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Anestesia venosa total em paciente portador de Osteogênesis imperfecta: relato de caso Anestesia venosa total en paciente portador de Osteogénesis imperfecta: relato de caso Total intravenous anesthesia in Osteogenesis imperfecta patient: case report

Revista Brasileira de Anestesiologia, 2004
JUSTIFICATIVA E OBJETIVOS: A Osteogênesis Imperfecta é uma doença genética rara do tecido conjuntivo, com prevalência de 1/10000, que primariamente envolve a ossificação endocondral, resultando em ossos frágeis, múltiplas fraturas e deformidades ...
José Francisco Nunes Pereira das Neves, Roberto Silva Sant'Anna, João Rosa de Almeida, Rodrigo Machado Saldanha, Marcos Gonçalves Magalhães   +4 more
doaj   +1 more source

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries

Orphanet Journal of Rare Diseases
Introduction Osteogenesis imperfecta (OI) is a heritable skeletal disorder and comprises various subtypes that differ in clinical presentation, with Type I considered the least severe and Types III/IV the most severe forms.
Ingunn Westerheim, Valerie Cormier-Daire, Scott Gilbert, Sean O’Malley, Richard Keen   +4 more
doaj   +1 more source

Assessing Access to Orthopaedic Care for Patients With Osteogenesis Imperfecta

Graduate Medical Education Research Journal
Background: Osteogenesis Imperfecta (OI) is a rare disorder caused by variations in collagen. Clinical manifestations include multiple fractures, short stature, scoliosis, blue sclera, hearing loss, and opalescent teeth.
Annemarie K. Leonard, Kara Ayers, Lauren Faokunla, Kaeli Samson, Erika Carter, Tracy Hart, Maegen Wallace   +6 more
doaj   +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

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

Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

Human Genome Variation
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may progress to hydrocephalus; however, treatment strategies for this complication remain unclear.
Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue   +8 more
doaj   +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

Phase angle and World Health Organization criteria for the assessment of nutritional status in children with osteogenesis imperfecta

Revista Paulista de Pediatria
Objective: To compare the phase angle of patients with osteogenesis imperfecta treated at a tertiary university hospital with patients in a control group of healthy children, and to assess the nutritional status of these patients through the body mass ...
Vicky Nogueira Pileggi, Antonio Rodolpho Hakime Scalize, José Simon Camelo Junior   +2 more
doaj   +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