Results 51 to 60 of about 18,213 (191)
Multiple hereditary exostoses and stroke due to vertebral artery dissection. [PDF]
Arauz A +4 more
europepmc +2 more sources
der characterized by the growth of multiple osteochondromas in the metaphyses and diaphyses of long bones [1]. MHE is inherited in an autosomal dominant manner.
Min Jeong Kim +3 more
semanticscholar +1 more source
Congenital multiple exostoses with congenital heart disease
Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
doaj +1 more source
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley +1 more source
Abstract Purpose To evaluate pain, function and patient‐reported outcomes following arthroscopically intended treatment of painful sternoclavicular joint (SCJ) conditions between 2010 and 2024 in a consecutive cohort with long‐term follow‐up including 78 patients.
Anna Hoerby Normann Rasmussen +2 more
wiley +1 more source
Do plantar calcaneal spurs make the plantar aponeurosis enthesis stronger? A biomechanical analysis
Novel testing set up for determining enthesial avulsion parameters. Donor calcanei were dissected to isolate the central band of the plantar fascia, and mounted in a custom 3D‐printed rig (Fig A, B, C) for uniaxial tensile testing of the plantar fascia enthesis (Fig D). This study demonstrated no significant differences in the avulsion parameters, Fmax
Joanna Tomlinson +2 more
wiley +1 more source
A biofabricated 3D in vitro model recapitulating endochondral ossification (ECO) is described, mimicking the steps from condensation to chondrogenesis and hypertrophy, culminating with vascularization of the hypertrophic construct. As a model proof of concept application, Ewing Sarcoma cells are seeded in the model, showing modifications in their ...
Maria Vittoria Colombo +13 more
wiley +1 more source
A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis [PDF]
Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones.
Annu Nanda +2 more
doaj +1 more source
Hereditary Multiple Exostoses and Orthopaedist- Till the Plausible Management Evolves [PDF]
Introduction: Hereditary Multiple Exostoses (HME) is an inherited genetic skeletal disorder of enchondral bone. It is an autosomal dominant disorder affecting juxtaepiphyseal region of the long bones and includes multiple exostoses.
Pankaj Kumar Mishra +2 more
doaj +1 more source

