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Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.
Hum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFImproving UK data on avoidable perinatal brain injury: review of data dictionaries and consultation.
Pediatr Res
January 2025
THIS Institute (The Healthcare Improvement Studies Institute), University of Cambridge, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK.
Background: High quality data is important to understanding epidemiology and supporting improvement efforts in perinatal brain injury. It is not clear which data items relevant to brain injury are captured across UK sources of routinely collected data, nor what needs to be done to ensure that those sources are fit for purpose in improving care.
Methods: We reviewed data dictionaries of four main UK perinatal data sources and consulted a multi-professional group (N = 27) with expertise in neonatal/maternity care, statistics, and clinical negligence.
Tunable control of Cas12 activity promotes universal and fast one-pot nucleic acid detection.
Nat Commun
January 2025
CAS Key Laboratory of Urban Pollutant Conversion, Department of Environmental Science and Engineering, University of Science and Technology of China, 230026, Hefei, China.
The CRISPR-based detection methods have been widely applied, yet they remain limited by the non-universal nature of one-pot diagnostic approaches. Here, we report a universal one-pot fluorescent method for the detection of epidemic pathogens, delivering results within 15-20 min. This method uses heparin sodium to precisely tunes the cis-cleavage capability of Cas12 via interference with the Cas12a-crRNA binding process, thereby generating significant fluorescence due to the accumulation of isothermal amplification products.
View Article and Find Full Text PDFLymphocytic Esophagitis: Navigating an Uncharted Territory.
J Investig Med High Impact Case Rep
January 2025
University of Balamand, Beirut, Lebanon.
Lymphocytic esophagitis (LE) is an uncommon subtype of esophagitis defined by persistent esophageal inflammation characterized by a high count of intraepithelial lymphocytes with scarce granulocytes. Although LE can present with atypical features such as chest pain, its clinical presentation can mimic that of gastroesophageal reflux disease or eosinophilic esophagitis, highlighting the importance of biopsy in diagnosing LE. Studies are still limited in understanding the pathophysiology behind this disease warranting further research.
View Article and Find Full Text PDFThe absorption, distribution, metabolism and elimination characteristics of small interfering RNA therapeutics and the opportunity to predict disposition in pregnant women.
Drug Metab Dispos
January 2025
ReNAgade Therapeutics Management Inc, Cambridge, Massachusetts. Electronic address:
Small interfering RNA (siRNA) therapeutics represent an emerging class of pharmacotherapy with the potential to address previously hard-to-treat diseases. Currently approved siRNA therapeutics include lipid nanoparticle-encapsulated siRNA and tri-N-acetylated galactosamine-conjugated siRNA. These siRNA therapeutics exhibit distinct pharmacokinetic characteristics and unique absorption, distribution, metabolism, and elimination (ADME) properties.
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