26 research outputs found
Minimal Length Scale Scenarios for Quantum Gravity
We review the question of whether the fundamental laws of nature limit our
ability to probe arbitrarily short distances. First, we examine what insights
can be gained from thought experiments for probes of shortest distances, and
summarize what can be learned from different approaches to a theory of quantum
gravity. Then we discuss some models that have been developed to implement a
minimal length scale in quantum mechanics and quantum field theory. These
models have entered the literature as the generalized uncertainty principle or
the modified dispersion relation, and have allowed the study of the effects of
a minimal length scale in quantum mechanics, quantum electrodynamics,
thermodynamics, black-hole physics and cosmology. Finally, we touch upon the
question of ways to circumvent the manifestation of a minimal length scale in
short-distance physics.Comment: Published version available at
http://www.livingreviews.org/lrr-2013-
Diagnosis and management of Cornelia de Lange syndrome:first international consensus statement
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning
Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19
Clotting Factor V (FV) is primarily synthesized in the liver and when cleaved by thrombin forms pro-coagulant Factor Va (FVa). Using whole blood RNAseq and scRNAseq of peripheral blood mononuclear cells, we find that FV mRNA is expressed in leukocytes, and identify neutrophils, monocytes, and T regulatory cells as sources of increased FV in hospitalized patients with COVID-19. Proteomic analysis confirms increased FV in circulating neutrophils in severe COVID-19, and immunofluorescence microscopy identifies FV in lung-infiltrating leukocytes in COVID-19 lung disease. Increased leukocyte FV expression in severe disease correlates with T-cell lymphopenia. Both plasma-derived and a cleavage resistant recombinant FV, but not thrombin cleaved FVa, suppress T-cell proliferation in vitro. Anticoagulants that reduce FV conversion to FVa, including heparin, may have the unintended consequence of suppressing the adaptive immune system