The Impact of Mother's Living Environment Exposure on Genome Damage, Immunological Status, and Sex Hormone Levels in Newborns.

Background: The aim of this study was to compare for the first time IL-6 (Interleukin 6), testosterone (T) and estradiol (E) levels, their ratio (E/T), micronucleus (MN), and nuclear bridge (NB) frequency between newborns with regard to their mother's residency and diet. Our results should enable an assessment of the possible environmental endocrine effects and interaction between biomarkers, pointing to possible associated health risks. Methods: Fifty full-term newborns of both sexes, whose mothers were healthy and not occupationally exposed to any known carcinogen, were analyzed. All of the mothers filled in a detailed questionnaire. Results: The results showed significantly higher levels of E in newborns of mothers with agricultural residency than those born by mothers with urban residency. Significantly, lower levels of E were measured in newborns of mothers who drank milk and carbonated beverages more frequently. Testosterone was significantly higher in boys of mothers with agricultural residency than from mothers with urban residency. Residence and other parameters had no impact on the difference in MN frequency. IL-6 levels were higher in newborns of mothers with agricultural residency. NB levels were significantly associated with E. A significant association between E levels and IL-6 was found. Conclusion: Our results were the first to show a significant impact of the mother's agricultural residency and diet on their newborns' sex hormone and IL-6 levels and their association.

Severe liver injury while using umbilical venous catheter: case series and literature review.

OBJECTIVE: Proper position of umbilical venous catheter (UVC) is of importance to avoid severe complications. We review clinical presentations of neonates with UVC who developed catheter-associated liver injury. STUDY DESIGN: We reviewed institutional intensive care database (2008-2013) and identified neonates with UVCs who developed severe hepatic injury. We recorded admission diagnosis, gestational age, birth weight, number of days the umbilical catheter was in place, its radiological position at insertion and at the time of injury, presenting clinical signs, and outcomes. RESULTS: Of 1,081 neonates, 9 (0.8% [95% exact binomial confidence interval, 0.4-1.6%]) with UVC developed severe hepatic injury. All had the UVC malpositioned within the liver circulation. All presentations were life threatening, with acute abdominal distension (hepatomegaly) being the most consistent sign. Two neonates died from complications which were unrelated to catheter-associated liver injury. CONCLUSIONS: In all neonates with liver injury, UVC was malpositioned within the portal circulation. Despite the fact that our report provides only circumstantial evidence for the mechanism of injury, it supports reports which suggest that "low" UVC position increases potential for this type of complication. Acute onset of abdominal distension in a neonate with UVC should prompt ultrasonographic evaluation of position of the catheter tip.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs.