A5084997960- Connective tissue disorders research
- Bone fractures and treatments
- Medical and Biological Sciences
- Bone and Dental Protein Studies
- Hip disorders and treatments
- Aortic Disease and Treatment Approaches
- Bone health and treatments
- Adolescent and Pediatric Healthcare
- Cardiovascular and Diving-Related Complications
- Hip and Femur Fractures
- Child and Adolescent Health
- Delphi Technique in Research
- Neurogenetic and Muscular Disorders Research
- Dermatological and Skeletal Disorders
- Congenital Heart Disease Studies
- Viral Infections and Immunology Research
- Cardiovascular Issues in Pregnancy
- Immunodeficiency and Autoimmune Disorders
- Occupational Therapy Practice and Research
- Congenital Diaphragmatic Hernia Studies
- RNA Interference and Gene Delivery
- Nursing Roles and Practices
- Scoliosis diagnosis and treatment
- Health and Medical Studies
- Childhood Cancer Survivors' Quality of Life
Sunnaas sykehus
2006-2025
Oslo University Hospital
2017-2024
Thomas Jefferson University
2011
University of Oslo
2009-2011
Abstract Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder primarily characterised by skeletal deformity and fragility, an array of secondary features. The purpose this review was to capture quantify the published evidence relating specifically clinical, humanistic, economic impact OI on individuals, their families, wider society. Methods A systematic scoping 11 databases (MEDLINE, MEDLINE in-progress, EMBASE, CENTRAL, PsycINFO, NHS EED, CEA Registry,...
Abstract Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with variety of symptoms, that affect individuals’ quality life (QoL) and can be increased healthcare resource use. While some aspects OI are well studied, others remain poorly understood. Therefore, the IMPACT survey aimed to elucidate humanistic, clinical economic burden on individuals OI, their families, caregivers wider society. Methods We developed an international mixed methods...
Still little is known about the manifestations of osteogenesis imperfecta (OI) in adults. We therefore initiated this study bone mass, turnover and prevalence fractures a large cohort adult patients. found surprising low (10%) osteoporosis. These patients, however, expressed most severe disease.To characterize mineral density, turnover, calcium metabolism adults with imperfecta.One hundred fifty-four patients OI participated 90 (age range 25-83) provided dual X-ray absorptiometry (DXA)...
This paper describes oral findings in an adult population with osteogenesis imperfecta (OI) Norway (n=94). All participants underwent a structured interview and examination. Panoramic radiographs were analyzed. The compared data from other Nordic epidemiological studies. Seventeen individuals (19%) had clinical signs of dentinogenesis (DI). Persons OI twice as many missing teeth the general population, number endodontically treated was higher than population. persons study acceptable state...
There are no larger studies of adults with osteogenesis imperfecta (OI), focusing on the impact spinal cord deformities lung function assessment.To assess prevalence and severity in an adult population OI to explore whether compromise correlated spine.Ninety-two had radiographs spine, 75 underwent spirometry. Deformities were assessed radiographically using a semi-quantitative (SQ) approach grading each vertebra from mild severe (0-3 SQ grades). The deformity index (SDI) was calculated by...
Abstract Background Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows wide variation. Therefore, care for patients with requires an interdisciplinary approach. effectiveness particular interventions and treatment protocols teams not clear due to non-standardized variation patient outcomes thus making the comparison outcome measures available in literature difficult. It only by agreeing on common, standard set...
There is no universally accepted definition for rare diseases: in Europe a disease considered to be when affecting fewer than 1 2000 people. European Reference Networks (ERNs) have been the concrete response address unmet needs of patients and many pan-European issues field, reducing inequities, significantly increasing accessibility high-quality healthcare across Europe. ERNs are virtual networks, involving centres patient representatives with general scope facilitate discussion on complex...
Abstract Transition care (TC) is crucial for young persons with rare bone and mineral conditions (RBMCs) as they move from pediatric to adult healthcare. Effective TC prevents disruptions supports medical psychosocial needs. However, gaps in communication, a shortage of RBMC specialists, challenges navigating healthcare necessitate standardized care. This study aimed develop consensus-based recommendations RBMCs, focusing on best practices seamless transition patient empowerment. A two-round...
Purposes. To describe demographical variables, and to study functional ability perform activities of daily life in adults with osteogenesis imperfecta (OI).Methods. Population-based study. Ninety-seven patients aged 25 years older, 41 men 56 women, were included. For the comparison was made a matched control-group (475 persons) from Norwegian general population. Structured interviews concerning social conditions, employment educational issues clinical examination performed. The Sunnaas...
Abstract Background The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers wider society. Research methodology, demographics initial insights from have been previously reported. cost illness (healthcare resource use, productivity loss, out-of-pocket spending) drivers impact OI are reported here. Methods was an international mixed-methods online in eight languages (fielded...
Background: Amyoplasia, the most common form of arthrogryposis is characterized by typical deformities joints and replacement skeletal muscles fibrous tissue fat. There sparse literature on adaptation to adult life with amyoplasia.Purpose: To describe physical function activity strategies in adults amyoplasia, as this knowledge important for relevant function-enhancing measures.Materials methods: Twenty-two (20–91 years) amyoplasia participated. Demographic factors clinical history were...
Abstract Background/Aims The IMPACT survey explored self-reported experiences of the clinical, humanistic, and economic impact osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, fragility variable secondary features. Here we present findings on OI-related signs, symptoms events their adults OI both globally in United Kingdom (UK). Methods Together Osteogenesis Imperfecta Federation Europe Foundation (USA) developed an international eight...
Pain is a challenge in persons with OI and causes much concern the Osteogenesis Imperfecta (OI) population. We aim to evaluate usability of Nordic Musculoskeletal Questionnaire (NMQ) identify painful sites adults describe occurrence musculoskeletal (MSK) pain its impact on their work daily activities. This cross-sectional pilot study uses OI-NMQ MSK prevalence nine separate anatomical regions (neck, upper back, lower shoulder, elbow, hand/wrist, hip, knee, ankle/foot) regular activities OI....
Introduction: The IMPACT Survey explored self-reported experiences of the clinical, humanistic, and economic impact osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, increased fragility variable secondary features. Here we present findings on perceptions concerns healthcare among adults OI caregivers (CG) individuals in Germany.
<title>Abstract</title> <bold>Background:</bold> The IMPACT Survey explored the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers wider society. Two previous publications report research methodology, initial insights survey, cost illness OI. Here we present data impact OI quality life (QoL) adults explore potential drivers this impact. <bold>Methods: </bold>The was an international mixed methods online survey in eight...
Abstract Background The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, wider society. Two previous publications report research methodology, initial insights survey, cost illness OI. Here, we present data impact OI quality life (QoL) adults explore potential drivers this impact. Methods was an international mixed methods online survey in eight languages (fielded July–September 2021),...