In recent years, research on Neurodevelopmental Disorders (NDDs) has uncovered numerous genetic variants associated with NDDs, ranging from Single Nucleotide Variants (SNVs) to large structural changes (such as chromosomal rearrangements). Against this research background, Edoardo Errichiello, Mauro Lecca, Chiara Vantaggiato, and other researchers ...

This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...

Hyperglycemia Enhances Brain Susceptibility to Lipopolysaccharide-Induced Neuroinflammation via Astrocyte Reprogramming Academic Background Introduction Diabetes is a chronic metabolic disease affecting millions of people worldwide, characterized by hyperglycemia, or elevated blood glucose levels. For a long time, research has primarily focused on ...

Over the past few decades, the incidence of type 2 diabetes mellitus (T2DM) has been on the rise, becoming a global public health issue. T2DM not only affects patients’ metabolic levels but also has profound impacts on cognitive function and mental health. Studies have shown that patients with T2DM exhibit brain structural abnormalities, a decline ...

Prediction of Invasiveness and Treatment Resistance Behavior of Pituitary Neuroendocrine Tumors Based on Genome-Wide Loss of Heterozygosity Background: Pituitary neuroendocrine tumors (PitNETs) are mostly benign, but a small portion exhibit invasive and treatment-resistant behaviors, continuing to grow or metastasize even after surgery, conventiona...

Clonal Hematopoiesis and Risk of Thrombocytopenia in Neuroendocrine Tumor Patients Undergoing 177Lu Therapy: A Prospective Study Background and Research Motivation The incidence of Neuroendocrine Tumors (NETs) has gradually increased in recent years. Prognosis depends on various factors such as the location of the primary tumor, disease grading, st...

Mapping Multimorbidity Progression Among 190 Diseases Background Globally, with the aging population and the significant increase in the negative impacts of chronic diseases, multimorbidity, the coexistence of multiple long-term conditions, has become an increasingly severe health challenge. Understanding the accumulation process of multimorbidity ...

In the global context, the prevalence of obesity is on the rise, bringing significant impacts to public health. Obesity is independently associated with the incidence and mortality of cardiovascular diseases, with an estimated economic burden exceeding $200 billion annually for healthcare systems. In recent years, glucagon-like peptide-1 (GLP-1) re...

Needs Assessment for Establishing a Platform Trial Network: A Case Study on Metabolic Dysfunction-Associated Steatohepatitis (MASH) Academic Background The public health issue posed by Metabolic Dysfunction-Associated Steatohepatitis (MASH) is becoming increasingly severe. MASH is a condition caused by fat accumulation, inflammation, and cell damag...

Reversal of Beige Fat Decline by Estrogen Through NAMPT-Regulated Endoplasmic Reticulum Stress Response Abstract: Brown adipocytes are valued for their potential therapeutic effects against metabolic diseases. However, the metabolic advantages provided by these cells deteriorate with age. Our research shows that treating mice with estrogen (E2), a ...