A5016155997- Complement system in diseases
- Platelet Disorders and Treatments
- COVID-19 Clinical Research Studies
- Renal Diseases and Glomerulopathies
- Blood groups and transfusion
- Genetic Associations and Epidemiology
- Blood Coagulation and Thrombosis Mechanisms
- Systemic Lupus Erythematosus Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- SARS-CoV-2 and COVID-19 Research
- Autism Spectrum Disorder Research
- Multiple Myeloma Research and Treatments
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Erythropoietin and Anemia Treatment
- Hemoglobinopathies and Related Disorders
- Williams Syndrome Research
- Erythrocyte Function and Pathophysiology
- Obsessive-Compulsive Spectrum Disorders
- Heparin-Induced Thrombocytopenia and Thrombosis
- Adenosine and Purinergic Signaling
- Venous Thromboembolism Diagnosis and Management
- Hemophilia Treatment and Research
- Diabetes Treatment and Management
- Genital Health and Disease
- Urologic and reproductive health conditions
Johns Hopkins Medicine
2020-2025
Johns Hopkins University
2020-2025
University of Baltimore
2024-2025
Johns Hopkins Hospital
2024
Presbyterian Hospital
2019
New York Hospital Queens
2019
NewYork–Presbyterian Hospital
2019
Cornell University
2019
Massachusetts General Hospital
2013-2018
Memorial Sloan Kettering Cancer Center
2014
Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex remains elusive. The authors report a combined genome-wide association study (GWAS) OCD. Method: conducted GWAS in 2,723 cases (1,310 with OCD, 834 syndrome, 579 OCD plus syndrome/chronic tics), 5,667 ancestry-matched controls, 290...
Abstract Complement inhibition has shown promise in various disorders, including COVID‐19. A prediction tool complement genetic variants is vital. This study aims to identify crucial complement‐related and determine an optimal pattern for accurate disease outcome prediction. Genetic data from 204 COVID‐19 patients hospitalized between April 2020 2021 at three referral centres were analysed using artificial intelligence‐based algorithm predict (ICU vs. non‐ICU admission). recently introduced...
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) may manifest as thrombosis, stroke, renal failure, myocardial infarction, and thrombocytopenia, reminiscent of other complement- mediated diseases. Multiple clinical preclinical studies have implicated complement in the pathogenesis COVID-19 illness. We previously found that SARS-CoV-2 spike protein activates alternative pathway (APC) vitro through interfering with function factor H, a key negative regulator APC. Here, we...
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematologic disease characterized by complement-mediated hemolysis and thrombosis. Complement component 5 (C5) inhibitors have decreased PNH-related thrombosis rates reduced mortality compared with those of age-matched controls. A small but significantly increased risk life-threatening
Severe COVID-19 is characterized by a prothrombotic state associated with thrombocytopenia, microvascular thrombosis being almost invariably present in the lung and other organs at postmortem examination. We evaluated presence of antibodies to platelet factor 4 (PF4)-polyanion complexes using clinically validated immunoassay 100 hospitalized patients moderate or severe disease (World Health Organization score, 10), 25 acute visiting emergency department, 65 convalescent individuals. Anti-PF4...
Photoreceptor cell death accompanying many retinal degenerative disorders results in irreversible loss of vision humans. However, the precise molecular pathway that executes is not known. Our from a Drosophila model degeneration corroborate previously reported findings developmental apoptotic involved photoreceptor demise. By undertaking candidate gene approach, we find players immune response against Gram-negative bacteria are degeneration. Here, report NF-κB transcription factor Relish...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection results in coagulation activation although it is usually not associated with consumption coagulopathy. D-dimers are also commonly elevated despite systemic hypofibrinolysis. To understand these unusual features of disease 2019 (COVID-19) coagulopathy, 64 adult patients SARS-CoV-2 (36 moderate and 28 severe) 16 controls were studied. We evaluated the repertoire plasma protease inhibitors (Serpins, Kunitz, Kazal,...
Abstract Functional impairment is one of the most enduring, intractable consequences psychiatric disorders and both familial heritable. Previous studies have suggested that variation in functional can be independent symptom severity. Here we report first genome‐wide association study (GWAS) context major mental illness. Participants European‐American descent (N = 2,246) were included from three large treatment bipolar disorder (STEP‐BD) 765), depressive (STAR*D) 1091), schizophrenia (CATIE)...
Factor XI (FXI) deficiency is an uncommon autosomal disorder with variable bleeding phenotype, making peripartum management challenging. We describe our experience in pregnant women FXI and identify strategies to minimize the use of hemostatic agents increase utilization neuraxial anesthesia. Electronic records 28 seen by a hematology service academic medical center from January 2006 August 2018 were reviewed. Data on bleeding, obstetric history, management, activity collected. Partial was...