Association of drug treatments in pregnant women with the risk of external ear congenital abnormalities in their offspring: a population-based case-control study

The objective of this study was to evaluate the possible association of drug treatments in pregnant women with a higher risk of congenital abnormalities of the external ear, particularly microtia/anotia, in their children. The frequency of drug treatments was compared in the mothers of cases with isolated or multiple (syndromic) ear abnormalities and in the mothers of three different controls: controls matched to cases, all controls (these controls had no defects) and malformed controls in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. There was no significantly higher use of any drug in the mothers of 354 cases with isolated external ear abnormalities than in the mothers of different controls. However, of 156 cases with multiple ear abnormalities, 11 had mothers with hydroxyethylrutosidea treatment and a characteristic pattern of congenital abnormalities was found in these children. Four cases with multiple ear abnormalities were born to epileptic mothers treated with valproate, phenytoin and polytherapy in two cases. Drug treatments are not important in the origin of isolated ear abnormalities. However, a higher risk of multiple ear abnormalities was found in children born to mothers with treatment of hydroxyethylrutosidea or antiepileptic drugs during pregnancy.     

No association between severe constipation with related drug treatment in pregnant women and congenital abnormalities in their offspring: A population-based case-control study

Constipation is a common pathological condition in pregnant women; nevertheless, its possible association with structural birth defects (i.e. congenital abnormalities [CA]) in their offspring has not been studied in controlled epidemiological studies. We evaluated the possible association between severe constipation with laxative treatment in pregnant women and congenital abnormalities in their offspring. The dataset of the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities (HCCSCA) 1980–1996 contained 22 843 cases with CA and 38 151 matched controls without CA. Only pregnant women with prospectively and medically recorded constipation were included in the study and 13 CA groups were compared in cases and all their matched controls. A total of 78 (0.34%) cases had mothers with severe constipation and treatment during pregnancy compared to 144 (0.38%) controls (adjusted OR with 95% CI = 1.0, 0.7–1.3). Specified groups of CA were also assessed versus controls, but a higher occurrence of pregnant women with severe constipation and related treatment was not found in any CA group. Among laxative drugs, senna has no teratogenic potential; thus, if severe constipation requires laxative drug treatment in pregnant women, senna is not contraindicated. A higher rate of CA was not found in the offspring of pregnant women with severe constipation and related senna treatment.     

Efficacy of medical care of epileptic pregnant women based on the rate of congenital abnormalities in their offspring

The objective of the present study was to check the efficacy of progress in the medical care of epileptic pregnant women on the basis of the reduction of different congenital abnormalities (CAs) in their offspring. First, the prevalence of medically recorded epilepsy was compared in 95 pregnant women who later had offspring with different CAs (case group) and 90 pregnant women who later delivered newborn infants without CA (control group) and matched to cases in the Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996. Second, the rate of different CAs was compared in the offspring of epileptic pregnant women between 1980 and 1989 and 1990-1996. Cleft lip with or without cleft palate, cleft palate, cardiovascular CAs, oesophageal atresia/stenosis, hypospadias and multiple CAs showed a higher risk in the offspring of pregnant women with epilepsy treated with different antiepileptic drugs, explained mainly by polytherapy. There was no higher risk for total CAs after monotherapy. There was no significantly lower rate of total CAs in the offspring of epileptic pregnant women during the second period of the study. The efficacy of special medical care of epileptic pregnant women was not shown on the basis of decrease in the rate of CAs in the offspring of epileptic pregnant women.     

Congenital abnormalities in the offspring of pregnant women with type 1, type 2 and gestational diabetes mellitus: A population‐based case‐control study

To estimate the risk of structural birth defects (i.e. congenital abnormalities [CA]) in the offspring of pregnant women with type 1 (DM‐1), type 2 (DM‐2) and gestational diabetes mellitus (GDM) and to check the efficacy of recent specific care of diabetic pregnant women in the reduction of DM‐related CA. Comparison was made of the occurrence of medically recorded types of diabetes mellitus in pregnant women who had malformed fetuses/newborns (cases) and who delivered healthy babies (controls) in the population‐based Hungarian Case‐Control Surveillance System of Congenital Abnormalities, 1980–1996. In the case group, which included 22 843 offspring, there were 79 (0.35%) pregnant women with DM‐1, 77 (0.34%) pregnant women with DM‐2 and 120 (0.53%) pregnant women with GDM. The control group comprised 38 151 newborns, and 88 (0.23%), 141 (0.37%) and 229 (0.60%) pregnant women with DM‐1, DM‐2 and GDM, respectively. The total rate of cases with CA was higher only in the DM‐1 group (adjusted OR with 95% CI: 1.5, 1.1–2.0) and within four specific types/groups: isolated renal a/dysgenesis, obstructive CA of the urinary tract, cardiovascular CA and multiple CA; namely, caudal dysplasia sequence. The risk of total CA was lower in the present study compared to the risk in previous studies and the DM‐1‐related spectrum of CA was also different. There was no higher risk of total CA in the offspring of pregnant women with DM‐2 and GDM. The certain part of maternal teratogenic effect of DM‐1 is preventable with appropriate periconceptional and prenatal care of diabetic women.     

Delineation of a multiple congenital abnormality syndrome in the offspring of pregnant women affected with high fever-related disorders: a population-based study

Our previous study showed an association between high fever-related maternal diseases during the second and/or third gestational months and a higher risk of multiple congenital abnormalities (MCA) in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The objective of our analysis is to attempt the delineation of the spectrum of the characteristic component defects of an MCA syndrome associated with high fever-related maternal diseases. Of 1349 cases with MCA without recognized genetic and teratogenic syndromes in the total dataset, 181 had a possible association with influenza, common cold with secondary complications, tonsillitis and recurrent orofacial herpes with high fever in the second and/or third gestational months. At the evaluation of component defects in these 181 MCA cases, an association was found between the components of the so-called two schisis-type defects, such as neural-tube defects and orofacial cleft, in addition to microphthalmos, neurogenic limb contractures, and indeterminate sex (i.e. maldevelopment of male external genital organs, such as hypoplasia of the penis and pseudohermaphroditism). In addition, previous findings that showed an association between high fever and facial anomalies (micrognathia and midfacial hypoplasia), microcephaly and defects of external ears, were confirmed in our dataset. Thus, we delineated the maternal high fever-related MCA syndrome, including the above component defects and this MCA syndrome was identified in 38 MCA (21.0%) among 181 MCA babies born to mothers with high fever-related diseases. In the total dataset of 1349 MCA, 2.8% of cases can be associated with high fever.     

Teratogenic potential of pholedrine: A sympathomimetic vasoconstrictive drug – A population‐based case‐control study

Pholedrine was a frequently used drug for the treatment of severe hypotension in some countries, including Hungary. The possible teratogenic effect of pholedrine was not checked; therefore; the birth outcomes, particularly congenital abnormalities (CAs), of infants born to women treated with pholedrine during pregnancy, and pregnancy complications were evaluated in the population‐based large dataset of the Hungarian Case‐Control Surveillance System of Congenital Abnormalities. Cases with CA and their matched controls without CA born to mothers with pholedrine use during pregnancy were compared. Of 22 843 cases and 38 151 controls, 768 (3.4%) and 1509 (4.0%) were born to mothers with pholedrine treatment, respectively (adjusted odds ratios [OR] with 95% CI: 0.9, 0.8–1.0). There was no higher risk for any CA group in the offspring of mothers who used pholedrine during the second and/or third month of pregnancy (i.e. the critical period of most major CA). The mean gestational week at delivery and birthweight was similar in newborns of women with or without pholedrine treatment during pregnancy. The pattern of pregnancy complications was characteristic (lower incidence of preeclampsia/eclampsia, while higher incidence of severe nausea/vomiting and anemia), explained mainly by the underlying maternal hypotension. In conclusion, pholedrine treatment in pregnant women was not associated with a higher risk for CA or other adverse birth outcomes, such as preterm birth or low birthweight. The knowledge of the teratogenic potential of pholedrine may contribute to the evaluation of other sympathomimetic drugs.     

Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population‐based case‐control study

The objective of the present study was to estimate the preventive effect of folic acid for structural birth defects (i.e. congenital abnormalities [CAs]) in the offspring of pregnant women with diabetes mellitus type 1 (DM-1). The occurrence of medically recorded DM-1 in pregnant women who had malformed fetuses/newborns (cases) and delivered healthy babies (controls) with or without folic acid supplementation was compared in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. The case group included 22,843 offspring, and there were 79 (0.35%) pregnant women with DM-1, while the control group comprised of 38,151 newborns, and 88 (0.23%) had mothers with DM-1. Case mothers with DM-1 associated with a higher risk of total rate of CAs in their offspring (OR with 95% CI: 1.5, 1.1-2.0) compared to the total rate of CAs in the offspring of non-diabetic case mothers. This higher risk can be explained by four specific types/groups of CAs: isolated renal a/dysgenesis; obstructive CA of the urinary tract; cardiovascular CAs; and multiple CAs, namely caudal dysplasia sequence. However, there was no higher rate of total CAs in the children of pregnant women with DM-1 after folic acid supplementation; in addition, neural-tube defect and renal a/dysgenesis did not occur. However, this benefit cannot be explained by the CA reduction effect of folic acid during the critical period of major CAs. In conclusion, there was a certain reduction in maternal teratogenic effect of DM-1 after folic acid supplementation during pregnancy, but the explanation of this effect requires further study.     

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??Objective??To approach the performance of digital subtraction angiography??DSA?? in the early diagnosis and treatment with drug perfusion therapy in children with cerebral infarction after the congenital heart disease surgery??then assess the outcome. Methods??From January 2015 to December 2016??6 patients with cerebral infarction developed neurologic symptoms??including facial paralysis??physical activity disorders or convulsions within 12 hours to 3 days after surgery for congenital heart disease. After being diagnosed with ischemic cerebrovascular disease by initial magnetic resonance imaging??MRI???? patients were made a definite diagnosis through DSA and given intravenous infusion of internal carotid artery at the same time. Patients were treated to improve circulation??anticoagulation??intravenous thrombolysis and rehabilitation after DSA. Clinical symptoms were observed at 6 hours??1 day??3 days??1 week and 1 month after operation. Patients were followed up for 1 month to 3 months. Results??After successful DSA surgery and drug perfusion therapy??neurologic symptoms in patients were improved. Facial paralysis was improved in 5 of 6 patients at 6 h??1 d and 2 d of DSA??and limb muscle strength was also improved. Physical activity was gradually improved in 2 patients at the third day after DSA surgery. All cases had no signs of recurrence??serious complications or sequalae??no DSA perioperative bleeding??infection??cognitive dysfunction or physical disability?? in the follow-up??and muscle strength was significanthy improved. Conclusion??The early diagnosis is crucial to children with cerebral infarction after the surgery for congenital heart disease.     

中国儿童先天性心脏病介入治疗回顾与展望

<正>随着心外科手术技术和体外循环技术的发展,儿童先天性心脏病(先心病)手术治疗成功率显著提高,但外科手术的巨大创伤一定程度限制了开胸体外循环手术的推广,微创、安全的介入治疗应运而生并不断发展。1953年Rubio应用改良自输尿管的钢丝导管治疗1例10月龄肺动脉瓣狭窄婴儿,被誉为儿童心脏病介入治疗的开端。1966年Rashkind等报道采用球囊导管房间隔造口     

先天性心脏病患儿及父母生存质量研究现状

先天性心脏病(CHD)给家庭和社会带来了沉重的经济和社会负担。生存质量(QOL)可用来评估疾病疗效和社会功能恢复情况。文章介绍CHD患儿和父母的QOL国内外研究现状和对应量表特点,讨论在我国CHD领域开展QOL研究面临的困难、可以采取的措施和此项工作的应用前景。     

Effects of ghrelin on growth and cardiac function in infants with congenital heart disease

Background: Ghrelin has effects on appetite and growth. Recent reports suggest effects on cardiac function, but no study has evaluated the ghrelin levels of congenital heart disease (CHD) infants with heart failure. The purpose of the present study was therefore to investigate the relationship between ghrelin level and growth and cardiac function in CHD infants. Methods: Twenty‐eight infants with CHD were eligible for the study. Blood samples were obtained at the time of insertion of intracardiac catheter and correlation was examined between ghrelin plasma level and anthropometric parameters, including z score of height and weight, body mass index (BMI), and %bodyweight gain rate, severity of heart failure, and the levels of leptin and insulin‐like growth factor‐1. Results: In the CHD group, active ghrelin (A‐Ghr) had a significant negative correlation with z score of bodyweight, and a significant positive correlation with cardiac function. There were no correlations, however, with height and BMI. A‐Ghr levels were significantly higher in the high heart failure index score group. Significant correlation between A‐Ghr and desacyl‐ghrelin in the CHD group was observed. Conclusions: A‐Ghr is involved in cardiac function and has little effect on their physique in infants with CHD.     

Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study

Multiple congenital abnormalities (MCA) represent the most severe category of structural birth defects, (i.e. congenital abnormalities [CA]). Unfortunately, most MCA are not recognized and/or identified as MCA syndromes or MCA associations in the clinical practice. The term unclassified MCA (UMCA) is used for this category of MCA. We decided to evaluate the component CA of UMCA cases. The population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities (1980-1996) was evaluated. 'False' MCA, such as complex CA, polytopic field defects and sequences were excluded from the category of MCA. In addition, MCA syndromes caused by chromosomal aberrations and major mutant genes with preconceptional origin were excluded from the dataset of the Surveillance. MCA syndromes caused by teratogens and MCA associations with well-defined component CA were also excluded in the study. Thus, only UMCA cases (i) without the recognition of previously delineated MCA syndromes (ii) and/or without the identification of new MCA syndromes or (iii) caused by random combination of CA were included in the study. We compared data from 1349 cases with UMCA, 2405 matched population controls without any CA, and 21 494 malformed controls with isolated CA. There was a higher rate of stillbirth and a moderate male excess in UMCA cases, a somewhat shorter gestational age at delivery and an obvious reduction in birthweight. The intrauterine fetal growth retardation and rate of low-birthweight newborns showed an association with the number of component CA in UMCA cases. A similar association was not found with gestational age and the rate of preterm birth. UMCA represent one of the most severe categories of CA. The degree of intrauterine fetal growth retardation depends on number of component CA in UMCA cases.     

克罗恩病患儿英夫利西单抗维持治疗前血药浓度与疾病转归的关系

目的 探讨维持治疗前英夫利西单抗血药浓度(infliximab trough level,IFX-TL)与克罗恩病(Crohn’s disease,CD)患儿疾病转归之间的关系。方法 回顾性选取2018年8月—2021年11月首次规律接受英夫利西单抗(infliximab,IFX)诱导治疗并于维持治疗前测定IFX-TL的35例CD患儿为研究对象,收集基线及维持治疗前的临床资料及实验室指标,分析不同转归与IFX-TL之间的关系。结果 临床缓解组、内镜缓解组和联合缓解组IFX-TL均高于相应未缓解组,差异有统计学意义(P<0.05),生物学缓解组与未缓解组IFX-TL比较差异无统计学意义(P>0.05)。受试者工作特征曲线结果显示,IFX-TL预测临床缓解的最佳截断值为2.3μg/mL,曲线下面积为0.959 (95%CI:0.894～1,P<0.001),灵敏度为90%,特异度为100%。结论 在接受IFX治疗的CD患儿中,维持治疗前得到临床和内镜缓解的患儿有更高的IFX-TL,IFX-TL对临床缓解有预测价值。[中国当代儿科杂志,2022,24 (11):1246-1...