0000000000426476

AUTHOR

Jacob Sosna

showing 4 related works from this author

International Society for Therapeutic Ultrasound Conference 2016

2017

Meeting AbstractsJournal of Therapeutic Ultrasound
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An International Survey of Quality and Safety Programs in Radiology

2021

Purpose: The aim of this study was to determine the status of radiology quality improvement programs in a variety of selected nations worldwide. Methods: A survey was developed by select members of the International Economics Committee of the American College of Radiology on quality programs and was distributed to committee members. Members responded on behalf of their country. The 51-question survey asked about 12 different quality initiatives which were grouped into 4 themes: departments, users, equipment, and outcomes. Respondents reported whether a designated type of quality initiative was used in their country and answered subsequent questions further characterizing it. Results: The re…

safetymedicine.medical_specialtyCanadaQuality managementAsiaInternationalitymedia_common.quotation_subjectquality improvementinternational surveymedicineHumansRadiology Nuclear Medicine and imagingQuality (business)value-addedSocieties Medicalmedia_commonQuality of Health Carebusiness.industryInternational surveyAustraliaGeneral MedicineglobalUnited StatesVariety (cybernetics)Europepeer-reviewHealth Care SurveysRadiologybusinessRadiologyProgram Evaluation
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Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

2013

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor death, which results in visual failure. Here, we used a combination of homozygosity mapping and exome sequencing to identify mutations in ARL2BP, which encodes an effector protein of the small GTPases ARL2 and ARL3, as causative for autosomal-recessive RP (RP66). In a family affected by RP and situs inversus, a homozygous, splice-acceptor mutation, c.101−1G>C, which alters pre-mRNA splicing of ARLBP2 in blood RNA, was identified. In another family, a homozygous c.134T>G (p.Met45Arg) mutation was identified. In the mouse retina, ARL2BP localized to the basal body and cilium-associated…

AdultMaleRetinal degenerationCentrioleMolecular Sequence DataGenes RecessiveBiologymedicine.disease_causeMice03 medical and health sciences0302 clinical medicineBardet–Biedl syndromeGTP-Binding ProteinsReportRetinitis pigmentosaGeneticsmedicineAnimalsHumansBasal bodyGenetics(clinical)Photoreceptor CellsGenetics (clinical)030304 developmental biologyPrimary ciliary dyskinesiaGenetics0303 health sciencesMutationBase SequenceADP-Ribosylation FactorsCiliumHomozygoteMembrane Transport ProteinsEpithelial Cellsmedicine.diseasePedigreeCell biologyMutationFemalesense organsCarrier ProteinsRetinitis Pigmentosa030217 neurology & neurosurgeryProtein BindingTranscription FactorsThe American Journal of Human Genetics
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Supplemental_material - An International Survey of Quality and Safety Programs in Radiology

2020

Supplemental_material for An International Survey of Quality and Safety Programs in Radiology by Jeremy Dick, Kathryn E. Darras, Frank J. Lexa, Erika Denton, Shigeru Ehara, Howard Galloway, Bhavin Jankharia, Pam Kassing, Kanako Kunishima Kumamaru, Peter Mildenberger, Sergey Morozov, Nadya Pyatigorskaya, Bin Song, Jacob Sosna, Marcus van Buchem and Bruce B. Forster in Canadian Association of Radiologists Journal

110320 Radiology and Organ ImagingFOS: Clinical medicine
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