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.     

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.     

Auditory neural myelination is associated with early childhood language development in premature infants

Background

Auditory neural myelination (ANM) as evaluated by auditory brainstem evoked response (ABR) during the neonatal period has been used as a surrogate outcome for long-term neurodevelopment. The validity of ANM as a surrogate outcome for long-term neurodevelopment has not been well studied.

Aim

Evaluate the association of ABR I–V interpeak latency (IPL), an index of ANM, at 35 week postmenstrual age (PMA) with language outcome at 3 years of age.

Design

Prospective study.

Subjects

24–33 week gestational age (GA) infants were eligible if they did not meet exclusion criteria: craniofacial malformation, chromosomal disorders, deafness, auditory dys-synchrony, TORCH infection, or non-English speaking parents. Infants with malignancy, head injury, encephalopathy, meningitis, blindness, or who died or relocated were also excluded.

Outcome measures

ABRs were performed at 35 week PMA using 80 dB nHL and I–V IPL (ms) measured. Auditory Comprehension (AC) and Expressive Communication (EC) were evaluated by a speech-language pathologist at 3 years of age using Preschool Language Scale.

Results

Eighty infants were studied. The mean GA and birth weight of infants were 29.2 weeks and 1336 g, respectively. There was association of worse ear I–V IPL and better ear I–V IPL with AC (Coefficient − 5.4, 95% CI: − 9.8 to − 0.9 and Coefficient − 5.5, 95% CI: − 10  to−0.9, respectively) and EC (Coefficient − 5.6, 95% CI: − 9.5  to−1.8 and Coefficient − 6.7, 95% CI: − 10.6  to−2.7, respectively) after controlling for confounders.

Conclusion

The neonatal I–V IPL is a predictor of language development at 3 years of age in preterms.     

孕妇TORCH核酸检测及意义

为了探讨ＴＯＲＣＨ在孕妇中的感染情况及与不良孕史的关系，采用聚合酶链反应检测了８９例有不良孕史及２０例无不良孕史的孕妇白细胞的ＴＯＲＣＨ核酸，结果发现两组ＴＯＲＣＨ核酸的检出率，病例组为３０．３４％，对照组为５％，经统计学处理有显著性差异，这从分子生物学角度揭示了不良妊娠的原因，为了优生优育有必要进行了ＴＯＲＣＨ核酸的检测。     

6027例孕产妇及新生儿TORCH检测结果分析

目的分析6 027例孕产妇及新生儿TORCH病原体感染情况。方法采用酶联免疫分析法对6 027例孕产妇及新生儿人群进行TORCH-IgM和TORCH-IgG检测。结果受检人群中单纯疱疹病毒(HSV)Ⅰ、HSVⅡ、风疹病毒(RV)、弓形虫(TOXO)、巨细胞病毒(CMV)IgM阳性率分别为0.02%、0.02%、0.12%、0.12%和0.20%;受检人群中HSVⅠ、HSVⅡ、RV、TOXO、CMV IgG阳性率分别为63.32%、13.31%、52.83%、12.68%和58.57%。新生儿CMV-IgM阳性率高于孕产妇,差异有统计学意义(P0.05),共检出10例新生儿CMV急性感染患者。结论孕产妇和新生儿TORCH筛查有助于围产期感染性疾病的检出。     

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。     

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.     

中、晚期妊娠TORCH感染前瞻性研究

为探讨中、晚期妊娠患者 TORCH感染情况及其对妊娠结局的影响 ,用聚合酶链反应 (PCR)技术对2 2 5例中、晚期孕妇进行 TOX,CT,UU,RUV,CMV,HSV- 检测。随访 78例病原体阳性孕妇 (阳性组 )和 92例病原体阴性者 (阴性组 ) ,比较其妊娠结局。2 2 5例中、晚期孕妇上述病原体总感染率为 36 % (81/ 2 2 5 )。孕妇被这些病原体感染可导致宫内感染。阳性组胎儿宫内窘迫、胎膜早破、新生儿重度窒息发病率显著高于阴性组(P<0 .0 5 )。其中混合病原体感染组胎儿宫内窘迫、胎膜早破、新生儿重度窒息发病率显著高于单一病原体感染组 (P<0 .0 5 )。认为孕期 TORCH感染对母儿均可产生不良影响     

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.     

广西地区免费孕前优生健康检查21万对象TORCH筛查结果分析

目的分析符合生育政策计划怀孕妇女TORCH筛查结果,了解待孕妇女TORCH感染情况。方法对广西66个国家免费孕前优生健康检查项目县（市、区）计划怀孕妇女的TORCH筛查结果进行分析,比较城镇对象与农村对象的TORCH感染发生情况,了解县、乡两级服务机构TORCH筛查结果的差异。结果RV—IgG筛查阳性率48．31％,CMV—IgM筛查阳性率0．45％,CMV—IgG筛查阳性率44．02％,TOX—IgM筛查阳性率0．18％,TOX—IgG筛查阳性率2．27％;城镇对象RV—IgG、CMV—IgM、CMV—IgG阳性率高于农村对象（P〈0．01）;TOX—IgM阳性率与农村对象相近（P〉0．05）;TOX—IgG阳性率低于农村对象（P〈0．01）。结论了解计划怀孕妇女TORCH感染情况,指导其选择合适的怀孕时间,有利于减少TORCH感染所致的出生缺陷。