A5076467628- Neurogenetic and Muscular Disorders Research
- Virus-based gene therapy research
- Muscle Physiology and Disorders
- Global Health Workforce Issues
- Tracheal and airway disorders
- Neonatal Respiratory Health Research
- Parvovirus B19 Infection Studies
- Diversity and Career in Medicine
- IL-33, ST2, and ILC Pathways
- Asthma and respiratory diseases
- Congenital Diaphragmatic Hernia Studies
- Energy Harvesting in Wireless Networks
- Dysphagia Assessment and Management
- Viral Infections and Immunology Research
- Viral gastroenteritis research and epidemiology
- Global Health and Surgery
- Pain Management and Treatment
- Health and Medical Research Impacts
- Congenital Heart Disease Studies
- Eosinophilic Esophagitis
- Lysosomal Storage Disorders Research
- Cardiovascular and exercise physiology
- Transcranial Magnetic Stimulation Studies
- Cardiovascular Effects of Exercise
- Congenital Anomalies and Fetal Surgery
University of Florida
2019-2025
Florida College
2022-2025
Gainesville Obstetrics & Gynecology
2024
Epilepsy Foundation
2023
Boston Children's Hospital
2018-2019
Harvard University
2018-2019
Texas Children's Hospital
2018
Cincinnati Children's Hospital Medical Center
2018
University of Cincinnati
2018
BACKGROUND. Systemic administration of Adeno-associated virus (AAV) can trigger life-threatening inflammatory responses including thrombotic microangiopathy (TMA), acute kidney injury due to atypical hemolytic uremic syndrome (aHUS)-like complement activation, immune-mediated myocardial inflammation and hepatic toxicity.
Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disease caused by pathogenic variants in the DMD gene that result absence of functional dystrophin, beginning at birth and leading to progressive impaired motor function, loss ambulation life-threatening cardiorespiratory complications. Delandistrogene moxeparvovec, an adeno-associated rh74-viral vector-based therapy, addresses absent dystrophin DMD. Here phase 3 EMBARK study aimed assess efficacy safety delandistrogene...
Abstract Background Dysphagia is a common feature of the natural history patients with spinal muscular atrophy (SMA). Literature regarding swallowing safety and efficiency scarce in SMA, particularly era newborn screening programs disease‐modifying therapies. Objective To describe longitudinal changes children SMA who received one or more disease modifying therapies Methods Case series followed at University Florida from 1 May 2019 to 31 December 2022 had two videofluoroscopy studies (VFSS),...
Background: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder that in its most severe form, causes profound swallowing deficits. There remains paucity of research systematically elucidating the biomechanical and functional correlates. This void limits ability to evaluate effects disease-modifying treatments on swallowing. Objective: Elucidate characteristics biomechanics function among untreated patients with SMA. Methods: Infants SMA who had not received disease...
Background: Cardiopulmonary exercise testing (CPET) is the gold-standard for quantification of peak oxygen uptake (VO 2 ) and cardiorespiratory muscle responses to exercise. Its application Duchenne muscular dystrophy (DMD) has been scarce due notion that weakness inherent disease restricts system from reaching maximal capacity. Objective: To investigate utility CPET in DMD by 1) establishing whether patients can perform maximal-effort valid VO assessment; 2) quantifying repeatability; 3)...
Background The application of recombinant adeno associated virus (rAAV) in gene therapy is accepted as an effective strategy for the treatment monogenic diseases. However, eligibility such therapies contingent upon absence or minimal presence antibodies against adeno-associated (AAV) capsid protein. While passive transfer maternal immunoglobulins utero well established, potential impact transferred via breastfeeding remains less explored. Objective This study aims to quantify and compare...
Abstract: Health professions education is one of the pillars academic medicine; however, clinical educators often lack appropriate resources to succeed in this field. Examples these challenges include: support for faculty development, mentorship, and high cost resources, when available. In addition, such as Coronavirus disease (COVID-19) pandemic can affect healthcare personnel who are already struggling provide adequate patient care while attempting role educator supervisor trainees....
Introduction Pompe disease is an inherited characterized by a deficit in acid-α-glucosidase (GAA), enzyme which degrades lysosomal glycogen. The phrenic-diaphragm motor system affected preferentially, and respiratory failure often occurs despite GAA replacement therapy. We hypothesized that the continued use of diaphragm pacing (DP) might improve ventilator-dependent subjects' outcomes increase ventilator-free time tolerance. Methods Six patients (3 pediatric) underwent clinical DP...
Laryngomalacia is a common cause of chronic noisy breathing that can present as stridor in infants and neonates. Mild cases laryngomalacia are usually followed clinically managed conservatively. However, the evaluation diagnosis could be challenging some patients. We case 3-week-old male infant with persistent worsening breathing, snoring, poor weight gain, prompting further evaluation. The patient had an initial obstructive sleep apnea complete resolution loud continuous positive airway...
The American Thoracic Society Core Curriculum updates clinicians annually in pediatric pulmonary disease. This is a summary of the Pediatric Pulmonary Medicine presented at 2023 International Conference. respiratory disorders infancy discussed this year's review include: care patient with bronchopulmonary dysplasia neonatal intensive unit, clinical phenotypes and comorbidities; diffuse lung disease; hypertension; central obstructive sleep apnea. infants often poses significant challenges to...
Background: Duchenne muscular dystrophy (DMD) is caused by DMD gene mutations. Delandistrogene moxeparvovec an investigational transfer therapy, developed to address the underlying cause of DMD. We report findings from Part 1 (52 weeks) two-part EMBARK trial (NCT05096221). Methods: Key inclusion criteria: Ambulatory patients aged ≥4-<8 years with a confirmed mutation within exons 18–79 (inclusive); North Star Assessment (NSAA) score >16 and <29 at screening. Eligible were randomized...
Background/Purpose: Duchenne muscular dystrophy (DMD) is caused by DMD gene mutations. Delandistrogene moxeparvovec an adeno-associated viral vector-based transfer therapy, designed to compensate for absent functional dystrophin in delivering a transgene encoding engineered micro-dystrophin, which retains key wild-type domains. As of September 2023, delandistrogene approved the United States, UAE, and Qatar treatment ambulatory pediatric patients aged 4 through 5 years with confirmed...
The Interleukin-4 receptor alpha chain variant R576 (IL-4Ra-R576) is associated with severe asthma characterized by a mixed TH2-TH17 response. Past research demonstrated that treatment of Il4raR576 mice anti-IL-6 antibody protected against airway inflammation. We analyzed the response two patients persistent IL4RR576allelic treated tocilizumab. Patient 1: 6-year-old persistent, non-atopic homozygous IL4RR576 variant. He had ongoing exacerbations despite ICS/LABA, montelukast, prednisolone,...
This Viewpoint discusses considers social, political, economic, and personal/family factors for international medical graduates as they decide what to do after completing training in the United States.
Spinal muscular atrophy (SMA) is a rare genetic disease that results in progressive neuromuscular weakness. Without therapy, the most common form of disease, type 1, typically death or chronic respiratory failure first 2 years life. Thanks to recent introduction newborn screening programs and discovery three disease-modifying therapies last decade, outcomes children with SMA have dramatically improved. Patients are able achieve many, if not all, typical neuromotor milestones, such as...