Results 41 to 50 of about 13,604 (137)

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

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

Prenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults

BMC Public Health
Background The IMPACT Survey explored the humanistic, clinical, and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers, and wider society.
Taco van Welzenis, Ingunn Westerheim, Tracy Hart, Lena Lande Wekre, Oliver Semler, Frank Rauch, Laetitia Dewavrin, Ruby Dadzie, Samantha Prince, Cathleen Raggio   +9 more
doaj   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Project SATURN– a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies

Orphanet Journal of Rare Diseases
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effectiveness.
L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang, M. Mordenti   +6 more
doaj   +1 more source

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

Medication Related Osteonecrosis of the Jaw: Knowledge, Attitudes and Practice Patterns Among Australian Dental Practitioners

Australian Dental Journal, EarlyView.
ABSTRACT Background Medication related osteonecrosis of the jaw (MRONJ) is a debilitating condition associated with antiresorptive and antiangiogenic therapies. As the use of these medications continues to increase, dental practitioners play a critical role in prevention and management of at‐risk patients. This survey evaluated the awareness, knowledge
Ying Shi Chang, Christopher Friel, Gary Low, Albert Yaacoub, Stephen Clive Cox   +4 more
wiley   +1 more source

The association between collagenopathies and the risk of spontaneous preterm birth: A systematic review with selective meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This review quantifies the association between collagenopathies and spontaneous preterm birth, assessing their role in antenatal risk assessment. Marfan syndrome is significantly associated with an increased risk of spontaneous preterm birth (OR 2.71, 95% CI 2.23–3.30; p < 0.001; I2 = 41%) while evidence for Ehlers–Danlos syndrome is heterogeneous ...
Kensie Treacy, Brenda F. Narice, Denya Williams‐Goss, Dilly O. C. Anumba   +3 more
wiley   +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

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source