Icahn School of Medicine at Mount Sinai

Dual-Factor Mental Health Profiles Among Rural School Teachers in China: Associations With Sociodemographic, Occupational, Health Behaviors, and Psychosocial Factors

This study aimed to identify heterogeneous profiles of school teachers in rural China and to examine whether these profiles differed across sociodemographic, work-related, health behavior, and psychosocial factors. Participants were 513 teachers from rural schools in Hunan Provin...

Peripheral sudomotor reflex activity as a candidate autonomic biomarker for psychosis: associations with symptoms and cognition

Background Abnormalities in Autonomic Nervous System activity are well described in psychosis but their peripheral versus CNS origins remains unresolved. However, the purely peripheral component of the sudomotor sweat reflex can be quantified using the Quantitative Sudomotor Axon...

Neurodegeneration and inflammation in a novel spinocerebellar ataxia 13 preclinical model

Abstract Neuroinflammation is a critical pathological feature underlying neurodegenerative diseases. Spinocerebellar ataxia 13 (SCA13) is a heterogeneous ataxia with several allelic variations of differing phenotypes. All are neurodegenerative and currently without effective trea...

Targeting the dopaminergic midbrain with precision 7-Tesla biofeedback training in depression: A proof-of-principle randomized controlled trial

Abstract The significant heterogeneity of major depressive disorder (MDD) requires the development of interventions that directly target underlying cognitive or neurobiological mechanisms. This work tested the efficacy of self-modulation of the dopaminergic midbrain with high-fie...

Does an alar ligament tubercle exist? Anatomical study with application to imaging interpretation and skull base approaches

Although numerous anatomical and radiological studies describe a "tubercle" of the alar ligaments at the medial OC as the alar ligament insertion, no systematic osteological investigation has evaluated the prevalence, morphology, and variability of this structure. Therefore, this...

Reappraisal of Cisplatin vs Carboplatin Treatment for Solid Tumors

Importance Cisplatin and carboplatin are central pillars of chemotherapy in solid tumor oncology, but their comparative efficacy and tolerability remain variably defined in the literature across tumor types and settings. Objective To quantify and grade the certainty of evidence c...

Per- and polyfluoroalkyl substances levels other than PFOS, PFOA, or PFHxS and liver cancer risk: a nested case-control analysis

Abstract Epidemiologic studies of PFAS and liver cancer risk have produced conflicting results with no strong or clear associations for pre-diagnostic perfluorooctanesulfonate (PFOS), perfluorooctanoate (PFOA), and perfluorohexanesulfonate (PFHxS). We now report analyses of nine...

ADNP ‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein ( ADNP ) gene. In addition to ASD, ADNP‐related HVDAS is ass...

Splenic regulation of systemic platelet activation state

Platelets are essential to prevent blood loss and to orchestrate inflammation. Thrombotic complications of vascular disease and hyperresponsive platelets are associated with adverse outcomes, yet physiological mechanisms counteracting systemic platelet activation are poorly defin...

Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)

Summary A heterozygous Kruppel‐like factor 1 (KLF1) E325K mutation causes a severe form of congenital dyserythropoietic anaemia (CDA), designated CDA‐IV (Online Mendelian Inheritence in Man, OMIM 613673), a rare disease with only 15 cases known. In addition to haemolytic anaemia,...

Characterization of Leukocyte Crawling in the Living Human Retina Using Adaptive Optics Scanning Light Ophthalmoscopy

Purpose: Direct visualization of leukocytes within the retinal microvasculature is essential for investigating local immune responses. In this study, we characterize leukocyte crawling dynamics in the retinal vasculature of healthy volunteers and three patients with systemic dise...

Non-Invasive Skin Imaging Techniques for Diagnosing and Monitoring Mycosis Fungoides: A Comprehensive Review

Mycosis fungoides, the most common primary cutaneous T-cell lymphoma, presents notable diagnostic challenges. In its early stages, it may resemble inflammatory dermatoses both clinically and histologically, causing delays in diagnosis. These factors can lead to treatment delays,...

Identifying methodological guidance used for systematic reviews, clinical practice guidelines, and health technology assessment for rare diseases: a scoping review protocol.

OBJECTIVE: This scoping review will identify methodological guidance relevant to systematic reviews (SRs), clinical practice guidelines (CPGs), and health technology assessments (HTAs) for rare diseases, and examine methodological challenges associated with their development. INT...

Pre-Diagnostic Plasma Endogenous Steroids and the Risk of Exfoliation Glaucoma

Purpose: Exfoliation glaucoma (XFG) is the most common secondary glaucoma. Prior studies suggest a higher incidence in women and links to reproductive history, implying estrogen-related pathways. Metabolomic data also indicated inverse associations with steroid-related plasma met...

Spatially Distinct TREM2+ Macrophages Are Associated with Compartment-Specific Protection in Diabetic Kidney Disease

Background: Diabetic kidney disease (DKD) is driven by complex pathological mechanisms including lipid accumulation, chronic inflammation, and fibrosis, contributing to progressive kidney dysfunction. Macrophages are key contributors to DKD pathogenesis, yet their functional hete...

Comparing clinicopathological factors and quantitative background parenchymal enhancement to predict pathological complete response after neoadjuvant chemotherapy in breast cancer

PURPOSE: To investigate the predictive value of deep learning (nnU-Net)-based fully automated quantitative background parenchymal enhancement (BPE) metrics and clinicopathological factors for pathological complete response (pCR) in patients with breast cancer receiving neoadjuvan...

Expansion of the Clinical and Molecular Spectrum of LINS1 ‐Associated Disease

ABSTRACT LINS1 gene plays a role in cognition and brain development. Mutations in this gene have been identified as the cause of a neurodevelopmental disorder as well as dysmorphisms, motor symptoms, behavioral problems, seizures, microcephaly, mitral valve prolapse, and Q‐T prol...

Modeling the Exposome in Murine Cardiovascular Disease

Our exposome, encompassing our environmental and lifestyle exposures across the life span, is a critical determinant of cardiovascular health. Clinical and epidemiological data demonstrate that sleep, stress, exercise, smoking, viral respiratory infections, and environmental poll...

Clinical trial barriers in neurostimulation for pediatric drug‐resistant epilepsy

Abstract Objective The NeuroPace responsive neurostimulation (RNS) System effectively treats focal drug‐resistant epilepsy (DRE) in adults but lacks pediatric regulatory approval. Despite effective off‐label pediatric use, systemic device‐trial challenges have impeded label expan...

Applying Natural Language Processing to Address Healthcare Bias: Using CARE-SD to Evaluate the Distribution of Stigmatizing Language in Clinical Notes

Electronic health records (EHRs) are a critical medium through which patient stigmatization is perpetuated among healthcare teams. We identified doubt markers and stigmatizing labels in MIMIC-III, a de-identified EHR, via expanded lexicon matching and machine learning classifiers...