Which Physical Quantity Deserves the Name “Quantity of Heat”?

“What is heat?” was the title of a 1954 article by Freeman J. Dyson, published in Scientific American. Apparently, it was appropriate to ask this question at that time. The answer is given in the very first sentence of the article: heat is disordered energy. We will ask the same question again, but with a different expectation for its answer. Let us imagine that all the thermodynamic knowledge is already available: both the theory of phenomenological thermodynamics and that of statistical thermodynamics, including quantum statistics, but that the term “heat” has not yet been attributed to any of the variables of the theory. With the question “What is heat?” we now mean: which of the physical quantities deserves this name? There are several candidates: the quantities Q, H, Etherm and S. We can then formulate a desideratum, or a profile: What properties should such a measure of the quantity or amount of heat ideally have? Then, we evaluate all the candidates for their suitability. It turns out that the winner is the quantity S, which we know by the name of entropy. In the second part of the paper, we examine why entropy has not succeeded in establishing itself as a measure for the amount of heat, and we show that there is a real chance today to make up for what was missed.

Nonsense variant of NR0B1 causes hormone disorders associated with congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) is a rare X-linked recessive inherited disease that is considered a major cause of steroidogenesis disorder and is associated with variants or complete deletion of the NR0B1 gene. The DAX-1 protein (encoded by NR0B1) is a vertebrate-specific orphan nuclear receptor and is also a transcriptional factor for adrenal and reproductive development. CAH usually causes adrenal insufficiency in infancy and early childhood, leading to hypogonadotropic hypogonadism in adulthood; however, few adult cases have been reported to date. In this study, we examined a Chinese family with one adult patient with CAH, and identified a putative variant of NR0B1 gene via next-generation sequencing (NGS), which was confirmed with Sanger sequencing. A novel nonsense variant (c.265C>T) was identified in the NR0B1 gene, which caused the premature termination of DAX-1 at residue 89 (p.G89*). Furthermore, mutant NR0B1 gene displayed a partial DAX-1 function, which may explain the late pathogenesis in our case. Additionally, qPCR revealed the abnormal expression of four important genes identified from ChIP-seq, which were associated with energy homeostasis and steroidogenesis, and were influenced by the DAX-1 mutant. In addition, hormone disorders can be caused by DAX-1 mutant and partially recovered by siRNA of PPARGC1A. Herein, we identified a novel nonsense variant (c.265C>T) of NR0B1 in a 24-year-old Chinese male who was suffering from CAH. This mutant DAX-1 protein was found to have disordered energy homeostasis and steroidogenesis based on in vitro studies, which was clinically consistent with the patient’s phenotypic features.

Glassiness in cellular Potts model of biological tissue is controlled by disordered energy landscape

Glassy dynamics in a confluent monolayer is indispensable in morphogenesis, wound healing, bronchial asthma, and many others; a detailed theoretical understanding for such a system is, therefore, important. We combine numerical simulations of a cellular Potts model and an analytical study based on random first order transition (RFOT) theory of glass, develop a comprehensive theoretical framework for a confluent glassy system, and show that glassiness is controlled by the underlying disordered energy landscape. Our study elucidates the crucial role of geometric constraints in bringing about two distinct regimes in the dynamics, as the target perimeter P0 is varied. The extended RFOT theory provides a number of testable predictions that we verify in our simulations. The unusual sub-Arrhenius relaxation results from the distinctive interaction potential arising from the perimeter constraint in a regime controlled by geometric restriction. Fragility of the system decreases with increasing P0 in the low-P0 regime, whereas the dynamics is independent of P0 in the other regime. The mechanism, controlling glassiness in a confluent system, is different in our study in comparison with vertex model simulations, and can be tested in experiments.

Superfluids, Fluctuations and Disorder

We present a field-theory description of ultracold bosonic atoms in the presence of a disordered external potential. By means of functional integration techniques, we aim to investigate and review the interplay between disordered energy landscapes and fluctuations, both thermal and quantum ones. Within the broken-symmetry phase, up to the Gaussian level of approximation, the disorder contribution crucially modifies both the condensate depletion and the superfluid response. Remarkably, it is found that the ordered (i.e., superfluid) phase can be destroyed also in regimes where the random external potential is suitable for a perturbative analysis. We analyze the simplest case of quenched disorder and then we move to present the implementation of the replica trick for ultracold bosonic systems. In both cases, we discuss strengths and limitations of the reviewed approach, paying specific attention to possible extensions and the most recent experimental outputs.