This paper deals with three cases of osteogenesis imperfecta and pregnancy. The significance of this disease with regard to genetic advice, pregnancy and delivery is discussed considering the classification of Sillence.
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The parental care-seeking behavior of children with osteogenesis imperfecta based on the Anderson's model: a qualitative study.
BMC Nurs
January 2025
Department of Orthopedic, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Objective: This study aims to analyze the medical-seeking behavior of Osteogenesis Imperfecta(OI) children in Southwest China, summarize and analyze the issues in their medical process, and propose corresponding improvement strategies.
Methods: A phenomenological study involving semi-structured interviews with 20 OI caregivers at a tertiary centre for children from March to August 2021 was analyzed thematically, following Anderson's model.
Results: We identified eight themes in the data: 1)Regional disparities of OI management, 2)Big economic burden, 3)High-risk population, 4)Lack of health education, 5)Multiple treatments,6)Strict treatment indications,7)Disappointing therapeutic outcomes,8)Effective or ineffective treatment results.
Mastication and electrical activation in the masseter and anterior temporalis muscles of children and adolescents with osteogenesis imperfecta.
Codas
January 2025
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre - HCPA - Porto Alegre (RS), Brasil.
Purpose: to characterize mastication and electrical activation of the masseter and anterior temporalis muscles in children and adolescents with osteogenesis imperfecta (OI), and relate results to guided occlusion and occlusal interference.
Methods: This observational, analytical cross-sectional study included 22 subjects divided into mild OI (MOI) (type 1) (n=15) and moderate-to-severe OI (MSOI) (types 3, 4, and 5) (n=7) groups. The Orofacial Myofunctional Evaluation with Scores (OMES) form was used to evaluate the clinical aspects of mastication.
On mobility and gait in scoliosis patients: a comparison of conventional and 3D-printed braces during an instrumented timed-up and go test.
BMC Musculoskelet Disord
January 2025
Scientific Institute, I.R.C.C.S. "E.Medea", Bosisio Parini, Italy.
Objective: Spinal orthoses are the most viable conservative treatment for scoliosis, and additive manufacturing techniques have shown huge perspective in producing patient-specific braces, reducing material waste, and production times. This pilot study aimed at determining whether 3D-printed braces could induce advantages or disadvantages compared to conventional braces in terms of mobility and gait, and at quantitatively evaluating the effects of braces on mobility and gait.
Methods: Ten participants were included in the study, eight with adolescent idiopathic scoliosis and two with osteogenesis imperfecta.
Non-invasive quantification of bone (re) modeling dynamics in adults with osteogenesis imperfecta treated with Setrusumab using timelapse HR-pQCT.
J Bone Miner Res
January 2025
Research Centre, Shriners Hospital for Children-Canada, Montreal, Canada.
Timelapse imaging using high-resolution peripheral quantitative computed tomography (HR-pQCT) has emerged as a noninvasive method to quantify bone (re)modelling. However, there is no consensus on how to perform the procedure. As part of the ASTEROID phase-2b multicenter trial, we used 29 same-day repeated scans from adults with osteogenesis imperfecta (OI) to identify a method that minimized measurement error.
View Article and Find Full Text PDFLack of TRIC-B dysregulates cytoskeleton assembly, trapping β-catenin at osteoblast adhesion sites.
FEBS J
January 2025
Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Italy.
The trimeric intracellular cation channel B (TRIC-B), encoded by TMEM38B, is a potassium (K) channel present in the endoplasmic reticulum membrane, where it counterbalances calcium (Ca) exit. Lack of TRIC-B activity causes a recessive form of the skeletal disease osteogenesis imperfecta (OI), namely OI type XIV, characterized by impaired intracellular Ca flux and defects in osteoblast (OB) differentiation and activity. Taking advantage of the OB-specific Tmem38b knockout mouse (Runx2Cre;Tmem38b; cKO), we investigated how the ion imbalance affects the osteogenetic process.
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