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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
Frequency-dependence and magnitude of second harmonic generation (SHG) from ~4 × 105 nm2 molybdenum disulfide (MoS2) monolayers was examined in presence of single 150 nm plasmonic gold@silica shell@core nanoantenna monomer and dimers. Quantitative agreement between discrete dipole approximation-calculated fields and measured SHG enhancements was found. SHG from MoS2 was enhanced up to 1.88 × upon deposition of a plasmonic nanoantenna-dimer with 170 nm gap, reaching maximal normalized SHG conversion efficiency of 0.0250%/W. Pump losses attributable to plasmonic damping, e.g., scattering and/or hot-electron injection into MoS2, were apparent. Linear and nonlinear optical activity of MoS2 and nanoantenna controls were compared with literature values.
The U.S. livestock industry is increasingly faced with pressure to adjust practices in response to societal concerns—specifically related to farm animal welfare. Using best-worst scaling, we determine which practices the U.S. public and cow-calf producers view as the most effective and most practical practices to improve beef cattle welfare. Latent class models are used to understand heterogeneity within and across the public and producers. Fresh, clean feed and water was viewed by most groups as both effective and practical. Furthermore, castrate with pain control and dehorn with pain control were seen as the least effective and practical practices.
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.
Approximately 375 classification spectra of 130 Southern Hemisphere eclipsing binary stars were obtained between 1978 and 1982 at Mt. John University Observatory, New Zealand using the 0.6 meter reflector, and at Cerro Tololo Inter-American Observatory, Chile using the 0.4, 0.6, 0.9, and 1.0 meter telescopes. The spectra have been classified by one of us (GWW) using a grid of standards obtained on the various spectrographs at each of the observatories. Since many of the spectra were taken during primary and secondary minima, it has been possible in many cases to classify separately each component in the binaries.
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.
Data from the in-school sample of the PROSPER preventive intervention dissemination trial were used to investigate associations between alcohol dehydrogenase genes and alcohol use across adolescence, and whether substance misuse interventions in the 6th and 7th grades (targeting parenting, family functioning, social norms, youth decision making, and peer group affiliations) modified associations between these genes and adolescent use. Primary analyses were run on a sample of 1,885 individuals and included three steps. First, we estimated unconditional growth curve models with separate slopes for alcohol use from 6th to 9th grade and from 9th to 12th grade, as well as the intercept at Grade 9. Second, we used intervention condition and three alcohol dehydrogenase genes, 1B (ADH1B), 1C (ADH1C), and 4 (ADH4) to predict variance in slopes and intercept. Third, we examined whether genetic influences on model slopes and intercepts were moderated by intervention condition. The results indicated that the increase in alcohol use was greater in early adolescence than in middle adolescence; two of the genes, ADH1B and ADH1C, significantly predicted early adolescent slope and Grade 9 intercept, and associations between ADH1C and both early adolescent slope and intercept were significantly different across control and intervention conditions.
M-dwarf stars are more abundant than G-dwarf stars, so our position as observers on a planet orbiting a G-dwarf raises questions about the suitability of other stellar types for supporting life. If we consider ourselves as typical, in the anthropic sense that our environment is probably a typical one for conscious observers, then we are led to the conclusion that planets orbiting in the habitable zone of G-dwarf stars should be the best place for conscious life to develop. But such a conclusion neglects the possibility that K-dwarfs or M-dwarfs could provide more numerous sites for life to develop, both now and in the future. In this paper we analyse this problem through Bayesian inference to demonstrate that our occurrence around a G-dwarf might be a slight statistical anomaly, but only the sort of chance event that we expect to occur regularly. Even if M-dwarfs provide more numerous habitable planets today and in the future, we still expect mid G- to early K-dwarfs stars to be the most likely place for observers like ourselves. This suggests that observers with similar cognitive capabilities as us are most likely to be found at the present time and place, rather than in the future or around much smaller stars.
Capacity development is a critical component of water diplomacy, navigating the complexities of transboundary water conflicts. Performed at the institutional and personal levels, capacity development can include initiatives to improve the practitioner's technical capabilities in water resources management, understanding of international water law, interpersonal communications and dispute resolution. One example of capacity development that interweaves society, institutional and individual capacities is the effective use of methods of public participation, by which communities that are impacted by transboundary water policy become critical voices in the decision- making processes. In this chapter we discuss the individual, institutional and societal levels of capacity development and their basin- wide implications for improved outcomes in water diplomacy.
Anything else you're interested in is not going to happen if you can't breathe the air and drink the water. Don't sit this one out. Do something.
Water management is conflict management. There is no such thing as managing water for a single purpose because all water management is multi- objective and based on navigating competing interests. These interests include domestic users, agriculturists and environmentalists— any two of which are regularly at odds— and the chances of finding mutually acceptable solutions drop exponentially as more stakeholders are involved. Add international boundaries and the chances decrease exponentially yet again. (MacQuarrie et al. 2008, 176) Within each international basin, demands from environmental, domestic and economic users increases annually, while the amount of freshwater in the world remains roughly the same, as it has been throughout history. Given the scope of the problems and the resources available to address them, avoiding water conflict is vital. In international waters, the promising trend reveals a record of acute conflict over international water resources overwhelmed by a record of cooperation. Despite the tensions inherent in the international setting, riparians have shown tremendous creativity in approaching regional development, often through preventive diplomacy, and the creation of “baskets of benefits,” which allow for positive- sum, integrative allocations of joint gains (MacQuarrie et al. 2008, 177). It is in preventive diplomacy and cultivating the creativity to develop baskets of benefits where capacity building becomes an invaluable tool for improved water diplomacy.
This article presents a set of Late Pleistocene marine mollusk radiocarbon (AMS) age estimates of 30–50 14C kyr BP, whereas a MIS5 age (>75 ka) is indicated by quartz and feldspar OSL dating, biostratigraphy, U-Th dating, and age-depth relationships with sea level. These results indicate that the 14C dates represent minimum ages. The age discrepancy suggests that the shells are contaminated by younger carbon following shell death. The enigmatic 14C dates cannot be “solved” by removing part of the shell by stepwise dissolution. SEM analysis of the Late Pleistocene shells within a context of geologically younger (recent/modern, Holocene) and older (Pliocene) shells shows the presence of considerable amounts of an intracrystalline secondary carbonate precipitate. The presence of this precipitate is not visible using XRD since it is of the same (aragonitic) polymorph as the original shell carbonate. The combination of nanospherulitic-shaped carbonate crystals, typical cavities, and the presence of fatty acids leads to the conclusion that the secondary carbonate, and hence the addition of younger carbon, has a bacterial origin. As shell material was studied, this study recommends an assessment of possible bacterial imprints in other materials like bone collagen as well.
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.