Another preprint that we've been looking forward to sharing: how we used LRS to identify missing disease-causing variants in three families with Incontinentia Pigmenti. This includes one individual with a unique mosaic inversion. Overall, I believe LRS is the best first-line test for suspected cases of IP. https://lnkd.in/gPSKMp6p
#Longreadsequencing is being utilized to improve the detection of pathogenic and novel variations in patients with #rarediseases. #clinicalgenetics #clinicalgenomics #clinicalgenetictesting #genomicmedicine #humangenetics #medicalgenetics https://lnkd.in/eQT8f6Hk
Microclots/microthrombi and NETs/nucleosomes are not only elevated during acute infectious illness and remain elevated above normal LC PASC but also during many other diseases and disorders positively correlating with symptom severity. Covalently immobilized heparin whole blood purification can likely remove them when they are persistently elevated in the blood circulation. This treatment may also help the immune system to better clear them from the tissues when needed to promote better wound healing and tissue regeneration in response to disease triggers and trauma. https://lnkd.in/gg4dzRB6 New Preprint From Pretorius and Theirry et. al. 2024 Circulating microclots are structurally associated with Neutrophil Extracellular Traps and their amounts are strongly elevated in long COVID patients https://lnkd.in/eZExDSpz
13 Fascinating Scientific Facts About Blue Eyes - We talked to medical experts to discover fun facts about blue eyes, like whether your biological family is bigger than you ever imagined. #southgroup https://lnkd.in/ecfwrJi6
Professor, Founder of The Well-Being Laboratory, Best-Selling Author📚x 3 including The Art of Insubordination: How To Dissent & Defy Effectively. More at: toddkashdan.com
Brand new research from an independent team showing support for our Five Dimensional Curiosity Model. In case you aren't familiar, here are the five dimensions. Love seeing this used in new populations. Interesting to see how deprivation sensitivity is lower than the population in medical students. I view that as a potential problem. I want doctors who notice gaps in their knowledge and act on it to figure out some answers. Get more details in the comments below ⬇️
Regardless of the election outcome, the spirit of Project 2025 will forge ahead. There is a plan, and people will not give up on plans due to a lost election but look for a different path to get their way. Politics has always danced with science, and it does, regardless of that plan. Research integrity solutions must be in place regardless of the latest technological fad. I wholeheartedly commend Sara for her proactive stance. She doesn't just talk about the issues; she proposes tangible actions. #FoSci #ResearchIntegrity
Collaborative senior leader, #openscience #openaccess advocate, creator/innovator/disrupter, social innovation enthusiast, good-trouble-maker
I've been to four publishing/open science conferences in the last three weeks and one thing I've been missing is the "war games/scenario planning" for the not-so-black-swan event of a second Trump Administration. Gutting the NIH can't be the only impact on the science funding. #Project2025 anyone? How will scholarly publishing be impacted with Javier Milei levels of administrative downsizing? Impacts for scholars, institutions, and publishing/service providers? This is a 50/50 possibility. Are we planning for it? Or is #scholcomm once again sleep walking into a paradigm shift we should have anticipated? https://lnkd.in/eHYdXpz8
At present, a reduction in saturated fats cannot be recommended to prevent cardiovascular diseases and mortality #preprint Sat Fat Restriction for CVD Prevention: Systematic Review and Meta-Analysis of Randomized Controlled Trials https://lnkd.in/gses-4ZA
Three new Adaptive manuscripts shed light on the complex relationship between T-cell responses and various exposures, offering new avenues for research and clinical applications. Learn more: https://lnkd.in/exxgHGrd
In our new blog post, I talk about our recent work that gives us powerful new insight into the shared immune responses to exposures.
Three new Adaptive manuscripts shed light on the complex relationship between T-cell responses and various exposures, offering new avenues for research and clinical applications. Learn more: https://lnkd.in/exxgHGrd
