Results 81 to 90 of about 39,956 (278)

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

Medial Patellofemoral Ligament Reconstruction Using Double Limbed Rectus Femoris Autograft

Arthroscopy Techniques, EarlyView.
Abstract Medial patellofemoral ligament reconstruction is routinely performed when conservative treatment fails and patients present with recurrent patellar dislocations. Most described techniques require fixation or some type of bony procedure on the patella.
Vinicios Barreto Melo, Saulo Santos Blunk, Sérgio Marinho de Gusmão Canuto, Lorran Coque Fonseca, Camilo Partezani Helito, Victor Bezerra de Menezes Monnerat, Pedro Baches Jorge   +6 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

Double‐Limbed Medial Patellofemoral Ligament Reconstruction Using Knotless Femoral Fixation Technique

Arthroscopy Techniques, EarlyView.
Abstract This technical note describes using knotless femoral fixation for medial patellofemoral ligament reconstruction for skeletally immature patients. Using a knotless anchor for epiphyseal femoral fixation in the skeletally immature decreases the risk of irritable interference screw fixation and optimizes graft contact with host bone.
Henry B. Ellis, John E. Arvesen, Cody R. Todesco, Antonia L. Dinulescu, Benjamin L. Johnson, Charles W. Wyatt, Philip L. Wilson   +6 more
wiley   +1 more source

Arthroscopic and Mini‐Open Combined Medial Patellofemoral Ligament and Medial Patellotibial Ligament Reconstruction for J‐Sign‐Positive Patellar Dislocation

Arthroscopy Techniques, EarlyView.
Abstract This technical note addresses recurrent patellar instability with a positive J‐sign and describes a minimally invasive, arthroscopic and mini‐open approach that combines medial patellofemoral ligament and medial patellotibial ligament reconstruction with extensive lateral retinacular release, positioned as a preferred or transitional option ...
Zirong Huang, Xin Gao, Dewei Xu, Bingran Fan, Yankan Ou, Weimin Zhu   +5 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

, 2016
Purpose: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia.
Ok-Hwa Kim, Kim, Sang Cheol, Jeong, Changhoon, Moon Seok Park, Tae-Joon Cho, Sang Cheol Kim, Song, Hae-Ryong, Hey Ran Lee, Chin Youb Chung, Woong-Yang Park, Won Joon Yoo, In Ho Choi, Cho, Tae-Joon, Nayoung K.D. Kim, Jun-Seok Bae, Lee, Hey Ran, Chung Lee, Lee, Chung, Changhoon Jeong, Kim, Ok-Hwa, Ha Yong Kim, Soon Hyuck Lee, Kim, Ha Yong, Soon Chul Lee, Park, Woong-Yang, Kun Bo Park, Lee, Soon Hyuck, Hyun Woo Kim, Kim, Nayoung K. D., Park, Kun Bo, Choi, In Ho, Park, Moon Seok, Bae, Jun-Seok, Chung, Chin Youb, Lee, Soon Chul, Yoo, Won Joon, Kim, Hyun Woo, Hae-Ryong Song   +37 more
core   +2 more sources

Displasia fibrosa dos ossos da face e do crânio: revisão da literatura e relato de três novos casos. [PDF]

, 1999
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Casagrande, Maika Adriana Dione
core  

Osteoma-like melorheostosis: a rare type of skeletal dysplasia depicted on FDG PET/CT [PDF]

, 2019
Melorheostosis, also known as Leri’s disease, is a rare benign form of mesodermal mixed sclerosing bone dysplasia. We report the unusual case of a 14-year-old boy with melorheostosis in the lower extremity that went undiagnosed due to concurrent Ewing ...
Asmar, Karl, Boulos, Fouad I., Abi-Ghanem, Alain S., Muwakkit, Samar A.   +3 more
core   +1 more source