Whole-exome sequencing reveals sex difference in the genetic architecture of high myopia.

Background: High myopia (HM) is one of the leading causes of visual impairment and blindness worldwide. To understand the sex difference in the genetic architecture of HM, which may contribute to understanding HM aetiology and help further the realisation of precision medicine for HM.

Methods: We performed sex-stratified exome-wide association studies (ExWAS) with n (males)=7492 and n (females)=8090, along with gene- and pathway-based tests and genetic correlation analyses to clarify the variants, genes and molecular pathways that relate to HM in a sex-specific manner.

Individual surgical management of trigeminal schwannomas guided by an extended classification: a consecutive series of 96 clinical cases at a single institution.

Trigeminal schwannoma (TS) is a rare intracranial neurinoma that affects the multicompartmental skull base. In recent decades, advancements in skull-base neurosurgical techniques and endoscopic surgery have significantly improved outcomes for TS patients. In this study, we present our experience with surgical resection of TS using a further classification system.

Retention of high-pressure solution-processable metastable phase to ambience via differential sublattice rigidity for broadband photodetectors.

Materials science exploits only properties that are available at ambience. Therefore, although high-pressure changes the physical state of all condensed matter, most of the extraordinary properties discovered vanish after decompression and cannot be utilized. Here, we demonstrate sublattice decoupling in a mixed-anion chalcohalide RbReSI upon compression, in which the [RbI] framework is soft and plastic, while the [ReSI] clusters are hard and elastic.

Isolated Diffusion: Optimizing Multi-Concept Text-to-Image Generation Training-Freely with Isolated Diffusion Guidance.

Large-scale text-to-image diffusion models have achieved great success in synthesizing high-quality and diverse images given target text prompts. Despite the revolutionary image generation ability, current state-of-the-art models still struggle to deal with multi-concept generation accurately in many cases. This phenomenon is known as "concept bleeding" and displays as the unexpected overlapping or merging of various concepts.

Direct Visualization of the Impurity Occupancy Road Map in Ni-Substituted van der Waals Ferromagnet FeGaTe.

Impurity substitution is effective for studying the intrinsic properties of a quantum material. When the target element has multiple Wyckoff positions, it is challenging but essential to know the exact position and occupancy order of the impurity atoms. Via comprehensive experimental and theoretical investigations, we establish the Ni substitution road map in van der Waals ferromagnet FeGaTe.

Mesoscale orchestration of collagen-based hierarchical mineralization.

Mesoscale building blocks are instrumental in bridging multilevel hierarchical mineralization, endowing macroscale entities with remarkable functionality and mechanical properties. However, the mechanism orchestrating the homogeneous morphology of mesoscale mineralized motifs in collagen-based hard tissues remains unknown. Here, utilizing avian tendons as a mineralization model, we reveal a robust correlation between the mesoscale mineralized spherules and the presence of phosvitin.

Is t(11;14) in newly diagnosed multiple myeloma a favorable outcome in the novel agent era?

Background: t(11;14) is considered a standard risk factor in multiple myeloma (MM). However, recent studies suggested that its impact in the context of novel agents remained controversial.

Methods: This retrospective analysis examined the clinical profiles of 375 newly diagnosed patients with MM and compared the outcomes between those with t(11;14) and those with normal cytogenetics.

Survival and risk factors for metastatic colorectal cancer patients with a history of prior malignancy.

Given concerns about treatment, there is uncertainty surrounding the effect of prior malignancy on the survival of individuals with metastatic colorectal cancer. This study sought to evaluate how prior malignancy impacts the survival of patients with metastatic colorectal cancer (mCRC). Patients diagnosed with stage IV mCRC (per the American Joint Committee on Cancer [AJCC] 6th edition) between 2004 and 2015 were identified from the Surveillance, Epidemiology, and End Results (SEER) database.

Cumulative Exposure to Unconventional Natural Gas Development and the Risk of Childhood Cancer: A Registry-Based Case-Control Study.

The rapid growth of unconventional natural gas development (UNGD), also known as hydraulic fracturing, has raised concerns of potential exposures to hazardous chemicals. Few studies have examined the risk of childhood cancer from exposure to UNGD. A case-control study included 498 children diagnosed with leukemia, lymphoma, central nervous system neoplasms, and malignant bone tumors during the period 2010-2019 identified through the Pennsylvania Cancer Registry.

NUFIP1 integrates amino acid sensing and DNA damage response to maintain the intestinal homeostasis.

Nutrient availability strongly affects intestinal homeostasis. Here, we report that low-protein (LP) diets decrease amino acids levels, impair the DNA damage response (DDR), cause DNA damage and exacerbate inflammation in intestinal tissues of male mice with inflammatory bowel disease (IBD). Intriguingly, loss of nuclear fragile X mental retardation-interacting protein 1 (NUFIP1) contributes to the amino acid deficiency-induced impairment of the DDR in vivo and in vitro and induces necroptosis-related spontaneous enteritis.

Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations.

Background: High myopia (HM), characterized by a severe myopic refractive error, stands as a leading cause of visual impairment and blindness globally. HM is a multifactorial ocular disease that presents high genetic heterogeneity. Employing a genetic risk score (GRS) is useful for capturing genetic susceptibility to HM.

Giant Domain Wall Anomalous Hall Effect in a Layered Antiferromagnet EuAl_{2}Si_{2}.

Generally, the dissipationless Hall effect in solids requires time-reversal symmetry breaking (TRSB), where TRSB induced by external magnetic field results in the ordinary Hall effect, while TRSB caused by spontaneous magnetization gives rise to the anomalous Hall effect (AHE) which scales with the net magnetization. The AHE is therefore not expected in antiferromagnets with vanishing small magnetization. However, large AHE was recently observed in certain antiferromagnets with noncollinear spin structure and nonvanishing Berry curvature.

Experimental study on the mechanical properties of C30 molybdenum tailings concrete after high-temperature and sulfate corrosion.

In order to study the durability of molybdenum tailings concrete after a specific period of wet-dry cycle tests and exposure to high temperatures, this paper investigates the rule of change of the mechanical properties of molybdenum tailings concrete under the coupled influence of sulfate corrosion and high-temperature environmental conditions. A total of five C30 concrete prisms with molybdenum tailings content (0 %, 25 %, 50 %, 75 %, and 100 %) were considered in the tests, with sulfate solution concentrations of 0 g/L, 20 g/L, and 50 g/L, and exposure temperatures of 25° at room temperature and 400° at high temperature, respectively. The test results showed that the mass loss rate of concrete prisms with different molybdenum tailings substitution rates under sulfate corrosion and high temperature environment showed an increasing and then decreasing trend.

Design of Ligand-Nonbridging Sites in Metal-Organic Frameworks for Boosting Lithium Storage Capacity.

Metal-organic frameworks (MOFs) are lagging in the use of lithium-ion batteries (LIBs), ascribing to full coordination between metal nodes and organic ligands, to a large extent. By integrating a modulator into a ligand with missing bridging functionality, this study elucidates the role of non-bridging defect sites in MOFs in tailoring lithium storage performance. A fully bridged pristine MOF (p-MOF) utilizing the meso-tetra(4-carboxylphenyl) porphyrin ligand is compared with a modified MOF containing non-bridging defects (d-MOF) introduced by a homologous ligand, tris(4-carboxyphenyl) porphyrin.

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

Background: Coffin-Siris syndrome is a clinically elusive and rare genetic disease characterized by a wide range of clinical manifestations. This study deeply analyzed and identified the clinical phenotype and genetic variant location in a pediatric patient with Coffin-Siris syndrome, aiming to enhance the understanding of this syndrome and assist in its screening and diagnosis.

Methods: A combination of advanced diagnostic tools, including high-throughput whole-exome sequencing (WES) and first-generation sequencing technologies, was employed to ascertain the etiology of the disease in the child.

Experimental and numerical studies on corrosion-resistant aluminium foam sandwich panel subject to low-velocity impact.

Aluminium foam sandwich panels (AFSPs) have a high impact resistance and are suitable for a wide range of engineering applications. To improve corrosion resistance, this paper proposes an anti-corrosion sandwich panel with stainless steel as the upper sheet. Drop hammer impact tests were performed on a total of ten AFSPs to investigate their dynamic response and failure patterns.

Does primary treatment of proximal humerus fractures show favourable functional outcomes over secondary treatment with reverse shoulder arthroplasty?

Background: This multicentre retrospective cohort study assessed whether functional outcomes after primary reverse shoulder arthroplasty (RSA) are favourable compared to secondary placement in elderly patients with displaced proximal humerus fractures (PHFs).

Methods: Fifty-three patients with primary and 32 with secondary RSA were included. Patient-reported outcome measures (PROMs) were assessed: Constant-Murley Score (CMS), Oxford Shoulder Score (OSS), Disabilities of the Arm, Shoulder and Hand (DASH) score, and Visual Analogue Scale (VAS).

In Situ Encapsulation of Atomically Precise Nanoclusters in Reticular Frameworks via Mechanochemical Synthesis.

The combination of atomically precise nanoclusters (APNCs) and reticular frameworks is promising for generating component-specific nanocomposites with emergent properties. However, traditional liquid-phase synthesis often hampers this potential by damaging APNCs and limiting combination diversity. Here, mechanochemical synthesis to explore the encapsulation of diverse oil- and water-soluble APNCs within various reticular frameworks is employed, establishing a database of 21 unique APNC-framework combinations, including metal-organic frameworks (MOFs), covalent-organic frameworks (COFs), hydrogen-bonded organic frameworks (HOFs), and multivariate MOFs.

Adipocyte-derived glutathione promotes obesity-related breast cancer by regulating the SCARB2-ARF1-mTORC1 complex.

Obesity is a major risk factor for poor breast cancer outcomes, but the impact of obesity-induced tumor microenvironment (TME) metabolites on breast cancer growth and metastasis remains unclear. Here, we performed TME metabolomic analysis in high-fat diet (HFD) mouse models and found that glutathione (GSH) levels were elevated in the TME of obesity-accelerated breast cancer. The deletion of glutamate-cysteine ligase catalytic subunit (GCLC), the rate-limiting enzyme in GSH biosynthesis, in adipocytes but not tumor cells reduced obesity-related tumor progression.

Total Reflection X-ray Fluorescence Spectrometry: A Comprehensive Review of Critical Components, Analytical Benefits and Practical Applications.

Total reflection X-ray fluorescence spectrometry (TXRF) is a pivotal technique in modern atomic spectroscopy, distinguished by its capability for multi-element simultaneous determination, a wide dynamic concentration range, samples do not require acid digestion. Additionally, TXRF exhibits negligible matrix effects when samples are prepared as thin films. Based on these unique features, recent research efforts have increasingly employed laboratory-built TXRF systems for the determination of major and trace elements in various samples.