Results 61 to 70 of about 27,998 (224)

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

BMC Public Health
Background The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society.
Taco van Welzenis, Ingunn Westerheim, Tracy Hart, Lena Lande Wekre, Oliver Semler, Frank Rauch, Laetitia Dewavrin, Ruby Dadzie, Samantha Prince, Cathleen Raggio   +9 more
doaj   +1 more source

Serum creatine kinase isoenzymes in children with osteogenesis imperfecta [PDF]

, 2017
This study evaluates serum creatine kinase isoenzyme activity in children with osteogenesis imperfecta to determine its usefulness as a biochemical marker during treatment with bisphosphonate.
Celli, L, Celli, M., D'Eufemia, Patrizia, Finocchiaro, R, Finocchiaro, S, Lodato, V, Persiani, Pietro, Turchetti, A, Zambrano, A   +8 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

Orphanet Journal of Rare Diseases
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness.
L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang, M. Mordenti   +6 more
doaj   +1 more source

Anestesia venosa total em paciente portador de Osteogênesis imperfecta: relato de caso Anestesia venosa total en paciente portador de Osteogénesis imperfecta: relato de caso Total intravenous anesthesia in Osteogenesis imperfecta patient: case report

Revista Brasileira de Anestesiologia, 2004
JUSTIFICATIVA E OBJETIVOS: A Osteogênesis Imperfecta é uma doença genética rara do tecido conjuntivo, com prevalência de 1/10000, que primariamente envolve a ossificação endocondral, resultando em ossos frágeis, múltiplas fraturas e deformidades ...
José Francisco Nunes Pereira das Neves, Roberto Silva Sant'Anna, João Rosa de Almeida, Rodrigo Machado Saldanha, Marcos Gonçalves Magalhães   +4 more
doaj   +1 more source

Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta [PDF]

, 2017
To investigate if an association between spondylolisthesis and L5 fracture occurs in patients affected by Osteogenesis Imperfecta (O.I.). Methods Anteroposterior and lateral radiograms were performed on the sample (38 O.I.
Celli M, de Cristo C, Graci j, Noia G, Persiani P, Villani C   +5 more
core   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 777-789, April 2026.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

Orphanet Journal of Rare Diseases
Introduction Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms.
Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen   +4 more
doaj   +1 more source

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach [PDF]

, 2017
Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable.
Bishop, N., Marr, C., Seasman, A.
core   +1 more source