Publications by authors named "C J Rizzo"
Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.
Front Genet
December 2024
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
Objectives: To report the occurrence of the regression of the flow signal from the neovascular network in macular neovascularizations (MNVs), developing in the context of age-related macular degeneration (AMD), treated with faricimab in a treat-and-extend regimen.
Methods: Eyes affected by AMD-related MNV and treated with faricimab intravitreal injections in a treat-and-extend (TE) regimen were consecutively retrospectively screened in five specialized retina centers. Changes in neovascular network characteristics during the course of the treatment were analyzed.
Article Synopsis
- Respiratory syncytial virus (RSV) significantly affects adults over 65, leading to hospitalizations and complications, prompting a study in Italy to evaluate its impact in primary care settings.
- The study involved 152 older patients with acute respiratory infections, finding that 21.7% tested positive for RSV, with a median illness duration of 14 days and a high rate of further healthcare consultations.
- The results underline the importance of an RSV surveillance system for older adults to improve vaccination strategies and inform public health planning, showcasing the need for cost-effectiveness evaluations in managing healthcare resources.
Ready or Not? The Emergency Preparedness State-of-art Among Italian Public Health Medical Residents.
Disaster Med Public Health Prep
November 2024
Article Synopsis
- Italy faces significant challenges like natural disasters and migrant crises, prompting the need to assess public health training responsiveness to these issues.
- A survey conducted among public health residents in June 2023 revealed strong interest in emergency training, with a high percentage acknowledging its importance but noting a lack of dedicated courses.
- The findings emphasize the necessity for improved emergency training programs in Italy's public health schools to properly prepare professionals for crisis situations.