A5080115123- Protein Tyrosine Phosphatases
- Genomics and Rare Diseases
- Galectins and Cancer Biology
- Mycobacterium research and diagnosis
- Viral Infections and Immunology Research
- Vector-borne infectious diseases
- Respiratory viral infections research
- Mosquito-borne diseases and control
- Viral Infections and Vectors
- Bacterial Identification and Susceptibility Testing
- Dialysis and Renal Disease Management
- Peptidase Inhibition and Analysis
- T-cell and B-cell Immunology
- Immune Cell Function and Interaction
- Gut microbiota and health
- Genetic factors in colorectal cancer
- Urinary Tract Infections Management
- Genomics and Phylogenetic Studies
- Infective Endocarditis Diagnosis and Management
- Central Venous Catheters and Hemodialysis
- Cytomegalovirus and herpesvirus research
- Cellular transport and secretion
- Bacteriophages and microbial interactions
- Bacterial Infections and Vaccines
- Rheumatoid Arthritis Research and Therapies
University of Rochester Medical Center
2005-2024
University of Rochester
2024
Cosmos Corporation (United States)
2023-2024
Children’s Institute
2018-2023
Uniformed Services University of the Health Sciences
2023
Naval Medical Center San Diego
2011-2022
University of California, San Francisco
2018-2022
University of California, San Diego
2018-2020
Rady Children's Hospital-San Diego
2019
Abbott (Germany)
2019
Metagenomic next-generation sequencing (NGS) of cerebrospinal fluid (CSF) has the potential to identify a broad range pathogens in single test.In 1-year, multicenter, prospective study, we investigated usefulness metagenomic NGS CSF for diagnosis infectious meningitis and encephalitis hospitalized patients. All positive tests on were confirmed by orthogonal laboratory testing. Physician feedback was elicited teleconferences with clinical microbial board surveys. Clinical effect evaluated...
ABSTRACT Chlamydiae are obligate intracellular bacteria that replicate within an inclusion is trafficked to the peri-Golgi region where it fuses with exocytic vesicles. The host and chlamydial proteins regulate trafficking of have not been identified. Since Rab GTPases key regulators membrane trafficking, we examined localization several green fluorescent protein (GFP)-tagged in chlamydia-infected HeLa cells. GFP-Rab4 GFP-Rab11, which function receptor recycling, GFP-Rab1, functions...
Polyclonal antithymocyte globulin (ATG) is widely used as an anti-T-cell agent for induction and treatment of acute cellular rejection in solid organ transplantation. The authors recently demonstrated that rabbit (r) ATG can be combination with plasmapheresis to effectively treat antibody-mediated renal allograft rejection. This observation suggested rATG may have anti-B cell activity.The tested the complement-independent, apoptosis-inducing properties on CD27- naive B cells, CD40...
Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU United States. Although individually rare, there over 6,200 single-gene diseases, which may preclude genetic diagnosis prior admission. Rapid whole genome sequencing is an emerging method of diagnosing conditions time affect management neonates; however, its clinical utility has yet be adequately demonstrated critically ill children. This study evaluates next-generation pediatric critical care.Retrospective...
To investigate the diagnostic and clinical utility of a partially automated reanalysis pipeline, forty-eight cases seriously ill children with suspected genetic disease who did not receive diagnosis upon initial manual analysis whole-genome sequencing (WGS) were reanalyzed at least 1 year later. Clinical natural language processing (CNLP) medical records provided automated, updated patient phenotypes, an system delivered limited lists possible variants for each case. CNLP identified median...
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation rWGS ICU outside neonatal age group is lacking. In this study, we examined cost data retrospectively a cohort 38 regional pediatric (PICU) who received rWGS. We identified seven 17 patients molecular diagnoses had resultant changes management with sufficient clarity...
A group of 61 unselected patients with psoriasis attending a dermatology clinic were studied to determine the prevalence psoriatic arthritis. On defined criteria arthritis was present in 41.6%. Peripheral 15.5%, and sacroiliitis 43%. strong association distal interphalangeal nail dystrophy confirmed. Tissue typing showed B23, 17, Caucasoid psoriatics, while haplotype A1/B8 increased mixed Caucasoid--Negroid psoriatics.
A striking characteristic of a Rab protein is its steady-state localization to the cytosolic surface particular subcellular membrane. In this study, we have undertaken combined bioinformatic and experimental approach examine evolutionary conservation localization. comprehensive primary sequence classification shows that 10 out 11 proteins identified in yeast (Saccharomyces cerevisiae) genome can be grouped within major subclass, each comprising multiple orthologs from diverse species. We...
Pediatric central nervous system (CNS) infections are potentially life-threatening and may incur significant morbidity. Identifying a pathogen is important, both in terms of guiding therapeutic management characterizing prognosis. Usual care testing by culture polymerase chain reaction often unable to identify pathogen. We examined the systematic application metagenomic next-generation sequencing (mNGS) for detecting organisms transcriptomic analysis cerebrospinal fluid (CSF) children with...
Tick-borne encephalitis virus (TBEV) is an emerging pathogen in Europe and Asia. We investigated TBEV Kyrgyzstan by collecting small mammals ticks from diverse localities analyzing them for evidence of infection. found circulating much farther south at higher altitudes than previously reported.
Osteoarticular infections (OAIs) are frequently encountered in children. Treatment may be guided by isolation of a pathogen; however, operative cultures often negative. Metagenomic next-generation sequencing (mNGS) allows for broad and sensitive pathogen detection that is culture-independent. We sought to evaluate the diagnostic utility mNGS comparison culture usual care testing detect pathogens acute osteomyelitis and/or septic arthritis children.This was single-site study use pediatric...
Abstract Background Respiratory syncytial virus (RSV), human metapneumovirus (hMPV), and parainfluenza (PIV) hospitalize many people yearly. Though severe lower respiratory tract disease has been described in children, the elderly, immunocompromised, there is a gap our understanding of RSV, hMPV, PIV hospitalized adults. We sought to evaluate association with requiring noninvasive or mechanical ventilation death adults United States. Methods conducted retrospective, pooled, cross‐sectional...
Abstract Studies of memory T cell differentiation are hampered by a lack quantitative models to test hypotheses in silico before vivo experimentation. We created stochastic computer model CD4+ generation that can simulate and track 101–108 individual lymphocytes over time. Parameters for the were derived from experimental data using naive human cells stimulated vitro. Using discrete event simulation, we identified two key variables heavily influence effector burst size persistent pool size:...
Pediatric stroke can be either hemorrhagic or ischemic, with ∼5% of strokes being caused by genetic coagulopathies. We report an 8 mo old presenting a severe Factor XIII deficiency (OMIM # 613225) in whom rapid whole-genome sequencing identified novel variant the F13A1 gene c.1352_1353delAT (p.His451ArgfsTer29).
Abstract Tick-borne encephalitis virus (TBEV) is an emerging pathogen in Europe and Asia. We investigated TBEV Kyrgyzstan by collecting small mammals ticks from diverse localities analyzing them for evidence of infection. found circulating much farther south at higher altitudes than previously reported.
Genome sequencing was performed on matched normal and tumor tissue from a 6.5-yr-old boy with diagnosis of recurrent medulloblastoma. A pathogenic heterozygous c.432+1G>A canonical splice donor site variant in GNAS detected analysis blood DNA. Analysis DNA showed the same along copy-neutral loss heterozygosity Chromosome 20 encompassing , consistent predicted biallelic specimen. This case strengthens evidence implicating as tumor-suppressor gene medulloblastoma highlights scenario which...