Results 81 to 90 of about 385,840 (284)

Mechanisms of Lung Injury in a Mouse Model of Bronchopulmonary Dysplasia [PDF]

, 2009
Bronchopulmonary dysplasia (BPD) is a chronic lung disease that affects preterm infants. Increased levels of inflammatory mediators in the amniotic fluid and in the lungs of preterm infants are associated with the development of BPD.
Hogmalm, Anna
core   +1 more source

A Novel Finding of Type V Osteogenesis Imperfecta: A Distinctive Pattern of Hip Dysfunction

, 2019
Introduction: In 2000, Glorieux et al. described a novel type of osteogenesis imperfecta (OI). Albeit resemblance with type IV in terms of severity, distinguishing radiological features including post-fracture hyperplastic callus (HPC), calcification of ...
Wong, J, To, MKT
core  

Ultrasonic demonstration of fetal skeletal dysplasia : case reports [PDF]

, 1985
ArticleThe original publication is available at http://www.samj.org.zaReports on prenatal diagnosis in cases of skeletal dysplasia have mostly been in high-risk mothers with a suspect genetic background where the fetal lesion could probably be ...
Cremin, B. J., Muller, L. M.
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Protein kinase A is a dependent factor and therapeutic target in mouse models of fibrous dysplasia

Nature Communications
Fibrous dysplasia is a skeletal disorder caused by activating mutations in Gαs, leading to bone fractures, deformities, and pain. Protein kinase A (PKA), the principal effector of Gαs, plays critical roles in various biological processes.
Zhongyu Liu, Lu Xing, Wenlong Huang, Ning Ji, Hang Zhao, Qianming Chen, Xianglong Han, Ding Bai, Xuefeng Zhao   +8 more
doaj   +1 more source

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

Case Reports in Endocrinology, 2018
Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B.
Marianne Jacob, Surabhi Menon, Christina Botti, Ian Marshall   +3 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl

Clinical Case Reports
Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings.
Lassana Cissé, Abdoulaye Yalcouyé, Kadidia Oumar Touré, Youlouza Coulibaly, Alassane Baneye Maiga, Salia Bamba, Dramane Diallo, Salimata Diarra, Abdoulaye Taméga, Oumou Traoré, Mahamadou Kotioumbé, Moussa Aly Sangaré, Hamidou Oumar Ba, Assiatou Simaga, Fatogoma Issa Koné, Oumar Samassekou, Amadou Koné, Cheick Oumar Guinto, Guida Landouré, the H3Africa consortium   +19 more
doaj   +1 more source

Mazabraud syndrome:benign intramuscular myxoma with fibrous skeletal dysplasia [PDF]

, 2011
A 51-year-old woman presented with a soft-tissue swelling of the thigh. A MRI scan of the thigh showed an intramuscular lesion and bone-marrow abnormalities in the femur. A bone scintigraphy and PET/CT-scan showed multiple hotspots in the skeleton.
Moll, Freek C P, de Vries, J E, IJpma, Frank F A, Mostert, Adriaan K, Flach, H Zwenneke   +4 more
core   +4 more sources

Medial Quadriceps Tendon‐Femoral Ligament Reconstruction Offers Favorable Clinical Outcomes and Low Complication Rates for Recurrent Patellar Instability: A Systematic Review

Arthroscopy, EarlyView.
Abstract Purpose To evaluate the surgical methods, clinical outcomes, and complication profile of patients undergoing medial quadriceps tendon‐femoral ligament reconstruction (MQTFLR), either isolated or as medial patellofemoral complex reconstruction (MPFCR), for recurrent patellar instability.
Harjind Kahlon, Benjamin Blackman, Prushoth Vivekanantha, Anika Ranadive, Marc Daniel Bouchard, Darren de SA, Jeffrey Kay   +6 more
wiley   +1 more source