![]()
0 Comments
![]() 2 IRDs related to mutations involving the RPE65 gene are characterized by a progressive loss of photoreceptor cells and visual function impairment, resulting in an irreversible visual decline 3 and potential blindness 4 retinitis pigmentosa (RP) 5 and Leber congenital amaurosis (LCA) 6 are the most common phenotypes. Inherited retinal dystrophies (IRDs) are a group of genetically and clinically heterogeneous degenerative conditions 1 affecting approximately 1 in 2–3000 people worldwide. Keywords: IRDs management, multidisciplinary, inherited retinal dystrophies, diagnosis, patient’s pathway The analysis explored the patient’s pathway in Italy and confirmed the need for a well-organized network and multidisciplinary care while highlighting several preliminary areas of improvement in the management of RPE65-related IRDs. Well-organized networks to support the patient’s referral to specialized centers – as well as a proper communication of the clinical and genetic diagnosis and the multidisciplinary approach – emerge as crucial aspects in facilitating an early diagnosis and management and a timely initiation of the rehabilitation pathway.Ĭonclusion: The project investigated the RPE65-related IRDs care pathway while integrating the different perspectives involved through NM. Despite the oftentimes lack of awareness of patients and caregivers on the purpose of genetic testing, participants generally consider gene therapy as a therapeutic chance and a historic breakthrough for the management of RPE65-related IRDs. Early diagnosis remains challenging, and patients reported to have changed up to 10 healthcare professionals before accessing their specialized center. Results: Three pediatric and five adult patients with early-onset RPE65-related IRDs as well as eight caregivers were enrolled 11 retinologists globally wrote 27 parallel charts in-depth interviews were done with five multidisciplinary healthcare professionals and one PA member. All data were entered into the Nvivo Software for coding and analysis. In-depth interviews were conducted with Patient Association (PA) members and multidisciplinary healthcare professionals. Narratives and parallel charts, together with a sociodemographic survey, were collected through the project webpage. Patients and Methods: This project was conducted between July and December 2020, involving five Italian eye clinics specialized in IRDs, targeted pediatric and adult patients, their caregivers, attending retinologists and multidisciplinary healthcare professionals. ![]() Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients, caregivers, and healthcare professionals. Purpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. ![]() Healthcare Department, Fondazione ISTUD, via Paolo Lomazzo 19, Milano, 20124, Italy Meyer”, University of Florence, Florence, Italy 6Ophthalmology Department, Bambino Gesù IRCCS Paediatric Hospital, Rome, Italy 7Retina Italia Onlus Association, Milan, Italy 8Healthcare Department, Fondazione ISTUD, Milan, Italy 9Medical Department, Novartis Farma, Origgio, Italy Gemelli IRCCS, Rome, Italy 4Dipartimento Testa-collo e organi di senso, Università Cattolica del Sacro Cuore, Rome, Italy 5Paediatric Ophthalmology Unit, Children’s Hospital “A. Vanvitelli”, Naples, Italy 2Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy 3UOC Oftalmologia, Fondazione Policlinico Universitario A. Francesca Simonelli, 1 Andrea Sodi, 2 Benedetto Falsini, 3, 4 Giacomo Bacci, 5 Giancarlo Iarossi, 6 Valentina Di Iorio, 1 Dario Giorgio, 2 Giorgio Placidi, 3, 4 Assia Andrao, 7 Luigi Reale, 8 Alessandra Fiorencis, 8 Manar Aoun 9ġEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “L. ![]() there is also a summary of attendance requirements at the back. Buy Bilstein BE5-2790 Heavy-Duty Gas Shock Absorber: Shocks & Struts - ✓ FREE DELIVERY possible on eligible purchases. GOOD MATERIAL:The cello peg is made of ebony which has long service life, Sizes: Small (5" x 8") Med (6" x 9"). Buy LED Box Sign - "USA Flag" 18" x 10": Window Display Signs - ✓ FREE DELIVERY possible on eligible purchases, the industry leading testing laboratory. ✦German Machine Weaving✦ Adopting imported German machine weaving technology. The little planters are suitable for decorate garden desk. Manufactured with multiple alloys for improved heat dissipation and performance. It could be a war story or a Western or anything, Limited Quantities of Each Print. Vintage 80s white pastel BLACK & WHITE big spellout ringer.
![]() Gordon Art Department Coordinator Illusion Arts Visual Effects Isaac D. Properties Master Eugene Starzenski Set Medic/First Aid Frank Capra, III Assistant Director, Co-producer Frank Capra, III Assistant Director, Co-producer Fumi Mashimo Visual Effects Galadriel Thompson Research Gayle Levant Musical Performer Gayle Wesley First Assistant Sound Editor Glynna Grimala Foley Supervisor Greg Anderson Visual Effects Greg Steele ADR Mixer Harry Wowchuk Stunts Henry Humphreys Set Medic/First Aid Hubie Kerns Jr. ![]() ![]() Siegel Unit Production Manager David Major Stunts Dawn Perlin Personal Assistant Dean Bailey Stunts Debbie Travis Costume/Wardrobe Deena Adair Hair Styles Deideric Irving Set Medic/First Aid Demetricus Holloway Costume/Wardrobe Donald Frazee Special Effects Coordinator Doug DuRose Assistant Properties Eric Layne Production Accountant Eugene McCarthy Jr. Relyea Second Assistant Director Brian Feola Properties Maker Foreman Brian Pezzone Musical Performer Brinton Jaecks Visual Effects Bryan Bowen Sound Editor Bryan Davis Production Secretary Buddy Sosthand Stunts Casey Conroy Visual Effects Catherine Sudolcan Visual Effects Cathie Valdovino Costume/Wardrobe Chet Badalato Personal Assistant Chris Botti Musical Performer Chris Bustard Extra Casting Chris Scott Personal Assistant Collin Fowler Visual Effects Corinne Villa Visual Effects Editor Craig O'Brien Stunts Craig Zadan Producer Dan Miller Assistant Editor Dana Baker Best Boy Grip Dave Christensen Chief Lighting Technician Dave Schmalz Video Assist David A. Beard Assistant to the Director Brad Rea Dolly Grip Brett Pierce Assistant Music Editor Brian F. Kim Producer's Assistant Ann Scibelli Sound Editor Austin Priester Stunts Barbara Mesney Set Designer Bill Brzeski Production Designer Bill Higgins Visual Effects Bob Deschaine ADR Mixer Bob Scifo Visual Effects Bostic C. Johnson Elizabeth Dawnn Lewis Flight Attendant Jordan Lund Tattoo Artist Richard McGonagle Board Chairman Jonathan Mangum Richard Karen Maruyama Nurse Shing Amber Mead Attractive Woman #1 Nikki Novak Attractive Woman #2 John O'Brien Executive #1 Serena Reeder Rachel Christopher Stapleton Kyle Taylor Ann Thompson Edward's Granddaughter Alex Trebek Alex Trebek Roy Vongtama Doctor #1 Crew Rob Reiner Director, Producer Alan Greisman Producer Alex Daniels Stunts Coordinator Alice S. Kai Verda Bridges Chandra Destiny Brownridge Maya Brian Copeland Lee Ian Anthony Dale Instructor Jennifer DeFrancisco Emily Angela Gardner Female Administrator Noel Guglielmi Mechanic Jonathan Hernandez Manny Hugh B. Cast Jack Nicholson Edward Cole Morgan Freeman Carter Chambers Sean Hayes Thomas Beverly Todd Virginia Chambers Alfonso Freeman Roger Rowena King Angelica Rob Morrow Dr. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |