Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review

Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies.     

Reprint of: Aromatherapy and massage for antenatal anxiety: Its effect on the fetus

Antenatal anxiety has been linked to maternal hypothalamic–pituitary–adrenal axis changes which can affect fetal development and may have lasting effects on the child's psychological development. Treatments for anxiety have hitherto focused on psychotherapy techniques or antidepressant drugs but these do not always effect long-term improvement. Aromatherapy and massage have successfully been used to produce significantly greater improvement in reduction of anxiety. Midwives may highlight anxiety in some of the mothers in their care and can incorporate the holistic approach of aromatherapy and massage into their practice. However, further research is required to establish the efficacy and cost-effectiveness of aromatherapy and massage in the antenatal period.     

Differential effects of bariatric surgery on plasma levels of ANGPTL3 and ANGPTL4

Background and aimAngiopoietin-like 3 (ANGPTL3) and 4 (ANGPTL4) are regulators of triglyceride storage and utilization. Bariatric surgery (BS) leads to profound changes in adipose tissue composition and energy metabolism. We evaluated the impact of BS on plasma levels of ANGPTL3 and ANGPTL4.Methods and resultsTwenty-seven subjects affected by morbid obesity with or without type 2 diabetes (T2D) underwent Roux-en-Y gastric bypass (RYGB) and 18 patients with advanced T2D received Biliopancreatic Diversion (BPD). Fasting ANGPTL proteins levels, insulin sensitivity (evaluated by euglycemic hyperinsulinemic clamp), total bile acids (TBA) and free fatty acids (FFA) were measured at baseline and 1 year after surgery.Both surgical procedures resulted in the loss of fat mass, improved glucose control, and a ～2-fold increase of insulin sensitivity. ANGPTL4 levels decreased significantly with both RYGB (26.6 ± 0.6 to 24.4 ± 0.3 ng/mL, p = 0.001) and BPD (27.9 ± 1.5 to 24.0 ± 0.5 ng/mL, p = 0.003). In contrast, ANGPTL3 concentrations did not change after RYGB but rose following BPD (225 ± 20 to 300 ± 15 ng/mL, p = 0.003). By multiple regression analysis, changes after BS in ANGPTL4 were independently associated with changes in blood glucose, (p = 0.0169) whereas changes in ANGPTL3 were associated with variations in FFA (p = 0.008) and insulin sensitivity (p = 0.043).ConclusionCirculating ANGPTL4 is reduced by BS, probably due to the loss of fat mass and improved insulin sensitivity. Conversely, ANGPTL3 levels increased after BPD, but not after RYGB, presumably because of the metabolic changes induced by the malabsorptive effect of BPD.     

甲基汞对大鼠早期胚胎致畸作用的分子机理研究

为探讨氯化甲基汞（ｍｅｔｈｙｌｍｅｒｃｕｒｙｃｈｌｏｒｉｄｅ，ＭＭＣ）致畸作用的分子机理，本实验应用非放射性原位杂交和免疫组化半定量分析等方法研究了ＭＭＣ对９．５天龄大鼠胚胎５种基因及编码产物的影响。结果显示：染ＭＭＣ各组（０、０．２、０．４、０．８、１．６和３．２ｍｇ／ｋｇ）均未见母鼠有明显的中毒症状和死亡。随着染毒剂量的增加，胚胎形态总得分逐渐降低，畸胎率和发育迟缓率不断增高，最高分别达３４％和７６％；诱生型一氧化氮合成酶（ｉｎｄｕｃｉｂｌｅｎｉｔｒｉｃｏｘｉｄｅｓｙｎｔｈａｓｅ，ｉＮＯＳ）ｍＲＮＡ及其编码蛋白和ＨＳＰ７０ｍＲＮＡ表达明显增强，ＮＴｍＲＮＡ及其编码蛋白表达水平下降，均呈明显剂量—反应关系。此外，ＭＭＣ还抑制ＴＧＦβｍＲＮＡ的表达，但对Ｂｃｌ－２ｍＲＮＡ及其编码蛋白表达的影响不明显。基于胚胎形态、基因和蛋白质表达的结果大体一致，相互佐证，提示在转录水平上多种基因表达异常可能与ＭＭＣ诱导大鼠畸胎发生之间存在密切关联     

Counseling parents of premature neonates on neuroimaging findings

While medical advancements have led to improved survival of extremely premature infants, children remain at risk for brain injury and neurodevelopmental impairment. Brain imaging can offer insight into an infant's acute and long-term outcome; however, counseling parents about the results and implications of brain imaging remains challenging. The purpose of this article is to review the current literature and describe the challenges associated with counseling families of premature infants on neuroimaging findings. We propose a framework to guide clinicians in counseling parents about brain imaging results, informed by best practices in other disciplines: (FIGURE): 1) Formulate a plan 2) Identify parental needs and values 3) Give information 4) Acknowledge Uncertainty 5) Recognize and Respond to emotions 6) Discuss Expectations and Establish follow-up.     

Ideal Cardiovascular Health in adolescents: Findings from Study of Cardiovascular Risks in Adolescents

Background and aimWe assessed the Ideal Cardiovascular Health (CVH) in Brazilian adolescents according to demographics and socioeconomic characteristics.Methods and resultsThis is a cross-sectional study with data from the Study of Cardiovascular Risks in Adolescents (ERICA), with a nationwide representative sample of 36,956 Brazilian adolescents, aged 12–17 years, enrolled in public and private schools. The CVH metrics considered were body mass index (BMI), physical activity, smoking, healthy diet score, blood pressure, fasting plasma glucose, and total cholesterol. The demographics and socioeconomic characteristics analyzed were sex, age, race/skin color, and type of school attended. The study design was considered, and the significant difference determined by the non-overlapping of 95% Confidence Interval. The mean ideal CVH score was 4.0, higher for females, adolescents aged 15–17 years, and students from private schools. The prevalence of ideal fasting plasma glucose was 96%, of non-smoking 95.6%, of ideal blood pressure 75.5%, of ideal BMI 73.2%, of ideal total cholesterol 55.4%, of ideal physical activity 45.2%, and only 0.5% had an ideal diet. The prevalence of ideal CVH metrics varied according to demographics and socioeconomic characteristics.ConclusionFemales, older adolescents, and students who attended private school had a better CVH. Demographics and socioeconomic characteristics were associated with CVH metrics. The low ideal proportions found for diet and physical activity are of concern and reinforce the need for food and nutritional educational actions designed to promote healthy behaviors in adolescence to prevent the development of cardiovascular diseases.