Results 121 to 130 of about 229,029 (299)

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

Diagnostic challenges in pediatric arthritis: A case of systemic juvenile idiopathic arthritis misdiagnosed as septic arthritis in a 3-year-old boy

SAGE Open Medical Case Reports
Arthritis in children has several causes, including infectious, inflammatory, and infiltration of malignant cells, and it is important to differentiate them as soon as possible.
Sogol Alesaeidi, Mohsen Jari
doaj   +1 more source

Flock-level risk factors for outbreaks of infectious arthritis in lambs, Norway 2018. [PDF]

Acta Vet Scand, 2020
Smistad M, Wolff C, Tollersrud T, Tømmerberg V, Phythian C, Kampen AH, Jørgensen HJ.   +6 more
europepmc   +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

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

Housing, management and health in Swedish dairy calves [PDF]

, 2004
This thesis discusses the results of an observational study conducted in dairy herds in the south-western Sweden and a questionnaire survey of dairy herds done throughout Sweden.
Lundborg, Karin
core  

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

ACUTE JOINT PAIN – A PAEDIATRIC INFECTIOUS DISEASES SPECIALIST’S PERSPECTIVE

Slovenska pediatrija
Pain in a joint can be a symptom of many illnesses. The most common infectious diseases are osteoarticular infections, typically affecting the lower extremities.
Katarina Slapšak, Katarina Vincek
doaj   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source