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Background: Biallelic variants in POLR1C are associated with POLR3-related leukodystrophy (POLR3-HLD), or 4H leukodystrophy (Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism), and Treacher Collins syndrome (TCS). The clinical spectrum of POLR3-HLD caused by variants in this gene has not been described. Methods: A cross-sectional observational study involving 25 centers worldwide was conducted between 2016 and 2018. The clinical, radiologic and molecular features of 23 unreported and previously reported cases of POLR3-HLD caused by POLR1C variants were reviewed. Results: Most participants presented between birth and age 6 years with motor difficulties. Neurological deterioration was seen during childhood, suggesting a more severe phenotype than previously described. The dental, ocular and endocrine features often seen in POLR3-HLD were not invariably present. Five patients (22%) had a combination of hypomyelinating leukodystrophy and abnormal craniofacial development, including one individual with clear TCS features. Several cases did not exhibit all the typical radiologic characteristics of POLR3-HLD. A total of 29 different pathogenic variants in POLR1C were identified, including 13 new disease-causing variants. Conclusions: Based on the largest cohort of patients to date, these results suggest novel characteristics of POLR1C-related disorder, with a spectrum of clinical involvement characterized by hypomyelinating leukodystrophy with or without abnormal craniofacial development reminiscent of TCS.
Objectives: To adequately monitor the course of cognitive functioning in persons with moderate to severe dementia, relevant cognitive tests for the advanced dementia stages are needed. We examined the ability of a test developed for the advanced dementia stages, the Severe Impairment Battery Short version (SIB-S), to measure cognitive change over time. Second, we examined type of memory impairment measured with the SIB-S in different dementia stages. Methods: Participants were institutionalized persons with moderate to severe dementia (N = 217). The SIB-S was administered at 6-month intervals during a 2-year period. Dementia severity at baseline was classified according to Global Deterioration Scale criteria. We used mixed models to evaluate the course of SIB-S total and domain scores, and whether dementia stage at baseline affected these courses. Results: SIB-S total scores declined significantly over time, and the course of decline differed significantly between dementia stages at baseline. Persons with moderately severe dementia declined faster in mean SIB-S total scores than persons with moderate or severe dementia. Between persons with moderate and moderately severe dementia, there was only a difference in the rate of decline of semantic items, but not episodic and non-semantic items. Conclusions: Although modest floor and slight ceiling effects were noted in severe and milder cases, respectively, the SIB-S proved to be one of few available adequate measures of cognitive change in institutionalized persons with moderate to severe dementia. (JINS, 2019, 25, 204–214)
AFM-based nanoelectrical modes have numerous
applications in fields ranging from semiconductors
to biology. The data produced have traditionally
been in the form of a 2D map, generated in contact
mode, with a single electrical data point per
XY location. Electrical ramps
or spectra would be generated at a few, carefully
selected locations. This article discusses a new
approach to nanoelectrical imaging that creates an
electrical data cube and a correlated nanomechanical
data cube while operating at normal imaging speeds.
This approach avoids contact mode imaging, thus
extending electrical measurements to soft and
fragile samples and improving measurement
consistency. Moreover, this is a general approach
that is applicable to most nanoelectrical modes and
The discovery of the first electromagnetic counterpart to a gravitational wave signal has generated follow-up observations by over 50 facilities world-wide, ushering in the new era of multi-messenger astronomy. In this paper, we present follow-up observations of the gravitational wave event GW170817 and its electromagnetic counterpart SSS17a/DLT17ck (IAU label AT2017gfo) by 14 Australian telescopes and partner observatories as part of Australian-based and Australian-led research programs. We report early- to late-time multi-wavelength observations, including optical imaging and spectroscopy, mid-infrared imaging, radio imaging, and searches for fast radio bursts. Our optical spectra reveal that the transient source emission cooled from approximately 6 400 K to 2 100 K over a 7-d period and produced no significant optical emission lines. The spectral profiles, cooling rate, and photometric light curves are consistent with the expected outburst and subsequent processes of a binary neutron star merger. Star formation in the host galaxy probably ceased at least a Gyr ago, although there is evidence for a galaxy merger. Binary pulsars with short (100 Myr) decay times are therefore unlikely progenitors, but pulsars like PSR B1534+12 with its 2.7 Gyr coalescence time could produce such a merger. The displacement (~2.2 kpc) of the binary star system from the centre of the main galaxy is not unusual for stars in the host galaxy or stars originating in the merging galaxy, and therefore any constraints on the kick velocity imparted to the progenitor are poor.
A QTL (TM-QTL) identified on ovine chromosome 18 (Walling et al., 2004), which increases loin muscle depth by 4-8% in UK Texel sheep, is of interest for the sheep industry as a potential means to increase carcass value. Since the contribution of Texel genes to the UK slaughter generation is generally through use of Texel sires to produce crossbred slaughter lambs (e.g. Texel x Mule lambs), it is necessary to verify the effects of the TM-QTL on loin muscularity and other carcass traits in such crossbred progeny of Texel sires before explotiation of the TM-QTL in commercial sheep populations.
Carcass conformation has been found to be associated with fatness among carcasses of similar weight and subjectively assessed fat cover (Kempster et al., 1981), leading these authors to suggest that assessments of conformation in live animals were even more likely to be confounded with fatness. Consequently, selection for improved shape would likely be opposed to the overall objective of reduced fatness in lamb carcasses. However, conformation remains a highly valued trait among lamb producers and breeders. In principle, shape can also be related to variation in lean: bone ratio and muscularity, defined as the depth of muscle relative to the skeletal dimension. The objectives of this work were to compare a live animal assessment of the conformation of the hind leg and ultrasonic measures of muscle and fat depths as predictors of carcass composition and muscularity.
Progressive inefficacy of chemoprophylactic therapy to control gastro-intestinal (GI) nematode infection in sheep has been a major contributory factor in stimulating research into the development of alternative means of internal parasite control. This research aims to investigate the possibilities for selecting UK sheep for increased genetic resistance to naturally acquired GI nematode parasite infections.
Our understanding of the complex relationship between schizophrenia symptomatology and etiological factors can be improved by studying brain-based correlates of schizophrenia. Research showed that impairments in value processing and executive functioning, which have been associated with prefrontal brain areas [particularly the medial orbitofrontal cortex (MOFC)], are linked to negative symptoms. Here we tested the hypothesis that MOFC thickness is associated with negative symptom severity.
This study included 1985 individuals with schizophrenia from 17 research groups around the world contributing to the ENIGMA Schizophrenia Working Group. Cortical thickness values were obtained from T1-weighted structural brain scans using FreeSurfer. A meta-analysis across sites was conducted over effect sizes from a model predicting cortical thickness by negative symptom score (harmonized Scale for the Assessment of Negative Symptoms or Positive and Negative Syndrome Scale scores).
Meta-analytical results showed that left, but not right, MOFC thickness was significantly associated with negative symptom severity (βstd = −0.075; p = 0.019) after accounting for age, gender, and site. This effect remained significant (p = 0.036) in a model including overall illness severity. Covarying for duration of illness, age of onset, antipsychotic medication or handedness weakened the association of negative symptoms with left MOFC thickness. As part of a secondary analysis including 10 other prefrontal regions further associations in the left lateral orbitofrontal gyrus and pars opercularis emerged.
Using an unusually large cohort and a meta-analytical approach, our findings point towards a link between prefrontal thinning and negative symptom severity in schizophrenia. This finding provides further insight into the relationship between structural brain abnormalities and negative symptoms in schizophrenia.
Post-traumatic stress disorder (PTSD) is associated with elevated risk for metabolic syndrome (MetS). However, the direction of this association is not yet established, as most prior studies employed cross-sectional designs. The primary goal of this study was to evaluate bidirectional associations between PTSD and MetS using a longitudinal design.
A total of 1355 male and female veterans of the conflicts in Iraq and Afghanistan underwent PTSD diagnostic assessments and their biometric profiles pertaining to MetS were extracted from the electronic medical record at two time points (spanning ~2.5 years, n = 971 at time 2).
The prevalence of MetS among veterans with PTSD was just under 40% at both time points and was significantly greater than that for veterans without PTSD; the prevalence of MetS among those with PTSD was also elevated relative to age-matched population estimates. Cross-lagged panel models revealed that PTSD severity predicted subsequent increases in MetS severity (β = 0.08, p = 0.002), after controlling for initial MetS severity, but MetS did not predict later PTSD symptoms. Logistic regression results suggested that for every 10 PTSD symptoms endorsed at time 1, the odds of a subsequent MetS diagnosis increased by 56%.
Results highlight the substantial cardiometabolic concerns of young veterans with PTSD and raise the possibility that PTSD may predispose individuals to accelerated aging, in part, manifested clinically as MetS. This demonstrates the need to identify those with PTSD at greatest risk for MetS and to develop interventions that improve both conditions.
Spectra of the Be star 28 CMa obtained with the HEROS echelle spectrograph in 1996 and 1997 were used to check the presence of transient periods in commonly measured scalar parameters of absorption and emission lines. Transient periods can be convincingly detected in modes of higher absorption and single peak emission lines of the Balmer series as well as in the V/R ratio of Fell lines. Consequences for the frequency analyses of datasets containing radial velocities derived from different ions are discussed. The significant differences in amplitudes of radial velocities of different ions and in individual seasons were confirmed and a mean ephemeris derived.
TM-QTL is a quantitative trait locus (QTL) on ovine chromosome 18 (OAR18) known to affect loin muscling in Texel sheep. Previous work suggested that its mode of inheritance is consistent with paternal polar overdominance, but this has yet to be formally demonstrated. This study used purebred Texel sheep segregating for TM-QTL to confirm its presence in the chromosomal region in which it was first reported and to determine its pattern of inheritance. To do so, this study used the first available data from a Texel flock, which included homozygote TM-QTL carriers (TM/TM; n=34) in addition to homozygote non-carriers (+/+; n=40 and, heterozygote TM-QTL-carriers inheriting TM-QTL from their sire (TM/+; n=53) or their dam (+/TM; n=17). Phenotypes included a wide range of loin muscling, carcass composition and tissue distribution traits. The presence of a QTL affecting ultrasound muscle depth on OAR18 was confirmed with a paternal QTL effect ranging from +0.54 to +2.82 mm UMD (s.e. 0.37 to 0.57 mm) across the sires segregating for TM-QTL. Loin muscle width, depth and area, loin muscle volume and dissected M. longissimus lumborum weight were significantly greater for TM/+ than +/+ lambs (+2.9% to +7.9%; P<0.05). There was significant evidence that the effect of TM-QTL on the various loin muscling traits measured was paternally polar overdominant (P<0.05). In contrast, there was an additive effect of TM-QTL on both live weight at 20 weeks and carcass weight; TM/TM animals were significantly (P<0.05) heavier than +/+ (+11.1% and +7.3%, respectively) and +/TM animals (+11.9% and +11.7%, respectively), with TM/+ intermediate. Weights of the leg, saddle and shoulder region (corrected for carcass weight) were similar in the genotypic groups. There was a tendency for lambs inheriting TM-QTL from their sire to be less fat with slightly more muscle than non-carriers. For example, carcass muscle weight measured by live animal CT-scanning was 2.8% higher in TM/TM than +/+ lambs (P<0.05), carcass muscle weight measured by carcass CT-scanning was 1.36% higher in TM/+ than +/+ lambs (P<0.05), and weight of fat trimmed from the carcass cuts was significantly lower for TM/+ than +/+ lambs (−11.2%; P<0.05). No negative effects of TM-QTL on carcass traits were found. Optimal commercial use of TM-QTL within the sheep industry would require some consideration, due to the apparently different mode of action of the two main effects of TM-QTL (on growth and muscling).
Stress and cortisol administration are known to have impairing effects on memory retrieval in healthy humans. These effects are reported to be altered in patients with major depressive disorder (MDD) and post-traumatic stress disorder (PTSD) but they have not yet been investigated in borderline personality disorder (BPD).
In a placebo-controlled cross-over study, 71 women with BPD and 40 healthy controls received either placebo or 10 mg of hydrocortisone orally before undertaking a declarative memory retrieval task (word list learning) and an autobiographical memory test (AMT). A working memory test was also applied.
Overall, opposing effects of cortisol on memory were observed when comparing patients with controls. In controls, cortisol had impairing effects on memory retrieval whereas in BPD patients cortisol had enhancing effects on memory retrieval of words, autobiographical memory and working memory. These effects were most pronounced for specificity of autobiographical memory retrieval. Patients with BPD alone and those with co-morbid PTSD showed this effect. We also found that co-morbid MDD influenced the cortisol effects: in this subgroup (BPD + MDD) the effects of cortisol on memory were absent.
The present results demonstrate beneficial effects of acute cortisol elevations on hippocampal-mediated memory processes in BPD. The absence of these effects in patients with co-morbid MDD suggests that these patients differ from other BPD patients in terms of their sensitivity to glucocorticoids (GCs).
We report a novel concept for the direct integration of capacitors in printed circuit boards using ultra-small BaTiO3 and ZrO2 nanoparticles prepared by a chemical method. Electrical properties comparable to surface mount ceramic capacitors were achieved by proper processing of the nanoparticles, achieving a device-yield of >90% under research environment. The loss factor of the presented integrated capacitors does not exceed 0.05 independent of frequency, capacitor’s electrode area or applied bias voltage.
The paper illustrates the benefits of a combined use of computer simulations of interfacial properties and experiments performed on macroscopic, well-defined bicrystals. The results from two studies are reported. Relative energies of inclined Cu Σ3 grain boundaries were determined by thermal grooving experiments on diffusion-bonded Cu bicrystals. A comparison with calculated energies for crystallographically identical interfaces points to the possibility of macrofaceting of inclined grain boundaries upon annealing. Grain boundary entropy effects are discussed as another possible reason for small differences between theory and experiment. The diffusion rate of Ag* radiotracer in heterophase boundaries of diffusion-bonded Ag-Cu bicrystals can qualitatively be correlated with computed structural details of crystallographically identical Ag-Cu and Ag-Ni phase boundaries. The (computed) site-to-site variation of vacancy formation enthalpy on the (110) phase boundary leads to an anisotropy of Ag* phase boundary diffusion.
We propcoe a novel technique to convert polymer films into useful inorganic films by ion beam irradiation. Along the track of an ion the polymer is dissociated into smaller fragments. volatile fragments diffuse through the film and escape. Any element which is not removed in the form of volatile species is subsequently enriched with respect to the other elements. We demonstrate this effect in a polymer poly(dimethylsilylene-co-methylphenylsilylene), which initially has a C:Si ratio of 45:1. Upon irradiation with 2 MeV Ar+ ions at a dose of 1015 ions/cm2 the C:Si ratio changes to 3.4:1 as verified by Rutherford backscattering spectrometry. We believe that the effect of the ion beam irradiation is to produce more Si-C bonds at the expeme of the C-H and Si-Si bonds, with ≲10% of the original hydrogen being present in the film at high doses. The loss of the H atoms is further confirmed by a nuclear reaction technique. The IR spectra of the film as a function of the irradiation dose shows a progressive loss of fine molecular features with significant increase of the refractive index. The IR spectrum at the high doses appears to be due to a mixture of various Si and C bonds. However, the irradiated films are very hard and scratch resistant (knoop value ≳1300) suggesting an increase in the number of silicon carbide bonds
We have grown films of (LaSr)MnO3 (LSMO) and (LaCa)MnO3 (LCMO) using atomic layer-by-layer molecular beam epitaxy (ALL-MBE). Depending on growth conditions, substrate lattice constant and the exact cation stoichiometry, the films are either pseudomorphic or strain relaxed. The pseudomorphic films show atomically flat surfaces, with a unit cell terrace structure that is a replica of that observed on the slightly vicinal substrates, while the strain relaxed films show bumpy surfaces correlated with a dislocation network. All films show tetragonal structure and exhibit anisotropic magnetoresistance, with a low field response, (1/R)(dR/dH) as large as 5 T−1.
The AMO3 perovskites containing transition-metal atoms M have an MO3 array with M-O-M bond angles 180°-φ in which the angle φ increases with the mismatch of the A-O and M-O equilibrium bond lengths. The tight-binding bandwidths for the π-bonding t and σ-bonding e orbitals of d-orbital parentage are Wπ < Wσ. In the orthomanganites Ln1−xAxMnO3 with A an alkaline earth, the octahedral-site high-spin Mn3+ ions have a d-electron configuration t3e1:5Eg that is orbitally twofold-degenerate, and the on-site electron-electron coulomb energy for adding a fifth d electron is Uσ ≈Wσ > Wπ. Consequently the equilibrium reaction t3e1 ≈ t3 σ*1 for a first-order transition from localized-e to itinerant-σ* electrons is shifted to the left as the bandwidth Wσ ≈ 12 εσλσ2 cos φ is narrowed by increasing φ, by perturbations of the periodic potential of the MO3 array, and/or by increasing spin-disorder scattering; it is shifted to the right by oxidation of the MnO3 array, by application of a magnetic field, and by pressure. Cross-over from polaronic-e to itinerant-σ* electrons at a ferromagnetic Curie temperature Tc or a charge-ordering temperature Tco < Tc can give a “colossal” negative magnetoresistance provided the Fermi energy εF lies below a mobility edge μc in the narrow σ* band of the ferromagnetic phase. Cooperative Jahn-Teller distortions that remove the orbital degeneracy of a localized 5Eg configuration also introduce unusual antiferromagnetic ordering of the manganese-atom spins.