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On the Analysis of Protein Genetic Architecture: Response to "Protein sequence landscapes are not so simple".
bioRxiv
December 2024
Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA.
We recently reanalyzed 20 combinatorial mutagenesis datasets using a novel reference-free analysis (RFA) method and showed that high-order epistasis contributes negligibly to protein sequence-function relationships in every case. Dupic, Phillips, and Desai (DPD) commented on a preprint of our work. In our published paper, we addressed all the major issues they raised, but we respond directly to them here.
View Article and Find Full Text PDFTwenty years of intervention optimization.
Ann Behav Med
December 2024
Department of Social and Behavioral Sciences, School of Global Public Health, New York University, New York, NY 10003, United States.
In the classical paradigm for intervention research, the components that are to make up an intervention are identified, pilot tested, and then immediately assembled into a treatment package and subjected to an evaluation randomized controlled trial (RCT) to assess the performance of the entire package. Intervention optimization, which adapts ideas from technological fields to intervention science in order to hasten scientific progress, is an alternative to the classical paradigm. The first article introducing intervention optimization via the multiphase optimization strategy (MOST) was published in Annals of Behavioral Medicine in 2005.
View Article and Find Full Text PDFPIK3CA-Related Overgrowth Spectrum: Exploring Brain Growth From Fetal to Infant.
Pediatr Neurol
November 2024
Department of Neonatology, Unidade Local de Saúde de Vila Nova de Gaia, Vila Nova de Gaia, Portugal.
Background: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a rare neurological disorder characterized by abnormal brain size, vascular malformations, and body overgrowth. MCAP is caused by somatic mosaicism of PIK3CA, a crucial gene in regulation of cell growth and survival, and is one of the disorders in the PIK3CA-related overgrowth spectrum.
Methods: We present a unique clinical report of a male infant diagnosed with MCAP from prenatal stages to age 12 months.
Addressing the Human Experience of Chronic Kidney Disease: A Call to Transform Kidney Care.
Adv Ther
December 2024
Department of Clinical Research and Epidemiology, Comprehensive Heart Failure Center, University Hospital of Würzburg, Würzburg, Germany.
Chronic kidney disease (CKD), a long-term condition in which kidney function declines over time, is a growing global healthcare concern. CKD can have a major impact on the quality of life of patients and their caregivers. Recent research by the International Society of Nephrology highlights that current treatment strategies and policies do not fully address patients' needs.
View Article and Find Full Text PDFIs a Government-Led Approach to Surveil Unhealthy Commodity Industries Feasible? Comment on "National Public Health Surveillance of Corporations in Key Unhealthy Commodity Industries - A Scoping Review and Framework Synthesis".
Int J Health Policy Manag
December 2024
NCD Alliance, Washington, DC, USA.
Bennett and colleagues' paper aims to synthesize the existing frameworks to identify and monitor unhealthy commodity industry's (UCI's) influence on health "to create a template surveillance system to be used by national governments across industries." In this commentary, we argue that to achieve a robust government-led national surveillance system, some challenges should be considered, such as () addressing power asymmetries between government and UCIs involved in policy-making, () evaluating competing interests among government constituencies to achieve policy coherence around health issues, and () contemplate whether governments rely on private or corporate donors and partners that may threaten financing and operationalization of the surveillance. Suggestions on how to overcome these challenges are beyond the scope of this commentary, but we discuss some cases of bottom-up approaches from organized groups aiming to hold UCIs accountable.
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