37 research outputs found
The Trouble with de Sitter Space
In this paper we assume the de Sitter Space version of Black Hole
Complementarity which states that a single causal patch of de Sitter space is
described as an isolated finite temperature cavity bounded by a horizon which
allows no loss of information. We discuss the how the symmetries of de Sitter
space should be implemented. Then we prove a no go theorem for implementing the
symmetries if the entropy is finite. Thus we must either give up the finiteness
of the de Sitter entropy or the exact symmetry of the classical space. Each has
interesting implications for the very long time behavior. We argue that the
lifetime of a de Sitter phase can not exceed the Poincare recurrence time. This
is supported by recent results of Kachru, Kallosh, Linde and Trivedi.Comment: 15 pages, 1 figure. v2: added fifth section with comments on long
time stability of de Sitter space, in which we argue that the lifetime can
not exceed the Poincare recurrence time. v3: corrected a minor error in the
appendi
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.Genetics of disease, diagnosis and treatmen
Vascular Remodeling in Health and Disease
The term vascular remodeling is commonly used to define the structural changes in blood vessel geometry that occur in response to long-term physiologic alterations in blood flow or in response to vessel wall injury brought about by trauma or underlying cardiovascular diseases.1, 2, 3, 4 The process of remodeling, which begins as an adaptive response to long-term hemodynamic alterations such as elevated shear stress or increased intravascular pressure, may eventually become maladaptive, leading to impaired vascular function. The vascular endothelium, owing to its location lining the lumen of blood vessels, plays a pivotal role in regulation of all aspects of vascular function and homeostasis.5 Thus, not surprisingly, endothelial dysfunction has been recognized as the harbinger of all major cardiovascular diseases such as hypertension, atherosclerosis, and diabetes.6, 7, 8 The endothelium elaborates a variety of substances that influence vascular tone and protect the vessel wall against inflammatory cell adhesion, thrombus formation, and vascular cell proliferation.8, 9, 10 Among the primary biologic mediators emanating from the endothelium is nitric oxide (NO) and the arachidonic acid metabolite prostacyclin [prostaglandin I2 (PGI2)], which exert powerful vasodilatory, antiadhesive, and antiproliferative effects in the vessel wall