Results 11 to 20 of about 27,998 (224)

Osteogenesis imperfecta [PDF]

The Lancet, 2016
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years ...
FORLINO, ANTONELLA, Marini, Joan C.
openaire   +5 more sources

OMICS Profiling Identifies Signatures of Senescence in Osteogenesis Imperfecta Osteoblasts Counteracted by 4-PBA. [PDF]

J Cell Mol Med
ABSTRACT Mutations in collagen I are the most common cause of osteogenesis imperfecta (OI), leading to delayed protein folding and structurally abnormal molecules. While some aberrant collagen is secreted into the extracellular matrix (ECM), impairing bone quality, a significant fraction is retained intracellularly, disrupting osteoblast homeostasis. 4‐
Besio R, Maffioli E, Palladino E, Sala A, Garibaldi N, Izzi V, Forlino A, Tedeschi G.   +7 more
europepmc   +2 more sources

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams

Acta Orthopaedica, 2021
Background and purpose — Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient’s viewpoint and better comparability of outcomes.
Ralph J Sakkers, Kathleen Montpetit, Argerie Tsimicalis, Thomas Wirth, Marjolein Verhoef, Reginald Hamdy, Jean A Ouellet, Rene M Castelein, Chantal Damas, Guus J Janus, Wouter H Nijhuis, Leonardo Panzeri, Simona Paveri, Dagmar Mekking, Kelly Thorstad, Richard W Kruse   +15 more
doaj   +1 more source

Evaluation of Vibration Analysis to Assess Bone Mineral Density in Children [PDF]

, 2020
The effectiveness of vibration analysis to assess bone mineral density (BMD) in children with suspected reduction in bone density was studied. A system was designed that measured the ulna's vibration responses in vivo.
Bishop, Nicolas J, Burke, Derek, Offiah, Hjar, Razaghi, Hajar, Saatchi, Reza   +4 more
core   +2 more sources

Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: outcomes and pitfalls in relation to bone mineral density [PDF]

, 2017
The purpose of this study is to compare the results of 2 techniques, tension band wiring (TBW) and fixation with screws, in olecranon fractures in children affected with osteogenesis imperfecta (OI) type I.
D'Eufemia, Patrizia, De Cristo, Claudia, Graci, Jole, Martini, Lorena, Persiani, Pietro, Ranaldi, Filippo M., Villani, Ciro, Zambrano, Anna   +7 more
core   +1 more source

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report [PDF]

Clin Case Rep
ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Parviz S, Hooshyar D.
europepmc   +2 more sources

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. [PDF]

, 2019
PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked ...
A Lund, A Markmann, AD Letocha, AK Anissipour, Allison Tam, B Sykes, BJ Belt-Niedbala, Brendan Lee, BU Nwosu, C Land, D Gatti, David Cuthbertson, DO Sillence, DR Keene, EL Germain-Lee, ER Barros, F Rauch, F Rauch, FH Glorieux, Francis H. Glorieux, Frank Rauch, I Grafe, Jay R. Shapiro, JC Marini, JC Marini, JD Hald, Jeff Krischer, JM Tanner, K Graff, L Zeitlin, LA Dimeglio, Mahim Jain, Mary Mullins, Melanie Pepin, MG Seikaly, Michael B. Bober, Michaela Durigova, MS Aglan, N Bishop, N Bishop, Peter A. Smith, Peter H. Byers, R Sakkers, RH Engelbert, RH Engelbert, RM Patel, Robert D. Steiner, RT Hamza, S Bellur, Sandesh C. S. Nagamani, Sunil Bellur, T Palomo, T Yang, Tracy Hart, U Vetter, V. Reid Sutton, Y Takeuchi   +56 more
core   +2 more sources

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

6'-Methoxy Raloxifene-analog enhances mouse bone properties with reduced estrogen receptor binding [PDF]

, 2020
Raloxifene (RAL) is an FDA-approved drug used to treat osteoporosis in postmenopausal women. RAL suppresses bone loss primarily through its role as a selective estrogen receptor modulator (SERM).
Allen, Matthew R., Berman, Alycia G., Brown, Alexa P., Deosthale, Padmini, Plotkin, Lilian I., Powell, Katherine M., Pulliam, Alexis N., Skaggs, Cayla G., Wallace, Joseph M., Williams, David R.   +9 more
core   +1 more source

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Bone Reports, 2018
An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for adults with OI.
Luuk J.J. Scheres, Fleur S. van Dijk, Arjan J. Harsevoort, Atty T.H. van Dijk, Anne Marieke Dommisse, Guus J.M. Janus, Anton A.M. Franken   +6 more
doaj   +1 more source