Comparison and development of machine learning for thalidomide-induced peripheral neuropathy prediction of refractory Crohn's disease in Chinese population.

Background: Thalidomide is an effective treatment for refractory Crohn's disease (CD). However, thalidomide-induced peripheral neuropathy (TiPN), which has a large individual variation, is a major cause of treatment failure. TiPN is rarely predictable and recognized, especially in CD.

The transcription factor regulates pituitary development in zebrafish.

Background: ISL LIM homeobox 2, also known as insulin gene enhancer protein ISL-2 (), is a transcription factor gene that participates in a wide range of developmental events. However, the role of in the hypothalamus-pituitary-thyroid axis is largely unknown. In the present study, we characterized the expression patterns of and revealed its regulative role during embryogenesis using zebrafish.

Lymphocyte infiltration and thyrocyte destruction are driven by stromal and immune cell components in Hashimoto's thyroiditis.

Hashimoto's thyroiditis (HT) is the most common autoimmune disease characterized by lymphocytic infiltration and thyrocyte destruction. Dissection of the interaction between the thyroidal stromal microenvironment and the infiltrating immune cells might lead to a better understanding of HT pathogenesis. Here we show, using single-cell RNA-sequencing, that three thyroidal stromal cell subsets, ACKR1 endothelial cells and CCL21 myofibroblasts and CCL21 fibroblasts, contribute to the thyroidal tissue microenvironment in HT.

Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.

DUOX2 is the most frequently mutated gene in patients with congenital hypothyroidism (CH) in China. However, no reliable genotype-phenotype relationship has been found in patients with DUOX2 mutations. In this study, DUOX2 mutations were screened in 266 CH patients, and the enzymatic activity of 89 DUOX2 variants was determined in vitro.

A five-gene panel refines differential diagnosis of thyroid nodules.

Background: Molecular testing for oncogenic mutations in fine-needle aspiration has showed high predictive value in identifying malignant lesions from thyroid nodules with indeterminate cytology.

Methods: To figure out an efficient and economical gene panel for most medical institutions in China, we designed a five-gene panel including BRAF/NRAS/KRAS/HRAS/TERT genes and conducted a retrospective study to evaluate the role of this five-gene diagnostic panel in differential diagnosis of thyroid nodules.

Results: A total of 665 patients with 695 thyroid nodules were investigated in the current study.

Three-dimensional microscopy and image fusion reconstruction analysis of the thyroid gland during morphogenesis.

Thyroid dysgenesis (TD) is a major cause of primary congenital hypothyroidism; however, the molecular mechanism underlying this process is unclear. Current knowledge regarding the morphogenesis of the thyroid gland and vascular anomalies affecting thyroid development is limited. To monitor the early stages of thyroid gland development, we generated double transgenic zebrafish embryos Tg(tg:mCherry/flk1:EGFP).

Genetic Study in a Large Cohort Supported Different Pathogenesis of Graves' Disease and Hashimoto's Hypothyroidism.

Context: Hashimoto's thyroiditis (HT) and Graves' disease (GD) are the 2 main autoimmune thyroid diseases that have both similarities and differences. Determining the genetic basis that distinguishes HT from GD is key for a better understanding of the differences between these closely related diseases.

Objects: To identify the susceptibility genes for HT in the Chinese cohort and compare susceptibility genes between GD and HT.

Uterus globulin associated protein 1 (UGRP1) is a potential marker of progression of Graves' disease into hypothyroidism.

Approximately 20% of Graves' disease (GD) patients may result eventually in hypothyroidism in their natural course. Uterus globulin-associated protein 1 (UGRP1) was associated with GD in our previous study. Here we investigated the role of UGRP1 in the development of autoimmune thyroid disease (AITD).

Assessment of Molecular Subtypes in Thyrotoxic Periodic Paralysis and Graves Disease Among Chinese Han Adults: A Population-Based Genome-Wide Association Study.

Importance: Thyrotoxic periodic paralysis (TPP) is a potentially lethal complication of hyperthyroidism. However, only 1 specific susceptibility locus for TPP has been identified. Additional genetic determinants should be detected so that a prediction model can be constructed.

A Weighted Genetic Risk Score Using Known Susceptibility Variants to Predict Graves Disease Risk.

Context: Graves disease (GD) is a common thyroid-specific autoimmune disease and one of the most heritable diseases in the population. We present a risk-prediction model, including confirmed, known genetic variants associated with GD.

Design: To construct a stable-prediction model, we used known GD susceptibility single nucleotide polymorphisms (SNPs) as markers and trained and tested our model in a cohort of 4897 patients with GD and 5098 healthy controls.

A dense mapping study of six European AITD susceptibility regions in a large Chinese Han Cohort of Graves' disease.

Objective: We aimed to investigate the six susceptibility loci of GD identified from European population in Chinese Han population and further to estimate the genetic heterogeneity of them in stratification of our GD patients.

Design: Dense mapping studies based on GWAS.

Patients: A total of 1536 GD patients and 1516 controls in GWAS stage and 1994 GD patients and 2085 controls and 5033 GD patients and 5389 controls in two replication stages.

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Objective: Congenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited.

Design And Methods: One hundred ten patients with primary CH were recruited in this study.

Tumor-suppressive function of in papillary thyroid cancer.

Background: Studies have shown an association of the gene with kidney and bladder cancer and neuroblastoma. We investigated whether acts as a tumor suppressor in papillary thyroid carcinoma (PTC).

Methods: Primary PTC tumors and matched normal thyroid tissues were obtained from 112 patients to detect mRNA by real-time PCR.

ITM2A Expands Evidence for Genetic and Environmental Interaction in Graves Disease Pathogenesis.

Context: Graves disease (GD) is a common autoimmune disease triggered by genetic predisposition and environmental factors. However, the mechanisms of interaction between genetic and environmental factors contributing to the development of GD remain unknown.

Objective: We aimed to identify GD susceptibility variants and genes on Xq21.

Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.

Thyroid-stimulating hormone (TSH) is a sensitive indicator of thyroid function. High and low TSH levels reflect hypothyroidism and hyperthyroidism, respectively. Even within the normal range, small differences in TSH levels, on the order of 0.

Identification of BACH2 as a susceptibility gene for Graves' disease in the Chinese Han population based on a three-stage genome-wide association study.

The BACH2 gene regulates B cell differentiation and function and has been reported to be a shared susceptibility gene for several autoimmune diseases. Our previous genome-wide association study (GWAS) indicated that several single nucleotide polymorphisms (SNPs) in the BACH2 gene are associated with Graves' disease (GD) in the Chinese Han population; however, the association did not achieve genome-wide significance levels. Recently, this association of BACH2 with GD was confirmed in Caucasians in the UK population, but fine mapping in this region has not yet been reported.

Hyperglycemia magnifies bupivacaine-induced cell apoptosis triggered by mitochondria dysfunction and endoplasmic reticulum stress.

Nerve cell injury associated with apoptosis plays an important role in the development of diabetic peripheral neuropathy (DPN). However, it remains unclear whether preexisting or potential neurocyte damage induced by hyperglycemia increases sensitivity to local anesthetics. SH-SY5Y cells were pretreated with a high concentration of glucose in vitro, to imitate DPN prior to administration of bupivacaine or placebo.

Aldosterone directly affects apelin expression and secretion in adipocytes.

There is a high incidence of metabolic syndrome among patients with primary aldosteronism (PA), which has recently been associated with an unfavorable cardiometabolic profile. However, the underlying mechanisms have not been clarified in detail. Characterizing aldosterone (Ald) target genes in adipocytes will help us to elucidate the deleterious effects associated with excess Ald.

Spleen stiffness and splenoportal venous flow: assessment before and after transjugular intrahepatic portosystemic shunt placement.

Objectives: To prospectively assess changes in spleen stiffness and splenoportal venous flow before and after transjugular intrahepatic portosystemic shunt (TIPS) placement.

Methods: We prospectively evaluated spleen stiffness measured by the mean shear wave velocity with acoustic radiation force impulse imaging and the splenoportal venous velocity with color Doppler sonography in 12 patients (mean age ± SD, 42.6 ± 11.

Liver and spleen stiffness measured by acoustic radiation force impulse elastography for noninvasive assessment of liver fibrosis and esophageal varices in patients with chronic hepatitis B.

Objectives: To evaluate the performance of liver and spleen stiffness measured by acoustic radiation force impulse (ARFI) elastography for noninvasive assessment of liver fibrosis and esophageal varices in patients with chronic hepatitis B virus.

Methods: Two hundred sixty-four participants, of whom 60 were healthy volunteers (classified as stage 0), 66 were patients with chronic hepatitis B who had undergone liver biopsy, and 138 were patients with hepatitis B-related cirrhosis, were enrolled in this study. Median liver and spleen stiffness values (meters per second) from 10 successful measurements per participant were obtained.