Publications by authors named "J Wawrzynski"
Introduction: We designed a race-conscious study to assess the presence of Helicobacter pylori v irulence factor cagA in a retrospective cohort of patients with active H. pylori infection.
Methods: We compared cagA status by race in gastric tissue samples from 473 patients diagnosed with active H.
Purpose Of Review: This paper provides an update on intravitreal (IVT) enzyme replacement therapy (ERT) in metabolic retinal diseases; particularly neuronal ceroid lipofuscinosis type 2 (CLN2) also known as Batten disease.
Recent Findings: ERT is being explored in CLN2 related Batten disease, a fatal neurodegenerative condition associated with retinopathy and blindness that is caused by the deficiency of lysosomal enzyme TPP1. Cerliponase alfa, a recombinant human tripeptidyl-peptidase1 (rhTPP1) administered by intraventricular infusions has been demonstrated to slow the rate of neurodegenerative decline but not retinopathy.
Background/objectives: CLN2 Batten Disease is a fatal neurodegenerative condition of childhood associated with retinal dystrophy and blindness. Intracerebroventricular infusion of rhTPP1 greatly slows the rate of neurodegenerative decline but not retinopathy. Intravitreal rhTPP1 is known to slow retinal degeneration in a canine model of CLN2.
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- Deafness impacts 5% of the global population, and current treatments for genetic hearing loss are largely lacking, particularly for disorders like Norrie disease, which is caused by mutations in the NDP gene and leads to dual sensory deprivation.
- Researchers utilized a Norrie disease mouse model to test a gene therapy approach, delivering the human NDP cDNA through an adeno-associated viral vector (AAV)9 at various developmental stages.
- Neonatal treatment showed promising results, preventing cochlear hair cell death and restoring both auditory function and retinal health, indicating potential for effective clinical therapy for Norrie disease-related hearing loss.