Results 1 to 10 of about 1,880 (148)
Congenital metabolic bone disorders as a cause of bone fragility [PDF]
, 2021 Bone fragility is a pathological condition caused by altered homeostasis of the mineralized bone mass with deterioration of the microarchitecture of the bone tissue, which results in a reduction of bone strength and an increased risk of fracture, even in
Brandi, M. L. +3 more
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Travmatologiâ i Ortopediâ Rossii, 2016 Sclerotic osteodysplasias represent a group of relatively rare diseases; a common feature of them is the diffuse or local bone sclerosis. The reasons for their development are congenital abnormalities of endochondral and intramembranous bone formation ...
A. L. Petrushin +2 more
doaj +1 more source
MRI of the axial skeleton in spondyloarthritis : the many faces of new bone formation [PDF]
, 2019 Spondyloarthritis has two hallmark features: active inflammation and structural lesions with new bone formation. MRI is well suited to assess active inflammation, but there is increasing interest in the role of structural lesions at MRI.
Carron, Philippe +7 more
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Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant [PDF]
Journal of Orthopedics and Joint SurgeryCaffey disease, or infantile cortical hyperostosis, is a rare genetic disorder characterized by abnormal bone formation and swelling of limbs in infants.
Vagta Ram +3 more
doaj +1 more source
Pediatrics and Neonatology, 2013 The usual initial dose of prostaglandin E1 (PGE1) for ductal-dependent congenital heart disease (CHD) is 50–100 ng/kg/minute. The aim of this study was to review our experience of a low initial dose of PGE1 treatment in early newborns with congenital ...
Fu-Kuei Huang +8 more
doaj +1 more source
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia [PDF]
, 2013 Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Almeida, S +7 more
core +3 more sources
Imaging of adult ocular and orbital pathology - a pictorial review [PDF]
, 2014 Orbital pathology often presents a diagnostic challenge to the reporting radiologist. The aetiology is protean, and clinical input is therefore often necessary to narrow the differential diagnosis.
Brennan, Paul +8 more
core +1 more source
Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis [PDF]
, 2011 Mutations in the GALNT3 gene cause tumoral calcinosis characterized by ectopic calcifications due to persistent hyperphosphatemia. We recently developed Galnt3 knockout mice in a mixed background, which had hyperphosphatemia with increased bone mineral ...
Allen, Matthew R. +4 more
core +2 more sources
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 [PDF]
, 2018 The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all ...
Callewaert +16 more
core +2 more sources
Two Probable Cases of Infection with Treponema pallidum during the Neolithic Period in Northern Vietnam (~2000-1500B.C.) [PDF]
, 2020 We would like to thank Dr. Ngo Anh Son, Mr. Bui Van Khanh, and Ms. Nellissa Ling for their assistance with the radiographs, and Dr. Anne Marie E. Snoddy for in-put on the application of a standardized approach to treponemal disease.
Buckley, Hallie +10 more
core +7 more sources