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Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Lawlor MW, et al. Among authors: dowling jj. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. EBioMedicine. 2024. PMID: 38086156 Free PMC article.
Resamirigene bilparvovec (AT132; rAAV8-Des-hMTM1) is an investigational adeno-associated virus (AAV8)-mediated gene replacement therapy designed to deliver MTM1 to skeletal muscle cells and achieve long-term correction of XLMTM-related muscle pathology. The clinical trial …
Resamirigene bilparvovec (AT132; rAAV8-Des-hMTM1) is an investigational adeno-associated virus (AAV8)-mediated gene replacement therapy desi …
Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy.
Chiang J, Xiao L, Nigro E, St-Laurent A, Weinstock L, Law E, Janevski J, Kuyntjes S, Cithiravel N, Tran T, Wolter NE, Gonorazky H, Amin R; SickKids SMA Group. Chiang J, et al. Sleep Med. 2023 Nov;111:161-169. doi: 10.1016/j.sleep.2023.09.019. Epub 2023 Sep 25. Sleep Med. 2023. PMID: 37778092
Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known. ...
Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing a …
Validation of a Fully Automated Hybrid Deep Learning Cardiac Substructure Segmentation Tool for Contouring and Dose Evaluation in Lung Cancer Radiotherapy.
Chin V, Finnegan RN, Chlap P, Otton J, Haidar A, Holloway L, Thwaites DI, Dowling J, Delaney GP, Vinod SK. Chin V, et al. Among authors: dowling j. Clin Oncol (R Coll Radiol). 2023 Jun;35(6):370-381. doi: 10.1016/j.clon.2023.03.005. Epub 2023 Mar 11. Clin Oncol (R Coll Radiol). 2023. PMID: 36964031
This has promising applications in substructure dose calculations of large-scale datasets and for future studies on long-term cardiac toxicity....
This has promising applications in substructure dose calculations of large-scale datasets and for future studies on long-term cardiac …
Childhood-Onset Lupus Nephritis in the Childhood Arthritis and Rheumatology Research Alliance Registry: Short-Term Kidney Status and Variation in Care.
Smitherman EA, Chahine RA, Beukelman T, Lewandowski LB, Rahman AKMF, Wenderfer SE, Curtis JR, Hersh AO; CARRA Registry Investigators. Smitherman EA, et al. Arthritis Care Res (Hoboken). 2023 Jul;75(7):1553-1562. doi: 10.1002/acr.25002. Epub 2023 Feb 12. Arthritis Care Res (Hoboken). 2023. PMID: 36775844
OBJECTIVE: The goal was to characterize short-term kidney status and describe variation in early care utilization in a multicenter cohort of patients with childhood-onset systemic lupus erythematosus (cSLE) and nephritis. ...Additional studies are needed to better understa …
OBJECTIVE: The goal was to characterize short-term kidney status and describe variation in early care utilization in a multicenter co …
First-line options for systemic juvenile idiopathic arthritis treatment: an observational study of Childhood Arthritis and Rheumatology Research Alliance Consensus Treatment Plans.
Beukelman T, Tomlinson G, Nigrovic PA, Dennos A, Del Gaizo V, Jelinek M, Riordan ME, Schanberg LE, Mohan S, Pfeifer E, Kimura Y; CARRA FROST Investigators. Beukelman T, et al. Pediatr Rheumatol Online J. 2022 Dec 8;20(1):113. doi: 10.1186/s12969-022-00768-6. Pediatr Rheumatol Online J. 2022. PMID: 36482434 Free PMC article.
CONCLUSION: Nearly all patients received treatment with biologics during the study period, and 46% of biologic CTP patients did not receive oral GC within the first month of treatment. The majority of patients had favorable short-term clinical outcomes. Increased use of bi …
CONCLUSION: Nearly all patients received treatment with biologics during the study period, and 46% of biologic CTP patients did not receive …
A high-performance method of deep learning for prostate MR-only radiotherapy planning using an optimized Pix2Pix architecture.
Tahri S, Barateau A, Cadin C, Chourak H, Ribault S, Nozahic F, Acosta O, Dowling JA, Greer PB, Largent A, Lafond C, De Crevoisier R, Nunes JC. Tahri S, et al. Among authors: dowling ja. Phys Med. 2022 Nov;103:108-118. doi: 10.1016/j.ejmp.2022.10.003. Epub 2022 Oct 19. Phys Med. 2022. PMID: 36272328
CONCLUSION: The sCT images generated from MRI data with the Pix2Pix architecture had the lowest image errors and similar dose uncertainties (in term of gamma pass-rate and dose-volume histogram metric differences) than other deep learning methods....
CONCLUSION: The sCT images generated from MRI data with the Pix2Pix architecture had the lowest image errors and similar dose uncertainties …
Patient-Reported Outcomes Among Transition-Age Young Adults With Juvenile Idiopathic Arthritis in the Childhood Arthritis and Rheumatology Research Alliance Registry.
Smitherman EA, Chahine RA, Bitencourt N, Rahman AKMF, Lawson EF, Chang JC; CARRA Registry Investigators and CARRA Transition Workgroup. Smitherman EA, et al. J Rheumatol. 2023 Jan;50(1):98-106. doi: 10.3899/jrheum.220514. Epub 2022 Sep 15. J Rheumatol. 2023. PMID: 36109074
METHODS: We included young adults with JIA enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry from 2015 to 2019 with age 18 years at their last clinical site visit. We used data from the CARRA Registry Long-term Follow-up program, which …
METHODS: We included young adults with JIA enrolled in the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry from 2015 …
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Morton SU, et al. Among authors: dowling jj. JAMA Neurol. 2022 Apr 1;79(4):405-413. doi: 10.1001/jamaneurol.2022.0067. JAMA Neurol. 2022. PMID: 35254387 Free PMC article. Review.
CONCLUSIONS AND RELEVANCE: This narrative review summarizes the causes of neonatal hypotonia and the benefits of prompt genetic diagnosis, including improved prognostication and identification of targeted treatments which can improve the short-term and long-term out …
CONCLUSIONS AND RELEVANCE: This narrative review summarizes the causes of neonatal hypotonia and the benefits of prompt genetic diagnosis, i …
Wind and Solar Resource Droughts in California Highlight the Benefits of Long-Term Storage and Integration with the Western Interconnect.
Rinaldi KZ, Dowling JA, Ruggles TH, Caldeira K, Lewis NS. Rinaldi KZ, et al. Among authors: dowling ja. Environ Sci Technol. 2021 May 4;55(9):6214-6226. doi: 10.1021/acs.est.0c07848. Epub 2021 Apr 6. Environ Sci Technol. 2021. PMID: 33822592
Using a macro-scale electricity model, we evaluate the potential for both long-term storage and more geographically diverse generation resources to minimize system costs. ...
Using a macro-scale electricity model, we evaluate the potential for both long-term storage and more geographically diverse generatio …
Quality of Life and 1-Year Survival in Patients With Early Septic Shock: Long-Term Follow-Up of the Australasian Resuscitation in Sepsis Evaluation Trial.
Higgins AM, Peake SL, Bellomo R, Cooper DJ, Delaney A, Harris AH, Howe BD, Nichol AD, Webb SA, Williams PJ; Australasian Resuscitation in Sepsis Evaluation (ARISE) Investigators and the ANZICS Clinical Trials Group. Higgins AM, et al. Crit Care Med. 2019 Jun;47(6):765-773. doi: 10.1097/CCM.0000000000003762. Crit Care Med. 2019. PMID: 30985391 Clinical Trial.
OBJECTIVES: To examine long-term survival and quality of life of patients with early septic shock. ...INTERVENTIONS: Early goal-directed therapy versus usual care. MEASUREMENTS AND MAIN RESULTS: Long-term survival was measured up to 12 months postrandomization. Heal …
OBJECTIVES: To examine long-term survival and quality of life of patients with early septic shock. ...INTERVENTIONS: Early goal-direc …
34 results