Systemic immunity-inflammation index is associated with body fat distribution among U.S. adults: evidence from national health and nutrition examination survey 2011-2018.

Objective: The systemic immunity-inflammation index (SII) is a newly developed biomarker that provides an integrated measure of inflammation in the body. We aim to evaluate the relationship between SII and body fat distribution.

Methods: Adults from the National Health and Nutrition Examination Survey (NHANES) 2011-2018 were included.

The interference of anti-TSH autoantibody on clinical TSH detection.

Objective: It is well known that macro-thyroid-stimulating hormone (macro-TSH) could interfere with the detection of TSH. The anti-TSH autoantibody is an essential component of macro-TSH. However, the epidemiological characteristics and the clinical interference of the anti-TSH autoantibody are unclear.

Non-thyroidal disease syndrome in patients with systemic lupus erythematosus: relation to disease inflammatory activity.

Objective: To identify risk factors for the development of non-thyroidal illness syndrome (NTIS) in patients with systemic lupus erythematosus (SLE).

Methods: A retrospective analysis of 517 SLE patients and 1034 age-and sex-matched healthy population was conducted to compare the prevalence of NTIS in these two groups, and to analyze the laboratory and clinical characteristics of SLE patients with NTIS. Finally Logistic regression analysis was used to determine the risk factors for NTIS in SLE patients.

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.

Background: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. At present, the genotype-phenotype relationship of XLHR and the pathogenic role of PHEX are not fully understood.

Methods: In this study, we summarized clinical features in a new cohort of 49 HR patients and detected 16 novel PHEX and 5 novel non-PHEX variants.

Review of lipocalin-2-mediated effects in diabetic retinopathy.

Background: Studies have uncovered LCN2 as a marker of inflammation strongly related to obesity, insulin resistance, and abnormal glucose metabolism in humans, and is involved in vascular diseases, inflammatory diseases, and neurological diseases. In recent years, studies have shown that elevated levels of LCN2 have a strong association with diabetic retinopathy (DR), but the pathogenesis is unknown. Here, we reviewed the relevant literature and compiled the pathogenesis associated with LCN2-induced DR.

Thyroid function and thyroid homeostasis parameters are associated with increased urinary albumin excretion in euthyroid individuals over 60 years old from NHANES.

Introduction: The relationship between thyroid function/homeostasis parameters and renal function has been extensively studied. However, the relationship between thyroid function and thyroid homeostasis parameters with albuminuria among elderly individuals remains unclear.

Methods: The population was divided into an albuminuria group and a non-albuminuria group for baseline characteristic difference analysis.

Investigating causal associations among gut microbiota, metabolites and autoimmune hypothyroidism: a univariable and multivariable Mendelian randomization study.

Background: Accumulating evidence suggests that the gut microbiota and its metabolites may be involved in autoimmune hypothyroidism. However, the causal association between gut microbiota, metabolites and autoimmune hypothyroidism remains to be determined.

Methods: Instrumental variables were screened from the GWAS datasets of 211 gut microbiota taxonomic groups, gut microbiota-derived metabolites, and autoimmune hypothyroidism.

The causal relationship between autoimmune thyroid disorders and telomere length: A Mendelian randomization and colocalization study.

This study aimed to evaluate whether there is a causal relationship between autoimmune thyroid disorders (AITDs) and telomere length (TL) in the European population and whether there is reverse causality. In this study, Mendelian randomization (MR) and colocalization analysis were conducted to assess the potential causal relationship between AITDs and TL using summary statistics from large-scale genome-wide association studies, followed by analysis of the relationship between TL and thyroid stimulating hormone and free thyroxine (FT4) to help interpret the findings. The inverse variance weighted (IVW) method was used to estimate the causal estimates.

Association between rheumatoid arthritis and autoimmune thyroid disease: evidence from complementary genetic methods.

Objectives: To assess the causal association of Rheumatoid Arthritis (RA) with Autoimmune thyroid disease (AITD).

Method: Complementary genetic approaches, including genetic correlation, Mendelian randomization (MR) and colocalization analysis, were conducted to assess the potential causal association between RA and AITD using summary statistics from large-scale genome-wide association studies (GWASs). Various sensitivity analyses had been conducted to assess the robustness and the consistency of the findings.

The causal relationship between thyroid function, autoimune thyroid dysfunction and lung cancer: a mendelian randomization study.

Background: The role of thyroid hormones in cancers has been discussed in observational studies; however, the causal relationship between them remains controversial.

Methods: The SNPs associated with hypothyroidism and hyperthyroidism were selected from a FinnGen biobank of 342,499 (190,879 females and 151,620 males) Finnish adult subjects. Data from the Thyroidomics Consortium on 72,167 individuals were used to assess genetically determined thyroid-stimulating hormone (TSH) and free thyroxine (FT4).

Identification and Validation of Hub Immune-Related Genes in Non-Alcoholic Fatty Liver Disease.

Background: Nonalcoholic fatty liver disease (NAFLD) is the most common progressive liver disease worldwide. It can cause liver cancer and possibly death. Abnormal immune infiltration is involved in the progression of NAFLD.

Association Between Educational Attainment and Thyroid Function: Results From Mendelian Randomization and the NHANES Study.

Context: Many observational studies have reported on the association between educational attainment (EA) and thyroid function, but the causal relationship remains unclear.

Objective: We aimed to obtain causal effects of EA on thyroid function and to quantify the mediating effects of modifiable risk factors.

Methods: Two-sample mendelian randomization (MR) was performed by using summary statistics from large genome-wide association studies (GWAS) to assess the effect of EA on thyroid function, including hypothyroidism, hyperthyroidism, thyrotropin (TSH), and free thyroxine (FT4).

Association between lipocalin-2 levels and diabetic retinopathy in patients with overweight/obese type 2 diabetes mellitus.

Aims: The study aimed to investigate the association between lipocalin-2 (LCN-2) levels and diabetic retinopathy (DR) in patients with overweight/obese type 2 diabetes mellitus(T2DM), and to explore the mechanism of LCN-2 in overweight/obese DR.

Methods: The study involved 237 T2DM inpatients divided into the normal group and overweight/obese group, and the two groups were further divided into two subgroups according to the presence or absence of DR. The demographic data and biochemical parameters were measured.

Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes.

Introduction: Mutations of gene were first reported to cause a new type of maturity-onset diabetes of the young (MODY) denoted as MODY8 and then were also found in patients with type 1 (T1D) and type 2 diabetes (T2D). However, its genotype-phenotype relationship has not been fully determined and how carboxyl ester lipase (CEL) variants result in diabetes remains unclear. The aim of our study was to identify pathogenic variants of in patients with diabetes and confirm their pathogenicity.

Association Between Systemic Lupus Erythematosus and Primary Hypothyroidism: Evidence from Complementary Genetic Methods.

Introduction: Systemic lupus erythematosus (SLE) and hypothyroidism often coexist in observational studies; however, the causal relationship between them remains controversial.

Methods: Complementary genetic approaches, including genetic correlation, Mendelian randomization (MR), and colocalization analysis, were conducted to assess the potential causal association between SLE and primary hypothyroidism using summary statistics from large-scale genome-wide association studies. The association between SLE and thyroid-stimulating hormone (TSH) was further analyzed to help interpret the findings.

Bone Metabolism Discrepancy in Type 2 Diabetes Mellitus Patients With and Without Non-Alcoholic Fatty Liver Disease.

To explore the distribution of several bone metabolic indicators in type 2 diabetes patients (T2DM) with and without non-alcoholic fatty liver disease (NAFLD) and to preliminarily evaluate the relationship of bone metabolism with NAFLD in patients with T2DM. The hospitalized patients with T2DM were divided into the group of T2DM complicated with NAFLD and the group of T2DM alone according to the results of ultrasonic diagnosis. The general information and laboratory test data such as bone metabolism indexes of these patients were collected and the differences of the indexes between the 2 groups were compared.

Cholesterol inhibits autophagy in RANKL-induced osteoclast differentiation through activating the PI3K/AKT/mTOR signaling pathway.

Background: A dysregulated balance between bone formation and bone resorption controlled by osteoblast and osteoclast will lead to osteoporosis. Cholesterol (CHO) is a crucial factor leading to osteoporosis, and autophagy appears to involve it. Therefore, we aimed to study the molecular mechanism of autophagy in CHO-induced osteoclasts differentiation.

Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.

Mutations of filamin B () gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3), and boomerang dysplasia (BD). Among them, LRS is milder while BD causes a more severe phenotype. However, the molecular mechanism underlying the differences in clinical phenotypes of different variants has not been fully determined.

Predictive Efficiency of Prediabetes for Diabetes Among Chinese Middle-Aged and Older Populations: a 5-Year National Prospective Cohort Study.

Background: Limited studies have explored the predictive efficiency of prediabetes based on two definitions for diabetes among Chinese middle-aged and older populations with prediabetes.

Objective: To evaluate the predictive efficiency of prediabetes based on two definitions for diabetes and the clinical and public health benefit in Chinese middle-aged and older populations.

Design: A 5-year cohort study from the China Health and Retirement Longitudinal Study.

Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta.

Objective: To evaluate the genotype-phenotype relationship and the effect of treatment on the clinical course of osteogenesis imperfecta (OI).

Methods: We established a Chinese hospitalized cohort with OI and followed them up for an average of 6 years. All patients were confirmed as having OI using whole-exome sequencing.

The effect of empagliflozin on contractile reserve in heart failure: Prespecified sub-study of a randomized, double-blind, and placebo-controlled trial.

Background: Sodium-glucose co-transporter-2 inhibitors improve cardiac structure but most studies suggest no change in left ventricular (LV) systolic function at rest. Whether sodium-glucose co-transporter-2 inhibitors improve LV contractile reserve is unknown. We investigated the effect of empagliflozin on LV contractile reserve in patients with heart failure (HF) and reduced ejection fraction.

Liver T1 relaxation time of the 'normal liver' in healthy Asians: measurement with MOLLI and B-corrected VFA methods at 3T.

Objectives: Liver T1 is a potential magnetic resonance imaging biomarker for liver diseases. This study aimed to determine the T1 relaxation time of the normal liver (PDFF<5%) in healthy Asian volunteers using modified look-locker inversion recovery (MOLLI) and B inhomogeneity-corrected variable flip angle (B-corrected VFA).

Methods: 60 healthy Asian volunteers without focal or diffuse liver disease underwent a liver scan at 3T magnetic resonance.