Results 71 to 80 of about 32,840 (255)

Prenatal multidisciplinary counseling for fetal congenital anomalies: A narrative review

International Journal of Gynecology &Obstetrics, Volume 169, Issue 2, Page 498-510, May 2025.
Abstract Introduction Prenatal multidisciplinary counseling for fetuses with congenital anomalies involves a collaborative approach, integrating expertise from various medical fields. Aims and Approach This comprehensive strategy aims to provide expectant parents with accurate information about the diagnosis, potential outcomes, and available ...
Licia Lugli, Cecilia Rossi, Alberto Berardi, Marisa Pugliese, Pier Luca Ceccarelli, Filomena Giulia Sileo, Giuseppe Chiossi, Giannina Contu, Olga Calabrese, Antonio La Marca, Emma Bertucci   +10 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

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

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +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

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu   +5 more
wiley   +1 more source

Systematic Review on the Incidence of Bisphosphonate Related Osteonecrosis of the Jaw in Children Diagnosed with Osteogenesis Imperfecta

eJournal of Oral Maxillofacial Research, 2014
Objectives: To conduct a systematic review of epidemiological literature to determine the incidence of bisphosphonate related osteonecrosis of the jaw occurring either spontaneously or after dental surgery, in children and adolescents diagnosed with ...
Anusha Adeline Hennedige, Jap Jayasinghe, Janette Khajeh, Tatiana V. Macfarlane   +3 more
doaj   +1 more source

Promoting global clinical care and research for children with orthopaedic disabilities through motion analysis technology [PDF]

, 2018
Human motion analysis is a tool used to understand orthopaedic disabilities in children and to plan and monitor treatment strategies. It enables clinicians to quantitatively describe rehabilitative progress, plan surgeries, and conduct research.
Abiera, Joycie Eulah, Arroyo, Monica, Caicedo, Luis Fernando, Canseco, Karl, Constantino, Christopher, Garcia, Filipe Haces, Gomez, Jorge, Harris, Gerald F., Kurapati, Nikhil T., Lugo, Mariano Gonzalez, Miller, Terence, Rammer, Jacob R., Rodriguez, Wilfredo Agredo, Sumpaico, Carlo Emmanuel   +13 more
core   +1 more source

A novel workflow for multi‐modal imaging of musculoskeletal tissues

Journal of Anatomy, Volume 246, Issue 5, Page 724-731, May 2025.
Summary of the overall procedural workflow followed in this study, showing tissue processing stages, staining procedures and imaging modes. Abstract According to the World Health Organization (WHO) musculoskeletal conditions are a leading contributor to disability worldwide.
Anya König, Brenton L. Cavanagh, Isabel Amado, Amit Kalra, Bohnejie A. Ogon, Paige V. Hinton, Oran D. Kennedy   +6 more
wiley   +1 more source

New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

Педиатрическая фармакология, 2015
Osteogenesis imperfecta is characterized by increased congenital brittleness of bones with a broad spectrum of clinical manifestations — from perinatal/lethal form and severe bone deformities to the mildest forms.
G. T. Yakhyayeva, L. S. Namazova-Baranova, T. V. Margieva   +2 more
doaj   +1 more source