PCR32 Self-Reported Prevalence and Impact of Clinical Signs, Symptoms, and Events in Adults With Osteogenesis Imperfecta (OI)

Autor: Bober, MB, Wekre, LL, Raggio, C, Semler, O, Westerheim, I, Hart, T, van Welzenis, T, Rapoport, M, Leiras, C, Rauch, F

Publikováno v: In Value in Health December 2022 25(12) Supplement:S396-S396

A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta.

Autor: Wekre LL, Frøslie KF, Haugen L, Falch JA

Publikováno v: Disability & Rehabilitation; Apr2010, Vol. 32 Issue 7, p579-587, 9p

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

Autor: Celli L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Garrelfs MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Endocrinology, Amsterdam UMC, University of Amsterdam and Vrije Universiteit, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Sakkers RJB; Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands., Elting MW; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands., Celli M; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Bökenkamp A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam, The Netherlands., Smits C; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam Public Health Research Institute, Amsterdam UMC, Amsterdam, The Netherlands., Goderie T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Otolaryngology-Head and Neck Surgery, Section Ear and Hearing, Amsterdam UMC, Amsterdam, The Netherlands., Smit JM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Plastic, Reconstructive- and Hand Surgery, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Amsterdam Bone Centre, Amsterdam, The Netherlands., Schwarte LA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands., Schober PR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands., Lubbers WD; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Anesthesiology, Amsterdam UMC, Amsterdam, The Netherlands., Visser MC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurology, Amsterdam University Medical Centre, Location AMC, Amsterdam, The Netherlands., Kievit AJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands., van Royen BJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Orthopedic Surgery and Sports Medicine, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands., Gilijamse M; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Schreuder WH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Rustemeyer T; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Dermato-Allergology and Occupational Dermatology, Amsterdam UMC, Amsterdam, The Netherlands., Pramana A; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Center for Special Care in Dentistry, Department of Maxillofacial Prosthodontics, Stichting Bijzondere Tandheelkunde, Amsterdam, The Netherlands., Hendrickx JJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Otolaryngolgy/Head and Neck Surgery, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands., Dahele MR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiation Oncology, Amsterdam UMC, Location VUMC, Amsterdam, The Netherlands., Saeed P; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Orbital center, Department of ophthalmology, Amsterdam UMC, Amsterdam, The Netherlands., Moll AC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands., Curro-Tafili KR; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands., Ghyczy EAE; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands., Dickhoff C; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiothoracic Surgery, Amsterdam UMC Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., de Leeuw RA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Obstetrics and Gynecology, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands., Bonjer JH; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Nieuwenhuijzen JA; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Urology, Amsterdam UMC Location VUMC, Amsterdam, The Netherlands., Konings TC; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Cardiology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, Netherlands., Engelsman AF; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Surgery, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Eeckhout AM; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Psychiatry, Amsterdam UMC, Amsterdam, The Netherlands., van den Aardweg JG; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Respiratory Medicine, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands., Thoral PJ; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Intensive Care Medicine, Center for Critical Care Computational Intelligence, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Noske DP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Neurosurgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Dubois L; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Oral and Maxillofacial Surgery, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Teunissen BP; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Radiology and Nuclear Medicine, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands., Semler O; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Oslo, Norway., Maasalu K; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia., Märtson A; Department of Orthopaedics, University of Tartu, Tartu, Estonia.; Clinic of Orthopaedics, Tartu University Hospital, Tartu, Estonia., Sangiorgi L; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy., Versacci P; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Riminucci M; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Grammatico P; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Zambrano A; Rare Bone Diseases Center, AOU Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.; Department of Materna Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy., Martini L; Department of Orthopaedic and Traumatology, 'Sapienza' University of Rome, Rome, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Botman E; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands., Westerheim I; Osteogenesis Imperfecta Federation Europe (OIFE), Heffen, Belgium., Zhytnik L; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Department of Orthopaedics, University of Tartu, Tartu, Estonia., Micha D; Department of Human Genetics, Amsterdam UMC Location VUmc, Amsterdam, The Netherlands.; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands., Eekhoff EMW; Rare Bone Disease Center Amsterdam, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Department of Endocrinology and Metabolism, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Bone Centre, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.; Amsterdam Movement Sciences Research Institute, Amsterdam, The Netherlands. emw.eekhoff@amsterdamumc.nl.

Publikováno v: Calcified tissue international [Calcif Tissue Int] 2024 Dec; Vol. 115 (6), pp. 960-975. Date of Electronic Publication: 2024 Nov 13.

The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.

Autor: van Welzenis T; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Westerheim I; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Hart T; Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway., Semler O; Faculty of Medicine and University Hospital Cologne, Department of Pediatrics, University of Cologne, Cologne, Germany., Rauch F; McGill University, Montreal, Canada., Dewavrin L; Wickenstones Ltd, Oxford, Oxfordshire, UK. laetitia@wickenstones.com., Dadzie R; Wickenstones Ltd, Oxford, Oxfordshire, UK., Prince S; Wickenstones Ltd, Oxford, Oxfordshire, UK., Raggio C; Hospital for Special Surgery, New York, USA.

Publikováno v: BMC public health [BMC Public Health] 2024 Nov 28; Vol. 24 (1), pp. 3318. Date of Electronic Publication: 2024 Nov 28.

The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.

Autor: Hart T; Osteogenesis Imperfecta Foundation, Gaithersburg, MD, USA., Westerheim I; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., van Welzenis T; Osteogenesis Imperfecta Federation Europe, Heffen, Belgium., Semler O; Faculty of Medicine and University Hospital Cologne, Department of Paediatrics, University of Cologne, Cologne, Germany., Raggio C; Hospital for Special Surgery, New York, USA., Rauch F; McGill University, Montreal, Canada., Dadzie R; Wickenstones Ltd, Abingdon, Oxfordshire, UK. ruby@wickenstones.com., Prince S; Wickenstones Ltd, Abingdon, Oxfordshire, UK., Wekre LL; TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jun 03; Vol. 19 (1), pp. 222. Date of Electronic Publication: 2024 Jun 03.