Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics.

Background: Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in the SLC22A5 gene, with its prevalence and the spectrum of mutations in SLC22A5 varying across races and regions. This study aimed to analyze the clinical and genetic characteristics of PCD patients, including newborns and their mothers, identified by newborn screening (NBS) in Hefei, China.

Methods: The dried blood spot samples from newborns were analyzed using tandem mass spectrometry (MS/MS) from July 2015 to December 2024.

Inhibitor of Growth Proteins: Epigenetic Regulators Shaping Neurobiology.

The inhibitor of growth (ING) family of proteins is emerging as a pivotal regulator of epigenetic modifications within the nervous system. These proteins are involved in various cellular processes, including apoptosis, cell cycle control, and DNA repair, through interactions with chromatin-modifying complexes. Recent studies underscore the dual role of ING proteins in both tumor suppression and neuronal differentiation, development, and neuroprotection.

Design and implementation of an independent-drive bionic dragonfly robot.

Bionic flapping wing robots achieve flight by imitating animal flapping wings, which are safe, flexible, and efficient. Their practicality and human-machine symbiosis in narrow and complex environments are better than traditional fixed-wing or multirotor drones, indicating broader application potential. By systematic and biomimetic methods, a bionic dragonfly robot with four independent drive flapping wings, called DFly-I, was designed.

Evolution of aroma compounds in round soy sauce aroma type baijiu during aging and the effect of aging markers on the lasting aroma in finished glass.

Soy sauce aroma type Baijiu (SSAB) is a complex blend of seven rounds of raw SSAB, each with distinct aroma profiles that evolve during maturation. Tracking the aging of individual rounds is crucial for understanding flavor development. The round 1-4 SSABs were analyzed by gas chromatography-mass spectrometry and an electronic tongue over one-year aging.

Role of VDAC1 in hepatocyte apoptosis during acute liver injury in rats induced by obstructive jaundice.

Objectives: Exploring the role of VDAC1 in hepatocyte apoptosis during acute liver injury induced by obstructive jaundice.

Materials And Methods: Animal and cell models were established to investigate possible mechanisms during acute liver injury induced by OJ. Blood was collected for liver function assessment.

Protocol for correlating the gut microbiome and metabolomics in patients with intracranial aneurysms.

Gut-microbiome-combined metabolomics studies in cerebrovascular disease highlight the microbiota-gut-brain axis in neurological disorders. Here, we present a protocol for correlating the gut microbiome and metabolomics in patients with intracranial aneurysms. We describe steps for sample collection, fecal genomic DNA extraction, rRNA PCR amplification, sequencing library construction, and rRNA sequencing.

Small Molecular Oligopeptides Adorned with Tryptophan Residues as Potent Antitumor Agents: Design, Synthesis, Bioactivity Assay, Computational Prediction, and Experimental Validation.

Tryptophan participates in important life activities and is involved in various metabolic processes. The indole and aromatic binuclear ring structure in tryptophan can engage in diverse interactions, including π-π, π-alkyl, hydrogen bonding, cation-π, and CH-π interactions with other side chains and protein targets. These interactions offer extensive opportunities for drug development.

Metabolic factors for liver cirrhosis: A Mendelian randomization study.

Liver cirrhosis is a chronic disease caused by long-term inflammation and fibrosis of the liver. Early identification and intervention in liver cirrhosis have become an important goal for researchers to explore the influence of some metabolic factors on the risk of liver cirrhosis in terms of genetic susceptibility. Data from genome-wide association studies (GWASs) of fourteen metabolic factors and liver cirrhosis were obtained from publicly available databases.

Neoadjuvant adebrelimab combined with chemotherapy (cisplatin/carboplatin and etoposide) for limited-stage small-cell lung cancer: a study protocol of phase 2 trial (NIUS).

Introduction: Small-cell lung cancer (SCLC) is a highly malignant neuroendocrine tumour, and concurrent chemoradiotherapy is the current recommended treatment for limited-stage SCLC. However, the overall survival (OS) of patients with SCLC remains poor. Therefore, improving the survival of patients with SCLC and benefitting more patients are urgent clinical requirements.

Identification of O-glycosylation related genes and subtypes in ulcerative colitis based on machine learning.

Ulcerative colitis (UC) is an immune-related inflammatory bowel disease, with its underlying mechanisms being a central area of clinical research. O-GlcNAcylation plays a critical role in regulating immunity progression and the occurrence of inflammatory diseases and tumors. Yet, the mechanism of O-GlcNAc-associated colitis remains to be elucidated.

Study on molecular response of alfalfa to low temperature stress based on transcriptomic analysis.

Background: Alfalfa (Medicago sativa L.) is an important high-quality forage crop. Low temperature is an abiotic stress factor that affects the distribution and productivity of alfalfa.

CircSATB2 modulates fear extinction memory via Robo3-driven synaptic plasticity.

Circular RNAs (circRNAs) are novel class of stable regulatory RNAs abundantly expressed in the brain. However, their role in fear extinction (EXT) memory remains largely unexplored. To investigate the mechanisms of Circular Special AT-rich Sequence Binding Protein 2 (circSatb2) in EXT memory, we constructed a lentivirus overexpressing circSatb2 and injected it into the infralimbic prefrontal cortex (ILPFC) of the mouse brain.

Quantification of serum daratumumab in multiple myeloma patients by LC-MS/MS, comparison with ELISA.

Daratumumab is a fully human immunoglobulin G1 monoclonal antibody employed for treating relapsed/refractory multiple myeloma and light-chain amyloidosis. Quantifying monoclonal antibodies in serum presents challenges due to interference from biological matrices. This research aimed to develop and verify an liquid chromatography tandem-mass spectrometry (LC-MS/MS) approach for quantifying serum daratumumab, employing immunoglobulin G purification without alkylation, and to assess its applicability in patients with multiple myeloma receiving intravenous daratumumab.

Gas sensing performance of TiCT MXene heterojunction structures in greenhouse environments: a mini review.

With the continuous advancement of smart greenhouse technologies, digital and information-based environmental monitoring has emerged as a focal point of research. The development of high-performance gas sensors is central to achieving this objective. In recent years, MXene materials have been widely applied in the field of gas sensors due to their excellent ion mobility, favorable hydrophilicity, outstanding electronic conductivity, and unique physicochemical properties.

Identification of hsa_circ_0076957 and miR-4512-targeted COL19A1 as regulators in clopidogrel resistance among stable coronary heart disease patients through comprehensive circRNA and miRNA analysis.

Background: Clopidogrel resistance (CR) increases the risk of atherothrombotic events. Emerging evidence suggests that circRNAs may influence pharmacodynamic responses to clopidogrel.

Methods: A total of 25 CR and 25 non-clopidogrel resistance (NCR) patients were enrolled.

Comparative analysis of triplanar Chevron osteotomy (TCO) and Chevron osteotomy (CO) for treating mild to moderate hallux valgus via computer simulation and 3D printing: An observational study.

Hallux valgus (HV) deformity, which is characterized by lateral deviation and pronation of the metatarsophalangeal joint, demonstrates complex 3-dimensional challenges, thus prompting the development of various surgical approaches, including traditional Chevron osteotomy (CO) and novel triplanar Chevron osteotomy (TCO). The objective of this study is to determine TCO at various tilt angles by employing 3D printing for ex vivo osteotomy angle simulations and computer modeling to correct deformities across 3 planes, thus aiming to enhance surgical outcomes by preserving or even increasing the length of the first metatarsal and thereby overcoming the limitations of CO. In this study, we collected and analyzed non-weight-bearing CT data from 55 patients (61 feet) with mild-to-moderate hallux valgus, plantar callosities and metatarsalgia from June 2019 to June 2020.

Microstructured Liquid Metal-Based Embedded-Type Sensor Array for Curved Pressure Mapping.

Human hands can envelop the surface of an object and recognize its shape through touch. However, existing stretchable haptic sensors exhibit limited flexibility and stability to detect pressure during deformation, while also solely achieving recognition of planar objects. Inspired by the structure of skin tissue, an embedded construction-enabled liquid metal-based e-skin composed of a liquid metal microstructured electrode (LM-ME) array is fabricated for curved pressure mapping.

Multiple omics reveal link between the microbiota-gut-brain axis and intracranial aneurysm rupture.

Intracranial aneurysms (IAs) are benign cerebrovascular maladies characterized by wall dilatation in the intracranial arteries. Nevertheless, spontaneous aneurysmal rupture can cause a life-threatening spontaneous subarachnoid hemorrhage (SAH). Emerging evidence indicates potential associations between gut dysbiosis and IAs pathogenesis, though the relationship with IA rupture remains unclear.

The relationship between tricuspid annular plane systolic excursion on transesophageal echocardiography and the incidence of postoperative acute kidney injury in patients undergoing coronary artery bypass grafting surgery: a multicenter prospective cohort study.

Background: To date, the relationship between the Transesophageal Echocardiography (TEE) monitoring indicator tricuspid annular plane systolic excursion (TAPSE) and the incidence of postoperative acute kidney injury (AKI) in Coronary Artery Bypass Grafting(CABG) patients remains unknown. The main objective of this study was to explore the relationship between the TAPSE and the incidence of AKI in CABG patients.

Methods: This was a multicenter prospective cohort study was conducted between September 2021 and July 2022.

An insight into G-quadruplexes: Identification and potential therapeutic targets in livestock viruses.

G-quadruplexes (G4s) are non-canonical nucleic acids secondary structures that involve in the regulation of some key biological processes, such as replication, transcription, and translation. G4s have been extensively described in the genomes of human and related diseases. In recent years, G4s were identified in several livestock viruses, including those of the emerging epidemics, like Nipah virus (NiV).

CDK4/6 inhibitor PD-0332991 suppresses hepatocarcinogenesis by inducing senescence of hepatic tumor-initiating cells.

Introduction: Owing to the limited treatment options for hepatocellular carcinoma (HCC), interventions targeting pre-HCC stages have attracted increasing attention. In the pre-HCC stage, hepatic tumor-initiating cells (hTICs) proliferate abnormally and contribute to hepatocarcinogenesis. Numerous studies have investigated targeted senescence induction as an HCC intervention.