Report of one case with de novo mutation in TLK2 and literature review.

TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases. Herein, we reported a 5-year-old boy with TLK2 heterozygous mutation who presented distinctive facial features, gastrointestinal diseases, short stature, language delay, autism spectrum disorder, heart diseases, abnormal genitourinary system and skeletal abnormality.

Association between glycemia and outcomes of neonates with hypoxic-ischemic encephalopathy: a systematic review and meta-analysis.

Objectives: The research aimed to provide the most recent and comprehensive analysis and evidence update comparing outcomes in neonatal encephalopathy (NE) based on different glycemia levels.

Patients And Methods: A comprehensive search of Cochrane, PubMed, Embase, Web of Science, CNKI, and Wanfang databases was conducted until September 2023. The purpose was to identify research that examined the effects of hyperglycemia, hypoglycemia, and normoglycemia on NE outcomes.

CREB-induced LINC00473 promotes chemoresistance to TMZ in glioblastoma by regulating O6-methylguanine-DNA-methyltransferase expression via CEBPα binding.

Temozolomide (TMZ) offers substantial therapeutic benefits for glioblastoma (GB), yet its efficacy is hindered the development of chemoresistance. The role of long non-coding RNAs (lncRNAs) in tumorigenesis and chemoresistance has garnered great attention in studies on TMZ resistance. This study aimed to reveal the role of LINC00473 in TMZ chemoresistance and the underlying mechanism in GB.

Acetyl-CoA synthetase 2 promotes diabetic renal tubular injury in mice by rewiring fatty acid metabolism through SIRT1/ChREBP pathway.

Diabetic nephropathy (DN) is characterized by chronic low-grade renal inflammatory responses, which greatly contribute to disease progression. Abnormal glucose metabolism disrupts renal lipid metabolism, leading to lipid accumulation, nephrotoxicity, and subsequent aseptic renal interstitial inflammation. In this study, we investigated the mechanisms underlying the renal inflammation in diabetes, driven by glucose-lipid metabolic rearrangement with a focus on the role of acetyl-CoA synthetase 2 (ACSS2) in lipid accumulation and renal tubular injury.

Angiotensin II type 2 receptor prevents extracellular matrix accumulation in human peritoneal mesothelial cell by ameliorating lipid disorder via LOX-1 suppression.

Evidence suggests that intracellular angiotensin II type 1 receptor (AT1) contributes to peritoneal fibrosis (PF) under high glucose (HG)-based dialysates. It is generally believed that AT2 antagonisticly affects AT1 function. The aim of this study was to explore whether AT2 activation is beneficial for attenuating human peritoneal mesothelial cell (HPMC) injury due to HG.

[Calcium-sensing receptor promotes endotoxin-induced myocardial injury through the JNK pathway].

To investigate the effects of calcium-sensing receptor (CaSR) on the c-Jun N-terminal kinase (JNK) in myocardial injury induced by endotoxin. The endotoxic model of neonatal rats was made by intraperitoneal injection of LPS(5 mg/kg). Neonatal Wistar rats were randomly divided into 6 groups: ①control group (saline group), ②endotoxin (LPS) group, ③LPS + CaSR agonist group, ④LPS + CaSR inhibitor group, ⑤LPS + JNK inhibitor group, ⑥LPS + CaSR inhibitor + JNK inhibitor group.

Regulatory T Cells Accelerate the Repair Process of Renal Fibrosis by Regulating Mononuclear Macrophages.

Background: We aimed to investigate the mechanisms of renal fibrosis and explore the effect of CD4+CD25+Foxp3+ regulatory T cells (Treg) on renal fibrosis after the obstruction was removed.

Methods: Fifty-five C57BL/6 mice were randomly divided into three groups: the unilateral ureteral obstruction (UUO) group, the relief for unilateral ureteral obstruction (RUUO) group, and the RUUO+Treg group. Renal fibrosis indexes of RUUO mice were evaluated using hematoxylin and eosin (HE) and, Masson staining and immunohistochemistry after CD4+CD25+Treg cells were injected into the tail vein at the moment of recanalization.

Activation of the RAS contributes to peritoneal fibrosis via dysregulation of low-density lipoprotein receptor.

Peritoneal dialysis (PD)-related peritoneal fibrosis (PF) is characterized by progressive extracellular matrix (ECM) accumulation in peritoneal mesothelial cells (PMCs) during long-term use of high glucose (HG)-based dialysates. Activation of the renin-angiotensin system (RAS) has been shown to be associated with PF. The aim of this study was to explore the underlying mechanism of the RAS in HG-induced PF.

Valsartan ameliorates high glucose-induced peritoneal fibrosis by blocking mTORC1 signaling.

Our study provided new insight into the mechanism underlying the preservation of the peritoneum by valsartan. The results demonstrated that the mice receiving chronic high glucose (HG) peritoneal dialysis solution infusion showed a typical feature of peritoneal fibrosis (PF), as well as higher expression of α-smooth muscle actin (α-SMA) and collagen I. , HG increased the protein expression of α-SMA and collagen I in a dose-dependent manner, while valsartan significantly ameliorated these pathological changes.

Metabolomics-driven identification of perturbations in amino acid and sphingolipid metabolism as therapeutic targets in a rat model of anorexia nervosa disease using chemometric analysis and a multivariate analysis platform.

It is important to explore novel therapeutic targets and develop an effective strategy for the treatment of anorexia nervosa. In this work, serum samples were analyzed using ultra-performance liquid chromatography coupled with quadrupole time-of flight mass spectrometry (UPLC/Q-TOF MS) coupled with chemometric analysis and multivariate analysis to obtain the metabolites and their corresponding pathways. In addition, knock-in and knock-down of the key enzyme was performed to verify the reliability of the obtained metabolic pathway, which is closely associated with the anorexia nervosa pathomechanism and the potential targets.

Human papillomavirus vaccination and the risk of autoimmune disorders: A systematic review and meta-analysis.

Introduction: Human papillomavirus (HPV) vaccination has been proven to effectively protect against HPV infection and infection-associated cancer. However, there are concerns about the relationship between HPV vaccination and the risk of autoimmune disorders (ADs). Therefore, we performed a systematic review and meta-analysis to comprehensively evaluate the relationship between HPV vaccination and ADs risk.

Rapamycin inhibits peritoneal fibrosis by modifying lipid homeostasis in the peritoneum.

Peritoneal fibrosis (PF) is characterized by progressive accumulation of extracellular matrix (ECM) components in the peritoneum under high glucose conditions. Rapamycin has previously been shown to inhibit ECM accumulation of peritoneal mesothelial cells (PMCs) and prevent PF. Here we explored the undefined mechanisms by which rapamycin inhibits ECM accumulation of PMCs.

[Tea polyphenols delays human glomerular mesangial cells senescence induced by high glucose via regulating STAT3/miR-126/telomere signaling pathway activation].

The aim of this paper was to explore the effects and possible mechanisms in vitro of tea polyphenols (TP) delaying human glomerular mesangial cells (HGMCs) senescence induced by high glucose (HG). HGMCs were cultured in vitro and divided into the normal group (N, 5.5 mmol·L⁻¹ glucose), the mannitol group(MNT, 5.

Maternal and neonatal outcomes after exposure to ADHD medication during pregnancy: A systematic review and meta-analysis.

Purpose: Attention-deficit/hyperactivity disorder (ADHD) medications are used by increasing numbers of reproductive-age women. The safety of these medications during pregnancy has not been well described.

Methods: A systematic review and meta-analysis was performed to evaluate the adverse maternal and neonatal outcomes associated with exposure to ADHD medication during pregnancy.

Mammalian Target of Rapamycin Complex 1 Activation Disrupts the Low-Density Lipoprotein Receptor Pathway: A Novel Mechanism for Extracellular Matrix Accumulation in Human Peritoneal Mesothelial Cells.

Peritoneal fibrosis (PF) is characterized by progressive extracellular matrix (ECM) accumulation. Increasing evidence has suggested that ECM synthesis was increased in human peritoneal mesothelial cells (HPMCs) under high-glucose conditions, but the effects of high-glucose peritoneal dialysis solution (PDS) on ECM synthesis have not been fully elucidated. The aim of this study was to explore the potential mechanisms of high-glucose PDS-induced production of ECM in HPMCs.

Upregulation of MiR-126 Delays the Senescence of Human Glomerular Mesangial Cells Induced by High Glucose via Telomere-p53-p21-Rb Signaling Pathway.

Diabetic kidney disease (DKD) is a microvascular complication of type 2 diabetes. The study of DKD mechanisms is the most important target for the prevention of DKD. Renal senescence is one of the important pathogeneses for DKD, but the mechanism of renal and cellular senescence is unclear.

Genistein Improves the Major Depression through Suppressing the Expression of miR-221/222 by Targeting Connexin 43.

Objective: Recent studies have indicated the possibility that genistein may improve depression via regulating the expression of miR221/222. This study is to explore whether genistein could improve depression by altering miR-221/222 levels and investigate the possible mechanisms involved in the improvement effect of genistein.

Methods: The animal model of depression was established through unpredictable chronic mild stress.

Activation of the mTORC1 pathway by inflammation contributes to vascular calcification in patients with end-stage renal disease.

Background: Chronic inflammation plays an important role in the progression of vascular calcification (VC). This study was designed to explore the effects and underlying mechanisms of inflammation on VC in the radial arteries of patients with end-stage renal disease (ESRD) with arteriovenostomy.

Methods: Forty-eight ESRD patients were divided into control (n = 25) and inflammation groups (n = 23) according to plasma C-reactive protein (CRP) level.

[Effects of long-term fertilization on organic nitrogen fractions in aquic brown soil].

The purpose of present research was to investigate how different fertilization regimes altered soil organic nitrogen fractions and their inter-annual dynamics based on a series of long-term experiment (initiated at 1990), including: CK (non-fertilization); M (recycled pig manure); NPK (chemical fertilizer NPK); NPK + M (recycled pig manure with chemical fertilizer NPK). The results showed that soil organic nitrogen components under the different fertilization treatments presented contrastive patterns from the establishment the experiments to 2015. Generally, acid hydrolysable organic nitrogen content increased year by year.

Relationship between CaSRs and LPS-injured cardiomyocytes.

Objective: Calcium-sensing receptors (CaSRs) regulate systemic calcium homeostasis. Intracellular calcium concentration changes are initiating factors of endoplasmic reticulum stress and cell autophagy. Recent research has revealed that CaSRs play an important role in myocardial ischemia/reperfusion injury and other cardiovascular diseases.

Triptolide suppresses paraquat induced idiopathic pulmonary fibrosis by inhibiting TGFB1-dependent epithelial mesenchymal transition.

Idiopathic pulmonary fibrosis (IPF) and tumor are highly similar to abnormal cell proliferation that damages the body. This malignant cell evolution in a stressful environment closely resembles that of epithelial-mesenchymal transition (EMT). As a popular EMT-inducing factor, TGFβ plays an important role in the progression of multiple diseases.

Mechanisms and roles by which IRF-3 mediates the regulation of ORMDL3 transcription in respiratory syncytial virus infection.

Respiratory syncytial virus (RSV) is the leading cause of bronchiolitis in infancy, which is a major risk factor for recurrent wheezing and asthma. Orosomucoid 1-like protein 3 (ORMDL3) has been reported to associate with virus-triggered recurrent wheezing and asthma in children. However, little is known about how ORMDL3 is involved into RSV infection.

Cerebrospinal fluid neuron specific enolase, interleukin-1β and erythropoietin concentrations in children after seizures.

Purpose: In the present study, the levels of neuron-specific enolase (NSE), interleukin-1β (IL-1β), and erythropoietin (EPO) in cerebrospinal fluid (CSF) in children with idiopathic epilepsy were measured to illuminate the relationships between these markers with idiopathic epilepsy.

Methods: Eighty-five children from 6 months to 12.5 years of age with single, previously undiagnosed, and untreated idiopathic epilepsy were participated in this study.

Effects of continuous renal replacement therapy on serum cytokines, neutrophil gelatinase-associated lipocalin, and prognosis in patients with severe acute kidney injury after cardiac surgery.

The aim of our study was to evaluate the effect of continuous renal replacement therapy (CRRT) on serum cytokines, neutrophil gelatinase-associated lipocalin (NGAL), and prognosis in patients with severe acute kidney injury (AKI) following cardiac surgery. A total number of 153 patients with severe AKI following cardiac surgery were treated with CRRT. They were divided into the survival and non-survival groups.