Results 121 to 130 of about 76,083 (297)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Sternoclavicular joint arthropathy mimicking radiculopathy in a patient with concurrent C4-5 disc herniation [PDF]

, 2019
Background Patients with sternoclavicular joint arthropathy, which can result from septic arthritis, often present with localized sternoclavicular pain as well as shoulder pain.
Agarwal, AB, Prateek, Agarwal, MD, Nitin, Goldstein, MD, Ira M., Hansberry, MD, PhD, David, Majmundar, MD, Neil   +4 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +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

Sequential Changes of Plasma C-Reactive Protein, Erythrocyte Sedimentation Rate and White Blood Cell Count in Spine Surgery : Comparison between Lumbar Open Discectomy and Posterior Lumbar Interbody Fusion. [PDF]

, 2014
ObjectiveC-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) are often utilized to evaluate for postoperative infection. Abnormal values may be detected after surgery even in case of non-infection because of muscle injury, transfusion ...
Ament, Jared D, Choi, Man Kyu, Kim, Kee D, Kim, Sung Bum   +3 more
core  

The characteristics of collagen‐induced rheumatoid arthritis in macaques and the changes of heart

Animal Models and Experimental Medicine, EarlyView.
The disease progression in CIA macaques was categorized into three stages: IIR (days 14–34): The indicators related to rheumatoid arthritis and the levels of immunoglobulin were all elevated. There was a small amount of joint effusion, edema and mild synovial hyperplasia. No joint swelling was observed by naked eye.
Lei Zhang, Haifeng Jiang, Zhen Xu, Tingyu Dong, Xiaoyi Liu, Shangxue Yan, Jiajie Kuai, Yan Chang, Wei Wei   +8 more
wiley   +1 more source

Septic arthritis of the temporomandibular joint–a case report and review of the literature

Frontiers in Oral Health
Septic arthritis occurring in the temporomandibular joint (TMJ) has received significantly less attention than it deserves. This condition can severely compromise joint functionality, especially if left untreated.
Shareef Araidy, Naseem Maalouf, Eran Front, Imad Abu El-Naaj   +3 more
doaj   +1 more source

CSF‐Compartmentalized Antibody Glycoprofiles in NMDAR Encephalitis Associate with Etiology and Functional Recovery

Annals of Neurology, EarlyView.
Objective To characterize Fc‐glycosylation profiles in patients with anti‐N‐methyl‐D‐aspartate receptor encephalitis (NMDARe) and assess their association with antibody compartmentalization (cerebrospinal fluid [CSF] vs serum), disease triggers (viral, tumor‐related or idiopathic), and 1‐year outcomes.
Laura Marmolejo, Claudia Papi, Chiara Milano, Esther Aguilar, Estibaliz Maudes, Ivana Duvnjak Orešković, Jerko Štambuk, Maja Pučić‐Baković, Gemma Olivé‐Cirera, Elianet Fonseca, Mar Guasp, Eugenia Martinez‐Hernandez, Helena Ariño, Takahiro Iizuka, Thais Armangué, Josep Dalmau, Marianna Spatola   +16 more
wiley   +1 more source

Diagnosis and management of septic arthritis: A current concepts review

Journal of Children's Orthopaedics
Correct diagnosis and treatment of septic arthritis (SA) are essential to achieve satisfactory results and avoid lifelong consequences. Diagnosing septic arthritis is not always easy, which is why new biomarkers have been sought.
Ignacio Sanpera, Marta Salom, Cristina Alves, Deborah Eastwood   +3 more
doaj   +1 more source

Long‐Term Outcomes Following Anatomic Double‐Bundle Versus Single‐Bundle Anterior Cruciate Ligament Reconstruction Using Hamstring Autograft: A Randomized Controlled Trial With an Average 14‐Year Follow‐Up

Arthroscopy, EarlyView.
Purpose To compare the clinical and radiographic outcomes—particularly the long‐term development of osteoarthritis—14 years after anterior cruciate ligament (ACL) reconstruction between anatomic double‐bundle (DB) and anatomic single‐bundle (SB) techniques.
Dlshad Qadir, Ninni Sernert, Lars Rostgard‐Christensen, Neel Desai, Mattias Ahldén, Jüri‐Toomas Kartus, Ioannis Karikis   +6 more
wiley   +1 more source