Results 41 to 50 of about 35,518 (257)

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

Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis

Radiology Case Reports, 2020
Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and ...
Jane L. Ferguson, MBBS, BSc, MRCP, FRCR, Susan R.J. Burrows, MBBS, FRCR   +1 more
doaj   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +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

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

BMC Medical Genetics, 2011
Background Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital ...
Steinlein Ortrud K, Aichinger Eric, Trucks Holger, Sander Thomas   +3 more
doaj   +1 more source

Malleostapedotomy in Patients With Stapes Fixation: A Systematic Review

The Laryngoscope, EarlyView.
This systematic review analyses the current evidence on malleostapedotomy as a primary or revision procedure in patients with stapes fixation. Twenty‐five studies comprising 632 operated ears were included. Malleostapedotomy proved to be a safe and effective alternative to incus‐anchoring stapedoplasty, with favorable hearing outcomes and a low ...
Matteo Alicandri‐Ciufelli, Edoardo D'Alessandro, Daniela Lucidi, Riccardo Nocini, Hui Davide Qiu   +4 more
wiley   +1 more source

A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients [PDF]

, 2015
Osteogenesis imperfecta (OI) is a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. Their typical oral and craneofacial characteristics (Dentinogenesis imperfecta type I and class III malocclusion),
de Nova García, Joaquín, Feijóo, Gonzalo, Garcilazo, Mario, Gutiérrez Díez, María Pilar, Mourelle Martínez, Mª Rosa, Ortega Aranegui, Ricardo, Ríos Rodenas, Mercedes   +6 more
core   +2 more sources

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Orphanet Journal of Rare Diseases
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch   +9 more
doaj   +1 more source

CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA

Педиатрическая фармакология, 2015
Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures.
G. T. Yakhyayeva, T. V. Margieva, L. S. Namazova-Baranova, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, K. V. Zherdev, N. D. Vashakmadze, A. K. Gevorkyan   +8 more
doaj   +1 more source

Human Cyclophilins—An Emerging Class of Drug Targets

Medicinal Research Reviews, EarlyView.
ABSTRACT Cyclophilins are a family of enzymes with peptidyl‐prolyl isomerase activity found in all cells of all organisms. To date, 17 cyclophilin isoforms have been identified in the human body, participating in diverse biological processes. Consequently, cyclophilins have emerged as promising targets for drug development to address a wide array of ...
Katarina Jurkova, Hana Navratilova, Kamil Musilek, Ondrej Benek   +3 more
wiley   +1 more source