Results 51 to 60 of about 67,445 (255)

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

European Journal of Human Genetics, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
M. Maioli, M. Gnoli, M. Boarini, M. Tremosini, A. Zambrano, E. Pedrini, Marina Mordenti, S. Corsini, P. D'eufemia, P. Versacci, M. Celli, L. Sangiorgi   +11 more
semanticscholar   +1 more source

FIGO good practice recommendations: Assisted vaginal birth and the second stage of labor

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Cesarean birth (CB) rates are increasing globally, with a current prevalence of 21.1% and a projected prevalence of 28.5% by 2030. Conversely, assisted vaginal birth (AVB) rates are declining, with reported rates of less than 10% in low‐ and middle‐income countries (LMICs) and 10%–15% in high‐income countries (HICs). In some African countries,
Akaninyene E. Ubom, Eytan R. Barnea, Nicoletta DiSimone, Martin Mueller, Jolly Beyeza‐Kashesya, Ines Nunes, Albaro J. Nieto‐Calvache, Elif G. Topcu, Zechariah J. Malel, Bo Jacobsson, Alison Wright, the FIGO Childbirth and Postpartum Hemorrhage Committee   +11 more
wiley   +1 more source

Advances in Molecularly Imprinted Polymers for Bone Biomarker Detection and Therapeutic Applications

ChemistryOpen, EarlyView.
This review highlights the emerging applications of molecularly imprinted polymers (MIPs) in bone regeneration and diagnosis. MIPs facilitate osteogenic treatments by guiding stem cell differentiation and delivering bioactive molecules and enable precise detection of bone turnover biomarkers via MIP‐based sensors, offering promising strategies for next‐
Ren Yang, Xiaohan Ma, Mingcheng Xuan, Yingqi Ma, Jiexian Ding, David Y. S. Chau, Jonathan C. Knowles, Feng Peng, Alessandro Poma   +8 more
wiley   +1 more source

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

Orphanet Journal of Rare Diseases
Background The IMPACT survey aimed to elucidate the humanistic, clinical and economic burden of osteogenesis imperfecta (OI) on individuals with OI, their families, caregivers and wider society.
Tracy Hart, Ingunn Westerheim, Taco van Welzenis, Oliver Semler, Cathleen Raggio, Frank Rauch, Ruby Dadzie, Samantha Prince, Lena Lande Wekre   +8 more
doaj   +1 more source

Current concepts in osteogenesis imperfecta: bone structure, biomechanics and medical management

Journal of Children's Orthopaedics, 2019
The majority of patients with osteogenesis imperfecta (OI) have mutations in the COL1A1 or COL1A2 gene, which has consequences for the composition of the bone matrix and bone architecture.
W. Nijhuis, D. Eastwood, J. Allgrove, I. Hvid, H. Weinans, R. Bank, R. Sakkers   +6 more
semanticscholar   +1 more source

Maternal Mosaicism Challenges in Non‐Invasive Prenatal Diagnosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To report the incidental detection of maternal somatic mosaicism during the development of exclusion‐based non‐invasive prenatal diagnosis for monogenic disorders (NIPD‐MD) initially indicated for apparently de novo pathogenic or likely pathogenic variants.
Margot Comel, Marina Lamairia, Odile Boute, Camille Cenni, Anne Bergougnoux, Mireille Cossée, Michel Koenig, Luke Mansard, Marie‐Claire Vincent   +8 more
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

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

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

The FEBS Journal, 2019
The limited accessibility of bone and its mineralized nature have restricted deep investigation of its biology. Recent breakthroughs in identification of mutant proteins affecting bone tissue homeostasis in rare skeletal diseases have revealed novel ...
R. Besio, C. Chow, F. Tonelli, J. Marini, A. Forlino   +4 more
semanticscholar   +1 more source

Osteogénesis imperfecta

Anales de la Facultad de Medicina, 2014
Este trabajo tiene por objeto el estudio de una afección ósea rara tanto en nuestro medio como en otros países, y fue realizado en un lapso de tres años, mediante observación sistemática de 4 pacientes internados en el Hospital del Niño, a los que se ha agregado otros 4 enfermos que han sido tomados de la Estadística de este nosocomio, entre los años ...
openaire   +4 more sources