Results 21 to 30 of about 13,604 (137)

Translational Research in Osteogenesis Imperfecta and Cell Therapy

Proceedings, 2021
On 6 and 7 of February 2019, Center for Stem cell Research (CSCR) and Pediatric orthopedic Unit at Christian Medical College (CMC), Vellore, conducted a meet on Translational Research in Osteogenesis Imperfecta and Cell Therapy.
Vrisha Madhuri, Sowmya Ramesh, Renita Raymond, Agnes Selina, Lakshmi Loganathan   +4 more
doaj   +1 more source

Pectus excavatum in osteogenesis imperfecta type I treated with Nuss procedure after pamidronate therapy

Journal of Pediatric Surgery Case Reports, 2021
Osteogenesis imperfecta is a genetic disorder caused by mutations in genes affecting type I collagen that is mostly found in bone, skin and tendons. In addition to bone fragility and increased risk of fractures, patients with osteogenesis imperfecta can ...
Nelimar Cruz Centeno, Victor N. Ortiz Justiniano   +1 more
doaj   +1 more source

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

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

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

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Different from bone: Tooth formation and enameloid mineralization are not affected by reduced dietary phosphorus intake

Developmental Dynamics, EarlyView.
Abstract Background Vertebrates rely on phosphorus intake for skeletal mineralization. In humans, hypomineralized teeth associated with rickets, hypophosphatemia, hypophosphatasia, or idiopathic molar‐incisor‐hypomineralization pose significant problems.
S. Cotti, A. Huysseune, I. A. K. Fiedler, B. Busse, C. Di Biagio, M. Rücklin, F. Marone, A. Forlino, P. E. Witten   +8 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

Severe skeletal fragility in SCN8A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized feature of the clinical spectrum associated with pathogenic SCN8A variants ...
Adélia Maria de Miranda Henriques‐Souza, Kette D. Valente   +1 more
wiley   +1 more source