6 research outputs found
How environmental regulations affect innovation in the Australian oil and gas industry: going beyond the Porter hypothesis
The impact of environmental regulation on innovation is of central interest to many industries and policy makers alike. While traditional research adopts a top-down view of regulation and attempts to measure the innovation response, the more bottom-up view of contemporary theory argues that firms produce innovations that exceed compliance levels as a competitive strategy. We approach this dichotomy by investigating innovation introduced by Australian oil and gas firms in light of environmental regulatory compliance burden and firm-level characteristics, including competitive capabilities. Analyses of survey responses, executive-level interviews and conference proceedings reveal both regulatory (top-down) and competitive advantage (bottom-up) perspectives explain innovation in this industry. Regression analyses reveal that product/service and novel innovations (all types) are related to a high compliance burden, competitive skills, research and development activity, and engagement in formal collaborations. Interview and conference data add nuance to our findings revealing collaborative compliance frameworks result in similar innovation outcomes
COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary Disease
COVID-19 in a Child with Pre-Existing Immunodeficiency, Cardiomyopathy, and Chronic Pulmonary Disease
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
Abstract
Introduction Arthrogryposis is characterized by the presence of multiple contractures at birth and can be caused by pathogenic variants in TTN (Titin). Exons and variants that are not expressed in one of the three major isoforms of titin are referred to as “metatranscript-only” and have been considered to be only expressed during fetal development. Recently, the metatranscript-only variant (c.39974–11T > G) in TTN with a second truncating TTN variant has been linked to arthrogryposis multiplex congenita and myopathy.
Methods Via exome sequencing we identified the TTN c.39974–11T > G splice variant in trans with one of three truncating variants (p.Arg8922*, p.Lys32998Asnfs*63, p.Tyr10345*) in five individuals from three families. Clinical presentation and muscle ultrasound as well as MRI images were analyzed.
Results All five patients presented with generalized muscular hypotonia, reduced muscle bulk, and congenital contractures most prominently affecting the upper limbs and distal joints. Muscular hypotonia persisted and contractures improved over time. One individual, the recipient twin in the setting of twin-to-twin transfusion syndrome, died from severe cardiac hypertrophy 1 day after birth. Ultrasound and MRI imaging studies revealed a recognizable pattern of muscle involvement with striking fibrofatty involvement of the hamstrings and calves, and relative sparing of the femoral adductors and anterior segment of the thighs.
Conclusion The recurrent TTN c.39974–11T > G variant consistently causes congenital arthrogryposis and persisting myopathy providing evidence that the metatranscript-only 213 to 217 exons impact muscle elasticity during early development and beyond. There is a recognizable pattern of muscle involvement, which is distinct from other myopathies and provides valuable clues for diagnostic work-up.</jats:p
