,差异均无统计学意义(P0.05)。结论该地区小儿TORCH感染以CMV为主,其次为RV和HSV,TOX感染少见;TORCH感染率无明显季节性差异,且各年龄小儿TORCH感染率无明显差异。     

湘潭地区孕妇TORCH检测分析

目的 统计分析湘潭地区近3年孕妇TORCH感染情况,为有效预防本地区TORCH感染、降低先天缺陷儿出生率提供科学依据.方法 采用酶联免疫吸附试验（ELISA）检测湘潭地区2009年至201 1年间9097例孕妇TORCH相关IgM和IgG的抗体水平,按年份分组比较各组间孕妇TORCH感染差异.结果 TOX-IgM、RV-IgM和CMV-IgM阳性率呈逐年下降趋势,HSVⅡ-IgM阳性率呈逐年上升趋势.其中HSV-IgM 2011年与2009年比较差异有统计学意义（P＜0.05）,其余IgM各组间比较差异无统计学意义（P＞0.05）;TOX-IgG阳性率呈逐年下降趋势,RV-IgG和HSVⅡ-IgG阳性率呈逐年上升趋势,CMV-IgG阳性率最高.除TOX-IgG 2010年与2009年比较差异无统计学意义（P＞0.05）外,其余IgG各组间比较差异均有统计学意义（P＜0.01）.结论 孕期妇女应进行常规TORCH检测,一方面及早发现宫内感染,干预不良妊娠,另一方面有针对性的预防TORCH感染.