Results 71 to 80 of about 67,445 (255)

Effect of Anti‐TGF‐β Treatment in a Mouse Model of Severe Osteogenesis Imperfecta

Journal of Bone and Mineral Research, 2018
Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that is usually caused by mutations affecting collagen type I encoding genes. Recent studies in mouse models of recessive OI, Crtap‐/‐ mice, and dominant OI, +/G610C mice, found that ...
J. Tauer, Sami Abdullah, F. Rauch
semanticscholar   +1 more source

Prevalence, Characteristics, and Predictive Factors of Dentoalveolar and Spreading Odontogenic Infections in Children Treated Under General Anaesthesia

International Journal of Paediatric Dentistry, EarlyView.
ABSTRACT Background Children receiving dental treatment under general anesthesia (GA) often have odontogenic infections (OIs). Early detection and treatment of patients at risk of OIs can improve oral health and prevent early tooth extractions. Aim To investigate the prevalence, characteristics, and predictive factors of OIs in children receiving ...
Annmari Hyppänen, Fanny Mussalo, Johanna Snäll, Heikki Alapulli, Eija Salmela   +4 more
wiley   +1 more source

Osteogenesis imperfecta and pregnancy: a case report

Journal of Medical Case Reports, 2019
Background Osteogenesis imperfecta is a rare connective tissue disorder of varying phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is an increased risk to both the mother and fetus.
Felix Chamunyonga, Kudzaishe Lloyd Masendeke, Bismark Mateveke   +2 more
doaj   +1 more source

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Педиатрическая фармакология, 2019
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes.
Olga N. Ignatovich, Leyla S. Namazova-Baranova, Tea V. Margieva, Natalia V. Zhurkova, Kirill V. Savostyanov, Alexander V. Pushkov   +5 more
doaj   +1 more source

Dental management of a child with a rare bone disorder: a case report with a six-year follow up

RGO: Revista Gaúcha de Odontologia, 2020
Osteogenesis imperfecta is a rare genetic disorder involving abnormal type I collagen composition that compromises bone and collagen-rich tissues. Individuals with Osteogenesis imperfecta exhibit oral and systemic abnormalities, including dentinogenesis ...
Suélen Alves TEIXEIRA, Mariana Oliveira GUIMARÃES, Natália Mendes De Matos CARDOSO, Raiane Machado MAIA, Natália Cristina Ruy CARNEIRO, Ana Cristina BORGES-OLIVEIRA   +5 more
doaj   +1 more source

De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta

Molecular Genetics & Genomic Medicine, 2019
Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated.
L. Zhytnik, K. Maasalu, B. H. Duy, A. Pashenko, S. Khmyzov, E. Reimann, E. Prans, S. Kõks, A. Märtson   +8 more
semanticscholar   +1 more source

Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies

Orthopaedic Surgery, EarlyView.
This review explores the genetic underpinnings and treatment strategies for spinal deformities in children with osteogenesis imperfecta. Emphasis is placed on emerging molecular insights and modern surgical techniques that improve the management of severe scoliosis and enhance patient outcomes.
Vladislav Muldiiarov, Keely Buesing, Maegen J. Wallace   +2 more
wiley   +1 more source

Revisiting the Genetics of Hypophosphatasia

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
Overview of the genetic concepts in hypophosphatasia reviewed in this manuscript. ABSTRACT Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue‐nonspecific alkaline phosphatase (ALPL) gene.
Priya S. Kishnani, Catherine Rehder, Keiichi Ozono, Jordi Pérez‐López, Guillermo del Angel, William R. Mowrey, Meena Balasubramanian, Wolfgang Högler, Eric T. Rush   +8 more
wiley   +1 more source

SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements

Orphanet Journal of Rare Diseases
Background SATURN (Systematic Accumulation of Treatment practices and Utilisation, Real world evidence, and Natural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing,
L. Sangiorgi, M. Boarini, M. Mordenti, V. Wang, I. Westerheim, R. T. Skarberg, M. Cavaller-Bellaubi, James Clancy, R. Pinedo-Villanueva, E. J. V. Lente, M. Marchetti   +10 more
doaj   +1 more source

Play Together? Unveiling Facilitators and Barriers to Inclusive Outdoor Play for Dutch Children With and Without Disabilities: A Qualitative Study

Child: Care, Health and Development, Volume 51, Issue 6, November 2025.
ABSTRACT Background The ‘Right to Play’ is included in the United Nations Convention on the Rights of the Child. Outdoor play contributes to children's overall development, physical and mental health and quality of life. Unfortunately, children with disabilities often experience restrictions while playing outdoors. Understanding children's perspectives
R. Q. Beekhuizen, E. A. M. Bolster, J. W. Gorter, N. L. Henry, K. Visser, H. Wittink, E. M. W. Kotte, M. E. Sol, M. A. T. Bloemen   +8 more
wiley   +1 more source