A5081693957- melanin and skin pigmentation
- Biochemical Analysis and Sensing Techniques
- CRISPR and Genetic Engineering
- Virus-based gene therapy research
- Hernia repair and management
- RNA and protein synthesis mechanisms
- Infectious Disease Case Reports and Treatments
- Aortic Disease and Treatment Approaches
- Surgical Simulation and Training
- Congenital Diaphragmatic Hernia Studies
- Infectious Aortic and Vascular Conditions
- RNA regulation and disease
- Viral Infections and Immunology Research
- Diversity and Career in Medicine
- Childhood Cancer Survivors' Quality of Life
- Ergonomics and Musculoskeletal Disorders
- Peptidase Inhibition and Analysis
- Innovations in Medical Education
- Aortic aneurysm repair treatments
- Healthcare professionals’ stress and burnout
- Safety Warnings and Signage
- Infective Endocarditis Diagnosis and Management
- Human-Automation Interaction and Safety
- Advanced Glycation End Products research
- 3D Printing in Biomedical Research
Children's Hospital of Philadelphia
2024
University of Maryland Medical Center
2022-2024
University of Maryland, Baltimore
2022-2024
Philadelphia University
2019
National Institutes of Health
2016-2018
National Eye Institute
2016-2018
Wake Forest University
2016
Monogenic blood diseases are among the most common genetic disorders worldwide. These result in significant pediatric and adult morbidity, some can death prior to birth. Novel ex vivo hematopoietic stem cell (HSC) gene editing therapies hold tremendous promise alter therapeutic landscape but not without potential limitations. In offer a potentially safer more accessible treatment for these hindered by lack of delivery vectors targeting HSCs, which reside difficult-to-access bone marrow...
Summary Oculocutaneous albinism type 1 ( OCA 1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of have been described: severe 1A with complete absence activity and less 1B residual activity. Here, we characterize recombinant human intramelanosomal domain mutant variants, which mimic genetic changes both patients. Proteins were prepared using site‐directed mutagenesis, expressed insect larvae, purified chromatography, characterized enzymatic...
Motor vehicle crashes are a leading cause of preventable death in the United States, but properly used child safety seats significantly reduce risk injury and mortality. In-person car seat installation programs were suspended during COVID-19 pandemic, prompting development virtual alternatives. However, effectiveness these remains unknown. The study aims to evaluate check program on parental satisfaction, perceived value, confidence, correct installation. This single-center retrospective...
Human tyrosinase (hTyr) is a Type 1 membrane bound glycoenzyme that catalyzes the initial and rate-limiting steps of melanin production in melanosome. Mutations Tyr gene are linked to oculocutaneous albinism type (OCA1), an autosomal recessive disorder. Currently, application enzyme replacement therapy for treatment OCA1 hampered by absence pure hTyr. Here, full-length hTyr (residues 1–529) was overexpressed Trichoplusia ni larvae infected with baculovirus, solubilized detergent purified...
Actinomyces europeaeus and Actinotignum schaalii are two facultative anaerobes that common contaminants of human flora; namely the urinary tract, female genital tract gastrointestinal tract. A. has been linked with abscesses, decubitus ulcers purulent urethritis, while associated infections, bacteremia Fournier's gangrene. Here we present a case report an 84-year-old patient found to have necrotizing soft tissue infection caused by schaalii. To our knowledge, this is first documents as...
In utero gene editing (IUGE) is a potential treatment for inherited diseases that cause pathology before or soon after birth. Preexisting immunity to adeno-associated virus (AAV) vectors and Cas9 endonuclease may limit postnatal editing. The tolerogenic fetal immune system minimizes barrier IUGE. However, the ability of maternal remains question. We investigated whether preexisting AAV impairs Using combination fluorescent reporter mice murine model metabolic liver disease, we demonstrated...
To date, emergent total endovascular aortic arch repair has not been described in the literature. We present a 67-year-old female with poorly differentiated posterior mediastinal sarcoma. Imaging obtained was concerning for intravascular extension of tumor into thoracic aorta. While awaiting radiation therapy, patient complained worsening chest and arm pain, vital signs demonstrating tachypnea hypoxia. Subsequent imaging revealed an increase vascular erosion, contained rupture, complete...
Post‐transcriptional modifications of tRNA are found in all organisms and critical for their structure function during translation. 2‐thiouridine (s 2 U) modification at the wobble position Glu, Gln, Lys is required accurate efficient protein synthesis its absence impacts cellular viability. In addition to role translation, yeast, s U used as a sensor gauge nutrient availability regulate translational capacity amino acid homeostasis, which abundance reflects sulfur‐containing acids, cysteine...
Human tyrosinase, a protein involved in the melanogenesis pathway, has various mutations its corresponding gene (TYR) which have been linked to Oculocutaneous Albinism type 1 (OCA1), an autosomal recessive disease. Naturally, this inherited disorder leads decreased melanocyte pigmentation accompanied by variousvisual dysfunction. Recombinant human tyrosinase was individually overexpressed whole Trichoplusia ni (T. ni) larvae. Purification of catalytically active achieved through immobilized...
Inguinal hernias are a common problem in premature infants, with incidence increasing as the gestational age decreases. Direct inguinal rare infants minimal documentation medical literature. We present case of infant who was found to have direct hernia containing bladder during laparoscopic repairs. The patient 25-week admitted neonatal intensive care unit. At 3-months old, pediatric surgery consulted for bilateral hernias. Intraoperatively, visualization demonstrated typical left indirect...