A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).

MRI-based deep learning radiomics to differentiate dual-phenotype hepatocellular carcinoma from HCC and intrahepatic cholangiocarcinoma: a multicenter study.

Objectives: To develop and validate radiomics and deep learning models based on contrast-enhanced MRI (CE-MRI) for differentiating dual-phenotype hepatocellular carcinoma (DPHCC) from HCC and intrahepatic cholangiocarcinoma (ICC).

Methods: Our study consisted of 381 patients from four centers with 138 HCCs, 122 DPHCCs, and 121 ICCs (244 for training and 62 for internal tests, centers 1 and 2; 75 for external tests, centers 3 and 4). Radiomics, deep transfer learning (DTL), and fusion models based on CE-MRI were established for differential diagnosis, respectively, and their diagnostic performances were compared using the confusion matrix and area under the receiver operating characteristic (ROC) curve (AUC).

Anterior cervical discectomy and fusion with self-locking standalone cage for the treatment of cervical degenerative disc disease in patients over 80 years.

Background: The need for anterior cervical discectomy and fusion (ACDF) for cervical degenerative disc disease (CDDD) will probably grow dramatically in the geriatric population. However, ACDF with self-locking standalone cages in patients over 80 years has not yet been investigated. This study aimed to assess the clinical and radiographic results in patients over 80 years treated by ACDF with self-locking standalone cages.

3D-AttenNet model can predict clinically significant prostate cancer in PI-RADS category 3 patients: a retrospective multicenter study.

Purposes: The presence of clinically significant prostate cancer (csPCa) is equivocal for patients with prostate imaging reporting and data system (PI-RADS) category 3. We aim to develop deep learning models for re-stratify risks in PI-RADS category 3 patients.

Methods: This retrospective study included a bi-parametric MRI of 1567 consecutive male patients from six centers (Centers 1-6) between Jan 2015 and Dec 2020.

A radiopathomics model for predicting large-number cervical lymph node metastasis in clinical N0 papillary thyroid carcinoma.

Objectives: This study aimed to develop a multimodal radiopathomics model utilising preoperative ultrasound (US) and fine-needle aspiration cytology (FNAC) to predict large-number cervical lymph node metastasis (CLNM) in patients with clinically lymph node-negative (cN0) papillary thyroid carcinoma (PTC).

Materials And Methods: This multicentre retrospective study included patients with PTC between October 2017 and June 2024 across seven institutions. Patients were categorised based on the presence or absence of large-number CLNM in training, validation, and external testing cohorts.

Drainage from intentional extramacular holes after internal limiting membrane insertion to treat macular hole retinal detachment in highly myopic eyes.

Purpose: The purpose is to evaluate the effect of drainage from intentional extramacular holes after internal limiting membrane insertion to treat macular hole retinal detachment (MHRD) in highly myopic eyes.

Methods: This study is a retrospective, observational, and comparative case series that included 25 consecutive highly myopic eyes with MHRD. All eyes underwent standard 23-gauge vitrectomy, inverted internal limiting membrane insertion into the macular hole, subretinal fluid drainage from an intentionally created extramacular retinal hole, and tamponade with either silicone oil (SO group, n = 13) or perfluoropropane (CF group, n = 12).

Urinary bioorthogonal reporters for the monitoring of the efficacy of chemotherapy for lung cancer and of associated kidney injury.

The utility of urinary tests for the monitoring of the treatment efficacy and adverse events of anticancer therapies is constrained by the low concentration of relevant urinary biomarkers. Here we report, using mice with lung cancer and treated with chemotherapy, of a urinary fluorescence test for the concurrent monitoring of the levels of a tumour biomarker (cathepsin B) and of a biomarker of chemotherapy-induced kidney injury (N-acetyl-β-D-glucosaminidase). The test involves two intratracheally administered urinary reporters leveraging caged bioorthogonal click handles for the biomarker-dependent activation of 'clickability' and renal clearance, and the bioorthogonal click reaction of each renally cleared reporter with paired fluorescence indicators in the collected urine.

Multi-modal framework for battery state of health evaluation using open-source electric vehicle data.

Accurate, practical, and robust evaluation of the battery state of health is crucial to the efficient and reliable operation of electric vehicles. However, the limited availability of large-scale, high-quality field data hinders the development of the battery management system for state of health estimation, lifetime prediction, and fault detection in various applications. In this work, to gain insights into underlying factors limiting battery management system performance in real-world vehicles, we analyze the operational data of 300 diverse electric vehicles over three years to understand the disparities between field data and laboratory battery test data and their effect on state of health estimation.

Aptamer-Antibody Birecognized Sandwich SERRS Biosensor in Accurate and Rapid Identification of Intraoperative Parathyroid Hormone.

With the increasing incidence of thyroid cancer worldwide and the increasing demand for surgery, the risk of parathyroid injury is also increasing, which will lead to postoperative hypoparathyroidism (HP) and hypocalcemia. In order to improve the quality of life of patients after surgery, there is an urgent need to develop a novel platform that can identify the parathyroid gland immediately during surgery. The parathyroid gland promotes the increase of blood calcium concentration by secreting parathyroid hormone (PTH).

Molecular Uranium Dioxide-Mediated CO Photoreduction.

The reduction of CO mediated by transition metals has garnered significant interest, yet little is known about the reduction of CO using f-element compounds. Herein, the reduction of CO to CO by tetravalent uranium (U) compound UO is investigated via matrix isolation infrared spectroscopy and quantum chemical study. Our results reveal that a stable carbonate intermediate OUCO () can be prepared at low temperatures (4-12 K).

Listening to the voices of adolescents with inflammatory bowel disease after returning to school: a qualitative study.

Background: The prevalence of inflammatory bowel disease (IBD) among Chinese adolescents has continued to increase in recent years. Adolescents with IBD interrupted their schooling due to the diagnosis and treatment of the disease. And when the condition stabilises, they will return to school.

Prognostic Value of Coronary Angiography-Derived Index of Microcirculatory Resistance in Patients With Intermediate Coronary Stenosis.

Background: The association between coronary microcirculation and clinical outcomes in patients with intermediate stenosis remains unclear.

Objectives: The aim of this study was to assess the prognostic significance of angiography-derived index of microcirculatory resistance (angio-IMR) in patients with intermediate coronary stenosis.

Methods: This post hoc analysis included 1,658 patients from the FLAVOUR (Fractional Flow Reserve and Intravascular Ultrasound for Clinical Outcomes in Patients with Intermediate Stenosis) trial, with angio-IMR measured in each vessel exhibiting intermediate stenosis.

Characterization of novel mutations involved in the development of resistance to colistin in Salmonella isolates from retail pork in Shanghai, China.

Salmonella is an important foodborne pathogen that poses a significant threat to food safety. This study aims to assess the prevalence, genomic features, and colistin-resistant mechanisms of Salmonella isolates collected from 118 retail pork samples from January 2021 to January 2022 in Shanghai, China. Overall, 46 (39.

Development and validation of a novel risk-predicted model for early sepsis-associated acute kidney injury in critically ill patients: a retrospective cohort study.

Objectives: This study aimed to develop a prediction model for the detection of early sepsis-associated acute kidney injury (SA-AKI), which is defined as AKI diagnosed within 48 hours of a sepsis diagnosis.

Design: A retrospective study design was employed. It is not linked to a clinical trial.

KDiffered brain spontaneous neural activity between limb-onset and bulbar-onset amyotrophic lateral sclerosis patients.

Purpose: To investigate the differences in brain spontaneous neural activity between limb-onset and bulbar-onset amyotrophic lateral sclerosis (ALS-L and ALS-B, respectively) patients using resting-state functional MRI (rs-fMRI) with amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo).

Materials And Methods: The rs-fMRI data were collected from 41 ALS patients (11 ALS-B and 30 ALS-L) and 25 healthy controls (HC). ALFF and ReHo values were calculated, and group differences were assessed using one-way ANCOVA and two-sample t-tests.

Rubicon siRNA-encapsulated liver-targeting nanoliposome is a promising therapeutic for non-alcoholic fatty liver disease.

Non-alcoholic fatty liver disease (NAFLD) is a prevalent metabolic liver disorder worldwide, and effective therapeutic strategies for its treatment remains limited. In this article, we introduced Glipo-siRubi, a hepatocytes-targeting RNA interference (RNAi) nanoliposome for suppression of Rubicon expression, aiming to achieve precise regulation of autophagy in NAFLD. Autophagy activation induced by Rubicon suppression resulted in reduced endoplasmic reticulum stress and intracellular lipid accumulation in vitro.

Moderating Effect of Green Space on Relationship Between Atmospheric Particulate Matter and Cardiovascular and Cerebrovascular Disease Mortality in Ningxia, China.

Objective: This study explores the moderating effect of green space on the association between atmospheric particulate matter (PM) and cardiovascular and cerebrovascular disease (CCVD) mortality.

Methods: Data on CCVD mortality, PM, meteorological factors, and the Normalized Difference Vegetation Index (NDVI) of green spaces in Ningxia from 2010 to 2020 were collected. A time-series generalized additive mixed-effect model (GAMM) was applied to analyze the exposure-response relationship between PM and CCVD mortality.

Constraint-induced movement therapy combined with intermittent theta-burst stimulation improve synaptic plasticity by inhibiting neutrophils extracellular traps formation in ipsilateral primary motor cortex of stroke rats.

The effect of Constraint-induced movement therapy (CIMT) or Intermittent theta-burst stimulation (iTBS) alone is limited in improving motor function after a stroke. In this study, we explored the efficacy and possible mechanisms in combination of CIMT and iTBS through behavioral evaluation, RNA sequencing, Golgi staining, transmission electronic microscope (TEM), high-performance liquid chromatography (HPLC), western blotting (WB) and immunofluorescence. Firstly, we observed that combination therapy is safe and effective, and it can significantly reduce the number of immature dendritic spines and increase the number of functional dendritic spines, the amount of glutamate (Glu) and the expression of Glu1 receptor (Glu1R).

Assessing the impact of non-pharmaceutical interventions against COVID-19 on 64 notifiable infectious diseases in Australia: A Bayesian Structural Time Series model.

Background: Several studies have examined the effect of non-pharmaceutical interventions (NPIs) on COVID-19 and other infectious diseases in Australia and globally. However, to our knowledge none have sufficiently explored their impact on other infectious diseases with robust time series model. In this study, we aimed to use Bayesian Structural Time Series model (BSTS) to systematically assess the impact of NPIs on 64 National Notifiable Infectious Diseases (NNIDs) by conducting a comprehensive and comparative analysis across eight disease categories within each Australian state and territory, as well as nationally.

ShadowGAN-Former: Reweighting self-attention based on mask for shadow removal.

Shadow removal remains a challenging visual task aimed at restoring the original brightness of shadow regions in images. Many existing methods overlook the implicit clues within non-shadow regions, leading to inconsistencies in the color, texture, and illumination of the reconstructed shadow-free images. To address these issues, we propose an efficient hybrid model of Transformer and Generative Adversarial Network (GAN), named ShadowGAN-Former, which utilizes information from non-shadow regions to assist in shadow removal.

Hydroxyacyl-coenzyme A dehydrogenase: A biomarker for authentication of death from mechanical asphyxia.

Death from mechanical asphyxia (DMA) refers to death from acute respiratory disorder caused by mechanical violence. Due to the absence of characteristic signs in corpses, it has been rather challenging to achieve the precise authentication of DMA. In this research, human pulmonary samples were collected and grouped according to different causes of death in search of potential biomarkers of DMA.

Enhanced bile acid detection and analysis in liver fibrosis with pseudo-targeted metabolomics.

Bile acids (BAs) are essential signaling molecules that engage in host and gut microbial metabolism, playing a crucial role in maintaining organismal stability. Liquid chromatography-mass spectrometry (LC-MS) is a widely employed technique for metabolite analysis in biological samples due to its high sensitivity, excellent specificity, and low detection limits. This method has emerged as the mainstream approach for the detection and analysis of BAs.

Construction of hierarchically porous covalent organic frameworks with enhanced enzyme accessibility for sensitive dopamine detection.

Immobilization of fragile enzymes is vital to expanding its application in the extracellular environment. Covalent organic frameworks (COFs), as a class of emerging porous materials, are promising platforms for enzyme immobilization owing to their high porosity and tunable structure. However, the interior pores of COFs often fail to play their roles because of inaccessibility, resulting in decreased performance of immobilized enzymes.

Metabolic profiling of abdominal subcutaneous adipose tissue reveals effects of apple polyphenols for reversing high-fat diet induced obesity in C57BL/6 J mice.

Apple polyphenols (APP) can reduce obesity. However, the effects of APP on abdominal subcutaneous adipose tissue (aSAT) at metabolic level were unclear. In this study, 5-week APP intervenes were conducted on 10-week high-fat diet (HFD) feeding mice with doses of 200 and 500 mg/kg b.

From dual nucleic acid co-extraction to co-sequencing: A highly integrated next-generation forensic DNA and RNA sequencing experimental workflow.

DNA and RNA markers are significant in forensic practices, such as individual and body fluid identification. However, forensic DNA and RNA markers were separately analyzed in most forensic experiments, which resulted in large amounts of sample consumption, complex procedures, and weak inter-evidence correlation. While several integrated methods based on capillary electrophoresis and next-generation sequencing technologies were reported, integrated procedures were mostly on nucleic acid co-extraction, co-electrophoresis, or co-sequencing, and the number and type of markers co-tested were limited.