Results 51 to 60 of about 32,840 (255)

CLINICAL CASE OF RARE TYPE V OSTEOGENESIS IMPERFECTA

Педиатрическая фармакология, 2015
Osteogenesis imperfecta, also known as the brittle bone disease, is a clinically heterogenic hereditary connective tissue disease characterized by brittle bones and high risk of skeletal bone fractures.
G. T. Yakhyayeva, T. V. Margieva, L. S. Namazova-Baranova, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, K. V. Zherdev, N. D. Vashakmadze, A. K. Gevorkyan   +8 more
doaj   +1 more source

Pattern of distribution of patients presenting with osteogenesis imperfecta at AIC cure Children's International Hospital, Kijabe [PDF]

, 2016
Background: Osteogenesis imperfecta is one of the common diseases encountered at AIC CURE Children’s International Hospital (Cure Hospital Kenya).  Osteogenesis imperfecta is a rare condition constituting 2% of all cases seen at the hospital.
Macharia, JT, Mwangi, GC
core   +2 more sources

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

Gagal Jantung Kongestif Et Causa Osteogenesis Imperfecta [PDF]

, 2013
Latar Belakang. Osteogenesis imperfecta adalah kelainan jaringan ikat dan tulang yang bersifat herediter yang mengakibatkan kerapuhan tulang, kelemahan persendian dan kerapuhan pembuluh darah.
Dzikrifishofa, M. (Muhammad)
core  

Viridicatol from the Deep‐Sea‐Derived Fungus Alleviates Bone Loss by Targeting the Wnt/SHN3 Pathway

Advanced Science, Volume 12, Issue 21, June 5, 2025.
Viridicatol (VDC), isolated from the deep‐sea‐derived fungus, enhances osteogenesis in vitro and in vivo by targeting Wnt/SHN3 signaling pathway. It can be delivered via engineered nanovesicles to mitigate bone loss of osteoporosis, fracture repair, and osteogenesis imperfecta.
Chun‐Lan Xie, Shang‐Hui Ye, Yu‐Ting Yue, Bao‐Hong Shi, Jing‐Ping Xu, Lian‐Jie Li, Zheng‐Biao Zou, Matthew B. Greenblatt, Na Li, Xian‐Wen Yang, Ren Xu   +10 more
wiley   +1 more source

Personalized Bonding Approach for Full‐Mouth Adhesive Rehabilitation in Dentinogenesis Imperfecta

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Dentinogenesis imperfecta is a rare genetic disorder impacting dentin structure, with an incidence of 1 in 6000 to 1 in 8000 individuals. This condition alters the tooth's color and structure, affecting patients aesthetically, functionally, and socially.
Cyprien Clark, Olivia Kérourédan, Léa Massé   +2 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

Otopathology in Osteogenesis Imperfecta [PDF]

Otology & Neurotology, 2012
Osteogenesis Imperfecta (OI) is a genetic disorder of connective tissue matrix. OI is caused by mutations that affect type I collagen. The hearing loss in OI is characterized by onset in early adulthood and can be conductive, sensorineural, or mixed.To describe the temporal bone histopathology in 9 individuals with OI.Four adult, 1 pediatric, and 4 ...
Andrew A. McCall, Felipe Santos, Saumil N. Merchant, Wade W. Chien   +3 more
openaire   +2 more sources

Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

Медицинский совет, 2021
The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic
L. Ya. Klimov, T. M. Vdovina, V. A. Pechenkina, T. V. Zhelezniakova, I. N. Zakharova, S. V. Dolbnya, V. A. Kuryaninova, A. V. Kastarnov, D. A. Shmalko, R. O. Tsutsaev, Yu. V. Bykov   +10 more
doaj   +1 more source

Macroscopic Anisotropic Bone Material Properties in Children with Severe \u3cem\u3eOsteogenesis imperfecta\u3c/em\u3e [PDF]

, 2017
Children with severe osteogenesis imperfecta(OI) typically experience numerous fractures and progressive skeletal deformities over their lifetime. Recent studies proposed finite element models to assess fracture risk and guide clinicians in determining ...
Albert, Carolyne, Harris, Gerald, Jameson, John, Smith, Peter, Tarima, Sergey   +4 more
core   +1 more source