69 research outputs found
Quantum Revivals in a Periodically Driven Gravitational Cavity
Quantum revivals are investigated for the dynamics of an atom in a driven
gravitational cavity. It is demonstrated that the external driving field
influences the revival time significantly. Analytical expressions are presented
which are based on second order perturbation theory and semiclassical secular
theory. These analytical results explain the dependence of the revival time on
the characteristic parameters of the problem quantitatively in a simple way.
They are in excellent agreement with numerical results
Clinical impact of genomic testing in patients with suspected monogenic kidney disease
Purpose:
To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.
Methods:
We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.
Results:
ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (pâ<â0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%).
Conclusion:
In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design
Traditional Knowledge and Geographical Indications: Foundations, Interests and Negotiating Positions
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