A5008740162- Cystic Fibrosis Research Advances
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Hemophilia Treatment and Research
- Neonatal Respiratory Health Research
- Neurogenetic and Muscular Disorders Research
- Plant Molecular Biology Research
- Virus-based gene therapy research
- Plant Reproductive Biology
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Biochemical and Molecular Research
- Genetics and Neurodevelopmental Disorders
- Plant Gene Expression Analysis
- Viral Infectious Diseases and Gene Expression in Insects
- Mitochondrial Function and Pathology
- Respiratory viral infections research
- Kawasaki Disease and Coronary Complications
- Dysphagia Assessment and Management
- Fetal and Pediatric Neurological Disorders
- Carbohydrate Chemistry and Synthesis
- Cerebrospinal fluid and hydrocephalus
- Diet and metabolism studies
- Antifungal resistance and susceptibility
Case Western Reserve University
2016-2024
Duke University
2018-2023
University of North Carolina at Chapel Hill
2008-2022
Duke Medical Center
2020-2022
University Hospitals of Cleveland
2019-2021
Center for Human Genetics
2019-2021
Piedmont International University
2018
Lung Institute
2018
<h3>Context</h3>A subset (≈ 3%-5%) of patients with cystic fibrosis (CF) develops severe liver disease portal hypertension.<h3>Objective</h3>To assess whether any 9 polymorphisms in 5 candidate genes (α<sub>1</sub>-antitrypsin or α<sub>1</sub>-antiprotease [SERPINA1], angiotensin-converting enzyme [ACE], glutathione S-transferase [GSTP1], mannose-binding lectin 2 [MBL2], and transforming growth factor β1 [TGFB1]) are associated CF.<h3>Design, Setting, Participants</h3>Two-stage case-control...
Vector capsid dose-dependent inflammation of transduced liver has limited the ability adeno-associated virus (AAV) factor IX (FIX) gene therapy vectors to reliably convert severe mild hemophilia B in human clinical trials. These trials also identified need understand AAV neutralizing antibodies and empty capsids regarding their impact on success. To address these safety concerns, we have used a scalable manufacturing process produce GMP-grade AAV8 expressing FIXR338L gain-of-function variant...
Thirteen auxenic compounds were discovered in a screen of 10 000 for auxin-like activity Arabidopsis roots.One the most potent substances was 2-(4-chloro-2-methylphenoxy)-N-(4-H-1,2,4-triazol-3-yl)acetamide (WH7) which shares similar structure to known herbicide 2,4-dichlorophenoxyacetic acid (2,4-D).A selected set 20 analogues WH7 used provide detailed information about structure-activity relationship based on their efficacy at inhibiting and stimulating root shoot growth, respectively,...
Abstract While joint damage is the primary co-morbidity of hemophilia, osteoporosis and osteopenia are also observed. Coagulation factor VIII deficient (FVIII −/− ) mice develop an osteoporotic phenotype in absence induced hemarthrosis that exacerbated two weeks after injury. Here we have compared comprehensively bone health clotting VIII, IX, Von Willebrand Factor knockout , FIX VWF respectively) both hemorrhage following We found FVIII mice, but not developmentally phenotype. Unilateral...
Previous reports of lung function in cystic fibrosis (CF) patients with liver disease have shown worse, similar, or even better forced expiratory volume 1 second (FEV1), compared to CF without disease. Varying definitions likely contribute these inconsistent relationships reported between and We retrospectively evaluated spirometric data 179 subjects (62% male; 58% Phe508del homozygous) severe (CFLD; defined by presence portal hypertension due cirrhosis). FEV1 values were referenced both a...
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now better understanding the natural history PA in this population. Here describe two patients emergent presentations PA, one metabolic decompensation and another cardiogenic shock. can present life-threatening or an adult-onset severe cardiomyopathy. We discuss critical clinical implications observation.
Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals. Although Cryptococcus neoformans is known to urease-producing, our knowledge it has not previously been described as a cause hyperammonemia patients. We report an man with acute on chronic kidney disease crisis due Cryptococcal meningitis and fungemia. It important aware C. possible hyperammonemia.
Although inflammatory bowel disease is a well-described feature of glycogen storage type Ib, it has been reported in only small number individuals with Ia (GSDIa). We describe, to our knowledge, the first patient GSDIa and very early-onset (VEO-IBD). Larger studies are needed better understand this possible association, elucidate mechanism VEO-IBD GSDIa, inform management.
Abstract There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, laboratory radiographic findings important in diagnosis. Herein, we present case Wolman disease presenting as hepatosplenomegaly an infant. This details learning points help distinguish the from other conditions overlapping clinical features, such hemophagocytic lymphohistiocytosis (HLH). The advent enzyme...
This report outlines the course of a patient with Campylobacter fetus bacteremia complicated by carotid artery pseudoaneurysm after exposure to ill cattle. is first C. fetus–associated pseudoaneurysm. Furthermore, there concurrence renal aneurysm, and concurrent aneurysms in individuals have been reported only small number times. The unusual exposures this vascular manifestations give insight into natural history bacteremia. case emphasizes importance low threshold for imaging patients who...
Abstract Late‐onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment enzyme replacement therapy (ERT), that lifesaving, yet limitations. Clinical trials have emerged for other potential options, including adeno‐associated virus (AAV) gene therapy. We present clinical parameters and AAV antibody titers 19 individuals LOPD undergoing screening Phase I trial an serotype 8 vector targeting hepatic transduction (AAV2/8‐LSPhGAA). Reported included...
A 64-year-old man initially presented to another hospital with left-sided weakness, dysarthria, and dysphagia. He had no previous stroke-like events. magnetic resonance imaging (MRI) scan at that time showed a large lesion in the right hemisphere hyperintensity on diffusion-weighted sequences (Fig A), restricted diffusion apparent coefficient (ADC; Fig B), fluid-attenuated inversion recovery (FLAIR) C). Workup was notable for patent foramen ovale (PFO). started anticoagulation plans delayed...