Objective: To determine levels of trace elements [copper (Cu), zinc (Zn), selenium (Se), and cobalt (Co)] and heavy metals [arsenic (As), mercury (Hg), lead (Pb), and cadmium (Cd)] in the plasma of mothers and infants and investigate the relationship between those levels and neural tube defects (NTD).Methods: A total of 100 neonates diagnosed with NTD and placed in the Neonatal Intensive Care Unit of Yuzuncu Yil University, Turkey between May 2013 and December 2016 comprised the study group. The control group consisted of 70 healthy neonates not diagnosed with NTD or any other congenital anomalies. For both the groups, mother and infant plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared. Plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared between two groups of mothers and infants.Findings: Mother and infant plasma levels of trace elements Zn and Se were determined to be significantly lower in the study group compared with the control group, while Cu levels were significant elevated in the study group (all p values .05). Plasma levels of heavy metals As, Pb, and Cd were found to be significantly higher in the NTD control group (p?.05 for all). There was no association between maternal infection, maternal smoking status, history of miscarriage, or history of NTD with the development of NTD (p?>?.05). Differences in maternal age, birth weight, length of gestation, and infant gender for the two groups were also determined not to be statistically significant.Results: High plasma levels of heavy metals As, Pb, and Cd and trace element Cu were identified as risk factors for the development of NTD. At the same time, low plasma levels of trace elements Zn and Se were also found to be risk factors for NTD. However, no association between Hg and Co plasma levels and increased risk for the development of NTD was observed. This study, while being the most comprehensive case study to date investigating the relationship between heavy metals and trace element levels and increased risk of NTD, nonetheless highlights the need for further research in order to make definite statements regarding this relationship. 相似文献
Introduction: Our objective was to evaluate the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect (VSD).
Material and methods: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients’ medical records.
Results: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant unrelated to the VSD. Clinical follow-up was performed on 26 children after birth. The first postnatal echocardiography did not detect a VSD in 13 (50%) of the followed-up children. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life.
Discussion: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical outcome. 相似文献
Objective: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs).
Methods: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down’s syndrome in Northern Finland. Data for 71 severe CHD cases and 762 controls were obtained from the hospital records and from the National Medical Birth Register, which records the birth of all liveborn and stillborn infants, and from the National Register of Congenital Malformations that receives information about all the CHD cases diagnosed in Finland.
Results: Both PAPP-A and fβ-hCG multiple of median (MoM) values were decreased in all severe CHDs: 0.71 and 0.69 in ventricular septal defects (VSDs), 0.58 and 0.88 in tetralogy of Fallot cases (TOFs), 0.82 and 0.89 in hypoplastic left heart syndromes (HLHSs), and 0.88 and 0.96 in multiple defects, respectively. NT was increased in all study groups except of VSD group. ROC AUC was 0.72 for VSD when combining prior risk with PAPP-A and fβ-hCG. Adding NT did not improve the detection rate. With normal NT but decreased (<0.5 MoM) PAPP-A and fβ-hCG odds ratios for VSD and HLHS were 19.5 and 25.6, respectively.
Conclusions: Maternal serum biochemistry improves the detection of CHDs compared to NT measurement only. In cases with normal NT measurement but low concentrations of both PAPP-A and fβ-hCG, an alert for possible CHD, especially VSD, could be given with thorough examination of fetal heart in later ultrasound scans. 相似文献
目的:观察血糖水平及血糖漂移对2型糖尿病(type 2 diabetes mellitus,T2DM)合并急性脑梗死(acute cerebral infarction,ACI)患者神经功能缺损的影响。方法:选取2014年3月至2015年6月在我院治疗的ACI患者作为观察对象,根据其是否合并2型糖尿病史,将其分为2组:合并2型糖尿病组(DMCI组,42例)和不合并2型糖尿病组(NDMCI组,45例)。比较两组患者平均血糖水平(mean blood glucose,MBG)、血糖水平标准差(standard deviation of blood glucose,SDBG)、血糖波动频数(number of effective glucose excursions,NEGE)、最大血糖波动幅度(largest amplitude of glycemic excursions,LAGE)以及平均血糖波动幅度(mean amplitude of glycemic excursions,MAGE)的差异;观察两组患者神经功能缺损评分的差异,分析血糖水平及血糖漂移与神经功能缺损的相关性。结果:DMCI组患者神经功能缺损评分(National Institutes of Health Stroke Scale,NIHSS)明显高于NDMCI组,差异具有统计学意义(P<0.05);DMCI组患者MBG、SDBG、NEGE、LAGE和MAGE水平均明显高于NDMCI组,差异具有统计学意义(P<0.05);NIHSS评分与MBG、SDBG、NEGE、LAGE和MAGE水平均明显正相关(r=0.356、0.412、0.389、0.435和0.397,P<0.05)。结论:血糖及血糖漂移的高水平可加重T2DM合并ACI患者的神经功能缺损程度。 相似文献