Progressive osseous heteroplasia: A case report with an unexpected trigger

Progressive osseous heteroplasia (POH) is a rare genetic disorder characterised by progressive heterotopic ossification (HO) within the skin and subcutaneous tissues. The condition is caused by heterozygous inactivating mutations of the GNAS gene and usually presents in infancy. We describe the case of a white male ex-preterm who was first referred because of subcutaneous calcium deposits along the right arm after extravasation of parenteral nutrition. As these lesions progressed, a skin biopsy was undertaken which revealed intramembranous ossification. Genetic testing revealed a constitutional, de novo, heterozygous, nonsense variant in the GNAS gene that has not previously been described, but which is consistent with patient's clinical diagnosis of POH. No endocrine abnormalities or other signs congruent with overlapping conditions were detected. To the best of our knowledge, this is the first case describing an inflammatory trigger in POH. Trials with intravenous bisphosphonate and glucocorticoid as well as with topical sodium thiosulphate were attempted without clinical improvement. Excision of the calcifications and physiotherapy seem to have provided a partial improvement on mobility of the elbow. This case widens the spectrum of phenotypes seen in GNAS mutation disorders and suggests that alternative anti-inflammatory treatments may be effective. Mutations in GNAS should be considered in cases of significant progressive calcium deposition after extravasation injury

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.

OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD: Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT. RESULTS: We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN missense mutation. Three were deceased. Cardiac conduction abnormalities were identified in 7/22 (32%): sustained atrioventricular tachycardia (n = 2), atrial fibrillation (n = 2), nonsustained atrial tachycardia (n = 1), premature supraventricular complexes (n = 1), and unexplained sinus bradycardia (n = 1). In addition, 4/22 (18%) had imaging evidence of otherwise unexplained cardiomyopathy. These findings are supported by histopathologic correlation suggestive of myocardial cytoskeletal remodeling. CONCLUSIONS: Coexisting cardiac and skeletal muscle involvement is not uncommon in patients with HMERF arising due to the c.951434T>C; (p.Cys31712Arg) TTN mutation. All patients with pathogenic or putative pathogenic TTN mutations should be offered periodic cardiac surveillance.Wellcome Trust (101876/Z/13/Z, 096919Z/11/Z), Medical Research Council (UK) (G0601943), Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2).This is the final version of the article. It first appeared from Wolters Kluwer via http://dx.doi.org/10.1212/WNL.000000000000306

Notes on the Third Law of Thermodynamics.I

We analyze some aspects of the third law of thermodynamics. We first review both the entropic version (N) and the unattainability version (U) and the relation occurring between them. Then, we heuristically interpret (N) as a continuity boundary condition for thermodynamics at the boundary T=0 of the thermodynamic domain. On a rigorous mathematical footing, we discuss the third law both in Carath\'eodory's approach and in Gibbs' one. Carath\'eodory's approach is fundamental in order to understand the nature of the surface T=0. In fact, in this approach, under suitable mathematical conditions, T=0 appears as a leaf of the foliation of the thermodynamic manifold associated with the non-singular integrable Pfaffian form $\delta Q_{rev}$. Being a leaf, it cannot intersect any other leaf $S=$ const. of the foliation. We show that (N) is equivalent to the requirement that T=0 is a leaf. In Gibbs' approach, the peculiar nature of T=0 appears to be less evident because the existence of the entropy is a postulate; nevertheless, it is still possible to conclude that the lowest value of the entropy has to belong to the boundary of the convex set where the function is defined.Comment: 29 pages, 2 figures; RevTex fil

Functional and Biogenetical Heterogeneity of the Inner Membrane of Rat-Liver Mitochondria

Rat liver mitochondria were fragmented by a combined technique of swelling, shrinking, and sonication. Fragments of inner membrane were separated by density gradient centrifugation. They differed in several respects: electronmicroscopic appearance, phospholipid and cytochrome contents, electrophoretic behaviour of proteins and enzymatic activities. Three types of inner membrane fractions were isolated. The first type is characterized by a high activity of metal chelatase, low activities of succinate-cytochrome c reductase and of glycerolphosphate dehydrogenase, as well as by a high phospholipid content and low contents of cytochromes aa3 and b. The second type displays maximal activities of glycerolphosphate dehydrogenase and metal chelatase, but contains relatively little cytochromes and has low succinate-cytochrome c reductase activity. The third type exhibits highest succinate-cytochrome c reductase activity, a high metal chelatase activity and highest cytochrome contents. However, this fraction was low in both glycerolphosphate dehydrogenase activity and phospholipid content. This fraction was also richest in the following enzyme activities: cytochrome oxidase, oligomycin-sensitive ATPase, proline oxidase, 3-hydroxybutyrate dehydrogenase and rotenone-sensitive NADH-cytochrome c reductase. Amino acid incorporation in vitro and in vivo in the presence of cycloheximide occurs predominantly into inner membrane fractions from the second type. These data suggest that the inner membrane is composed of differently organized parts, and that polypeptides synthesized by mitochondrial ribosomes are integrated into specific parts of the inner membrane

Science and Film-making

The essay reviews the literature, mostly historical, on the relationship between science and film-making, with a focus on the science documentary. It then discusses the circumstances of the emergence of the wildlife making-of documentary genre. The thesis examined here is that since the early days of cinema, film-making has evolved from being subordinate to science, to being an equal partner in the production of knowledge, controlled by non-scientists

Fine structure of excitons in Cu2_2O

Three experimental observations on 1s-excitons in Cu$_2$O are not consistent with the picture of the exciton as a simple hydrogenic bound state: the energies of the 1s-excitons deviate from the Rydberg formula, the total exciton mass exceeds the sum of the electron and hole effective masses, and the triplet-state excitons lie above the singlet. Incorporating the band structure of the material, we calculate the corrections to this simple picture arising from the fact that the exciton Bohr radius is comparable to the lattice constant. By means of a self-consistent variational calculation of the total exciton mass as well as the ground-state energy of the singlet and the triplet-state excitons, we find excellent agreement with experiment.Comment: Revised abstract; 10 pages, revtex, 3 figures available from G. Kavoulakis, Physics Department, University of Illinois, Urban

Controls of Initial Wood Decomposition on and in Forest Soils Using Standard Material

Forest ecosystems sequester approximately half of the world’s organic carbon (C), most of it in the soil. The amount of soil C stored depends on the input and decomposition rate of soil organic matter (OM), which is controlled by the abundance and composition of the microbial and invertebrate communities, soil physico-chemical properties, and (micro)-climatic conditions. Although many studies have assessed how these site-specific climatic and soil properties affect the decomposition of fresh OM, differences in the type and quality of the OM substrate used, make it difficult to compare and extrapolate results across larger scales. Here, we used standard wood stakes made from aspen (Populus tremuloides Michx.) and loblolly pine (Pinus taeda L.) to explore how climate and abiotic soil properties affect wood decomposition across 44 unharvested forest stands located across the northern hemisphere. Stakes were placed in three locations: (i) on top of the surface organic horizons (surface), (ii) at the interface between the surface organic horizons and mineral soil (interface), and (iii) into the mineral soil (mineral). Decomposition rates of both wood species was greatest for mineral stakes and lowest for stakes placed on the surface organic horizons, but aspen stakes decomposed faster than pine stakes. Our models explained 44 and 36% of the total variation in decomposition for aspen surface and interface stakes, but only 0.1% (surface), 12% (interface), 7% (mineral) for pine, and 7% for mineral aspen stakes. Generally, air temperature was positively, precipitation negatively related to wood stake decomposition. Climatic variables were stronger predictors of decomposition than soil properties (surface C:nitrogen ratio, mineral C concentration, and pH), regardless of stake location or wood species. However, climate-only models failed in explaining wood decomposition, pointing toward the importance of including local-site properties when predicting wood decomposition. The difficulties we had in explaining the variability in wood decomposition, especially for pine and mineral soil stakes, highlight the need to continue assessing drivers of decomposition across large global scales to better understand and estimate surface and belowground C cycling, and understand the drivers and mechanisms that affect C pools, CO2 emissions, and nutrient cycles

Braided racks, Hurwitz actions and Nichols algebras with many cubic relations

We classify Nichols algebras of irreducible Yetter-Drinfeld modules over groups such that the underlying rack is braided and the homogeneous component of degree three of the Nichols algebra satisfies a given inequality. This assumption turns out to be equivalent to a factorization assumption on the Hilbert series. Besides the known Nichols algebras we obtain a new example. Our method is based on a combinatorial invariant of the Hurwitz orbits with respect to the action of the braid group on three strands.Comment: v2: 35 pages, 6 tables, 14 figure