A5048168596- Cardiomyopathy and Myosin Studies
- Studies on Chitinases and Chitosanases
- GDF15 and Related Biomarkers
- Cardiovascular Function and Risk Factors
- Mechanical Circulatory Support Devices
- Galectins and Cancer Biology
- BRCA gene mutations in cancer
- Cardiac Structural Anomalies and Repair
- Telemedicine and Telehealth Implementation
- RNA Research and Splicing
- Endometrial and Cervical Cancer Treatments
- Autism Spectrum Disorder Research
- Cardiac Fibrosis and Remodeling
- Congenital heart defects research
- Gene expression and cancer classification
- Cardiac Arrest and Resuscitation
- Supercapacitor Materials and Fabrication
- Parathyroid Disorders and Treatments
- Congenital Heart Disease Studies
- Cell Adhesion Molecules Research
- Heterotopic Ossification and Related Conditions
- Bacteriophages and microbial interactions
- Bioinformatics and Genomic Networks
- Dermatological and Skeletal Disorders
- Cardiovascular Effects of Exercise
Columbia University Irving Medical Center
2021-2025
Columbia University
2022-2023
Presbyterian Hospital
2022
University of Pennsylvania
2017-2019
Cornell University
2015-2016
University of California, Berkeley
2012
Background: Truncating variants in the Titin gene (TTNtvs) are common individuals with idiopathic dilated cardiomyopathy (DCM). However, a comprehensive genomics-first evaluation of impact TTNtvs different clinical contexts, and modifiers such as genetic ancestry, has not been performed. Methods: We reviewed whole exome sequence data for >71 000 (61 040 from Geisinger MyCode Community Health Initiative (2007 to present) 10 273 PennMedicine BioBank (2013 identify anyone TTNtvs. further...
Hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in elderly individuals of African ancestry. The clinical associations carrying variant, its effect other ancestry populations including Hispanic/Latino individuals, and rates achieving a diagnosis carriers are unknown.To assess association between identify hATTR-CM among with failure.Cross-sectional analysis noncarriers aged 50 years or...
Gene translocations play an important role in the plasticity and evolution of bacterial genomes. In this study, we investigated impact on gene regulation three genome organizational features that can be altered by translocations: (i) chromosome position; (ii) orientation; (iii) distance between a target its transcription factor ('target-TF distance'). Specifically, quantified effect these constitutive expression, binding and/or expression noise using synthetic network Escherichia coli...
Background: Hypertrophic cardiomyopathy (HCM) is caused by mutations in the genes coding for proteins essential normal myocardial contraction. However, it remains unclear through which molecular pathways gene mediate development of HCM. The objectives were to determine plasma protein biomarkers HCM and reveal differentially regulated Methods: We conducted a multicenter case-control study cases with controls hypertensive left ventricular hypertrophy. performed proteomics profiling 1681...
Hypertrophic cardiomyopathy (HCM) is a heterogeneous disease, likely encompassing several subtypes of disease with distinct biological mechanisms (ie, molecular subtypes). Current models based solely on clinical data have yielded limited accuracy in predicting the risk major adverse cardiovascular events (MACE). Our aim this study was to derive our multicentre prospective cohort patients HCM using proteomics profiling and examine their longitudinal associations MACE.
Objective Heart failure (HF) is one of the most common and lifestyle-limiting complications hypertrophic cardiomyopathy (HCM). Prediction worsening HF using clinical measures alone remains limited. Moreover, mechanisms by which patients with HCM develop have not been elucidated. Therefore, aim this study was to a plasma proteomics-based model predict among identify signalling pathways that are differentially regulated in those who subsequently HF. Methods In multi-centre, prospective cohort...
Background: Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes coding for proteins essential myocardial contraction. However, it remains unclear through which signaling pathways these gene mediate HCM pathogenesis. Growing evidence indicates that microRNAs (miRNAs) play an important role the regulation of expression. We hypothesized transcriptomics profiling plasma miRNAs would reveal circulating biomarkers and dysregulated HCM. Methods: conducted a multicenter case-control...
<h3>Objective</h3> To determine clinical outcomes in patients with stage IA polyp-limited versus endometrium-limited high-grade (type II) endometrial carcinoma (EC). <h3>Methods</h3> We identified all cases of or EC (FIGO grade 3 endometrioid, serous, clear cell, mixed) who underwent simple hysterectomy, bilateral salpingo-oophorectomy, peritoneal washings, omental biopsy, and pelvic para-aortic lymph node dissection received adjuvant treatment at our institution from October 1995 to...
Early right heart failure (RHF) occurs in up to 40% of patients following left ventricular assist device (LVAD) implantation and is associated with increased morbidity mortality. The most recent report from the Mechanical Circulatory Support-Academic Research Consortium (MCS-ARC) working group subdivides early RHF into acute postimplant RHF. We sought determine effectiveness (RV) longitudinal strain (LS) predicting according new MCS-ARC definition. retrospectively analyzed clinical...
Genetic testing can determine family screening strategies and has prognostic diagnostic value in hypertrophic cardiomyopathy (HCM). However, it also pose a significant psychosocial burden. Conventional scoring systems offer modest ability to predict genotype positivity. The aim of our study was develop novel prediction model for positivity patients with HCM by applying machine learning (ML) algorithms.We constructed 3 ML models using readily available clinical cardiac imaging data 102 from...
The COVID-19 pandemic has necessitated the rapid and widespread adoption of novel mechanisms service delivery, including use telemedicine. aim this study was to examine impact on cardiogenetics practices.We retrospectively analyzed clinical characteristics patients who were seen for visits pre-pandemic (1 April-23 December 2019) during 2020) at Columbia University Irving Medical Center.Six percent (n = 6) in 2019 remote telemedicine encounters, whereas 80% 106) 2020 encounters. In 2019, only...
Hypertrophic cardiomyopathy often causes major adverse cardiovascular events (MACE), for example, arrhythmias, stroke, heart failure, and sudden cardiac death. Currently, there are no models available to predict MACE. Furthermore, it remains unclear which signaling pathways mediate Therefore, we aimed prospectively determine protein biomarkers that MACE in hypertrophic identify differentially regulated patients who subsequently develop
Abstract Aims Atrial fibrillation (AF) is the most common sustained arrhythmia among patients with hypertrophic cardiomyopathy (HCM), increasing symptom burden and stroke risk. We aimed to construct a plasma proteomics-based model predict new-onset AF in HCM determine dysregulated signalling pathways. Methods results In this prospective, multi-centre cohort study, we conducted proteomics profiling of 4986 proteins at enrolment. developed machine learning using samples from one institution...
Genes that interact or function together are often clustered in bacterial genomes, and it has been proposed this clustering may affect gene expression. In study, we directly compared expression nonclustered arrangements three common (codirectional, divergent, operon) using synthetic circuits Escherichia coli. We found had minimal effects on Specifically, did not alter constitutive levels stochastic fluctuations ("expression noise"). Remarkably, the of two genes share same chromosome position...
OBJECTIVES/GOALS: Familial Hypercholesterolemia (FH) is a common disorder that vastly underdiagnosed and causes an increased risk for sudden cardiac death. Cardiology providers (CHCPs) are in ideal position to care patients with FH. This research aimed assess the knowledge of CHCPs screening, diagnosis, management METHODS/STUDY POPULATION: Adaptation existing tool guided survey development. FH domains included description FH, prognosis, prevalence, inheritance, diagnostic criteria, options....
Abstract Background Hypertrophic cardiomyopathy (HCM) is caused by mutations in the genes coding for proteins essential normal myocardial contraction. However, it remains unclear through which molecular pathways gene mediate development and progression of HCM. Purpose To determine protein biomarkers that are differentially regulated HCM correlated with disease severity. Methods We conducted a multicenter case-control study cases controls hypertensive left ventricular hypertrophy. carried out...