Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies

BACKGROUND: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS). METHODS: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS. RESULTS: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism. CONCLUSIONS: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects.     

Neural tube defects, micronutrient deficiencies, and Helicobacter pylori: a new hypothesis

BACKGROUND: Previous findings for the Texas Neural Tube Defects Project suggested that while maternal access to nutrients is adequate, bioavailability of nutrients to the fetus is compromised in NTD-affected pregnancies. Helicobacter pylori could cause nutrient loss to the fetus. Folate, B12, and ferritin are depleted in H. pylori infection; these same deficiencies are related to NTD risk. METHODS: Using H. pylori IgG ELISA Test System, we tested for H. pylori serum antibodies in participants in the population-based case-control study component of the Texas Neural Tube Defect Project conducted along the Texas-Mexico border. Case-women had pregnancies affected by NTD (anencephalus, spina bifida, encephalocele) and resided and delivered in one of the 14 Texas-Mexico border counties from 1995 through 2000. Control-women were study area residents delivering normal live births during the same period. RESULTS: Of 225 case- and 378 control-women, 103 cases and 156 controls provided questionnaire and H. pylori antibody data. H. pylori seropositivity was modestly associated with NTD-affected pregnancies (OR 1.4; 95% CI: 0.8-2.4). ORs of 2.0 or greater were seen in women younger than age 25 and with less than 7 years education. CONCLUSIONS: Our findings intimate that H. pylori could play a role in NTD causation in certain populations. While results did not provide compelling support for this proposal, subgroup findings prompt us to advocate an evaluation of this hypothesis in developing nations among populations with higher prevalence of H. pylori, marginal nutrient intake, and young childbearing age.     

High prevalence of NTDs in Shanxi Province: a combined epidemiological approach

BACKGROUND: Shanxi Province has historically reported a high prevalence of NTDs. In order to establish baseline rates for NTDs and discuss the risk factors associated with sociodemographic, maternal characteristics, and geographic factors, we performed the present study using an approach combining population and hospital-based methodologies. METHODS: We used chi(2) and Fisher's exact tests to evaluate variation in the prevalence by selected covariates and computed crude ORs and 95% CIs. Adjusted odds ratios (AORs) were performed using logistic regression with all the covariates included in the model. RESULTS: The overall NTD prevalence during the 3 year study period was 199.38 per 10,000 births, with a higher NTD prevalence clustered in 46 villages within this geographic area. However, no statistical significance was found between NTD prevalence and the elevation of the villages or their distance from coal plants. AORs revealed women aged 20 and above had a lower risk of NTDs compared to those younger than 20 (AOR range 0.4-0.5). A higher risk of NTDs was observed among female infants (AOR 1.50; 95% CI: 1.04-2.17), women with four or more previous births (AOR 2.80; 95% CI: 1.20-6.52), and a previous history of birth defects (AOR 3.23; 95% CI: 1.46-7.12). CONCLUSIONS: This study has documented a high prevalence of NTDs in Shanxi. Similar variations to other reports were found in the risk of NTDs by maternal demographic characteristics and a clustering of NTDs in certain villages that require further exploration.     

吻合皮下静脉的带蒂皮瓣修复四肢皮肤软组织缺损的效果分析

摘要 目的：探讨与分析吻合皮下静脉的带蒂皮瓣修复四肢皮肤软组织缺损的效果。方法：选择2018年12月到2021年12月在本院创伤造成的四肢皮肤软组织缺损60例患者作为研究对象,将其随机分为吻合皮下静脉带蒂皮瓣组与传统带蒂皮瓣组各30例。吻合皮下静脉带蒂皮瓣组给予吻合皮下静脉的带蒂皮瓣修复治疗,传统带蒂皮瓣组给予常规直接覆盖创面修复治疗。结果：所有患者都顺利完成手术,吻合皮下静脉带蒂皮瓣组围手术指标时间均较传统带蒂皮瓣组少（P<0.05）。吻合皮下静脉带蒂皮瓣组术后3个月的总有效率为96.7 %,高于传统带蒂皮瓣组的76.7 %（P<0.05）。吻合皮下静脉带蒂皮瓣组术后3个月的并发症发生率较传统带蒂皮瓣组低（P<0.05）。吻合皮下静脉带蒂皮瓣组术后6个月的感觉功能恢复情况好于传统带蒂皮瓣组（P<0.05）。结论：吻合皮下静脉的带蒂皮瓣能促进患者的创面愈合,提高治疗效果,减少并发症,加快恢复患者的四肢皮肤软组织缺损。     

Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases

BACKGROUND: Fluorescent subtelomeric probes for the 41 different subtelomeric regions (the p arms of the acrocentric chromosomes were excluded) have been developed over the last 10 years. These probes can detect deletions, duplications, and translocations in the gene-rich subtelomeric regions of human chromosomes, regions where crossing over frequently occurs and where a high number of abnormalities have been found. Recently, commercially produced probes have become available, which has led to the detection of subtelomeric abnormalities in 7.4% of patients with moderate to severe mental retardation (Knight et al., 1999). CASES: We evaluated 43 dysmorphic children with developmental delay and/or mental retardation of unknown etiology and/or autism who were previously assessed for chromosome abnormalities, metabolic disorders, or recognizable dysmorphic syndromes, all of which were ruled out. Of the 43 children tested, 6 (14%) were found to have subtelomeric aberrations. CONCLUSIONS: We recommend that patients with dysmorphic features and mental retardation of unknown etiology who also have a normal standard chromosome analysis should have subtelomeric FISH testing performed earlier in their clinical workup.     

Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: meeting of experts on preventing folic acid-preventable neural tube defects

BACKGROUND: In April of 2003, The Micronutrient Initiative, in collaboration with several other organizations, convened a group of knowledgeable scientists and policy experts to discuss ways to accelerate the global pace at which countries implement effective and sustainable programs to prevent folic acid-preventable birth defects and other folate-deficiency diseases. Programs implemented to date by fewer than 40 countries have prevented only 10% of the estimated 240,000 annual cases of folic acid-preventable spina bifida and anencephaly. METHODS: Participants in this meeting summarized and presented scientific evidence showing that increased consumption of synthetic folic acid prevents a large proportion of spina bifida and anencephaly cases. They also reviewed related guidance and endorsement issued by national professional societies and advisory bodies as well as policies and programs implemented by some countries that have already demonstrated successful results in terms of reduced rates of neural tube defects and improved folate nutrition. CONCLUSIONS: The group formulated and discussed recommendations and strategies for increasing the pace of neural tube defect prevention globally. The recommendations and strategies are published here.