Association of 6:2 Fluorotelomer Ethoxylate Exposure with Serum Lipids in General Adults.

A series of 6:2 fluorotelomer ethoxylates (FTEOs) has been recently detected in human serum. Whether it has the potential to disrupt lipid metabolism in human populations remains largely unexplored. This study quantified serum concentrations of 6:2 FTEOs in 237 healthy Chinese adults, examined the gender- and age-specific differences in serum levels of 6:2 FTEOs, and investigated the associations between serum levels of 6:2 FTEOs and lipid profiles for the first time.

mutation leads to different genders of twinning: a case report and literature review.

Background: Loss-of-function variants in protein phosphatase 1 regulatory subunit 12A () can lead to urogenital and/or brain malformation syndrome (UBMS). When UBMS individuals exhibit genital abnormalities, it is combined with disorders of sex development (DSD). To report a variation in a case of 46,XY twins exhibiting different phenotypes of genital development.

Potential diagnostic value of serum bile acid profiling in girls with central precocious puberty.

Background: The diagnosis of central precocious puberty (CPP) relies on a gonadotropin releasing hormone stimulation test to assess the activation of the hypothalamic-pituitary-gonadal axis; this is costly and painful. Bile acids (BAs) have emerged as pivotal signaling molecules in the reproductive system. This study aimed to identify circulating BA profile signatures and explored if they may serve as biomarkers for CPP diagnosis in girls.

Implementing Large Language Models in Health Care: Clinician-Focused Review With Interactive Guideline.

Background: Large language models (LLMs) can generate outputs understandable by humans, such as answers to medical questions and radiology reports. With the rapid development of LLMs, clinicians face a growing challenge in determining the most suitable algorithms to support their work.

Objective: We aimed to provide clinicians and other health care practitioners with systematic guidance in selecting an LLM that is relevant and appropriate to their needs and facilitate the integration process of LLMs in health care.

Exploring Complexity-Calibrated morphological distribution for whole slide image classification and difficulty-grading.

Multiple Instance Learning (MIL) is essential for accurate pathological image classification under limited annotations. Global-local morphological modeling approaches have shown promise in whole slide image (WSI) analysis by aligning patches with spatial positions. However, these methods fail to differentiate samples by complexity during morphological distribution construction, treating all samples equally important for model training.

Baf60c in skeletal muscle regulates adipose tissue thermogenesis via Musclin-mediated endocrine signaling.

Skeletal muscle plays a key role in metabolic homeostasis. Brg1/Brm-associated factor (Baf) 60c, a subunit of the mating type switching/sucrose non-fermenting (SWI/SNF) chromatin remodeling complexes, was previously identified to be robustly involved in glycolytic muscle function and systemic metabolic balance. However, whether Baf60c regulates the secreted factors and couples the skeletal muscle function to systemic metabolism remains unclear.

Optogenetic perturbation of lipid droplet localization affects lipid metabolism and development in Drosophila.

Lipid droplets (LDs) are dynamic organelles crucial for lipid storage and homeostasis. Despite extensive documentation of their importance, the causal relationship between LD localization and function in health and disease remains inadequately understood. Here, we developed optogenetics-based tools, termed "Opto-LDs," which facilitate the interaction between LDs and motor proteins in a light-dependent manner, enabling precise control of LD localization within cells.

Clinical evaluation and molecular analysis of genetic and epigenetic inactivation defects in GNAS in children: A multicenter experience in China.

Objective: We assessed pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and characterized their clinical features.

Design: We enrolled a total of 87 patients in our study, 70 patients underwent genetic analysis. We compared the clinical manifestations according to the previously reported inactivating PTH/PTHrP signaling disorder (iPPSD) classification combined with conventional clinical classification.

Comparative analysis of adiposity indices for predicting 2-year hypertension incidence in children and adolescents: a retrospective study.

Background: The aim of this study was to systemically examine the concomitant impact of adiposity indices on hypertension in children and adolescents.

Methods: A community-based cohort study conducted by the China Health and Nutrition Survey (CHNS) 2009-2011 included 262 children and adolescents aged 7-17 years. Anthropometric and lipid profiles were analyzed for hypertension risk using logistic and cross-lagged models.

Noninvasive Urinary Biomarkers for Obesity-Related Metabolic Diseases: Diagnostic Applications and Future Directions.

Obesity-related metabolic diseases include conditions linked to obesity, such as type 2 diabetes, hypertension, steatotic liver disease, and polycystic ovary syndrome. These disorders are primarily caused by insulin resistance, chronic inflammation, and excessive fat accumulation. They represent significant health challenges and often remain asymptomatic during their early stages.

Height and Body Mass Index Changes in Chinese Children Undergoing Chemotherapy for Acute Lymphoblastic Leukemia.

Background: Children with acute lymphoblastic leukemia (ALL) have a higher risk of height deficit and obesity. Data on Chinese pediatric ALL patients treated on chemotherapy only are limited.

Methods: Changes in z scores for height and body mass index (BMI) from the diagnosis to 2 years after the initial of treatment were analyzed in 805 ALL patients diagnosed at Children's Hospital of Zhejiang University School of Medicine.

Somapacitan Is Effective and Well Tolerated in Chinese Children with Growth Hormone Deficiency: A Randomized Controlled Phase 3 Study.

Introduction: REAL6 is a randomized, multi-centre, open-labelled, active-controlled parallel group phase 3 trial (NCT04970654) investigating once-weekly somapacitan, a reversible albumin-binding growth hormone (GH) derivative, in Chinese children with GH deficiency (GHD).

Methods: 110 treatment-naïve patients were randomized 2:1 to somapacitan (0.16 mg/kg/week) or daily GH (Norditropin®; 0.

Biorhythm-mimicking growth hormone patch.

Timing dosing throughout the day impacts the therapeutic efficacy and side effects of medications. Thus, optimizing release profiles to synchronize drug concentrations with natural rhythms is critical for optimal therapeutic benefits. However, existing delivery systems are still inefficient in delivering drugs in a biorhythm-mimicking fashion.

POT, an optogenetics-based endogenous protein degradation system.

Precise regulation of protein abundance is critical for cellular homeostasis, whose dysfunction may directly lead to human diseases. Optogenetics allows rapid and reversible control of precisely defined cellular processes, which has the potential to be utilized for regulation of protein dynamics at various scales. Here, we developed a novel optogenetics-based protein degradation system, namely Peptide-mediated OptoTrim-Away (POT) which employs expressed small peptides to effectively target endogenous and unmodified proteins.

Extending curve matching with flexible hyperparameter selection to predict response to long-acting PEGylated growth hormone treatment in growth hormone deficiency children: method development and validation.

Purpose: Curve matching can predict the height trajectories of children by analyzing longitudinal growth data. We extended the method to improve the prediction of response to long-acting growth hormone treatment in children with growth hormone deficiency (GHD).

Methods: We analyzed data from a previous real-world study with a 36-month treatment of PEGylated recombinant human growth hormone (PEG-rhGH).

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.

Aim: Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.

Long-Term Exposure to Fine Particulate Matter (PM) Components and Precocious Puberty Among School-Aged Children: Cross-Sectional Study.

Background: The increasing incidence of precocious puberty is a major health challenge for Chinese children, while related risk factors remain less well explored. Exposure to ambient fine particulate matter (PM2.5) is a leading environmental hazard in China.

Long-term exposure to fine particulate matter components with obesity in children and adolescents in China: The age-sex disparities and key effect modifiers.

Long-term fine particulate matter (PM) exposure was associated with childhood obesity. However, the key PM components and whether PM effect may vary by obesity type, growth stage, sex, and individual/family characteristics have yet been examined. In this study, we investigated 213,907 Chinese children and adolescents aged 3-18 years in 2017-2019.

Optogenetic control of mitochondrial aggregation and function.

The balance of mitochondrial fission and fusion plays an important role in maintaining the stability of cellular homeostasis. Abnormal mitochondrial fission and fragmentation have been shown to be associated with oxidative stress, which causes a variety of human diseases from neurodegeneration disease to cancer. Therefore, the induction of mitochondrial aggregation and fusion may provide an alternative approach to alleviate these conditions.

MetOrigin 2.0: Advancing the discovery of microbial metabolites and their origins.

First introduced in 2021, MetOrigin has quickly established itself as a powerful web server to distinguish microbial metabolites and identify the bacteria responsible for specific metabolic processes. Building on the growing understanding of the interplay between the microbiome and metabolome, and in response to user feedback, MetOrigin has undergone a significant upgrade to version 2.0.

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.

Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.

ISPAD Clinical Practice Consensus Guidelines 2024: Type 2 Diabetes in Children and Adolescents.

Youth-onset type 2 diabetes (T2D) results from genetic, environmental, and metabolic causes that differ among individuals and populations. This chapter builds on the 2022 ISPAD guidelines and summarizes recent advances in the management of T2D in children and adolescents. Updates include diagnostic algorithm for youth with new onset T2D, algorithms and tables for treatment, management, and assessment of comorbidities and complications and recommendations on recently approved pharmacologic therapies for the treatment of youth-onset T2D and management strategies.

Systematic Evaluation of Adiposity Indices as Predictors of Hypertension Risk in Children and Adolescents.

Objective: To systemically examine the concomitant impact of adiposity indices on hypertension in children and adolescents.

Methods: A community-based cohort study by China Health and Nutrition Survey (2009-2011) included 262 children and adolescents aged 7-17. Anthropometric and lipid profiles were analyzed for hypertension risk using logistic and cross-lagged models.