Essentials
Diagnosis of sitosterolemia, a rare recessive or syndromic disorder, is usually delayed.
Peripheral blood smear is extremely useful for establishing the suspicion of sitosterolemia.
...High‐throughput sequencing technology enables the molecular diagnosis of inherited thrombocytopenias.
Accurate characterization of sitosterolemia helps us determine appropriate management.
Summary
Background
Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PSs) usually result in xanthomas and premature coronary atherosclerosis, although hematologic abnormalities may occasionally be present. This clinical picture is unfamiliar to many physicians, and patients may be at high risk of misdiagnosis.
Objectives
To report two novel ABCG5 variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL.
Patient/Methods
A 46‐year‐old female was referred to us with lifelong macrothrombocytopenia. She showed familial hypercholesterolemia‐related xanthomas. Molecular analysis was performed with high‐throughput sequencing. Plasma PS levels were evaluated with gas–liquid chromatography. The STSL landscape was reviewed with respect to specific online databases and all reports published since 1974.
Results
A blood smear revealed giant platelets and stomatocytes. Novel compound heterozygous variants were detected in exons 7 (c.914C>G) and 13 (c.1890delT) of ABCG5. The patient showed an increased plasma level of sitosterol. These findings support the diagnosis of STSL. In our review, we identified only 25 unrelated STLS patients who presented with hematologic abnormalities including macrothrombocytopenia. It remains unknown why only some patients develop hematologic abnormalities.
Conclusions
This is the first Spanish STSL patient to be reported and molecularly characterized. The early diagnosis of STLS is strongly supported by the presence of stomatocytes in blood smears. The definitive diagnosis of STSL by measurement of serum PS levels and molecular analyses prompted the use of ezetimibe therapy.
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FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
The modification of star formation (SF) in galaxy interactions is a complex process, with SF observed to be both enhanced in major mergers and suppressed in minor pair interactions. Such changes ...likely to arise on short time-scales and be directly related to the galaxy–galaxy interaction time. Here we investigate the link between dynamical phase and direct measures of SF on different time-scales for pair galaxies, targeting numerous star- formation rate (SFR) indicators and comparing to pair separation, individual galaxy mass and pair mass ratio. We split our sample into the higher (primary) and lower (secondary) mass galaxies in each pair and find that SF is indeed enhanced in all primary galaxies but suppressed in secondaries of minor mergers. We find that changes in SF of primaries are consistent in both major and minor mergers, suggesting that SF in the more massive galaxy is agnostic to pair mass ratio. We also find that SF is enhanced/suppressed more strongly for short-duration SFR indicators (e.g. Hα), highlighting recent changes to SF in these galaxies, which are likely to be induced by the interaction. We propose a scenario where the lower mass galaxy has its SF suppressed by gas heating or stripping, while the higher mass galaxy has its SF enhanced, potentially by tidal gas turbulence and shocks. This is consistent with the seemingly contradictory observations for both SF suppression and enhancement in close pairs.
We use deep integral field spectroscopy data from the CALIFA survey to study the warm interstellar medium (wim) over the entire extent and optical spectral range of 32 nearby early-type galaxies ...(ETGs). We find that faint nebular emission is extended in all cases, and its surface brightness decreases roughly as ∝ r−α. The large standard deviation in the derived α (1.09 ± 0.67) argues against a universal power-law index for the radial drop-off of nebular emission in ETGs. Judging from the properties of their extranuclear component, our sample ETGs span a broad, continuous sequence with respect to their α, Hα equivalent width (EW) and Lyman continuum (Lyc) photon leakage fraction (plf). We propose a tentative subdivision into two groups: Type i ETGs are characterized by rather steep Hα profiles (α ≃ 1.4), comparatively large (≳1 Å), nearly radially constant EWs, and plf ≃ 0. Photoionization by post-AGB stars appears to be the main driver of extended nebular emission in these systems, with nonthermal sources being potentially important only in their nuclei. Typical properties of type ii ETGs are shallower Hα profiles (α ≃ 0.8), very low (≲0.5 Å) EWs with positive radial gradients, and a mean plf ≳ 0.7, rising to ≳0.9 in their centers. Such properties point to a low, and inwardly decreasing wim density and/or volume filling factor. We argue that, because of extensive Lyc photon leakage, emission-line luminosities and EWs are reduced in type ii ETG nuclei by at least one order of magnitude. Consequently, the line weakness of these ETGs is by itself no compelling evidence for their containing merely “weak”(sub-Eddington accreting) active galactic nuclei (AGN). In fact, Lyc photon escape, which has heretofore not been considered, may constitute a key element in understanding why many ETGs with prominent signatures of AGN activity in radio continuum and/or X-ray wavelengths show only faint emission lines and weak signatures of AGN activity in their optical spectra. The Lyc photon escape, in conjunction with dilution of nuclear EWs by line-of-sight integration through a triaxial stellar host, can systematically impede detection of AGN in gas-poor galaxy spheroids through optical emission-line spectroscopy, thereby leading to an observational bias. We further find that type i&ii ETGs differ little (≲0.4 dex) in their mean BPT line ratios, which in both cases are characteristic of LINERs and are, within their uncertainties, almost radius-independent. This potentially hints at a degeneracy of the projected, luminosity-weighted BPT ratios in the LINER regime, for the specific 3D properties of the wim and the ionizing photon field in ETGs.
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FMFMET, NUK, UL, UM, UPUK
Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) allows a fast and reliable bacterial identification from culture plates. Direct analysis of clinical ...samples may increase its usefulness in samples in which a fast identification of microorganisms can guide empirical treatment, such as blood cultures (BC). Three hundred and thirty BC, reported as positive by the automated BC incubation device, were processed by conventional methods for BC processing, and by a fast method based on direct MALDI-TOF MS. Three hundred and eighteen of them yield growth on culture plates, and 12 were false positive. The MALDI-TOF MS-based method reported that no peaks were found, or the absence of a reliable identification profile, in all these false positive BC. No mixed cultures were found. Among these 318 BC, we isolated 61 Gram-negatives (GN), 239 Gram-positives (GP) and 18 fungi. Microorganism identifications in GN were coincident with conventional identification, at the species level, in 83.3% of BC and, at the genus level, in 96.6%. In GP, identifications were coincident with conventional identification in 31.8% of BC at the species level, and in 64.8% at the genus level. Fungaemia was not reliably detected by MALDI-TOF. In 18 BC positive for Candida species (eight C. albicans, nine C. parapsilosis and one C. tropicalis), no microorganisms were identified at the species level, and only one (5.6%) was detected at the genus level. The results of the present study show that this fast, MALDI-TOF MS-based method allows bacterial identification directly from presumptively positive BC in a short time (<30 min), with a high accuracy, especially when GN bacteria are involved.
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BFBNIB, DOBA, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, UILJ, UKNU, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Through combined ferromagnetic resonance, spin pumping, and inverse spin Hall effect experiments in Co|Pt bilayers and Co|Cu|Pt trilayers, we demonstrate consistent values of ℓsfPt=3.4±0.4 nm and ...θSHEPt=0.056±0.010 for the respective spin diffusion length and spin Hall angle for Pt. Our data and model emphasize the partial depolarization of the spin current at each interface due to spin-memory loss. Our model reconciles the previously published spin Hall angle values and explains the different scaling lengths for the ferromagnetic damping and the spin Hall effect induced voltage.
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CMK, CTK, FMFMET, IJS, NUK, PNG, UM
Implementation of wildfire- and climate-adaptation strategies in seasonally dry forests of western North America is impeded by numerous constraints and uncertainties. After more than a century of ...resource and land use change, some question the need for proactive management, particularly given novel social, ecological, and climatic conditions. To address this question, we first provide a framework for assessing changes in landscape conditions and fire regimes. Using this framework, we then evaluate evidence of change in contemporary conditions relative to those maintained by active fire regimes, i.e., those uninterrupted by a century or more of human-induced fire exclusion. The cumulative results of more than a century of research document a persistent and substantial fire deficit and widespread alterations to ecological structures and functions. These changes are not necessarily apparent at all spatial scales or in all dimensions of fire regimes and forest and nonforest conditions. Nonetheless, loss of the once abundant influence of low- and moderate-severity fires suggests that even the least fire-prone ecosystems may be affected by alteration of the surrounding landscape and, consequently, ecosystem functions. Vegetation spatial patterns in fire-excluded forested landscapes no longer reflect the heterogeneity maintained by interacting fires of active fire regimes. Live and dead vegetation (surface and canopy fuels) is generally more abundant and continuous than before European colonization. As a result, current conditions are more vulnerable to the direct and indirect effects of seasonal and episodic increases in drought and fire, especially under a rapidly warming climate. Long-term fire exclusion and contemporaneous social-ecological influences continue to extensively modify seasonally dry forested landscapes. Management that realigns or adapts fire-excluded conditions to seasonal and episodic increases in drought and fire can moderate ecosystem transitions as forests and human communities adapt to changing climatic and disturbance regimes. As adaptation strategies are developed, evaluated, and implemented, objective scientific evaluation of ongoing research and monitoring can aid differentiation of warranted and unwarranted uncertainties.
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BFBNIB, FZAB, GIS, IJS, INZLJ, KILJ, NLZOH, NMLJ, NUK, OILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK, ZRSKP
The spin-orbit interaction couples the electrons' motion to their spin. As a result, a charge current running through a material with strong spin-orbit coupling generates a transverse spin current ...(spin Hall effect, SHE) and vice versa (inverse spin Hall effect, ISHE). The emergence of SHE and ISHE as charge-to-spin interconversion mechanisms offers a variety of novel spintronic functionalities and devices, some of which do not require any ferromagnetic material. However, the interconversion efficiency of SHE and ISHE (spin Hall angle) is a bulk property that rarely exceeds ten percent, and does not take advantage of interfacial and low-dimensional effects otherwise ubiquitous in spintronic hetero- and mesostructures. Here, we make use of an interface-driven spin-orbit coupling mechanism-the Rashba effect-in the oxide two-dimensional electron system (2DES) LaAlO
/SrTiO
to achieve spin-to-charge conversion with unprecedented efficiency. Through spin pumping, we inject a spin current from a NiFe film into the oxide 2DES and detect the resulting charge current, which can be strongly modulated by a gate voltage. We discuss the amplitude of the effect and its gate dependence on the basis of the electronic structure of the 2DES and highlight the importance of a long scattering time to achieve efficient spin-to-charge interconversion.
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IJS, KISLJ, NUK, SBMB, UL, UM, UPUK
We present the PMAS/PPak Integral-field Supernova hosts COmpilation (PISCO), which comprises integral field spectroscopy (IFS) of 232 supernova (SN) host galaxies that hosted 272 SNe, observed over ...several semesters with the 3.5 m telescope at the Calar Alto Observatory (CAHA). PISCO is the largest collection of SN host galaxies observed with wide-field IFS, totaling 466,347 individual spectra covering a typical spatial resolution of ∼380 pc. Focused studies regarding specific SN Ia-related topics will be published elsewhere; this paper aims to present the properties of the SN environments, using stellar population (SP) synthesis, and the gas-phase interstellar medium, providing additional results separating stripped-envelope SNe into their subtypes. With 11,270 H ii regions detected in all galaxies, we present for the first time a statistical analysis of H ii regions, which puts H ii regions that have hosted SNe in context with all other star-forming clumps within their galaxies. SNe Ic are associated with environments that are more metal-rich and have higher EW(H ) and higher star formation rate within their host galaxies than the mean of all H ii regions detected within each host. This in contrast to SNe IIb, which occur in environments that are very different compared to other core-collapse SNe types. We find two clear components of young and old SPs at SNe IIn locations. We find that SNe II fast decliners tend to explode at locations where the SFR is more intense. Finally, we outline how a future dedicated IFS survey of galaxies in parallel to an untargeted SN search would overcome the biases in current environmental studies.
We use a highly complete subset of the Galaxy And Mass Assembly II (GAMA-II) redshift sample to fully describe the stellar mass dependence of close pairs and mergers between 108 and 1012 M⊙. Using ...the analytic form of this fit we investigate the total stellar mass accreting on to more massive galaxies across all mass ratios. Depending on how conservatively we select our robust merging systems, the fraction of mass merging on to more massive companions is 2.0–5.6 per cent. Using the GAMA-II data we see no significant evidence for a change in the close pair fraction between redshift z = 0.05 and 0.2. However, we find a systematically higher fraction of galaxies in similar mass close pairs compared to published results over a similar redshift baseline. Using a compendium of data and the function γ
M
= A(1 + z)
m
to predict the major close pair fraction, we find fitting parameters of A = 0.021 ± 0.001 and m = 1.53 ± 0.08, which represents a higher low-redshift normalization and shallower power-law slope than recent literature values. We find that the relative importance of in situ star formation versus galaxy merging is inversely correlated, with star formation dominating the addition of stellar material below
$\mathcal {M}^*$
and merger accretion events dominating beyond
$\mathcal {M}^*$
. We find mergers have a measurable impact on the whole extent of the galaxy stellar mass function (GSMF), manifest as a deepening of the ‘dip’ in the GSMF over the next ∼Gyr and an increase in
$\mathcal {M}^*$
by as much as 0.01–0.05 dex.
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