Results 111 to 120 of about 105,916 (245)

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

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

Local Specific IgE Levels Can Predict and Monitor the Therapeutic Response to Subcutaneous Immunotherapy With House Dust Mite

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Identifying predictive and monitoring biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to investigate the systemic and local levels of immunoglobulins and identify potential biomarkers in house dust mite (HDM) allergic rhinitis (AR) patients who are undergoing subcutaneous ...
Xu Xu, Jingyun Li, Xu Zhang, Yu Song, Lin Xi, Luo Zhang, Yuan Zhang   +6 more
wiley   +1 more source

Common Variable Immunodeficiency [PDF]

, 2020
openaire   +3 more sources

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Molecular characterization of the A52 murine hepatocellular carcinoma cell line

Animal Models and Experimental Medicine, EarlyView.
Hepatocellular carcinoma (HCC) is a poor outcome cancer with limited therapeutic choices. To advance therapeutic development we genetically characterized the A52 murine HCC cell line. We noted genetic changes that match a subset of human HCC and this offers the opportunity to test novel targeted therapies in syngeneic mice.
Rhys Gillman, Eun Jin Sun, Miriam Wankell, Matt A. Field, Ulf Schmitz, Lionel Hebbard   +5 more
wiley   +1 more source

Phenotypic profiling of pristane‐induced mimicking human systemic lupus erythematosus in Macaca fascicularis

Animal Models and Experimental Medicine, EarlyView.
Pristane (5 mL/kg) induced a robust systemic lupus erythematosus (SLE)‐like phenotype in Macaca fascicularis, marked by elevated antinuclear antibody (ANA) levels and systemic clinical, hematological, and biochemical changes. This model closely reflects human SLE and provides a translational platform for disease studies and therapeutic evaluation ...
Jonny Jonny, Soetojo Wirjopranoto, Chairul A. Nidom, I Ketut Sudiana, Terawan A. Putranto, Elisa D. Pratiwi, Tiza W. Mawaddah, Astria N. Nidom, Reviany V. Nidom, Setyarina Indrasari, Irma Y. Rosytania, Hiqmah Y. Yana, Sanindita Kusumastuti   +12 more
wiley   +1 more source

CXCL13 as a Biomarker of Complex Common Variable Immunodeficiency. [PDF]

J Clin Immunol
Karafotias I, Martini H, Lee CV, Hunter TTJ, Gurugama P, Guckian M, Steven R, Jolles S, Peakman M, Fear D, Ibrahim MAA.   +10 more
europepmc   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Common Variable Immunodeficiency and Peripheral Lung Nodule

Clinical Medicine Insights: Case Reports, 2008
Miguel Ángel Núñez, Javier Velasco, Jose Luis Hernandez M.D., Ph.D., Cristina Castrillo, Maria Luisa Cagigal   +4 more
doaj   +1 more source