Generation of INS-jGCaMP7f knock-in Ca reporter human embryonic stem cell line, GZLe001-C, using CRISPR/Cas9-based gene targeting.

As a member of the single-fluorophore genetically encoded calcium indicators (GECIs), jGCaMP7f is widely applied to investigate intracellular Ca concentrations. Here, we established an INS-jGCaMP7f knock-in H1 human embryonic stem cell (hESC) line by integrating jGCaMP7f gene into insulin locus via CRISPR/Cas9 system. The reporter cell line not only effectively labelled the insulin-producing cells induced from hESC, but also reflected the cytosolic change of Ca level in response to different stimuli.

Spatially organized tumor-stroma boundary determines the efficacy of immunotherapy in colorectal cancer patients.

Colorectal cancer (CRC) patients with mismatch repair (MMR)-deficient (dMMR) but not MMR-proficient (pMMR) tend to benefit from immune checkpoint blockade (ICB) therapy. To profile the tumor microenvironments (TME) underlying these varied therapeutic responses, we integrate spatial enhanced resolution omics-sequencing (Stereo-seq), single-cell RNA sequencing, and multiplexed imaging analysis to create high-definition spatial maps of tumors from treatment-naïve and ICB-treated CRC patients. Our results identify the spatial organization and immune status of the tumor-stroma boundary as a distinctive feature of dMMR and pMMR CRCs, which associates with ICB response.

Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.

Aims: The study aims to investigate whether WFS1 is involved in the regulation of the exportation and secretion of other peptide hormones, as well as to elucidate the precise molecular mechanisms underlying WS caused by pathogenic mutations in the WFS1 gene.

Materials And Methods: The plasma proteome from the WS patients (n = 2, male) and WFS1-deficient mice (n = 5, male) were analyzed using liquid-chromatography tandem mass spectrometry (LC-MS/MS), while age- and gender-matched healthy individuals and wildtype (WT) mice serve as controls. WFS1-deficient mice were intraperitoneally injected with IGF1 starting from 4 weeks of age.

A risk prediction model of gestational diabetes mellitus based on traditional and genetic factors.

Background: Gestational diabetes mellitus (GDM) is a prevalent pregnancy complication during pregnancy. We aimed to evaluate a risk prediction model of GDM based on traditional and genetic factors.

Methods: A total of 2744 eligible pregnant women were included.

Effects of Liraglutide on Leptin Promoter Methylation in Ovarian Granulosa Cells of Patients with Polycystic Ovary Syndrome and Obesity.

Objective: The aim of the study was to explore the impacts of liraglutide on leptin (LEP) promoter methylation in ovarian granulosa cells of patients with polycystic ovary syndrome and obesity.

Methods: A total of 30 patients with polycystic ovary syndrome and obesity were retrospectively analyzed. According to the method of random grouping, the patients were divided into an observation group and a control group.

U-Shaped relationship of insulin-like growth factor I and incidence of nonalcoholic fatty liver in patients with pituitary neuroendocrine tumors: a cohort study.

Context: Although the role of insulin-like growth factor I (IGF-1) in nonalcoholic fatty liver disease (NAFLD) has garnered attention in recent years, few studies have examined both reduced and elevated levels of IGF-1.

Objective: The aim of this study was to examine the potential relationship between IGF-1 levels and the risk of new-onset NAFLD in patients with pituitary neuroendocrine tumors (PitNET).

Methods: We employed multivariable Cox regression models and two-piecewise regression models to assess the association between IGF-1 and new-onset NAFLD.

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.

Background: Hereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Here, we present a case of HHRH in a Chinese boy.

Case Presentation: We report a 11-year-old female proband, who was admitted to our hospital with bilateral genuvarum deformity and short stature.

Elevated Thyroglobulin Antibody Level is Associated with Decreased Anti-Müllerian Hormone in Women of Reproductive Age.

Purpose: Women with Hashimoto's thyroiditis (HT) have an increased risk of ovarian insufficiency. However, whether thyroid antibodies affect the ovarian reserve remains controversial. The aim of this study was to explore the possible relationship between anti-Müllerian hormone (AMH) and thyroid peroxidase antibody (TPOAb) and thyroglobulin antibody (TgAb) levels in women of reproductive age.

Single-cell and spatial transcriptomics reveal POSTN cancer-associated fibroblasts correlated with immune suppression and tumour progression in non-small cell lung cancer.

Background: Cancer-associated fibroblasts (CAFs) are potential targets for cancer therapy. Due to the heterogeneity of CAFs, the influence of CAF subpopulations on the progression of lung cancer is still unclear, which impedes the translational advances in targeting CAFs.

Methods: We performed single-cell RNA sequencing (scRNA-seq) on tumour, paired tumour-adjacent, and normal samples from 16 non-small cell lung cancer (NSCLC) patients.

Wolfram syndrome type 1: a case series.

Background: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life.

Comparison of exenatide alone or combined with metformin versus metformin in the treatment of polycystic ovaries: a systematic review and meta-analysis.

Background: Polycystic ovary syndrome (PCOS) is the most common cause of anovulatory infertility in women of childbearing age. Randomized controlled trials (RCTs) have reported that exenatide and metformin are effective in the treatment of PCOS. In this meta-analysis, we aimed to compare the effectiveness and safety of exenatide alone or in combination with metformin versus metformin in patients suffering from PCOS.

Circ_0004535/miR-1827/CASP8 network involved in type 2 diabetes mellitus with nonalcoholic fatty liver disease.

Diagnostic delay in type 2 diabetes mellitus (T2DM) with nonalcoholic fatty liver disease (NAFLD) patients often leads to a serious public health problem. Understanding the pathophysiological mechanisms of disease will help develop more effective treatments. High-throughput sequencing was used to determine the expression levels of circRNAs, and mRNAs in health controls, T2DM patients, and T2DM with NAFLD patients.

Associations between a polygenic risk score and the risk of gestational diabetes mellitus in a Chinese population: a case-control study.

Our objective was to construct a polygenic risk score (PRS) and assess its utility and effectiveness in predicting the risk of gestational diabetes mellitus (GDM) in a Chinese population. We performed a case-control study involving 638 patients with GDM and 1,062 healthy controls. Genotyping was conducted utilizing a genome-wide association study (GWAS), and a PRS was constructed.

Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1.

CYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 can result in congenital adrenal hyperplasia. We discovered a proband with a CYP11B1 gene mutation.

The Role of Lignin in the Compartmentalization of Cadmium in Maize Roots Is Enhanced by Mycorrhiza.

In nature, arbuscular mycorrhizal fungi (AMF) play a crucial role in the root systems of plants. They can help enhance the resistance of host plants by improving the compartmentalization of toxic metal contaminants in the cell walls (CWs). However, the functions and responses of various CW subfractions to mycorrhizal colonization under Cd exposure remain unknown.

Insulin-like growth factor-1 levels are associated with interventricular septal thickening.

Background And Objective: Insulin-like growth factor-1 (IGF-1) regulates cardiomyocyte survival, hypertrophy, and ageing. We aimed to investigate the potential correlation between IGF-1 and interventricular septal (IVS) thickening.

Methods: Medical record data were obtained from patients hospitalized between May 1, 2012 and April 30, 2022.

[Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype].

Objective: To explore the etiology of a patient with Kallmann syndrome (congenital hypogonadism and anosmia) and a 45,X/46,XY karyotype.

Methods: Peripheral venous blood samples were collected from the proband and his parents and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.

The non-linear relationship between triglyceride-glucose index and risk of chronic kidney disease in hypertensive patients with abnormal glucose metabolism: A cohort study.

Background: Triglyceride-glucose (TyG) index has been reported to be associated with cardiovascular disease (CVD). However, few studies have focused on TyG index and the risk of chronic kidney disease (CKD). Thus, this study aims to explore the relationship between TyG index and CKD.

Genomic Survey of Gene Family in Rice: Identification, Phylogenetic Analysis, and Expression Profiles in Organs and under Abiotic Stresses.

Phosphatidylethanolamine-binding-protein (PEBP) domain-containing proteins play important roles in multiple developmental processes of plants; however, functions of few members in the gene family have been elucidated in rice and other crops. In this study, we found that twenty genes identified in rice are not evenly distributed on the chromosomes. Four colinear pairs are identified, suggesting the duplication of during evolution.

Spatial transcriptome unveils a discontinuous inflammatory pattern in proficient mismatch repair colorectal adenocarcinoma.

The preexistence of immune cells in the tumor microenvironment substantiates the efficacy of immunotherapy in cancer patients. Although the complex intratumoral immune heterogeneity has been extensively studied in single cell resolution, hi-res spatial investigations are limited. In this study, we performed a spatial transcriptome analysis of 4 colorectal adenocarcinoma specimens and 2 paired distant normal specimens to identify the molecular pattern involved in a discontinuous inflammatory response in pathologically annotated cancer regions.

Pharmacokinetics of neomycin sulfate after intravenous and oral administrations in swine.

The aminoglycoside antibiotic neomycin, which is used to treat external or internal bacterial infections, is primarily administered in veterinary medicine as a sulfate salt. However, no information is available on the pharmacokinetic characteristics and absolute availability of neomycin sulfate after intravenous (i.v.

Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review.

Objective: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed.

Methods: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People's Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed.

Impact of Abdominal Obesity on Thyroid Auto-Antibody Positivity: Abdominal Obesity Can Enhance the Risk of Thyroid Autoimmunity in Men.

Background: The interrelation between obesity and autoimmune thyroid diseases is complex and has not been confirmed. The aim of the present study was to observe the relationship between thyroid autoimmunity and obesity, especially abdominal obesity, in a large population.

Methods: A total of 2253 residents who had lived in Xinjiang for more than 3 years were enrolled.

[Relationship between thyrotropin and urine iodine in Han and Uygur nationalities pregnancy women in People's Hospital of Xinjiang Uygur Autonomous Region].

To investigate the relationship between thyrotropin (TSH) and urine iodine in pregnant women of Han and Uygur ethnic groups in People's Hospital of Xinjiang Uygur Autonomous Region. A total of 1 568 pregnant who completed screening of TSH and urine iodine in People's Hospital of Xinjiang Uygur Autonomous Region hospital from August 2014 to December 2017 were included in the study, 956 cases were Han and the other 612 were Uygur. Basic clinical data, serum TSH, thyroid peroxidase autoantibody (TPOAb) , and urine iodine levels were retrospectively analyzed.