Results 21 to 30 of about 17,499 (218)

The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis

BMC Musculoskeletal Disorders, 2022
Background Osteogenesis Imperfecta affects approximately 1 in every 10,000 people. Musculoskeletal disorders and pain are common in adults with Osteogenesis Imperfecta, but specific knowledge of the problems people have is lacking.
Sophie Barlow, Lucy Dove, Anju Jaggi, Richard Keen, Judith Bubbear   +4 more
doaj   +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

Infraclavicular block and anesthesia management in two cases with Osteogenesis Imperfecta

Van Tıp Dergisi, 2017
Osteogenesis imperfecta, is a rare autosomal hereditary connective tissue disease. In these cases, extremely fragile bones, other organ and body system disorders are prominent.
Cahide Kahraman, Abdullah Kahraman
doaj   +1 more source

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta

Orphanet Journal of Rare Diseases
Background Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported.
Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus, Anton Franken   +5 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Advanced Molecular Imaging Probes for Skeletal Diseases: Current Progress and Future Perspectives

iRADIOLOGY, EarlyView.
This review summarizes the potential molecular imaging techniques and probes for common orthopedic diseases, such as trauma, infection, metabolism, tumor, joint, spine and other fields, aiming to provide a basis for the development of a new generation of molecular imaging probes.
Shuo Guo, Yuling Cui, Zhiye Fan, Chenxin Jiang, Bowen Fu, Guangbin Cui, Yanli He   +6 more
wiley   +1 more source

Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases

Orphanet Journal of Rare Diseases
Adults with childhood-onset rare disease face many challenges when transitioning from pediatric services to adult care. While they often received specialized pediatric care, the adult healthcare system provides few resources for those whose rare disease ...
Laura L. Tosi, Tracy S. Hart, Gabriela Beug, Erika Carter, Eleanor M. Perfetto   +4 more
doaj   +1 more source

Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review

Journal of International Medical Research, 2022
The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients.
Pavel Sponer, Martin Korbel, Tomas Kucera   +2 more
doaj   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta

Orphanet Journal of Rare Diseases, 2018
On the occasion of the 13th International Conference on Osteogenesis imperfecta in August 2017 an expert panel was convened to develop an international consensus paper regarding physical rehabilitation in children and adolescents with Osteogenesis ...
Brigitte Mueller, Raoul Engelbert, Frances Baratta-Ziska, Bart Bartels, Nicole Blanc, Evelise Brizola, Paolo Fraschini, Claire Hill, Caroline Marr, Lisa Mills, Kathleen Montpetit, Verity Pacey, Miguel Rodriguez Molina, Marleen Schuuring, Chantal Verhille, Olga de Vries, Eric Hiu Kwong Yeung, Oliver Semler   +17 more
doaj   +1 more source