Clinical Manifestations of Tuberous Sclerosis: A Retrospective Analysis of 20 Cases.

Introduction: Tuberous sclerosis (TSC) is an autosomal dominant genetic disorder with a wide range of clinical manifestations. This study aimed to retrospectively analyze the clinical records of TSC patients, focusing on the first onset times and age ranges for various symptoms.

Methods: The clinical data of TSC patients were analyzed retrospectively, including general information, clinical manifestations, and treatment plans, with particular attention to the first onset times and age ranges for different symptoms.

Targeted degradation of DDR1 by proteolytic targeting chimera reverses immune exclusion for tumor immunotherapy.

The formation of immune exclusion microenvironment restricts the infiltration of immune cells into the core of tumors. The extracellular domain of the discoidin domain receptor tyrosine kinase 1 (DDR1) protein plays a pivotal role in this process by aligning collagen fibers to remodel the extracellular matrix (ECM), thereby excluding immune cells. Targeted degradation of DDR1 represents a promising approach to suppress the catalytic functions of the protein and remodel the extracellular matrix of DDR1-related tumors.

Dual-regulation biomimetic composite nerve scaffold with oriented structure and conductive function for skin peripheral nerve injury repair.

Skin peripheral nerve injury repair still faces significant clinical challenges. Although nerve tissue engineering scaffolds show potential, issues such as limited functionality and low repair efficiency persist. This study developed a dual-regulation biomimetic composite nerve scaffold with oriented structure and conductive function to promote nerve injury repair.

Correlation of sdLDL-C and Apob with the degree of cerebral artery stenosis in posterior circulation stroke.

Small and dense LDL cholesterol (sdLDL-C) and apolipoprotein B (ApoB) have important roles in promoting the development of atherosclerosis and are highly correlated with the degree of atherosclerosis. Several studies have found differences in anterior and posterior circulation strokes and in the mechanisms of their atherosclerosis, but little research has been done on the relationship of sdLDL-C and ApoB to atherosclerotic stenosis in anterior and posterior circulation strokes. We analyzed the correlation between sdLDL-C and ApoB and the degree of arterial stenosis in patients with posterior circulation stroke.

Current status and influencing factors of pediatric clinical nurses' scientific research ability: a survey.

Background: Enhancing the research abilities of clinical nurses is a pivotal aspect of nursing management. The purpose of this survey is to assess the current state of research abilities among pediatric nurses and to identify the associated influencing factors, thereby providing empirical support for the improvement of research competencies in pediatric nurses.

Methods: Pediatric clinical nurses at a tertiary children's hospital in Nanjing, China from May 1st to 31st, 2024 were included for survey.

Freeze-Thaw Imaging for Microorganism Classification Assisted with Artificial Intelligence.

Fast and cost-effective microbial classification is crucial for clinical diagnosis, environmental monitoring, and food safety. However, traditional methods encounter challenges including intricate procedures, skilled personnel needs, and sophisticated instrumentations. Here, we propose a cost-effective microbe classification system, also termed freeze-thaw-induced floating pattern of AuNPs (FTFPA), coupled with artificial intelligence, which is capable of identifying microbes at a cost of $0.

Artificial intelligence enhanced microfluidic system for multiplexed point-of-care-testing of biological thiols.

Cysteamine (CA) serves as a cystine-depleting agent employed in the management of cystinosis and a range of other medical conditions. Monitoring blood CA levels at the point of care is imperative due to the risk of toxicity associated with elevated CA dosages. An additional significant challenge is presented by the intricate composition of human plasma and the presence of various interfering biological thiols, which possess similar structures or properties.

Recent advances in centrifugal microfluidics for point-of-care testing.

Point-of-care testing (POCT) holds significant importance in the field of infectious disease prevention and control, as well as personalized precision medicine. The emerging microfluidics, capable of minimal reagent consumption, integration, and a high degree of automation, play a pivotal role in POCT. Centrifugal microfluidics, also termed lab-on-a-disc (LOAD), is a significant subfield of microfluidics that integrates crucial analytical steps onto a single chip, thereby optimizing the process and enabling high-throughput, automated analysis.

TaCDPK1-5A positively regulates drought response through modulating osmotic stress responsive-associated processes in wheat (Triticum aestivum).

Wheat TaCDPK1-5A plays critical roles in mediating drought tolerance through regulating osmotic stress-associated physiological processes. Calcium (Ca) acts as an essential second messenger in plant signaling pathways and impacts plant abiotic stress responses. This study reported the function of TaCDPK1-5A, a calcium-dependent protein kinase (CDPK) gene in T.

Machine learning identifies novel coagulation genes as diagnostic and immunological biomarkers in ischemic stroke.

Background: Coagulation system is currently known associated with the development of ischemic stroke (IS). Thus, the current study is designed to identify diagnostic value of coagulation genes (CGs) in IS and to explore their role in the immune microenvironment of IS.

Methods: Aberrant expressed CGs in IS were input into unsupervised consensus clustering to classify IS subtypes.

Cascade signal amplification strategy for the electrochemical aptasensing of nucleic acid: Combination of dual-output toehold-mediated DNA strand displacement, DNA walker and Exo III.

Background: Sensitive and selective analysis of low content nucleic acid sequences plays an important role in pathogen analysis, disease diagnosis and biomedicine. The electrochemical biosensor based on toehold-mediated strand displacement reaction (TMSD) is highly attractive in nucleic acid detection due to their improved sensitivity and rapid response. But the traditional TMSD carried out on the electrode always with low displacement efficiency and complicated electrode operation, resulting in compromised sensing performance.

Recent advances of NFATc1 in rheumatoid arthritis-related bone destruction: mechanisms and potential therapeutic targets.

Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease characterized by inflammation of the synovial tissue and joint bone destruction, often leading to significant disability. The main pathological manifestation of joint deformity in RA patients is bone destruction, which occurs due to the differentiation and proliferation of osteoclasts. The transcription factor nuclear factor-activated T cell 1 (NFATc1) plays a crucial role in this process.

The Progress of Poststroke Seizures.

A stroke is one of the most common fatal diseases of the nervous system, and the number of strokes per year has increased substantially in recent years. Epilepsy is a poststroke complication that greatly affects the prognosis of patients and reduces their quality of survival. Effective avoidance of causative factors can reduce the risk of a poststroke seizure.

A case report of acute intermittent porphyria leading to severe disability.

Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder resulting from increased production of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG), due to deficiencies in the enzymatic activity of the heme synthesis pathway. The disease is typically characterized by a triad of abdominal pain, neurologic impairment symptoms, and psychiatric abnormalities. However, only a small percentage of patients present with this classic triad of symptoms.

Tuberous sclerosis complex: a case report and literature review.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions.

Effectiveness of ultraviolet-C disinfection systems for reduction of multi-drug resistant organism infections in healthcare settings: A systematic review and meta-analysis.

This study aimed to summarise the findings of the studies assessing the effectiveness of ultraviolet C (UV-C) room disinfection in reducing the incidence rate of healthcare-associated multi-drug-resistant organism (MDRO) infections. A systematic screening was conducted using PubMed, EMBASE, and Scopus for randomised controlled trials (RCTs), quasi-experimental studies, and before-after studies, which assessed the efficacy of the UV-C disinfectant system in reducing the incidence of MDRO infections. A random-effects model was used for the analysis.

Advances in the mTOR signaling pathway and its inhibitor rapamycin in epilepsy.

Introduction: Epilepsy is one of the most common and serious brain syndromes and has adverse consequences on a patient's neurobiological, cognitive, psychological, and social wellbeing, thereby threatening their quality of life. Some patients with epilepsy experience poor treatment effects due to the unclear pathophysiological mechanisms of the syndrome. Dysregulation of the mammalian target of the rapamycin (mTOR) pathway is thought to play an important role in the onset and progression of some epilepsies.

An ingenious electrochemical aptasensor for detection of CYFRA 21-1 based on dual-output toehold mediated strand displacement reaction.

Herein, a "signal-on" electrochemical aptasensor based on dual-output toehold mediated strand displacement reaction (TMSDR) was developed to detect cytokeratin fragment antigen 21-1 (CYFRA 21-1). First, the methylene blue (MB) labeled signal probe (SP) was combined with a long template strand (TS) to form the three-strands duplex, which was immobilized on magnetic beads. The sequence of TS was innovatively designed with two toehold zones.

Long Noncoding RNA GUSBP11 Knockdown Alleviates Nasopharyngeal Carcinoma via Regulating miR-1226-3p/ Axis.

Long noncoding RNAs (lncRNAs) have been confirmed related to the occurrence and progress of multiple cancers, including cervical cancer nasopharyngeal carcinoma (NPC). This study focused on assessing GUSBP11 effects on NPC progression and exploring possible mechanisms. RT-qPCR was conducted for assessing GUSBP11 levels within NPC tissues and cells.

A cilia-independent function of BBSome mediated by DLK-MAPK signaling in C. elegans photosensation.

Bardet-Biedl syndrome (BBS) is a genetic disorder that affects primary cilia. BBSome, a protein complex composed of eight BBS proteins, regulates the structure and function of cilia, and its malfunction causes BBS in humans. Here, we report a cilia-independent function of BBSome.

An ultrasensitive label-free photoelectrochemical aptasensor based on terminal deoxynucleotidyl transferase amplification and catalytic reaction of G-quadruplex/hemin.

An ultrasensitive photoelectrochemical (PEC) analysis method based on terminal deoxynucleotidyl transferase (TdT) amplification effect and G-quadruplex/hemin (G4/hemin) catalytic reaction assisted signal amplification was prepared for the determination of ampicillin. A novel Au NPs@SnInS-graphene sensitized structure was used as photoactive material to attain an intense basic photocurrent. In the presence of the target, P1 obtained by strand displacement reaction was introduced into the electrode surface, and abundant G4/hemin was formed in the presence of TdT and hemin.

Susac syndrome with the typical clinical triad: A case report and literature review.

Susac syndrome is an immune-mediated microvascular disease characterized by the clinical triad of acute multiple encephalopathies, branch retinal artery occlusion, and sensorineural hearing loss. However, the typical clinical triad is not seen in all patients at disease onset. In this study, a 29-year-old male was admitted to our hospital due to aggravation of headache accompanied by retarded reaction.

Regulated bioanalysis of liposomal amphotericin B to support pharmacokinetic studies of liposomal drugs.

Because of the delicate nature of liposomes, bioanalysis of free and liposomal-encapsulated drugs is among the most challenging assays to perform. Current regulatory guidance for bioanalysis is not sufficient to address the complexity of this particular formulation. Three individual LC-MS/MS methods to quantify free amphotericin B (10-3000 ng/ml) and encapsulated amphotericin B (100-50,000 ng/ml) in pretreated human plasma and total amphotericin B (100-50,000 ng/ml) in human plasma were fully validated and applied to a bioequivalence study.