A novel TSC2 variant cosegregating with TSC in the family: A case report.

Rationale: Tuberous sclerosis complex is a multisystem genetic disorder caused by variant of TSC1 or TSC2, which were defined as an independent diagnostic criterion for TSC.

Patient Concerns: We present a novel hereditary variant in a family. The family showed a phenomenon of familial aggregation in the Tuberous sclerosis complex.

Comprehensive clinical scale-based machine learning model for predicting subthalamic nucleus deep brain stimulation outcomes in Parkinson's disease.

Parkinson's Disease (PD) is a growing burden with varied clinical manifestations and responses to Subthalamic Nucleus Deep Brain Stimulation (STN-DBS). At present, there is no effective and simple machine learning model based on comprehensive clinical scales to predict the improvement in motor symptoms of PD treated with DBS. A total of 647 PD patients from the First Affiliated Hospital of University of Science and Technology of China were enrolled retrospectively.

Adverse Effects of Anabolic Androgenic Steroid Abuse in Athletes and Physically Active Individuals: A Systematic Review and Meta-Analysis.

Background: Anabolic-androgenic steroids (AAS) are synthetic derivatives of testosterone, primarily used for their anabolic effects in increasing muscle mass. However, AAS have been increasingly abused, posing significant health risks due to their severe effects.

Objectives: This study aimed to quantify the adverse effects of AAS abuse across a diverse population of various ages.

Paternal alcohol exposure affected offspring mesenteric artery via ROS-Cacna1c and DNA hypomethylation.

Background: Paternal preconception alcohol exposure affects fetal development; however, it is largely unknown about the influences on offspring vasculature and mechanisms.

Methods: Offspring born form paternal rats treated with alcohol or water before pregnant was raised until 3 months of age. Vessel tone of mesenteric arteries was detected using myograph system; whole-cell calcium channel current in smooth muscle cells was tested using patch-clamp; molecule expressions were detected with real-time PCR, western blotting, and Dihydroethidium (DHE); DNA methylations were determined using targeted bisulfate sequencing assay.

Comparison and chemometrics analysis of phenolic compounds and mineral elements in Artemisia Argyi Folium from different geographical origins.

The quality of Artemisia Argyi Folium (AAF), a traditional Chinese food ingredient, is intrinsically linked to its geographical origin, which this study explores through phenolic compounds and mineral elements. The contents of 17 phenols and 18 minerals differed significantly between geographically distinct samples according to UHPLC and ICP-MS, respectively. Chemometrics indicated that a supervised model, orthogonal partial least squares discriminant analysis (OPLS-DA), outperformed unsupervised methods at classifying AAF samples by their origins.

A Numerical Study of the Mechanical Behavior of Jointed Soft Rocks under Triaxial Loading Using a Bonded Particle Model.

In order to master the strength and deformation characteristics, including the macro-micro failure mechanism of soft rock samples with penetrating joints under triaxial loading, a series of numerical triaxial tests have been carried out. The strength and deformation characteristics, failure modes, crack propagation, distribution of force chains, and the influences of joint dip angles and confining pressures have been analyzed and compared with the laboratory test results. The results show that (1) the residual strength ratio of jointed rock samples generally increases first and then decreases with the increase in joint dip angles under the same confining pressure and reaches the maximum value around 23-24°.

Evaluation of Pharmacokinetics, Immunogenicity, and Immunotoxicity of DNA Tetrahedral and DNA Polymeric Nanostructures.

Deoxyribonucleic acid (DNA) nanostructures have been extensively explored in biomedical applications and have emerged as a promising platform for drug delivery, bioanalysis, and therapeutics. Their in vivo behaviors have received much attention, a prerequisite for clinical applications. Herein, the pharmacokinetics, immunogenicity, and immunotoxicity of two representative DNA nanostructures: DNA tetrahedron (TDN) and DNA nanoparticle (DNP) are studied.

Predictive nomogram for hearing deficits after microvascular decompression treatment.

We explored the impact of brainstem auditory evoked potentials monitoring, as well as anatomical characteristics, in relation to their influence on hearing deficits. A total of 851 patients diagnosed with idiopathic hemifacial spasm underwent microvascular decompression treatment were recruited in our study. A nomogram was developed based on the regression analysis.

Global changes of miRNA expression indicates an increased reprogramming efficiency of induced mammary epithelial cells by repression of miR-222-3p in fibroblasts.

Background: Our previous studies have successfully reported the reprogramming of fibroblasts into induced mammary epithelial cells (iMECs). However, the regulatory relationships and functional roles of MicroRNAs (miRNAs) in the progression of fibroblasts achieving the cell fate of iMECs are insufficiently understood.

Methods: First, we performed pre-and post-induction miRNAs sequencing analysis by using high-throughput sequencing.

Photodynamic antibacterial research on hypericin-loaded PEGylated mesoporous silica delivery system.

In this study, a novel drug delivery system (MSN-PEG-Hypericin) was successfully fabricated using tetraethyl orthosilicate and 3-aminopropyltriethoxysilane as raw materials, and the PEGylation of the prepared aminated mesoporous silica and grafting of hypericin onto the carrier were further conducted to obtain MSN-PEG-Hypericin. The successful preparation of MSN-PEG-Hypericin was characterized by several physical-chemical techniques. Furthermore, the MSN-PEG-Hypericin system increased the ability of hypericin to generate reactive oxygen species (ROS) .

A multifunctional protein-based hydrogel with Au nanozyme-mediated self generation of HS for diabetic wound healing.

Diabetics usually suffer from chronic impaired wound healing due to facile infection, excessive inflammation, diabetic neuropathy, and peripheral vascular disease. Hence, the development of effective diabetic wound therapy remains a critical clinical challenge. Hydrogen sulfide (HS) regulates inflammation, oxidative stress, and angiogenesis, suggesting a potential role in promoting diabetic wound healing.

Building Uniformly Structured Polymer Memristors via a 2D Conjugation Strategy for Neuromorphic Computing.

Polymer memristors represent a highly promising avenue for the advancement of next-generation computing systems. However, the intrinsic structural heterogeneity characteristic of most polymers often results in organic polymer memristors displaying erratic resistive switching phenomena, which in turn lead to diminished production yields and compromised reliability. In this study, a 2D conjugated polymer, named PBDTT-BPQTPA, is synthesized by integrating the coplanar bis(thiophene)-4,8-dihydrobenzo[1,2-b:4,5-b]dithiophene (BDTT) as an electron-donating unit with a quinoxaline derivative serving as an electron-accepting unit.

Amplification of Oxygen-Independent Free Radicals Based on a Glutathione Depletion and Biosynthesis Inhibition Strategy for Photothermal and Thermodynamic Therapy of Hypoxic Tumors.

Thermodynamic therapy (TDT) based on oxygen-independent free radicals exhibits promising potential for the treatment of hypoxic tumors. However, its therapeutic efficacy is seriously limited by the premature release of the drug and the free radical scavenging effect of glutathione (GSH) in tumors. Herein, we report a GSH depletion and biosynthesis inhibition strategy using EGCG/Fe-camouflaged gold nanorod core/ZIF-8 shell nanoparticles embedded with azo initiator 2,2'-azobis[2-(2-imidazolin-2-yl) propane] dihydrochloride (AIPH) and L-buthionine-sulfoximine (BSO) for tumor-targeting photothermal (PTT) and thermodynamic therapy (TDT).

Paternal preconception alcohol consumption increased Angiotensin II-mediated vasoconstriction in male offspring cerebral arteries via oxidative stress-AT1R pathway.

Alcohol consumption is popular worldwidely and closely associated with cardiovascular diseases. Influences of paternal preconception alcohol consumption on offspring cerebral arteries are largely unknown. Male rats were randomly given alcohol or water before being mated with alcohol-naive females to produce alcohol- and control-sired offspring.

Forskolin-driven conversion of human somatic cells into induced neurons through regulation of the cAMP-CREB1-JNK signaling.

Human somatic cells can be reprogrammed into neuron cell fate through regulation of a single transcription factor or application of small molecule cocktails. Here, we report that forskolin efficiently induces the conversion of human somatic cells into induced neurons (FiNs). A large population of neuron-like phenotype cells was observed as early as 24-36 h post-induction.

MCM6 Inhibits Decidualization via Cross-Talking with ERK Pathway in Human Endometrial Stromal Cells.

Decidualization plays an important role in the implantation of the embryo, but the molecular action implicated in this process is not completely known. Herein, we found that, compared with the proliferative endometrial tissues, the expression of minichromosome maintenance complex component 6 (MCM6) was markedly decreased in the secretory endometrial tissues. To verify the function of MCM6 in decidualization, in vitro decidualization model was constructed by treating human endometrial stromal cells (HESCs) with estrogen (E2) and progesterone (P4).

Fluorescence and colorimetric dual-mode multienzyme cascade nanoplatform based on CuNCs/FeMn-ZIF-8/PCN for detection of sarcosine.

It is critical to develop a highly efficient and sensitive method for detecting the biomarker sarcosine (SA) of prostate cancer due to its importance for men's health. In our work, a fluorescence (FL) and colorimetric dual-mode multienzyme cascade nanoplatform for SA detection was designed and constructed. CuNCs/FeMn-ZIF-8/PCN nanocomposites with high FL properties and peroxidase-like activity were successfully prepared by encapsulating copper nanoclusters (CuNCs) into FeMn-ZIF-8 and then loaded onto P-doped graphitic carbon nitride (PCN).

An ultrasensitive unlabeled electrochemical immunosensor for the detection of cardiac troponin I based on Pt/Au-B,S,N-rGO as the signal amplification platform.

In this study, an ultrasensitive unlabeled electrochemical immunosensor for the detection of cardiac troponin I (cTnI) was developed based on Pt/Au modified B,S,N co-doped reduced graphene oxide (Pt/Au-B,S,N-rGO) as a signal amplification platform. First-principles calculations were employed to analyze the electron density of states of Pt/Au-B,S,N-rGO, revealing an increase in the electron density of the graphene oxide (GO) states. Furthermore, scanning electron microscopy (SEM), X-ray photoelectron diffraction spectroscopy (XPS), and electrochemical detection were used to successfully construct and analyze Pt/Au-B,S,N-rGO.

A novel competitive fluorescence colorimetric dual-mode immunosensor for detecting ochratoxin A based on the synergistically enhanced peroxidase-like activity of AuAg NCs-SPCN nanocomposite.

The sensitive and rapid detection of Ochratoxin A in foods is particularly urgent for ensuring human security due to its larger toxicity to the body. Herein, a novel competitive fluorescence colorimetric dual-mode immunosensor for detecting Ochratoxin A based on AuAg NCs-SPCN nanocomposite was designed and constructed. The synergistic effect of SPCN and AuAg NCs dramatically improved the nanozyme activity.

Attenuates reactive oxygen species: induced pyroptosis via activation of the Nrf2/HO-1 signal pathway in models of trigeminal neuralgia.

In this study, we examined the impact of demyelinating and neuroinflammation on trigeminal neuralgia (TN) by utilizing models of chronic constriction injury to the infraorbital nerve (CCI). The CCI rats were treated with either VX-765 (an inhibitor of caspase-1) or a control solution of PBS/DMSO to observe the effects on neurobehavioral and neuropathological outcomes. The histochemical changes, pyroptosis-related proteins were assessed using immunohistochemistry, Elisa, and western blotting.

Co-delivery of minoxidil and tocopherol acetate ethosomes to reshape the hair Follicular Microenvironment and promote hair regeneration in androgenetic alopecia.

The most prevalent kind of hair loss is androgenic alopecia (AGA), which is characterized by hair follicle miniaturization and microenvironment dysfunction. Although topical Minoxidil (MXD) was considered to be a safe and effective treatment for AGA, excess reactive oxygen species (ROS) and lower sulfotransferase activity in the hair follicular microenvironment led to an unsatisfactory treatment of AGA. Here, we developed the ethosome (MTE) load of minoxidil and tocopherol acetate to improve the therapeutic effect of MXD on androgenic alopecia.

Long-chain noncoding RNA sequencing analysis reveals the molecular profiles of chemically induced mammary epithelial cells.

Long noncoding RNAs (lncRNAs) were important regulators affecting the cellular reprogramming process. Previous studies from our group have demonstrated that small molecule compounds can induce goat ear fibroblasts to reprogram into mammary epithelial cells with lactation function. In this study, we used lncRNA-Sequencing (lncRNA-seq) to analyze the lncRNA expression profile of cells before and after reprogramming (CK vs.

Prediction Model for Unfavorable Outcome in Spontaneous Intracerebral Hemorrhage Based on Machine Learning.

Objective: The spontaneous intracerebral hemorrhage (ICH) remains a significant cause of mortality and morbidity throughout the world. The purpose of this retrospective study is to develop multiple models for predicting ICH outcomes using machine learning (ML).

Methods: Between January 2014 and October 2021, we included ICH patients identified by computed tomography or magnetic resonance imaging and treated with surgery.

Dissecting the molecular trajectory of fibroblast reprogramming to chemically induced mammary epithelial cells.

The plasticity of cell identity allows cellular reprogramming that manipulates the lineage of cells to generate the target cell types, bringing new avenues for disease modeling and autologous tailored cell therapy. Previously, we had already successfully established a technical platform for inducing fibroblast reprogramming to chemically induced mammary epithelial cells (CiMECs) by small-molecule compounds. However, exactly how the molecular mechanism driving the lineage conversion remains unknown.