Development of a prognostic model incorporating a cuproptosis-related signature and CNN3 as a predictor in childhood acute myelocytic leukemia.

Background: Childhood acute myeloid leukemia (cAML) is the second most common pediatric blood cancer, with high heterogeneity and poor prognosis. Recent studies have highlighted cuproptosis, a newly discovered form of programmed cell death triggered by the accumulation of intracellular copper ions, as a critical mechanism influencing cancer survival and resistance. Given its emerging role in cancer biology, we investigated cuproptosis-related genes (CRGs) in cAML to explore their potential in prognostic prediction and therapeutic targeting.

Long-term distress throughout one's life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China.

Introduction: Neurofibromatosis type 1 (NF1) is a rare genetic disorder, with lack of evidence of disease burden in China. We aimed to describe the economic burden, health-related quality of life (HRQL), and caregiver burden of NF1 patients in China.

Methods: We conducted an online cross-sectional survey employing the China Cloud Platform for Rare Diseases, with 223 caregivers of NF1 pediatric patients (patients under 18), and 226 adult patients.

TRIM8 as a predictor for prognosis in childhood acute lymphoblastic leukemia based on a signature of neutrophil extracellular traps.

Background: Neutrophil extracellular traps (NETs) can be attributed to the metastasis, occurrence, and immune evasion of cancer cells. We investigated the prognostic value of NET-related genes in childhood acute lymphoblastic leukemia (cALL) patients.

Methods: Differential gene expression analysis was conducted on samples collected from public databases.

Upconversion Luminescence in a Photostable Ion-Paired Yb-Eu Heteronuclear Complex.

Lanthanide-based upconversion molecular complexes have potential application in diverse fields and attracted considerable research interest in recent years. However, the similar coordination reactivity of lanthanide ions has constrained the designability of target molecule with well-defined structure, and many attempts obtained statistical mixtures. Herein, an ion-paired Yb-Eu heteronuclear complex [Eu(Tp)][Yb(ND)] (Tp=tris[3-(2-pyridyl)pyrazolyl]hydroborate, ND=3-cyano-2-methyl-1,5-naphthyridin-4-olate) was designed and synthesized.

Risk projection for time-to-event outcome from population-based case-control studies leveraging summary statistics from the target population.

Risk stratification based on prediction models has become increasingly important in preventing and managing chronic diseases. However, due to cost- and time-limitations, not every population can have resources for collecting enough detailed individual-level information on a large number of people to develop risk prediction models. A more practical approach is to use prediction models developed from existing studies and calibrate them with relevant summary-level information of the target population.

Association between triglyceride glucose index and severity of diabetic foot ulcers in type 2 diabetes mellitus.

Background: Triglyceride glucose (TyG) index is a good surrogate biomarker to evaluate insulin resistance (IR). The study aimed to investigate whether the TyG index is related to the severity of diabetic foot ulcers (DFUs) in patients with type 2 diabetes mellitus (T2DM).

Methods: A total of 1059 T2DM patients were enrolled in this observational, retrospective, single-center study.

Physicians' use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study.

Background: Genetic testing can facilitate the diagnosis and subsequent therapeutic management of rare diseases. However, there is a lack of data on the use of genetic testing for rare diseases. This study aims to describe the utilization rate and troubles encountered by clinicians in treating rare diseases with genetic testing.

A Generalized Integration Approach to Association Analysis with Multi-category Outcome: An Application to a Tumor Sequencing Study of Colorectal Cancer and Smoking.

Cancer is a heterogeneous disease, and rapid progress in sequencing and -omics technologies has enabled researchers to characterize tumors comprehensively. This has stimulated an intensive interest in studying how risk factors are associated with various tumor heterogeneous features. The Cancer Prevention Study-II (CPS-II) cohort is one of the largest prospective studies, particularly valuable for elucidating associations between cancer and risk factors.

Frequency and Type of Ponticulus Posticus and Lateralis in a Chinese Population: A CT-Based Analysis of 4047 Cases.

Aim: To investigate the prevalence and type of ponticulus posticus (PP) and ponticulus lateralis (PL) in the Chinese population by analyzing computed tomography (CT) scans, and to uncover the pathogenesis of PP and PL.

Material And Methods: A total of 4,047 cases were included in this study. We evaluated cervical spine CT scans with three dimensional reconstructions and collected age, gender, and presence of PP and PL in each case.

Risk-Stratified Screening for Colorectal Cancer Using Genetic and Environmental Risk Factors: A Cost-Effectiveness Analysis Based on Real-World Data.

Background & Aims: Previous studies on the cost-effectiveness of personalized colorectal cancer (CRC) screening were based on hypothetical performance of CRC risk prediction and did not consider the association with competing causes of death. In this study, we estimated the cost-effectiveness of risk-stratified screening using real-world data for CRC risk and competing causes of death.

Methods: Risk predictions for CRC and competing causes of death from a large community-based cohort were used to stratify individuals into risk groups.

Deficiency of Perry syndrome-associated p150 in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.

Multiple missense mutations in p150 are linked to Perry syndrome (PS), a rare neurodegenerative disease pathologically characterized by loss of nigral dopaminergic (DAergic) neurons. Here we generated p150 conditional knockout (cKO) mice by deleting p150 in midbrain DAergic neurons. The young cKO mice displayed impaired motor coordination, dystrophic DAergic dendrites, swollen axon terminals, reduced striatal dopamine transporter (DAT), and dysregulated dopamine transmission.

IMMUNOSUPPRESSION CORRELATES WITH THE DETERIORATION OF SEPSIS-INDUCED DISSEMINATED INTRAVASCULAR COAGULATION.

Background: The dysregulated host responses play a crucial role in the pathophysiology process of sepsis-induced disseminated intravascular coagulation (DIC). The study aimed to characterize the dynamic alternation of immune-related biomarkers and their relationship with the progression of DIC during sepsis. Methods: A prospective, observational study was conducted in a tertiary care academic hospital.

Risk Projection for Time-to-event Outcome Leveraging Summary Statistics With Source Individual-level Data.

Predicting risks of chronic diseases has become increasingly important in clinical practice. When a prediction model is developed in a cohort, there is a great interest to apply the model to other cohorts. Due to potential discrepancy in baseline disease incidences between different cohorts and shifts in patient composition, the risk predicted by the model built in the source cohort often under- or over-estimates the risk in a new cohort.

Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort.

Background: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. This study externally validated a PRS-enhanced colorectal cancer risk model comprising 140 known colorectal cancer loci to provide a comprehensive assessment on prediction performance.

Metabolic outcomes in patients with type 2 diabetes mellitus after metabolic management center.

The Chinese Medical Doctor Association has initiated metabolic management center (MMC) program for 6 years since 2016 nationwide. It is worth investigating the level of control metabolic outcomes in patients with type2 diabetes (T2DM) after MMC model in Yan'an, northwest China. Patients with T2DM was admitted to MMC in Yan'an University Affiliated Hospital from November 2018 to July 2021.

EphA4 regulates white matter remyelination after ischemic stroke through Ephexin-1/RhoA/ROCK signaling pathway.

Ischemic stroke, which accounts for nearly 80% of all strokes, leads to white matter injury and neurobehavioral dysfunction, but relevant therapies to inhibit demyelination or promote remyelination after white matter injury are still unavailable. In this study, the middle cerebral artery occlusion/reperfusion (MCAO/R) in vivo and oxygen-glucose deprivation/reoxygenation (OGD/R) in vitro were used to establish the ischemic models. We found that Eph receptor A4 (EphA4) had no effect on the apoptosis of oligodendrocytes using TUNEL staining.

cPKCγ Deficiency Exacerbates Autophagy Impairment and Hyperphosphorylated Tau Buildup through the AMPK/mTOR Pathway in Mice with Type 1 Diabetes Mellitus.

Type 1 diabetes mellitus (T1DM)-induced cognitive dysfunction is common, but its underlying mechanisms are still poorly understood. In this study, we found that knockout of conventional protein kinase C (cPKC)γ significantly increased the phosphorylation of Tau at Ser214 and neurofibrillary tangles, but did not affect the activities of GSK-3β and PP2A in the hippocampal neurons of T1DM mice. cPKCγ deficiency significantly decreased the level of autophagy in the hippocampal neurons of T1DM mice.

The Role of Heparin and Glycocalyx in Blood-Brain Barrier Dysfunction.

The blood-brain barrier (BBB) functions as a dynamic boundary that protects the central nervous system from blood and plays an important role in maintaining the homeostasis of the brain. Dysfunction of the BBB is a pathophysiological characteristic of multiple neurologic diseases. Glycocalyx covers the luminal side of vascular endothelial cells(ECs).

Molecular and Pathology Features of Colorectal Tumors and Patient Outcomes Are Associated with and Its Subspecies .

Background: () activates oncogenic signaling pathways and induces inflammation to promote colorectal carcinogenesis.

Methods: We characterized and its subspecies in colorectal tumors and examined associations with tumor characteristics and colorectal cancer-specific survival. We conducted deep sequencing of , , and bacterial genes in tumors from 1,994 patients with colorectal cancer and assessed associations between presence and clinical characteristics, colorectal cancer-specific mortality, and somatic mutations.

Re-calibrating pure risk integrating individual data from two-phase studies with external summary statistics.

Accurate risk assessment is critical in clinical decision-making. It entails the projected risk based on a risk prediction model agreeing with the observed risk in the target cohort. However, the model often over- or under-estimates the risk.

Usefulness of metagenomic next-generation sequencing in adenovirus 7-induced acute respiratory distress syndrome: A case report.

Background: Direct metagenomic next-generation sequencing (mNGS) of clinical samples is an effective method for the molecular diagnosis of infection. However, its role in the diagnosis of patients with acute respiratory distress syndrome (ARDS) of an unknown infectious etiology remains unclear.

Case Summary: A 33-year-old man was admitted to our center for a cough and febrile sensation.

Predicting Progression of COVID-19 Infection to Prioritize Medical Resource Allocation: A Novel Triage Model Based on Patient Characteristics and Symptoms at Presentation.

The COVID-19 global pandemic has posed unprecedented challenges to health care systems all over the world. The speed of the viral spread results in a tsunami of patients, which begs for a reliable screening tool using readily available data to predict disease progression. Multicenter retrospective cohort study was performed to develop and validate a triage model.