Abdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report.

Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.

Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.

De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.

Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.

Long Non-Coding RNAs in Diabetic Cardiomyopathy: Potential Function as Biomarkers and Therapeutic Targets of Exercise Training.

Recent studies emphasize the beneficial effects of exercise on diabetic cardiomyopathy (DCM), adding to the growing body of evidence that underscores the role of exercise in improving health outcomes. Despite this, a notable gap persists in the number of healthcare providers who actively prescribe exercise as a therapeutic intervention for DCM management. In addition, exercise modulates the expression of lncRNAs, which play a pivotal role in DCM progression.

Selpercatinib in Chinese patients with -fusion-positive non-small-cell lung cancer: updated efficacy and safety analysis from the randomized LIBRETTO-321 phase II trial.

Background: Selpercatinib is approved for the treatment of -fusion-positive non-small-cell lung cancer (NSCLC).

Objective: We present a final update on LIBRETTO-321 to enhance the understanding of long-term efficacy and safety in Chinese patients.

Design: This open-label, multicenter, phase II study included patients with advanced -altered solid tumors.

Tumor burden with AFP improves survival prediction for TACE-treated patients with HCC: An international observational study.

Background & Aims: Current prognostic models for patients with hepatocellular carcinoma (HCC) undergoing transarterial chemoembolization (TACE) are not extensively validated and widely accepted. We aimed to develop and validate a continuous model incorporating tumor burden and biology for individual survival prediction and risk stratification.

Methods: Overall, 4,377 treatment-naive candidates for whom TACE was recommended, from 39 centers in five countries, were enrolled and divided into training, internal validation, and two external validation datasets.

Abnormalities in cerebellar subregions' volume and cerebellocerebral structural covariance in autism spectrum disorder.

The cerebellum plays a crucial role in functions, including sensory-motor coordination, cognition, and emotional processing. Compared to the neocortex, the human cerebellum exhibits a protracted developmental trajectory. This delayed developmental timeline may lead to increased sensitivity of the cerebellum to external influences, potentially extending the vulnerability period for neurological disorders.

Hydroxychloroquine enhances insulin sensitivity and ameliorates abnormal lipid metabolism in obese women with polycystic ovary syndrome.

Background: Hydroxychloroquine (HCQ) is frequently utilized in rheumatic immune disorders and has been discovered to exert hypoglycemic effects in some obese women with polycystic ovary syndrome(PCOS), however, the precise efficacy and mechanism of action remain ambiguous.

Objective: To examine the impact of HCQ on glucose and lipid metabolism as well as sex hormone levels in obese women with PCOS.

Method: Fifty obese women with PCOS were randomly allocated into two groups: HCQ group (n = 25) and metformin (MET) group (n = 25).

Notch2 Inhibition and Kidney Cyst Growth in Autosomal Dominant Polycystic Kidney Disease.

Background: Notch signaling, a conserved mechanism of cell-to-cell communication, plays a crucial role in regulating cellular processes such as proliferation and differentiation in a context-dependent manner. However, the specific contribution of Notch signaling to the progression of polycystic kidney disease (PKD) remains unclear.

Methods: We investigated the changes in Notch signaling activity (Notch1-4) in the kidneys of autosomal dominant PKD (ADPKD) patients and two ADPKD mouse models (early and late onset).

Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.

Diagnosis and treatment experience of cecal diverticulitis in six pediatric patients.

Objective: This study aims to summarize the clinical characteristics, diagnostic methods, and treatment experience of cecal diverticulitis in children.

Method: The clinical data of six pediatric patients with cecal diverticulitis, treated at Children's Hospital Affiliated to Shandong University from November 2021 to May 2023, were retrospectively analyzed.

Result: All patients presented with abdominal pain primarily in the lower right abdomen.

The antitumor mechanisms of glabridin and drug delivery strategies for enhancing its bioavailability.

Glabridin, a flavonoid derived from the plant , has garnered significant attention due to its diverse pharmacological effects, including antioxidant, antibacterial, anti-inflammatory, hypolipidemic, and hypoglycemic activities. Studies have shown that glabridin exhibits substantial antitumor activity by modulating the proliferation, apoptosis, metastasis, and invasion of cancer cells through the targeting of various signaling pathways, thus indicating its potential as a therapeutic agent for malignant tumors. To enhance its solubility, stability, and bioavailability, several drug delivery systems have been developed, including liposomes, cyclodextrin inclusion complexes, nanoparticles, and polymeric micelles.

Gallstones, cholecystectomy, and cancer risk: an observational and Mendelian randomization study.

This study aimed to comprehensively examine the association of gallstones, cholecystectomy, and cancer risk. Multivariable logistic regressions were performed to estimate the observational associations of gallstones and cholecystectomy with cancer risk, using data from a nationwide cohort involving 239 799 participants. General and gender-specific two-sample Mendelian randomization (MR) analysis was further conducted to assess the causalities of the observed associations.

Effectiveness and compliance of telemedicine on blood pressure management in poststroke patients: a systematic review and meta-analysis of randomised controlled trials.

Objective: To examine the effectiveness of telemedicine on blood pressure control and compliance.

Design: Systematic review and meta-analysis.

Data Sources: A search of PubMed, Web of Science, Embase and Cochrane Library for studies of randomised controlled trials (RCTs) of telemedicine on blood pressure control in poststroke survivors from the time of their construction until November 2023.

ACE Loss Drives Renal Cell Carcinoma Growth and Invasion by Modulating AKT-FOXO1.

Purpose: Emerging literature links the role of the renin-angiotensin-aldosterone system (RAAS) to the progression of cancers. However, the function of RAAS has not been verified in Clear-cell renal cell carcinoma (ccRCC).

Methods: ACE expression in ccRCC tissues was determined using RT-PCR, Western blot, and immunohistochemistry staining.

STEAP3-SLC39A8-mediated microglia ferroptosis involved in neurotoxicity in rats after exposure to lead and cadmium combined.

The exposure of humans and animals to environmental compounds is rarely restricted to a single chemical. Unfortunately, very few studies were conducted to determine cadmium and lead combined effect. The aim of this study was to clarify the neurotoxicity induced by combined exposure to lead and cadmium and its mechanism of action.

A predictive model for Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

Background: Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH) is a severe hyperinflammatory disorder induced by overactivation of macrophages and T cells. This study aims to identify the risk factors for the progression from infectious mononucleosis (EBV-IM) to EBV-HLH, by analyzing the laboratory parameters of patients with EBV-IM and EBV-HLH and constructing a clinical prediction model. The outcome of this study carries important clinical value for early diagnosis and treatment of EBV-HLH.

Exosomal miR-320d promotes angiogenesis and colorectal cancer metastasis via targeting GNAI1 to affect the JAK2/STAT3 signaling pathway.

Colorectal cancer is a common malignant tumor, whose growth and metastasis are influenced by numerous factors. MicroRNAs have garnered increasing attention in recent years due to their involvement in tumor development. Exosomes are involved in intercellular signaling and influence tumor development by promoting tumor cell proliferation and metastasis through activation of angiogenesis and other mechanisms.

Comparing unilateral and bilateral cerebral perfusion during total arch replacement for acute type A aortic dissection.

Objectives: To assess the effects of unilateral versus bilateral antegrade cerebral perfusion (u-ACP vs. b-ACP) on postoperative complications and mid-term follow-up results in Asian patients with acute type A aortic dissection (ATAAD) undergoing total arch replacement (TAR) + the frozen elephant trunk (FET).

Methods: Clinical baseline data and postoperative complications of 702 ATAAD patients undergoing TAR + FET at China Cardiovascular Centre Fuwai Hospital between January 2019 and December 2022 were collected.

The Latest Progress in the Application of Telitacicept in Autoimmune Diseases.

Introduction: Humoral immunity plays a key role in the pathogenesis of autoimmune diseases, and B-lymphocyte activating factor (BAFF) and a proliferation-inducing ligand (APRIL) are essential for the maintenance of B-lymphocyte reservoirs and humoral immunity. In March 2021, telitacicept, the world's first dual target three-channel biologic, was approved in China for the treatment of SLE and is currently in clinical trials exploring multiple indications for other autoimmune diseases.

Areas Covered: This article summarizes the mechanism of action, pharmacokinetics, and clinical efficacy of telitacicept for the treatment of multiple autoimmune diseases.

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Rationale: Koolen-De Vries syndrome (KdVS, OMIM: 612452), also known as 17q21.31 microdeletion syndrome, is an autosomal dominant genetic disease. In the study, we analyze of clinical phenotype and gene variation of a child with Koolen-De Vries syndrome, review the literature to improve the understanding of the disease.