Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Background

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Methods

Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.

Results

Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.

Conclusion

This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.

     

Antenatal corticosteroids and outcomes in gastroschisis: A multicenter retrospective cohort study

Objective

In gastroschisis, there is evidence to suggest that gut dysfunction develops secondary to bowel inflammation; we aimed to evaluate the effect of maternal antenatal corticosteroids administered for obstetric reasons on time to full enteral feeds in a multicenter cohort study of gastroschisis infants.

Methods

A three center, retrospective cohort study (1992-2013) with linked fetal/neonatal gastroschisis data was conducted. The primary outcome measure was time to full enteral feeds (a surrogate measure for bowel function) and secondary outcome measure was length of hospital stay. Analysis included Mann-Whitney and Cox regression.

Results

Of 500 patients included in the study, 69 (GA at birth 34 [25-38] weeks) received antenatal corticosteroids and 431 (GA at birth 37 [31-41] weeks) did not. Antenatal corticosteroids had no effect on the rate of reaching full feeds (Hazard ratio HR 1.0 [95% CI: 0.8-1.4]). However, complex gastroschisis (HR 0.3 [95% CI: 0.2-0.4]) was associated with an increased time to reach full feeds and later GA at birth (HR 1.1 per week increase in GA [95% CI: 1.1-1.2]) was associated with a decreased time to reach full feeds.

Conclusion

Maternal antenatal corticosteroids use, under current antenatal steroid protocols, in gastroschisis is not associated with an improvement in neonatal outcomes such as time to full enteral feeds or length of hospital stay.     

Converting wasteland into wonderland by earthworms—a low-cost nature’s technology for soil remediation: a case study of vermiremediation of PAHs contaminated soil

Earthworms in general are tolerant to many chemical contaminants including heavy metals and organic pollutants in soil and can bio-accumulate them in their tissues. Earthworms species like Eisenia fetida, Eisenia tetraedra, Lumbricus terrestris, Lumbricus rubellus and Allobophora chlorotica have been found to remove heavy metals (Cd, Pb, Cu, Hg, etc.) pesticides and lipophilic organic micropollutants like the polycyclic aromatic hydrocarbons (PAH) from the soil. They ‘absorb’ the dissolved chemicals through the moist ‘body wall’ in the interstitial water and also ‘ingest’ by mouth while the soil passes through the gut. They either ‘bio-transform’ or ‘biodegrade’ the chemical contaminants rendering them harmless in their bodies. Meanwhile the quality of the soil is improved significantly in terms of physical, chemical and biological properties as the worms thoroughly upturn and disperse the soil, ingest large volumes of soil and excrete nutritive materials (NKP and micronutrients) in the form of ‘vermicasts’ along with millions of beneficial soil microbes including nitrogen fixers.     

Correction to: Globally regional life cycle analysis of automotive lithium-ion nickel manganese cobalt batteries

Mitigation and Adaptation Strategies for Global Change - The article Globally regional life cycle analysis of automotive lithium-ion nickel manganese cobalt batteries written by Jarod C. Kelly,...