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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Pediatr Rheumatol Online J
December 2024
Translational Genetics Research Group, La Fe Health Research Institute (IIS La Fe), Avenida Fernando Abril Martorell nº 106 Tower A, 7th Floor, Valencia, Spain.
Background: Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogenic variant in the ADAR gene.
View Article and Find Full Text PDFThe Importance of ZIP Code-related Average Household Income on the Severity of Respiratory Syncytial Virus Infection in Infants.
Arch Bronconeumol
December 2024
Servicio de Pediatría, Hospital Infantil Gregorio Marañón, Spain; Instituto de Investigación Sanitaria Gregorio Marañón (IISGM), Madrid, Spain.
Unique infrared thermographic profiles and altered hypothalamic neurochemistry associated with mortality in endotoxic shock.
Exp Neurol
December 2024
Department of Pediatrics, Rainbow Babies & Children's Hospital, Case Western Reserve University, Cleveland, OH, United States of America. Electronic address:
Neonatal sepsis results in significant morbidity and mortality, but early detection is clinically challenging. In a neonatal rat model of endotoxic shock, we identified unique infrared thermographic (IRT) profiles in skin temperature that could identify risk of later mortality. Ten-day old rats were placed in a thermally stable isolette and IRT images of cranial (T), scapula (T) and rump (T) skin temperature were obtained continuously for 8 h following an intraperitoneal injection of LPS (or saline).
View Article and Find Full Text PDFRe-tear rate between 1 and 2 years postoperatively after arthroscopic rotator cuff repair is over 30% and associated with higher tear size and fatty degeneration.
Arthroscopy
December 2024
Department of Orthopaedic Surgery, Chiba University after Graduate School of Medicine.
Purpose: The purpose of this study was to evaluate the integrity of the repaired rotator cuff between 1 and 2 years postoperatively after arthroscopic rotator cuff repair (ARCR) using magnetic resonance imaging (MRI), investigate the factors affecting its change, and assess the association between the change and postoperative clinical outcomes.
Methods: Rotator cuff tear patients who underwent ARCR and were evaluated by MRI before surgery, and 1 and 2 years after ARCR with a minimum of 2-year follow-up were included in this study. Repair integrity was evaluated using Sugaya's classification, and according to the classification types IV and V were defined as re-tears.
35kDa SPECIFIC-SIZED HYALURONAN AMELIORATES HIGH-FAT DIET-INDUCED LIVER INJURY IN MURINE MODEL OF MODERATE OBESITY.
Matrix Biol
December 2024
Department of Inflammation and Immunity, Cleveland Clinic, Cleveland, OH; Department of Molecular Medicine, Case Western Reserve University, Cleveland, OH. Electronic address:
Obesity is a growing concern in the US and world-wide, associated with an increased risk for several cardiometabolic diseases, including metabolic associated steatotic liver disease (MASLD). Currently, therapeutic interventions to prevent and/or treat MASLD are limited, and research is needed to identify new therapeutic targets. The specific-sized 35kDa fragment of hyaluronan (HA35), has gut protective and anti-inflammatory properties and a previous pilot clinical study reported it is well tolerated in healthy individuals.
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