Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.

Emotional and visual responses to trypophobic images with object, animal, or human body backgrounds: an eye-tracking study.

Background: Trypophobia refers to the visual discomfort (e.g., disgust or anxiety) experienced by some people when viewing clusters of bumps or holes.

Recent developments, challenges, and prospects of dietary omega-3 PUFA-fortified foods: Focusing on their effects on cardiovascular diseases.

Dietary omega-3 polyunsaturated fatty acids (Dω-3 PUFAs) have been extensively studied and have been proven to offer notable benefits for heart health. Scientific meta-analysis strongly endorses them as potent bioactive agents capable of preventing and managing cardiovascular diseases (CVDs). Fortification of foods with Dω-3 PUFAs is a potential strategy for enhancing Dω-3 PUFA intake in an effort to continue strengthening public health outcomes.

Diffusion Tensor Imaging Analysis Along the Perivascular Space (DTI-ALPS) Demonstrates That Sleep Disorders Exacerbate Glymphatic Circulatory Impairment and Cognitive Impairment in Patients with Alzheimer's Disease.

Objective: Sleep disorders are common in Alzheimer's disease (AD) patients and can impair the glymphatic system, leading to cognitive decline. This study aimed to investigate whether AD patients with sleep disorders exhibit worse glymphatic function and more severe cognitive impairment compared to those without sleep disorders and to explore the underlying molecular imaging mechanisms.

Methods: This study included 40 AD patients with sleep disorders (ADSD), 39 cognitively matched AD patients without sleep disorders (ADNSD), and 25 healthy middle-aged and elderly controls (NC).

The use of hydrogel microspheres as cell and drug delivery carriers for bone, cartilage, and soft tissue regeneration.

Bone, cartilage, and soft tissue regeneration is a complex process involving many cellular activities across various cell types. Autografts remain the "gold standard" for the regeneration of these tissues. However, the use of autografts is associated with many disadvantages, including donor scarcity, the requirement of multiple surgeries, and the risk of infection.

Ginsenoside Ro improves Salmonella Typhimurium-induced colitis through inhibition of the virulence factors SopB and SopE2 via the RAC1/CDC42/ARP2/3 pathway.

Salmonella enterica serovar Typhimurium (S. Typhimurium) poses a serious threat to human and animal health, and there is an urgent need to develop new therapeutic agents. In our in vivo study, ginsenoside Ro (Ro) reduced the mortality rate of S.

Identification and characterization of soybean phytochrome-interacting factors and their potential roles in abiotic stress.

Phytochrome-interacting factors (PIFs) belong to a subfamily of the bHLH transcription factor family and play a pivotal role in plant light signal transduction, hormone signal pathways, and the modulation of plant responses to various abiotic stresses. The soybean (Glycine max) is a significant food crop, providing essential oil and nutrients. Additionally, it is a vital industrial raw material and a lucrative cash crop.

[Analysis of fungal infections of external auditory canal and its risk factors in patients with chronic otitis media].

The objective of this study is to analyze the detection rate, the pathogenic fungus distribution, risk factors and drug sensitivity of fungal infection of external auditory canal in patients diagnosed with chronic otitis media. The data of a total of 419 patients with chronic suppurative otitis media or middle ear cholesteatoma who were admitted from January 2019 to February 2023 were retrospectively analyzed. A total of 419 patients were included, and 71 patients（16.

Potential drug interaction after withdrawal of nirmatrelvir-ritonavir in hospitalized patients with COVID-19 infection.

Background: Nirmatrelvir-ritonavir is effective in the treatment of SARS-CoV-2 infection. It can cause drug‒drug interactions (DDIs), even several days after withdrawal, due to irreversible inhibition of the cytochrome enzyme.

Methods: Hospitalized patients diagnosed with COVID-19 infection and treated with nirmatrelvir-ritonavir were retrospectively included according to preset criteria.

Multi-stain deep learning prediction model of treatment response in lupus nephritis based on renal histopathology.

The response of the kidney after induction treatment is one of the determinants of prognosis in lupus nephritis, but effective predictive tools are lacking. Here, we sought to apply deep learning approaches on kidney biopsies for treatment response prediction in lupus nephritis. Patients who received cyclophosphamide or mycophenolate mofetil as induction treatment were included and the primary outcome was 12-month treatment response, complete response defined as 24h urinary protein under 0.

Challenges faced by international nursing students undertaking graduate research: Contemporary issues.

Globalisation has resulted in universities around the world accepting an increasing number of culturally and linguistically diverse students, which facilitates the exchange of knowledge, strengthens cultural awareness and develops a globally adaptive nursing workforce. Graduate research students play an important role in Australian universities' education and research efforts. However, there are limited student perspectives and voices that explore the challenges and barriers faced by international nursing students undertaking graduate research.

The transcription factor YbdO attenuates the pathogenicity of avian pathogenic Escherichia coli by regulating oxidative stress response.

Avian pathogenic Escherichia coli (APEC) is a significant pathogen infecting poultry that is responsible for high mortality, morbidity and severe economic losses to the poultry industry globally, posing a substantial risk to the health of poultry. APEC encounters reactive oxygen species (ROS) during the infection process and thus has evolved antioxidant defense mechanisms to protect against oxidative damage. The imbalance of ROS production and antioxidant defenses is known as oxidative stress, which results in oxidative damage to proteins, lipids and DNA, and even bacterial cell death.

Early neurological deterioration in acute ischemic minor stroke patients with large vessel occlusion following intravenous thrombolysis.

Objective: Early identification of risk factors associated with early neurological deterioration (END) in patients with acute minor stroke and large vessel occlusion (LVO) receiving intravenous thrombolysis (IVT) could assist in formulating treatment decisions.

Methods: Consecutive patients with acute minor stroke and LVO were extracted from a single-center prospective database spanning January 2020 to December 2023. END was defined as an increase of ≥ 4 points in the National Institutes of Health Stroke Scale (NIHSS) score from baseline, or ≥ 2 points in any single NIHSS item, within 24 hours of the IVT.

Dexmedetomidine therapy promotes cardiac dysfunction and increases mortality in sepsis: A translational study.

Previous studies demonstrated that dexmedetomidine (Dex) posttreatment aggravated myocardial dysfunction and reduced survival in septic mice. Yet, whether Dex elicits similar effects in septic patients as defined by Sepsis-3 remains unknown. This study sought to assess the effects of Dex-based sedation on mortality and cardiac dysfunction in septic patients defined by Sepsis-3 and to further reveal the mechanisms in septic rats.

Genome-wide identification, phylogeny, evolutionary expansion, and expression analyses of ABC gene family in Castanea mollissima under temperature stress.

The ATP-binding cassette (ABC) gene family comprises some of the most critical transporter proteins in plants, playing vital roles in maintaining cellular homeostasis and adapting to environmental changes. While ABC transporters have been extensively characterized in various plant species, their profile in C. mollissima remains less understood.

Discovery of an Efficacious RET PROTAC Degrader with Enhanced Antiproliferative Activity against Resistant Cancer Cells Harboring RET Solvent-Front Mutations.

Rearranged during transfection (RET) kinase is a validated therapeutic target for various cancers characterized by RET alterations. Although two selective RET inhibitors, selpercatinib and pralsetinib, have been approved by the FDA, acquired resistance through solvent-front mutations has been identified rapidly. Developing proteolysis targeting chimera (PROTAC) targeting RET mutations offers a promising strategy to combat drug resistance.

Acoustic Exaggeration Enhances Speech Discrimination in Young Autistic Children.

Child-directed speech (CDS), which amplifies acoustic and social features of speech during interactions with young children, promotes typical phonetic and language development. In autism, both behavioral and brain data indicate reduced sensitivity to human speech, which predicts absent, decreased, or atypical benefits of exaggerated speech signals such as CDS. This study investigates the impact of exaggerated fundamental frequency (F0) and voice-onset time on the neural processing of speech sounds in 22 Chinese-speaking autistic children aged 2-7 years old with a history of speech delays, compared with 25 typically developing (TD) peers.

Self-monitoring of blood pressure following a stroke or transient ischaemic attack (TASMIN5S): a randomised controlled trial.

Background: Blood pressure (BP) control following stroke is important but currently sub-optimal. This trial aimed to determine whether self-monitoring of hypertension with telemonitoring and a treatment escalation protocol, results in lower BP than usual care in people with previous stroke or transient ischaemic attack (TIA).

Methods: Unblinded randomised controlled trial, comparing a BP telemonitoring-based intervention with control (usual care) for hypertension management in 12 primary care practices in England.

Dissolved oxygen depletion in Chinese coastal waters.

Estuarine and coastal environments have experienced dissolved oxygen (DO hereafter) depression and hypoxia due to increasingly intensified anthropogenic eutrophication and climate warming. This review compared diverse systems in Chinese coastal waters that experience DO depletion or hypoxia, aiming to identify essential aspects in advancing the abilities in comprehensively understanding DO dynamics across systems that span wide ranges of physical and biogeochemical environments. The coastal DO depression and relevant ecological consequences around the world are generally overviewed.

The effects of a psychoeducational intervention on caregivers of colorectal cancer patients: A meta-analysis of randomized controlled trials.

Purpose: To investigate the impacts of psychoeducational interventions in adjusting the physical and psychological statuses of caregivers of CRC patients.

Methods: Nine electronic databases, including Medline, Web of Science, Embase, Cochrane Library, CINAHL Complete, CNKI, Wan Fang Database, VIP Database, and CBM, were searched to identify eligible randomized controlled trials from January 2000 to July 2023. From 1498 articles, 9 articles that met the inclusion criteria were identified and systematically analyzed.

Gelatin-DOPA-knob/fibrinogen hydrogel inspired by fibrin polymerization and mussel adhesion for rapid and robust hemostatic sealing.

Tissue adhesives have attracted significant interest in the field of hemostasis. However, challenges including weak tissue adhesion, inadequate biocompatibility, and instability limit their clinical applications. Here, we have developed a gelatin-DOPA-knob/fibrinogen hydrogel inspired by the fibrin polymerization and mussel adhesion, resulting in a biocompatible bioadhesive with outstanding adhesion performance and great storage stability.

Integrated SERS-Microfluidic Sensor Based on Nano-Micro Hierarchical Cactus-like Array Substrates for the Early Diagnosis of Prostate Cancer.

The detection and analysis of cancer cell exosomes with high sensitivity and precision are pivotal for the early diagnosis and treatment strategies of prostate cancer. To this end, a microfluidic chip, equipped with a cactus-like array substrate (CAS) based on surface-enhanced Raman spectroscopy (SERS) was designed and fabricated for the detection of exosome concentrations in Lymph Node Carcinoma of the Prostate (LNCaP). Double layers of polystyrene (PS) microspheres were self-assembled onto a polyethylene terephthalate (PET) film to form an ordered cactus-like nanoarray for detection and analysis.

A novel proceduralized donor liver back-table preparation technique minimizes hemorrhage following liver implantation in orthotropic liver transplantation.

Background: Intraoperative hemorrhage is one of the major complications of orthotopic liver transplantation (OLT) and is mainly caused by technical difficulties of the surgical procedure besides primary liver diseases. The present study aimed to evaluate the feasibility and clinical effects of a novel proceduralized donor liver back-table preparation (DLBTP) technique for use in OLT.

Methods: This retrospective study was conducted between January 2018 and June 2020 based on patients who had undergone OLT.

An "Outer Piezoelectric and Inner Epigenetic" Logic-Gated PANoptosis for Osteosarcoma Sono-Immunotherapy and Bone Regeneration.

The precise manipulation of PANoptosis, a newly defined cell death pathway encompassing pyroptosis, apoptosis, and necroptosis, is highly desired to achieve safer cancer immunotherapy with tumor-specific inflammatory responses and minimal side effects. Nonetheless, this objective remains a formidable challenge. Herein, an "AND" logic-gated strategy for accurately localized PANoptosis activation, utilizing composite 3D-printed bioactive glasses scaffolds integrated with epigenetic regulator-loaded porous piezoelectric SrTiO nanoparticles is proposed.