Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite ...differentiation. While Wnt/ß-catenin signaling has been implicated in somite development, the function of Wnt/planar cell polarity (Wnt/PCP) signaling in this process remains unclear. Here, we investigated the role of
and
in vertebral development and found that their deletion causes vertebral anomalies resembling human CVMs. Analysis of exome sequencing data from multiethnic CS patients revealed a number of rare and deleterious variants in
and
, many of which exhibited loss-of-function and dominant-negative effects. Zebrafish models confirmed the pathogenicity of these variants. Furthermore, we found that
knock-in (p.R258H) mice exhibited vertebral malformations in a
gene dose- and environment-dependent manner. Our findings highlight critical roles for PCP signaling in vertebral development and predisposition to CVMs in CS patients, providing insights into the molecular mechanisms underlying this disorder.
Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies, triggered by both environmental and genetic factors. The strongest genetic signal for AMD with odds ...ratios of up to 2.8 per adverse allele was found previously over a chromosomal region in 10q26 harboring two genes, ARMS2 and HTRA1, although with little knowledge as to which gene or genetic variation is functionally relevant to AMD pathology. In this study, we analyzed rare recombinant haplotypes in 16,144 AMD cases and 17,832 controls from the International AMD Genomics Consortium and identified variants in ARMS2 but not HTRA1 to exclusively carry the AMD risk with P-values between 1.0 × 10
and 6.7 × 10
This now allows prioritization of the gene of interest for subsequent functional studies.
A first gamma-ray study of 47,49Cl spectroscopy was performed at the Radioactive Isotope Beam Factory with 50Ar projectiles at 217 MeV/nucleon, impinging on the liquid hydrogen target of the MINOS ...device. Prompt de-excitation gamma-rays were measured with the NaI(Tl) array DALI2+. Through the one-proton knockout reaction 50Ar(p,2p), a spin assignment could be determined for the low-lying states of 49Cl from the momentum distribution obtained with the SAMURAI spectrometer. A spin-parity J = 3/2+ is deduced for the ground state of 49Cl, similar to the recently studied N = 32 isotope 51K.
With the scaling of technology and the need for higher performance and more functionality, power dissipation is becoming a major bottleneck for microprocessor designs. Pipeline balancing (PLB), a ...previous technique, is essentially a methodology to clock-gate unused components whenever a program's instruction-level parallelism is predicted to be low. However, no nonpredictive methodologies are available in the literature for efficient clock gating. This paper introduces deterministic clock gating (DCG) based on the key observation that for many of the stages in a modern pipeline, a circuit block's usage in a specific cycle in the near future is deterministically known a few cycles ahead of time. Our experiments show an average of 19.9% reduction in processor power with virtually no performance loss for an 8-issue, out-of-order superscalar processor by applying DCG to execution units, pipeline latches, D-Cache wordline decoders, and result bus drivers. In contrast, PLB achieves 9.9% average power savings at 2.9% performance loss.
In this work, we constrain the matter density Ωm and the amplitude of density fluctuations σ8 within the ΛCDM cosmological model with shear peak statistics and angular convergence power spectra using ...mass maps constructed from the first three years of data of the Dark Energy Survey (DES Y3). We use tomographic shear peak statistics, including cross-peaks: peak counts calculated on maps created by taking a harmonic space product of the convergence of two tomographic redshift bins. Our analysis follows a forward-modelling scheme to create a likelihood of these statistics using N-body simulations, using a Gaussian process emulator. We take into account the uncertainty from the remaining, largely unconstrained ΛCDM parameters (Ωb, ns and h). We include the following lensing systematics: multiplicative shear bias, photometric redshift uncertainty, and galaxy intrinsic alignment. Stringent scale cuts are applied to avoid biases from unmodelled baryonic physics. We find that the additional non-Gaussian information leads to a tightening of the constraints on the structure growth parameter yielding $S_8~\equiv ~\sigma _8\sqrt{\Omega _{\mathrm{m}}/0.3}~=~0.797_{-0.013}^{+0.015}$ (68 per cent confidence limits), with a precision of 1.8 per cent, an improvement of 38 per cent compared to the angular power spectra only case. The results obtained with the angular power spectra and peak counts are found to be in agreement with each other and no significant difference in S8 is recorded. We find a mild tension of 1.5σ between our study and the results from Planck 2018, with our analysis yielding a lower S8. Furthermore, we observe that the combination of angular power spectra and tomographic peak counts breaks the degeneracy between galaxy intrinsic alignment AIA and S8, improving cosmological constraints. We run a suite of tests concluding that our results are robust and consistent with the results from other studies using DES Y3 data.
A quantitative scanning electron microscope study of coccolithophores was sampled during the summer and winter from the surface waters over the continental shelf of the East China Sea (ECS) was ...conducted. In all, only ten coccolithophorid taxa were observed during the investigation periods. Emiliania huxleyi (Lohmann) Hay et Mohler and Gephyrocapsa oceanica Kamptner were predominant among the coccolithophorid flora during both seasons. E. huxleyi increased its relative abundance seaward, while G. oceanica concentrated in inner shelf area. These two species accounted for over half of the coccolithophores in the middle shelf of the ECS. These dominant taxa are eurythermal, occurring in patchy and "bull"s-eyes" distributions in both the summer and winter, respectively. Special emphasis has been paid to the overall distribution and intra-species frequency of malformed cells of the two dominant species, as well as other minor species. Malformed cells occurred so frequently in both seasons that the frequency amounted to as much as 80% in both dominant species. The malformation was manifested largely by corroded defects. A comparison of the malformed distribution with the hydrological and nutrient parameters suggests that the malformation was caused mainly by a deficiency of nitrate in the ambient waters.
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BFBNIB, NMLJ, NUK, PNG, SAZU, UL, UM, UPUK
The possible association between the risk of death from sudden infant death syndrome (SIDS) and the levels of magnesium in drinking water from municipal supplies was investigated in a matched ...case-control study in Taiwan. Characteristics for all SIDS deaths (501 cases) among Taiwan residents from 1988 through 1997 were compared with those of people who died from other causes (501 controls). The levels of magnesium in the drinking water of these residents were determined from data obtained from the Taiwan Water Supply Corporation (TWSC). The controls were pair-matched to the SIDS cases by sex, month and year of birth. The results of our study show that there is a significant trend towards a decreased risk of SIDS with increasing magnesium levels in drinking water.
Breast cancer is the most common cancer in women. Among the survivors, depression is one of the most common psychiatric comorbidities. This paper reports the point prevalence of major depressive ...disorder among breast cancer patients and the association between family support and major depressive disorder.
Clinical data were collected from a breast cancer clinic of a general hospital in central Taiwan. Participants included 300 patients who were older than 18 years and diagnosed with breast cancer. Among these individuals, we used Mini International Neuropsychiatric Interview (a structural diagnostic tool for psychiatric disorders) to ascertain if they had major depressive disorder. We also used the Family Adaptability, Partnership, Growth, Affection, and Resolve score to assess the family support.
The point prevalence of major depressive disorder among breast cancer patients was 8.33%, and this was positively associated with insomnia, psychiatric family history, pain severity, and radiotherapy and negatively associated with menopause, cancer duration, hormone therapy, and family support. Family support (adjusted odds ratio =0.87, 95% CI: 0.78-0.98) was found to be an associated factor for major depressive disorder in breast cancer patients after controlling for potential risk factors.
Major depressive disorder is a common comorbidity among breast cancer patients. Family support is an important associated factor for these patients. Health care professionals should evaluate mood problems and family support while treating these patients.
To examine the effect of noise exposure during pregnancy on infant birth weight, a well-characterized cohort of 200 pregnant women in the first trimester participating in prenatal care clinics was ...followed thoroughout gestation (in Taiwan, 1991). Individual 24-hour noise exposure of all women was prospectively measured, and information regarding possible noise exposure from traffic and occupation was also obtained. Noise exposure during pregnancy was correlated with the birth weights of the women's babies. No association between personal noise exposure measured in decibels (less than 85 dBALeq during pregnancy) and birth weight was found. Possible occupational noise exposure (indicated by working in a manual job), traffic noise exposure (indicated by distance between the home and main streets), and a history of listening to amplified music and using personal listening devices during pregnancy also showed no effect on infant birth weight. Maternal weight, maternal weight gained during pregnancy, gestational age, and infant's sex were the four factors that correlated significantly with birth weight. The noise exposure experienced by women during pregnancy may not be great enough to affect their infants' birth weight.Am J Epidemiol 1996; 143: 792–6.
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