Intestinal Goblet Cell-Expressed Reg4 Ameliorates Intestinal Inflammation Potentially by Restraining Pathogenic Escherichia coli Infection.

An elevated abundance of Escherichia coli (E. coli) has been linked to the onset and progression of inflammatory bowel disease (IBD). Regenerating islet-derived family member 4 (Reg4) has been isolated from patients with ulcerative colitis (UC), but its functions and involved mechanisms in intestinal inflammation are remain incompletely understood.

Therapeutic potential of isoallolithocholic acid in methicillin-resistant Staphylococcus Aureus peritoneal infection.

A significant increase in multidrug-resistant Methicillin-resistant Staphylococcus aureus (MRSA) infections has made it crucial to explore new antimicrobial drugs and strategies. Emerging evidence suggests that the bile acid metabolite isoallolithocholic acid (isoallo-LCA) may contribute to reducing the risk of infection among centenarians. However, its precise role remains somewhat ambiguous and necessitates further investigation.

Neurotensin contributes to cholestatic liver disease potentially modulating matrix metalloprotease-7.

The diagnosis and treatment of biliary atresia pose challenges due to the absence of reliable biomarkers and limited understanding of its etiology. The plasma and liver of patients with biliary atresia exhibit elevated levels of neurotensin. To investigate the specific role of neurotensin in the progression of biliary atresia, the patient's liver pathological section was employed.

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Background: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction.

Methods: Clinical, biochemical, genetic, treatment, and follow-up data for 11 pediatric patients with FBS were retrospectively analysed.

Results: Hepatomegaly (10/11), short stature (10/11) and hypophosphataemic rickets (7/11) were the most common initial symptoms.

The efficacy of extracted Tanshinone compounds for infantile hemangiomas of the skin: results from a pilot study.

Background: Infantile hemangiomas (IHs) on skin are conventionally treated with beta blockers, pulsed dye laser (PDL), or surgery, either invasive or limited to clinical conditions. Our preclinical studies suggested that Tanshinone, extracted from (Tanshin), had a beneficial effect on IHs. Thus, we conducted a pilot clinical study to evaluate the safety and efficacy of topical Tanshinone compounds on superficial IHs.

Farnesoid X receptor agonist tropifexor detoxifies ammonia by regulating the glutamine metabolism and urea cycles in cholestatic livers.

Hyperammonemia refers to elevated levels of ammonia in the blood, which is an important pathological feature of liver cirrhosis and hepatic failure. Preclinical studies suggest tropifexor (TXR), a novel non-bile acid agonist of Farnesoid X Receptor (FXR), has shown promising effects on reducing hepatic steatosis, inflammation, and fibrosis. This study evaluates the impact of TXR on hyperammonemia in a piglet model of cholestasis.

Loss of Mptx2 alters bacteria composition and intestinal homeostasis potentially by impairing autophagy.

A recent single-cell survey of the small-intestinal epithelium suggests that mucosal pentraxin 2 (Mptx2) is a new Paneth cell marker, but its function and involved mechanism in the Paneth cell are still unknown. Therefore, we create Mptx2 knockout (Mptx2) mice to investigate its precise effects on intestinal homeostasis using models of lipopolysaccharide (LPS), methicillin-resistant Staphylococcus aureus (MRSA) peritoneal infection, and dextran sulfate sodium (DSS)-induced intestinal injury and inflammation. We here find that Mptx2 is selectively expressed in Paneth cells in the small intestines of mice.

Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.

Background: Lipoprotein lipase (LPL) deficiency, the most common familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disease characterized by chylomicronemia and severe hypertriglyceridemia (HTG), with limited clinical and genetic characterization.

Objective: To describe the manifestations and management of 19 pediatric patients with LPL-FCS.

Methods: LPL-FCS patients from 2014 to 2022 were divided into low-fat (LF), very-low-fat (VLF) and medium-chain-triglyceride (MCT) groups.

Contribution of and the HLA Genes to Biliary Atresia Risk in Chinese.

Nonsyndromic biliary atresia (BA) is a rare polygenic disease, with autoimmunity, virus infection and inflammation thought to play roles in its pathogenesis. We conducted a genome-wide association study in 336 nonsyndromic BA infants and 8900 controls. Our results validated the association of rs17095355 in with BA risk (odds ratio (OR) = 1.

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Background: cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-onset cblC defect.

Conserved Covarying Gut Microbial Network in Preterm Infants and Childhood Growth During the First 5 Years of Life: A Prospective Cohort Study.

Background: Longitudinally conserved microbe-microbe interactions may provide insights to understand the complex dynamic system of early-life gut microbiota among preterm infants.

Objectives: We aimed to profile the covarying network of gut microbiota among preterm infants and investigate its potential influence on host growth (2-5 y).

Methods: We collected time-series stool samples (n = 717 from children and n = 116 from mothers) among 51 preterm and 51 full-term infants from birth up to 5 y of age and among 53 mothers.

[Research progress on the prognosis of patients with various types of Methylmalonic acidemia].

Methylmalonic acidemia (MMA) is a series of rare inherited organic acid metabolic disorders with variable and nonspecific clinical manifestations, in particular neurological symptoms such as vomiting, lethargy, etc. Even with timely treatment, patients may still have various degrees of neurological complications and can even die. The prognosis is mainly related to the type of genetic variants, level of metabolites, newborn screening, onset of disease and early initiation of treatment.

Association analysis and functional follow-up identified common variants of accounting for risk to biliary atresia.

Biliary atresia (BA) is a destructive, obliterative cholangiopathy characterized by progressive fibro-inflammatory disorder and obliteration of intra- and extrahepatic bile ducts. The () gene mutations have been found in some isolated BA cases. We aim to explore the association of common variants in with isolated BA risk in the Chinese Han population.

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.

Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency without mineralocorticoid deficiency. We report 3 Chinese patients with or mutations.

Case Reports: Patient 1 presented with hyperpigmentation.

P300 Interacted With N-Myc and Regulated Its Protein Stability via Altering Its Post-Translational Modifications in Neuroblastoma.

MYCN amplification is an independent risk factor for poor prognosis in neuroblastoma (NB), but its protein product cannot be directly targeted because of protein structure. Thus, this study aimed to explore novel ways to indirectly target N-Myc by regulating its post-translational modifications (PTMs) and therefore protein stability. N-Myc coimmunoprecipitation combined with HPLC-MS/MS identified 16 PTM residues and 114 potential N-Myc-interacting proteins.

Host-Guest Self-Assembled Interfacial Nanoarrays for Precise Metabolic Profiling.

Accurate and rapid metabolic profiling of cerebrospinal fluid (CSF) is urgently needed but remains challenging for clinical diagnosis of central nervous system diseases and biomarker discovery. Matrix-assisted laser desorption ionization mass spectrometry (MALDI-MS) holds promise for metabolic analysis. Its low signal reproducibility, however, severely restricts acquisition of quantitative MS data in clinical practice.

Newborn screening for genetic disorders: Current status and prospects for the future.

Newborn screening (NBS) is a public health service aimed at identifying infants with severe genetic disorders, thus providing effective treatment early enough to prevent or ameliorate the onset of symptoms. Current NBS uses biochemical analysis of dried blood spots, predominately with time-resolved fluorescence immunoassay and tandem mass spectrometry, which produces some false positives and false negatives. The application of enzymatic activity-based testing technology provides a reliable screening method for some disorders.

Single-Particle Optical Imaging for Ultrasensitive Bioanalysis.

The quantitative detection of critical biomolecules and in particular low-abundance biomarkers in biofluids is crucial for early-stage diagnosis and management but remains a challenge largely owing to the insufficient sensitivity of existing ensemble-sensing methods. The single-particle imaging technique has emerged as an important tool to analyze ultralow-abundance biomolecules by engineering and exploiting the distinct physical and chemical property of individual luminescent particles. In this review, we focus and survey the latest advances in single-particle optical imaging (OSPI) for ultrasensitive bioanalysis pertaining to basic biological studies and clinical applications.

The association between parenteral nutrition and pancreatic injury in adult patients: a retrospective observational study.

Background And Objective: Patients on parenteral nutrition (PN) are at high risk of both liver and pancreatic injury. More efforts were focused on liver, however, limited data is available to evaluate the effects of PN on pancreas. Thus, we performed a retrospective observational study to evaluate the association between PN and pancreatic injury in Chinese adult patients.

Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools.

Variant prioritization is a crucial step in the analysis of exome and genome sequencing. Multiple phenotype-driven tools have been developed to automate the variant prioritization process, but the efficacy of these tools in clinical setting with fuzzy phenotypic information and whether ensemble of these tools could outperform single algorithm remains to be assessed. A large rare disease cohort with heterogeneous phenotypic information, including a primary cohort of 1614 patients and a replication cohort of 1904 patients referred to exome sequencing, were recruited to assess the efficacy of variant prioritization and their ensemble.

Reg4 protects against Salmonella infection-associated intestinal inflammation via adopting a calcium-dependent lectin-like domain.

Salmonella Typhimurium (S. Tm) is Gram-negative flagellated bacteria that can cause food-borne gastroenteritis and diarrhea in human. Developing efficacious methods against Salmonella infection is still challenged.

Heterozygous Actg2 mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.

Background: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and serious congenital disorder with poor outcomes, where a heterozygous missense mutation is present in the ACTG2 gene. Here, we aimed to investigate the pathogenesis of ACTG2 in MMIHS.

Methods: A cohort with 20 patients with MMIHS was screened.

Sleep duration of lactating mothers and its relationship with feeding pattern, milk macronutrients and related serum factors: A combined longitudinal cohort and cross-sectional study.

Objective: Insufficient sleep is common in postpartum mothers. The main objectives of this study are to explore the sleep duration among Chinese lactating mothers and preliminarily investigate the relationship between sleep duration and feeding pattern. The secondary objectives are to investigate the relationships between sleep duration and milk macronutrients and between maternal-related indicators, including melatonin (MT), growth hormone (GH), ghrelin (GHRL), glucagon-like peptide-1 (GLP-1), prolactin (PRL), and cholecystokinin (CCK).