Results 41 to 50 of about 2,546 (143)

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Spinal ataxia and computed tomography findings in a Poitou donkey affected with congenital occipitoatlantoaxial malformation

Equine Veterinary Education, Volume 37, Issue 11, Page e261-e265, November 2025.
Summary A 3‐year‐old Poitou donkey was referred for a computed tomography (CT) examination of the cervical spine due to acute deterioration of spinal ataxia. Neurological assessment revealed restricted neck mobility, hypermetria and circumduction of all limbs, indicating a grade 2 out of 5 ataxia.
M. Mikic, F. Frers, L. Wittenberg‐Voges, M. Hellige   +3 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source

Clinical value of extension-flexion MRI in evaluating the indication of internal fixation for patients of craniovertebral junction malformation

Chinese Journal of Contemporary Neurology and Neurosurgery, 2011
Objective To analyse the value of cervical extension-flexion magnetic resonance imaging (EFMRI) in the evaluation of possible atlantoaxial dislocation (AAD) associated with Arnold-Chiari malformation.
Zan CHEN, Yonghua SUN, Hao WU, Xingwen WANG, Fengzeng JIAN   +4 more
doaj  

Anterior Controllable Antedisplacement Fusion (ACAF) in Revision Surgery for Iatrogenic Cervical Kyphosis: Technical Note and Case Series

Orthopaedic Surgery, Volume 17, Issue 4, Page 1265-1274, April 2025.
The study evaluates the feasibility and efficacy of single‐stage anterior controllable antedisplacement fusion in revision surgeries for iatrogenic cervical kyphosis. Results show significant improvement in cervical curvature, reduced complications, and faster recovery compared to traditional approaches, with no severe intraoperative complications ...
Zhenlei Liu, Yaobin Wang, Lei Zhang, Shanhang Jia, He Wang, Lei Cheng, Fengzeng Jian, Kai Wang, Hao Wu   +8 more
wiley   +1 more source

TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia

JCI Insight
Achondroplasia (ACH) and hypochondroplasia (HCH), the two most common types of dwarfism, are each caused by FGFR3 gain-of-function mutations that result in increased FGFR3 signaling, which disrupts chondrogenesis and osteogenesis, resulting in ...
Jacqueline H. Starrett, Clara Lemoine, Matthias Guillo, Chantal Fayad, Nabil Kaci, Melissa Neal, Emily A. Pettitt, Melissandre Pache, Qing Ye, My Chouinard, Eric L. Allen, Geneviève Baujat, Robert L. Hudkins, Michael B. Bober, Todd Harris, Ronald V. Swanson, Laurence Legeai-Mallet   +16 more
doaj   +1 more source

Cerebrovascular Function in Sporadic and Genetic Cerebral Small Vessel Disease

Annals of Neurology, Volume 97, Issue 3, Page 483-498, March 2025.
Objective Cerebral small vessel diseases (SVDs) are associated with cerebrovascular dysfunction, such as increased blood–brain barrier leakage (permeability surface area product), vascular pulsatility, and decreased cerebrovascular reactivity (CVR). No studies assessed all 3 functions concurrently.
Michael S. Stringer, Gordon W. Blair, Anna Kopczak, Danielle Kerkhofs, Michael J. Thrippleton, Francesca M. Chappell, Susana Muñoz Maniega, Rosalind Brown, Kirsten Shuler, Iona Hamilton, Daniela Jaime Garcia, Fergus N. Doubal, Una Clancy, Eleni Sakka, Tetiana Poliakova, Esther Janssen, Marco Duering, Michael Ingrisch, Julie Staals, Walter H. Backes, Robert van Oostenbrugge, Geert Jan Biessels, Martin Dichgans, Joanna M. Wardlaw, The SVDs@target consortium   +24 more
wiley   +1 more source

A Comprehensive Clinical and Therapeutic Review of Achondroplasia and Related Skeletal Dysplasias

Medical and Pharmaceutical Journal
Gain-of-function mutations in the FGFR3 gene cause achondroplasia, the most prevalent skeletal dysplasia, characterized by disproportionately small stature and impaired endochondral ossification.
Ramesh Kumar, Haritha Rajangam, Hemalatha Muthaiyah, Chinjumol Millus, Venmathi Viswanathan, Nepolean Ramasamy   +5 more
doaj   +1 more source

Characterizing the In Utero Phenome of the Chiari II Malformation—A Network Medicine Approach, Using Fetal MRI

Prenatal Diagnosis, Volume 45, Issue 3, Page 362-373, March 2025.
ABSTRACT Objective To apply a network medicine‐based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co‐occurrences. Method A single‐center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed.
Hui Shi, Daniela Prayer, Joel Leinkauf, Johannes Tischer, Xu Li, Patric Kienast, Farjad Khalaveh, Julia Binder, Gregor Kasprian   +8 more
wiley   +1 more source