Results 31 to 40 of about 17,499 (218)

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

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

Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis

Radiology Case Reports, 2020
Osteogenesis imperfecta is a genetic disorder by bone fragility and decreased bone density. Ligamentous laxity is also a feature. We present a case report of a very young, nonmobile infant of 5 months who initially presented with a tibial fracture, and ...
Jane L. Ferguson, MBBS, BSc, MRCP, FRCR, Susan R.J. Burrows, MBBS, FRCR   +1 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 ...
Felipe, Santos, Andrew A, McCall, Wade, Chien, Saumil, Merchant   +3 more
openaire   +2 more sources

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

Orphanet Journal of Rare Diseases
Background Osteogenesis imperfecta (OI) is a rare, heritable connective tissue disorder associated with a variety of symptoms, that affect individuals’ quality of life (QoL) and can be associated with increased healthcare resource use. While some aspects
Ingunn Westerheim, Tracy Hart, Taco van Welzenis, Lena Lande Wekre, Oliver Semler, Cathleen Raggio, Michael B. Bober, Maria Rapoport, Samantha Prince, Frank Rauch   +9 more
doaj   +1 more source

Avulsion fracture of the olecranon for the diagnosis of osteogenesis imperfecta case report

Acta Orthopaedica et Traumatologica Turcica, 2021
Avulsion fractures of olecranon in children are very rare and often associated with osteogenesis imperfecta. In this study we report a child who has been followed for constitutional growth retardation for five years.
Abdurrahman Ozcelik, Akin Turgut, Gokhan Maralcan, Sinan Seber   +3 more
doaj  

Single‐Cell Virtual Perturbation Screening Identifies STAT3 as a Key Regulator of Dentinogenesis

Cell Proliferation, EarlyView.
STAT3 promotes odontoblast differentiation in dental mesenchymal cells by transcriptionally regulating WNT2B via the canonical Wnt/β‐catenin signalling pathway. These findings elucidate a mechanism underlying dentine development. ABSTRACT Dentine formation constitutes a physiological process precisely regulated by signal transduction modules governing ...
Yanfei Zhu, Hongyuan Xu, Zijian Zhang, Siyuan Sun, Zihan Huang, Xin Gao, Houwen Pan, Xiangru Huang, Yuanqi Liu, Xinyu Wang, Hanbin Jia, Qinggang Dai, Lingyong Jiang   +12 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

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