Results 71 to 80 of about 39,956 (278)

Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome) in an ambulatory child

South African Journal of Radiology, 2011
Scapuloiliac dysostosis, also known as pelvis-shoulder dysplasia and Kosenow syndrome, is a rare skeletal dysplasia described first by Kosenow et al. in 1970.
John Joseph, Harish Narayanan, Jacob Varghese, Harish Babu, A Praveen   +4 more
doaj   +1 more source

Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects – a cross-sectional survey study

BMC Musculoskeletal Disorders, 2020
Background Skeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without ...
Hanna Hyvönen, Heidi Anttila, Susanna Tallqvist, Minna Muñoz, Sanna Leppäjoki-Tiistola, Antti Teittinen, Outi Mäkitie, Sinikka Hiekkala   +7 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Trochleoplasty Is Associated With High Rates of Patellofemoral Arthritis: A Systematic Review

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To identify 2‐ to 5‐ and >10‐year complications of trochleoplasty and define rates of postoperative patellofemoral arthritis. Methods PubMed, Embase, and Web of Science were queried for terms related to trochleoplasty. Included studies were clinical studies using trochleoplasty to manage patellofemoral instability and were published in English ...
Cailan L. Feingold, Eric H. Lin, James C. Dawahare, Andrew B. Barcenas, Brandon A. Young, Pranit Kumaran, Austin V. Stone, Joseph N. Liu   +7 more
wiley   +1 more source

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

Frontiers in Pediatrics, 2020
Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause of DMC.
Nagwa E. A. Gaboon, Asia Parveen, Asia Parveen, Khaled A. Ahmad, Taghreed Shuaib, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Lereen Abdelwehab, Amina Arif, Naveed Wasif, Naveed Wasif, Naveed Wasif   +11 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management

, 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Dillon, MJ, Richards, A, Brain, C   +3 more
core  

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, Accepted Article.
Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz, Seza Ozen, Hacer N. Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet E. Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet O. Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +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  

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Schimke immunoosseous dysplasia: Defining skeletal features

, 2009
Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive multisystem disorder characterized by prominent spondyloepiphyseal dysplasia, T cell deficiency, and focal segmental glomerulosclerosis.
Bonneau, D. (Dominique), C.F. Boerkoel, Fryssira, Helen, Schmidt, B, P. Lamfers, Alpay, Harika, Asakura, Yumi, Rusu, Cristina, Spranger, J, Rusu, C. (Christina), Hunter, Kshamta B., Chantal Loirat, Helmke, K., Schmidt, B., Karlien Cransberg, Sarah F. Smithson, Alpay, H., C. Rusu, Stefan Fründ, Mayfield, C. (Christy), Saraiva, Jorge M., Smithson, Sarah F., Schmidt, B. (Beate), Fryssira, H. (Helen), Beate Schmidt, D. Goodman, Lama, G., Taha, D., Majore, Silvia, Lawrence Shoemaker, H. Fryssira, S. Majore, Helen Fryssira, T. Lucke, Natasa Stajic, Goodman, D., Frund, S., J.L. Andre, Helmke, Knut, Alpay, H. (Harika), Fründ, S. (Stefan), Sigaudy, S, Stajic, N., Saraiva, JM, Cairns, R. (Robyn), Boerkoel, C.F. (Cornelius), Boerkoel, Cornelius F., Lucke, T, Sabine Sigaudy, Fründ, Stefan, Sigaudy, S. (Sabine), Shoemaker, L., Stajic, Natasa, Lama, G. (Guiliana), Sigaudy, Sabine, Alpay, H, Boerkoel, Cornelius, Lamfers, P., Shoemaker, L, Pontz, B.F. (Betram), S. Frund, Majore, S. (Silvia), S.F. Smithson, Cairns, Robyn, Saraiva, J., Helmke, K, Rusu, C., Lamfers, Petra, K. Helmke, Harika Alpay, André, J.-L. (Jean-Luc), K. Cransberg, D. Bonneau, Hinkelmann, B., Hinkelmann, B, B. Hinkelmann, Jorge M. Saraiva, Bonneau, Dominique, Smithson, S., Bogdanovic, R., Asakura, Y, Robyn Cairns, Frund, S, Bogdanovic, R. (Radovan), Hunter, K.B. (Kshamta), Doris Taha, Taha, Diman, Guiliana Lama, J.M. Saraiva, David Goodman, Petra Lamfers, Boerkoel, CF, Y. Asakura, Cristina Rusu, Lamfers, P, Stajic, N. (Natasa), Taha, Doris, Cornelius F. Boerkoel, Fryssira, H., C. Loirat, Barbara Hinkelmann, Goodman, D. (David), Saraiva, J.M. (Jorge), Jürgen Spranger, Schoemaker, L. (Lawrence), Mayfield, Christy, R. Bogdanovic, Cairns, R., Pontz, BF, Stajic, N, Yumi Asakura, Cransberg, Karlien, Fryssira, H, J. Spranger, Pontz, B., K.B. Hunter, Bertram F. Pontz, Hinkelmann, B. (Barbara), Smithson, S, Loirat, C. (Chantal), D. Taha, Dominique Bonneau, Bogdanovic, R, Silvia Majore, Bonneau, D, R. Cairns, Hinkelmann, Barbara, Schmidt, Beate, Cransberg, K. (Karlien), Helmke, K. (Knut), Pontz, Bertram F., André, Jean-Luc, Taha, D. (Doris), Radovan Bogdanovic, Lücke, Thomas, Spranger, Jürgen, Smithson, S.F. (Sarah), Cairns, R, Lama, G, Loirat, C, Lamfers, P. (Petra), B.F. Pontz, N. Stajic, Cransberg, K., Mayfield, C, C. Mayfield, B. Schmidt, Jean-Luc André, L. Shoemaker, Kshamta B. Hunter, H. Alpay, Loirat, Chantal, Majore, S., Rusu, C, Hunter, KB, Andre, JL, Goodman, David, Hunter, K., G. Lama, Asakura, Y. (Yumi), Bogdanovic, Radovan, Lücke, T. (Thomas), Majore, S, Lama, Guiliana, Shoemaker, Lawrence, Knut Helmke, Goodman, D, S. Sigaudy, Thomas Lücke, Spranger, J. (Jürgen), Christy Mayfield, Andre, J., Lucke, T.   +172 more
core   +2 more sources