Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives.

Skeletal muscle, constituting ~40% of body mass, serves as a primary effector for movement and a key metabolic regulator through myokine secretion. Hereditary myopathies, including dystrophinopathies (DMD/BMD), limb-girdle muscular dystrophies (LGMD), and metabolic disorders like Pompe disease, arise from pathogenic mutations in structural, metabolic, or ion channel genes, leading to progressive weakness and multi-organ dysfunction. Gene therapy has emerged as a transformative strategy, leveraging viral and non-viral vectors to deliver therapeutic nucleic acids.

Potential predictive value of myocardial strain and strain rate for late gadolinium enhancement in children with a history of Kawasaki disease.

Background: Kawasaki disease (KD) is an acute pediatric vasculitis with significant implications for coronary arteries and myocardium, potentially leading to long-term myocardial fibrosis. With the advancements in speckle tracking echocardiography (STE), ultrasound parameters have been shown to be reliable in the early detection of structural and functional myocardial abnormalities, thus mitigating some limitations of cardiac magnetic resonance imaging (MRI). Despite its gold standard status for assessing myocardial fibrosis, the application of cardiac magnetic resonance (CMR) with late gadolinium enhancement (LGE) in pediatrics is restricted.

Inflammatory reaction in the acute phase of Kawasaki disease may better predict chronic cardiac dysfunction than coronary artery lesions.

Background: Kawasaki disease (KD) is a pediatric acute vasculitis affecting the coronary arteries and cardiac tissues. Research has been conducted on the assessment of acute cardiac function in KD; however, chronic cardiac dysfunction remains understudied, particularly in terms of coronary artery lesion (CAL) grading and acute-phase inflammatory markers. This study aimed to assess the effect of CAL grading on chronic cardiac function in KD patients, and explore the association between CAL grading and acute-phase inflammatory markers.

Bioengineered Hydrogels for Restoring Cardiac Electronic Activity after Myocardial Infarction.

Myocardial infarction (MI) is a significant global public health challenge affecting millions of individuals every year. Cardiac tissue engineering (CTE), especially cardiac hydrogels, have emerged as a promising therapeutic strategy for MI. Formation of stiff and non-conductive fibrous scars in the infarcted area is a major cause of fatal ventricular arrhythmias and progressive heart failure.

Predictive value of lymphocyte-to-C-reactive protein ratio for predicting initial and repeated intravenous immunoglobulin resistance in a large cohort of Kawasaki disease: a prospective cohort study.

Lmphocyte-to-C-reactive protein ratio (LCR) has tremendous predictive power for diseases with similar pathogenesis to Kawasaki disease (KD). The evidence on the prognostic value of LCR for IVIG resistance, especially for repeated IVIG resistance in KD, remains scarce. We conducted a prospective cohort study comprising 1607 individuals with KD to evaluate the predictive value of LCR for both the initial and repeated IVIG resistance.

Single cell RNA-sequencing identified CCR7+/RELB+/IRF1+ T cell responding for juvenile idiopathic arthritis pathogenesis.

Background: To further explore the disease heterogeneity of different subtypes of Juvenile idiopathic arthritis (JIA) and analyze their pathogenesis mechanisms.

Method: The single-cell RNA sequencing (scRNA-seq) analysis of peripheral blood mononuclear cells (PBMCs) was carried out to investigate the disease heterogeneity and molecular mechanisms of immune responses in immune cells in JIA.

Result: In our study, we provided a immunological landscape of HLA-B27-positive JIA and HLA-B27-negative JIA immune cells at single cell RNA-Seq resolution.

Mass photometry as a fast, facile characterization tool for direct measurement of mRNA length.

Oligonucleotide integrity is a critical quality attribute for many new therapeutic modalities. Current assays often measure attributes such as length using capillary electrophoresis or liquid chromatography. The length is then corroborated with sequencing data to ensure oligonucleotide quality.

Whole-transcriptome sequencing in neural and non-neural tissues of a mouse model identifies miR-34a as a key regulator in SMA pathogenesis.

Spinal muscular atrophy (SMA) is a severe neurodegenerative disorder caused by deficiency of survival of motor neuron (SMN). While significant progress has been made in SMA therapy by rescuing SMN expression, limited knowledge about SMN downstream genes has hindered the development of alternative therapies. Here, we conducted whole-transcriptome sequencing of spinal cord, heart, and liver tissues of a severe SMA mouse model at early postnatal ages to explore critical coding and non-coding RNAs (ncRNAs).

Association between autoimmune disease and neurodevelopmental disorder: a Mendelian randomization analysis.

Introduction: Neurodevelopmental disorders such as attention deficit and disruptive behaviour disorders (ADHD), autism spectrum disorder (ASD), and schizophrenia have been increasingly prevalent recently. Previous research has demonstrated that inflammatory activity from autoimmune diseases is involved in neurological diseases. However, some studies question the association between inflammatory activities and neurodevelopmental disorders.

Di-(2-ethylhexyl)-phthalate disrupts mouse placental growth by regulating the cell cycle of mouse placental trophoblasts through the Trim38-p53 signaling axis.

Di-(2-ethylhexyl)-phthalate (DEHP) is a common endocrine disruptor that causes very serious environmental pollution. Recent studies have described that DEHP exerts detrimental effects on key processes of placental development, including implantation, differentiation, invasion, and angiogenesis. However, its effects on the proliferation of placental trophoblasts and related regulatory mechanisms remain elusive.

Alterations in bile acid metabolites associated with pathogenicity and IVIG resistance in Kawasaki disease.

Background: Kawasaki disease (KD) primarily affects children as an acute systemic vasculitis. Numerous studies indicated an elevated risk of cardiovascular disease due to metabolic disturbances. Despite this knowledge, the specific metabolic modes involved in KD remain unclear.

Antisense-mediated exon skipping targeting EZH2 suppresses tumor growth in a xenograft mouse model of hepatocellular carcinoma.

Enhancer of zeste homolog 2 (EZH2) catalyzes trimethylation of histone H3 at lysine 27 (H3K27me3), which promotes heterochromatin formation and gene silencing. Expression of EZH2 is frequently elevated in various malignancies, including hepatocellular carcinoma (HCC). Silencing of EZH2 has been pursued as a promising strategy to halt cancer progression.

Risk factors for predicting medium-giant coronary artery aneurysms in Kawasaki disease.

The objective of this study is to determine whether the data of blood profiles before and after therapy can be useful for predicting medium-giant coronary artery aneurysms (CAA) in patients with KD. In total, 1856 KD children from 2013 to 2022 were prospectively recruited. Serial blood samples on the day of initial IVIG infusion and 36-48 h thereafter were collected.

Infant Kawasaki disease complicated with supraventricular tachycardia: a case report and literature review.

Background: The occurrence of arrhythmias as a complication of Kawasaki disease (KD) is extremely rare. Moreover, previous literature showed a low incidence of arrhythmias during the acute phase of KD, and the majority occurred in the subacute and chronic phases. To date, we have found only 17 sporadically reported global cases in the available literature.

Brain anatomy differences in Chinese children who stutter: a preliminary study.

Background And Purpose: It is unknown the neural mechanisms of developmental stuttering (DS). The aim of this study was to investigate the changes in the structural morphology of the brain in Chinese children who stutter.

Methods: A case-control study was conducted to collect magnetic resonance imaging data from stuttering and non-stuttering children, thereby analyzing whole-brain gray matter volume and cortical morphological changes in stuttering children.

Cardiovascular complications in chronic active Epstein-Barr virus disease: a case report and literature review.

Background: Cardiovascular involvement is a rare but severe complication of Epstein-Barr virus (EBV) infections. Patients with chronic active EBV (CAEBV) are at increased risk of developing cardiovascular complications and have a poor prognosis. Here, we report the rare case of a pediatric patient with CAEBV and EBV- hemophagocytic lymphohistiocytosis (HLH) complicated with a giant coronary artery aneurysm (CAA) and thrombosis, a giant Valsalva sinus aneurysm, and ascending aorta dilation seven years after the disease onset.

Maternal exposure to bisphenol A induces congenital heart disease through mitochondrial dysfunction.

Congenital heart disease (CHD) represents a major birth defect associated with substantial morbidity and mortality. Although environmental factors are acknowledged as potential contributors to CHD, the underlying mechanisms remain poorly understood. Bisphenol A (BPA), a common endocrine disruptor, has attracted significant attention due to its widespread use and associated health risks.

Multipath joint ablation strategy for focal atrial tachycardia originating from patent foramen ovale: a case report.

Introduction: Focal atrial tachycardia (FAT) is predominant in the pediatric population. Recent research has identified cases of sustained FAT originating from the interatrial septum (IAS); a subset of cases presents a unique challenge, with foci originating from the peri-patent foramen ovale (peri-PFO), requiring specialized management during catheter ablation. Here, we present a rare case of peri-PFO-associated FAT that resulted in tachycardia-related cardiomyopathy and propose a comprehensive multipath joint strategy for the successful treatment of PFO-associated FAT.

Knowledge, Attitudes and Willingness of Caregivers of Preterm Infants Toward Autism: A Cross-Sectional Study.

Background: To examine the knowledge, attitudes and willingness of caregivers of preterm infants toward autism spectrum disorder (ASD).

Methods: This cross-sectional study was conducted from September to December 2022 at the Hospital and enrolled the caregivers of preterm infants. The final questionnaire, developed by the authors, included four dimensions: demographic data, knowledge (16 items), attitudes (10 items) and willingness (seven items).

Complement factor H drives idiopathic pulmonary fibrosis by autocrine C3 regulation, suppressing macrophage phagocytosis and enhancing fibrotic progression.

Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive interstitial lung disease with limited therapeutic options. In this study, we identified Complement Factor H (CFH) as a critical regulator in the pathogenesis of IPF, contributing to fibrotic progression through autocrine regulation of complement component C3 and suppression of macrophage phagocytosis. Transcriptomic analysis of IPF lung tissues revealed upregulation of CFH and enrichment of pro-fibrotic pathways, including M2 macrophage infiltration.

Metagenomic Analysis of Gut Microbiome of Persistent Pulmonary Hypertension of the Newborn.

Persistent pulmonary hypertension of the newborn (PPHN) is one of the most common diseases in the neonatal intensive care unit which severely affects neonatal survival. Gut microbes play an increasingly important role in human health, but there are rarely reported how gut microbiota contribute to PPHN. In our study, the metagenomic sequencing of feces from 12 PPHN's neonates and 8 controls were performed to expose the relation between neonatal gut microbes and PPHN disease.

The Predictive Value of Fibrinogen-to-Albumin Ratio for Predicting Intravenous Immunoglobulin Resistance in Kawasaki Disease: A Prospective Cohort Study.

Background: Predicting resistance to intravenous immunoglobulin (IVIG) in the treatment of Kawasaki disease (KD) remains a focus of research. Fibrinogen and albumin in systemic inflammation play an important role. This study aims to investigate the predictive value of fibrinogen to albumin ratio (FAR) for initial IVIG resistance in patients with KD.

Polyphenol-Nanoengineered Monocyte Biohybrids for Targeted Cardiac Repair and Immunomodulation.

Myocardial infarction is one of the leading cause of cardiovascular death worldwide. Invasive interventional procedures and medications are applied to attenuate the attacks associated with ischemic heart disease by reestablishing blood flow and restoring oxygen supply. However, the overactivation of inflammatory responses and unsatisfactory drug delivery efficiency in the infarcted regions prohibit functional improvement.