TBX4 variants and pulmonary diseases:getting out of the 'Box'

Purpose of review In 2013, the association between T-Box factor 4 (TBX4) variants and pulmonary arterial hypertension (PAH) has first been described. Now - in 2020 - growing evidence is emerging indicating that TBX4 variants associate with a wide spectrum of lung disorders. Recent findings TBX4 variants are enriched in both children and adults with PAH. The clinical phenotype associated with a TBX4 variant seems to be milder than that in other PAH-associated gene mutations. Further, TBX4 variants have increasingly been associated with a variety of clinical and histopathological phenotypes, including lethal developmental parenchymal lung diseases such as not only acinar dysplasia in neonates, but also less outspoken parenchymal lung diseases in children and adults. Summary The clinical phenotype of a TBX4 variant has recently been recognised to expand from bone disorders to different types of lung diseases. Recent data suggest that variants of TBX4, a transcription factor known to be an important regulator in embryonic development, are not rare in both children and adults with PAH and/or developmental parenchymal lung diseases

Ideal Bose gas in fractal dimensions and superfluid 4^4He in porous media

Physical properties of ideal Bose gas with the fractal dimensionality between D=2 and D=3 are theoretically investigated. Calculation shows that the characteristic features of the specific heat and the superfluid density of ideal Bose gas in fractal dimensions are strikingly similar to those of superfluid Helium-4 in porous media. This result indicates that the geometrical factor is dominant over mutual interactions in determining physical properties of Helium-4 in porous media.Comment: 13 pages, 6 figure

Local and remote forcing of interannual sea‐level variability at Nantucket Island

© The Author(s), 2022. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Wang, O., Lee, T., Piecuch, C., Fukumori, I., Fenty, I., Frederikse, T., Menemenlis, D., Ponte, R., & Zhang, H. Local and remote forcing of interannual sea‐level variability at Nantucket Island. Journal of Geophysical Research: Oceans, 127(6), (2022): e2021JC018275, https://doi.org/10.1029/2021jc018275.The relative contributions of local and remote wind stress and air-sea buoyancy forcing to sea-level variations along the East Coast of the United States are not well quantified, hindering the understanding of sea-level predictability there. Here, we use an adjoint sensitivity analysis together with an Estimating the Circulation and Climate of the Ocean (ECCO) ocean state estimate to establish the causality of interannual variations in Nantucket dynamic sea level. Wind forcing explains 67% of the Nantucket interannual sea-level variance, while wind and buoyancy forcing together explain 97% of the variance. Wind stress contribution is near-local, primarily from the New England shelf northeast of Nantucket. We disprove a previous hypothesis about Labrador Sea wind stress being an important driver of Nantucket sea-level variations. Buoyancy forcing, as important as wind stress in some years, includes local contributions as well as remote contributions from the subpolar North Atlantic that influence Nantucket sea level a few years later. Our rigorous adjoint-based analysis corroborates previous correlation-based studies indicating that sea-level variations in the subpolar gyre and along the United States northeast coast can both be influenced by subpolar buoyancy forcing. Forward perturbation experiments further indicate remote buoyancy forcing affects Nantucket sea level mostly through slow advective processes, although coastally trapped waves can cause rapid Nantucket sea level response within a few weeks.This research was carried out in part at the Jet Propulsion Laboratory, California Institute of Technology, under a contract with the National Aeronautics and Space Administration (80NM0018D0004). CGP was supported by NASA Sea Level Change Team awards 80NSSC20K1241 and 80NM0018D0004

Photogenerated Carriers in SrTiO3 Probed by Mid-Infrared Absorption

Infrared absorption spectra of SrTiO$_3$ have been measured under above-band-gap photoexcitations to study the properties of photogenerated carriers, which should play important roles in previously reported photoinduced phenomena in SrTiO$_3$. A broad absorption band appears over the entire mid-infrared region under photoexcitation. Detailed energy, temperature, and excitation power dependences of the photoinduced absorption are reported. This photo-induced absorption is attributed to the intragap excitations of the photogenerated carriers. The data show the existence of a high density of in-gap states for the photocarriers, which extends over a wide energy range starting from the conduction and valence band edges.Comment: 5 pages, 5 figures, submitted to J. Phys. Soc. Jp

Field-induced water electrolysis switches an oxide semiconductor from an insulator to a metal

Here we demonstrate that water-infiltrated nanoporous glass electrically switches an oxide semiconductor from an insulator to metal. We fabricated the field effect transistor structure on an oxide semiconductor, SrTiO3, using 100%-water-infiltrated nanoporous glass - amorphous 12CaO*7Al2O3 - as the gate insulator. For positive gate voltage, electron accumulation, water electrolysis and electrochemical reduction occur successively on the SrTiO3 surface at room temperature, leading to the formation of a thin (~3 nm) metal layer with an extremely high electron concentration of 10^15-10^16 cm^-2, which exhibits exotic thermoelectric behaviour.Comment: 21 pages, 12 figure

Lattice dynamics effects on small polaron properties

This study details the conditions under which strong-coupling perturbation theory can be applied to the molecular crystal model, a fundamental theoretical tool for analysis of the polaron properties. I show that lattice dimensionality and intermolecular forces play a key role in imposing constraints on the applicability of the perturbative approach. The polaron effective mass has been computed in different regimes ranging from the fully antiadiabatic to the fully adiabatic. The polaron masses become essentially dimension independent for sufficiently strong intermolecular coupling strengths and converge to much lower values than those tradition-ally obtained in small-polaron theory. I find evidence for a self-trapping transition in a moderately adiabatic regime at an electron-phonon coupling value of .3. Our results point to a substantial independence of the self-trapping event on dimensionality.Comment: 8 pages, 5 figure

Strategies in Rapid Genetic Diagnostics of Critically Ill Children:Experiences From a Dutch University Hospital

Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora of genetic testing techniques, without clear strategies on test ordering. Here, we review our 2-years experiences of rapid genetic testing of NICU patients in order to provide such recommendations. Methods: We retrospectively included all patients admitted to the NICU who received clinical genetic consultation and genetic testing in our University hospital. We documented reasons for referral for genetic consultation, presenting phenotypes, differential diagnoses, genetic testing requested and their outcomes, as well as the consequences of each (rapid) genetic diagnostic approach. We calculated diagnostic yield and turnaround times (TATs). Results: Of 171 included infants that received genetic consultation 140 underwent genetic testing. As a result of testing as first tier, 13/14 patients received a genetic diagnosis from QF-PCR; 14/115 from SNP-array; 12/89 from NGS testing, of whom 4/46 were diagnosed with a small gene panel and 8/43 with a large OMIM-morbid based gene panel. Subsequent secondary or tertiary analysis and/or additional testing resulted in five more diagnoses. TATs ranged from 1 day (QF-PCR) to a median of 14 for NGS and SNP-array testing, with increasing TAT in particular when many consecutive tests were performed. Incidental findings were detected in 5/140 tested patients (3.6%). Conclusion: We recommend implementing a broad NGS gene panel in combination with CNV calling as the first tier of genetic testing for NICU patients given the often unspecific phenotypes of ill infants and the high yield of this large panel

Concordant Symptomatic Intracranial Aneurysm in a Monozygotic Twin:A Case Report and Review of the Literature

The development of an intracranial aneurysm (IA) is a multifactorial process, involving genetic and environmental factors. The presence of IA or aneurysmal subarachnoid hemorrhage (aSAH) in twins is particularly interesting, since both genetic and environmental factors can be studied. It also raises the question of whether, when one twin is affected, the other asymptomatic twin should be examined for an IA. We report on a monozygotic (MZ) twin-pair with aSAH in both twins and we review all reported cases of IA in MZ twins. Including our case, we found only 14 MZ twin-pairs in which both twins harbored an IA, suggesting a heavy underreporting in the medical literature. In this small group, a high concordance was noted in the sites of IAs. In MZ twins, the preferred sites for IAs are the branching arteries, while aneurysms arising from fusion arteries are rare. These sites differ from the preferential sites seen in series of familial IAs and series of sporadic IAs. We therefore hypothesize that the twinning process might play a significant role in the development of IAs in MZ twins. To further explore and substantiate this, the large twin registries should be studied. Although IAs in MZ twins with a negative family history for IAs should not be regarded as familial IAs, screening of the asymptomatic twin should be seriously considered if one MZ twin presents with an aSAH or an IA, because of the high fatality rates reported in asymptomatic (and not screened) MZ twin-halves